19p13.3-p13.2CNV Type: Deletion-Duplication
Largest CNV size: 209271 bp
Statistics Box:
Number of Reports: 10
Number of Reports: 10
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
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
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
209270
0
10
10
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
7261697
0
1
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
8318101
0
3
3
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
193264
0
3
3
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
193284
0
4
4
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
128245
0
1
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
209271
0
2
2
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
193268
0
1
1
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
203246
0
2
2
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
209270
1
4
5
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
216683
0
18
18
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
187347
0
5
5
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
193284
0
4
4
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
0
0
0
0
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
196140
0
2
2
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
209270
0
5
5
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
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
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
qPCR
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
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
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
engchuan_15_ASD_discovery_cases-case14191_3150
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6895855
7105125
209271
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case16030_1571003001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6895855
7105125
209271
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case1763_311
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6895855
7105125
209271
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case1950_301
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6895855
7105125
209271
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3072_8
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6895855
7105125
209271
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4425_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6895855
7105125
209271
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5451_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6895855
7105125
209271
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5541_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6905884
7097478
191595
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8197_202
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6895855
7105125
209271
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8451_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6895855
6969846
73992
GRCh38
Duplication
No
han_22_ASD/DD/ID_discovery_cases-case17D823
2 yrs. 2 mos.
F
Developmental delay
1246609
8508305
7261697
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001603
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
1972245
9648879
7676635
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004291
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
265917
8564134
8298218
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004487
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
4039158
9176125
5136968
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case12626.p1
N/A
M
ASD
ASD proband from SSC quad family 12626. SRS score of 87.
Full-scale IQ (FSIQ) score of 92.
6896397
6991132
94736
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case12780.p1
N/A
M
ASD
ASD proband from SSC quad family 12780. SRS score of 79.
Full-scale IQ (FSIQ) score of 115.
6890480
7083744
193265
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case13504.p1
N/A
M
ASD
ASD proband from SSC quad family 13504. SRS score of 77.
Full-scale IQ (FSIQ) score of 64.
6897148
6989162
92015
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11721.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
6890462
7083746
193285
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12626.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
6890462
7083746
193285
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12780.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
6890480
7083744
193265
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13504.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
6897148
6989162
92015
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-11721.p1
NA
M
ASD
NA
NA
6891394
7019638
128245
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case1763_311
NA
M
ASD
NA
NA
6895855
7105125
209271
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case1950_301
NA
M
Autism
Non verbal, poor suck at birth, no epilepsy
No IQ available (untestable by Raven)
6895855
7105125
209271
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case05HI3851A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1396304; NDAR ID NDAR_INVFB990VC9)
6890479
7083746
193268
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1516-2A
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
Developmental delay: unknown. Intellectual disability: no.
6940380
6972846
32467
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-264a1
N/A
N/A
CBLH-PMG
Diagnosis of cerebellar hypoplasia (CBLH) and polymicrogyria (PMG).
6901880
7105125
203246
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11179.p1
13.3
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 65; verbal IQ, 41
6943399
7063361
119963
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11721.p1
4.8
M
ASD
NA
Full-scale IQ, 99; non-verbal IQ, 98; verbal IQ, 101
6895855
7105125
209271
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12626.p1
16.3
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 111; verbal IQ, 76
6901880
7090211
188332
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12780.p1
7.8
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 110; verbal IQ, 121
6895855
7105125
209271
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13067.p1
5
M
Autism
NA
Full-scale IQ, 93; non-verbal IQ, 99; verbal IQ, 88
6887725
7090211
202487
GRCh38
Duplication
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-control110036019446_
N/A
N/A
Control
No previous psychiatric history
6886848
7103531
216684
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB259917_1007874661
N/A
N/A
Control
No previous psychiatric history
6896472
7105125
208654
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB266451_1007854349
N/A
N/A
Control
No previous psychiatric history
6895855
7103531
207677
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB269904_1007853875
N/A
N/A
Control
No previous psychiatric history
6801470
6984697
183228
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB579510_1007848497
N/A
N/A
Control
No previous psychiatric history
6895855
7018858
123004
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB931866_1007873677
N/A
N/A
Control
No previous psychiatric history
6895855
7018858
123004
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB969719_1007842424
N/A
N/A
Control
No previous psychiatric history
6895855
7105125
209271
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900226_900226
N/A
N/A
Control
No previous psychiatric history
6895855
7097478
201624
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900293_900293
N/A
N/A
Control
No previous psychiatric history
6895855
7103531
207677
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900785_900785
N/A
N/A
Control
No previous psychiatric history
6896472
7105125
208654
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901019_901019
N/A
N/A
Control
No previous psychiatric history
6896369
7105125
208757
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901056_901056
N/A
N/A
Control
No previous psychiatric history
6895855
7105125
209271
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901112_901112
N/A
N/A
Control
No previous psychiatric history
6901880
7105125
203246
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902453_902453
N/A
N/A
Control
No previous psychiatric history
6901880
7103531
201652
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902474_902474
N/A
N/A
Control
No previous psychiatric history
6895855
7090211
194357
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902527_902527
N/A
N/A
Control
No previous psychiatric history
6896369
7103531
207163
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902561_902561
N/A
N/A
Control
No previous psychiatric history
6896369
7103531
207163
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902566_902566
N/A
N/A
Control
No previous psychiatric history
6895855
7103531
207677
GRCh38
Duplication
No
krumm_13_ASD_discovery_controls-control11364.s1
N/A
F
Control
Unaffected sibling from SSC quad family 11364. SRS score of 40.
6896397
7083744
187348
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control12462.s1
N/A
F
Control
Unaffected sibling from SSC quad family 12462. SRS score of 36.
6896397
7083744
187348
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control12626.s1
N/A
F
Control
Unaffected sibling from SSC quad family 12626. SRS score of 45.
6890480
6991132
100653
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control12780.s1
N/A
M
Control
Unaffected sibling from SSC quad family 12780. SRS score of 49.
6890480
6991132
100653
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control13504.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13504. SRS score of 43.
6896397
7083744
187348
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control11364.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
6896397
6991132
94736
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12462.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
6896397
7083744
187348
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12626.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
6890462
7083746
193285
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12780.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
6890480
7083744
193265
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_controls-control04C27774A
N/A
F
Control
NIMH Control (NIMH ID 62995)
6890479
7083746
193268
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C39242A
N/A
F
Control
NIMH Control (NIMH ID 32194)
6887607
7083746
196140
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11364.s1
8.8
F
Control (matched sibling)
NA
NA
6895855
7105125
209271
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12331.s1
9.6
F
Control (matched sibling)
NA
NA
6895855
7105125
209271
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12462.s1
20.8
F
Control (matched sibling)
NA
NA
6898670
7090211
191542
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12626.s1
16.3
F
Control (matched sibling)
NA
NA
6901880
7105125
203246
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12780.s1
5.9
M
Control (matched sibling)
NA
NA
6901880
7105125
203246
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_cases-case14191_3150
Unknown
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
engchuan_15_ASD_discovery_cases-case16030_1571003001
Unknown
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
engchuan_15_ASD_discovery_cases-case1763_311
Unknown
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
engchuan_15_ASD_discovery_cases-case1950_301
Unknown
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
engchuan_15_ASD_discovery_cases-case3072_8
Unknown
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
engchuan_15_ASD_discovery_cases-case4425_1
Unknown
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
engchuan_15_ASD_discovery_cases-case5451_3
Unknown
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
engchuan_15_ASD_discovery_cases-case5541_3
Unknown
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
engchuan_15_ASD_discovery_cases-case8197_202
Unknown
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
engchuan_15_ASD_discovery_cases-case8451_201
Unknown
ADGRE1,ADGRE4P
han_22_ASD/DD/ID_discovery_cases-case17D823
De novo
TLE5,CAPS,CD70,AMH,CIRBP,C3,DAPK3,FCER2,CSNK1G2,EFNA2,ADGRE1,EEF2,ELAVL1,TIMM13,DAZAP1,TJP3,NMRK2,SNORD37,MARCHF2,PIAS4,FZR1,ANGPTL4,CD320,SLC39A3,MBD3,UHRF1,ZBTB7A,CD209,SIRT6,LSM7,FEM1A,PCSK4,PLEKHJ1,BTBD2,YJU2,FAM174C,STAP2,REXO1,MYDGF,SPPL2B,NCLN,ZNF77,SHD,XAB2,CACTIN,RETN,DUS3L,CAMSAP3,GPR108,MCOLN1,FSD1,CELF5,SLC25A23,ZNF557,TLE6,CERS4,UBXN6,DOT1L,ACSBG2,DENND1C,PRAM1,KLF16,PRR36,ALKBH7,ABHD17A,ZNF556,DOHH,LRRC8E,SCAMP4,CREB3L3,FBN3,CRB3,REEP6,IZUMO4,DPP9,MIDN,MPND,ATCAY,PEX11G,ADAT3,RAX2,HDGFL2,LMNB2,PWWP3A,NDUFA11,MBD3L2,MOB3A,ZNF57,MRPL54,MICOS13,TNFAIP8L1,ACER1,GIPC3,PLK5,ZNF554,MFSD12,PCP2,TMIGD2,JSRP1,EVI5L,LRG1,TRAPPC5,TICAM1,CIRBP-AS1,ZNF555,C19orf25,ZNRF4,DIRAS1,ATP8B3,ZNF358,ANKRD24,MCEMP1,PRR22,FUT6,INSR,GNA11,GTF2F1,FUT3,MKNK2,GNA15,FUT5,GAMT,GNG7,MIR7-3HG,SLC25A41,CATSPERD,MBD3L5,TINCR,CSNK1G2-AS1,KANK3,SMIM24,ADAMTSL5,CLEC4G,ADGRE4P,TMPRSS9,NDUFS7,TEX45,PEAK3,LYPLA2P2,HSD11B1L,MEX3D,ONECUT3,VMAC,PLIN5,CLEC4GP1,CACTIN-AS1,CTXN1,RPS15P9,MIR7-3,ARRDC5,LINGO3,MIR637,MBD3L3,MBD3L4,MBD3L2B,RPL7P50,PLIN4,RANBP3-DT,CLIC4P2,C19orf71,SNRPEP4,MATK,OAZ1,MLLT1,NFIC,NDUFA7,GADD45B,NRTN,HNRNPM,PET100,DPP9-AS1,FTLP5,RPL32P34,EXOSC3P2,RPL21P129,ELOCP28,MIR1227,MIR1909,MIR3940,MIR4321,MIR4746,TGFBR3L,RAB11B-AS1,MIR4747,MIR4999,GNA15-DT,PSPN,RFX2,MAP2K7,RPS28,SAFB,RPS15,PTPRS,MAP2K2,LINC01775,MIR7108,MIR6789,MIR7850,MIR6791,MIR6792,MIR6885,MIR6790,RN7SL202P,RN7SL477P,RN7SL121P,STXBP2,CCL25,SH3GL1,SGTA,TCF3,VAV1,SNAPC2,THOP1,TLE2,TBXA2R,RNU6-993P,EIF1P6,RNU6-1223P,RPS27AP19,TNFSF14,SF3A2,AP3D1,CLPP,RANBP3,S1PR4,KHSRP,TNFSF9,ARHGEF18-AS1,TRIP10,SH2D3A,RAB11B,CHAF1A,SAFB2,APBA3,EBI3,PLIN3,LONP1,SEMA6B,HMG20B,PNPLA6,TUBB4A,APC2,CLEC4M,TIMM44,UQCR11,ARHGEF18,PIP5K1C,ZFR2,KDM4B,RPL36
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001603
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PLEKHJ1,MIR1227,MIR6789,AMH,MIR4321,OAZ1,LINGO3,TIMM13,MIR7108,LINC01775,GADD45B,RNU6-993P,ELOCP28,RN7SL121P,MIR7850,ZNF556,ZNF77,AES,SMIM24,DOHH,C19orf71,HMG20B,CACTIN-AS1,RAX2,FTLP5,RN7SL202P,NMRK2,MIR637,SNORD37,EBI3,SHD,EIF1P6,MIR4746,PLIN5,MIR7-3HG,MIR7-3,MIR4747,RPL32P34,SNRPEP4,DUS3L,NRTN,FUT5,VMAC,CLPP,PSPN,MIR6885,MIR6790,MIR3940,SLC25A41,CRB3,TUBB4A,TNFSF9,CLIC4P2,RPL7P50,MIR6791,FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,MCOLN1,MIR6792,XAB2,PET100,PCP2,STXBP2,RPS27AP19,RETN,MCEMP1,CD209,RPL21P129,CLEC4GP1,EXOSC3P2,PRR36,LYPLA2P2,RNA5SP463,TGFBR3L,SNAPC2,CTXN1,NDUFA7,MIR4999,RAB11B,PRAM1,ZNF414,ACTL9,OR2Z1,RPL23AP78,MBD3L1,BOLA3P2,OR1M4P,OR7G2,OR7G1,OR7G15P,OR7G3,OR7D2,ELOCP29,OR7D4,OR7D1P,OR7E24,OR7E18P,OR7E19P,OR7H1P,ZNF426-DT,BTBD2,MKNK2,MOB3A,AP3D1,SF3A2,JSRP1,PEAK3,LSM7,SPPL2B,TMPRSS9,LMNB2,DIRAS1,SLC39A3,SGTA,THOP1,ZNF554,ZNF555,ZNF57,TLE6,GNA11,S1PR4,NCLN,FZR1,GIPC3,TBXA2R,CACTIN,TJP3,APBA3,MRPL54,ZFR2,ATCAY,DAPK3,EEF2,PIAS4,MAP2K2,CREB3L3,SIRT6,YJU2,TMIGD2,FSD1,MPND,SH3GL1,CHAF1A,HDGFL2,PLIN4,LRG1,SEMA6B,TNFAIP8L1,MYDGF,DPP9-AS1,FEM1A,TICAM1,ARRDC5,UHRF1,ZNRF4,TINCR,SAFB2,RPL36,HSD11B1L,LONP1,PRR22,FUT6,FUT3,CAPS,RANBP3,MLLT1,ACER1,ALKBH7,GTF2F1,SLC25A23,DENND1C,CD70,TNFSF14,GPR108,TRIP10,SH2D3A,ADGRE1,ADGRE4P,PEX11G,TEX45,ZNF358,PNPLA6,TRAPPC5,FCER2,CLEC4M,LRRC8E,MAP2K7,TIMM44,CCL25,CD320,RPS28,KANK3,ANGPTL4,MARCH2,HNRNPM,MYO1F,ADAMTS10,LINC01862,ZNF558,OR1M1,ZNF317,OR7E16P,OR7E25P,ZNF559,ZNF559-ZNF177,ZNF177,ZNF266,ZNF560,ZNF426,ZNF561,ZNF561-AS1,ZNF562,CSNK1G2,DOT1L,GNG7,TLE2,CELF5,NFIC,MFSD12,PIP5K1C,MATK,ZBTB7A,STAP2,UBXN6,DPP9,PLIN3,KDM4B,SAFB,CATSPERD,NDUFA11,RFX2,ACSBG2,KHSRP,C3,VAV1,ZNF557,INSR,ARHGEF18,CAMSAP3,CLEC4G,EVI5L,ELAVL1,FBN3,CERS4,MUC16,ZNF699,ZNF121,IZUMO4,GNA15,ANKRD24,PTPRS,RAB11B-AS1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004291
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PLPP2,THEG,C2CD4C,RNA5SP462,ODF3L2,GZMM,FGF22,FSTL3,RPS2P52,LINC01836,MIR4745,MIR3187,AZU1,PRTN3,CFD,RNU6-9,WDR18,GRIN3B,RNU6-2,POLR2E,GPX4,HMGB2P1,ATP5F1D,MIDN,CIRBP-AS1,RPS15P9,GAMT,RPS15,PCSK4,PLK5,RN7SL477P,UQCR11,RNU6-1223P,MIR1909,KLF16,ADAT3,CSNK1G2-AS1,PLEKHJ1,MIR1227,MIR6789,AMH,MIR4321,OAZ1,LINGO3,TIMM13,MIR7108,LINC01775,GADD45B,RNU6-993P,ELOCP28,RN7SL121P,MIR7850,ZNF556,ZNF77,AES,SMIM24,DOHH,C19orf71,HMG20B,CACTIN-AS1,RAX2,FTLP5,RN7SL202P,NMRK2,MIR637,SNORD37,EBI3,SHD,EIF1P6,MIR4746,PLIN5,MIR7-3HG,MIR7-3,MIR4747,RPL32P34,SNRPEP4,DUS3L,NRTN,FUT5,VMAC,CLPP,PSPN,MIR6885,MIR6790,MIR3940,SLC25A41,CRB3,TUBB4A,TNFSF9,CLIC4P2,RPL7P50,MIR6791,FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,MCOLN1,MIR6792,XAB2,PET100,PCP2,STXBP2,RPS27AP19,RETN,MCEMP1,CD209,RPL21P129,CLEC4GP1,EXOSC3P2,PRR36,LYPLA2P2,RNA5SP463,TGFBR3L,SNAPC2,CTXN1,NDUFA7,MIR4999,RAB11B,PRAM1,ZNF414,MIER2,SHC2,MADCAM1,TPGS1,CDC34,BSG,HCN2,POLRMT,PRSS57,PALM,MISP,PTBP1,PLPPR3,ELANE,MED16,R3HDM4,ARID3A,TMEM259,CNN2,ARHGAP45,SBNO2,CBARP,CIRBP,C19orf24,EFNA2,NDUFS7,DAZAP1,APC2,C19orf25,REEP6,ADAMTSL5,MEX3D,MBD3,TCF3,ONECUT3,ATP8B3,ABHD17A,SCAMP4,BTBD2,MKNK2,MOB3A,AP3D1,SF3A2,JSRP1,PEAK3,LSM7,SPPL2B,TMPRSS9,LMNB2,DIRAS1,SLC39A3,SGTA,THOP1,ZNF554,ZNF555,ZNF57,TLE6,GNA11,S1PR4,NCLN,FZR1,GIPC3,TBXA2R,CACTIN,TJP3,APBA3,MRPL54,ZFR2,ATCAY,DAPK3,EEF2,PIAS4,MAP2K2,CREB3L3,SIRT6,YJU2,TMIGD2,FSD1,MPND,SH3GL1,CHAF1A,HDGFL2,PLIN4,LRG1,SEMA6B,TNFAIP8L1,MYDGF,DPP9-AS1,FEM1A,TICAM1,ARRDC5,UHRF1,ZNRF4,TINCR,SAFB2,RPL36,HSD11B1L,LONP1,PRR22,FUT6,FUT3,CAPS,RANBP3,MLLT1,ACER1,ALKBH7,GTF2F1,SLC25A23,DENND1C,CD70,TNFSF14,GPR108,TRIP10,SH2D3A,ADGRE1,ADGRE4P,PEX11G,TEX45,ZNF358,PNPLA6,TRAPPC5,FCER2,CLEC4M,LRRC8E,MAP2K7,TIMM44,CCL25,CD320,RPS28,KANK3,ANGPTL4,MARCH2,HNRNPM,MYO1F,RNF126,KISS1R,STK11,REXO1,CSNK1G2,DOT1L,GNG7,TLE2,CELF5,NFIC,MFSD12,PIP5K1C,MATK,ZBTB7A,STAP2,UBXN6,DPP9,PLIN3,KDM4B,SAFB,CATSPERD,NDUFA11,RFX2,ACSBG2,KHSRP,C3,VAV1,ZNF557,INSR,ARHGEF18,CAMSAP3,CLEC4G,EVI5L,ELAVL1,FBN3,CERS4,ABCA7,IZUMO4,GNA15,ANKRD24,PTPRS,RAB11B-AS1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004487
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
EBI3,SHD,EIF1P6,MIR4746,PLIN5,MIR7-3HG,MIR7-3,MIR4747,RPL32P34,SNRPEP4,DUS3L,NRTN,FUT5,VMAC,CLPP,PSPN,MIR6885,MIR6790,MIR3940,SLC25A41,CRB3,TUBB4A,TNFSF9,CLIC4P2,RPL7P50,MIR6791,FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,MCOLN1,MIR6792,XAB2,PET100,PCP2,STXBP2,RPS27AP19,RETN,MCEMP1,CD209,RPL21P129,CLEC4GP1,EXOSC3P2,PRR36,LYPLA2P2,RNA5SP463,TGFBR3L,SNAPC2,CTXN1,NDUFA7,MIR4999,RAB11B,PRAM1,ZNF414,ACTL9,OR2Z1,RPL23AP78,MBD3L1,BOLA3P2,OR1M4P,OR7G2,OR7G1,OR7G15P,OR7G3,PIAS4,MAP2K2,CREB3L3,SIRT6,YJU2,TMIGD2,FSD1,MPND,SH3GL1,CHAF1A,HDGFL2,PLIN4,LRG1,SEMA6B,TNFAIP8L1,MYDGF,DPP9-AS1,FEM1A,TICAM1,ARRDC5,UHRF1,ZNRF4,TINCR,SAFB2,RPL36,HSD11B1L,LONP1,PRR22,FUT6,FUT3,CAPS,RANBP3,MLLT1,ACER1,ALKBH7,GTF2F1,SLC25A23,DENND1C,CD70,TNFSF14,GPR108,TRIP10,SH2D3A,ADGRE1,ADGRE4P,PEX11G,TEX45,ZNF358,PNPLA6,TRAPPC5,FCER2,CLEC4M,LRRC8E,MAP2K7,TIMM44,CCL25,CD320,RPS28,KANK3,ANGPTL4,MARCH2,HNRNPM,MYO1F,ADAMTS10,LINC01862,ZNF558,OR1M1,ZNF317,ZBTB7A,STAP2,UBXN6,DPP9,PLIN3,KDM4B,SAFB,CATSPERD,NDUFA11,RFX2,ACSBG2,KHSRP,C3,VAV1,ZNF557,INSR,ARHGEF18,CAMSAP3,CLEC4G,EVI5L,ELAVL1,FBN3,CERS4,MUC16,ANKRD24,PTPRS,RAB11B-AS1
krumm_13_ASD_discovery_cases-case12626.p1
Paternal
Simplex
Not segregated
ADGRE1,ADGRE4P
krumm_13_ASD_discovery_cases-case12780.p1
Paternal
Simplex
Not segregated
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
krumm_13_ASD_discovery_cases-case13504.p1
Paternal
Simplex
Not segregated
ADGRE1,ADGRE4P
krumm_15_ASD_discovery_cases-case11721.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
krumm_15_ASD_discovery_cases-case12626.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
krumm_15_ASD_discovery_cases-case12780.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
krumm_15_ASD_discovery_cases-case13504.p1
1M-Duov3
Paternal
Simplex
Segregated
ADGRE1,ADGRE4P
levy_11_ASD_discovery_cases-11721.p1
Maternal
Simplex
Segregated
FLJ25758,MBD3L2B,ADGRE1,ADGRE4P
pinto_10_ASD_discovery_cases-case1763_311
Illumina550
paternal
NA
NA
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
pinto_10_ASD_discovery_cases-case1950_301
Illumina550
paternal
NA
NA
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
poultney_13_ASD_discovery_cases-case05HI3851A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
sajan_13_ACC/CBLH/PMG_discovery_cases-case1516-2A
Not tested by qPCR
Unknown
Unknown
Unknown
ADGRE1,ADGRE4P
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-264a1
qPCR
Maternal
Unknown
Unknown
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
sanders_11_ASD_discovery_cases-11179.p1
Paternal
Simplex (quad-proband matched)
Segregated
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE4P
sanders_11_ASD_discovery_cases-11721.p1
Maternal
Simplex (quad-proband matched)
Segregated
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
sanders_11_ASD_discovery_cases-12626.p1
Paternal
Simplex (quad-proband matched)
Not segregated
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
sanders_11_ASD_discovery_cases-12780.p1
Paternal
Simplex (quad-proband matched)
Not segregated
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
sanders_11_ASD_discovery_cases-13067.p1
Maternal
Simplex (trio)
NA
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036019446_
Unknown
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
engchuan_15_ASD_discovery_controls-controlB259917_1007874661
Unknown
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
engchuan_15_ASD_discovery_controls-controlB266451_1007854349
Unknown
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
engchuan_15_ASD_discovery_controls-controlB269904_1007853875
Unknown
ADGRE1,ADGRE4P,VAV1
engchuan_15_ASD_discovery_controls-controlB579510_1007848497
Unknown
FLJ25758,ADGRE1,ADGRE4P
engchuan_15_ASD_discovery_controls-controlB931866_1007873677
Unknown
FLJ25758,ADGRE1,ADGRE4P
engchuan_15_ASD_discovery_controls-controlB969719_1007842424
Unknown
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
engchuan_15_ASD_discovery_controls-controlHABC_900226_900226
Unknown
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
engchuan_15_ASD_discovery_controls-controlHABC_900293_900293
Unknown
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
engchuan_15_ASD_discovery_controls-controlHABC_900785_900785
Unknown
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
engchuan_15_ASD_discovery_controls-controlHABC_901019_901019
Unknown
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
engchuan_15_ASD_discovery_controls-controlHABC_901056_901056
Unknown
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
engchuan_15_ASD_discovery_controls-controlHABC_901112_901112
Unknown
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
engchuan_15_ASD_discovery_controls-controlHABC_902453_902453
Unknown
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
engchuan_15_ASD_discovery_controls-controlHABC_902474_902474
Unknown
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
engchuan_15_ASD_discovery_controls-controlHABC_902527_902527
Unknown
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
engchuan_15_ASD_discovery_controls-controlHABC_902561_902561
Unknown
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
engchuan_15_ASD_discovery_controls-controlHABC_902566_902566
Unknown
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
krumm_13_ASD_discovery_controls-control11364.s1
Paternal
Simplex
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
krumm_13_ASD_discovery_controls-control12462.s1
Maternal
Simplex
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
krumm_13_ASD_discovery_controls-control12626.s1
Paternal
Simplex
ADGRE1,ADGRE4P
krumm_13_ASD_discovery_controls-control12780.s1
Paternal
Simplex
ADGRE1,ADGRE4P
krumm_13_ASD_discovery_controls-control13504.s1
Paternal
Simplex
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
krumm_15_ASD_discovery_controls-control11364.s1
Illumina 1M
Paternal
ADGRE1,ADGRE4P
krumm_15_ASD_discovery_controls-control12462.s1
Illumina 1MDuo
Maternal
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
krumm_15_ASD_discovery_controls-control12626.s1
Illumina 1MDuo
Paternal
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
krumm_15_ASD_discovery_controls-control12780.s1
Illumina 1MDuo
Paternal
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
poultney_13_ASD_discovery_controls-control04C27774A
Unknown
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
poultney_13_ASD_discovery_controls-control05C39242A
Unknown
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
sanders_11_ASD_discovery_controls-11364.s1
Paternal
Simplex (quad)
NA
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
sanders_11_ASD_discovery_controls-12331.s1
Paternal
Simplex (quad)
NA
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
sanders_11_ASD_discovery_controls-12462.s1
Maternal
Simplex (quad)
NA
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
sanders_11_ASD_discovery_controls-12626.s1
Paternal
Simplex (quad)
NA
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
sanders_11_ASD_discovery_controls-12780.s1
Paternal
Simplex (quad)
NA
FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
No Animal Model Data Available