AutismKB 2.0

Annotation Detail for BBS5


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Basic Information Top
Gene Symbol:BBS5 ( - )
Gene Full Name: Bardet-Biedl syndrome 5
Band: 2q31.1
Quick LinksEntrez ID:129880; OMIM: 603650; Uniprot ID:BBS5_HUMAN; ENSEMBL ID: ENSG00000163093,ENSG00000251569; HGNC ID: 970
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_152384
  • Location:chr2 170044251-170071409
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 170027780 170028743 963 15990
ER E2-MCF7GSE14664 170038466 170038507 41 5765
P300 T0-glioblastomaGSE21026 170028021 170028750 729 15866
P300 T30-glioblastomaGSE21026 170027704 170028807 1103 15996
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 170072366 170072875 509 1211
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 170044240 170044585 345 0
H3K4me3 colorectalcancer 170044306 170044972 666 0
PHF8 Hs68plusFBSGSE20725 170043703 170044911 1208 0
hScc1 BcellGSE12603 170044124 170044487 363 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