3p21.2CNV Type: Deletion
Largest CNV size: 3152 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
A deletion within this region affecting the ABHD14A gene was identified in a female ASD case from AGRE (Poultney et al., 2013).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
17389
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
608507
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)
3152
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_controls
Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
630
Control
N/A
N/A
17389
1
0
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
63081
0
1
1
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)
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
qPCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_controls
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_discovery_cases-caseSSC11525
N/A
M
ASD
Case from SSC_phase1 cohort
51347212
51364601
17390
GRCh38
Deletion
No
krumm_15_ASD_discovery_cases-case12208.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
51633576
51635789
2214
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12215.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
158460934
159069441
608508
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case98HI0029B
N/A
F
ASD
ASD case from AGRE (AGRE ID AU012104; NDAR ID NDAR_INVNC573ATM)
51977869
51981020
3152
GRCh38
Deletion
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_discovery_controls-controlSSC11537
N/A
M
Control
Control from SSC_phase1 cohort
51347212
51364601
17390
GRCh38
Deletion
No
krumm_15_ASD_discovery_controls-control11172.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
50778666
50841747
63082
GRCh38
Duplication
Yes
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_cases-caseSSC11525
Determined to be false positive after PCR or SNP data validation
Paternal
DOCK3
krumm_15_ASD_discovery_cases-case12208.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
RAD54L2
krumm_15_ASD_discovery_cases-case12215.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
MTAPP1,GPR79,GFM1,LXN,MFSD1,MLF1,RARRES1,IQCJ,RSRC1,IQCJ-SCHIP1
poultney_13_ASD_discovery_cases-case98HI0029B
qPCR
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ABHD14A,ABHD14B,ABHD14A-ACY1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC11537
Determined to be false positive after PCR or SNP data validation
Paternal
DOCK3
krumm_15_ASD_discovery_controls-control11172.s1
Illumina 1M
De novo
ZNF652P1,DOCK3
No Animal Model Data Available