geno logo
     HELP     Sign In

Quick Links

TOOLS

1p13.3-p13.2CNV Type: Duplication


Largest CNV size: 137668 bp

Statistics Box:
Number of Reports: 2


Summary Information

A maternally-transmitted duplication within this region was identifed in an ASD proband from the Simons Simplex Collection; however, this duplication was also observed in the proband's unaffected sibling (Krumm et al., 2015).

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Excess of rare, inherited truncating mutations in autism.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 137668
 0
 1
 1
 quintela_17_DD/ID_discovery_cases
 Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
 573
 All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
 Range, 3 months-18 years
 60.38% Male
 4494339
 1
 0
 1

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
 138501
 0
 1
 1
 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
 138280
 0
 1
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 138280
 0
 2
 2

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 quintela_17_DD/ID_discovery_cases
  North West Spain
 Array SNP
  Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
 
 Affymetrix ChAS v.1.2.2
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  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)

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  krumm_15_ASD_discovery_cases-case13920.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 111182798
 111320466
  137669
 GRCh38
 Duplication
 Yes
  quintela_17_DD/ID_discovery_cases-caseID_331
 11 yrs.
 M
 Intellectual disability and ADHD
 ADHD, dyslexia, dysmorphic facial features
 Intellectual disability
 109555420
 114049758
  4494339
 GRCh38
 Deletion
 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-controlHABC_900430_900430
  N/A
  N/A
  Control
  No previous psychiatric history
 
  111183404
  111321905
  138502
  GRCh38
  Duplication
  No
  krumm_13_ASD_discovery_controls-control11610.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 11610. SRS score of 60.
 
  111182186
  111320466
  138281
  GRCh38
  Duplication
  No (not tested)
  krumm_15_ASD_discovery_controls-control11610.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  111182186
  111320466
  138281
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13920.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  111182186
  111320466
  138281
  GRCh38
  Duplication
  Yes

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 krumm_15_ASD_discovery_cases-case13920.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 CHIAP1,DENND2D,CHI3L2,CHIA,CHIAP2,CEPT1
 
 quintela_17_DD/ID_discovery_cases-caseID_331
 
 
 Unknown (not maternal)
 
 Unknown
 RNU6V,MIR197,RPL7P8,NDUFA5P10,UBL4B,LINC02586,LAMTOR5,PROK1,CYMP,CYMP-AS1,KCNA10,NRBF2P3,CCNT2P1,RNA5SP54,CHIAP1,PIFO,HIGD1AP12,PGCP1,UBE2FP3,RNU6-792P,ADORA3,KRT18P57,RNU6-151P,INKA2-AS1,KCND3-IT1,KCND3-AS1,LINC01750,TXNP3,MIR4256,MRPL53P1,RNU7-70P,PPM1J,NUTF2P4,AKR7A2P1,RLIMP2,MTND5P20,DCLRE1B,HIPK1-AS1,GNAT2,AMPD2,GSTM4,GSTM5,GSTM3,EPS8L3,CSF1,AHCYL1,STRIP1,ALX3,SLC6A17,RBM15-AS1,RBM15,SLC16A4,KCNA3,OR11I1P,LRIF1,DRAM2,DENND2D,CHI3L2,CHIA,CHIAP3,OVGP1,WDR77,ATP5PB,C1orf162,LINC01160,INKA2,DDX20,WNT2B,CAPZA1,MOV10,RHOC,LINC01356,SLC16A1,PHTF1,PTPN22,AP4B1-AS1,BCL2L15,HIPK1,GNAI3,GSTM2,GSTM1,LINC01768,KCNC4,LAMTOR5-AS1,KCNA2,CD53,CHIAP2,TMIGD3,RAP1A,KCND3,CTTNBP2NL,ST7L,FAM19A3,SLC16A1-AS1,LRIG2,MAGI3,RSBN1,AP4B1,OLFML3,LINC01397,CEPT1
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlHABC_900430_900430
 
 
  Unknown
 
 
  CHIAP1,DENND2D,CHI3L2,CHIA,CHIAP2,CEPT1
 
krumm_13_ASD_discovery_controls-control11610.s1
 
 
  Paternal
  Simplex
 
  CHIAP1,DENND2D,CHI3L2,CHIA,CHIAP2,CEPT1
 
krumm_15_ASD_discovery_controls-control11610.s1
  Illumina 1MDuo
 
  Paternal
 
 
  CHIAP1,DENND2D,CHI3L2,CHIA,CHIAP2,CEPT1
 
krumm_15_ASD_discovery_controls-control13920.s1
  Omni2.5-4v1
 
  Maternal
 
 
  CHIAP1,DENND2D,CHI3L2,CHIA,CHIAP2,CEPT1
 

No Animal Model Data Available
HELP
Copyright © 2017 MindSpec, Inc.