8p23.1-p11.1CNV Type: Duplication
Largest CNV size: 31099460 bp
Statistics Box:
Number of Reports: 5
Number of Reports: 5
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...
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Genotype-phenotype association studies of chromosome 8p inverted duplication deletion syndrome.
Duplication
Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
fisch_11_ASD_discovery_cases
Four cases initially diagnosed cytogenetically with chromosome 8p inverted duplication deletion [invdupdel(8p23)], blood from all 4 cases examined at M.I.N.D. Institute (Univ. of California, Davis)
4
3 cases with diagnosis of autism, 1 case with diagnosis of ADHD. Diagnosis on autism based on CARS. Attention/activity deficits (ADHD or ADD) assessed using CPRS-R. Cognitive abilities assessed using SBFE, adaptive behavior skills assessed with VABS.
Range, 3-15 yrs.
50% Male
31099460
0
2
2
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
31016723
0
4
4
okur_21_ASD/EP/NDD_discovery_cases
Individuals with chromosome 8p rearrangements of invdupdel(8p), del(8p), and dup(8p) (selected from an original cohort of 97 individuals).
89
All patients presented with neurodevelopmental features (NDD); a subset of patients presented with autism spectrum disorder and/or epilepsy/seizures.
Range, 0.8-33.9 yrs.
47.19% Male
31565489
0
7
7
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
31331234
0
3
3
verberne_22_ASD/DD/ID_discovery_cases
Patients in the Dutch Caribbean referred to a visiting Dutch clinical geneticist between November 2011 and November 2019 by local pediatricians for a clinical genetic evaluation at the outpatient pediatric clinics of the Curacao Medical Center, Dr. Horacio E. Oduber Hospital (Aruba), Fundashon Mariadal (Bonaire), and St. Maarten Medical Center.
331
Common reasons for referral included developmental delay (DD) and/or intellectual disability (ID) (39%), with or without other anomalies, and congenital anomalies (24%); a subset of individuals also presented with autism spectrum disorder (ASD) and/or seizures.
Range, 0-18.7 yrs. (median age 3.95 yrs.)
NA
31182473
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
fisch_11_ASD_discovery_cases
NA
aCGH
Agilent Human Genome CGH 244A
Feature Extraction Software v9.1, Agilent Genomic Workbench v5.0
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
okur_21_ASD/EP/NDD_discovery_cases
N/A
CMA
N/A
N/A
N/A
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
qPCR
verberne_22_ASD/DD/ID_discovery_cases
Dutch Caribbean
CMA
NA
NA
NA
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
fisch_11_ASD_discovery_cases-case1
15 yrs.
F
Autism
Diagnosis of mild-to-moderate autism based on CARS score of 35.5 on re-examination (initial CARS core of 27.5 was in non-autistic range). Lack of expressive speech and language. Behavior consistent with DSM-IV diagnosis of ADHD (CPRS-R scores: 99th %ile for hyperactivity, 98th %ile for restlessness and impulsivity). CBCL results: T-score for attention (T=75) clinically significant; all other emotionality and temperament T-scores within normal range. Case often stared at people or into space for long periods. Dysmorphic features: somewhat long face, unusually wide open eyes. Parents showed normal microarray patterns.
SBFE not administered due to lack of expressive speech & language; overall VABS score of <20 indicates much lower than adequate levels of adaptive behavior.
12547803
43647263
31099460
Unknown
Duplication
No
fisch_11_ASD_discovery_cases-case2
3 yrs.
M
Autism
Diagnosis of mild autism based on CARS score of 32. Extremely limited speech & language. Lethargic, did not point or gesture, made no eye contact, did not want face to be touched. CBCL scores noted subclinical thought problems (T=67) and significant withdrawal from others (T=74). CPRS-R scores noted signficant anxious/withdrawn behaviors (100th %ile), psychosomatic problems (94th %ile), & emotional lability (95th %ile). Dysmorphic features: large head, prominent forehead. Parents showed normal microarray patterns.
VABS score of 51 (much lower than adequate levels of adaptive behavior)
12547803
37028346
24480543
Unknown
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000909
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
12728904
43673207
30944304
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001262
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
12609975
43336172
30726198
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002276
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
12750796
43532444
30781649
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004207
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
12609975
43255410
30645436
GRCh38
Duplication
Yes
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_1
7.1 yrs.
F
NDD
Neonatal history: Poor suck, Respiratory distress. Neurologic profile: Hypotonia, Hypertonia, Difficulty walking/Wobbly, clumsy gait, Regression. Brain imaging abnormality: abnormality of the corpus callosum (agenesis), Hydrocephalus/Ventriculomegaly, Cerebral/cerebellar atrophy. Cardiac issues: VSD, ASD. Visual abnormalities: Refractive error, Strabismus, Cortical visual impairment, Optic nerve (atrophy/enlarged/cupped). Gastrointestinal abnormalities: Constipation, GERD, Laryngotracheomalacia. Musculoskeletal abnormalities: Scoliosis. Genitourinary abnormalities: Structural kidney abnormalities. Growth and Endocrine abnormalities: failure to thrive/poor weight gain. Skin abnormalities: Rashes. Frequent infections: Otitis media, Urinary tract infections. Dental: Delayed eruption, Permanent primary teeth.
12403405
43968893
31565489
GRCh38
Duplication
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_2
15.8 yrs.
M
Epilepsy/seizures
Neonatal history: Floppy infant, Feeding difficulty, Poor suck, Respiratory distress, Seizures. Neurobehavioral profile: Stereotypic behaviors/Tics/Hand flapping. Neurologic profile: Hypotonia, Hypertonia. Brain imaging abnormality: abnormality of the corpus callosum (hypoplasia). Sleep problems: Sleep apnea. Cardiac issues: VSD. Gastrointestinal abnormalities: Constipation, GERD, Inflammatory bowel disease. Musculoskeletal abnormalities: Scoliosis, Equinovarus/equinovalgus. Genitourinary abnormalities: Cryptorchidism, VUR, Structural kidney abnormalities, Bladder problems. Growth and Endocrine abnormalities: Short stature, failure to thrive/poor weight gain. Frequent infections: Otitis media, Immunodeficiency. Dental abnormalities: Widely-spaced teeth. Additional medical history: Conductive hearing loss (fluid), Eosinofilic esophagitis, Mildly elevated white blood cells.
12668576
43965763
31297188
GRCh38
Duplication
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_3
13.2 yrs.
F
Epilepsy/seizures
Prenatal history: Reduced fetal movement. Neonatal history: Feeding difficulty, Polycythemia, Seizures. Neurologic profile: Hypotonia, Hypertonia. Brain imaging abnormality: abnormality of the corpus callosum (agenesis). Seizures: Myoclonic. Visual: Other visual abnormalities. Growth and Endocrine abnormalities: failure to thrive/poor weight gain.
12703271
43931580
31228310
GRCh38
Duplication
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_4
22.4 yrs.
F
Epilepsy/seizures
Neonatal history: Floppy infant, Feeding difficulty, Poor suck, Overly sleepy, Hypoglycemia, Nuchal cord. Neurologic profile: Hypotonia, Hypertonia. Brain imaging abnormality: abnormality of the corpus callosum (agenesis), Hydrocephalus/Ventriculomegaly. Seizures: Absence, Febrile. Sleep problems: Sleep apnea. Visual abnormalities: Strabismus, Cortical visual impairment, Optic nerve (atrophy/enlarged/cupped). Gastrointestinal abnormalities: Constipation, GERD, Feeding difficulty, absent gallbladder. Musculoskeletal abnormalities: Scoliosis, Hypermobile joints, Kyphosis, Other musculoskeletal abnormalities. Genitourinary abnormalities: Bicornate uterus. Growth and Endocrine abnormalities: failure to thrive/poor weight gain. Skin abnormalities: Rashes. Frequent infections: Urinary tract infections, Lower respiratory infections. Dental abnormalities: Widely-spaced teeth, Permanent primary teeth. Additional medical history: High pain tolerance.
12691704
43802547
31110844
GRCh38
Duplication
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_5
5.4 yrs.
M
Epilepsy/seizures
Prenatal history: SGA. Neonatal history: Floppy infant, Feeding difficulty, Poor suck, Irritable, Hypoglycemia, Thermoregulation issues. Neurologic profile: Hypotonia, Difficulty walking/Wobbly, clumsy gait. Brain imaging abnormality: abnormality of the corpus callosum (agenesis), Hydrocephalus/Ventriculomegaly, Delayed myelination. Seizures: Febrile, Tonic-clonic. Sleep problems: Night terrors, Other sleep problems. Gastrointestinal abnormalities: Constipation, GERD. Growth and Endocrine abnormalities: Short stature, failure to thrive/poor weight gain. Skin abnormalities: Rashes. Frequent infections: Otitis media. Dental abnormalities: Widely-spaced teeth, Small teeth. Additional medical history: sensorineural hearing loss (SNHL), Anemia, Asthma.
12341364
43686841
31345478
GRCh38
Duplication
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_6
3.2 yrs.
F
NDD
Prenatal history: Single umbilical artery, Cardiac finding. Neonatal history: Feeding difficulty, Poor suck, Respiratory distress. Neurologic profile: Hypotonia, Difficulty walking/Wobbly, clumsy gait. Brain imaging abnormality: abnormality of the corpus callosum (agenesis), Cerebral/cerebellar atrophy, Dandy-Walker malformation, Intracranial cyst. Sleep problems: Sleep difficulty. Cardiac issues: PFO. Visual abnormalities: Refractive error. Gastrointestinal abnormalities: Constipation. Growth and Endocrine abnormalities: Precocious puberty. Dental abnormalities: Small teeth.
12088345
43568322
31479978
GRCh38
Duplication
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_7
13.3 yrs.
M
NDD
Neonatal history: Floppy infant, Feeding difficulty, Poor suck, Overly sleepy. Neurobehavioral profile: Stereotypic behaviors/Tics/Hand flapping, Aggessivity/Tantrums/Impulsivity. Neurologic profile: Hypotonia, Difficulty walking/Wobbly, clumsy gait. Brain imaging abnormality: abnormality of the corpus callosum (agenesis), Hydrocephalus/Ventriculomegaly, Other brain imaging abnormality. Sleep problems: Sleep difficulty. Visual abnormalities: Refractive error. Gastrointestinal abnormalities: Constipation. Musculoskeletal abnormalities: Pes planus. Genitourinary abnormalities: Cryptorchidism, Hypospadias. Growth and Endocrine abnormalities: Short stature, failure to thrive/poor weight gain. Skin abnormalities: Eczema.
12077513
43565689
31488177
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1006-0
N/A
M
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no. Neurological features: spastic diplegic cerebral palsy, hypotonia, hyporeflexia, diminished strength, fine motor delay, visual motor delay. Dysmorphic features: prominent forehead, prominent ears, high arched palate. Ocular and auditory problems: chronic otitis media, hyperopia. Gastrointestinal problems: problems with swallowing, reflux, constipation. Musculoskeletal problems: pectus excavatum. Brain imaging: complete ACC, normal pituitary gland, large ventricle size, no Probst bundles, decreased white matter volume, and abnormal myelination observed on brain MRI.
Developmental delay: yes. Intellectual disability: yes.
12693647
43837679
31144033
GRCh38
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1020-0
N/A
F
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: no. Seizures: no. Brain imaging: complete ACC, normal pituitary gland, large ventricule size, present Probst bundles, decreased white matter volume, and abnormal myelination observed on brain MRI.
Developmental delay: yes. Intellectual disability: yes.
12693647
43952460
31258814
GRCh38
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1228-0
N/A
M
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: unknown. Brain imaging: partial ACC, abnormal pituitary gland, small ventricle size, no Probst bundles, decreased white matter volume, and abnormal myelination observed on brain MRI.
Developmental delay: unknown. Intellectual disability: yes.
12693647
43952460
31258814
GRCh38
Duplication
Yes
verberne_22_ASD/DD/ID_discovery_cases-case129
NA
M
Agenesis of the corpus callosum, hypotonia, facial dysmorphism
12636755
43819227
31182473
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
fisch_11_ASD_discovery_cases-case1
Unknown (likely de novo based on parents' microarray results)
Unknown
LONRF1,KIAA1456,DLC1,C8orf48,SGCZ,TUSC3,MSR1,FGF20,EFHA2,ZDHHC2,CNOT7,VPS37A,MTMR7,SLC7A2,PDGFRL,MTUS1,FGL1,PCM1,ASAH1,NAT1,NAT2,PSD3,SH2D4A,CSGALNACT1,INTS10,LPL,SLC18A1,ATP6V1B2,LZTS1,GFRA2,DOK2,XPO7,NPM2,FGF17,EPB49,FAM160B2,NUDT18,HR,REEP4,LGI3,SFTPC,BMP1,PHYHIP,POLR3D,PIWIL2,SLC39A14,PPP3CC,SORBS3,PDLIM2,C8orf58,KIAA1967,BIN3,EGR3,PEBP4,RHOBTB2,TNFRSF10B,TNFRSF10C,TNFRSF10D,TNFRSF10A,CHMP7,R3HCC1,LOXL2,ENTPD4,SLC25A37,NKX3-1,NKX2-6,STC1,ADAM28,ADAMDEC1,ADAM7,NEFM,NEFL,DOCK5,GNRH1,KCTD9,CDCA2,EBF2,PPP2R2A,BNIP3L,PNMA2,DPYSL2,ADRA1A,STMN4,TRIM35,PTK2B,CHRNA2,EPHX2,CLU,SCARA3,CCDC25,ESCO2,PBK,SCARA5,C8orf80,ELP3,PNOC,ZNF395,FBXO16,FZD3,EXTL3,INTS9,HMBOX1,KIF13B,DUSP4,TMEM66,LEPROTL1,MBOAT4,DCTN6,RBPMS,GTF2E2,LOC100507341,GSR,UBXN8,PPP2CB,TEX15,PURG,WRN,NRG1,FUT10,MAK16,TTI2,RNF122,DUSP26,UNC5D,KCNU1,ZNF703,ERLIN2,PROSC,GPR124,BRF2,RAB11FIP1,GOT1L1,ADRB3,EIF4EBP1,ASH2L,STAR,LSM1,BAG4,DDHD2,PPAPDC1B,WHSC1L1,LETM2,FGFR1,C8orf86,TACC1,PLEKHA2,HTRA4,TM2D2,ADAM9,ADAM32,ADAM18,ADAM2,IDO1,IDO2,C8orf4,ZMAT4,SFRP1,GOLGA7,GINS4,AGPAT6,NKX6-3,ANK1,KAT6A,AP3M2,PLAT,IKBKB,POLB,DKK4,VDAC3,SLC20A2,C8orf40,CHRNB3,CHRNA6,THAP1,RNF170,HOOK3,FNTA,SGK196,HGSNAT,POTEA
fisch_11_ASD_discovery_cases-case2
Unknown (likely de novo based on parents' microarray results)
Unknown
LONRF1,KIAA1456,DLC1,C8orf48,SGCZ,TUSC3,MSR1,FGF20,EFHA2,ZDHHC2,CNOT7,VPS37A,MTMR7,SLC7A2,PDGFRL,MTUS1,FGL1,PCM1,ASAH1,NAT1,NAT2,PSD3,SH2D4A,CSGALNACT1,INTS10,LPL,SLC18A1,ATP6V1B2,LZTS1,GFRA2,DOK2,XPO7,NPM2,FGF17,EPB49,FAM160B2,NUDT18,HR,REEP4,LGI3,SFTPC,BMP1,PHYHIP,POLR3D,PIWIL2,SLC39A14,PPP3CC,SORBS3,PDLIM2,C8orf58,KIAA1967,BIN3,EGR3,PEBP4,RHOBTB2,TNFRSF10B,TNFRSF10C,TNFRSF10D,TNFRSF10A,CHMP7,R3HCC1,LOXL2,ENTPD4,SLC25A37,NKX3-1,NKX2-6,STC1,ADAM28,ADAMDEC1,ADAM7,NEFM,NEFL,DOCK5,GNRH1,KCTD9,CDCA2,EBF2,PPP2R2A,BNIP3L,PNMA2,DPYSL2,ADRA1A,STMN4,TRIM35,PTK2B,CHRNA2,EPHX2,CLU,SCARA3,CCDC25,ESCO2,PBK,SCARA5,C8orf80,ELP3,PNOC,ZNF395,FBXO16,FZD3,EXTL3,INTS9,HMBOX1,KIF13B,DUSP4,TMEM66,LEPROTL1,MBOAT4,DCTN6,RBPMS,GTF2E2,LOC100507341,GSR,UBXN8,PPP2CB,TEX15,PURG,WRN,NRG1,FUT10,MAK16,TTI2,RNF122,DUSP26,UNC5D,KCNU1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000909
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-842P,MTND4P7,RNA5SP255,C8orf48,EIF4EP5,RNU7-153P,RNU6-397P,MIR383,PPM1AP1,MRPL49P2,RN7SL474P,FGF20,ADAM24P,MIR548V,RNA5SP256,MTND4LP26,NATP,RPL35P6,RPL30P9,RNU6-892P,RNA5SP257,TMEM97P2,OR6R2P,DOK2,FGF17,NUDT18,REEP4,SFTPC,PHYHIP,MIR320A,RNU6-336P,C8orf58,RN7SL303P,TNFRSF10C,TNFRSF10A-AS1,RPL23AP55,RNU4-71P,SINHCAFP3,NKX3-1,NKX2-6,STC1,RNU1-148P,NEFM,MIR6841,MIR6876,GNRH1,RNA5SP258,COX6B1P4,MIR548H4,MIR6842,MIR6843,RNU6-1086P,MIR3622B,MIR3622A,RNU6-1276P,MIR4287,RPL5P22,RNU6-178P,MIR4288,RNA5SP259,EXTL3-AS1,INTS9-AS1,RNA5SP260,HMGB1P23,RPL17P33,MIR3148,MAP2K1P1,RNU6-1218P,RPS15AP24,MBOAT4,HSPA8P11,PPIAP84,TUBBP1,RBPMS-AS1,SMIM18,RNU5A-3P,SUMO2P16,KCTD9P6,RNA5SP261,RNA5SP262,RNA5SP263,NRG1-IT3,RNU6-663P,MTND1P6,MTND2P32,RANP9,RNU6-528P,SNORD13,RPL10P18,RN7SL621P,DUSP26,BUD31P1,RN7SL457P,VENTXP5,RPL10AP3,LSM12P1,MTCYBP19,MTND6P19,MTND5P41,RNU6-533P,RPL23P10,RNA5SP264,TPT1P8,SMARCE1P4,RNU6-607P,RN7SL709P,GOT1L1,ADRB3,RPL12P48,RNU6-988P,STAR,RNU6-323P,PLPP5,RPS20P22,TCIM,RNU6-356P,MIR548AO,RPS29P2,RNU6-895P,SNORD65B,KRT18P37,MIR486-1,MIR486-2,RN7SL149P,RPL5P23,DKK4,THAP1,RN7SL806P,MIR4469,VN1R46P,AFG3L2P1,RNU6-104P,SNX18P27,CYP4F44P,LONRF1,LINC00681,CNOT7,PDGFRL,FGL1,ASAH1,NAT2,SH2D4A,INTS10,SLC18A1,ATP6V1B2,LZTS1,LZTS1-AS1,LINC02153,XPO7,NPM2,DMTN,FAM160B2,HR,BMP1,POLR3D,PPP3CC,SORBS3,PDLIM2,CCAR2,BIN3,EGR3,RHOBTB2,TNFRSF10D,CHMP7,R3HCC1,ENTPD4,SLC25A37,ADAM28,ADAMDEC1,NEFL,CDCA2,SDAD1P1,PNMA2,ADRA1A,STMN4,TRIM35,CHRNA2,GULOP,CLU,CCDC25,PBK,PNOC,ZNF395,HMBOX1-IT1,DUSP4,LINC00589,LINC02209,SARAF,DCTN6,GTF2E2,GSR,UBXN8,TEX15,PURG,TTI2,MAK16,LINC01288,ZNF703,PLPBP,ADGRA2,BRF2,EIF4EBP1,LSM1,BAG4,RNF5P1,HTRA4,TM2D2,RPL3P10,ADAM2,IDO1,SIRLNT,GOLGA7,GINS4,GPAT4,NKX6-3,AP3M2,IKBKB,POLB,VDAC3,SMIM19,CHRNA6,FNTA,RNU1-124P,HGSNAT,POTEA,TRMT9B,DLC1,MSR1,MICU3,ZDHHC2,VPS37A,MTMR7,SLC7A2,MTUS1,PCM1,NAT1,CSGALNACT1,GFRA2,LGI3,PIWIL2,SLC39A14,PEBP4,TNFRSF10A,LOXL2,ADAM7,DOCK5,KCTD9,EBF2,PPP2R2A,BNIP3L,DPYSL2,PTK2B,EPHX2,SCARA3,ESCO2,SCARA5,NUGGC,ELP3,FBXO16,FZD3,EXTL3,INTS9,HMBOX1,KIF13B,LINC02099,LEPROTL1,PPP2CB,WRN,NRG1-IT1,FUT10,KCNU1,LINC01605,RAB11FIP1,ASH2L,DDHD2,NSD3,LETM2,FGFR1,C8orf86,PLEKHA2,ADAM9,ADAM32,ADAM5,ADAM3A,ADAM18,IDO2,SFRP1,ANK1,PLAT,SLC20A2,CHRNB3,RNF170,POMK,SGCZ,TUSC3,PSD3,LPL,TNFRSF10B,RBPMS,NRG1,UNC5D,ERLIN2,TACC1,ZMAT4,HOOK3,RNF122,KAT6A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001262
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPS3AP35,OR7E8P,OR7E15P,OR7E10P,MIR5692A2,MIR3926-1,MIR3926-2,RNU6-842P,MTND4P7,RNA5SP255,C8orf48,EIF4EP5,RNU7-153P,RNU6-397P,MIR383,PPM1AP1,MRPL49P2,RN7SL474P,FGF20,ADAM24P,MIR548V,RNA5SP256,MTND4LP26,NATP,RPL35P6,RPL30P9,RNU6-892P,RNA5SP257,TMEM97P2,OR6R2P,DOK2,FGF17,NUDT18,REEP4,SFTPC,PHYHIP,MIR320A,RNU6-336P,C8orf58,RN7SL303P,TNFRSF10C,TNFRSF10A-AS1,RPL23AP55,RNU4-71P,SINHCAFP3,NKX3-1,NKX2-6,STC1,RNU1-148P,NEFM,MIR6841,MIR6876,GNRH1,RNA5SP258,COX6B1P4,MIR548H4,MIR6842,MIR6843,RNU6-1086P,MIR3622B,MIR3622A,RNU6-1276P,MIR4287,RPL5P22,RNU6-178P,MIR4288,RNA5SP259,EXTL3-AS1,INTS9-AS1,RNA5SP260,HMGB1P23,RPL17P33,MIR3148,MAP2K1P1,RNU6-1218P,RPS15AP24,MBOAT4,HSPA8P11,PPIAP84,TUBBP1,RBPMS-AS1,SMIM18,RNU5A-3P,SUMO2P16,KCTD9P6,RNA5SP261,RNA5SP262,RNA5SP263,NRG1-IT3,RNU6-663P,MTND1P6,MTND2P32,RANP9,RNU6-528P,SNORD13,RPL10P18,RN7SL621P,DUSP26,BUD31P1,RN7SL457P,VENTXP5,RPL10AP3,LSM12P1,MTCYBP19,MTND6P19,MTND5P41,RNU6-533P,RPL23P10,RNA5SP264,TPT1P8,SMARCE1P4,RNU6-607P,RN7SL709P,GOT1L1,ADRB3,RPL12P48,RNU6-988P,STAR,RNU6-323P,PLPP5,RPS20P22,TCIM,RNU6-356P,MIR548AO,RPS29P2,RNU6-895P,SNORD65B,KRT18P37,MIR486-1,MIR486-2,RN7SL149P,RPL5P23,DKK4,THAP1,RN7SL806P,MIR4469,VN1R46P,AFG3L2P1,RNU6-104P,LONRF1,LINC00681,CNOT7,PDGFRL,FGL1,ASAH1,NAT2,SH2D4A,INTS10,SLC18A1,ATP6V1B2,LZTS1,LZTS1-AS1,LINC02153,XPO7,NPM2,DMTN,FAM160B2,HR,BMP1,POLR3D,PPP3CC,SORBS3,PDLIM2,CCAR2,BIN3,EGR3,RHOBTB2,TNFRSF10D,CHMP7,R3HCC1,ENTPD4,SLC25A37,ADAM28,ADAMDEC1,NEFL,CDCA2,SDAD1P1,PNMA2,ADRA1A,STMN4,TRIM35,CHRNA2,GULOP,CLU,CCDC25,PBK,PNOC,ZNF395,HMBOX1-IT1,DUSP4,LINC00589,LINC02209,SARAF,DCTN6,GTF2E2,GSR,UBXN8,TEX15,PURG,TTI2,MAK16,LINC01288,ZNF703,PLPBP,ADGRA2,BRF2,EIF4EBP1,LSM1,BAG4,RNF5P1,HTRA4,TM2D2,RPL3P10,ADAM2,IDO1,SIRLNT,GOLGA7,GINS4,GPAT4,NKX6-3,AP3M2,IKBKB,POLB,VDAC3,SMIM19,CHRNA6,FNTA,RNU1-124P,HGSNAT,POTEA,TRMT9B,DLC1,MSR1,MICU3,ZDHHC2,VPS37A,MTMR7,SLC7A2,MTUS1,PCM1,NAT1,CSGALNACT1,GFRA2,LGI3,PIWIL2,SLC39A14,PEBP4,TNFRSF10A,LOXL2,ADAM7,DOCK5,KCTD9,EBF2,PPP2R2A,BNIP3L,DPYSL2,PTK2B,EPHX2,SCARA3,ESCO2,SCARA5,NUGGC,ELP3,FBXO16,FZD3,EXTL3,INTS9,HMBOX1,KIF13B,LINC02099,LEPROTL1,PPP2CB,WRN,NRG1-IT1,FUT10,KCNU1,LINC01605,RAB11FIP1,ASH2L,DDHD2,NSD3,LETM2,FGFR1,C8orf86,PLEKHA2,ADAM9,ADAM32,ADAM5,ADAM3A,ADAM18,IDO2,SFRP1,ANK1,PLAT,SLC20A2,CHRNB3,RNF170,POMK,SGCZ,TUSC3,PSD3,LPL,TNFRSF10B,RBPMS,NRG1,UNC5D,ERLIN2,TACC1,ZMAT4,HOOK3,RNF122,KAT6A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002276
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-842P,MTND4P7,RNA5SP255,C8orf48,EIF4EP5,RNU7-153P,RNU6-397P,MIR383,PPM1AP1,MRPL49P2,RN7SL474P,FGF20,ADAM24P,MIR548V,RNA5SP256,MTND4LP26,NATP,RPL35P6,RPL30P9,RNU6-892P,RNA5SP257,TMEM97P2,OR6R2P,DOK2,FGF17,NUDT18,REEP4,SFTPC,PHYHIP,MIR320A,RNU6-336P,C8orf58,RN7SL303P,TNFRSF10C,TNFRSF10A-AS1,RPL23AP55,RNU4-71P,SINHCAFP3,NKX3-1,NKX2-6,STC1,RNU1-148P,NEFM,MIR6841,MIR6876,GNRH1,RNA5SP258,COX6B1P4,MIR548H4,MIR6842,MIR6843,RNU6-1086P,MIR3622B,MIR3622A,RNU6-1276P,MIR4287,RPL5P22,RNU6-178P,MIR4288,RNA5SP259,EXTL3-AS1,INTS9-AS1,RNA5SP260,HMGB1P23,RPL17P33,MIR3148,MAP2K1P1,RNU6-1218P,RPS15AP24,MBOAT4,HSPA8P11,PPIAP84,TUBBP1,RBPMS-AS1,SMIM18,RNU5A-3P,SUMO2P16,KCTD9P6,RNA5SP261,RNA5SP262,RNA5SP263,NRG1-IT3,RNU6-663P,MTND1P6,MTND2P32,RANP9,RNU6-528P,SNORD13,RPL10P18,RN7SL621P,DUSP26,BUD31P1,RN7SL457P,VENTXP5,RPL10AP3,LSM12P1,MTCYBP19,MTND6P19,MTND5P41,RNU6-533P,RPL23P10,RNA5SP264,TPT1P8,SMARCE1P4,RNU6-607P,RN7SL709P,GOT1L1,ADRB3,RPL12P48,RNU6-988P,STAR,RNU6-323P,PLPP5,RPS20P22,TCIM,RNU6-356P,MIR548AO,RPS29P2,RNU6-895P,SNORD65B,KRT18P37,MIR486-1,MIR486-2,RN7SL149P,RPL5P23,DKK4,THAP1,RN7SL806P,MIR4469,VN1R46P,AFG3L2P1,RNU6-104P,SNX18P27,LONRF1,LINC00681,CNOT7,PDGFRL,FGL1,ASAH1,NAT2,SH2D4A,INTS10,SLC18A1,ATP6V1B2,LZTS1,LZTS1-AS1,LINC02153,XPO7,NPM2,DMTN,FAM160B2,HR,BMP1,POLR3D,PPP3CC,SORBS3,PDLIM2,CCAR2,BIN3,EGR3,RHOBTB2,TNFRSF10D,CHMP7,R3HCC1,ENTPD4,SLC25A37,ADAM28,ADAMDEC1,NEFL,CDCA2,SDAD1P1,PNMA2,ADRA1A,STMN4,TRIM35,CHRNA2,GULOP,CLU,CCDC25,PBK,PNOC,ZNF395,HMBOX1-IT1,DUSP4,LINC00589,LINC02209,SARAF,DCTN6,GTF2E2,GSR,UBXN8,TEX15,PURG,TTI2,MAK16,LINC01288,ZNF703,PLPBP,ADGRA2,BRF2,EIF4EBP1,LSM1,BAG4,RNF5P1,HTRA4,TM2D2,RPL3P10,ADAM2,IDO1,SIRLNT,GOLGA7,GINS4,GPAT4,NKX6-3,AP3M2,IKBKB,POLB,VDAC3,SMIM19,CHRNA6,FNTA,RNU1-124P,HGSNAT,POTEA,TRMT9B,DLC1,MSR1,MICU3,ZDHHC2,VPS37A,MTMR7,SLC7A2,MTUS1,PCM1,NAT1,CSGALNACT1,GFRA2,LGI3,PIWIL2,SLC39A14,PEBP4,TNFRSF10A,LOXL2,ADAM7,DOCK5,KCTD9,EBF2,PPP2R2A,BNIP3L,DPYSL2,PTK2B,EPHX2,SCARA3,ESCO2,SCARA5,NUGGC,ELP3,FBXO16,FZD3,EXTL3,INTS9,HMBOX1,KIF13B,LINC02099,LEPROTL1,PPP2CB,WRN,NRG1-IT1,FUT10,KCNU1,LINC01605,RAB11FIP1,ASH2L,DDHD2,NSD3,LETM2,FGFR1,C8orf86,PLEKHA2,ADAM9,ADAM32,ADAM5,ADAM3A,ADAM18,IDO2,SFRP1,ANK1,PLAT,SLC20A2,CHRNB3,RNF170,POMK,SGCZ,TUSC3,PSD3,LPL,TNFRSF10B,RBPMS,NRG1,UNC5D,ERLIN2,TACC1,ZMAT4,HOOK3,RNF122,KAT6A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004207
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPS3AP35,OR7E8P,OR7E15P,OR7E10P,MIR5692A2,MIR3926-1,MIR3926-2,RNU6-842P,MTND4P7,RNA5SP255,C8orf48,EIF4EP5,RNU7-153P,RNU6-397P,MIR383,PPM1AP1,MRPL49P2,RN7SL474P,FGF20,ADAM24P,MIR548V,RNA5SP256,MTND4LP26,NATP,RPL35P6,RPL30P9,RNU6-892P,RNA5SP257,TMEM97P2,OR6R2P,DOK2,FGF17,NUDT18,REEP4,SFTPC,PHYHIP,MIR320A,RNU6-336P,C8orf58,RN7SL303P,TNFRSF10C,TNFRSF10A-AS1,RPL23AP55,RNU4-71P,SINHCAFP3,NKX3-1,NKX2-6,STC1,RNU1-148P,NEFM,MIR6841,MIR6876,GNRH1,RNA5SP258,COX6B1P4,MIR548H4,MIR6842,MIR6843,RNU6-1086P,MIR3622B,MIR3622A,RNU6-1276P,MIR4287,RPL5P22,RNU6-178P,MIR4288,RNA5SP259,EXTL3-AS1,INTS9-AS1,RNA5SP260,HMGB1P23,RPL17P33,MIR3148,MAP2K1P1,RNU6-1218P,RPS15AP24,MBOAT4,HSPA8P11,PPIAP84,TUBBP1,RBPMS-AS1,SMIM18,RNU5A-3P,SUMO2P16,KCTD9P6,RNA5SP261,RNA5SP262,RNA5SP263,NRG1-IT3,RNU6-663P,MTND1P6,MTND2P32,RANP9,RNU6-528P,SNORD13,RPL10P18,RN7SL621P,DUSP26,BUD31P1,RN7SL457P,VENTXP5,RPL10AP3,LSM12P1,MTCYBP19,MTND6P19,MTND5P41,RNU6-533P,RPL23P10,RNA5SP264,TPT1P8,SMARCE1P4,RNU6-607P,RN7SL709P,GOT1L1,ADRB3,RPL12P48,RNU6-988P,STAR,RNU6-323P,PLPP5,RPS20P22,TCIM,RNU6-356P,MIR548AO,RPS29P2,RNU6-895P,SNORD65B,KRT18P37,MIR486-1,MIR486-2,RN7SL149P,RPL5P23,DKK4,THAP1,RN7SL806P,MIR4469,VN1R46P,LONRF1,LINC00681,CNOT7,PDGFRL,FGL1,ASAH1,NAT2,SH2D4A,INTS10,SLC18A1,ATP6V1B2,LZTS1,LZTS1-AS1,LINC02153,XPO7,NPM2,DMTN,FAM160B2,HR,BMP1,POLR3D,PPP3CC,SORBS3,PDLIM2,CCAR2,BIN3,EGR3,RHOBTB2,TNFRSF10D,CHMP7,R3HCC1,ENTPD4,SLC25A37,ADAM28,ADAMDEC1,NEFL,CDCA2,SDAD1P1,PNMA2,ADRA1A,STMN4,TRIM35,CHRNA2,GULOP,CLU,CCDC25,PBK,PNOC,ZNF395,HMBOX1-IT1,DUSP4,LINC00589,LINC02209,SARAF,DCTN6,GTF2E2,GSR,UBXN8,TEX15,PURG,TTI2,MAK16,LINC01288,ZNF703,PLPBP,ADGRA2,BRF2,EIF4EBP1,LSM1,BAG4,RNF5P1,HTRA4,TM2D2,RPL3P10,ADAM2,IDO1,SIRLNT,GOLGA7,GINS4,GPAT4,NKX6-3,AP3M2,IKBKB,POLB,VDAC3,SMIM19,CHRNA6,FNTA,RNU1-124P,HGSNAT,TRMT9B,DLC1,MSR1,MICU3,ZDHHC2,VPS37A,MTMR7,SLC7A2,MTUS1,PCM1,NAT1,CSGALNACT1,GFRA2,LGI3,PIWIL2,SLC39A14,PEBP4,TNFRSF10A,LOXL2,ADAM7,DOCK5,KCTD9,EBF2,PPP2R2A,BNIP3L,DPYSL2,PTK2B,EPHX2,SCARA3,ESCO2,SCARA5,NUGGC,ELP3,FBXO16,FZD3,EXTL3,INTS9,HMBOX1,KIF13B,LINC02099,LEPROTL1,PPP2CB,WRN,NRG1-IT1,FUT10,KCNU1,LINC01605,RAB11FIP1,ASH2L,DDHD2,NSD3,LETM2,FGFR1,C8orf86,PLEKHA2,ADAM9,ADAM32,ADAM5,ADAM3A,ADAM18,IDO2,SFRP1,ANK1,PLAT,SLC20A2,CHRNB3,RNF170,POMK,SGCZ,TUSC3,PSD3,LPL,TNFRSF10B,RBPMS,NRG1,UNC5D,ERLIN2,TACC1,ZMAT4,HOOK3,RNF122,KAT6A
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_1
Unknown
ASAH1,ADRB3,CHRNA2,CLU,CHRNB3,NATP,NAT1,ADRA1A,BNIP3L,ANK1,ATP6V1B2,BMP1,POLR3D,NAT2,EXTL3,DPYSL2,PTK2B,EIF4EBP1,FGFR1,FGL1,EGR3,ADAM3A,DMTN,EPHX2,FNTA,DUSP4,LSM1,DKK4,FGF20,ADAMDEC1,SCARA3,PURG,CNOT7,SARAF,GOLGA7,SLC25A37,MAP2K1P1,ZDHHC2,ELP3,INTS10,CCDC25,THAP1,KCTD9,NSD3,PIWIL2,BRF2,ZNF395,INTS9,CCAR2,TRMT9B,TEX15,HR,MTUS1,PBK,TPT1P8,TCIM,BIN3,PLEKHA2,CSGALNACT1,DUSP26,RNF122,PDLIM2,NUDT18,HMBOX1,EBF2,ZMAT4,SH2D4A,ZNF703,GINS4,STMN4,REEP4,HOOK3,TTI2,RNF170,RAB11FIP1,POMK,TM2D2,DOCK5,MAK16,FUT10,CHMP7,TUBBP1,LONRF1,PLPP5,SMIM19,RPL10AP3,NKX2-6,GPAT4,VPS37A,UNC5D,SGCZ,HGSNAT,PPM1AP1,GOT1L1,LETM2,C8orf48,LGI3,PEBP4,FBXO16,CDCA2,NKX6-3,ESCO2,HTRA4,KCNU1,SDAD1P1,R3HCC1,IDO2,ADAM32,GULOP,GNRH1,GFRA2,IKBKB,NRG1,GSR,IDO1,GTF2E2,ADAM2,ADAM5,LINC02209,POTEA,SCARA5,MICU3,RNF5P1,PSME2P5,LINC02153,OR7E8P,MRPL49P2,AFG3L2P1,NUGGC,C8orf86,HSPA8P11,KRT18P37,FAM90A25P,RPL5P22,MIR320A,OR6R2P,LINC00589,RPS29P2,C8orf58,MBOAT4,KCTD9P6,MIR383,MIR486-1,VENTXP5,SMARCE1P4,RPS15AP24,CCT3P1,SINHCAFP3,RPL17P33,ADAM24P,RPL32P19,TMEM97P2,FAM86B2,SNORD13,LSM12P1,BTF3P3,RBPMS-AS1,RPL3P10,LPL,NEFL,MSR1,LOXL2,NKX3-1,NEFM,EIF4EP5,VN1R46P,RPL35P6,RPL30P9,RPL5P23,RPS20P22,RPL23P10,RPL23AP55,RPS3AP34,DNAJB6P2,RPS3AP35,MIR548H4,ALG1L12P,MIR3926-1,MIR3148,MIR4287,MIR3622B,MIR3622A,MIR4288,COX6B1P4,MIR548V,MIR3926-2,SMIM18,LINC01605,MIR4469,MTND1P6,RNA5SP258,RNA5SP257,RNA5SP260,MIR548AO,RNA5SP259,RPL10P18,RNA5SP262,RNA5SP264,RNA5SP256,RNA5SP261,NRG1-IT1,MIR5692A2,RNA5SP255,MTND4P7,MTND2P32,RANP9,LZTS1-AS1,SNX18P27,RNU5A-3P,HMGB1P23,NRG1-IT3,LINC00681,RPL12P48,PCM1,PDGFRL,POLB,PPP2R2A,PPP3CC,PPP2CB,PLAT,PNOC,LINC02099,EXTL3-AS1,MIR6841,MIR6842,MIR486-2,MIR6843,MIR6876,LINC01288,LINC02866,RNA5SP263,RNU7-153P,STAR,SLC18A1,SLC7A2,SFRP1,SFTPC,VDAC3,STC1,SLC20A2,TACC1,BUD31P1,RNU6-1218P,RNU6-178P,RN7SL806P,RNU6-528P,RNU6-104P,RNU6-397P,RNU6-356P,RNU6-988P,RNU6-895P,RN7SL621P,RN7SL303P,RN7SL457P,RNU6-323P,RN7SL149P,SUMO2P16,RNU4-71P,RNU6-336P,RN7SL709P,CYP4F44P,RN7SL474P,RNU6-892P,RNU6-533P,HMBOX1-IT1,RNU6-1086P,MTND6P19,RNU6-607P,RNU1-124P,RNU6-663P,RNU1-148P,RNU6-1276P,MTND4LP26,RNU6-842P,MTCYBP19,MTND5P41,ENPP7P6,SNORD38D,SNORD65B,INTS9-AS1,TNFRSF10A-AS1,PPIAP84,SIRLNT,ADAM9,TNFRSF10A,TNFRSF10B,TUSC3,UBXN8,TNFRSF10C,CHRNA6,ADAM7,OR7E15P,TNFRSF10D,ADAM18,FZD3,FGF17,WRN,KAT6A,HIKESHIP3,MTMR7,ASH2L,ENTPD4,PHYHIP,DOK2,SORBS3,BAG4,PNMA2,OR7E10P,PLPBP,NPM2,AP3M2,RBPMS,LZTS1,ERLIN2,ADAM28,DCTN6,DLC1,KIF13B,DDHD2,ADGRA2,XPO7,RHOBTB2,TRIM35,PSD3,SLC39A14,LEPROTL1
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_2
Unknown
ASAH1,ADRB3,CHRNA2,CLU,CHRNB3,NATP,NAT1,ADRA1A,BNIP3L,ANK1,ATP6V1B2,BMP1,POLR3D,NAT2,EXTL3,DPYSL2,PTK2B,EIF4EBP1,FGFR1,FGL1,EGR3,ADAM3A,DMTN,EPHX2,FNTA,DUSP4,LSM1,DKK4,FGF20,ADAMDEC1,SCARA3,PURG,CNOT7,SARAF,GOLGA7,SLC25A37,MAP2K1P1,ZDHHC2,ELP3,INTS10,CCDC25,THAP1,KCTD9,NSD3,PIWIL2,BRF2,ZNF395,INTS9,CCAR2,TRMT9B,TEX15,HR,MTUS1,PBK,TPT1P8,TCIM,BIN3,PLEKHA2,CSGALNACT1,DUSP26,RNF122,PDLIM2,NUDT18,HMBOX1,EBF2,ZMAT4,SH2D4A,ZNF703,GINS4,STMN4,REEP4,HOOK3,TTI2,RNF170,RAB11FIP1,POMK,TM2D2,DOCK5,MAK16,FUT10,CHMP7,TUBBP1,LONRF1,PLPP5,SMIM19,RPL10AP3,NKX2-6,GPAT4,VPS37A,UNC5D,SGCZ,HGSNAT,PPM1AP1,GOT1L1,LETM2,C8orf48,LGI3,PEBP4,FBXO16,CDCA2,NKX6-3,ESCO2,HTRA4,KCNU1,SDAD1P1,R3HCC1,IDO2,ADAM32,GULOP,GNRH1,GFRA2,IKBKB,NRG1,GSR,IDO1,GTF2E2,ADAM2,ADAM5,LINC02209,POTEA,SCARA5,MICU3,RNF5P1,PSME2P5,LINC02153,OR7E8P,MRPL49P2,AFG3L2P1,NUGGC,C8orf86,HSPA8P11,KRT18P37,RPL5P22,MIR320A,OR6R2P,LINC00589,RPS29P2,C8orf58,MBOAT4,KCTD9P6,MIR383,MIR486-1,VENTXP5,SMARCE1P4,RPS15AP24,CCT3P1,SINHCAFP3,RPL17P33,ADAM24P,RPL32P19,TMEM97P2,SNORD13,LSM12P1,BTF3P3,RBPMS-AS1,RPL3P10,LPL,NEFL,MSR1,LOXL2,NKX3-1,NEFM,EIF4EP5,VN1R46P,RPL35P6,RPL30P9,RPL5P23,RPS20P22,RPL23P10,RPL23AP55,DNAJB6P2,MIR548H4,MIR3926-1,MIR3148,MIR4287,MIR3622B,MIR3622A,MIR4288,COX6B1P4,MIR548V,MIR3926-2,SMIM18,LINC01605,MIR4469,MTND1P6,RNA5SP258,RNA5SP257,RNA5SP260,MIR548AO,RNA5SP259,RPL10P18,RNA5SP262,RNA5SP264,RNA5SP256,RNA5SP261,NRG1-IT1,MIR5692A2,RNA5SP255,MTND4P7,MTND2P32,RANP9,LZTS1-AS1,SNX18P27,RNU5A-3P,HMGB1P23,NRG1-IT3,LINC00681,RPL12P48,PCM1,PDGFRL,POLB,PPP2R2A,PPP3CC,PPP2CB,PLAT,PNOC,LINC02099,EXTL3-AS1,MIR6841,MIR6842,MIR486-2,MIR6843,MIR6876,LINC01288,LINC02866,RNA5SP263,RNU7-153P,STAR,SLC18A1,SLC7A2,SFRP1,SFTPC,VDAC3,STC1,SLC20A2,TACC1,BUD31P1,RNU6-1218P,RNU6-178P,RN7SL806P,RNU6-528P,RNU6-104P,RNU6-397P,RNU6-356P,RNU6-988P,RNU6-895P,RN7SL621P,RN7SL303P,RN7SL457P,RNU6-323P,RN7SL149P,SUMO2P16,RNU4-71P,RNU6-336P,RN7SL709P,CYP4F44P,RN7SL474P,RNU6-892P,RNU6-533P,HMBOX1-IT1,RNU6-1086P,MTND6P19,RNU6-607P,RNU1-124P,RNU6-663P,RNU1-148P,RNU6-1276P,MTND4LP26,RNU6-842P,MTCYBP19,MTND5P41,SNORD38D,SNORD65B,INTS9-AS1,TNFRSF10A-AS1,PPIAP84,SIRLNT,ADAM9,TNFRSF10A,TNFRSF10B,TUSC3,UBXN8,TNFRSF10C,CHRNA6,ADAM7,OR7E15P,TNFRSF10D,ADAM18,FZD3,FGF17,WRN,KAT6A,HIKESHIP3,MTMR7,ASH2L,ENTPD4,PHYHIP,DOK2,SORBS3,BAG4,PNMA2,OR7E10P,PLPBP,NPM2,AP3M2,RBPMS,LZTS1,ERLIN2,ADAM28,DCTN6,DLC1,KIF13B,DDHD2,ADGRA2,XPO7,RHOBTB2,TRIM35,PSD3,SLC39A14,LEPROTL1
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_3
Unknown
ASAH1,ADRB3,CHRNA2,CLU,CHRNB3,NATP,NAT1,ADRA1A,BNIP3L,ANK1,ATP6V1B2,BMP1,POLR3D,NAT2,EXTL3,DPYSL2,PTK2B,EIF4EBP1,FGFR1,FGL1,EGR3,ADAM3A,DMTN,EPHX2,FNTA,DUSP4,LSM1,DKK4,FGF20,ADAMDEC1,SCARA3,PURG,CNOT7,SARAF,GOLGA7,SLC25A37,MAP2K1P1,ZDHHC2,ELP3,INTS10,CCDC25,THAP1,KCTD9,NSD3,PIWIL2,BRF2,ZNF395,INTS9,CCAR2,TRMT9B,TEX15,HR,MTUS1,PBK,TPT1P8,TCIM,BIN3,PLEKHA2,CSGALNACT1,DUSP26,RNF122,PDLIM2,NUDT18,HMBOX1,EBF2,ZMAT4,SH2D4A,ZNF703,GINS4,STMN4,REEP4,HOOK3,TTI2,RNF170,RAB11FIP1,POMK,TM2D2,DOCK5,MAK16,FUT10,CHMP7,TUBBP1,LONRF1,PLPP5,SMIM19,RPL10AP3,NKX2-6,GPAT4,VPS37A,UNC5D,SGCZ,HGSNAT,PPM1AP1,GOT1L1,LETM2,C8orf48,LGI3,PEBP4,FBXO16,CDCA2,NKX6-3,ESCO2,HTRA4,KCNU1,SDAD1P1,R3HCC1,IDO2,ADAM32,GULOP,GNRH1,GFRA2,IKBKB,NRG1,GSR,IDO1,GTF2E2,ADAM2,ADAM5,LINC02209,POTEA,SCARA5,MICU3,RNF5P1,PSME2P5,LINC02153,MRPL49P2,AFG3L2P1,NUGGC,C8orf86,HSPA8P11,KRT18P37,RPL5P22,MIR320A,OR6R2P,LINC00589,RPS29P2,C8orf58,MBOAT4,KCTD9P6,MIR383,MIR486-1,VENTXP5,SMARCE1P4,RPS15AP24,CCT3P1,SINHCAFP3,RPL17P33,ADAM24P,RPL32P19,TMEM97P2,SNORD13,LSM12P1,BTF3P3,RBPMS-AS1,RPL3P10,LPL,NEFL,MSR1,LOXL2,NKX3-1,NEFM,EIF4EP5,VN1R46P,RPL35P6,RPL30P9,RPL5P23,RPS20P22,RPL23P10,RPL23AP55,DNAJB6P2,MIR548H4,MIR3926-1,MIR3148,MIR4287,MIR3622B,MIR3622A,MIR4288,COX6B1P4,MIR548V,MIR3926-2,SMIM18,LINC01605,MIR4469,MTND1P6,RNA5SP258,RNA5SP257,RNA5SP260,MIR548AO,RNA5SP259,RPL10P18,RNA5SP262,RNA5SP264,RNA5SP256,RNA5SP261,NRG1-IT1,MIR5692A2,RNA5SP255,MTND4P7,MTND2P32,RANP9,LZTS1-AS1,SNX18P27,RNU5A-3P,HMGB1P23,NRG1-IT3,LINC00681,RPL12P48,PCM1,PDGFRL,POLB,PPP2R2A,PPP3CC,PPP2CB,PLAT,PNOC,LINC02099,EXTL3-AS1,MIR6841,MIR6842,MIR486-2,MIR6843,MIR6876,LINC01288,LINC02866,RNA5SP263,RNU7-153P,STAR,SLC18A1,SLC7A2,SFRP1,SFTPC,VDAC3,STC1,SLC20A2,TACC1,BUD31P1,RNU6-1218P,RNU6-178P,RN7SL806P,RNU6-528P,RNU6-104P,RNU6-397P,RNU6-356P,RNU6-988P,RNU6-895P,RN7SL621P,RN7SL303P,RN7SL457P,RNU6-323P,RN7SL149P,SUMO2P16,RNU4-71P,RNU6-336P,RN7SL709P,CYP4F44P,RN7SL474P,RNU6-892P,RNU6-533P,HMBOX1-IT1,RNU6-1086P,MTND6P19,RNU6-607P,RNU1-124P,RNU6-663P,RNU1-148P,RNU6-1276P,MTND4LP26,RNU6-842P,MTCYBP19,MTND5P41,SNORD38D,SNORD65B,INTS9-AS1,TNFRSF10A-AS1,PPIAP84,SIRLNT,ADAM9,TNFRSF10A,TNFRSF10B,TUSC3,UBXN8,TNFRSF10C,CHRNA6,ADAM7,TNFRSF10D,ADAM18,FZD3,FGF17,WRN,KAT6A,HIKESHIP3,MTMR7,ASH2L,ENTPD4,PHYHIP,DOK2,SORBS3,BAG4,PNMA2,OR7E10P,PLPBP,NPM2,AP3M2,RBPMS,LZTS1,ERLIN2,ADAM28,DCTN6,DLC1,KIF13B,DDHD2,ADGRA2,XPO7,RHOBTB2,TRIM35,PSD3,SLC39A14,LEPROTL1
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_4
Unknown
ASAH1,ADRB3,CHRNA2,CLU,CHRNB3,NATP,NAT1,ADRA1A,BNIP3L,ANK1,ATP6V1B2,BMP1,POLR3D,NAT2,EXTL3,DPYSL2,PTK2B,EIF4EBP1,FGFR1,FGL1,EGR3,ADAM3A,DMTN,EPHX2,FNTA,DUSP4,LSM1,DKK4,FGF20,ADAMDEC1,SCARA3,PURG,CNOT7,SARAF,GOLGA7,SLC25A37,MAP2K1P1,ZDHHC2,ELP3,INTS10,CCDC25,THAP1,KCTD9,NSD3,PIWIL2,BRF2,ZNF395,INTS9,CCAR2,TRMT9B,TEX15,HR,MTUS1,PBK,TPT1P8,TCIM,BIN3,PLEKHA2,CSGALNACT1,DUSP26,RNF122,PDLIM2,NUDT18,HMBOX1,EBF2,ZMAT4,SH2D4A,ZNF703,GINS4,STMN4,REEP4,HOOK3,TTI2,RNF170,RAB11FIP1,POMK,TM2D2,DOCK5,MAK16,FUT10,CHMP7,TUBBP1,LONRF1,PLPP5,SMIM19,RPL10AP3,NKX2-6,GPAT4,VPS37A,UNC5D,SGCZ,HGSNAT,PPM1AP1,GOT1L1,LETM2,C8orf48,LGI3,PEBP4,FBXO16,CDCA2,NKX6-3,ESCO2,HTRA4,KCNU1,SDAD1P1,R3HCC1,IDO2,ADAM32,GULOP,GNRH1,GFRA2,IKBKB,NRG1,GSR,IDO1,GTF2E2,ADAM2,ADAM5,LINC02209,POTEA,SCARA5,MICU3,RNF5P1,PSME2P5,LINC02153,MRPL49P2,AFG3L2P1,NUGGC,C8orf86,HSPA8P11,KRT18P37,RPL5P22,MIR320A,OR6R2P,LINC00589,RPS29P2,C8orf58,MBOAT4,KCTD9P6,MIR383,MIR486-1,VENTXP5,SMARCE1P4,RPS15AP24,CCT3P1,SINHCAFP3,RPL17P33,ADAM24P,RPL32P19,TMEM97P2,SNORD13,LSM12P1,BTF3P3,RBPMS-AS1,RPL3P10,LPL,NEFL,MSR1,LOXL2,NKX3-1,NEFM,EIF4EP5,VN1R46P,RPL35P6,RPL30P9,RPL5P23,RPS20P22,RPL23P10,RPL23AP55,DNAJB6P2,MIR548H4,MIR3926-1,MIR3148,MIR4287,MIR3622B,MIR3622A,MIR4288,COX6B1P4,MIR548V,MIR3926-2,SMIM18,LINC01605,MIR4469,MTND1P6,RNA5SP258,RNA5SP257,RNA5SP260,MIR548AO,RNA5SP259,RPL10P18,RNA5SP262,RNA5SP264,RNA5SP256,RNA5SP261,NRG1-IT1,MIR5692A2,RNA5SP255,MTND4P7,MTND2P32,RANP9,LZTS1-AS1,SNX18P27,RNU5A-3P,HMGB1P23,NRG1-IT3,LINC00681,RPL12P48,PCM1,PDGFRL,POLB,PPP2R2A,PPP3CC,PPP2CB,PLAT,PNOC,LINC02099,EXTL3-AS1,MIR6841,MIR6842,MIR486-2,MIR6843,MIR6876,LINC01288,LINC02866,RNA5SP263,RNU7-153P,STAR,SLC18A1,SLC7A2,SFRP1,SFTPC,VDAC3,STC1,SLC20A2,TACC1,BUD31P1,RNU6-1218P,RNU6-178P,RN7SL806P,RNU6-528P,RNU6-104P,RNU6-397P,RNU6-356P,RNU6-988P,RNU6-895P,RN7SL621P,RN7SL303P,RN7SL457P,RNU6-323P,RN7SL149P,SUMO2P16,RNU4-71P,RNU6-336P,RN7SL709P,CYP4F44P,RN7SL474P,RNU6-892P,RNU6-533P,HMBOX1-IT1,RNU6-1086P,MTND6P19,RNU6-607P,RNU1-124P,RNU6-663P,RNU1-148P,RNU6-1276P,MTND4LP26,RNU6-842P,MTCYBP19,MTND5P41,SNORD38D,SNORD65B,INTS9-AS1,TNFRSF10A-AS1,PPIAP84,SIRLNT,ADAM9,TNFRSF10A,TNFRSF10B,TUSC3,UBXN8,TNFRSF10C,CHRNA6,ADAM7,OR7E15P,TNFRSF10D,ADAM18,FZD3,FGF17,WRN,KAT6A,HIKESHIP3,MTMR7,ASH2L,ENTPD4,PHYHIP,DOK2,SORBS3,BAG4,PNMA2,OR7E10P,PLPBP,NPM2,AP3M2,RBPMS,LZTS1,ERLIN2,ADAM28,DCTN6,DLC1,KIF13B,DDHD2,ADGRA2,XPO7,RHOBTB2,TRIM35,PSD3,SLC39A14,LEPROTL1
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_5
Unknown
ASAH1,ADRB3,CHRNA2,CLU,CHRNB3,NATP,NAT1,ADRA1A,BNIP3L,ANK1,ATP6V1B2,BMP1,POLR3D,NAT2,EXTL3,DPYSL2,PTK2B,EIF4EBP1,FGFR1,FGL1,EGR3,ADAM3A,DMTN,EPHX2,FNTA,DUSP4,LSM1,DKK4,FGF20,ADAMDEC1,SCARA3,PURG,CNOT7,SARAF,GOLGA7,SLC25A37,MAP2K1P1,ZDHHC2,ELP3,INTS10,CCDC25,THAP1,KCTD9,NSD3,PIWIL2,BRF2,ZNF395,INTS9,CCAR2,TRMT9B,TEX15,HR,MTUS1,PBK,TPT1P8,TCIM,BIN3,PLEKHA2,CSGALNACT1,DUSP26,RNF122,PDLIM2,NUDT18,HMBOX1,EBF2,ZMAT4,SH2D4A,ZNF703,GINS4,STMN4,REEP4,HOOK3,TTI2,RNF170,RAB11FIP1,POMK,TM2D2,DOCK5,MAK16,FUT10,CHMP7,TUBBP1,LONRF1,PLPP5,SMIM19,RPL10AP3,NKX2-6,GPAT4,VPS37A,UNC5D,SGCZ,HGSNAT,PPM1AP1,GOT1L1,LETM2,C8orf48,LGI3,PEBP4,FBXO16,CDCA2,NKX6-3,ESCO2,HTRA4,KCNU1,SDAD1P1,R3HCC1,IDO2,ADAM32,GULOP,GNRH1,GFRA2,IKBKB,NRG1,GSR,IDO1,GTF2E2,ADAM2,DEFB109A,ADAM5,LINC02209,POTEA,SCARA5,MICU3,RNF5P1,PSME2P5,LINC02153,OR7E8P,MRPL49P2,AFG3L2P1,ZNF705CP,NUGGC,C8orf86,HSPA8P11,KRT18P37,FAM90A25P,RPL5P22,MIR320A,OR6R2P,LINC00589,RPS29P2,C8orf58,MBOAT4,KCTD9P6,MIR383,MIR486-1,DEFB108E,VENTXP5,SMARCE1P4,RPS15AP24,CCT3P1,SINHCAFP3,RPL17P33,ADAM24P,RPL32P19,TMEM97P2,FAM86B2,SNORD13,LSM12P1,BTF3P3,RBPMS-AS1,RPL3P10,LPL,NEFL,MSR1,LOXL2,NKX3-1,NEFM,EIF4EP5,FAM66A,VN1R46P,RPL35P6,RPL30P9,RPL5P23,RPS20P22,RPL23P10,RPL23AP55,RPS3AP34,DNAJB6P2,RPS3AP35,MIR548H4,ALG1L12P,MIR3926-1,MIR3148,MIR4287,MIR3622B,MIR3622A,MIR4288,COX6B1P4,MIR548V,MIR3926-2,SMIM18,LINC01605,MIR4469,MTND1P6,RNA5SP258,RNA5SP257,RNA5SP260,MIR548AO,RNA5SP259,RPL10P18,RNA5SP262,RNA5SP264,RNA5SP256,RNA5SP261,NRG1-IT1,MIR5692A2,RNA5SP255,MTND4P7,MTND2P32,RANP9,LZTS1-AS1,SNX18P27,RNU5A-3P,HMGB1P23,NRG1-IT3,LINC00681,RPL12P48,PCM1,PDGFRL,POLB,PPP2R2A,PPP3CC,PPP2CB,PLAT,PNOC,LINC02099,EXTL3-AS1,MIR6841,MIR6842,MIR486-2,MIR6843,MIR6876,LINC01288,LINC02866,RNA5SP263,RNU7-153P,STAR,SLC18A1,SLC7A2,SFRP1,SFTPC,VDAC3,STC1,SLC20A2,TACC1,BUD31P1,RNU6-1218P,RNU6-178P,RN7SL806P,RNU6-528P,RNU6-104P,RNU6-397P,RNU6-356P,RNU6-988P,RNU6-895P,RN7SL621P,RN7SL303P,RN7SL457P,RNU6-323P,RN7SL149P,SUMO2P16,RNU4-71P,RNU6-336P,RN7SL709P,CYP4F44P,RN7SL474P,RNU6-892P,RNU6-533P,HMBOX1-IT1,RNU6-1086P,MTND6P19,RNU6-607P,RNU1-124P,RNU6-663P,RNU1-148P,RNU6-1276P,MTND4LP26,RNU6-842P,MTCYBP19,MTND5P41,ENPP7P6,SNORD38D,SNORD65B,INTS9-AS1,TNFRSF10A-AS1,PPIAP84,SIRLNT,ADAM9,TNFRSF10A,TNFRSF10B,TUSC3,UBXN8,TNFRSF10C,CHRNA6,ADAM7,OR7E15P,TNFRSF10D,ADAM18,FZD3,FGF17,WRN,KAT6A,HIKESHIP3,MTMR7,ASH2L,ENTPD4,PHYHIP,DOK2,SORBS3,BAG4,PNMA2,OR7E10P,PLPBP,NPM2,AP3M2,RBPMS,LZTS1,ERLIN2,ADAM28,DCTN6,DLC1,KIF13B,DDHD2,ADGRA2,XPO7,RHOBTB2,TRIM35,PSD3,SLC39A14,LEPROTL1
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_6
Unknown
ASAH1,ADRB3,CHRNA2,CLU,CHRNB3,NATP,NAT1,ADRA1A,BNIP3L,ANK1,ATP6V1B2,BMP1,POLR3D,NAT2,EXTL3,DPYSL2,PTK2B,EIF4EBP1,FGFR1,FGL1,EGR3,ADAM3A,DMTN,EPHX2,FNTA,DUSP4,LSM1,DKK4,FGF20,ADAMDEC1,SCARA3,PURG,CNOT7,SARAF,GOLGA7,SLC25A37,MAP2K1P1,ZDHHC2,ELP3,INTS10,CCDC25,THAP1,KCTD9,NSD3,PIWIL2,BRF2,ZNF395,INTS9,CCAR2,TRMT9B,TEX15,HR,MTUS1,PBK,TPT1P8,TCIM,BIN3,PLEKHA2,CSGALNACT1,DUSP26,RNF122,PDLIM2,NUDT18,HMBOX1,EBF2,ZMAT4,SH2D4A,ZNF703,GINS4,STMN4,REEP4,HOOK3,TTI2,RNF170,RAB11FIP1,POMK,TM2D2,DOCK5,MAK16,FUT10,CHMP7,TUBBP1,LONRF1,PLPP5,FAM86B1,SMIM19,RPL10AP3,NKX2-6,GPAT4,VPS37A,UNC5D,SGCZ,HGSNAT,PPM1AP1,GOT1L1,LETM2,C8orf48,LGI3,PEBP4,FBXO16,CDCA2,NKX6-3,ESCO2,HTRA4,KCNU1,SDAD1P1,R3HCC1,IDO2,ADAM32,GULOP,GNRH1,GFRA2,IKBKB,NRG1,GSR,IDO1,GTF2E2,ADAM2,DEFB130A,DEFB109A,ADAM5,LINC02209,POTEA,SCARA5,MICU3,RNF5P1,PSME2P5,LINC02153,OR7E8P,MRPL49P2,USP17L2,AFG3L2P1,ZNF705CP,NUGGC,C8orf86,HSPA8P11,KRT18P37,FAM90A25P,USP17L7,RPL5P22,MIR320A,OR6R2P,LINC00589,RPS29P2,C8orf58,DEFB108D,MBOAT4,KCTD9P6,MIR383,DEFB109D,MIR486-1,DEFB108E,VENTXP5,SMARCE1P4,RPS15AP24,CCT3P1,SINHCAFP3,RPL17P33,ADAM24P,RPL32P19,TMEM97P2,FAM86B2,SNORD13,ZNF705D,LSM12P1,BTF3P3,FAM90A2P,RBPMS-AS1,RPL3P10,LPL,NEFL,MSR1,LOXL2,NKX3-1,NEFM,EIF4EP5,FAM66A,VN1R46P,FAM66D,RPL35P6,RPL30P9,RPL5P23,RPS20P22,RPL23P10,RPL23AP55,RPS3AP34,DEFB131D,DNAJB6P2,RPS3AP35,MIR548H4,ALG1L12P,MIR3926-1,MIR3148,MIR4287,MIR3622B,MIR3622A,MIR4288,COX6B1P4,MIR548V,MIR3926-2,SMIM18,LINC01605,MIR4469,MTND1P6,RNA5SP258,RNA5SP257,RNA5SP260,MIR548AO,RNA5SP259,RPL10P18,RNA5SP262,RNA5SP264,RNA5SP256,RNA5SP261,NRG1-IT1,MIR5692A2,RNA5SP255,MTND4P7,MTND2P32,RANP9,LZTS1-AS1,SNX18P27,RNU5A-3P,HMGB1P23,NRG1-IT3,LINC00681,RPL12P48,PCM1,PDGFRL,POLB,PPP2R2A,PPP3CC,PPP2CB,PLAT,PNOC,LINC02099,EXTL3-AS1,MIR6841,MIR6842,MIR486-2,MIR6843,MIR6876,LINC01288,LINC02866,RNA5SP263,RNU7-153P,STAR,SLC18A1,SLC7A2,SFRP1,SFTPC,VDAC3,STC1,SLC20A2,TACC1,BUD31P1,RNU6-1218P,RNU6-178P,RN7SL806P,RNU6-528P,RNU6-104P,RNU6-397P,RNU6-356P,RNU6-988P,RNU6-895P,RN7SL621P,ENPP7P12,RN7SL303P,RN7SL457P,RNU6-323P,RN7SL149P,ALG1L11P,SUMO2P16,RNU4-71P,RNU6-336P,RN7SL709P,CYP4F44P,RN7SL474P,RNU6-892P,RNU6-533P,HMBOX1-IT1,RNU6-1086P,MTND6P19,RNU6-607P,RNU1-124P,RNU6-663P,RNU1-148P,RNU6-1276P,RNA5SP254,MTND4LP26,RNU6-842P,MTCYBP19,MTND5P41,ENPP7P6,SNORD38D,SNORD65B,INTS9-AS1,TNFRSF10A-AS1,PPIAP84,SIRLNT,ADAM9,TNFRSF10A,TNFRSF10B,TUSC3,UBXN8,TNFRSF10C,CHRNA6,ADAM7,OR7E15P,TNFRSF10D,ADAM18,FZD3,FGF17,WRN,KAT6A,HIKESHIP3,MTMR7,ASH2L,ENTPD4,PHYHIP,DOK2,SORBS3,BAG4,PNMA2,OR7E10P,PLPBP,NPM2,AP3M2,RBPMS,LZTS1,ERLIN2,ADAM28,DCTN6,DLC1,KIF13B,DDHD2,ADGRA2,XPO7,RHOBTB2,TRIM35,PSD3,SLC39A14,LEPROTL1
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_7
Unknown
ASAH1,ADRB3,CHRNA2,CLU,CHRNB3,NATP,NAT1,ADRA1A,BNIP3L,ANK1,ATP6V1B2,BMP1,POLR3D,NAT2,EXTL3,DPYSL2,PTK2B,EIF4EBP1,FGFR1,FGL1,EGR3,ADAM3A,DMTN,EPHX2,FNTA,DUSP4,LSM1,DKK4,FGF20,ADAMDEC1,SCARA3,PURG,CNOT7,SARAF,GOLGA7,SLC25A37,MAP2K1P1,ZDHHC2,ELP3,INTS10,CCDC25,THAP1,KCTD9,NSD3,PIWIL2,BRF2,ZNF395,INTS9,CCAR2,TRMT9B,TEX15,HR,MTUS1,PBK,TPT1P8,TCIM,BIN3,PLEKHA2,CSGALNACT1,DUSP26,RNF122,PDLIM2,NUDT18,HMBOX1,EBF2,ZMAT4,SH2D4A,ZNF703,GINS4,STMN4,REEP4,HOOK3,TTI2,RNF170,RAB11FIP1,POMK,TM2D2,DOCK5,MAK16,FUT10,CHMP7,TUBBP1,LONRF1,PLPP5,FAM86B1,SMIM19,RPL10AP3,NKX2-6,GPAT4,VPS37A,UNC5D,SGCZ,HGSNAT,PPM1AP1,GOT1L1,LETM2,C8orf48,LGI3,PEBP4,FBXO16,CDCA2,NKX6-3,ESCO2,HTRA4,KCNU1,SDAD1P1,R3HCC1,IDO2,ADAM32,GULOP,GNRH1,GFRA2,IKBKB,NRG1,GSR,IDO1,GTF2E2,ADAM2,DEFB130A,DEFB109A,ADAM5,LINC02209,POTEA,SCARA5,MICU3,RNF5P1,PSME2P5,LINC02153,OR7E8P,MRPL49P2,USP17L2,AFG3L2P1,ZNF705CP,NUGGC,C8orf86,HSPA8P11,KRT18P37,FAM90A25P,USP17L7,RPL5P22,MIR320A,OR6R2P,LINC00589,RPS29P2,C8orf58,DEFB108D,MBOAT4,KCTD9P6,MIR383,DEFB109D,MIR486-1,DEFB108E,VENTXP5,SMARCE1P4,RPS15AP24,CCT3P1,SINHCAFP3,RPL17P33,ADAM24P,RPL32P19,TMEM97P2,FAM86B2,SNORD13,ZNF705D,LSM12P1,BTF3P3,FAM90A2P,RBPMS-AS1,RPL3P10,LPL,NEFL,MSR1,LOXL2,NKX3-1,NEFM,EIF4EP5,FAM66A,VN1R46P,FAM66D,RPL35P6,RPL30P9,RPL5P23,RPS20P22,RPL23P10,RPL23AP55,RPS3AP34,DEFB131D,DNAJB6P2,RPS3AP35,MIR548H4,ALG1L12P,MIR3926-1,MIR3148,MIR4287,MIR3622B,MIR3622A,MIR4288,COX6B1P4,MIR548V,MIR3926-2,SMIM18,LINC01605,MIR4469,MTND1P6,RNA5SP258,RNA5SP257,RNA5SP260,MIR548AO,RNA5SP259,RPL10P18,RNA5SP262,RNA5SP264,RNA5SP256,RNA5SP261,NRG1-IT1,MIR5692A2,RNA5SP255,MTND4P7,MTND2P32,RANP9,LZTS1-AS1,SNX18P27,RNU5A-3P,HMGB1P23,NRG1-IT3,LINC00681,RPL12P48,PCM1,PDGFRL,POLB,PPP2R2A,PPP3CC,PPP2CB,PLAT,PNOC,LINC02099,EXTL3-AS1,MIR6841,MIR6842,MIR486-2,MIR6843,MIR6876,LINC01288,LINC02866,RNA5SP263,RNU7-153P,STAR,SLC18A1,SLC7A2,SFRP1,SFTPC,VDAC3,STC1,SLC20A2,TACC1,BUD31P1,RNU6-1218P,RNU6-178P,RN7SL806P,RNU6-528P,RNU6-104P,RNU6-397P,RNU6-356P,RNU6-988P,RNU6-895P,RN7SL621P,ENPP7P12,RN7SL303P,RN7SL457P,RNA5SP253,RNU6-323P,RN7SL149P,ALG1L11P,SUMO2P16,RNU4-71P,RNU6-336P,RN7SL709P,CYP4F44P,RN7SL474P,RNU6-892P,RNU6-533P,HMBOX1-IT1,RNU6-1086P,MTND6P19,RNU6-607P,RNU1-124P,RNU6-663P,RNU1-148P,RNU6-1276P,RNA5SP254,MTND4LP26,RNU6-842P,MTCYBP19,MTND5P41,ENPP7P6,SNORD38D,SNORD65B,INTS9-AS1,TNFRSF10A-AS1,PPIAP84,SIRLNT,ADAM9,TNFRSF10A,TNFRSF10B,TUSC3,UBXN8,TNFRSF10C,CHRNA6,ADAM7,OR7E15P,TNFRSF10D,ADAM18,FZD3,FGF17,WRN,KAT6A,HIKESHIP3,MTMR7,ASH2L,ENTPD4,PHYHIP,DOK2,SORBS3,BAG4,PNMA2,OR7E10P,PLPBP,NPM2,AP3M2,RBPMS,LZTS1,ERLIN2,ADAM28,DCTN6,DLC1,KIF13B,DDHD2,ADGRA2,XPO7,RHOBTB2,TRIM35,PSD3,SLC39A14,LEPROTL1
sajan_13_ACC/CBLH/PMG_discovery_cases-case1006-0
qPCR
De novo
Unknown
Unknown
OR7E15P,OR7E10P,MIR5692A2,MIR3926-1,MIR3926-2,RNU6-842P,MTND4P7,RNA5SP255,C8orf48,EIF4EP5,RNU7-153P,RNU6-397P,MIR383,PPM1AP1,MRPL49P2,RN7SL474P,FGF20,ADAM24P,MIR548V,RNA5SP256,MTND4LP26,NATP,RPL35P6,RPL30P9,RNU6-892P,RNA5SP257,TMEM97P2,OR6R2P,DOK2,FGF17,NUDT18,REEP4,SFTPC,PHYHIP,MIR320A,RNU6-336P,C8orf58,RN7SL303P,TNFRSF10C,TNFRSF10A-AS1,RPL23AP55,RNU4-71P,SINHCAFP3,NKX3-1,NKX2-6,STC1,RNU1-148P,NEFM,MIR6841,MIR6876,GNRH1,RNA5SP258,COX6B1P4,MIR548H4,MIR6842,MIR6843,RNU6-1086P,MIR3622B,MIR3622A,RNU6-1276P,MIR4287,RPL5P22,RNU6-178P,MIR4288,RNA5SP259,EXTL3-AS1,INTS9-AS1,RNA5SP260,HMGB1P23,RPL17P33,MIR3148,MAP2K1P1,RNU6-1218P,RPS15AP24,MBOAT4,HSPA8P11,PPIAP84,TUBBP1,RBPMS-AS1,SMIM18,RNU5A-3P,SUMO2P16,KCTD9P6,RNA5SP261,RNA5SP262,RNA5SP263,NRG1-IT3,RNU6-663P,MTND1P6,MTND2P32,RANP9,RNU6-528P,SNORD13,RPL10P18,RN7SL621P,DUSP26,BUD31P1,RN7SL457P,VENTXP5,RPL10AP3,LSM12P1,MTCYBP19,MTND6P19,MTND5P41,RNU6-533P,RPL23P10,RNA5SP264,TPT1P8,SMARCE1P4,RNU6-607P,RN7SL709P,GOT1L1,ADRB3,RPL12P48,RNU6-988P,STAR,RNU6-323P,PLPP5,RPS20P22,TCIM,RNU6-356P,MIR548AO,RPS29P2,RNU6-895P,SNORD65B,KRT18P37,MIR486-1,MIR486-2,RN7SL149P,RPL5P23,DKK4,THAP1,RN7SL806P,MIR4469,VN1R46P,AFG3L2P1,RNU6-104P,SNX18P27,CYP4F44P,LONRF1,LINC00681,CNOT7,PDGFRL,FGL1,ASAH1,NAT2,SH2D4A,INTS10,SLC18A1,ATP6V1B2,LZTS1,LZTS1-AS1,LINC02153,XPO7,NPM2,DMTN,FAM160B2,HR,BMP1,POLR3D,PPP3CC,SORBS3,PDLIM2,CCAR2,BIN3,EGR3,RHOBTB2,TNFRSF10D,CHMP7,R3HCC1,ENTPD4,SLC25A37,ADAM28,ADAMDEC1,NEFL,CDCA2,SDAD1P1,PNMA2,ADRA1A,STMN4,TRIM35,CHRNA2,GULOP,CLU,CCDC25,PBK,PNOC,ZNF395,HMBOX1-IT1,DUSP4,LINC00589,LINC02209,SARAF,DCTN6,GTF2E2,GSR,UBXN8,TEX15,PURG,TTI2,MAK16,LINC01288,ZNF703,PLPBP,ADGRA2,BRF2,EIF4EBP1,LSM1,BAG4,RNF5P1,HTRA4,TM2D2,RPL3P10,ADAM2,IDO1,SIRLNT,GOLGA7,GINS4,GPAT4,NKX6-3,AP3M2,IKBKB,POLB,VDAC3,SMIM19,CHRNA6,FNTA,RNU1-124P,HGSNAT,POTEA,TRMT9B,DLC1,MSR1,MICU3,ZDHHC2,VPS37A,MTMR7,SLC7A2,MTUS1,PCM1,NAT1,CSGALNACT1,GFRA2,LGI3,PIWIL2,SLC39A14,PEBP4,TNFRSF10A,LOXL2,ADAM7,DOCK5,KCTD9,EBF2,PPP2R2A,BNIP3L,DPYSL2,PTK2B,EPHX2,SCARA3,ESCO2,SCARA5,NUGGC,ELP3,FBXO16,FZD3,EXTL3,INTS9,HMBOX1,KIF13B,LINC02099,LEPROTL1,PPP2CB,WRN,NRG1-IT1,FUT10,KCNU1,LINC01605,RAB11FIP1,ASH2L,DDHD2,NSD3,LETM2,FGFR1,C8orf86,PLEKHA2,ADAM9,ADAM32,ADAM5,ADAM3A,ADAM18,IDO2,SFRP1,ANK1,PLAT,SLC20A2,CHRNB3,RNF170,POMK,SGCZ,TUSC3,PSD3,LPL,TNFRSF10B,RBPMS,NRG1,UNC5D,ERLIN2,TACC1,ZMAT4,HOOK3,RNF122,KAT6A
sajan_13_ACC/CBLH/PMG_discovery_cases-case1020-0
qPCR
De novo
Unknown
Unknown
OR7E15P,OR7E10P,MIR5692A2,MIR3926-1,MIR3926-2,RNU6-842P,MTND4P7,RNA5SP255,C8orf48,EIF4EP5,RNU7-153P,RNU6-397P,MIR383,PPM1AP1,MRPL49P2,RN7SL474P,FGF20,ADAM24P,MIR548V,RNA5SP256,MTND4LP26,NATP,RPL35P6,RPL30P9,RNU6-892P,RNA5SP257,TMEM97P2,OR6R2P,DOK2,FGF17,NUDT18,REEP4,SFTPC,PHYHIP,MIR320A,RNU6-336P,C8orf58,RN7SL303P,TNFRSF10C,TNFRSF10A-AS1,RPL23AP55,RNU4-71P,SINHCAFP3,NKX3-1,NKX2-6,STC1,RNU1-148P,NEFM,MIR6841,MIR6876,GNRH1,RNA5SP258,COX6B1P4,MIR548H4,MIR6842,MIR6843,RNU6-1086P,MIR3622B,MIR3622A,RNU6-1276P,MIR4287,RPL5P22,RNU6-178P,MIR4288,RNA5SP259,EXTL3-AS1,INTS9-AS1,RNA5SP260,HMGB1P23,RPL17P33,MIR3148,MAP2K1P1,RNU6-1218P,RPS15AP24,MBOAT4,HSPA8P11,PPIAP84,TUBBP1,RBPMS-AS1,SMIM18,RNU5A-3P,SUMO2P16,KCTD9P6,RNA5SP261,RNA5SP262,RNA5SP263,NRG1-IT3,RNU6-663P,MTND1P6,MTND2P32,RANP9,RNU6-528P,SNORD13,RPL10P18,RN7SL621P,DUSP26,BUD31P1,RN7SL457P,VENTXP5,RPL10AP3,LSM12P1,MTCYBP19,MTND6P19,MTND5P41,RNU6-533P,RPL23P10,RNA5SP264,TPT1P8,SMARCE1P4,RNU6-607P,RN7SL709P,GOT1L1,ADRB3,RPL12P48,RNU6-988P,STAR,RNU6-323P,PLPP5,RPS20P22,TCIM,RNU6-356P,MIR548AO,RPS29P2,RNU6-895P,SNORD65B,KRT18P37,MIR486-1,MIR486-2,RN7SL149P,RPL5P23,DKK4,THAP1,RN7SL806P,MIR4469,VN1R46P,AFG3L2P1,RNU6-104P,SNX18P27,CYP4F44P,LONRF1,LINC00681,CNOT7,PDGFRL,FGL1,ASAH1,NAT2,SH2D4A,INTS10,SLC18A1,ATP6V1B2,LZTS1,LZTS1-AS1,LINC02153,XPO7,NPM2,DMTN,FAM160B2,HR,BMP1,POLR3D,PPP3CC,SORBS3,PDLIM2,CCAR2,BIN3,EGR3,RHOBTB2,TNFRSF10D,CHMP7,R3HCC1,ENTPD4,SLC25A37,ADAM28,ADAMDEC1,NEFL,CDCA2,SDAD1P1,PNMA2,ADRA1A,STMN4,TRIM35,CHRNA2,GULOP,CLU,CCDC25,PBK,PNOC,ZNF395,HMBOX1-IT1,DUSP4,LINC00589,LINC02209,SARAF,DCTN6,GTF2E2,GSR,UBXN8,TEX15,PURG,TTI2,MAK16,LINC01288,ZNF703,PLPBP,ADGRA2,BRF2,EIF4EBP1,LSM1,BAG4,RNF5P1,HTRA4,TM2D2,RPL3P10,ADAM2,IDO1,SIRLNT,GOLGA7,GINS4,GPAT4,NKX6-3,AP3M2,IKBKB,POLB,VDAC3,SMIM19,CHRNA6,FNTA,RNU1-124P,HGSNAT,POTEA,TRMT9B,DLC1,MSR1,MICU3,ZDHHC2,VPS37A,MTMR7,SLC7A2,MTUS1,PCM1,NAT1,CSGALNACT1,GFRA2,LGI3,PIWIL2,SLC39A14,PEBP4,TNFRSF10A,LOXL2,ADAM7,DOCK5,KCTD9,EBF2,PPP2R2A,BNIP3L,DPYSL2,PTK2B,EPHX2,SCARA3,ESCO2,SCARA5,NUGGC,ELP3,FBXO16,FZD3,EXTL3,INTS9,HMBOX1,KIF13B,LINC02099,LEPROTL1,PPP2CB,WRN,NRG1-IT1,FUT10,KCNU1,LINC01605,RAB11FIP1,ASH2L,DDHD2,NSD3,LETM2,FGFR1,C8orf86,PLEKHA2,ADAM9,ADAM32,ADAM5,ADAM3A,ADAM18,IDO2,SFRP1,ANK1,PLAT,SLC20A2,CHRNB3,RNF170,POMK,SGCZ,TUSC3,PSD3,LPL,TNFRSF10B,RBPMS,NRG1,UNC5D,ERLIN2,TACC1,ZMAT4,HOOK3,RNF122,KAT6A
sajan_13_ACC/CBLH/PMG_discovery_cases-case1228-0
qPCR
De novo
Unknown
Unknown
OR7E15P,OR7E10P,MIR5692A2,MIR3926-1,MIR3926-2,RNU6-842P,MTND4P7,RNA5SP255,C8orf48,EIF4EP5,RNU7-153P,RNU6-397P,MIR383,PPM1AP1,MRPL49P2,RN7SL474P,FGF20,ADAM24P,MIR548V,RNA5SP256,MTND4LP26,NATP,RPL35P6,RPL30P9,RNU6-892P,RNA5SP257,TMEM97P2,OR6R2P,DOK2,FGF17,NUDT18,REEP4,SFTPC,PHYHIP,MIR320A,RNU6-336P,C8orf58,RN7SL303P,TNFRSF10C,TNFRSF10A-AS1,RPL23AP55,RNU4-71P,SINHCAFP3,NKX3-1,NKX2-6,STC1,RNU1-148P,NEFM,MIR6841,MIR6876,GNRH1,RNA5SP258,COX6B1P4,MIR548H4,MIR6842,MIR6843,RNU6-1086P,MIR3622B,MIR3622A,RNU6-1276P,MIR4287,RPL5P22,RNU6-178P,MIR4288,RNA5SP259,EXTL3-AS1,INTS9-AS1,RNA5SP260,HMGB1P23,RPL17P33,MIR3148,MAP2K1P1,RNU6-1218P,RPS15AP24,MBOAT4,HSPA8P11,PPIAP84,TUBBP1,RBPMS-AS1,SMIM18,RNU5A-3P,SUMO2P16,KCTD9P6,RNA5SP261,RNA5SP262,RNA5SP263,NRG1-IT3,RNU6-663P,MTND1P6,MTND2P32,RANP9,RNU6-528P,SNORD13,RPL10P18,RN7SL621P,DUSP26,BUD31P1,RN7SL457P,VENTXP5,RPL10AP3,LSM12P1,MTCYBP19,MTND6P19,MTND5P41,RNU6-533P,RPL23P10,RNA5SP264,TPT1P8,SMARCE1P4,RNU6-607P,RN7SL709P,GOT1L1,ADRB3,RPL12P48,RNU6-988P,STAR,RNU6-323P,PLPP5,RPS20P22,TCIM,RNU6-356P,MIR548AO,RPS29P2,RNU6-895P,SNORD65B,KRT18P37,MIR486-1,MIR486-2,RN7SL149P,RPL5P23,DKK4,THAP1,RN7SL806P,MIR4469,VN1R46P,AFG3L2P1,RNU6-104P,SNX18P27,CYP4F44P,LONRF1,LINC00681,CNOT7,PDGFRL,FGL1,ASAH1,NAT2,SH2D4A,INTS10,SLC18A1,ATP6V1B2,LZTS1,LZTS1-AS1,LINC02153,XPO7,NPM2,DMTN,FAM160B2,HR,BMP1,POLR3D,PPP3CC,SORBS3,PDLIM2,CCAR2,BIN3,EGR3,RHOBTB2,TNFRSF10D,CHMP7,R3HCC1,ENTPD4,SLC25A37,ADAM28,ADAMDEC1,NEFL,CDCA2,SDAD1P1,PNMA2,ADRA1A,STMN4,TRIM35,CHRNA2,GULOP,CLU,CCDC25,PBK,PNOC,ZNF395,HMBOX1-IT1,DUSP4,LINC00589,LINC02209,SARAF,DCTN6,GTF2E2,GSR,UBXN8,TEX15,PURG,TTI2,MAK16,LINC01288,ZNF703,PLPBP,ADGRA2,BRF2,EIF4EBP1,LSM1,BAG4,RNF5P1,HTRA4,TM2D2,RPL3P10,ADAM2,IDO1,SIRLNT,GOLGA7,GINS4,GPAT4,NKX6-3,AP3M2,IKBKB,POLB,VDAC3,SMIM19,CHRNA6,FNTA,RNU1-124P,HGSNAT,POTEA,TRMT9B,DLC1,MSR1,MICU3,ZDHHC2,VPS37A,MTMR7,SLC7A2,MTUS1,PCM1,NAT1,CSGALNACT1,GFRA2,LGI3,PIWIL2,SLC39A14,PEBP4,TNFRSF10A,LOXL2,ADAM7,DOCK5,KCTD9,EBF2,PPP2R2A,BNIP3L,DPYSL2,PTK2B,EPHX2,SCARA3,ESCO2,SCARA5,NUGGC,ELP3,FBXO16,FZD3,EXTL3,INTS9,HMBOX1,KIF13B,LINC02099,LEPROTL1,PPP2CB,WRN,NRG1-IT1,FUT10,KCNU1,LINC01605,RAB11FIP1,ASH2L,DDHD2,NSD3,LETM2,FGFR1,C8orf86,PLEKHA2,ADAM9,ADAM32,ADAM5,ADAM3A,ADAM18,IDO2,SFRP1,ANK1,PLAT,SLC20A2,CHRNB3,RNF170,POMK,SGCZ,TUSC3,PSD3,LPL,TNFRSF10B,RBPMS,NRG1,UNC5D,ERLIN2,TACC1,ZMAT4,HOOK3,RNF122,KAT6A
verberne_22_ASD/DD/ID_discovery_cases-case129
De novo
CHRNA2,NATP,ATP6V1B2,NAT1,ADRA1A,CHRNB3,ADRB3,POLR3D,ANK1,NAT2,BMP1,ASAH1,CLU,BNIP3L,EPHX2,FGL1,DPYSL2,EXTL3,PTK2B,DMTN,FGFR1,FNTA,EIF4EBP1,EGR3,DUSP4,ADAM3A,DKK4,ADAMDEC1,FGF20,LSM1,CNOT7,SLC25A37,MAP2K1P1,SCARA3,PURG,ZDHHC2,SARAF,GOLGA7,BRF2,ELP3,KCTD9,PIWIL2,NSD3,INTS10,THAP1,CCDC25,PLEKHA2,MTUS1,PBK,HR,TCIM,TPT1P8,BIN3,CSGALNACT1,INTS9,ZNF395,TRMT9B,CCAR2,TEX15,DUSP26,PDLIM2,RNF122,EBF2,NUDT18,FHIP2B,HMBOX1,ZMAT4,SH2D4A,POMK,RNF170,RAB11FIP1,STMN4,TTI2,GINS4,HOOK3,ZNF703,REEP4,DOCK5,TM2D2,LONRF1,MAK16,PLPP5,FUT10,TUBBP1,CHMP7,SMIM19,VPS37A,UNC5D,SGCZ,GOT1L1,LETM2,HGSNAT,GPAT4,RPL10AP3,NKX2-6,PPM1AP1,IDO2,C8orf48,CDCA2,LGI3,SDAD1P1,R3HCC1,ADAM32,HTRA4,KCNU1,PEBP4,ESCO2,NKX6-3,FBXO16,ADAM2,IKBKB,GTF2E2,GNRH1,GSR,NRG1,GULOP,IDO1,GFRA2,ADAM5,MICU3,SCARA5,LINC02153,PSME2P5,RNF5P1,POTEA,LINC02209,OR7E8P,AFG3L2P1,MRPL49P2,C8orf86,RPL5P22,KRT18P37,HSPA8P11,TNFRSF10A-DT,NUGGC,OR6R2P,MIR320A,C8orf58,KCTD9P6,MBOAT4,SMARCE1P4,MIR383,MIR486-1,RPS29P2,LINC00589,VENTXP5,CCT3P1,RPL17P33,RPL32P19,ADAM24P,RPS15AP24,SINHCAFP3,LSM12P1,TMEM97P2,SNORD13,BTF3P3,RPL3P10,RBPMS-AS1,NEFM,NKX3-1,LOXL2,NEFL,MSR1,LPL,VN1R46P,EIF4EP5,RPL23P10,RPL30P9,RPL5P23,RPL35P6,RPS20P22,RPL23AP55,DNAJB6P2,MIR548H4,MIR3622A,MIR4287,MIR3926-1,MIR3148,MIR4288,MIR3926-2,MIR548V,COX6B1P4,MIR3622B,SMIM18,MIR4469,PIWIL2-DT,LINC01605,MTND4P7,RNA5SP264,RNA5SP259,MIR548AO,RPL10P18,RNA5SP261,RNA5SP255,RNA5SP260,MIR5692A2,MTND2P32,RNA5SP256,RNA5SP258,RNA5SP257,NRG1-IT1,RNA5SP262,MTND1P6,LZTS1-AS1,RANP9,NRG1-IT3,SNX18P27,RNU5A-3P,HMGB1P23,LINC00681,RPL12P48,PNOC,POLB,PCM1,PDGFRL,PPP2CB,PPP3CC,PPP2R2A,PLAT,IKBKB-DT,LINC02099,EXTL3-AS1,MIR6841,MIR6842,MTUS1-DT,MIR6876,MIR6843,MIR486-2,GPAT4-AS1,LINC01288,RNU7-153P,RNA5SP263,LINC02866,STC1,SFTPC,TACC1,SLC7A2,SLC18A1,SFRP1,STAR,VDAC3,SLC20A2,RN7SL806P,RNU6-895P,RNU6-356P,BUD31P1,RNU6-104P,RN7SL621P,RNU6-528P,RNU6-1218P,RNU6-988P,RNU6-178P,RNU6-397P,RNU6-336P,RN7SL303P,RN7SL457P,RN7SL709P,RNU6-323P,CYP4F44P,RN7SL474P,RNU6-663P,SUMO2P16,RNU4-71P,RN7SL149P,RNU6-607P,MTND5P41,RNU6-1086P,HMBOX1-IT1,RNU1-124P,MTND6P19,RNU6-533P,RNU6-842P,RNU1-148P,MTCYBP19,MTND4LP26,RNU6-892P,RNU6-1276P,INTS9-AS1,SNORD65B,SNORD38D,PPIAP84,TNFRSF10A-AS1,SIRLNT,TNFRSF10A,ADAM7,TNFRSF10D,FZD3,TNFRSF10B,ADAM9,TNFRSF10C,UBXN8,OR7E15P,KAT6A,ADAM18,CHRNA6,WRN,TUSC3,FGF17,ENTPD4-DT,DCTN6-DT,HIKESHIP3,HRURF,ASH2L,MTMR7,PHYHIP,SORBS3,DOK2,BAG4,ENTPD4,NPM2,AP3M2,LZTS1,DLC1,DCTN6,OR7E10P,PNMA2,ERLIN2,ADAM28,PLPBP,RBPMS,RHOBTB2,PSD3,ADGRA2,KIF13B,LEPROTL1,XPO7,TRIM35,SLC39A14,DDHD2
Controls
No Control Data Available
No Animal Model Data Available