AutismKB

Evidence Detail for ABCC1


View Evidences View Annotations
Basic Information Top
Gene Symbol:ABCC1 ( ABC29,ABCC,DKFZp686N04233,DKFZp781G125,GS-X,MRP,MRP1 )
Gene Full Name: ATP-binding cassette, sub-family C (CFTR/MRP), member 1
Band: 16p13.1
Quick LinksEntrez ID:4363; OMIM: 158343; Uniprot ID:MRP1_HUMAN; ENSEMBL ID: ENSG00000103222
Sequences Top
>ABCC1|4363|nucleotide
Show »

>ABCC1|4363|protein
Show »

Evidence Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) No 1 (1) 0 (0) 2 (7) 1 (1) 0 (1) 0 (0) 11 (3)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 1
Case Control Based Association Studies: 0
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
Genome-Wide Association Studies(By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage #SNPs/ #VNTRs #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Ma, 2009_1 Discovery 1 (detail) 438 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
Other Low Scale Gene Studies Top
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000196 16 16p13.1 gain 2 - Overlapping/Recurrent CNVs; Ullmann, 2007
AutCNV0000430 16 16p12.3-13.11 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000431 16 16p12.3-13.11 Loss 2 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000432 16 16p12.3-13.11 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000742 16 16p13.11 gain 1 - paternal Bremer, 2011
AutCNV0002111 16 16p13.11 gain 1 - paternal Pinto, 2010
AutCNV0002899 16 16p13.11 loss 1 - maternal Pinto, 2010
AutCNV0003842 16 16p13.11 gain 1 - Denovo CNVs; Levy, 2011
AutCNV0004331 16 16p13.11 gain 1 - CNVs Only Present In Patients; Sanders, 2011
AutCNV0004620 16 16p13.11 Gain 3 0 Overlapping/Recurrent CNVs; CNVs Not Present In Control; Bucan, 2009
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000091 16p13 16 D16S2619 - 2.17 - Buxbaum, 2004

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Quick Search:


  (e.g. NLGN4X)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
  • Click to Download Data

Registered with NIF