AutismKB 2.0

Annotation Detail for VHL


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Basic Information Top
Gene Symbol:VHL ( HRCA1,RCA1,VHL1 )
Gene Full Name: von Hippel-Lindau tumor suppressor
Band: 3p25.3
Quick LinksEntrez ID:7428; OMIM: 608537; Uniprot ID:VHL_HUMAN; ENSEMBL ID: ENSG00000134086; HGNC ID: 12687
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
23Phosphotyrosine(INSR)HMM predict
33Phosphoserine(CK2)HMM predict
38Phosphoserine(CK2)HMM predict
43Phosphoserine(CK2)HMM predict
43Phosphoserine(ATM)HMM predict
72Phosphoserine(ATM)HMM predict
78N-linkedHMM predict
80Phosphoserine(CDC2)HMM predict
100O-linkedHMM predict
131N-linkedHMM predict
150N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000551
  • Location:chr3 10158318-10168743
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 10158297 10158908 611 0
FOXA1 MCF7GSE15244 10160414 10160598 184 0
H3K4me2 HCT116GSE10453 10159343 10159652 309 0
H3K4me3 colorectalcancer 10159343 10159776 433 0
H3ac HepG2E 10159343 10159776 433 0
NFkBII GM15510GSE19485 10157886 10159202 1316 0
PHF8 293TGSE20725 10157975 10159072 1097 0
PHF8 HeLaGSE20725 10157964 10159373 1409 0
PHF8 Hs68minusFBSGSE20725 10158154 10159366 1212 0
PHF8 Hs68plusFBSGSE20725 10158121 10159195 1074 0
RARA MCF7GSE15244 10160414 10160598 184 0
hScc1 BcellGSE12603 10158297 10158908 611 0
Validated miRNA targets Top
Cis-Nats regulation 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