AutismKB 2.0

Annotation Detail for ABCC8


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Basic Information Top
Gene Symbol:ABCC8 ( ABC36,HHF1,HI,HRINS,MRP8,PHHI,SUR,SUR1,TNDM2 )
Gene Full Name: ATP-binding cassette, sub-family C (CFTR/MRP), member 8
Band: 11p15.1
Quick LinksEntrez ID:6833; OMIM: 600509; Uniprot ID:ABCC8_HUMAN; ENSEMBL ID: ENSG00000006071; HGNC ID: 59
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
10N-linked (GlcNAc...) (By similarity).
1049N-linked (GlcNAc...) (By similarity).
Location(AA) Modifications Resource
10N-linked (GlcNAc...) (By similarity).Swiss-Prot 53.0
1049N-linked (GlcNAc...) (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
10N-linkedHMM predict
107Phosphotyrosine(INSR)HMM predict
405Phosphoserine(IKK)HMM predict
491PhosphotyrosineHMM predict
524Phosphothreonine(PKC)HMM predict
600Phosphothreonine(PKC)HMM predict
615Phosphoserine(CK2)HMM predict
630Phosphothreonine(CDK)HMM predict
698N-linkedHMM predict
771Phosphotyrosine(Abl)HMM predict
780N-linkedHMM predict
786N-linkedHMM predict
892Phosphotyrosine(Jak)HMM predict
949Phosphothreonine(PKA)HMM predict
960Phosphoserine(PKB)HMM predict
979Phosphoserine(CK2)HMM predict
979Phosphoserine(CK2)HMM predict
1063Phosphotyrosine(Syk)HMM predict
1382Phosphoserine(CAMK2)HMM predict
1382Phosphoserine(IKK)HMM predict
1446Phosphoserine(PKG)HMM predict
1482Phosphoserine(ATM)HMM predict
1571Phosphoserine(PKA)HMM predict
1571Phosphoserine(CAMK2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000352
  • Location:chr11 17371008-17455024
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K27me3 colorectalcancer 17455215 17457436 2221 1301
NRSF JurkatGSE13047 17455943 17456650 707 1272
NRSF mAbJurkat 17455430 17458105 2675 1743
NRSF-mono JurkatQuESTdata 17455975 17456626 651 1276
NRSF-poly JurkatQuESTdata 17455650 17456686 1036 1144
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER Breast-CancerGSE22609 17383695 17384372 677 0
ER MCF7GSE19013 17383572 17384691 1119 0
FOXA1 DLD1GSE12801 17417443 17418012 569 0
FOXA1 MCF7GSE15244 17379157 17379322 165 0
FOXA1 MCF7GSE15244 17390482 17392004 1522 0
FOXA1 MCF7GSE15244 17398167 17398535 368 0
FOXA1 MCF7GSE15244 17417205 17418153 948 0
FOXA1 MCF7GSE15244 17449419 17449626 207 0
FoxA1 MCF7MACSdata 17417547 17417853 306 0
H3K27me3 colorectalcancer 17453661 17453994 333 0
NRSF-mono JurkatQuESTdata 17394623 17395070 447 0
NRSF pAbJurkat 17375714 17376339 625 0
NRSF pAbJurkat 17382565 17382843 278 0
NRSF pAbJurkat 17408187 17408458 271 0
NRSF pAbJurkat 17417584 17417949 365 0
Nanog hESGSE18292 17390974 17391239 265 0
RARG MCF7GSE15244 17383204 17384762 1558 0
RARG MCF7GSE15244 17413427 17413947 520 0
RARG MCF7GSE15244 17449488 17449626 138 0
TFAP2C MCF7GSE21234 17423454 17423851 397 0
TFAP2C MCF7GSE21234 17438117 17438636 519 0
hScc1 BcellGSE12603 17382695 17382843 148 0
Validated miRNA targets Top
Cis-Nats regulation Top

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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