AutismKB 2.0

Annotation Detail for BBS7


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Basic Information Top
Gene Symbol:BBS7 ( BBS2L1,FLJ10715 )
Gene Full Name: Bardet-Biedl syndrome 7
Band: 4q27
Quick LinksEntrez ID:55212; OMIM: 607590; Uniprot ID:BBS7_HUMAN; ENSEMBL ID: ENSG00000138686; HGNC ID: 18758
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
32Phosphothreonine(PKA)HMM predict
77Phosphothreonine(MAPK)HMM predict
106N-linkedHMM predict
141Phosphotyrosine(Syk)HMM predict
288Phosphoserine(ATM)HMM predict
302Phosphotyrosine(EGFR)HMM predict
302Phosphotyrosine(INSR)HMM predict
315O-linkedHMM predict
428O-linkedHMM predict
431O-linkedHMM predict
434Phosphoserine(IKK)HMM predict
434Phosphoserine(CK1)HMM predict
569N-linkedHMM predict
581Phosphoserine(CK1)HMM predict
585Phosphothreonine(PKC)HMM predict
660Phosphotyrosine(Syk)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_018190
  • Location:chr4 122968332-123011091
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Rb GrowingGSE19898 123011092 123011246 154 78
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 123010460 123011184 724 0
Fos K562GSE19551 122968354 122968888 534 0
H3K4me3 colorectalcancer 123009611 123009888 277 0
NFkBII GM10847GSE19485 123010439 123011448 1009 0
Oct1 H2O2-HelaGSE14283 123006612 123006641 29 0
Oct1 HelaGSE14283 122996519 122996563 44 0
Oct1 HelaGSE14283 123006612 123006642 30 0
P300 T30-glioblastomaGSE21026 123010509 123011506 997 0
PHF8 293TGSE20725 123010474 123011496 1022 0
PHF8 HeLaGSE20725 123010353 123011278 925 0
Rb QuiescentGSE19898 123010892 123011233 341 0
Rb SenescentGSE19898 123010656 123011288 632 0
TAFII hESGSE17917 123010665 123011375 710 0
hScc1 BcellGSE12603 123010496 123011052 556 0
p130 QuiescentGSE19898 123010943 123011156 213 0
p130 shRbQuiescentGSE19898 123010505 123011044 539 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