8p23.1-p11.21CNV Type: Duplication
Largest CNV size: 29550523 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
Duplications within this region were found in two cases from a study of 15,749 individuals from the International Standards for Cytogenomic Arrays (ISCA) consortium with unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome (Kaminsky et al., 2011).
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
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
29550523
0
2
2
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
29957222
0
9
9
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
29499690
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
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
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
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000728
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
12609975
42085703
29475729
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001064
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
12728904
41928741
29199838
GRCh38
Duplication
Yes
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_10
12.5 yrs.
M
Epilepsy/seizures
Prenatal history: Single umbilical artery, Oligo-/Polyhydramnios or Renal issues. Neonatal history: Floppy infant, Feeding difficulty, Poor suck, Overly sleepy. Neurobehavioral profile: Sensory processing disorder/Sensory issues. Neurologic profile: Hypotonia, Hypertonia, Difficulty walking/Wobbly, clumsy gait. Brain imaging abnormality: abnormality of the corpus callosum (hypoplasia), Hydrocephalus/Ventriculomegaly, Cerebral/cerebellar atrophy, Other brain imaging abnormality. Seizures: Absence. EEG: Epileptiform changes. Sleep problems: Sleep difficulty. Visual abnormalities: Refractive error. Gastrointestinal abnormalities: Constipation, GERD. Musculoskeletal abnormalities: Other musculoskeletal abnormalities. Genitourinary abnormalities: Pelvicalyectasis. Growth and Endocrine abnormalities: failure to thrive/poor weight gain. Skin abnormalities: Cold hands and feet. Additional medical history: Conductive hearing loss (fluid), Eosinofilic esophagitis.
12691704
42258931
29567228
GRCh38
Duplication
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_11
5 yrs.
F
Epilepsy/seizures
Prenatal history: Pre-eclampsia. Neonatal history: Floppy infant, Feeding difficulty, Irritable. Neurologic profile: Hypotonia, Hypertonia, Difficulty walking/Wobbly, clumsy gait. Brain imaging abnormality: abnormality of the corpus callosum (agenesis). Seizures: Absence, Complex partial. EEG: Slowing, Epileptiform changes. Cardiac issues: Other cardiac issues. Visual abnormalities: Refractive error, Other visual abnormalities. Gastrointestinal abnormalities: Constipation, GERD, Feeding difficulty, TEF. Musculoskeletal abnormalities: Tethered cord/spina bifida, Rib anomalies. Frequent infections: Otitis media, Lower respiratory infections. Dental: Caries, Delayed eruption.
12077513
40894091
28816579
GRCh38
Duplication
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_12
2.8 yrs.
F
NDD
Prenatal history: SGA, Cardiac finding, Intracranial cyst. Neonatal history: Floppy infant, Feeding difficulty, Poor suck, Overly sleepy, Irritable. Neurologic profile: Hypotonia. Brain imaging abnormality: Intracranial cyst. Cardiac issues: VSD, PDA. Visual abnormalities: Other visual abnormalities. Gastrointestinal abnormalities: Constipation, GERD.
12048697
40863842
28815146
GRCh38
Duplication
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_13
3.3 yrs.
M
NDD
Neonatal history: Feeding difficulty, Overly sleepy. Neurobehavioral profile: Stereotypic behaviors/Tics/Hand flapping. Neurologic profile: Hypotonia, Difficulty walking/Wobbly, clumsy gait. Musculoskeletal abnormalities: Pectus excavatum/carinatum. Dental abnormalities: Caries.
12633488
40715671
28082184
GRCh38
Duplication
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_14
2.4 yrs.
F
Epilepsy/seizures
Neonatal history: Floppy infant, Overly sleepy. Neurobehavioral profile: Stereotypic behaviors/Tics/Hand flapping, Aggessivity/Tantrums/Impulsivity. Neurologic profile: Hypotonia. Brain imaging abnormality: abnormality of the corpus callosum (agenesis). Seizures: Absence, Febrile, Tonic-clonic. Sleep problems: Sleep difficulty, Sleep apnea. Cardiac issues: VSD. Gastrointestinal abnormalities: Constipation, GERD. Musculoskeletal abnormalities: Vertebral abnormalities, Kyphosis. Growth and Endocrine abnormalities: failure to thrive/poor weight gain.
12048697
40681379
28632683
GRCh38
Duplication
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_15
6.1 yrs.
F
Epilepsy/seizures
Prenatal history: SGA. Neonatal history: Floppy infant, Feeding difficulty, Poor suck, Respiratory distress. Neurobehavioral profile: Aggessivity/Tantrums/Impulsivity. Neurologic profile: Hypotonia, Hypertonia. Seizures: Absence, Febrile. EEG: Epileptiform changes. Cardiac issues: VSD, PFO, PDA. Gastrointestinal abnormalities: Constipation, GERD. Musculoskeletal abnormalities: Vertebral abnormalities, Equinovarus/equinovalgus, Rib anomalies. Growth and Endocrine abnormalities: failure to thrive/poor weight gain. Frequent infections: Otitis media, Upper respiratory infections, Urinary tract infections. Dental abnormalities: Widely-spaced teeth, Overbite.
12088345
40523220
28434876
GRCh38
Duplication
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_16
5.8 yrs.
F
NDD
Prenatal history: Single umbilical artery, SGA. Neonatal history: Overly sleepy, Prematurity. Neurologic profile: Hypotonia, Hypertonia, Microcephaly. Brain imaging abnormality: abnormality of the corpus callosum (hypoplasia). EEG: Slowing. Sleep problems: Night terrors. Cardiac issues: BAV. Visual abnormalities: Amblyopia. Gastrointestinal abnormalities: Constipation, GERD. Musculoskeletal abnormalities: Scoliosis, Hypermobile joints. Growth and Endocrine abnormalities: Short stature, failure to thrive/poor weight gain. Skin abnormalities: Keratosis pilaris. Dental abnormalities: Overbite.
12077513
40480151
28402639
GRCh38
Duplication
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_8
5.3 yrs.
F
Epilepsy/seizures
Neonatal history: Floppy infant, Overly sleepy. Neurologic profile: Hypotonia, Hypertonia. Brain imaging abnormality: abnormality of the corpus callosum (agenesis), Other brain imaging abnormality. Seizures: Absence. Cardiac issues: PFO. Visual abnormalities: Refractive error, Optic nerve (atrophy/enlarged/cupped). Gastrointestinal abnormalities: Feeding difficulty, Other gastrointestinal abnormalities. Musculoskeletal abnormalities: Scoliosis, Coxa valga/Pelvis/Femur head abnormality. Genitourinary abnormalities: Structural kidney abnormalities. Growth and Endocrine abnormalities: failure to thrive/poor weight gain. Frequent infections: Otitis media. Additional medical history: sensorineural hearing loss (SNHL).
12697233
42654454
29957222
GRCh38
Duplication
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_9
3 yrs.
F
Epilepsy/seizures
Neonatal history: Floppy infant, Poor suck, Overly sleepy, Respiratory distress, Torticollis. Neurologic profile: Hypotonia, Hypertonia. Brain imaging abnormality: abnormality of the corpus callosum (hypoplasia). Seizures: Complex partial. EEG: Slowing, Other abnormal activity. Cardiac issues: ASD. Visual abnormalities: Cortical visual impairment. Gastrointestinal abnormalities: Constipation, GERD, absent gallbladder. Growth and Endocrine abnormalities: failure to thrive/poor weight gain. Frequent infections: Otitis media.
12670972
42404422
29733451
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1356-0
N/A
M
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: yes. Neurological features: spastic diplegic cerebral palsy, hypotonia, hyporeflexia, diminished strength, unsteady gait, fine motor delay, gross motor delay, visual motor delay, deficits in expressive and receptive language skills, deficits in motor oral skills, dysarthria. Ocular and auditory problems: strabismus. Gastrointestinal problems: problems with swallowing, reflux, constipation. Brain imaging: complete ACC, normal pituitary gland, large ventricule size, present Probst bundles, decreased white matter volume, and normal myelination observed on brain MRI.
Developmental delay: yes. Intellectual disability: yes.
12610667
42035561
29424895
GRCh38
Duplication
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000728
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,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,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,SGCZ,TUSC3,PSD3,LPL,TNFRSF10B,RBPMS,NRG1,UNC5D,ERLIN2,TACC1,ZMAT4,RNF122,KAT6A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001064
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,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,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,SGCZ,TUSC3,PSD3,LPL,TNFRSF10B,RBPMS,NRG1,UNC5D,ERLIN2,TACC1,ZMAT4,RNF122
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_10
Unknown
ASAH1,ADRB3,CHRNA2,CLU,NATP,NAT1,ADRA1A,BNIP3L,ANK1,ATP6V1B2,BMP1,POLR3D,NAT2,EXTL3,DPYSL2,PTK2B,EIF4EBP1,FGFR1,FGL1,EGR3,ADAM3A,DMTN,EPHX2,DUSP4,LSM1,FGF20,ADAMDEC1,SCARA3,PURG,CNOT7,SARAF,GOLGA7,SLC25A37,MAP2K1P1,ZDHHC2,ELP3,INTS10,CCDC25,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,TTI2,RAB11FIP1,TM2D2,DOCK5,MAK16,FUT10,CHMP7,TUBBP1,LONRF1,PLPP5,RPL10AP3,NKX2-6,GPAT4,VPS37A,UNC5D,SGCZ,PPM1AP1,GOT1L1,LETM2,C8orf48,LGI3,PEBP4,FBXO16,CDCA2,NKX6-3,ESCO2,HTRA4,KCNU1,SDAD1P1,R3HCC1,IDO2,ADAM32,GULOP,GNRH1,GFRA2,NRG1,GSR,IDO1,GTF2E2,ADAM2,ADAM5,LINC02209,SCARA5,MICU3,RNF5P1,PSME2P5,LINC02153,MRPL49P2,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,RPL35P6,RPL30P9,RPS20P22,RPL23P10,RPL23AP55,DNAJB6P2,MIR548H4,MIR3926-1,MIR3148,MIR4287,MIR3622B,MIR3622A,MIR4288,COX6B1P4,MIR548V,MIR3926-2,SMIM18,LINC01605,MTND1P6,RNA5SP258,RNA5SP257,RNA5SP260,MIR548AO,RNA5SP259,RPL10P18,RNA5SP262,RNA5SP264,RNA5SP256,RNA5SP261,NRG1-IT1,MIR5692A2,RNA5SP255,MTND4P7,MTND2P32,RANP9,LZTS1-AS1,RNU5A-3P,HMGB1P23,NRG1-IT3,LINC00681,RPL12P48,PCM1,PDGFRL,PPP2R2A,PPP3CC,PPP2CB,PLAT,PNOC,LINC02099,EXTL3-AS1,MIR6841,MIR6842,MIR486-2,MIR6843,MIR6876,LINC01288,LINC02866,RNA5SP263,RNU7-153P,STAR,SLC18A1,SLC7A2,SFRP1,SFTPC,STC1,TACC1,BUD31P1,RNU6-1218P,RNU6-178P,RNU6-528P,RNU6-397P,RNU6-356P,RNU6-988P,RNU6-895P,RN7SL621P,RN7SL303P,RN7SL457P,RNU6-323P,RN7SL149P,SUMO2P16,RNU4-71P,RNU6-336P,RN7SL709P,RN7SL474P,RNU6-892P,RNU6-533P,HMBOX1-IT1,RNU6-1086P,MTND6P19,RNU6-607P,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,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_11
Unknown
ASAH1,ADRB3,CHRNA2,CLU,NATP,NAT1,ADRA1A,BNIP3L,ATP6V1B2,BMP1,POLR3D,NAT2,EXTL3,DPYSL2,PTK2B,EIF4EBP1,FGFR1,FGL1,EGR3,ADAM3A,DMTN,EPHX2,DUSP4,LSM1,FGF20,ADAMDEC1,SCARA3,PURG,CNOT7,SARAF,SLC25A37,MAP2K1P1,ZDHHC2,ELP3,INTS10,CCDC25,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,STMN4,REEP4,TTI2,RAB11FIP1,TM2D2,DOCK5,MAK16,FUT10,CHMP7,TUBBP1,LONRF1,PLPP5,FAM86B1,RPL10AP3,NKX2-6,VPS37A,UNC5D,SGCZ,PPM1AP1,GOT1L1,LETM2,C8orf48,LGI3,PEBP4,FBXO16,CDCA2,ESCO2,HTRA4,KCNU1,SDAD1P1,R3HCC1,IDO2,ADAM32,GULOP,GNRH1,GFRA2,NRG1,GSR,IDO1,GTF2E2,ADAM2,DEFB130A,DEFB109A,ADAM5,LINC02209,SCARA5,MICU3,RNF5P1,PSME2P5,LINC02153,OR7E8P,MRPL49P2,USP17L2,ZNF705CP,NUGGC,C8orf86,HSPA8P11,FAM90A25P,USP17L7,RPL5P22,MIR320A,OR6R2P,LINC00589,C8orf58,DEFB108D,MBOAT4,KCTD9P6,MIR383,DEFB109D,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,FAM66D,RPL35P6,RPL30P9,RPS20P22,RPL23P10,RPL23AP55,RPS3AP34,DEFB131D,DNAJB6P2,RPS3AP35,MIR548H4,ALG1L12P,MIR3926-1,MIR3148,MIR4287,MIR3622B,MIR3622A,MIR4288,COX6B1P4,MIR548V,MIR3926-2,SMIM18,LINC01605,MTND1P6,RNA5SP258,RNA5SP257,RNA5SP260,RNA5SP259,RPL10P18,RNA5SP262,RNA5SP264,RNA5SP256,RNA5SP261,NRG1-IT1,MIR5692A2,RNA5SP255,MTND4P7,MTND2P32,RANP9,LZTS1-AS1,RNU5A-3P,HMGB1P23,NRG1-IT3,LINC00681,RPL12P48,PCM1,PDGFRL,PPP2R2A,PPP3CC,PPP2CB,PNOC,LINC02099,EXTL3-AS1,MIR6841,MIR6842,MIR6843,MIR6876,LINC01288,LINC02866,RNA5SP263,RNU7-153P,STAR,SLC18A1,SLC7A2,SFTPC,STC1,TACC1,BUD31P1,RNU6-1218P,RNU6-178P,RNU6-528P,RNU6-397P,RNU6-988P,RN7SL621P,ENPP7P12,RN7SL303P,RN7SL457P,RNA5SP253,RNU6-323P,ALG1L11P,SUMO2P16,RNU4-71P,RNU6-336P,RN7SL709P,RN7SL474P,RNU6-892P,RNU6-533P,HMBOX1-IT1,RNU6-1086P,MTND6P19,RNU6-607P,RNU6-663P,RNU1-148P,RNU6-1276P,RNA5SP254,MTND4LP26,RNU6-842P,MTCYBP19,MTND5P41,ENPP7P6,SNORD38D,INTS9-AS1,TNFRSF10A-AS1,PPIAP84,SIRLNT,ADAM9,TNFRSF10A,TNFRSF10B,TUSC3,UBXN8,TNFRSF10C,ADAM7,OR7E15P,TNFRSF10D,ADAM18,FZD3,FGF17,WRN,HIKESHIP3,MTMR7,ASH2L,ENTPD4,PHYHIP,DOK2,SORBS3,BAG4,PNMA2,OR7E10P,PLPBP,NPM2,RBPMS,LZTS1,ERLIN2,ADAM28,DCTN6,DLC1,KIF13B,DDHD2,ADGRA2,XPO7,RHOBTB2,TRIM35,PSD3,SLC39A14,LEPROTL1
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_12
Unknown
ASAH1,ADRB3,CHRNA2,CLU,NATP,NAT1,ADRA1A,BNIP3L,ATP6V1B2,BMP1,POLR3D,NAT2,EXTL3,DPYSL2,PTK2B,EIF4EBP1,FGFR1,FGL1,EGR3,ADAM3A,DMTN,EPHX2,DUSP4,LSM1,FGF20,ADAMDEC1,SCARA3,PURG,CNOT7,SARAF,SLC25A37,MAP2K1P1,ZDHHC2,ELP3,INTS10,CCDC25,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,STMN4,REEP4,TTI2,RAB11FIP1,TM2D2,DOCK5,MAK16,FUT10,CHMP7,TUBBP1,LONRF1,PLPP5,FAM86B1,RPL10AP3,NKX2-6,VPS37A,UNC5D,SGCZ,PPM1AP1,GOT1L1,LETM2,C8orf48,LGI3,PEBP4,FBXO16,CDCA2,ESCO2,HTRA4,KCNU1,SDAD1P1,R3HCC1,IDO2,ADAM32,GULOP,GNRH1,GFRA2,NRG1,GSR,IDO1,GTF2E2,ADAM2,DEFB130A,DEFB109A,ADAM5,LINC02209,SCARA5,MICU3,RNF5P1,PSME2P5,LINC02153,OR7E8P,MRPL49P2,USP17L2,ZNF705CP,NUGGC,C8orf86,HSPA8P11,FAM90A25P,USP17L7,RPL5P22,MIR320A,OR6R2P,LINC00589,C8orf58,DEFB108D,MBOAT4,KCTD9P6,MIR383,DEFB109D,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,DEFB130B,FAM66D,RPL35P6,RPL30P9,RPS20P22,RPL23P10,RPL23AP55,RPS3AP34,DEFB131D,DNAJB6P2,RPS3AP35,MIR548H4,ALG1L12P,MIR3926-1,MIR3148,MIR4287,MIR3622B,MIR3622A,MIR4288,COX6B1P4,MIR548V,MIR3926-2,SMIM18,LINC01605,MTND1P6,RNA5SP258,RNA5SP257,RNA5SP260,RNA5SP259,RPL10P18,RNA5SP262,RNA5SP264,RNA5SP256,RNA5SP261,NRG1-IT1,MIR5692A2,RNA5SP255,MTND4P7,MTND2P32,RANP9,LZTS1-AS1,RNU5A-3P,HMGB1P23,NRG1-IT3,LINC00681,RPL12P48,PCM1,PDGFRL,PPP2R2A,PPP3CC,PPP2CB,PNOC,LINC02099,EXTL3-AS1,MIR6841,MIR6842,MIR6843,MIR6876,LINC01288,LINC02866,RNA5SP263,RNU7-153P,STAR,SLC18A1,SLC7A2,SFTPC,STC1,TACC1,BUD31P1,RNU6-1218P,RNU6-178P,RNU6-528P,RNU6-397P,RNU6-988P,RN7SL621P,ENPP7P12,RN7SL303P,RN7SL457P,RNA5SP253,RNU6-323P,ALG1L11P,SUMO2P16,RNU4-71P,RNU6-336P,RN7SL709P,RN7SL474P,RNU6-892P,RNU6-533P,HMBOX1-IT1,RNU6-1086P,MTND6P19,RNU6-607P,RNU6-663P,RNU1-148P,RNU6-1276P,RNA5SP254,MTND4LP26,RNU6-842P,MTCYBP19,MTND5P41,ENPP7P6,SNORD38D,INTS9-AS1,TNFRSF10A-AS1,PPIAP84,SIRLNT,ADAM9,TNFRSF10A,TNFRSF10B,TUSC3,UBXN8,TNFRSF10C,ADAM7,OR7E15P,TNFRSF10D,ADAM18,FZD3,FGF17,WRN,HIKESHIP3,MTMR7,ASH2L,ENTPD4,PHYHIP,DOK2,SORBS3,BAG4,PNMA2,OR7E10P,PLPBP,NPM2,RBPMS,LZTS1,ERLIN2,ADAM28,DCTN6,DLC1,KIF13B,DDHD2,ADGRA2,XPO7,RHOBTB2,TRIM35,PSD3,SLC39A14,LEPROTL1
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_13
Unknown
ASAH1,ADRB3,CHRNA2,CLU,NATP,NAT1,ADRA1A,BNIP3L,ATP6V1B2,BMP1,POLR3D,NAT2,EXTL3,DPYSL2,PTK2B,EIF4EBP1,FGFR1,FGL1,EGR3,ADAM3A,DMTN,EPHX2,DUSP4,LSM1,FGF20,ADAMDEC1,SCARA3,PURG,CNOT7,SARAF,SLC25A37,MAP2K1P1,ZDHHC2,ELP3,INTS10,CCDC25,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,STMN4,REEP4,TTI2,RAB11FIP1,TM2D2,DOCK5,MAK16,FUT10,CHMP7,TUBBP1,LONRF1,PLPP5,RPL10AP3,NKX2-6,VPS37A,UNC5D,SGCZ,PPM1AP1,GOT1L1,LETM2,C8orf48,LGI3,PEBP4,FBXO16,CDCA2,ESCO2,HTRA4,KCNU1,SDAD1P1,R3HCC1,IDO2,ADAM32,GULOP,GNRH1,GFRA2,NRG1,GSR,IDO1,GTF2E2,ADAM2,ADAM5,LINC02209,SCARA5,MICU3,RNF5P1,PSME2P5,LINC02153,OR7E8P,MRPL49P2,NUGGC,C8orf86,HSPA8P11,RPL5P22,MIR320A,OR6R2P,LINC00589,C8orf58,MBOAT4,KCTD9P6,MIR383,VENTXP5,SMARCE1P4,RPS15AP24,CCT3P1,SINHCAFP3,RPL17P33,ADAM24P,RPL32P19,TMEM97P2,SNORD13,LSM12P1,BTF3P3,RBPMS-AS1,RPL3P10,LPL,NEFL,MSR1,LOXL2,NKX3-1,NEFM,EIF4EP5,RPL35P6,RPL30P9,RPS20P22,RPL23P10,RPL23AP55,DNAJB6P2,MIR548H4,MIR3926-1,MIR3148,MIR4287,MIR3622B,MIR3622A,MIR4288,COX6B1P4,MIR548V,MIR3926-2,SMIM18,LINC01605,MTND1P6,RNA5SP258,RNA5SP257,RNA5SP260,RNA5SP259,RPL10P18,RNA5SP262,RNA5SP264,RNA5SP256,RNA5SP261,NRG1-IT1,MIR5692A2,RNA5SP255,MTND4P7,MTND2P32,RANP9,LZTS1-AS1,RNU5A-3P,HMGB1P23,NRG1-IT3,LINC00681,RPL12P48,PCM1,PDGFRL,PPP2R2A,PPP3CC,PPP2CB,PNOC,LINC02099,EXTL3-AS1,MIR6841,MIR6842,MIR6843,MIR6876,LINC01288,LINC02866,RNA5SP263,RNU7-153P,STAR,SLC18A1,SLC7A2,SFTPC,STC1,TACC1,BUD31P1,RNU6-1218P,RNU6-178P,RNU6-528P,RNU6-397P,RNU6-988P,RN7SL621P,RN7SL303P,RN7SL457P,RNU6-323P,SUMO2P16,RNU4-71P,RNU6-336P,RN7SL709P,RN7SL474P,RNU6-892P,RNU6-533P,HMBOX1-IT1,RNU6-1086P,MTND6P19,RNU6-607P,RNU6-663P,RNU1-148P,RNU6-1276P,MTND4LP26,RNU6-842P,MTCYBP19,MTND5P41,SNORD38D,INTS9-AS1,TNFRSF10A-AS1,PPIAP84,SIRLNT,ADAM9,TNFRSF10A,TNFRSF10B,TUSC3,UBXN8,TNFRSF10C,ADAM7,OR7E15P,TNFRSF10D,ADAM18,FZD3,FGF17,WRN,HIKESHIP3,MTMR7,ASH2L,ENTPD4,PHYHIP,DOK2,SORBS3,BAG4,PNMA2,OR7E10P,PLPBP,NPM2,RBPMS,LZTS1,ERLIN2,ADAM28,DCTN6,DLC1,KIF13B,DDHD2,ADGRA2,XPO7,RHOBTB2,TRIM35,PSD3,SLC39A14,LEPROTL1
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_14
Unknown
ASAH1,ADRB3,CHRNA2,CLU,NATP,NAT1,ADRA1A,BNIP3L,ATP6V1B2,BMP1,POLR3D,NAT2,EXTL3,DPYSL2,PTK2B,EIF4EBP1,FGFR1,FGL1,EGR3,ADAM3A,DMTN,EPHX2,DUSP4,LSM1,FGF20,ADAMDEC1,SCARA3,PURG,CNOT7,SARAF,SLC25A37,MAP2K1P1,ZDHHC2,ELP3,INTS10,CCDC25,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,STMN4,REEP4,TTI2,RAB11FIP1,TM2D2,DOCK5,MAK16,FUT10,CHMP7,TUBBP1,LONRF1,PLPP5,FAM86B1,RPL10AP3,NKX2-6,VPS37A,UNC5D,SGCZ,PPM1AP1,GOT1L1,LETM2,C8orf48,LGI3,PEBP4,FBXO16,CDCA2,ESCO2,HTRA4,KCNU1,SDAD1P1,R3HCC1,IDO2,ADAM32,GULOP,GNRH1,GFRA2,NRG1,GSR,IDO1,GTF2E2,ADAM2,DEFB130A,DEFB109A,ADAM5,LINC02209,SCARA5,MICU3,RNF5P1,PSME2P5,LINC02153,OR7E8P,MRPL49P2,USP17L2,ZNF705CP,NUGGC,C8orf86,HSPA8P11,FAM90A25P,USP17L7,RPL5P22,MIR320A,OR6R2P,LINC00589,C8orf58,DEFB108D,MBOAT4,KCTD9P6,MIR383,DEFB109D,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,DEFB130B,FAM66D,RPL35P6,RPL30P9,RPS20P22,RPL23P10,RPL23AP55,RPS3AP34,DEFB131D,DNAJB6P2,RPS3AP35,MIR548H4,ALG1L12P,MIR3926-1,MIR3148,MIR4287,MIR3622B,MIR3622A,MIR4288,COX6B1P4,MIR548V,MIR3926-2,SMIM18,LINC01605,MTND1P6,RNA5SP258,RNA5SP257,RNA5SP260,RNA5SP259,RPL10P18,RNA5SP262,RNA5SP264,RNA5SP256,RNA5SP261,NRG1-IT1,MIR5692A2,RNA5SP255,MTND4P7,MTND2P32,RANP9,LZTS1-AS1,RNU5A-3P,HMGB1P23,NRG1-IT3,LINC00681,RPL12P48,PCM1,PDGFRL,PPP2R2A,PPP3CC,PPP2CB,PNOC,LINC02099,EXTL3-AS1,MIR6841,MIR6842,MIR6843,MIR6876,LINC01288,LINC02866,RNA5SP263,RNU7-153P,STAR,SLC18A1,SLC7A2,SFTPC,STC1,TACC1,BUD31P1,RNU6-1218P,RNU6-178P,RNU6-528P,RNU6-397P,RNU6-988P,RN7SL621P,ENPP7P12,RN7SL303P,RN7SL457P,RNA5SP253,RNU6-323P,ALG1L11P,SUMO2P16,RNU4-71P,RNU6-336P,RN7SL709P,RN7SL474P,RNU6-892P,RNU6-533P,HMBOX1-IT1,RNU6-1086P,MTND6P19,RNU6-607P,RNU6-663P,RNU1-148P,RNU6-1276P,RNA5SP254,MTND4LP26,RNU6-842P,MTCYBP19,MTND5P41,ENPP7P6,SNORD38D,INTS9-AS1,TNFRSF10A-AS1,PPIAP84,SIRLNT,ADAM9,TNFRSF10A,TNFRSF10B,TUSC3,UBXN8,TNFRSF10C,ADAM7,OR7E15P,TNFRSF10D,ADAM18,FZD3,FGF17,WRN,HIKESHIP3,MTMR7,ASH2L,ENTPD4,PHYHIP,DOK2,SORBS3,BAG4,PNMA2,OR7E10P,PLPBP,NPM2,RBPMS,LZTS1,ERLIN2,ADAM28,DCTN6,DLC1,KIF13B,DDHD2,ADGRA2,XPO7,RHOBTB2,TRIM35,PSD3,SLC39A14,LEPROTL1
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_15
Unknown
ASAH1,ADRB3,CHRNA2,CLU,NATP,NAT1,ADRA1A,BNIP3L,ATP6V1B2,BMP1,POLR3D,NAT2,EXTL3,DPYSL2,PTK2B,EIF4EBP1,FGFR1,FGL1,EGR3,ADAM3A,DMTN,EPHX2,DUSP4,LSM1,FGF20,ADAMDEC1,SCARA3,PURG,CNOT7,SARAF,SLC25A37,MAP2K1P1,ZDHHC2,ELP3,INTS10,CCDC25,KCTD9,NSD3,PIWIL2,BRF2,ZNF395,INTS9,CCAR2,TRMT9B,TEX15,HR,MTUS1,PBK,TPT1P8,TCIM,BIN3,PLEKHA2,CSGALNACT1,DUSP26,RNF122,PDLIM2,NUDT18,HMBOX1,EBF2,SH2D4A,ZNF703,STMN4,REEP4,TTI2,RAB11FIP1,TM2D2,DOCK5,MAK16,FUT10,CHMP7,TUBBP1,LONRF1,PLPP5,FAM86B1,RPL10AP3,NKX2-6,VPS37A,UNC5D,SGCZ,PPM1AP1,GOT1L1,LETM2,C8orf48,LGI3,PEBP4,FBXO16,CDCA2,ESCO2,HTRA4,KCNU1,SDAD1P1,R3HCC1,IDO2,ADAM32,GULOP,GNRH1,GFRA2,NRG1,GSR,IDO1,GTF2E2,ADAM2,DEFB130A,DEFB109A,ADAM5,LINC02209,SCARA5,MICU3,RNF5P1,PSME2P5,LINC02153,OR7E8P,MRPL49P2,USP17L2,ZNF705CP,NUGGC,C8orf86,HSPA8P11,FAM90A25P,USP17L7,RPL5P22,MIR320A,OR6R2P,LINC00589,C8orf58,DEFB108D,MBOAT4,KCTD9P6,MIR383,DEFB109D,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,FAM66D,RPL35P6,RPL30P9,RPS20P22,RPL23P10,RPL23AP55,RPS3AP34,DEFB131D,DNAJB6P2,RPS3AP35,MIR548H4,ALG1L12P,MIR3926-1,MIR3148,MIR4287,MIR3622B,MIR3622A,MIR4288,COX6B1P4,MIR548V,MIR3926-2,SMIM18,LINC01605,MTND1P6,RNA5SP258,RNA5SP257,RNA5SP260,RNA5SP259,RPL10P18,RNA5SP262,RNA5SP264,RNA5SP256,RNA5SP261,NRG1-IT1,MIR5692A2,RNA5SP255,MTND4P7,MTND2P32,RANP9,LZTS1-AS1,RNU5A-3P,HMGB1P23,NRG1-IT3,LINC00681,RPL12P48,PCM1,PDGFRL,PPP2R2A,PPP3CC,PPP2CB,PNOC,LINC02099,EXTL3-AS1,MIR6841,MIR6842,MIR6843,MIR6876,LINC01288,LINC02866,RNA5SP263,RNU7-153P,STAR,SLC18A1,SLC7A2,SFTPC,STC1,TACC1,BUD31P1,RNU6-1218P,RNU6-178P,RNU6-528P,RNU6-397P,RNU6-988P,RN7SL621P,ENPP7P12,RN7SL303P,RN7SL457P,RNU6-323P,ALG1L11P,SUMO2P16,RNU4-71P,RNU6-336P,RN7SL709P,RN7SL474P,RNU6-892P,RNU6-533P,HMBOX1-IT1,RNU6-1086P,MTND6P19,RNU6-607P,RNU6-663P,RNU1-148P,RNU6-1276P,RNA5SP254,MTND4LP26,RNU6-842P,MTCYBP19,MTND5P41,ENPP7P6,SNORD38D,INTS9-AS1,TNFRSF10A-AS1,PPIAP84,SIRLNT,ADAM9,TNFRSF10A,TNFRSF10B,TUSC3,UBXN8,TNFRSF10C,ADAM7,OR7E15P,TNFRSF10D,ADAM18,FZD3,FGF17,WRN,HIKESHIP3,MTMR7,ASH2L,ENTPD4,PHYHIP,DOK2,SORBS3,BAG4,PNMA2,OR7E10P,PLPBP,NPM2,RBPMS,LZTS1,ERLIN2,ADAM28,DCTN6,DLC1,KIF13B,DDHD2,ADGRA2,XPO7,RHOBTB2,TRIM35,PSD3,SLC39A14,LEPROTL1
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_16
Unknown
ASAH1,ADRB3,CHRNA2,CLU,NATP,NAT1,ADRA1A,BNIP3L,ATP6V1B2,BMP1,POLR3D,NAT2,EXTL3,DPYSL2,PTK2B,EIF4EBP1,FGFR1,FGL1,EGR3,ADAM3A,DMTN,EPHX2,DUSP4,LSM1,FGF20,ADAMDEC1,SCARA3,PURG,CNOT7,SARAF,SLC25A37,MAP2K1P1,ZDHHC2,ELP3,INTS10,CCDC25,KCTD9,NSD3,PIWIL2,BRF2,ZNF395,INTS9,CCAR2,TRMT9B,TEX15,HR,MTUS1,PBK,TPT1P8,TCIM,BIN3,PLEKHA2,CSGALNACT1,DUSP26,RNF122,PDLIM2,NUDT18,HMBOX1,EBF2,SH2D4A,ZNF703,STMN4,REEP4,TTI2,RAB11FIP1,TM2D2,DOCK5,MAK16,FUT10,CHMP7,TUBBP1,LONRF1,PLPP5,FAM86B1,RPL10AP3,NKX2-6,VPS37A,UNC5D,SGCZ,PPM1AP1,GOT1L1,LETM2,C8orf48,LGI3,PEBP4,FBXO16,CDCA2,ESCO2,HTRA4,KCNU1,SDAD1P1,R3HCC1,IDO2,ADAM32,GULOP,GNRH1,GFRA2,NRG1,GSR,IDO1,GTF2E2,ADAM2,DEFB130A,DEFB109A,ADAM5,LINC02209,SCARA5,MICU3,RNF5P1,PSME2P5,LINC02153,OR7E8P,MRPL49P2,USP17L2,ZNF705CP,NUGGC,C8orf86,HSPA8P11,FAM90A25P,USP17L7,RPL5P22,MIR320A,OR6R2P,LINC00589,C8orf58,DEFB108D,MBOAT4,KCTD9P6,MIR383,DEFB109D,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,FAM66D,RPL35P6,RPL30P9,RPS20P22,RPL23P10,RPL23AP55,RPS3AP34,DEFB131D,DNAJB6P2,RPS3AP35,MIR548H4,ALG1L12P,MIR3926-1,MIR3148,MIR4287,MIR3622B,MIR3622A,MIR4288,COX6B1P4,MIR548V,MIR3926-2,SMIM18,LINC01605,MTND1P6,RNA5SP258,RNA5SP257,RNA5SP260,RNA5SP259,RPL10P18,RNA5SP262,RNA5SP264,RNA5SP256,RNA5SP261,NRG1-IT1,MIR5692A2,RNA5SP255,MTND4P7,MTND2P32,RANP9,LZTS1-AS1,RNU5A-3P,HMGB1P23,NRG1-IT3,LINC00681,RPL12P48,PCM1,PDGFRL,PPP2R2A,PPP3CC,PPP2CB,PNOC,LINC02099,EXTL3-AS1,MIR6841,MIR6842,MIR6843,MIR6876,LINC01288,LINC02866,RNA5SP263,RNU7-153P,STAR,SLC18A1,SLC7A2,SFTPC,STC1,TACC1,BUD31P1,RNU6-1218P,RNU6-178P,RNU6-528P,RNU6-397P,RNU6-988P,RN7SL621P,ENPP7P12,RN7SL303P,RN7SL457P,RNA5SP253,RNU6-323P,ALG1L11P,SUMO2P16,RNU4-71P,RNU6-336P,RN7SL709P,RN7SL474P,RNU6-892P,RNU6-533P,HMBOX1-IT1,RNU6-1086P,MTND6P19,RNU6-607P,RNU6-663P,RNU1-148P,RNU6-1276P,RNA5SP254,MTND4LP26,RNU6-842P,MTCYBP19,MTND5P41,ENPP7P6,SNORD38D,INTS9-AS1,TNFRSF10A-AS1,PPIAP84,SIRLNT,ADAM9,TNFRSF10A,TNFRSF10B,TUSC3,UBXN8,TNFRSF10C,ADAM7,OR7E15P,TNFRSF10D,ADAM18,FZD3,FGF17,WRN,HIKESHIP3,MTMR7,ASH2L,ENTPD4,PHYHIP,DOK2,SORBS3,BAG4,PNMA2,OR7E10P,PLPBP,NPM2,RBPMS,LZTS1,ERLIN2,ADAM28,DCTN6,DLC1,KIF13B,DDHD2,ADGRA2,XPO7,RHOBTB2,TRIM35,PSD3,SLC39A14,LEPROTL1
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_8
Unknown
ASAH1,ADRB3,CHRNA2,CLU,NATP,NAT1,ADRA1A,BNIP3L,ANK1,ATP6V1B2,BMP1,POLR3D,NAT2,EXTL3,DPYSL2,PTK2B,EIF4EBP1,FGFR1,FGL1,EGR3,ADAM3A,DMTN,EPHX2,DUSP4,LSM1,DKK4,FGF20,ADAMDEC1,SCARA3,PURG,CNOT7,SARAF,GOLGA7,SLC25A37,MAP2K1P1,ZDHHC2,ELP3,INTS10,CCDC25,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,TTI2,RAB11FIP1,TM2D2,DOCK5,MAK16,FUT10,CHMP7,TUBBP1,LONRF1,PLPP5,SMIM19,RPL10AP3,NKX2-6,GPAT4,VPS37A,UNC5D,SGCZ,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,SCARA5,MICU3,RNF5P1,PSME2P5,LINC02153,MRPL49P2,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,RPL35P6,RPL30P9,RPL5P23,RPS20P22,RPL23P10,RPL23AP55,DNAJB6P2,MIR548H4,MIR3926-1,MIR3148,MIR4287,MIR3622B,MIR3622A,MIR4288,COX6B1P4,MIR548V,MIR3926-2,SMIM18,LINC01605,MTND1P6,RNA5SP258,RNA5SP257,RNA5SP260,MIR548AO,RNA5SP259,RPL10P18,RNA5SP262,RNA5SP264,RNA5SP256,RNA5SP261,NRG1-IT1,MIR5692A2,RNA5SP255,MTND4P7,MTND2P32,RANP9,LZTS1-AS1,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,RNU6-528P,RNU6-397P,RNU6-356P,RNU6-988P,RNU6-895P,RN7SL621P,RN7SL303P,RN7SL457P,RNU6-323P,RN7SL149P,SUMO2P16,RNU4-71P,RNU6-336P,RN7SL709P,RN7SL474P,RNU6-892P,RNU6-533P,HMBOX1-IT1,RNU6-1086P,MTND6P19,RNU6-607P,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,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_9
Unknown
ASAH1,ADRB3,CHRNA2,CLU,NATP,NAT1,ADRA1A,BNIP3L,ANK1,ATP6V1B2,BMP1,POLR3D,NAT2,EXTL3,DPYSL2,PTK2B,EIF4EBP1,FGFR1,FGL1,EGR3,ADAM3A,DMTN,EPHX2,DUSP4,LSM1,DKK4,FGF20,ADAMDEC1,SCARA3,PURG,CNOT7,SARAF,GOLGA7,SLC25A37,MAP2K1P1,ZDHHC2,ELP3,INTS10,CCDC25,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,TTI2,RAB11FIP1,TM2D2,DOCK5,MAK16,FUT10,CHMP7,TUBBP1,LONRF1,PLPP5,RPL10AP3,NKX2-6,GPAT4,VPS37A,UNC5D,SGCZ,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,SCARA5,MICU3,RNF5P1,PSME2P5,LINC02153,OR7E8P,MRPL49P2,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,RPL35P6,RPL30P9,RPL5P23,RPS20P22,RPL23P10,RPL23AP55,DNAJB6P2,MIR548H4,MIR3926-1,MIR3148,MIR4287,MIR3622B,MIR3622A,MIR4288,COX6B1P4,MIR548V,MIR3926-2,SMIM18,LINC01605,MTND1P6,RNA5SP258,RNA5SP257,RNA5SP260,MIR548AO,RNA5SP259,RPL10P18,RNA5SP262,RNA5SP264,RNA5SP256,RNA5SP261,NRG1-IT1,MIR5692A2,RNA5SP255,MTND4P7,MTND2P32,RANP9,LZTS1-AS1,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,TACC1,BUD31P1,RNU6-1218P,RNU6-178P,RNU6-528P,RNU6-397P,RNU6-356P,RNU6-988P,RNU6-895P,RN7SL621P,RN7SL303P,RN7SL457P,RNU6-323P,RN7SL149P,SUMO2P16,RNU4-71P,RNU6-336P,RN7SL709P,RN7SL474P,RNU6-892P,RNU6-533P,HMBOX1-IT1,RNU6-1086P,MTND6P19,RNU6-607P,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,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-case1356-0
qPCR
De novo
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,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,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,SGCZ,TUSC3,PSD3,LPL,TNFRSF10B,RBPMS,NRG1,UNC5D,ERLIN2,TACC1,ZMAT4,RNF122,KAT6A
Controls
No Control Data Available
No Animal Model Data Available