AutismKB 2.0

Evidence Details for ABCC5


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Basic Information Top
Gene Symbol:ABCC5 ( ABC33,DKFZp686C1782,EST277145,MOAT-C,MOATC,MRP5,SMRP,pABC11 )
Gene Full Name: ATP-binding cassette, sub-family C (CFTR/MRP), member 5
Band: 3q27.1
Quick LinksEntrez ID:10057; OMIM: 605251; Uniprot ID:MRP5_HUMAN; ENSEMBL ID: ENSG00000114770; HGNC ID: 56
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ABCC5|10057|nucleotide
ATGAAGGATATCGACATAGGAAAAGAGTATATCATCCCCAGTCCTGGGTATAGAAGTGTGAGGGAGAGAACCAGCACTTCTGGGACGCACAGAGACCGTGAAGAT
TCCAAGTTCAGGAGAACTCGACCGTTGGAATGCCAAGATGCCTTGGAAACAGCAGCCCGAGCCGAGGGCCTCTCTCTTGATGCCTCCATGCATTCTCAGCTCAGA
ATCCTGGATGAGGAGCATCCCAAGGGAAAGTACCATCATGGCTTGAGTGCTCTGAAGCCCATCCGGACTACTTCCAAACACCAGCACCCAGTGGACAATGCTGGG
CTTTTTTCCTGTATGACTTTTTCGTGGCTTTCTTCTCTGGCCCGTGTGGCCCACAAGAAGGGGGAGCTCTCAATGGAAGACGTGTGGTCTCTGTCCAAGCACGAG
TCTTCTGACGTGAACTGCAGAAGACTAGAGAGACTGTGGCAAGAAGAGCTGAATGAAGTTGGGCCAGACGCTGCTTCCCTGCGAAGGGTTGTGTGGATCTTCTGC
CGCACCAGGCTCATCCTGTCCATCGTGTGCCTGATGATCACGCAGCTGGCTGGCTTCAGTGGACCAAATTTTCAGGATGGCTGTATTCTGCGGTCAGAATGA





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>ABCC5|10057|protein
MKDIDIGKEYIIPSPGYRSVRERTSTSGTHRDREDSKFRRTRPLECQDALETAARAEGLSLDASMHSQLRILDEEHPKGKYHHGLSALKPIRTTSKHQHPVDNAG
LFSCMTFSWLSSLARVAHKKGELSMEDVWSLSKHESSDVNCRRLERLWQEELNEVGPDAASLRRVVWIFCRTRLILSIVCLMITQLAGFSGPNFQDGCILRSE



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Evidence summary 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 CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 0 (0) 1 (1) 0 (0) 1 (1) 2 (2) 0 (0) 0 (0) 0 (0) 23 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Allen-Brady, 2008 - SNP-based genomic screenASD 1 - 1 - 7 22 29
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
0.974896 Down 59.058
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1651964
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018