AutismKB 2.0

Annotation Detail for BBS1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:BBS1 ( BBS2L2,FLJ23590,MGC126183,MGC126184,MGC51114 )
Gene Full Name: Bardet-Biedl syndrome 1
Band: 11q13.2
Quick LinksEntrez ID:582; OMIM: 209901; Uniprot ID:BBS1_HUMAN; ENSEMBL ID: ENSG00000174483; HGNC ID: 966
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine.
369Phosphothreonine.
392Phosphothreonine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
28Phosphotyrosine(Syk)HMM predict
180Phosphoserine(CK2)HMM predict
193Phosphoserine(CK1)HMM predict
279Phosphoserine(PKG)HMM predict
476Phosphoserine(IKK)HMM predict
476Phosphoserine(ATM)HMM predict
476Phosphoserine(MAPK)HMM predict
476Phosphoserine(CDC2)HMM predict
480Phosphothreonine(PKC)HMM predict
507N-linkedHMM predict
508O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_024649
  • Location:chr11 66034694-66057659
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct4 hESGSE17917 66034562 66034805 243 11
P300 T0-glioblastomaGSE21026 66034084 66034980 896 163
Rb SenescentGSE19898 66034502 66034883 381 2
p130 SenescentGSE19898 66034443 66034877 434 35
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 66047115 66047537 422 0
H3ac HepG2E 66034757 66035612 855 0
NRSF pAbJurkat 66054644 66055349 705 0
P300 T30-glioblastomaGSE21026 66034353 66035252 899 0
Rb GrowingGSE19898 66035221 66035429 208 0
TAF HelaGSE8489 66045214 66045527 313 0
TAFII hESGSE17917 66034421 66034976 555 0
hScc1 BcellGSE12603 66034583 66034978 395 0
hScc1 BcellGSE12603 66053631 66054021 390 0
p130 shRbQuiescentGSE19898 66034457 66034951 494 0
p130 shRbSenescentGSE19898 66034415 66035070 655 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
4750 mRNA BBS1 chr11 66034694 66057660 107 HTC chr11 66044683 66070083Sense/Antisense (SA) pairs

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