17p12-p11.2CNV Type: Duplication
Largest CNV size: 1110742 bp
Statistics Box:
Number of Reports: 7
Number of Reports: 7
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
Duplication
Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Duplication
The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
girirajan_11_ASD_discovery_cases
ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
336
Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
1110742
0
1
1
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
3690330
0
1
1
girirajan_13a_DD_discovery_cases
Data from individuals with developmental delay derived from two published reports (Cooper et al., 2011 & Kaminsky et al., 2011)
31518
Developmental delay
NA
NA
3690330
0
9
9
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
5665998
3
3
6
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
2090565
0
1
1
roberts_13_ASD/DD/ID_discovery_cases
Consecutive patients referred with either ASD or learning disability for genetic services at the University of Kansas Medical Center from 2009-2012
215
ASD (n=65) or learning disability (LD; n=150); learning disability defined as developmental delay (infants & children) and/or intellectual disability (older children & adults)
Mean, 10 9.7 yrs.; Range 5 mos.-52 yrs.
65.12% Male
4500000
0
1
1
wang_20_ID_discovery_cases
Patients recruited from the Department of Neurology, Affiliated Childrens Hospital of the Capital Institute of Pediatrics (Beijing, China) between Jan. 2016.01 and Dec. 2018.
95
All cases presented with intellectual disability (ID); 52 patients had ID with multiple congenital anomalies, and 14 patients had ID with autism spectrum disorder
Range, 1 yr. 1 mo.-16 yrs.
68.0% Male
4720005
0
1
1
yuan_15_DD_discovery_cases
Subjects with genomic rearrangements that simultaneously duplicate PMP22 and RAI1 from an initial cohort of 127 subjects with proximal 17p duplications encompassing RAI1
23
Clinical records of 17/23 subjects were available for review; most consistently reported clinical features were feeding difficulties, global developmental delay, behavioral difficulties, and language delay.
N/A
N/A
10636809
0
11
11
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
girirajan_11_ASD_discovery_controls
Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
337
Control. Individuals screened specifically for eight mental health disorders.
1110742
0
0
0
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
girirajan_11_ASD_discovery_cases
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
aCGH (NimbleGen 135K array)
girirajan_13a_DD_discovery_cases
NA
N/A
N/A
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
roberts_13_ASD/DD/ID_discovery_cases
N/A
aCGH
105K or 180K oligonucleotide microarray
Nexus Copy Number (BioDiscovery)
BACs aCGH or FISH
wang_20_ID_discovery_cases
Han Chinese
WGS
Illumina HiSeq 2000
Short Oligonucleotide Analysis Package (SOAP) v.2.21
None
yuan_15_DD_discovery_cases
N/A
aCGH
Agilent 4x180K, 8x60K arrays
FISH, long-range PCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
girirajan_11_ASD_discovery_cases-Si153
10
M
Autism
ADOS score: 10. Vineland composite score: 75.
No mental retardation/intellectual disability. Full-scale IQ, 91; Verbal IQ, 74; Non-verbal IQ, 103.
15570199
16680941
1110743
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-13561.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
15237507
18927841
3690335
GRCh38
Duplication
Yes
girirajan_13a_DD_discovery_cases-DDcase362
N/A
N/A
Developmental delay
N/A
N/A
15237507
18927841
3690335
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase363
N/A
N/A
Developmental delay
N/A
N/A
15237507
18927841
3690335
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase364
N/A
N/A
Developmental delay
N/A
N/A
15237507
18927841
3690335
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase365
N/A
N/A
Developmental delay
N/A
N/A
15237507
18927841
3690335
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase366
N/A
N/A
Developmental delay
N/A
N/A
15237507
18927841
3690335
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase367
N/A
N/A
Developmental delay
N/A
N/A
15237507
18927841
3690335
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase368
N/A
N/A
Developmental delay
N/A
N/A
15237507
18927841
3690335
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase369
N/A
N/A
Developmental delay
N/A
N/A
15237507
18927841
3690335
GRCh38
Duplication
No
girirajan_13a_DD_discovery_cases-DDcase370
N/A
N/A
Developmental delay
N/A
N/A
15237507
18927841
3690335
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000020
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
15776915
18771753
2994839
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000131
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
15898032
20620700
4722669
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002253
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
15952071
18362819
2410749
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002393
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
15259164
20925299
5666136
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005044
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
15897832
20620841
4723010
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005247
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
15234685
20620700
5386016
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13561.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
15974678
18065243
2090566
GRCh38
Duplication
Yes
roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase20
3 yrs.
F
Learning disability (developmental delay/intellectual disability)
Microcephaly, dysmorphism
11982952
16472816
4489865
GRCh38
Duplication
Yes
wang_20_ID_discovery_cases-case10
1 yr. 2 mos.
M
Intellectual disability
Shrill crying, poor skin, hypotonia, cryptorchidism
Intellectual disability
14856683
19576687
4720005
GRCh38
Duplication
No
yuan_15_DD_discovery_cases-caseBAB1229
4.5 yrs.
M
Developmental delay
Infancy: failure to thrive; feeding difficulties not reported. Development: developmental delay, age at walking of 24 months, behavioral difficulties, language delay. Clinical neuropathy, exercise intolerance. Physical features: facial dysmorphism, unusual gait/dropped foot, distal extremity weakness/atrophy, reduced/absent ankle deep tendon reflexes. Studies and imaging: median nerve motor nerve conduction velocity of 19.7 m/sec, median nerve distal compound muscle action potential of 3.4 mV; syringomyelia, congenital heart defect, and renal abnormalities not reported. Case CNV pattern: complex genomic rearrangment (deletion-normal-copy segment-duplication).
15214591
22174580
6959990
GRCh38
Duplication
No
yuan_15_DD_discovery_cases-caseBAB2211
4 yrs. 10 mos.
M
Developmental delay
Infancy: feeding difficulties, failure to thrive, infantile hypotonia. Development: developmental delay, age at walking of 18 months, behavioral difficulties, language delay. Clinical neuropathy/exercise intolerance. Sleep disturbance. Physical features: facial dysmorphism, hyperpronation of feet, unusual gait/dropped foot, distal extremity weakness/atrophy, sensory loss, reduced/absent ankle deep tendon reflexes. Studies and imaging: MRI brain abnormality, syringomyelia, dilated aortic root, aortic aneurysm, bicuspid aortic valve, patent foramen ovale, possible ventricular septal defect, malrotation of left kidney, median nerve motor nerve conduction velocity of 15.4 m/sec (peroneal), median nerve distal compound muscle action potential of 2.4 mV. Case CNV pattern: complex genomic rearrangment (duplication-normal-copy segment-duplication).
13550981
22682051
9131071
GRCh38
Duplication
No
yuan_15_DD_discovery_cases-caseBAB2337
11 mos.
M
Developmental delay
Infancy: failure to thrive, infantile hypotonia; feeding difficulties not reported. Development: developmental delay; age at walking, behavioral difficulties, and language delay not reported. Clinical neuropathy/exercise intolerance not reported. Sleep disturbance not reported. Physical features: bilateral talipes equinovarus; facial dysmorphism, unusual gait/dropped foot, distal extremity weakness/atrophy, sensory loss, and reduced/absent ankle deep tendon reflexes not reported. Studies and imaging: bicuspid aortic valve; MRI brain abnormalities, syringomyelia, renal abnormalities, median nerve motor nerve conduction velocity, and median nerve distal compound muscle action potential not reported.Case CNV pattern: complex genomic rearrangment (deletion1-normal-copy segment-duplication1-normal-copy segment-deletion2-normal-copy segment-duplication2-triplication1-duplication2-triplication2-duplication2).
13893519
19762379
5868861
GRCh38
Duplication
Yes
yuan_15_DD_discovery_cases-caseBAB2362
11 yrs. 6 mos.
M
Developmental delay
Infancy: feeding difficulties, infantile hypotonia. Development: developmental delay, age at walking of 24 months, behavioral difficulties, language delay. Clinical neuropathy (onset at age of 22 months), exercise intolerance. Sleep disturbance. Physical features: facial dysmorphism, bilateral pes planus, hindfoot valgus, wide-based gait, distal extremity weakness/atrophy, sensory loss, reduced/absent ankle deep tendon reflexes. Studies and imaging: median nerve motor nerve conduction velocity of 23.2 m/sec, median nerve distal compound muscle action potential of 6.8 mV; syringomyelina and congenital heart defects not reported.
14597296
22174580
7577285
GRCh38
Duplication
No
yuan_15_DD_discovery_cases-caseBAB2488
9 yrs.
M
Developmental delay
Infancy: feeding difficulties, failure to thrive, infantile hypotonia. Development: developmental delay, age at walking of 15 months, behavioral difficulties, language delay. Clinical neuropathy/exercise intolerance. Sleep disturbance. Physical features: facial dysmorphism, foot deformities, distal extremity weakness/atrophy, reduced/absent ankle deep tendon reflexes. Studies and imaging: MRI brain abnormalities, syringomyelia, congenital heart defect, renal abnormalities, median nerve motor nerve conduction velocity, and median nerve distal compound muscle action potential not reported.
14158647
22174580
8015934
GRCh38
Duplication
No
yuan_15_DD_discovery_cases-caseBAB2790
N/A
N/A
N/A
Detailed clinical information for this patient not available. Case CNV pattern: complex genomic rearrangment (duplication-normal-copy segment-inversion/duplication).
13096502
22174580
9078079
GRCh38
Duplication
No
yuan_15_DD_discovery_cases-caseBAB3813
3 yrs.
M
Developmental delay
Infancy: infantile hypotonia; feeding difficulties not reported. Development: developmental delay, age at walking of 24 months, behavioral difficulties, language delay. Clinical neuropathy/exercise intolerance. Physical features: facial dysmorphism, unusual gait/dropped foot, distal extremity weakness/atrophy, reduced/absent ankle deep tendon reflexes; sensory loss not reported. Studies and imaging: MRI brain abnormalities, syringomyelia, renal abnormalities, median nerve motor nerve conduction velocity, and median nerve distal compound muscle action potential not reported.
15157363
18309295
3151933
GRCh38
Duplication
Yes
yuan_15_DD_discovery_cases-caseBAB527
9 yrs.
M
Developmental delay
Infancy: feeding difficulties, failure to thrive, infantile hypotonia. Development: development delay, walking at age of 6 years, behavioral difficulties, language delay. Clinical neuropathy (age of onset, infancy). exercise intolerance. Sleep disturbance. Physical features: facial dysmorphism, sandle gap, 2-3 toe syndactyly, unusual gait/dropped foot, hypertonicity of lower extremities, sensory loss, reduced/absent ankle deep tendon reflexes. Studies and imaging: brain MRI abnormality, double outlet right ventricle. ventricular septal defect, atrial septal defect, overriding aorta, small renal cysts, median nerve motor nerve conduction velocity of 20.1 m/sec, median nerve distal compound muscle action potential of 6 mV. Case CNV pattern: complex genomic rearrangment (duplication-normal-copy segment-duplication).
14673568
22174580
7501013
GRCh38
Duplication
No
yuan_15_DD_discovery_cases-caseBAB6635
33 yrs.
M
Developmental delay
Infancy: feeding difficulties, failure to thrive, infantile hypotonia. Development: developmental delay, age at walking of 24 months, behavioral difficulties, language delay. Clinical neuropathy (age of onset, 15 years), exercise intolerance. Sleep disturbance not reported. Physical features: facial dysmorphism, bilateral pes planus, hindfoot valgus, unusual gait/dropped foot, distal extremity weakness/atrophy, reduced/absent ankle deep tendon reflexes. Studies and imaging: dilated aortic root; MRI brain abnormalities, syringomyelia, median nerve motor nerve conduction velocity, and median nerve distal compound muscle action potential not reported.
13473297
22174580
8701284
GRCh38
Duplication
No
yuan_15_DD_discovery_cases-caseBAB6636
13 yrs.
M
Developmental delay
Infancy: feeding difficulties, failure to thrive, infantile hypotonia. Development: developmental delay, age at walking of 4 years, behavioral difficulties, language delay. Clinical neuropathy (onset in first decade), exercise intolerance. Sleep disturbance. Physical features: facial dysmorphism, bilateral pes cavus, unilateral equinovarus, wide-based gait, distal extremity weakness/atrophy, sensory loss, reduced/absent ankle deep tendon reflexes. Studies and imaging: MRI brain abnormality, median nerve motor nerve conduction velocity of 24 m/sec; median nerve distal compound muscle action potential not reported.
14294336
20025093
5730758
GRCh38
Duplication
Yes
yuan_15_DD_discovery_cases-caseBAB7679
15 mos.
M
Developmental delay
Infancy: feeding difficulties, infantile hypotonia. Development: developmental delay, not yet walking at age of 15 months, language delay; behavioral difficulties not reported. Sleep disturbance not reported. Physical features: facial dysmorphism, distal extremity weakness/atrophy, reduced/absent ankle deep tendon reflexes; sensory loss not reported. Studies and imaging: MRI brain abnormality, atrial septal defect, patent foramen ovale, persistent left superior vena cava, hydronephrosis; syringomyelia, median nerve motor nerve conduction velocity, and median nerve distal compound muscle action potential not reported.
11161061
22174580
11013520
GRCh38
Duplication
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
girirajan_11_ASD_discovery_cases-Si153
Paternal
Simplex
ZNF29P,UBE2SP1,CDRT15P2,ZSWIM5P1,RNA5SP436,IL6STP1,MEIS3P1,RPLP1P11,RPL22P21,RNU6-314P,RNU6-862P,RN7SL442P,MIR1288,UBB,FTLP12,SNORD49B,SNORD49A,SNORD65,NEK4P2,TRIM16,ZNF286A,TBC1D26,LINC02087,ADORA2B,TTC19,CENPV,TRPV2,LRRC75A,ZNF287,CDRT1,SPECC1P1,ZSWIM7,NCOR1,PIGL,ZNF624
girirajan_13a_ASD_discovery_cases-13561.p1
aCGH (NimbleGen 135K array)
De novo
Simplex
Possibly segregated
MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,ZNF29P,UBE2SP1,CDRT15P2,ZSWIM5P1,RNA5SP436,IL6STP1,MEIS3P1,RPLP1P11,RPL22P21,RNU6-314P,RNU6-862P,RN7SL442P,MIR1288,UBB,FTLP12,SNORD49B,SNORD49A,SNORD65,NEK4P2,RNASEH1P2,RNU6-405P,RN7SL620P,UPF3AP1,SRP68P1,NOS2P4,KRT16P6,KRT16P2,KRT17P4,COTL1P1,LINC02090,MPRIP-AS1,RNU6-767P,RN7SL775P,ACTG1P24,TSEN15P1,RASD1,RNU6-468P,SMCR2,SMCR5,MIR6777,MIR33B,MIEF2,RPL7AP65,RPL21P121,MIR6778,LINC02076,KRT17P5,YWHAEP2,KRT17P2,KRT16P1,TNPO1P2,SRP68P2,FOXO3B,UBE2SP2,RN7SL627P,PMP22,TVP23C,TRIM16,ZNF286A,TBC1D26,LINC02087,ADORA2B,TTC19,CENPV,TRPV2,LRRC75A,ZNF287,USP32P1,KRT17P1,TBC1D27P,TNFRSF13B,PLD6,FLCN,COPS3,NT5M,RPL13P12,MED9,RAI1-AS1,DRC3,ATPAF2,GID4,MYO15A,ALKBH5,LLGL1,FLII,TOP3A,SMCR8,EVPLL,TBC1D3P4,KRT16P4,NOS2P2,FAM106A,USP32P2,TBC1D28,ZNF286B,TRIM16L,FBXW10,TVP23B,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1,SPECC1P1,ZSWIM7,NCOR1,PIGL,ZNF624,MPRIP,PEMT,RAI1,TOM1L2,DRG2,SHMT1,LGALS9C,CCDC144B,SREBF1,PRPSAP2,CCDC144A
girirajan_13a_DD_discovery_cases-DDcase362
Unknown
MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,ZNF29P,UBE2SP1,CDRT15P2,ZSWIM5P1,RNA5SP436,IL6STP1,MEIS3P1,RPLP1P11,RPL22P21,RNU6-314P,RNU6-862P,RN7SL442P,MIR1288,UBB,FTLP12,SNORD49B,SNORD49A,SNORD65,NEK4P2,RNASEH1P2,RNU6-405P,RN7SL620P,UPF3AP1,SRP68P1,NOS2P4,KRT16P6,KRT16P2,KRT17P4,COTL1P1,LINC02090,MPRIP-AS1,RNU6-767P,RN7SL775P,ACTG1P24,TSEN15P1,RASD1,RNU6-468P,SMCR2,SMCR5,MIR6777,MIR33B,MIEF2,RPL7AP65,RPL21P121,MIR6778,LINC02076,KRT17P5,YWHAEP2,KRT17P2,KRT16P1,TNPO1P2,SRP68P2,FOXO3B,UBE2SP2,RN7SL627P,PMP22,TVP23C,TRIM16,ZNF286A,TBC1D26,LINC02087,ADORA2B,TTC19,CENPV,TRPV2,LRRC75A,ZNF287,USP32P1,KRT17P1,TBC1D27P,TNFRSF13B,PLD6,FLCN,COPS3,NT5M,RPL13P12,MED9,RAI1-AS1,DRC3,ATPAF2,GID4,MYO15A,ALKBH5,LLGL1,FLII,TOP3A,SMCR8,EVPLL,TBC1D3P4,KRT16P4,NOS2P2,FAM106A,USP32P2,TBC1D28,ZNF286B,TRIM16L,FBXW10,TVP23B,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1,SPECC1P1,ZSWIM7,NCOR1,PIGL,ZNF624,MPRIP,PEMT,RAI1,TOM1L2,DRG2,SHMT1,LGALS9C,CCDC144B,SREBF1,PRPSAP2,CCDC144A
girirajan_13a_DD_discovery_cases-DDcase363
Unknown
MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,ZNF29P,UBE2SP1,CDRT15P2,ZSWIM5P1,RNA5SP436,IL6STP1,MEIS3P1,RPLP1P11,RPL22P21,RNU6-314P,RNU6-862P,RN7SL442P,MIR1288,UBB,FTLP12,SNORD49B,SNORD49A,SNORD65,NEK4P2,RNASEH1P2,RNU6-405P,RN7SL620P,UPF3AP1,SRP68P1,NOS2P4,KRT16P6,KRT16P2,KRT17P4,COTL1P1,LINC02090,MPRIP-AS1,RNU6-767P,RN7SL775P,ACTG1P24,TSEN15P1,RASD1,RNU6-468P,SMCR2,SMCR5,MIR6777,MIR33B,MIEF2,RPL7AP65,RPL21P121,MIR6778,LINC02076,KRT17P5,YWHAEP2,KRT17P2,KRT16P1,TNPO1P2,SRP68P2,FOXO3B,UBE2SP2,RN7SL627P,PMP22,TVP23C,TRIM16,ZNF286A,TBC1D26,LINC02087,ADORA2B,TTC19,CENPV,TRPV2,LRRC75A,ZNF287,USP32P1,KRT17P1,TBC1D27P,TNFRSF13B,PLD6,FLCN,COPS3,NT5M,RPL13P12,MED9,RAI1-AS1,DRC3,ATPAF2,GID4,MYO15A,ALKBH5,LLGL1,FLII,TOP3A,SMCR8,EVPLL,TBC1D3P4,KRT16P4,NOS2P2,FAM106A,USP32P2,TBC1D28,ZNF286B,TRIM16L,FBXW10,TVP23B,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1,SPECC1P1,ZSWIM7,NCOR1,PIGL,ZNF624,MPRIP,PEMT,RAI1,TOM1L2,DRG2,SHMT1,LGALS9C,CCDC144B,SREBF1,PRPSAP2,CCDC144A
girirajan_13a_DD_discovery_cases-DDcase364
Unknown
MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,ZNF29P,UBE2SP1,CDRT15P2,ZSWIM5P1,RNA5SP436,IL6STP1,MEIS3P1,RPLP1P11,RPL22P21,RNU6-314P,RNU6-862P,RN7SL442P,MIR1288,UBB,FTLP12,SNORD49B,SNORD49A,SNORD65,NEK4P2,RNASEH1P2,RNU6-405P,RN7SL620P,UPF3AP1,SRP68P1,NOS2P4,KRT16P6,KRT16P2,KRT17P4,COTL1P1,LINC02090,MPRIP-AS1,RNU6-767P,RN7SL775P,ACTG1P24,TSEN15P1,RASD1,RNU6-468P,SMCR2,SMCR5,MIR6777,MIR33B,MIEF2,RPL7AP65,RPL21P121,MIR6778,LINC02076,KRT17P5,YWHAEP2,KRT17P2,KRT16P1,TNPO1P2,SRP68P2,FOXO3B,UBE2SP2,RN7SL627P,PMP22,TVP23C,TRIM16,ZNF286A,TBC1D26,LINC02087,ADORA2B,TTC19,CENPV,TRPV2,LRRC75A,ZNF287,USP32P1,KRT17P1,TBC1D27P,TNFRSF13B,PLD6,FLCN,COPS3,NT5M,RPL13P12,MED9,RAI1-AS1,DRC3,ATPAF2,GID4,MYO15A,ALKBH5,LLGL1,FLII,TOP3A,SMCR8,EVPLL,TBC1D3P4,KRT16P4,NOS2P2,FAM106A,USP32P2,TBC1D28,ZNF286B,TRIM16L,FBXW10,TVP23B,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1,SPECC1P1,ZSWIM7,NCOR1,PIGL,ZNF624,MPRIP,PEMT,RAI1,TOM1L2,DRG2,SHMT1,LGALS9C,CCDC144B,SREBF1,PRPSAP2,CCDC144A
girirajan_13a_DD_discovery_cases-DDcase365
Unknown
MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,ZNF29P,UBE2SP1,CDRT15P2,ZSWIM5P1,RNA5SP436,IL6STP1,MEIS3P1,RPLP1P11,RPL22P21,RNU6-314P,RNU6-862P,RN7SL442P,MIR1288,UBB,FTLP12,SNORD49B,SNORD49A,SNORD65,NEK4P2,RNASEH1P2,RNU6-405P,RN7SL620P,UPF3AP1,SRP68P1,NOS2P4,KRT16P6,KRT16P2,KRT17P4,COTL1P1,LINC02090,MPRIP-AS1,RNU6-767P,RN7SL775P,ACTG1P24,TSEN15P1,RASD1,RNU6-468P,SMCR2,SMCR5,MIR6777,MIR33B,MIEF2,RPL7AP65,RPL21P121,MIR6778,LINC02076,KRT17P5,YWHAEP2,KRT17P2,KRT16P1,TNPO1P2,SRP68P2,FOXO3B,UBE2SP2,RN7SL627P,PMP22,TVP23C,TRIM16,ZNF286A,TBC1D26,LINC02087,ADORA2B,TTC19,CENPV,TRPV2,LRRC75A,ZNF287,USP32P1,KRT17P1,TBC1D27P,TNFRSF13B,PLD6,FLCN,COPS3,NT5M,RPL13P12,MED9,RAI1-AS1,DRC3,ATPAF2,GID4,MYO15A,ALKBH5,LLGL1,FLII,TOP3A,SMCR8,EVPLL,TBC1D3P4,KRT16P4,NOS2P2,FAM106A,USP32P2,TBC1D28,ZNF286B,TRIM16L,FBXW10,TVP23B,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1,SPECC1P1,ZSWIM7,NCOR1,PIGL,ZNF624,MPRIP,PEMT,RAI1,TOM1L2,DRG2,SHMT1,LGALS9C,CCDC144B,SREBF1,PRPSAP2,CCDC144A
girirajan_13a_DD_discovery_cases-DDcase366
Unknown
MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,ZNF29P,UBE2SP1,CDRT15P2,ZSWIM5P1,RNA5SP436,IL6STP1,MEIS3P1,RPLP1P11,RPL22P21,RNU6-314P,RNU6-862P,RN7SL442P,MIR1288,UBB,FTLP12,SNORD49B,SNORD49A,SNORD65,NEK4P2,RNASEH1P2,RNU6-405P,RN7SL620P,UPF3AP1,SRP68P1,NOS2P4,KRT16P6,KRT16P2,KRT17P4,COTL1P1,LINC02090,MPRIP-AS1,RNU6-767P,RN7SL775P,ACTG1P24,TSEN15P1,RASD1,RNU6-468P,SMCR2,SMCR5,MIR6777,MIR33B,MIEF2,RPL7AP65,RPL21P121,MIR6778,LINC02076,KRT17P5,YWHAEP2,KRT17P2,KRT16P1,TNPO1P2,SRP68P2,FOXO3B,UBE2SP2,RN7SL627P,PMP22,TVP23C,TRIM16,ZNF286A,TBC1D26,LINC02087,ADORA2B,TTC19,CENPV,TRPV2,LRRC75A,ZNF287,USP32P1,KRT17P1,TBC1D27P,TNFRSF13B,PLD6,FLCN,COPS3,NT5M,RPL13P12,MED9,RAI1-AS1,DRC3,ATPAF2,GID4,MYO15A,ALKBH5,LLGL1,FLII,TOP3A,SMCR8,EVPLL,TBC1D3P4,KRT16P4,NOS2P2,FAM106A,USP32P2,TBC1D28,ZNF286B,TRIM16L,FBXW10,TVP23B,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1,SPECC1P1,ZSWIM7,NCOR1,PIGL,ZNF624,MPRIP,PEMT,RAI1,TOM1L2,DRG2,SHMT1,LGALS9C,CCDC144B,SREBF1,PRPSAP2,CCDC144A
girirajan_13a_DD_discovery_cases-DDcase367
Unknown
MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,ZNF29P,UBE2SP1,CDRT15P2,ZSWIM5P1,RNA5SP436,IL6STP1,MEIS3P1,RPLP1P11,RPL22P21,RNU6-314P,RNU6-862P,RN7SL442P,MIR1288,UBB,FTLP12,SNORD49B,SNORD49A,SNORD65,NEK4P2,RNASEH1P2,RNU6-405P,RN7SL620P,UPF3AP1,SRP68P1,NOS2P4,KRT16P6,KRT16P2,KRT17P4,COTL1P1,LINC02090,MPRIP-AS1,RNU6-767P,RN7SL775P,ACTG1P24,TSEN15P1,RASD1,RNU6-468P,SMCR2,SMCR5,MIR6777,MIR33B,MIEF2,RPL7AP65,RPL21P121,MIR6778,LINC02076,KRT17P5,YWHAEP2,KRT17P2,KRT16P1,TNPO1P2,SRP68P2,FOXO3B,UBE2SP2,RN7SL627P,PMP22,TVP23C,TRIM16,ZNF286A,TBC1D26,LINC02087,ADORA2B,TTC19,CENPV,TRPV2,LRRC75A,ZNF287,USP32P1,KRT17P1,TBC1D27P,TNFRSF13B,PLD6,FLCN,COPS3,NT5M,RPL13P12,MED9,RAI1-AS1,DRC3,ATPAF2,GID4,MYO15A,ALKBH5,LLGL1,FLII,TOP3A,SMCR8,EVPLL,TBC1D3P4,KRT16P4,NOS2P2,FAM106A,USP32P2,TBC1D28,ZNF286B,TRIM16L,FBXW10,TVP23B,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1,SPECC1P1,ZSWIM7,NCOR1,PIGL,ZNF624,MPRIP,PEMT,RAI1,TOM1L2,DRG2,SHMT1,LGALS9C,CCDC144B,SREBF1,PRPSAP2,CCDC144A
girirajan_13a_DD_discovery_cases-DDcase368
Unknown
MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,ZNF29P,UBE2SP1,CDRT15P2,ZSWIM5P1,RNA5SP436,IL6STP1,MEIS3P1,RPLP1P11,RPL22P21,RNU6-314P,RNU6-862P,RN7SL442P,MIR1288,UBB,FTLP12,SNORD49B,SNORD49A,SNORD65,NEK4P2,RNASEH1P2,RNU6-405P,RN7SL620P,UPF3AP1,SRP68P1,NOS2P4,KRT16P6,KRT16P2,KRT17P4,COTL1P1,LINC02090,MPRIP-AS1,RNU6-767P,RN7SL775P,ACTG1P24,TSEN15P1,RASD1,RNU6-468P,SMCR2,SMCR5,MIR6777,MIR33B,MIEF2,RPL7AP65,RPL21P121,MIR6778,LINC02076,KRT17P5,YWHAEP2,KRT17P2,KRT16P1,TNPO1P2,SRP68P2,FOXO3B,UBE2SP2,RN7SL627P,PMP22,TVP23C,TRIM16,ZNF286A,TBC1D26,LINC02087,ADORA2B,TTC19,CENPV,TRPV2,LRRC75A,ZNF287,USP32P1,KRT17P1,TBC1D27P,TNFRSF13B,PLD6,FLCN,COPS3,NT5M,RPL13P12,MED9,RAI1-AS1,DRC3,ATPAF2,GID4,MYO15A,ALKBH5,LLGL1,FLII,TOP3A,SMCR8,EVPLL,TBC1D3P4,KRT16P4,NOS2P2,FAM106A,USP32P2,TBC1D28,ZNF286B,TRIM16L,FBXW10,TVP23B,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1,SPECC1P1,ZSWIM7,NCOR1,PIGL,ZNF624,MPRIP,PEMT,RAI1,TOM1L2,DRG2,SHMT1,LGALS9C,CCDC144B,SREBF1,PRPSAP2,CCDC144A
girirajan_13a_DD_discovery_cases-DDcase369
Unknown
MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,ZNF29P,UBE2SP1,CDRT15P2,ZSWIM5P1,RNA5SP436,IL6STP1,MEIS3P1,RPLP1P11,RPL22P21,RNU6-314P,RNU6-862P,RN7SL442P,MIR1288,UBB,FTLP12,SNORD49B,SNORD49A,SNORD65,NEK4P2,RNASEH1P2,RNU6-405P,RN7SL620P,UPF3AP1,SRP68P1,NOS2P4,KRT16P6,KRT16P2,KRT17P4,COTL1P1,LINC02090,MPRIP-AS1,RNU6-767P,RN7SL775P,ACTG1P24,TSEN15P1,RASD1,RNU6-468P,SMCR2,SMCR5,MIR6777,MIR33B,MIEF2,RPL7AP65,RPL21P121,MIR6778,LINC02076,KRT17P5,YWHAEP2,KRT17P2,KRT16P1,TNPO1P2,SRP68P2,FOXO3B,UBE2SP2,RN7SL627P,PMP22,TVP23C,TRIM16,ZNF286A,TBC1D26,LINC02087,ADORA2B,TTC19,CENPV,TRPV2,LRRC75A,ZNF287,USP32P1,KRT17P1,TBC1D27P,TNFRSF13B,PLD6,FLCN,COPS3,NT5M,RPL13P12,MED9,RAI1-AS1,DRC3,ATPAF2,GID4,MYO15A,ALKBH5,LLGL1,FLII,TOP3A,SMCR8,EVPLL,TBC1D3P4,KRT16P4,NOS2P2,FAM106A,USP32P2,TBC1D28,ZNF286B,TRIM16L,FBXW10,TVP23B,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1,SPECC1P1,ZSWIM7,NCOR1,PIGL,ZNF624,MPRIP,PEMT,RAI1,TOM1L2,DRG2,SHMT1,LGALS9C,CCDC144B,SREBF1,PRPSAP2,CCDC144A
girirajan_13a_DD_discovery_cases-DDcase370
Unknown
MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,ZNF29P,UBE2SP1,CDRT15P2,ZSWIM5P1,RNA5SP436,IL6STP1,MEIS3P1,RPLP1P11,RPL22P21,RNU6-314P,RNU6-862P,RN7SL442P,MIR1288,UBB,FTLP12,SNORD49B,SNORD49A,SNORD65,NEK4P2,RNASEH1P2,RNU6-405P,RN7SL620P,UPF3AP1,SRP68P1,NOS2P4,KRT16P6,KRT16P2,KRT17P4,COTL1P1,LINC02090,MPRIP-AS1,RNU6-767P,RN7SL775P,ACTG1P24,TSEN15P1,RASD1,RNU6-468P,SMCR2,SMCR5,MIR6777,MIR33B,MIEF2,RPL7AP65,RPL21P121,MIR6778,LINC02076,KRT17P5,YWHAEP2,KRT17P2,KRT16P1,TNPO1P2,SRP68P2,FOXO3B,UBE2SP2,RN7SL627P,PMP22,TVP23C,TRIM16,ZNF286A,TBC1D26,LINC02087,ADORA2B,TTC19,CENPV,TRPV2,LRRC75A,ZNF287,USP32P1,KRT17P1,TBC1D27P,TNFRSF13B,PLD6,FLCN,COPS3,NT5M,RPL13P12,MED9,RAI1-AS1,DRC3,ATPAF2,GID4,MYO15A,ALKBH5,LLGL1,FLII,TOP3A,SMCR8,EVPLL,TBC1D3P4,KRT16P4,NOS2P2,FAM106A,USP32P2,TBC1D28,ZNF286B,TRIM16L,FBXW10,TVP23B,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1,SPECC1P1,ZSWIM7,NCOR1,PIGL,ZNF624,MPRIP,PEMT,RAI1,TOM1L2,DRG2,SHMT1,LGALS9C,CCDC144B,SREBF1,PRPSAP2,CCDC144A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000020
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNA5SP436,IL6STP1,MEIS3P1,RPLP1P11,RPL22P21,RNU6-314P,RNU6-862P,RN7SL442P,MIR1288,UBB,FTLP12,SNORD49B,SNORD49A,SNORD65,NEK4P2,RNASEH1P2,RNU6-405P,RN7SL620P,UPF3AP1,SRP68P1,NOS2P4,KRT16P6,KRT16P2,KRT17P4,COTL1P1,LINC02090,MPRIP-AS1,RNU6-767P,RN7SL775P,ACTG1P24,TSEN15P1,RASD1,RNU6-468P,SMCR2,SMCR5,MIR6777,MIR33B,MIEF2,RPL7AP65,RPL21P121,MIR6778,LINC02076,KRT17P5,YWHAEP2,KRT17P2,KRT16P1,TNPO1P2,SRP68P2,FOXO3B,UBE2SP2,LINC02087,ADORA2B,TTC19,CENPV,TRPV2,LRRC75A,ZNF287,USP32P1,KRT17P1,TBC1D27P,TNFRSF13B,PLD6,FLCN,COPS3,NT5M,RPL13P12,MED9,RAI1-AS1,DRC3,ATPAF2,GID4,MYO15A,ALKBH5,LLGL1,FLII,TOP3A,SMCR8,EVPLL,TBC1D3P4,KRT16P4,NOS2P2,FAM106A,USP32P2,TBC1D28,ZNF286B,TRIM16L,FBXW10,SPECC1P1,ZSWIM7,NCOR1,PIGL,ZNF624,MPRIP,PEMT,RAI1,TOM1L2,DRG2,SHMT1,LGALS9C,CCDC144B,SREBF1,CCDC144A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000131
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPLP1P11,RPL22P21,RNU6-314P,RNU6-862P,RN7SL442P,MIR1288,UBB,FTLP12,SNORD49B,SNORD49A,SNORD65,NEK4P2,RNASEH1P2,RNU6-405P,RN7SL620P,UPF3AP1,SRP68P1,NOS2P4,KRT16P6,KRT16P2,KRT17P4,COTL1P1,LINC02090,MPRIP-AS1,RNU6-767P,RN7SL775P,ACTG1P24,TSEN15P1,RASD1,RNU6-468P,SMCR2,SMCR5,MIR6777,MIR33B,MIEF2,RPL7AP65,RPL21P121,MIR6778,LINC02076,KRT17P5,YWHAEP2,KRT17P2,KRT16P1,TNPO1P2,SRP68P2,FOXO3B,UBE2SP2,RN7SL627P,SNORD3B-1,SNORD3B-2,KYNUP2,SNORD3D,SNORD3A,SNORD3C,KYNUP3,MIR1180,MFAP4,LINC02094,RPS2P46,SNORA59B,MTND1P14,NMTRQ-TTG12-1,MTND2P12,MTCO1P39,NDUFB4P3,KCTD9P1,RNU6-258P,RNU6-1057P,RNU6-467P,UPF3AP2,SRP68P3,LINC01984,TNPO1P3,YWHAEP3,KRT16P5,KRT16P3,KRT17P7,COTL1P2,CDRT15L2,ZSWIM5P2,MEIS3P2,ADORA2B,TTC19,CENPV,TRPV2,LRRC75A,ZNF287,USP32P1,KRT17P1,TBC1D27P,TNFRSF13B,PLD6,FLCN,COPS3,NT5M,RPL13P12,MED9,RAI1-AS1,DRC3,ATPAF2,GID4,MYO15A,ALKBH5,LLGL1,FLII,TOP3A,SMCR8,EVPLL,TBC1D3P4,KRT16P4,NOS2P2,FAM106A,USP32P2,TBC1D28,ZNF286B,TRIM16L,FBXW10,TVP23B,FAM83G,GRAP,KYNUP1,EPN2-AS1,B9D1,MAPK7,RNF112,RPL17P43,SLC47A1P1,SLC47A1P2,SLC47A2,ALDH3A1,CCDC144CP,USP32P3,LGALS9B,KRT17P6,TBC1D3P3,LINC02088,SPECC1P1,ZSWIM7,NCOR1,PIGL,ZNF624,MPRIP,PEMT,RAI1,TOM1L2,DRG2,SHMT1,LGALS9C,CCDC144B,SLC5A10,GRAPL,EPN2,SLC47A1,ALDH3A2,ULK2,SPECC1,NOS2P3,SREBF1,PRPSAP2,AKAP10,CCDC144A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002253
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPLP1P11,RPL22P21,RNU6-314P,RNU6-862P,RN7SL442P,MIR1288,UBB,FTLP12,SNORD49B,SNORD49A,SNORD65,NEK4P2,RNASEH1P2,RNU6-405P,RN7SL620P,UPF3AP1,SRP68P1,NOS2P4,KRT16P6,KRT16P2,KRT17P4,COTL1P1,LINC02090,MPRIP-AS1,RNU6-767P,RN7SL775P,ACTG1P24,TSEN15P1,RASD1,RNU6-468P,SMCR2,SMCR5,MIR6777,MIR33B,MIEF2,RPL7AP65,RPL21P121,MIR6778,ADORA2B,TTC19,CENPV,TRPV2,LRRC75A,ZNF287,USP32P1,KRT17P1,TBC1D27P,TNFRSF13B,PLD6,FLCN,COPS3,NT5M,RPL13P12,MED9,RAI1-AS1,DRC3,ATPAF2,GID4,MYO15A,ALKBH5,LLGL1,FLII,TOP3A,SMCR8,ZSWIM7,NCOR1,PIGL,ZNF624,MPRIP,PEMT,RAI1,TOM1L2,DRG2,SHMT1,SREBF1,CCDC144A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002393
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,ZNF29P,UBE2SP1,CDRT15P2,ZSWIM5P1,RNA5SP436,IL6STP1,MEIS3P1,RPLP1P11,RPL22P21,RNU6-314P,RNU6-862P,RN7SL442P,MIR1288,UBB,FTLP12,SNORD49B,SNORD49A,SNORD65,NEK4P2,RNASEH1P2,RNU6-405P,RN7SL620P,UPF3AP1,SRP68P1,NOS2P4,KRT16P6,KRT16P2,KRT17P4,COTL1P1,LINC02090,MPRIP-AS1,RNU6-767P,RN7SL775P,ACTG1P24,TSEN15P1,RASD1,RNU6-468P,SMCR2,SMCR5,MIR6777,MIR33B,MIEF2,RPL7AP65,RPL21P121,MIR6778,LINC02076,KRT17P5,YWHAEP2,KRT17P2,KRT16P1,TNPO1P2,SRP68P2,FOXO3B,UBE2SP2,RN7SL627P,SNORD3B-1,SNORD3B-2,KYNUP2,SNORD3D,SNORD3A,SNORD3C,KYNUP3,MIR1180,MFAP4,LINC02094,RPS2P46,SNORA59B,MTND1P14,NMTRQ-TTG12-1,MTND2P12,MTCO1P39,NDUFB4P3,KCTD9P1,RNU6-258P,RNU6-1057P,RNU6-467P,UPF3AP2,SRP68P3,LINC01984,TNPO1P3,YWHAEP3,KRT16P5,KRT16P3,KRT17P7,COTL1P2,CDRT15L2,ZSWIM5P2,MEIS3P2,RNFT1P3,HNRNPA1P19,OLA1P2,SCDP1,RNU6-1178P,RNASEH1P1,PMP22,TVP23C,TRIM16,ZNF286A,TBC1D26,LINC02087,ADORA2B,TTC19,CENPV,TRPV2,LRRC75A,ZNF287,USP32P1,KRT17P1,TBC1D27P,TNFRSF13B,PLD6,FLCN,COPS3,NT5M,RPL13P12,MED9,RAI1-AS1,DRC3,ATPAF2,GID4,MYO15A,ALKBH5,LLGL1,FLII,TOP3A,SMCR8,EVPLL,TBC1D3P4,KRT16P4,NOS2P2,FAM106A,USP32P2,TBC1D28,ZNF286B,TRIM16L,FBXW10,TVP23B,FAM83G,GRAP,KYNUP1,EPN2-AS1,B9D1,MAPK7,RNF112,RPL17P43,SLC47A1P1,SLC47A1P2,SLC47A2,ALDH3A1,CCDC144CP,USP32P3,LGALS9B,KRT17P6,TBC1D3P3,LINC02088,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1,SPECC1P1,ZSWIM7,NCOR1,PIGL,ZNF624,MPRIP,PEMT,RAI1,TOM1L2,DRG2,SHMT1,LGALS9C,CCDC144B,SLC5A10,GRAPL,EPN2,SLC47A1,ALDH3A2,ULK2,SPECC1,NOS2P3,ABHD17AP6,CCDC144NL,SREBF1,PRPSAP2,AKAP10,CCDC144NL-AS1,CCDC144A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005044
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPLP1P11,RPL22P21,RNU6-314P,RNU6-862P,RN7SL442P,MIR1288,UBB,FTLP12,SNORD49B,SNORD49A,SNORD65,NEK4P2,RNASEH1P2,RNU6-405P,RN7SL620P,UPF3AP1,SRP68P1,NOS2P4,KRT16P6,KRT16P2,KRT17P4,COTL1P1,LINC02090,MPRIP-AS1,RNU6-767P,RN7SL775P,ACTG1P24,TSEN15P1,RASD1,RNU6-468P,SMCR2,SMCR5,MIR6777,MIR33B,MIEF2,RPL7AP65,RPL21P121,MIR6778,LINC02076,KRT17P5,YWHAEP2,KRT17P2,KRT16P1,TNPO1P2,SRP68P2,FOXO3B,UBE2SP2,RN7SL627P,SNORD3B-1,SNORD3B-2,KYNUP2,SNORD3D,SNORD3A,SNORD3C,KYNUP3,MIR1180,MFAP4,LINC02094,RPS2P46,SNORA59B,MTND1P14,NMTRQ-TTG12-1,MTND2P12,MTCO1P39,NDUFB4P3,KCTD9P1,RNU6-258P,RNU6-1057P,RNU6-467P,UPF3AP2,SRP68P3,LINC01984,TNPO1P3,YWHAEP3,KRT16P5,KRT16P3,KRT17P7,COTL1P2,CDRT15L2,ZSWIM5P2,MEIS3P2,ADORA2B,TTC19,CENPV,TRPV2,LRRC75A,ZNF287,USP32P1,KRT17P1,TBC1D27P,TNFRSF13B,PLD6,FLCN,COPS3,NT5M,RPL13P12,MED9,RAI1-AS1,DRC3,ATPAF2,GID4,MYO15A,ALKBH5,LLGL1,FLII,TOP3A,SMCR8,EVPLL,TBC1D3P4,KRT16P4,NOS2P2,FAM106A,USP32P2,TBC1D28,ZNF286B,TRIM16L,FBXW10,TVP23B,FAM83G,GRAP,KYNUP1,EPN2-AS1,B9D1,MAPK7,RNF112,RPL17P43,SLC47A1P1,SLC47A1P2,SLC47A2,ALDH3A1,CCDC144CP,USP32P3,LGALS9B,KRT17P6,TBC1D3P3,LINC02088,SPECC1P1,ZSWIM7,NCOR1,PIGL,ZNF624,MPRIP,PEMT,RAI1,TOM1L2,DRG2,SHMT1,LGALS9C,CCDC144B,SLC5A10,GRAPL,EPN2,SLC47A1,ALDH3A2,ULK2,SPECC1,NOS2P3,SREBF1,PRPSAP2,AKAP10,CCDC144A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005247
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,ZNF29P,UBE2SP1,CDRT15P2,ZSWIM5P1,RNA5SP436,IL6STP1,MEIS3P1,RPLP1P11,RPL22P21,RNU6-314P,RNU6-862P,RN7SL442P,MIR1288,UBB,FTLP12,SNORD49B,SNORD49A,SNORD65,NEK4P2,RNASEH1P2,RNU6-405P,RN7SL620P,UPF3AP1,SRP68P1,NOS2P4,KRT16P6,KRT16P2,KRT17P4,COTL1P1,LINC02090,MPRIP-AS1,RNU6-767P,RN7SL775P,ACTG1P24,TSEN15P1,RASD1,RNU6-468P,SMCR2,SMCR5,MIR6777,MIR33B,MIEF2,RPL7AP65,RPL21P121,MIR6778,LINC02076,KRT17P5,YWHAEP2,KRT17P2,KRT16P1,TNPO1P2,SRP68P2,FOXO3B,UBE2SP2,RN7SL627P,SNORD3B-1,SNORD3B-2,KYNUP2,SNORD3D,SNORD3A,SNORD3C,KYNUP3,MIR1180,MFAP4,LINC02094,RPS2P46,SNORA59B,MTND1P14,NMTRQ-TTG12-1,MTND2P12,MTCO1P39,NDUFB4P3,KCTD9P1,RNU6-258P,RNU6-1057P,RNU6-467P,UPF3AP2,SRP68P3,LINC01984,TNPO1P3,YWHAEP3,KRT16P5,KRT16P3,KRT17P7,COTL1P2,CDRT15L2,ZSWIM5P2,MEIS3P2,PMP22,TVP23C,TRIM16,ZNF286A,TBC1D26,LINC02087,ADORA2B,TTC19,CENPV,TRPV2,LRRC75A,ZNF287,USP32P1,KRT17P1,TBC1D27P,TNFRSF13B,PLD6,FLCN,COPS3,NT5M,RPL13P12,MED9,RAI1-AS1,DRC3,ATPAF2,GID4,MYO15A,ALKBH5,LLGL1,FLII,TOP3A,SMCR8,EVPLL,TBC1D3P4,KRT16P4,NOS2P2,FAM106A,USP32P2,TBC1D28,ZNF286B,TRIM16L,FBXW10,TVP23B,FAM83G,GRAP,KYNUP1,EPN2-AS1,B9D1,MAPK7,RNF112,RPL17P43,SLC47A1P1,SLC47A1P2,SLC47A2,ALDH3A1,CCDC144CP,USP32P3,LGALS9B,KRT17P6,TBC1D3P3,LINC02088,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1,SPECC1P1,ZSWIM7,NCOR1,PIGL,ZNF624,MPRIP,PEMT,RAI1,TOM1L2,DRG2,SHMT1,LGALS9C,CCDC144B,SLC5A10,GRAPL,EPN2,SLC47A1,ALDH3A2,ULK2,SPECC1,NOS2P3,SREBF1,PRPSAP2,AKAP10,CCDC144A
krumm_15_ASD_discovery_cases-case13561.p1
1M-Duov3
De novo
Simplex
Segregated
RPLP1P11,RPL22P21,RNU6-314P,RNU6-862P,RN7SL442P,MIR1288,UBB,FTLP12,SNORD49B,SNORD49A,SNORD65,NEK4P2,RNASEH1P2,RNU6-405P,RN7SL620P,UPF3AP1,SRP68P1,NOS2P4,KRT16P6,KRT16P2,KRT17P4,COTL1P1,LINC02090,MPRIP-AS1,RNU6-767P,RN7SL775P,ACTG1P24,TSEN15P1,RASD1,RNU6-468P,SMCR2,SMCR5,MIR6777,MIR33B,ADORA2B,TTC19,CENPV,TRPV2,LRRC75A,ZNF287,USP32P1,KRT17P1,TBC1D27P,TNFRSF13B,PLD6,FLCN,COPS3,NT5M,RPL13P12,MED9,RAI1-AS1,DRC3,ATPAF2,GID4,ZSWIM7,NCOR1,PIGL,ZNF624,MPRIP,PEMT,RAI1,TOM1L2,SREBF1,CCDC144A
roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase20
BACs aCGH or FISH
Unknown
Unknown
Unknown
RNU11-2P,MIR744,MIR1269B,MIR548H3,CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,ZNF29P,UBE2SP1,CDRT15P2,ZSWIM5P1,RNA5SP436,IL6STP1,MEIS3P1,RPLP1P11,RPL22P21,RNU6-314P,RNU6-862P,RN7SL442P,MIR1288,UBB,FTLP12,SNORD49B,SNORD49A,SNORD65,ZNF18,ELAC2,LINC02093,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,TRIM16,ZNF286A,TBC1D26,LINC02087,ADORA2B,TTC19,CENPV,TRPV2,LRRC75A,MAP2K4,MYOCD,ARHGAP44,HS3ST3A1,COX10-AS1,CDRT15P1,COX10,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1,SPECC1P1,ZSWIM7,NCOR1,PIGL,LINC00670
wang_20_ID_discovery_cases-case10
Unknown
Unknown
Unknown
RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,ZNF29P,UBE2SP1,CDRT15P2,ZSWIM5P1,RNA5SP436,IL6STP1,MEIS3P1,RPLP1P11,RPL22P21,RNU6-314P,RNU6-862P,RN7SL442P,MIR1288,UBB,FTLP12,SNORD49B,SNORD49A,SNORD65,NEK4P2,RNASEH1P2,RNU6-405P,RN7SL620P,UPF3AP1,SRP68P1,FAM106C,NOS2P4,KRT16P6,KRT16P2,KRT17P4,COTL1P1,LINC02090,MPRIP-AS1,RNU6-767P,RN7SL775P,ACTG1P24,TSEN15P1,RASD1,RNU6-468P,SMCR2,SMCR5,MIR6777,MIR33B,MIEF2,RPL7AP65,RPL21P121,MIR6778,LINC02076,KRT17P5,YWHAEP2,KRT17P2,KRT16P1,TNPO1P2,SRP68P2,TBC1D28,UBE2SP2,RN7SL627P,SNORD3B-1,SNORD3B-2,KYNUP2,SNORD3D,SNORD3A,SNORD3C,KYNUP3,MIR1180,MFAP4,LINC02094,RPS2P46,SNORA59B,CDRT8,PMP22,TVP23C,TRIM16,ZNF286A,TBC1D26,LINC02087,ADORA2B,TTC19,CENPV,TRPV2,SNHG29,LRRC75A,ZNF287,USP32P1,KRT17P1,TBC1D27P,TNFRSF13B,PLD6,FLCN,COPS3,NT5M,RPL13P12,MED9,RAI1-AS1,DRC3,ATPAF2,GID4,MYO15A,ALKBH5,LLGL1,FLII,TOP3A,SMCR8,EVPLL,TBC1D3P4,KRT16P4,NOS2P2,FAM106A,USP32P2,ZNF286B,FOXO3B,TRIM16L,FBXW10,TVP23B,FAM83G,GRAP,KYNUP1,EPN2-AS1,B9D1,MAPK7,RNF112,RPL17P43,LINC02096,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1,SPECC1P1,ZSWIM7,NCOR1,PIGL,ZNF624,MPRIP,PEMT,RAI1,TOM1L2,DRG2,SHMT1,LGALS9C,CCDC144B,SLC5A10,GRAPL,EPN2,SLC47A1,SREBF1,PRPSAP2,CCDC144A
yuan_15_DD_discovery_cases-caseBAB1229
De novo
MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,ZNF29P,UBE2SP1,CDRT15P2,ZSWIM5P1,RNA5SP436,IL6STP1,MEIS3P1,RPLP1P11,RPL22P21,RNU6-314P,RNU6-862P,RN7SL442P,MIR1288,UBB,FTLP12,SNORD49B,SNORD49A,SNORD65,NEK4P2,RNASEH1P2,RNU6-405P,RN7SL620P,UPF3AP1,SRP68P1,NOS2P4,KRT16P6,KRT16P2,KRT17P4,COTL1P1,LINC02090,MPRIP-AS1,RNU6-767P,RN7SL775P,ACTG1P24,TSEN15P1,RASD1,RNU6-468P,SMCR2,SMCR5,MIR6777,MIR33B,MIEF2,RPL7AP65,RPL21P121,MIR6778,LINC02076,KRT17P5,YWHAEP2,KRT17P2,KRT16P1,TNPO1P2,SRP68P2,FOXO3B,UBE2SP2,RN7SL627P,SNORD3B-1,SNORD3B-2,KYNUP2,SNORD3D,SNORD3A,SNORD3C,KYNUP3,MIR1180,MFAP4,LINC02094,RPS2P46,SNORA59B,MTND1P14,NMTRQ-TTG12-1,MTND2P12,MTCO1P39,NDUFB4P3,KCTD9P1,RNU6-258P,RNU6-1057P,RNU6-467P,UPF3AP2,SRP68P3,LINC01984,TNPO1P3,YWHAEP3,KRT16P5,KRT16P3,KRT17P7,COTL1P2,CDRT15L2,ZSWIM5P2,MEIS3P2,RNFT1P3,HNRNPA1P19,OLA1P2,SCDP1,RNU6-1178P,RNASEH1P1,SPECC1P2,RN7SL426P,EIF1P5,PDLIM1P2,RPL21P120,KCNJ18,PMP22,TVP23C,TRIM16,ZNF286A,TBC1D26,LINC02087,ADORA2B,TTC19,CENPV,TRPV2,LRRC75A,ZNF287,USP32P1,KRT17P1,TBC1D27P,TNFRSF13B,PLD6,FLCN,COPS3,NT5M,RPL13P12,MED9,RAI1-AS1,DRC3,ATPAF2,GID4,MYO15A,ALKBH5,LLGL1,FLII,TOP3A,SMCR8,EVPLL,TBC1D3P4,KRT16P4,NOS2P2,FAM106A,USP32P2,TBC1D28,ZNF286B,TRIM16L,FBXW10,TVP23B,FAM83G,GRAP,KYNUP1,EPN2-AS1,B9D1,MAPK7,RNF112,RPL17P43,SLC47A1P1,SLC47A1P2,SLC47A2,ALDH3A1,CCDC144CP,USP32P3,LGALS9B,KRT17P6,TBC1D3P3,LINC02088,USP22,LINC01563,DHRS7B,TMEM11,NATD1,MAP2K3,KCNJ12,NCOR1P2,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1,SPECC1P1,ZSWIM7,NCOR1,PIGL,ZNF624,MPRIP,PEMT,RAI1,TOM1L2,DRG2,SHMT1,LGALS9C,CCDC144B,SLC5A10,GRAPL,EPN2,SLC47A1,ALDH3A2,ULK2,SPECC1,NOS2P3,ABHD17AP6,CCDC144NL,C17orf51,UBBP4,SREBF1,PRPSAP2,AKAP10,CCDC144NL-AS1,CCDC144A
yuan_15_DD_discovery_cases-caseBAB2211
De novo
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,ZNF29P,UBE2SP1,CDRT15P2,ZSWIM5P1,RNA5SP436,IL6STP1,MEIS3P1,RPLP1P11,RPL22P21,RNU6-314P,RNU6-862P,RN7SL442P,MIR1288,UBB,FTLP12,SNORD49B,SNORD49A,SNORD65,NEK4P2,RNASEH1P2,RNU6-405P,RN7SL620P,UPF3AP1,SRP68P1,NOS2P4,KRT16P6,KRT16P2,KRT17P4,COTL1P1,LINC02090,MPRIP-AS1,RNU6-767P,RN7SL775P,ACTG1P24,TSEN15P1,RASD1,RNU6-468P,SMCR2,SMCR5,MIR6777,MIR33B,MIEF2,RPL7AP65,RPL21P121,MIR6778,LINC02076,KRT17P5,YWHAEP2,KRT17P2,KRT16P1,TNPO1P2,SRP68P2,FOXO3B,UBE2SP2,RN7SL627P,SNORD3B-1,SNORD3B-2,KYNUP2,SNORD3D,SNORD3A,SNORD3C,KYNUP3,MIR1180,MFAP4,LINC02094,RPS2P46,SNORA59B,MTND1P14,NMTRQ-TTG12-1,MTND2P12,MTCO1P39,NDUFB4P3,KCTD9P1,RNU6-258P,RNU6-1057P,RNU6-467P,UPF3AP2,SRP68P3,LINC01984,TNPO1P3,YWHAEP3,KRT16P5,KRT16P3,KRT17P7,COTL1P2,CDRT15L2,ZSWIM5P2,MEIS3P2,RNFT1P3,HNRNPA1P19,OLA1P2,SCDP1,RNU6-1178P,RNASEH1P1,SPECC1P2,RN7SL426P,EIF1P5,PDLIM1P2,RPL21P120,KCNJ18,FTLP13,FAM27E5,MTCYBP13,MTRNR2L1,MTND1P15,MTND2P13,NMTRS-TGA3-1,MTATP6P3,MTCO3P13,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,TRIM16,ZNF286A,TBC1D26,LINC02087,ADORA2B,TTC19,CENPV,TRPV2,LRRC75A,ZNF287,USP32P1,KRT17P1,TBC1D27P,TNFRSF13B,PLD6,FLCN,COPS3,NT5M,RPL13P12,MED9,RAI1-AS1,DRC3,ATPAF2,GID4,MYO15A,ALKBH5,LLGL1,FLII,TOP3A,SMCR8,EVPLL,TBC1D3P4,KRT16P4,NOS2P2,FAM106A,USP32P2,TBC1D28,ZNF286B,TRIM16L,FBXW10,TVP23B,FAM83G,GRAP,KYNUP1,EPN2-AS1,B9D1,MAPK7,RNF112,RPL17P43,SLC47A1P1,SLC47A1P2,SLC47A2,ALDH3A1,CCDC144CP,USP32P3,LGALS9B,KRT17P6,TBC1D3P3,LINC02088,USP22,LINC01563,DHRS7B,TMEM11,NATD1,MAP2K3,KCNJ12,NCOR1P2,LINC02002,HS3ST3A1,COX10-AS1,CDRT15P1,COX10,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1,SPECC1P1,ZSWIM7,NCOR1,PIGL,ZNF624,MPRIP,PEMT,RAI1,TOM1L2,DRG2,SHMT1,LGALS9C,CCDC144B,SLC5A10,GRAPL,EPN2,SLC47A1,ALDH3A2,ULK2,SPECC1,NOS2P3,ABHD17AP6,CCDC144NL,C17orf51,UBBP4,FLJ36000,SREBF1,PRPSAP2,AKAP10,CCDC144NL-AS1,CCDC144A
yuan_15_DD_discovery_cases-caseBAB2337
FISH
De novo
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,ZNF29P,UBE2SP1,CDRT15P2,ZSWIM5P1,RNA5SP436,IL6STP1,MEIS3P1,RPLP1P11,RPL22P21,RNU6-314P,RNU6-862P,RN7SL442P,MIR1288,UBB,FTLP12,SNORD49B,SNORD49A,SNORD65,NEK4P2,RNASEH1P2,RNU6-405P,RN7SL620P,UPF3AP1,SRP68P1,NOS2P4,KRT16P6,KRT16P2,KRT17P4,COTL1P1,LINC02090,MPRIP-AS1,RNU6-767P,RN7SL775P,ACTG1P24,TSEN15P1,RASD1,RNU6-468P,SMCR2,SMCR5,MIR6777,MIR33B,MIEF2,RPL7AP65,RPL21P121,MIR6778,LINC02076,KRT17P5,YWHAEP2,KRT17P2,KRT16P1,TNPO1P2,SRP68P2,FOXO3B,UBE2SP2,RN7SL627P,SNORD3B-1,SNORD3B-2,KYNUP2,SNORD3D,SNORD3A,SNORD3C,KYNUP3,MIR1180,MFAP4,LINC02094,RPS2P46,SNORA59B,MTND1P14,NMTRQ-TTG12-1,MTND2P12,MTCO1P39,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,TRIM16,ZNF286A,TBC1D26,LINC02087,ADORA2B,TTC19,CENPV,TRPV2,LRRC75A,ZNF287,USP32P1,KRT17P1,TBC1D27P,TNFRSF13B,PLD6,FLCN,COPS3,NT5M,RPL13P12,MED9,RAI1-AS1,DRC3,ATPAF2,GID4,MYO15A,ALKBH5,LLGL1,FLII,TOP3A,SMCR8,EVPLL,TBC1D3P4,KRT16P4,NOS2P2,FAM106A,USP32P2,TBC1D28,ZNF286B,TRIM16L,FBXW10,TVP23B,FAM83G,GRAP,KYNUP1,EPN2-AS1,B9D1,MAPK7,RNF112,RPL17P43,SLC47A1P1,SLC47A1P2,SLC47A2,ALDH3A1,COX10-AS1,CDRT15P1,COX10,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1,SPECC1P1,ZSWIM7,NCOR1,PIGL,ZNF624,MPRIP,PEMT,RAI1,TOM1L2,DRG2,SHMT1,LGALS9C,CCDC144B,SLC5A10,GRAPL,EPN2,SLC47A1,ALDH3A2,SREBF1,PRPSAP2,CCDC144A
yuan_15_DD_discovery_cases-caseBAB2362
De novo
RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,ZNF29P,UBE2SP1,CDRT15P2,ZSWIM5P1,RNA5SP436,IL6STP1,MEIS3P1,RPLP1P11,RPL22P21,RNU6-314P,RNU6-862P,RN7SL442P,MIR1288,UBB,FTLP12,SNORD49B,SNORD49A,SNORD65,NEK4P2,RNASEH1P2,RNU6-405P,RN7SL620P,UPF3AP1,SRP68P1,NOS2P4,KRT16P6,KRT16P2,KRT17P4,COTL1P1,LINC02090,MPRIP-AS1,RNU6-767P,RN7SL775P,ACTG1P24,TSEN15P1,RASD1,RNU6-468P,SMCR2,SMCR5,MIR6777,MIR33B,MIEF2,RPL7AP65,RPL21P121,MIR6778,LINC02076,KRT17P5,YWHAEP2,KRT17P2,KRT16P1,TNPO1P2,SRP68P2,FOXO3B,UBE2SP2,RN7SL627P,SNORD3B-1,SNORD3B-2,KYNUP2,SNORD3D,SNORD3A,SNORD3C,KYNUP3,MIR1180,MFAP4,LINC02094,RPS2P46,SNORA59B,MTND1P14,NMTRQ-TTG12-1,MTND2P12,MTCO1P39,NDUFB4P3,KCTD9P1,RNU6-258P,RNU6-1057P,RNU6-467P,UPF3AP2,SRP68P3,LINC01984,TNPO1P3,YWHAEP3,KRT16P5,KRT16P3,KRT17P7,COTL1P2,CDRT15L2,ZSWIM5P2,MEIS3P2,RNFT1P3,HNRNPA1P19,OLA1P2,SCDP1,RNU6-1178P,RNASEH1P1,SPECC1P2,RN7SL426P,EIF1P5,PDLIM1P2,RPL21P120,KCNJ18,LINC02096,CDRT8,PMP22,TVP23C,TRIM16,ZNF286A,TBC1D26,LINC02087,ADORA2B,TTC19,CENPV,TRPV2,LRRC75A,ZNF287,USP32P1,KRT17P1,TBC1D27P,TNFRSF13B,PLD6,FLCN,COPS3,NT5M,RPL13P12,MED9,RAI1-AS1,DRC3,ATPAF2,GID4,MYO15A,ALKBH5,LLGL1,FLII,TOP3A,SMCR8,EVPLL,TBC1D3P4,KRT16P4,NOS2P2,FAM106A,USP32P2,TBC1D28,ZNF286B,TRIM16L,FBXW10,TVP23B,FAM83G,GRAP,KYNUP1,EPN2-AS1,B9D1,MAPK7,RNF112,RPL17P43,SLC47A1P1,SLC47A1P2,SLC47A2,ALDH3A1,CCDC144CP,USP32P3,LGALS9B,KRT17P6,TBC1D3P3,LINC02088,USP22,LINC01563,DHRS7B,TMEM11,NATD1,MAP2K3,KCNJ12,NCOR1P2,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1,SPECC1P1,ZSWIM7,NCOR1,PIGL,ZNF624,MPRIP,PEMT,RAI1,TOM1L2,DRG2,SHMT1,LGALS9C,CCDC144B,SLC5A10,GRAPL,EPN2,SLC47A1,ALDH3A2,ULK2,SPECC1,NOS2P3,ABHD17AP6,CCDC144NL,C17orf51,UBBP4,SREBF1,PRPSAP2,AKAP10,CCDC144NL-AS1,CCDC144A
yuan_15_DD_discovery_cases-caseBAB2488
De novo
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,ZNF29P,UBE2SP1,CDRT15P2,ZSWIM5P1,RNA5SP436,IL6STP1,MEIS3P1,RPLP1P11,RPL22P21,RNU6-314P,RNU6-862P,RN7SL442P,MIR1288,UBB,FTLP12,SNORD49B,SNORD49A,SNORD65,NEK4P2,RNASEH1P2,RNU6-405P,RN7SL620P,UPF3AP1,SRP68P1,NOS2P4,KRT16P6,KRT16P2,KRT17P4,COTL1P1,LINC02090,MPRIP-AS1,RNU6-767P,RN7SL775P,ACTG1P24,TSEN15P1,RASD1,RNU6-468P,SMCR2,SMCR5,MIR6777,MIR33B,MIEF2,RPL7AP65,RPL21P121,MIR6778,LINC02076,KRT17P5,YWHAEP2,KRT17P2,KRT16P1,TNPO1P2,SRP68P2,FOXO3B,UBE2SP2,RN7SL627P,SNORD3B-1,SNORD3B-2,KYNUP2,SNORD3D,SNORD3A,SNORD3C,KYNUP3,MIR1180,MFAP4,LINC02094,RPS2P46,SNORA59B,MTND1P14,NMTRQ-TTG12-1,MTND2P12,MTCO1P39,NDUFB4P3,KCTD9P1,RNU6-258P,RNU6-1057P,RNU6-467P,UPF3AP2,SRP68P3,LINC01984,TNPO1P3,YWHAEP3,KRT16P5,KRT16P3,KRT17P7,COTL1P2,CDRT15L2,ZSWIM5P2,MEIS3P2,RNFT1P3,HNRNPA1P19,OLA1P2,SCDP1,RNU6-1178P,RNASEH1P1,SPECC1P2,RN7SL426P,EIF1P5,PDLIM1P2,RPL21P120,KCNJ18,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,TRIM16,ZNF286A,TBC1D26,LINC02087,ADORA2B,TTC19,CENPV,TRPV2,LRRC75A,ZNF287,USP32P1,KRT17P1,TBC1D27P,TNFRSF13B,PLD6,FLCN,COPS3,NT5M,RPL13P12,MED9,RAI1-AS1,DRC3,ATPAF2,GID4,MYO15A,ALKBH5,LLGL1,FLII,TOP3A,SMCR8,EVPLL,TBC1D3P4,KRT16P4,NOS2P2,FAM106A,USP32P2,TBC1D28,ZNF286B,TRIM16L,FBXW10,TVP23B,FAM83G,GRAP,KYNUP1,EPN2-AS1,B9D1,MAPK7,RNF112,RPL17P43,SLC47A1P1,SLC47A1P2,SLC47A2,ALDH3A1,CCDC144CP,USP32P3,LGALS9B,KRT17P6,TBC1D3P3,LINC02088,USP22,LINC01563,DHRS7B,TMEM11,NATD1,MAP2K3,KCNJ12,NCOR1P2,COX10,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1,SPECC1P1,ZSWIM7,NCOR1,PIGL,ZNF624,MPRIP,PEMT,RAI1,TOM1L2,DRG2,SHMT1,LGALS9C,CCDC144B,SLC5A10,GRAPL,EPN2,SLC47A1,ALDH3A2,ULK2,SPECC1,NOS2P3,ABHD17AP6,CCDC144NL,C17orf51,UBBP4,SREBF1,PRPSAP2,AKAP10,CCDC144NL-AS1,CCDC144A
yuan_15_DD_discovery_cases-caseBAB2790
Unknown
MIR548H3,CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,ZNF29P,UBE2SP1,CDRT15P2,ZSWIM5P1,RNA5SP436,IL6STP1,MEIS3P1,RPLP1P11,RPL22P21,RNU6-314P,RNU6-862P,RN7SL442P,MIR1288,UBB,FTLP12,SNORD49B,SNORD49A,SNORD65,NEK4P2,RNASEH1P2,RNU6-405P,RN7SL620P,UPF3AP1,SRP68P1,NOS2P4,KRT16P6,KRT16P2,KRT17P4,COTL1P1,LINC02090,MPRIP-AS1,RNU6-767P,RN7SL775P,ACTG1P24,TSEN15P1,RASD1,RNU6-468P,SMCR2,SMCR5,MIR6777,MIR33B,MIEF2,RPL7AP65,RPL21P121,MIR6778,LINC02076,KRT17P5,YWHAEP2,KRT17P2,KRT16P1,TNPO1P2,SRP68P2,FOXO3B,UBE2SP2,RN7SL627P,SNORD3B-1,SNORD3B-2,KYNUP2,SNORD3D,SNORD3A,SNORD3C,KYNUP3,MIR1180,MFAP4,LINC02094,RPS2P46,SNORA59B,MTND1P14,NMTRQ-TTG12-1,MTND2P12,MTCO1P39,NDUFB4P3,KCTD9P1,RNU6-258P,RNU6-1057P,RNU6-467P,UPF3AP2,SRP68P3,LINC01984,TNPO1P3,YWHAEP3,KRT16P5,KRT16P3,KRT17P7,COTL1P2,CDRT15L2,ZSWIM5P2,MEIS3P2,RNFT1P3,HNRNPA1P19,OLA1P2,SCDP1,RNU6-1178P,RNASEH1P1,SPECC1P2,RN7SL426P,EIF1P5,PDLIM1P2,RPL21P120,KCNJ18,LINC02093,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,TRIM16,ZNF286A,TBC1D26,LINC02087,ADORA2B,TTC19,CENPV,TRPV2,LRRC75A,ZNF287,USP32P1,KRT17P1,TBC1D27P,TNFRSF13B,PLD6,FLCN,COPS3,NT5M,RPL13P12,MED9,RAI1-AS1,DRC3,ATPAF2,GID4,MYO15A,ALKBH5,LLGL1,FLII,TOP3A,SMCR8,EVPLL,TBC1D3P4,KRT16P4,NOS2P2,FAM106A,USP32P2,TBC1D28,ZNF286B,TRIM16L,FBXW10,TVP23B,FAM83G,GRAP,KYNUP1,EPN2-AS1,B9D1,MAPK7,RNF112,RPL17P43,SLC47A1P1,SLC47A1P2,SLC47A2,ALDH3A1,CCDC144CP,USP32P3,LGALS9B,KRT17P6,TBC1D3P3,LINC02088,USP22,LINC01563,DHRS7B,TMEM11,NATD1,MAP2K3,KCNJ12,NCOR1P2,HS3ST3A1,COX10-AS1,CDRT15P1,COX10,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1,SPECC1P1,ZSWIM7,NCOR1,PIGL,ZNF624,MPRIP,PEMT,RAI1,TOM1L2,DRG2,SHMT1,LGALS9C,CCDC144B,SLC5A10,GRAPL,EPN2,SLC47A1,ALDH3A2,ULK2,SPECC1,NOS2P3,ABHD17AP6,CCDC144NL,C17orf51,UBBP4,SREBF1,PRPSAP2,AKAP10,CCDC144NL-AS1,CCDC144A
yuan_15_DD_discovery_cases-caseBAB3813
Long-range PCR
Unknown (not maternal)
MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,ZNF29P,UBE2SP1,CDRT15P2,ZSWIM5P1,RNA5SP436,IL6STP1,MEIS3P1,RPLP1P11,RPL22P21,RNU6-314P,RNU6-862P,RN7SL442P,MIR1288,UBB,FTLP12,SNORD49B,SNORD49A,SNORD65,NEK4P2,RNASEH1P2,RNU6-405P,RN7SL620P,UPF3AP1,SRP68P1,NOS2P4,KRT16P6,KRT16P2,KRT17P4,COTL1P1,LINC02090,MPRIP-AS1,RNU6-767P,RN7SL775P,ACTG1P24,TSEN15P1,RASD1,RNU6-468P,SMCR2,SMCR5,MIR6777,MIR33B,MIEF2,PMP22,TVP23C,TRIM16,ZNF286A,TBC1D26,LINC02087,ADORA2B,TTC19,CENPV,TRPV2,LRRC75A,ZNF287,USP32P1,KRT17P1,TBC1D27P,TNFRSF13B,PLD6,FLCN,COPS3,NT5M,RPL13P12,MED9,RAI1-AS1,DRC3,ATPAF2,GID4,MYO15A,ALKBH5,LLGL1,FLII,TOP3A,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1,SPECC1P1,ZSWIM7,NCOR1,PIGL,ZNF624,MPRIP,PEMT,RAI1,TOM1L2,DRG2,SREBF1,CCDC144A
yuan_15_DD_discovery_cases-caseBAB527
De novo
RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,ZNF29P,UBE2SP1,CDRT15P2,ZSWIM5P1,RNA5SP436,IL6STP1,MEIS3P1,RPLP1P11,RPL22P21,RNU6-314P,RNU6-862P,RN7SL442P,MIR1288,UBB,FTLP12,SNORD49B,SNORD49A,SNORD65,NEK4P2,RNASEH1P2,RNU6-405P,RN7SL620P,UPF3AP1,SRP68P1,NOS2P4,KRT16P6,KRT16P2,KRT17P4,COTL1P1,LINC02090,MPRIP-AS1,RNU6-767P,RN7SL775P,ACTG1P24,TSEN15P1,RASD1,RNU6-468P,SMCR2,SMCR5,MIR6777,MIR33B,MIEF2,RPL7AP65,RPL21P121,MIR6778,LINC02076,KRT17P5,YWHAEP2,KRT17P2,KRT16P1,TNPO1P2,SRP68P2,FOXO3B,UBE2SP2,RN7SL627P,SNORD3B-1,SNORD3B-2,KYNUP2,SNORD3D,SNORD3A,SNORD3C,KYNUP3,MIR1180,MFAP4,LINC02094,RPS2P46,SNORA59B,MTND1P14,NMTRQ-TTG12-1,MTND2P12,MTCO1P39,NDUFB4P3,KCTD9P1,RNU6-258P,RNU6-1057P,RNU6-467P,UPF3AP2,SRP68P3,LINC01984,TNPO1P3,YWHAEP3,KRT16P5,KRT16P3,KRT17P7,COTL1P2,CDRT15L2,ZSWIM5P2,MEIS3P2,RNFT1P3,HNRNPA1P19,OLA1P2,SCDP1,RNU6-1178P,RNASEH1P1,SPECC1P2,RN7SL426P,EIF1P5,PDLIM1P2,RPL21P120,KCNJ18,LINC02096,CDRT8,PMP22,TVP23C,TRIM16,ZNF286A,TBC1D26,LINC02087,ADORA2B,TTC19,CENPV,TRPV2,LRRC75A,ZNF287,USP32P1,KRT17P1,TBC1D27P,TNFRSF13B,PLD6,FLCN,COPS3,NT5M,RPL13P12,MED9,RAI1-AS1,DRC3,ATPAF2,GID4,MYO15A,ALKBH5,LLGL1,FLII,TOP3A,SMCR8,EVPLL,TBC1D3P4,KRT16P4,NOS2P2,FAM106A,USP32P2,TBC1D28,ZNF286B,TRIM16L,FBXW10,TVP23B,FAM83G,GRAP,KYNUP1,EPN2-AS1,B9D1,MAPK7,RNF112,RPL17P43,SLC47A1P1,SLC47A1P2,SLC47A2,ALDH3A1,CCDC144CP,USP32P3,LGALS9B,KRT17P6,TBC1D3P3,LINC02088,USP22,LINC01563,DHRS7B,TMEM11,NATD1,MAP2K3,KCNJ12,NCOR1P2,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1,SPECC1P1,ZSWIM7,NCOR1,PIGL,ZNF624,MPRIP,PEMT,RAI1,TOM1L2,DRG2,SHMT1,LGALS9C,CCDC144B,SLC5A10,GRAPL,EPN2,SLC47A1,ALDH3A2,ULK2,SPECC1,NOS2P3,ABHD17AP6,CCDC144NL,C17orf51,UBBP4,SREBF1,PRPSAP2,AKAP10,CCDC144NL-AS1,CCDC144A
yuan_15_DD_discovery_cases-caseBAB6635
Unknown
MIR548H3,CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,ZNF29P,UBE2SP1,CDRT15P2,ZSWIM5P1,RNA5SP436,IL6STP1,MEIS3P1,RPLP1P11,RPL22P21,RNU6-314P,RNU6-862P,RN7SL442P,MIR1288,UBB,FTLP12,SNORD49B,SNORD49A,SNORD65,NEK4P2,RNASEH1P2,RNU6-405P,RN7SL620P,UPF3AP1,SRP68P1,NOS2P4,KRT16P6,KRT16P2,KRT17P4,COTL1P1,LINC02090,MPRIP-AS1,RNU6-767P,RN7SL775P,ACTG1P24,TSEN15P1,RASD1,RNU6-468P,SMCR2,SMCR5,MIR6777,MIR33B,MIEF2,RPL7AP65,RPL21P121,MIR6778,LINC02076,KRT17P5,YWHAEP2,KRT17P2,KRT16P1,TNPO1P2,SRP68P2,FOXO3B,UBE2SP2,RN7SL627P,SNORD3B-1,SNORD3B-2,KYNUP2,SNORD3D,SNORD3A,SNORD3C,KYNUP3,MIR1180,MFAP4,LINC02094,RPS2P46,SNORA59B,MTND1P14,NMTRQ-TTG12-1,MTND2P12,MTCO1P39,NDUFB4P3,KCTD9P1,RNU6-258P,RNU6-1057P,RNU6-467P,UPF3AP2,SRP68P3,LINC01984,TNPO1P3,YWHAEP3,KRT16P5,KRT16P3,KRT17P7,COTL1P2,CDRT15L2,ZSWIM5P2,MEIS3P2,RNFT1P3,HNRNPA1P19,OLA1P2,SCDP1,RNU6-1178P,RNASEH1P1,SPECC1P2,RN7SL426P,EIF1P5,PDLIM1P2,RPL21P120,KCNJ18,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,TRIM16,ZNF286A,TBC1D26,LINC02087,ADORA2B,TTC19,CENPV,TRPV2,LRRC75A,ZNF287,USP32P1,KRT17P1,TBC1D27P,TNFRSF13B,PLD6,FLCN,COPS3,NT5M,RPL13P12,MED9,RAI1-AS1,DRC3,ATPAF2,GID4,MYO15A,ALKBH5,LLGL1,FLII,TOP3A,SMCR8,EVPLL,TBC1D3P4,KRT16P4,NOS2P2,FAM106A,USP32P2,TBC1D28,ZNF286B,TRIM16L,FBXW10,TVP23B,FAM83G,GRAP,KYNUP1,EPN2-AS1,B9D1,MAPK7,RNF112,RPL17P43,SLC47A1P1,SLC47A1P2,SLC47A2,ALDH3A1,CCDC144CP,USP32P3,LGALS9B,KRT17P6,TBC1D3P3,LINC02088,USP22,LINC01563,DHRS7B,TMEM11,NATD1,MAP2K3,KCNJ12,NCOR1P2,HS3ST3A1,COX10-AS1,CDRT15P1,COX10,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1,SPECC1P1,ZSWIM7,NCOR1,PIGL,ZNF624,MPRIP,PEMT,RAI1,TOM1L2,DRG2,SHMT1,LGALS9C,CCDC144B,SLC5A10,GRAPL,EPN2,SLC47A1,ALDH3A2,ULK2,SPECC1,NOS2P3,ABHD17AP6,CCDC144NL,C17orf51,UBBP4,SREBF1,PRPSAP2,AKAP10,CCDC144NL-AS1,CCDC144A
yuan_15_DD_discovery_cases-caseBAB6636
Long-range PCR
Unknown (not maternal)
MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,ZNF29P,UBE2SP1,CDRT15P2,ZSWIM5P1,RNA5SP436,IL6STP1,MEIS3P1,RPLP1P11,RPL22P21,RNU6-314P,RNU6-862P,RN7SL442P,MIR1288,UBB,FTLP12,SNORD49B,SNORD49A,SNORD65,NEK4P2,RNASEH1P2,RNU6-405P,RN7SL620P,UPF3AP1,SRP68P1,NOS2P4,KRT16P6,KRT16P2,KRT17P4,COTL1P1,LINC02090,MPRIP-AS1,RNU6-767P,RN7SL775P,ACTG1P24,TSEN15P1,RASD1,RNU6-468P,SMCR2,SMCR5,MIR6777,MIR33B,MIEF2,RPL7AP65,RPL21P121,MIR6778,LINC02076,KRT17P5,YWHAEP2,KRT17P2,KRT16P1,TNPO1P2,SRP68P2,FOXO3B,UBE2SP2,RN7SL627P,SNORD3B-1,SNORD3B-2,KYNUP2,SNORD3D,SNORD3A,SNORD3C,KYNUP3,MIR1180,MFAP4,LINC02094,RPS2P46,SNORA59B,MTND1P14,NMTRQ-TTG12-1,MTND2P12,MTCO1P39,NDUFB4P3,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,TRIM16,ZNF286A,TBC1D26,LINC02087,ADORA2B,TTC19,CENPV,TRPV2,LRRC75A,ZNF287,USP32P1,KRT17P1,TBC1D27P,TNFRSF13B,PLD6,FLCN,COPS3,NT5M,RPL13P12,MED9,RAI1-AS1,DRC3,ATPAF2,GID4,MYO15A,ALKBH5,LLGL1,FLII,TOP3A,SMCR8,EVPLL,TBC1D3P4,KRT16P4,NOS2P2,FAM106A,USP32P2,TBC1D28,ZNF286B,TRIM16L,FBXW10,TVP23B,FAM83G,GRAP,KYNUP1,EPN2-AS1,B9D1,MAPK7,RNF112,RPL17P43,SLC47A1P1,SLC47A1P2,SLC47A2,ALDH3A1,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1,SPECC1P1,ZSWIM7,NCOR1,PIGL,ZNF624,MPRIP,PEMT,RAI1,TOM1L2,DRG2,SHMT1,LGALS9C,CCDC144B,SLC5A10,GRAPL,EPN2,SLC47A1,ALDH3A2,ULK2,SPECC1,SREBF1,PRPSAP2,AKAP10,CCDC144A
yuan_15_DD_discovery_cases-caseBAB7679
De novo
RNU11-2P,MIR744,MIR1269B,MIR548H3,CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,ZNF29P,UBE2SP1,CDRT15P2,ZSWIM5P1,RNA5SP436,IL6STP1,MEIS3P1,RPLP1P11,RPL22P21,RNU6-314P,RNU6-862P,RN7SL442P,MIR1288,UBB,FTLP12,SNORD49B,SNORD49A,SNORD65,NEK4P2,RNASEH1P2,RNU6-405P,RN7SL620P,UPF3AP1,SRP68P1,NOS2P4,KRT16P6,KRT16P2,KRT17P4,COTL1P1,LINC02090,MPRIP-AS1,RNU6-767P,RN7SL775P,ACTG1P24,TSEN15P1,RASD1,RNU6-468P,SMCR2,SMCR5,MIR6777,MIR33B,MIEF2,RPL7AP65,RPL21P121,MIR6778,LINC02076,KRT17P5,YWHAEP2,KRT17P2,KRT16P1,TNPO1P2,SRP68P2,FOXO3B,UBE2SP2,RN7SL627P,SNORD3B-1,SNORD3B-2,KYNUP2,SNORD3D,SNORD3A,SNORD3C,KYNUP3,MIR1180,MFAP4,LINC02094,RPS2P46,SNORA59B,MTND1P14,NMTRQ-TTG12-1,MTND2P12,MTCO1P39,NDUFB4P3,KCTD9P1,RNU6-258P,RNU6-1057P,RNU6-467P,UPF3AP2,SRP68P3,LINC01984,TNPO1P3,YWHAEP3,KRT16P5,KRT16P3,KRT17P7,COTL1P2,CDRT15L2,ZSWIM5P2,MEIS3P2,RNFT1P3,HNRNPA1P19,OLA1P2,SCDP1,RNU6-1178P,RNASEH1P1,SPECC1P2,RN7SL426P,EIF1P5,PDLIM1P2,RPL21P120,KCNJ18,ZNF18,ELAC2,LINC02093,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,TRIM16,ZNF286A,TBC1D26,LINC02087,ADORA2B,TTC19,CENPV,TRPV2,LRRC75A,ZNF287,USP32P1,KRT17P1,TBC1D27P,TNFRSF13B,PLD6,FLCN,COPS3,NT5M,RPL13P12,MED9,RAI1-AS1,DRC3,ATPAF2,GID4,MYO15A,ALKBH5,LLGL1,FLII,TOP3A,SMCR8,EVPLL,TBC1D3P4,KRT16P4,NOS2P2,FAM106A,USP32P2,TBC1D28,ZNF286B,TRIM16L,FBXW10,TVP23B,FAM83G,GRAP,KYNUP1,EPN2-AS1,B9D1,MAPK7,RNF112,RPL17P43,SLC47A1P1,SLC47A1P2,SLC47A2,ALDH3A1,CCDC144CP,USP32P3,LGALS9B,KRT17P6,TBC1D3P3,LINC02088,USP22,LINC01563,DHRS7B,TMEM11,NATD1,MAP2K3,KCNJ12,NCOR1P2,DNAH9,MAP2K4,MYOCD,ARHGAP44,HS3ST3A1,COX10-AS1,CDRT15P1,COX10,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1,SPECC1P1,ZSWIM7,NCOR1,PIGL,ZNF624,MPRIP,PEMT,RAI1,TOM1L2,DRG2,SHMT1,LGALS9C,CCDC144B,SLC5A10,GRAPL,EPN2,SLC47A1,ALDH3A2,ULK2,SPECC1,NOS2P3,ABHD17AP6,CCDC144NL,C17orf51,UBBP4,SHISA6,LINC00670,SREBF1,PRPSAP2,AKAP10,CCDC144NL-AS1,CCDC144A
Controls
No Control Data Available
No Animal Model Data Available