AutismKB 2.0

Annotation Detail 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
Post Translation Modification Top
Location(AA) Modification
494N-linked (GlcNAc...) (Potential).
505Phosphoserine.
509Phosphoserine.
513Phosphothreonine.
636N-linked (GlcNAc...) (Potential).
684N-linked (GlcNAc...) (Potential).
890N-linked (GlcNAc...) (Potential).
897N-linked (GlcNAc...) (Potential).
1044N-linked (GlcNAc...) (Potential).
1329N-linked (GlcNAc...) (Potential).
1417N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
494N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
636N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
684N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
890N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
897N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1044N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1329N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1417N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
25Phosphoserine(IKK)HMM predict
25O-linkedHMM predict
41Phosphothreonine(PKA)HMM predict
67Phosphoserine(ATM)HMM predict
235Phosphoserine(IKK)HMM predict
256Phosphothreonine(PKC)HMM predict
450O-linkedHMM predict
485Phosphoserine(CDC2)HMM predict
494N-linkedHMM predict
504Phosphoserine(CK1)HMM predict
513Phosphothreonine(MAPK)HMM predict
558Phosphoserine(MAPK)HMM predict
558PhosphoserineHMM predict
636N-linkedHMM predict
642N-linkedHMM predict
654Phosphotyrosine(Syk)HMM predict
654Phosphotyrosine(EGFR)HMM predict
803Phosphoserine(ATM)HMM predict
890N-linkedHMM predict
897N-linkedHMM predict
904Phosphoserine(IKK)HMM predict
913Phosphotyrosine(Jak)HMM predict
940Phosphothreonine(PKC)HMM predict
1044N-linkedHMM predict
1151Phosphoserine(CAMK2)HMM predict
1158Phosphothreonine(PKC)HMM predict
1184Phosphoserine(CDC2)HMM predict
1231Phosphoserine(IKK)HMM predict
1231Phosphoserine(CAMK2)HMM predict
1268Phosphoserine(CK1)HMM predict
1271Phosphoserine(PKG)HMM predict
1294Phosphotyrosine(Syk)HMM predict
1417N-linkedHMM predict
1422PhenylalanineHMM predict
1423PhenylalanineHMM predict
1424PhenylalanineHMM predict
1425PhenylalanineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001023587
  • Location:chr3 185184235-185218420
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 185218568 185218917 349 322
Gata1 K562GSE18868 185218383 185219147 764 345
Gata2 K562GSE18868 185218171 185219135 964 233
H3K4me3 colorectalcancer 185218779 185218917 138 428
RARG MCF7GSE15244 185218568 185218917 349 322
TFAP2C MCF7GSE21234 185218048 185218986 938 97
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 185187016 185189564 2548 0
CTCF G2GSE9613 185216777 185218645 1868 0
ER MCF7GSE19013 185211736 185212362 626 0
ETS1 JurkatGSE17954 185217716 185219003 1287 0
FOXA1 MCF7GSE15244 185185074 185186200 1126 0
FOXA1 MCF7GSE15244 185206581 185206877 296 0
FOXA1 MCF7GSE15244 185208352 185209299 947 0
FOXA1 MCF7GSE15244 185211539 185211757 218 0
H3ac HepG2E 185216923 185217665 742 0
HIF1 HypoHepG2 185211539 185211757 218 0
Myc K562GSE19551 185206471 185206840 369 0
P300 T30-glioblastomaGSE21026 185217724 185218932 1208 0
PHF8 293TGSE20725 185217883 185218933 1050 0
PHF8 HeLaGSE20725 185217726 185219028 1302 0
RARA MCF7GSE15244 185206404 185207259 855 0
RARA MCF7GSE15244 185211539 185211757 218 0
RARG MCF7GSE15244 185206440 185207041 601 0
RARG MCF7GSE15244 185211539 185211757 218 0
Rb QuiescentGSE19898 185204001 185204216 215 0
hScc1 BcellGSE12603 185217356 185218917 1561 0
hScc1 CdLSGSE12603 185217635 185218359 724 0
hScc1 G2GSE9613 185217310 185218779 1469 0
p63 keratinocytesGSE17611 185191832 185192657 825 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
19085 EST chr3 185206827 185211909 5082 mRNA ABCC5 chr3 185120427 185218377 Non-exonic Bidirectional (NOB) pairs

Simple Query:


  (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


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