4q35.1-q35.2CNV Type: Deletion-Duplication
Largest CNV size: 6800000 bp
Statistics Box:
Number of Reports: 12
Number of Reports: 12
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Duplication
Identification and molecular characterization of two novel chromosomal deletions associated with autism.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
NA
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
Deletion
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Dis...
Deletion
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Duplication
Clinical Targeted Panel Sequencing Analysis in Clinical Evaluation of Children with Autism Spectrum Disorder in China
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
battaglia_13_DD/ID/ASD_discovery_cases
Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011
349
34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)
Range, 5 mos.-19 yrs.
63.9% Male
6000000
1
0
1
chien_10_ASD_discovery_cases
ASD patients from Chang Gung Memorial Hospital & National Taiwan University Hospital
44
ASD
Mean, 8.0 3.8
90.9% Male
6800000
1
0
1
girirajan_12_ASD/DD/ID_discovery_cases
Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
32587
Developmental delay with or without congenital malformations
1486509
NA
NA
1
hu_22_ASD_discovery_cases
Patients receiving a diagnosis of ASD in the Department of Child Health Care, Children's Hospital of Fudan University, that were included consecutively from January 2019 to December 2020.
573
Cases met criteria for autism spectrum disorder (ASD) using DSM-5 criteria.
Range, 16 mos.-12.8 yrs. (mean, 3.6 yrs)
80.1% Male
4451630
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
8520096
6
1
7
kushima_18_ASD_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
1108
Cases were diagnosed with ASD according to DSM-5 criteria, with diagnostic and screening instruments (ADI-R, ADOS, ASQ, and SRS) used to evaluate ASD-related behaviors and symptoms in the majority of cases.
Median age, 19 years
78.0% Male
3170530
0
1
1
kushima_22_ASD_discovery_cases
Japanese ASD probands evaluated for copy number variation from an initial cohort of 1,236 probands before quality control.
1205
Cases diagnosed with autism spectrum disorder (ASD) according to DSM-5 criteria.
Median age, 19 yrs.
77.6% Male
3170531
0
1
1
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
1425000
0
1
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
201520
0
1
1
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
201666
0
1
1
shin_15_ASD/DD/ID_discovery_cases
Patients with normal karyotype referred for further genetic testing from March 2012-April 2014
96
34 cases with ASD, 54 cases with DD/ID, 8 cases with ASD and DD/ID
N/A
69.8% Male
5606000
1
0
1
szatmari_07_ASD_discovery_cases
ASD patients from 173 families with at least two affected individuals from AGP
196
Patients diagnosed with ASD based on ADI-R and ADOS
3501000
0
3
3
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
girirajan_12_ASD/DD/ID_discovery_controls
Persons found to have no overt neurological disorders during screening for other studies
8329
Control
1486509
NA
NA
NA
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
kushima_18_ASD/SCZ_discovery_controls
Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
2095
Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
Median age, 37 years
52.0% Male
0
0
0
0
kushima_22_ASD/BPD/SCZ_discovery_controls
Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
2671
Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
Median age, 36 yrs.
47.8% Male
0
0
0
0
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
201520
0
0
0
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
battaglia_13_DD/ID/ASD_discovery_cases
Italy
aCGH, array SNP
BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
FISH, qPCR
chien_10_ASD_discovery_cases
Chinese
aCGH
Nimble HD2
FISH, qPCR
girirajan_12_ASD/DD/ID_discovery_cases
aCGH
BACs aCGH, SignatureChipOS
FISH, aCGH, or confirmation by inheritance
hu_22_ASD_discovery_cases
China
Targeted gene panel sequencing
Illumina HiSeq X10
CANOES, HMZDelFinder
PICNIC, AnnotSV
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
kushima_18_ASD_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
shin_15_ASD/DD/ID_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS v.2.1, Nexus Copy Number v.7.5 (BioDiscovery)
None
szatmari_07_ASD_discovery_cases
Array SNP
Affymetrix 10K (v2)
HMM
dChip
Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
girirajan_12_ASD/DD/ID_discovery_controls
aCGH
BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
battaglia_13_DD/ID/ASD_discovery_cases-case30
4 yrs. 7 mos.
M
Borderline DD/ID
Autism: no. Epilepsy: no. Dysmorphic features: yes.
Borderline DD/ID
184217577
189963105
5745529
GRCh38
Deletion
Yes
chien_10_ASD_discovery_cases-patient1
8
M
ASD
Motor and speech delay, lack of response to social reciprocity, restricted activities
IQ 96
182745853
189561852
6816000
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case40822
NA
M
Developmental delay
NA
NA
185498279
186984788
1486510
GRCh38
NA
Yes
hu_22_ASD_discovery_cases-case18
NA
M
ASD
Case met criteria for ASD using DSM-5.
185500658
189952287
4451630
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000389
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
183528264
188624331
5096068
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002290
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
183354112
190042639
6688528
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004045
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
181455566
189975660
8520095
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004444
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
185351249
189867552
4516304
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004652
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
185738786
186557156
818371
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005267
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
185074103
189867552
4793450
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005316
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
185498280
186984787
1486508
GRCh38
Deletion
Yes
kushima_18_ASD_discovery_cases-caseASD0082
25 yrs.
M
ASD, OCD, epilepsy/seizures
Language and communication evaluation: stuttering. Behavioral/psychiatric evaluation: OCD. Epilepsy/seizures: positive for epileptic seizures/epilepsy. Congenital and developmental phenotypes: macrocephaly. Family history: positive for MDD.
IQ > 70
185324779
188495308
3170530
GRCh38
Duplication
N/A
kushima_22_ASD_discovery_cases-caseASD0082
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
185324778
188495308
3170531
GRCh38
Duplication
Yes
maini_18_ASD/DD/ID_discovery_cases-case_unknown169
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
185693904
187118411
1424508
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case58472L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
187168698
187370217
201520
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11025.p1
4.6
F
ASD
NA
Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 92
186010756
186212422
201667
GRCh38
Duplication
No
shin_15_ASD/DD/ID_discovery_cases-case3
3 yrs.
F
DD and microcephaly
Developmental delay, microcephaly, bulbous nose, low set ears, clinodactyly of the hands, pes planovalgus.
184309621
189916445
5606825
GRCh38
Deletion
No
szatmari_07_ASD_discovery_cases-NAAR047-F7-01C08499
NA
ASD
NA
NA
184512697
188013697
3501001
GRCh38
Duplication
Yes
szatmari_07_ASD_discovery_cases-NAAR047-F8-01C08500
NA
ASD
NA
NA
184512697
188013697
3501001
GRCh38
Duplication
Yes
szatmari_07_ASD_discovery_cases-NAAR047-F9-01C08501
NA
ASD
NA
NA
184512697
188013697
3501001
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
battaglia_13_DD/ID/ASD_discovery_cases-case30
FISH or qPCR
De novo
Unknown
Unknown
RN7SL28P,MYL12BP2,SLED1,MIR3945HG,MIR3945,LINC01093,MIR4455,HELT,SLC25A4,ANKRD37,RNU4-64P,RPSAP70,ORAOV1P1,FLJ38576,SLC25A5P6,RNU6-1055P,MRPS36P2,LINC02514,LINC02515,ADAM20P3,ZFP42,RNU6-173P,TRIML1,LINC02434,ICE2P1,RNU7-192P,LINC02508,HSP90AA4P,RNU1-51P,LINC01596,LINC02363,LINC02362,LINC02427,LINC02365,CASP3,CENPU,LINC02437,LRP2BP,UFSP2,C4orf47,PDLIM3,TLR3,CYP4V2,F11,MTNR1A,LINC02374,TRIML2,FRG1,ENPP6,IRF2,PRIMPOL,ACSL1,LINC02436,CFAP97,SNX25,CCDC110,FAM149A,KLKB1,F11-AS1,LINC02492,LINC01060,LINC01262,SORBS2,FAT1,FRG1-DT
chien_10_ASD_discovery_cases-patient1
FISH, qPCR
De novo
NA
NA
FAM92A1P2,WWC2-AS2,CLDN24,CDKN2AIP,VTI1BP2,ING2,RNU6-479P,RNU6-335P,RNU6-1053P,RN7SL28P,MYL12BP2,SLED1,MIR3945HG,MIR3945,LINC01093,MIR4455,HELT,SLC25A4,ANKRD37,RNU4-64P,RPSAP70,ORAOV1P1,FLJ38576,SLC25A5P6,RNU6-1055P,MRPS36P2,LINC02514,LINC02515,ADAM20P3,ZFP42,RNU6-173P,TRIML1,LINC02434,ICE2P1,RNU7-192P,LINC02508,HSP90AA4P,DCTD,CLDN22,RWDD4,TRAPPC11,LINC02363,LINC02362,LINC02427,LINC02365,CASP3,CENPU,LINC02437,LRP2BP,UFSP2,C4orf47,PDLIM3,TLR3,CYP4V2,F11,MTNR1A,LINC02374,TRIML2,WWC2,WWC2-AS1,STOX2,ENPP6,IRF2,PRIMPOL,ACSL1,LINC02436,CFAP97,SNX25,CCDC110,FAM149A,KLKB1,F11-AS1,LINC02492,LINC01060,TENM3,SORBS2,FAT1
girirajan_12_ASD/DD/ID_discovery_cases-case40822
FISH, aCGH, or confirmation by inheritance
Maternal
Unknown
Unknown
RNU4-64P,RPSAP70,ORAOV1P1,FLJ38576,SLC25A5P6,RNU6-1055P,MRPS36P2,PDLIM3,TLR3,CYP4V2,F11,MTNR1A,FAM149A,KLKB1,F11-AS1,SORBS2,FAT1
hu_22_ASD_discovery_cases-case18
Unknown
FAT1,F11,PDLIM3,ZFP42,TRIML2,FRG1,HSP90AA4P,TRIML1,F11-AS1,CYP4V2,MRPS36P2,LINC01060,SLC25A5P6,ICE2P1,ADAM20P3,FRG1-DT,MTNR1A,KLKB1,LINC02492,LTO1P1,LINC01262,LINC02515,LINC02514,LINC02374,LINC01596,LINC02434,RPSAP70,LINC02508,TLR3,RNU1-51P,RNU6-173P,RNU7-192P,RNU4-64P,RNU6-1055P,SORBS2,FAM149A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000389
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-479P,RNU6-335P,RNU6-1053P,RN7SL28P,MYL12BP2,SLED1,MIR3945HG,MIR3945,LINC01093,MIR4455,HELT,SLC25A4,ANKRD37,RNU4-64P,RPSAP70,ORAOV1P1,FLJ38576,SLC25A5P6,RNU6-1055P,MRPS36P2,LINC02514,LINC02515,ADAM20P3,ZFP42,RNU6-173P,TRIML1,LINC02434,ICE2P1,RWDD4,TRAPPC11,LINC02363,LINC02362,LINC02427,LINC02365,CASP3,CENPU,LINC02437,LRP2BP,UFSP2,C4orf47,PDLIM3,TLR3,CYP4V2,F11,MTNR1A,LINC02374,TRIML2,STOX2,ENPP6,IRF2,PRIMPOL,ACSL1,LINC02436,CFAP97,SNX25,CCDC110,FAM149A,KLKB1,F11-AS1,LINC02492,LINC01060,SORBS2,FAT1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002290
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
CDKN2AIP,VTI1BP2,ING2,RNU6-479P,RNU6-335P,RNU6-1053P,RN7SL28P,MYL12BP2,SLED1,MIR3945HG,MIR3945,LINC01093,MIR4455,HELT,SLC25A4,ANKRD37,RNU4-64P,RPSAP70,ORAOV1P1,FLJ38576,SLC25A5P6,RNU6-1055P,MRPS36P2,LINC02514,LINC02515,ADAM20P3,ZFP42,RNU6-173P,TRIML1,LINC02434,ICE2P1,RNU7-192P,LINC02508,HSP90AA4P,RNU1-51P,LINC01596,MLLT10P2,TUBB7P,RNA5SP174,RNA5SP175,FRG2,AGGF1P1,RWDD4,TRAPPC11,LINC02363,LINC02362,LINC02427,LINC02365,CASP3,CENPU,LINC02437,LRP2BP,UFSP2,C4orf47,PDLIM3,TLR3,CYP4V2,F11,MTNR1A,LINC02374,TRIML2,FRG1,DUX4L9,RARRES2P4,STOX2,ENPP6,IRF2,PRIMPOL,ACSL1,LINC02436,CFAP97,SNX25,CCDC110,FAM149A,KLKB1,F11-AS1,LINC02492,LINC01060,LINC01262,SORBS2,FAT1,FRG1-DT
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004045
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SKP13,CCNHP1,MIR1305,RNU2-34P,RN7SKP67,FAM92A1P2,WWC2-AS2,CLDN24,CDKN2AIP,VTI1BP2,ING2,RNU6-479P,RNU6-335P,RNU6-1053P,RN7SL28P,MYL12BP2,SLED1,MIR3945HG,MIR3945,LINC01093,MIR4455,HELT,SLC25A4,ANKRD37,RNU4-64P,RPSAP70,ORAOV1P1,FLJ38576,SLC25A5P6,RNU6-1055P,MRPS36P2,LINC02514,LINC02515,ADAM20P3,ZFP42,RNU6-173P,TRIML1,LINC02434,ICE2P1,RNU7-192P,LINC02508,HSP90AA4P,RNU1-51P,LINC01596,MLLT10P2,TEMN3-AS1,DCTD,CLDN22,RWDD4,TRAPPC11,LINC02363,LINC02362,LINC02427,LINC02365,CASP3,CENPU,LINC02437,LRP2BP,UFSP2,C4orf47,PDLIM3,TLR3,CYP4V2,F11,MTNR1A,LINC02374,TRIML2,FRG1,WWC2,WWC2-AS1,STOX2,ENPP6,IRF2,PRIMPOL,ACSL1,LINC02436,CFAP97,SNX25,CCDC110,FAM149A,KLKB1,F11-AS1,LINC02492,LINC01060,LINC01262,TENM3,SORBS2,FAT1,FRG1-DT
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004444
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ANKRD37,RNU4-64P,RPSAP70,ORAOV1P1,FLJ38576,SLC25A5P6,RNU6-1055P,MRPS36P2,LINC02514,LINC02515,ADAM20P3,ZFP42,RNU6-173P,TRIML1,LINC02434,ICE2P1,RNU7-192P,LINC02508,HSP90AA4P,RNU1-51P,LRP2BP,UFSP2,C4orf47,PDLIM3,TLR3,CYP4V2,F11,MTNR1A,LINC02374,TRIML2,SNX25,CCDC110,FAM149A,KLKB1,F11-AS1,LINC02492,LINC01060,LINC01262,SORBS2,FAT1,FRG1-DT
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004652
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU4-64P,RPSAP70,ORAOV1P1,FLJ38576,SLC25A5P6,RNU6-1055P,TLR3,CYP4V2,F11,MTNR1A,FAM149A,KLKB1,F11-AS1,SORBS2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005267
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SLC25A4,ANKRD37,RNU4-64P,RPSAP70,ORAOV1P1,FLJ38576,SLC25A5P6,RNU6-1055P,MRPS36P2,LINC02514,LINC02515,ADAM20P3,ZFP42,RNU6-173P,TRIML1,LINC02434,ICE2P1,RNU7-192P,LINC02508,HSP90AA4P,RNU1-51P,LRP2BP,UFSP2,C4orf47,PDLIM3,TLR3,CYP4V2,F11,MTNR1A,LINC02374,TRIML2,LINC02436,CFAP97,SNX25,CCDC110,FAM149A,KLKB1,F11-AS1,LINC02492,LINC01060,LINC01262,SORBS2,FAT1,FRG1-DT
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005316
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RNU4-64P,RPSAP70,ORAOV1P1,FLJ38576,SLC25A5P6,RNU6-1055P,MRPS36P2,PDLIM3,TLR3,CYP4V2,F11,MTNR1A,FAM149A,KLKB1,F11-AS1,SORBS2,FAT1
kushima_18_ASD_discovery_cases-caseASD0082
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Not simplex
Unknown
ANKRD37,RNU4-64P,RPSAP70,ORAOV1P1,FLJ38576,SLC25A5P6,RNU6-1055P,MRPS36P2,LINC02514,LINC02515,ADAM20P3,ZFP42,RNU6-173P,TRIML1,LINC02434,ICE2P1,LRP2BP,UFSP2,C4orf47,PDLIM3,TLR3,CYP4V2,F11,MTNR1A,LINC02374,TRIML2,SNX25,CCDC110,FAM149A,KLKB1,F11-AS1,LINC02492,LINC01060,SORBS2,FAT1
kushima_22_ASD_discovery_cases-caseASD0082
qRT-PCR
Unknown
FAT1,F11,PDLIM3,UFSP2,LRP2BP,SNX25,ZFP42,TRIML2,CCDC110,TRIML1,F11-AS1,CYP4V2,ANKRD37,MRPS36P2,LINC01060,C4orf47,SLC25A5P6,ICE2P1,ADAM20P3,MTNR1A,KLKB1,LINC02492,LTO1P1,LINC02515,LINC02514,LINC02374,LINC02434,RPSAP70,TLR3,RNU6-173P,RNU4-64P,RNU6-1055P,SORBS2,FAM149A
maini_18_ASD/DD/ID_discovery_cases-case_unknown169
Unknown
Unknown
Unknown
RNU4-64P,RPSAP70,ORAOV1P1,FLJ38576,SLC25A5P6,RNU6-1055P,MRPS36P2,TLR3,CYP4V2,F11,MTNR1A,FAM149A,KLKB1,F11-AS1,SORBS2,FAT1
prasad_12_ASD_discovery_cases-case58472L
Unknown
Unknown
Unknown
TLR3,CYP4V2,FAM149A
sanders_11_ASD_discovery_cases-11025.p1
Paternal
Simplex (trio)
NA
RNU4-64P,RPSAP70,ORAOV1P1,FLJ38576,TLR3,CYP4V2,FAM149A,KLKB1
shin_15_ASD/DD/ID_discovery_cases-case3
Unknown
Unknown
SLED1,MIR3945HG,MIR3945,LINC01093,MIR4455,HELT,SLC25A4,ANKRD37,RNU4-64P,RPSAP70,ORAOV1P1,FLJ38576,SLC25A5P6,RNU6-1055P,MRPS36P2,LINC02514,LINC02515,ADAM20P3,ZFP42,RNU6-173P,TRIML1,LINC02434,ICE2P1,RNU7-192P,LINC02508,HSP90AA4P,RNU1-51P,LINC01596,LINC02363,LINC02362,LINC02427,LINC02365,CASP3,CENPU,LINC02437,LRP2BP,UFSP2,C4orf47,PDLIM3,TLR3,CYP4V2,F11,MTNR1A,LINC02374,TRIML2,IRF2,PRIMPOL,ACSL1,LINC02436,CFAP97,SNX25,CCDC110,FAM149A,KLKB1,F11-AS1,LINC02492,LINC01060,LINC01262,SORBS2,FAT1,FRG1-DT
szatmari_07_ASD_discovery_cases-NAAR047-F7-01C08499
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
SLED1,MIR3945HG,MIR3945,LINC01093,MIR4455,HELT,SLC25A4,ANKRD37,RNU4-64P,RPSAP70,ORAOV1P1,FLJ38576,SLC25A5P6,RNU6-1055P,MRPS36P2,LINC02514,LINC02515,ADAM20P3,ZFP42,LINC02427,LINC02365,CASP3,CENPU,LINC02437,LRP2BP,UFSP2,C4orf47,PDLIM3,TLR3,CYP4V2,F11,MTNR1A,LINC02374,PRIMPOL,ACSL1,LINC02436,CFAP97,SNX25,CCDC110,FAM149A,KLKB1,F11-AS1,LINC02492,SORBS2,FAT1
szatmari_07_ASD_discovery_cases-NAAR047-F8-01C08500
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
SLED1,MIR3945HG,MIR3945,LINC01093,MIR4455,HELT,SLC25A4,ANKRD37,RNU4-64P,RPSAP70,ORAOV1P1,FLJ38576,SLC25A5P6,RNU6-1055P,MRPS36P2,LINC02514,LINC02515,ADAM20P3,ZFP42,LINC02427,LINC02365,CASP3,CENPU,LINC02437,LRP2BP,UFSP2,C4orf47,PDLIM3,TLR3,CYP4V2,F11,MTNR1A,LINC02374,PRIMPOL,ACSL1,LINC02436,CFAP97,SNX25,CCDC110,FAM149A,KLKB1,F11-AS1,LINC02492,SORBS2,FAT1
szatmari_07_ASD_discovery_cases-NAAR047-F9-01C08501
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
SLED1,MIR3945HG,MIR3945,LINC01093,MIR4455,HELT,SLC25A4,ANKRD37,RNU4-64P,RPSAP70,ORAOV1P1,FLJ38576,SLC25A5P6,RNU6-1055P,MRPS36P2,LINC02514,LINC02515,ADAM20P3,ZFP42,LINC02427,LINC02365,CASP3,CENPU,LINC02437,LRP2BP,UFSP2,C4orf47,PDLIM3,TLR3,CYP4V2,F11,MTNR1A,LINC02374,PRIMPOL,ACSL1,LINC02436,CFAP97,SNX25,CCDC110,FAM149A,KLKB1,F11-AS1,LINC02492,SORBS2,FAT1
Controls
No Control Data Available
No Animal Model Data Available