AutismKB 2.0

Annotation Detail for GIPC1


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Basic Information Top
Gene Symbol:GIPC1 ( C19orf3,GIPC,GLUT1CBP,Hs.6454,IIP-1,MGC15889,MGC3774,NIP,RGS19IP1,SEMCAP,SYNECTIIN,SYNECTIN,TIP-2 )
Gene Full Name: GIPC PDZ domain containing family, member 1
Band: 19p13.12
Quick LinksEntrez ID:10755; OMIM: 605072; Uniprot ID:GIPC1_HUMAN; ENSEMBL ID: ENSG00000123159; HGNC ID: 1226
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
24MethylarginineHMM predict
70Phosphothreonine(PKC)HMM predict
222Phosphoserine(ATM)HMM predict
229MethylarginineHMM predict
232O-linkedHMM predict
232Phosphoserine(IKK)HMM predict
323GlycineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_202467
  • Location:chr19 14449571-14467943
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 14467688 14468573 885 187
Myc K562GSE19551 14467880 14468500 620 247
TFAP2C MCF7GSE21234 14474342 14475017 675 6736
USF1 HepG2E 14468145 14469586 1441 922
USF2 HepG2E 14468145 14469450 1305 854
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 14448184 14448563 379 1198
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 14451844 14452152 308 0
CTCF CD4GSE12889 14458232 14458507 275 0
CTCF CD4SISSRdata 14451844 14452152 308 0
CTCF CD4SISSRdata 14458232 14458507 275 0
CTCF HelaGSE12889 14458279 14458501 222 0
CTCF JurkatGSE12889 14458325 14458503 178 0
Myc K562GSE19551 14458109 14458593 484 0
Rb GrowingGSE19898 14457885 14458087 202 0
hScc1 BcellGSE12603 14452077 14452347 270 0
p130 SenescentGSE19898 14452125 14452383 258 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