AutismKB 2.0

Annotation Detail for GPATCH2


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Basic Information Top
Gene Symbol:GPATCH2 ( CT110,FLJ10252,FLJ21048,GPATC2,MGC74998,RP11-361K17.1 )
Gene Full Name: G patch domain containing 2
Band: 1q41
Quick LinksEntrez ID:55105; OMIM: NA; Uniprot ID:GPTC2_HUMAN; ENSEMBL ID: ENSG00000092978; HGNC ID: 25499
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
50Phosphothreonine.
115Phosphoserine.
117Phosphoserine.
195Phosphoserine.
Location(AA) Modifications Resource
115Phosphoserine.Swiss-Prot 53.0
117Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
39Phosphoserine(CK1)HMM predict
40Phosphoserine(CK2)HMM predict
58Phosphoserine(PKB)HMM predict
75Phosphoserine(PKC)HMM predict
76Phosphotyrosine(Jak)HMM predict
92Phosphoserine(CK1)HMM predict
94Phosphoserine(CK2)HMM predict
95Phosphoserine(IKK)HMM predict
115Phosphoserine(CK2)HMM predict
130Phosphoserine(IKK)HMM predict
155N-linkedHMM predict
157Phosphothreonine(PKC)HMM predict
199SulfotyrosineHMM predict
236N-linkedHMM predict
239N-linkedHMM predict
256Phosphoserine(CK1)HMM predict
258Phosphoserine(CK2)HMM predict
258Phosphoserine(ATM)HMM predict
261Phosphoserine(CK1)HMM predict
262O-linkedHMM predict
262Phosphoserine(CK1)HMM predict
262Phosphoserine(IKK)HMM predict
264Phosphoserine(CK1)HMM predict
266O-linkedHMM predict
288Phosphotyrosine(Syk)HMM predict
364O-linkedHMM predict
382Phosphoserine(ATM)HMM predict
428Phosphothreonine(PKC)HMM predict
429Phosphoserine(PKB)HMM predict
515O-linkedHMM predict
515Phosphoserine(IKK)HMM predict
517Phosphoserine(IKK)HMM predict
519O-linkedHMM predict
520O-linkedHMM predict
521Phosphothreonine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_018040
  • Location:chr1 215670456-215871031
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 215870961 215871152 191 25
CTCF CD4SISSRdata 215870961 215871152 191 25
PHF8 293TGSE20725 215870697 215871604 907 119
PHF8 HeLaGSE20725 215870527 215871598 1071 31
TFAP2C MCF7GSE21234 215870641 215871527 886 53
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 215664557 215665604 1047 5376
RARA MCF7GSE15244 215664703 215665500 797 5355
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 215799638 215799808 170 0
FOXA1 MCF7GSE15244 215779202 215779801 599 0
FoxA1 MCF7MACSdata 215756325 215756591 266 0
FoxA1 MCF7MACSdata 215814667 215814819 152 0
H3ac HepG2E 215869539 215870283 744 0
Nanog ESGSE20650 215671392 215671674 282 0
Nanog ESGSE20650 215791124 215791623 499 0
Nanog hESGSE18292 215860974 215861180 206 0
RARA MCF7GSE15244 215779311 215779765 454 0
RARA MCF7GSE15244 215812316 215815402 3086 0
RARG MCF7GSE15244 215812744 215813762 1018 0
TFAP2C MCF7GSE21234 215758589 215759068 479 0
hScc1 BcellGSE12603 215860848 215861027 179 0
p63 keratinocytesGSE17611 215696868 215697667 799 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