8p23.3-p22CNV Type: Duplication
Largest CNV size: 17398956 bp
Statistics Box:
Number of Reports: 6
Number of Reports: 6
Summary Information
Rare singleton duplication within this region was found in a case 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
Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort.
Deletion
Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chaves_24_ASD/DD/ID_discovery_cases
CMA read files performed by the Laboratrio Neurogene in Florianpolis, Santa Catarina, Brazil, upon request by medical geneticists and neurologists for investigative/diagnostic purposes, primarily from the Joana de Gusmo Children's Hospital, but also from MDs from the University Hospital Professor Polydoro Ernani de So Thiago and from private clinics in Florianpolis, State of Santa Catarina, betwee
1012
83% of cases presented with developmental delay (DD) and/or intellectual disability (ID), with 33% of cases presented with autism spectrum disorder.
Mean age, 10yrs. (median7.15 yrs., standard deviation10.2).
60.77% Male
14029840
0
1
1
guo_17_ASD_discovery_cases
ASD subjects (with 343 trios) screened for rare, large (>1 Mb) CNVs
546
Diagnosis of ASD based on DSM-IV-TR criteria
Mean, 5.065 years
N/A
15273928
1
0
1
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
17392351
1
0
1
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
17398956
0
1
1
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
17932695
2
0
2
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
2691
1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
76.37% Male
14916695
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
guo_17_ASD_discovery_controls
Control subjects screened for rare, large (>1 Mb) CNVs
988
No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
Mean, 34.3 years
N/A
0
0
0
0
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
chaves_24_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
guo_17_ASD_discovery_cases
Chinese Han
Solid phase hybridization
Illumina 370K or 660K BeadChip
PennCNV
qPCR
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
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
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
guo_17_ASD_discovery_controls
Chinese Han
Solid phase hybridization
Illumina 610K BeadChip
PennCNV
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
chaves_24_ASD/DD/ID_discovery_cases-case689
F
Developmental delay and intellectual disability
Intraventricular communication, patent foramen ovale, aortic stenosis, pulmonary stenosis, inguinal hernia, long palpebral fissures, developmental delay. Karyotype: 46,XX,14pst+.
Intellectual disability
208049
14237888
14029840
GRCh38
Duplication
No
guo_17_ASD_discovery_cases-caseM9118
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV-TR criteria; no other clinical information available
851912
16163959
15312048
GRCh38
Deletion
Yes
han_22_ASD/DD/ID_discovery_cases-case19D0085
14 mos. 5 days
F
Developmental delay
Abnormal hearing, congenital heart disease, facial dysmorphism
208048
17600398
17392351
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004861
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
241530
17678697
17437168
GRCh38
Duplication
Yes
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_26
25 yrs.
F
Epilepsy/seizures
Neonatal history: Respiratory distress, Hypoglycemia, Thermoregulation issues, Nuchal cord. Neurobehavioral profile: Aggessivity/Tantrums/Impulsivity. Neurologic profile: Hypotonia, Hypertonia, Difficulty walking/Wobbly, clumsy gait. Seizures: Generalized complex. EEG: Other abnormal activity. Cardiac issues: VSD, ASD, PS, Arrhythmia. Visual abnormalities: Refractive error, Strabismus. Gastrointestinal abnormalities: Constipation, GERD, Other gastrointestinal abnormalities. Musculoskeletal abnormalities: Equinovarus/equinovalgus. Genitourinary abnormalities: VUR. Growth and Endocrine abnormalities: Short stature, Obesity/Overweight, Hypo/hyperthyroidism, Diabetes mellitus. Frequent infections: Otitis media, Urinary tract infections, Lower respiratory infections. Dental: Caries, Delayed eruption.
208047
18140741
17932695
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_27
26.3 yrs.
M
Epilepsy/seizures
Prenatal history: SGA. Neurologic profile: Hypertonia, Difficulty walking/Wobbly, clumsy gait, Microcephaly, Coordination problems. Seizures: Tonic-clonic. EEG: Other abnormal activity. Cardiac issues: VSD, ASD, PDA, PS, DORV. Visual abnormalities: Refractive error. Gastrointestinal abnormalities: GERD, Other gastrointestinal abnormalities. Growth and Endocrine abnormalities: Obesity/Overweight. Frequent infections: Upper respiratory infections. Dental abnormalities: Small teeth, Crooked teeth.
208047
13737337
13529291
GRCh38
Deletion
No
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case238143S
N/A
M
ADHD
Primary diagnosis: ADHD. Additional phenotype(s): Oppositional defiant disorder, ASD traits, query language delay
1175565
16184750
15009186
GRCh38
Deletion
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
chaves_24_ASD/DD/ID_discovery_cases-case689
Unknown
ANGPT2,BLK,DEFA5,FDFT1,CLN8,CTSB,DEFA4,DEFA6,DEFA3,DEFA1,DEFB1,DEFB4A,PINX1,AGPAT5,TRMT9B,DEFB103B,MCPH1,CSMD1,MTMR9,PPP1R3B,FAM167A,SLC35G5,LINC00529,FAM167A-AS1,SOX7,LINC00208,FAM86B1,LONRF1,RP1L1,ERI1,CLDN23,SGCZ,DEFB104A,PRSS55,C8orf74,MIR124-1HG,C8orf48,ERICH1,TDRP,TDH,ZNF596,FAM87A,PRAG1,DEFT1P,GATA4,HSPD1P3,DEFB130A,NEIL2,DEFB105A,DEFB106A,DEFB109A,DEFB107A,XKR6,FAM86B3P,USP17L2,OR7E8P,PRSS51,OR7E125P,OR7E161P,FAM90A6P,FAM90A3P,FAM90A25P,ZNF705CP,USP17L8,USP17L7,RPL19P13,RPL23AP96,XKR5,FAM90A15P,OR7E158P,OR7E96P,OR7E157P,DEFB103A,FAM90A13P,FAM90A11P,OR7E154P,FAM90A4P,MIR124-1,FAM90A24P,USP17L1,FAM90A5P,DEFB109B,DEFA9P,DEFB108D,DEFB108C,FAM90A21P,DEFA10P,DEFB107B,DEFB135,DEFB134,DEFB109D,DEFB106B,DEFB105B,DEFB104B,DEFA8P,DEFB108A,DEFB136,DEFB108E,USP17L3,RPL10P19,FAM90A12P,HSPD1P2,USP17L4,RPL23AP53,MIR598,DEFA11P,MIR596,MIR597,DEFA7P,FAM86B2,SUB1P1,ZNF705D,SPAG11A,DEFA1B,FAM90A20P,PAICSP4,FAM90A2P,DEFB131C,FAM66B,TDH-AS1,MSRA,PRR23D1,ZNF705G,PRR23D2,FAM66E,DEFB130B,FAM66D,FAM66A,ZNF705B,DEFB109C,RPS3AP35,DEFB131D,RPS3AP30,RPL23AP54,RPS3AP31,DEFT1P2,DEFB4B,RPS3AP34,RPS3AP33,MCPH1-DT,PRSS52P,MIR1322,SNRPCP15,MIR548I3,SNRPCP6,ENPP7P1,ALG1L12P,MIR3926-1,MIR3926-2,MIR4286,MIR3674,MCPH1-AS1,MIR4659B,MIR4659A,MIR4660,DLGAP2-AS1,RNA5SP252,MTND4P7,RNA5SP255,MIR5692A2,RNA5SP251,LINC00681,CLN8-AS1,KBTBD11-AS1,RNU7-55P,PINX1-DT,PRR23D3P,MIR8055,MIR7160,KBTBD11-OT1,MSRA-DT,ALG1L13P,RN7SL178P,FAM85B,ENPP7P12,RNU6-1084P,RNU6-682P,RNU6-729P,RNA5SP253,RN7SKP159,RNU6-526P,ALG1L11P,RN7SL318P,SNRPCP17,RNA5SP254,RNU6-842P,RNU6-1151P,RN7SL293P,ENPP7P6,DEFB131E,TNKS,OR7E15P,MYOM2,ARHGEF10,DLGAP2,MFHAS1,KBTBD11,SPAG11B,DLC1,OR7E10P,FBXO25
guo_17_ASD_discovery_cases-caseM9118
qPCR
De novo
MIR3674,MIR596,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,DEFA7P,DEFA5,RPS3AP30,SNRPCP6,SNRPCP15,RPS3AP33,OR7E125P,FAM90A3P,FAM90A13P,FAM90A5P,FAM90A20P,DEFB109B,USP17L1,USP17L4,DEFB108C,DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,DEFB131C,DEFB130B,RNA5SP253,DEFB108D,USP17L7,USP17L2,DEFB109D,ALG1L11P,DEFB131D,DEFB130A,RNA5SP254,DEFB108E,ZNF705CP,DEFB109A,FAM90A25P,ALG1L12P,RPS3AP34,RPS3AP35,OR7E8P,OR7E15P,OR7E10P,MIR5692A2,MIR3926-1,MIR3926-2,RNU6-842P,MTND4P7,RNA5SP255,C8orf48,EIF4EP5,RNU7-153P,RNU6-397P,MIR383,PPM1AP1,CLN8,KBTBD11,AGPAT5,GS1-24F4.2,DEFA1,DEFA11P,FAM90A15P,FAM90A4P,ZNF705G,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ZNF705D,FAM66D,FAM90A2P,ENPP7P12,FAM66A,FAM86B2,LONRF1,LINC00681,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,MCPH1,ANGPT2,MCPH1-AS1,XKR5,DEFB104B,SPAG11A,FAM66E,DEFB109C,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,FAM86B1,ENPP7P6,TRMT9B,DLC1,MSR1,DLGAP2,MYOM2,CSMD1,FAM66B,PRSS51,BLK,SGCZ,TUSC3
han_22_ASD/DD/ID_discovery_cases-case19D0085
De novo
ANGPT2,BLK,DEFA5,FDFT1,CLN8,CTSB,DEFA4,DEFA6,DEFA3,DEFA1,DEFB1,DEFB4A,FGF20,CNOT7,ZDHHC2,PINX1,AGPAT5,TRMT9B,DEFB103B,MCPH1,CSMD1,MTMR9,PPP1R3B,FAM167A,SLC35G5,LINC00529,FAM167A-AS1,SOX7,LINC00208,FAM86B1,LONRF1,RP1L1,ERI1,VPS37A,CLDN23,SGCZ,DEFB104A,PPM1AP1,PRSS55,C8orf74,MIR124-1HG,C8orf48,ERICH1,TDRP,TDH,ZNF596,FAM87A,PRAG1,DEFT1P,GATA4,HSPD1P3,DEFB130A,NEIL2,DEFB105A,DEFB106A,DEFB109A,DEFB107A,MICU3,XKR6,FAM86B3P,USP17L2,OR7E8P,PRSS51,MRPL49P2,OR7E125P,OR7E161P,FAM90A6P,FAM90A3P,FAM90A25P,ZNF705CP,USP17L8,USP17L7,RPL19P13,RPL23AP96,XKR5,FAM90A15P,OR7E158P,OR7E96P,OR7E157P,DEFB103A,FAM90A13P,FAM90A11P,OR7E154P,FAM90A4P,MIR124-1,FAM90A24P,USP17L1,FAM90A5P,DEFB109B,DEFA9P,DEFB108D,DEFB108C,FAM90A21P,DEFA10P,MIR383,DEFB107B,DEFB135,DEFB134,DEFB109D,DEFB106B,DEFB105B,DEFB104B,DEFA8P,DEFB108A,DEFB136,DEFB108E,CCT3P1,USP17L3,RPL10P19,FAM90A12P,RPL32P19,HSPD1P2,ADAM24P,USP17L4,RPL23AP53,MIR598,DEFA11P,MIR596,MIR597,DEFA7P,FAM86B2,SUB1P1,ZNF705D,SPAG11A,DEFA1B,FAM90A20P,PAICSP4,FAM90A2P,DEFB131C,FAM66B,TDH-AS1,MSR1,MSRA,EIF4EP5,PRR23D1,ZNF705G,PRR23D2,FAM66E,DEFB130B,FAM66D,FAM66A,ZNF705B,DEFB109C,RPS3AP35,DEFB131D,RPS3AP30,RPL23AP54,RPS3AP31,DEFT1P2,DEFB4B,RPS3AP34,RPS3AP33,MCPH1-DT,PRSS52P,MIR1322,SNRPCP15,MIR548I3,SNRPCP6,ENPP7P1,ALG1L12P,MIR3926-1,MIR3926-2,MIR4286,MIR3674,MCPH1-AS1,MIR4659B,MIR4659A,MIR4660,DLGAP2-AS1,RNA5SP252,MTND4P7,RNA5SP255,MIR5692A2,RNA5SP251,LINC00681,CLN8-AS1,KBTBD11-AS1,PDGFRL,RNU7-55P,PINX1-DT,PRR23D3P,MIR8055,MIR7160,KBTBD11-OT1,MSRA-DT,RNU7-153P,ALG1L13P,RN7SL178P,FAM85B,SLC7A2,ENPP7P12,RNU6-1084P,RNU6-682P,RNU6-397P,RNU6-729P,RNA5SP253,RN7SKP159,RN7SL474P,RNU6-526P,ALG1L11P,RN7SL318P,SNRPCP17,RNA5SP254,RNU6-842P,RNU6-1151P,RN7SL293P,ENPP7P6,DEFB131E,TNKS,OR7E15P,TUSC3,MTMR7,MYOM2,ARHGEF10,DLGAP2,MFHAS1,KBTBD11,SPAG11B,DLC1,OR7E10P,FBXO25
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004861
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3674,MIR596,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,DEFA7P,DEFA5,RPS3AP30,SNRPCP6,SNRPCP15,RPS3AP33,OR7E125P,FAM90A3P,FAM90A13P,FAM90A5P,FAM90A20P,DEFB109B,USP17L1,USP17L4,DEFB108C,DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,DEFB131C,DEFB130B,RNA5SP253,DEFB108D,USP17L7,USP17L2,DEFB109D,ALG1L11P,DEFB131D,DEFB130A,RNA5SP254,DEFB108E,ZNF705CP,DEFB109A,FAM90A25P,ALG1L12P,RPS3AP34,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,FAM87A,FBXO25,CLN8,KBTBD11,AGPAT5,GS1-24F4.2,DEFA1,DEFA11P,FAM90A15P,FAM90A4P,ZNF705G,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ZNF705D,FAM66D,FAM90A2P,ENPP7P12,FAM66A,FAM86B2,LONRF1,LINC00681,CNOT7,PDGFRL,ZNF596,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,MCPH1,ANGPT2,MCPH1-AS1,XKR5,DEFB104B,SPAG11A,FAM66E,DEFB109C,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,FAM86B1,ENPP7P6,TRMT9B,DLC1,MSR1,MICU3,ZDHHC2,VPS37A,MTMR7,SLC7A2,MTUS1,DLGAP2,MYOM2,CSMD1,FAM66B,PRSS51,BLK,SGCZ,TUSC3
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_26
Unknown
ASAH1,ANGPT2,BLK,DEFA3,FDFT1,FGL1,CLN8,DEFA4,CTSB,DEFB1,DEFB4A,DEFA5,DEFA6,DEFA1,FGF20,CNOT7,ZDHHC2,AGPAT5,PINX1,TRMT9B,MTUS1,DEFB103B,MTMR9,MCPH1,PPP1R3B,CSMD1,FAM167A,SOX7,LINC00529,SLC35G5,LINC00208,FAM167A-AS1,ERI1,RP1L1,LONRF1,FAM86B1,DEFB104A,VPS37A,SGCZ,PPM1AP1,CLDN23,MIR124-1HG,PRSS55,C8orf48,PRAG1,DEFT1P,TDH,C8orf74,TDRP,ZNF596,FAM87A,ERICH1,HSPD1P3,GATA4,NEIL2,DEFB107A,DEFB130A,DEFB106A,DEFB109A,DEFB105A,XKR6,FAM86B3P,MICU3,OR7E8P,MRPL49P2,USP17L2,PRSS51,FAM90A6P,FAM90A15P,FAM90A3P,ZNF705CP,RPL19P13,RPL23AP96,OR7E125P,OR7E161P,OR7E158P,USP17L8,XKR5,FAM90A25P,USP17L7,OR7E154P,DEFB103A,FAM90A16P,FAM90A18P,FAM90A24P,USP17L1,MIR124-1,FAM90A4P,FAM90A9P,FAM90A11P,FAM90A5P,FAM90A13P,OR7E96P,FAM90A10P,OR7E157P,FAM90A7P,FAM90A8P,DEFB109B,DEFB106B,FAM90A21P,DEFB134,DEFB108D,DEFB108A,DEFB108C,DEFB135,MIR383,DEFB107B,DEFB105B,DEFB109D,DEFB108E,DEFB136,DEFA8P,DEFB104B,DEFA10P,DEFA9P,FAM90A14P,CCT3P1,FAM90A22P,HSPD1P2,USP17L3,FAM90A23P,RPL10P19,ADAM24P,RPL32P19,FAM90A12P,RPL23AP53,USP17L4,FAM90A19P,FAM90A17P,DEFA1B,SPAG11A,DEFA11P,FAM86B2,MIR598,DEFA7P,MIR596,ZNF705D,FAM90A20P,MIR597,SUB1P1,PAICSP4,DEFB131C,FAM90A2P,FAM66B,MSR1,MSRA,PRR23D2,EIF4EP5,FAM66E,PRR23D1,ZNF705G,FAM66A,DEFB130B,ZNF705B,FAM66D,RPS3AP34,RPL23AP54,DEFT1P2,DEFB4B,DEFB109C,RPS3AP31,RPS3AP33,DEFB131D,RPS3AP35,RPS3AP30,MIR1322,MIR548I3,PRSS52P,SNRPCP6,SNRPCP15,ALG1L12P,MIR3926-1,MIR4286,ENPP7P1,MIR548V,MIR3926-2,MIR3674,MCPH1-AS1,MIR4659B,MIR4660,DLGAP2-AS1,MIR4659A,RNA5SP252,RNA5SP251,RNA5SP256,MIR5692A2,RNA5SP255,MTND4P7,LINC00681,RNU7-55P,PCM1,PDGFRL,PRR23D3P,MIR7160,MIR8055,KBTBD11-OT1,FAM85B,RN7SL178P,ALG1L13P,RNU7-153P,SLC7A2,RNU6-1084P,RNU6-682P,RNU6-397P,ENPP7P12,RN7SL318P,RN7SKP159,RNA5SP253,RNU6-526P,ALG1L11P,RN7SL474P,RN7SL293P,RNU6-1151P,SNRPCP17,RNA5SP254,RNU6-729P,RNU6-842P,ENPP7P6,DEFB131E,TNKS,TUSC3,OR7E15P,DLGAP2,MYOM2,KBTBD11,MTMR7,ARHGEF10,MFHAS1,OR7E10P,SPAG11B,DLC1,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_27
Unknown
ANGPT2,BLK,DEFA3,FDFT1,CLN8,DEFA4,CTSB,DEFB1,DEFB4A,DEFA5,DEFA6,DEFA1,AGPAT5,PINX1,TRMT9B,DEFB103B,MTMR9,MCPH1,PPP1R3B,CSMD1,FAM167A,SOX7,LINC00529,SLC35G5,LINC00208,FAM167A-AS1,ERI1,RP1L1,LONRF1,FAM86B1,DEFB104A,CLDN23,MIR124-1HG,PRSS55,C8orf48,PRAG1,DEFT1P,TDH,C8orf74,TDRP,ZNF596,FAM87A,ERICH1,HSPD1P3,GATA4,NEIL2,DEFB107A,DEFB130A,DEFB106A,DEFB109A,DEFB105A,XKR6,FAM86B3P,OR7E8P,USP17L2,PRSS51,FAM90A6P,FAM90A15P,FAM90A3P,ZNF705CP,RPL19P13,RPL23AP96,OR7E125P,OR7E161P,OR7E158P,USP17L8,XKR5,FAM90A25P,USP17L7,OR7E154P,DEFB103A,FAM90A16P,FAM90A18P,FAM90A24P,USP17L1,MIR124-1,FAM90A4P,FAM90A9P,FAM90A11P,FAM90A5P,FAM90A13P,OR7E96P,FAM90A10P,OR7E157P,FAM90A7P,FAM90A8P,DEFB109B,DEFB106B,FAM90A21P,DEFB134,DEFB108D,DEFB108A,DEFB108C,DEFB135,DEFB107B,DEFB105B,DEFB109D,DEFB108E,DEFB136,DEFA8P,DEFB104B,DEFA10P,DEFA9P,FAM90A14P,FAM90A22P,HSPD1P2,USP17L3,FAM90A23P,RPL10P19,FAM90A12P,RPL23AP53,USP17L4,FAM90A19P,FAM90A17P,DEFA1B,SPAG11A,DEFA11P,FAM86B2,MIR598,DEFA7P,MIR596,ZNF705D,FAM90A20P,MIR597,SUB1P1,PAICSP4,DEFB131C,FAM90A2P,FAM66B,MSRA,PRR23D2,FAM66E,PRR23D1,ZNF705G,FAM66A,DEFB130B,ZNF705B,FAM66D,RPS3AP34,RPL23AP54,DEFT1P2,DEFB4B,DEFB109C,RPS3AP31,RPS3AP33,DEFB131D,RPS3AP35,RPS3AP30,MIR1322,MIR548I3,PRSS52P,SNRPCP6,SNRPCP15,ALG1L12P,MIR3926-1,MIR4286,ENPP7P1,MIR3926-2,MIR3674,MCPH1-AS1,MIR4659B,MIR4660,DLGAP2-AS1,MIR4659A,RNA5SP252,RNA5SP251,MIR5692A2,RNA5SP255,MTND4P7,LINC00681,RNU7-55P,PRR23D3P,MIR7160,MIR8055,KBTBD11-OT1,FAM85B,RN7SL178P,ALG1L13P,RNU6-1084P,RNU6-682P,ENPP7P12,RN7SL318P,RN7SKP159,RNA5SP253,RNU6-526P,ALG1L11P,RN7SL293P,RNU6-1151P,SNRPCP17,RNA5SP254,RNU6-729P,RNU6-842P,ENPP7P6,DEFB131E,TNKS,OR7E15P,DLGAP2,MYOM2,KBTBD11,ARHGEF10,MFHAS1,OR7E10P,SPAG11B,DLC1,FBXO25
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case238143S
RT-qPCR or WGS
Unknown
MIR3674,MIR596,KBTBD11-OT1,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,DEFA7P,DEFA5,RPS3AP30,SNRPCP6,SNRPCP15,RPS3AP33,OR7E125P,FAM90A3P,FAM90A13P,FAM90A5P,FAM90A20P,DEFB109B,USP17L1,USP17L4,DEFB108C,DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,DEFB131C,DEFB130B,RNA5SP253,DEFB108D,USP17L7,USP17L2,DEFB109D,ALG1L11P,DEFB131D,DEFB130A,RNA5SP254,DEFB108E,ZNF705CP,DEFB109A,FAM90A25P,ALG1L12P,RPS3AP34,RPS3AP35,OR7E8P,OR7E15P,OR7E10P,MIR5692A2,MIR3926-1,MIR3926-2,RNU6-842P,MTND4P7,RNA5SP255,C8orf48,EIF4EP5,RNU7-153P,RNU6-397P,MIR383,PPM1AP1,CLN8,KBTBD11,AGPAT5,DEFA1,DEFA11P,FAM90A15P,FAM90A4P,ZNF705G,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ZNF705D,FAM66D,FAM90A2P,ENPP7P12,FAM66A,FAM86B2,LONRF1,LINC00681,DLGAP2-AS1,ARHGEF10,MCPH1,ANGPT2,MCPH1-AS1,XKR5,DEFB104B,SPAG11A,FAM66E,DEFB109C,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,FAM86B1,ENPP7P6,TRMT9B,DLC1,MSR1,DLGAP2,MYOM2,CSMD1,FAM66B,PRSS51,BLK,SGCZ,TUSC3
null
Controls
No Control Data Available
No Animal Model Data Available