AutismKB 2.0

Annotation Detail for BBS9


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Basic Information Top
Gene Symbol:BBS9 ( B1,C18,D1,MGC118917,PTHB1 )
Gene Full Name: Bardet-Biedl syndrome 9
Band: 7p14.3
Quick LinksEntrez ID:27241; OMIM: 607968; Uniprot ID:PTHB1_HUMAN; ENSEMBL ID: ENSG00000122507; HGNC ID: 30000
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
137N-linkedHMM predict
192O-linkedHMM predict
192Phosphoserine(IKK)HMM predict
254N-linkedHMM predict
396N-linkedHMM predict
425Phosphoserine(ATM)HMM predict
425Phosphoserine(IKK)HMM predict
439O-linkedHMM predict
458Phosphoserine(PKG)HMM predict
484O-linkedHMM predict
486Phosphoserine(PKA)HMM predict
486Phosphoserine(PKG)HMM predict
490Phosphotyrosine(Syk)HMM predict
496Phosphothreonine(CDK)HMM predict
543O-linkedHMM predict
553N-linkedHMM predict
555Phosphoserine(CDC2)HMM predict
570Phosphoserine(CK2)HMM predict
788Phosphoserine(CK1)HMM predict
849Phosphoserine(CK2)HMM predict
855Phosphoserine(CK1)HMM predict
874Phosphothreonine(CDC2)HMM predict
874Phosphothreonine(MAPK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001033604
  • Location:chr7 33135676-33612204
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 33135132 33135466 334 378
ETS1 JurkatGSE17954 33134776 33136060 1284 259
P300 T30-glioblastomaGSE21026 33135023 33136147 1124 92
PHF8 293TGSE20725 33134917 33136173 1256 132
PHF8 HeLaGSE20725 33134741 33135944 1203 334
hScc1 BcellGSE12603 33134838 33135833 995 341
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 33191885 33192185 300 0
CTCF CD4SISSRdata 33191885 33192185 300 0
CTCF G2GSE9613 33386213 33386440 227 0
FOXA1 MCF7GSE15244 33135274 33136225 951 0
FOXA1 MCF7GSE15244 33478698 33479245 547 0
NRSF mAbJurkat 33384192 33384337 145 0
Nanog ESGSE20650 33222700 33223015 315 0
Nanog ESGSE20650 33297816 33298255 439 0
Nanog hESGSE18292 33297800 33298305 505 0
Nanog hESGSE18292 33424389 33424976 587 0
Nanog hESGSE18292 33482712 33482945 233 0
Oct1 H2O2-HelaGSE14283 33247955 33248007 52 0
Oct1 H2O2-HelaGSE14283 33333676 33333708 32 0
Oct1 HelaGSE14283 33247956 33248007 51 0
Oct1 HelaGSE14283 33249274 33249302 28 0
Oct1 HelaGSE14283 33259576 33259603 27 0
Oct1 HelaGSE14283 33273844 33273882 38 0
Oct1 HelaGSE14283 33333670 33333704 34 0
Stat6 IL-4-hr4GSE17850 33492229 33492718 489 0
TFAP2C MCF7GSE21234 33316639 33316925 286 0
hScc1 CdLSGSE12603 33191897 33192305 408 0
p63 keratinocytesGSE17611 33293898 33294653 755 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-101 hsa-mir-101-1 1 21098446
hsa-miR-101 hsa-mir-101-2 9 21098446
hsa-miR-124 hsa-mir-124-1 8 17344415
hsa-miR-124 hsa-mir-124-2 8 17344415
hsa-miR-124 hsa-mir-124-3 20 17344415
hsa-miR-183 hsa-mir-183 7 19940135
hsa-miR-183* hsa-mir-183 7 19940135
hsa-miR-192 hsa-mir-192 11 17360662
hsa-miR-192* hsa-mir-192 11 17360662
hsa-miR-204 hsa-mir-204 9 20691260
hsa-miR-210 hsa-mir-210 11 19386621
hsa-miR-215 hsa-mir-215 1 17360662
hsa-miR-223 hsa-mir-223 X 21098446
hsa-miR-223* hsa-mir-223 X 21098446
hsa-miR-27a hsa-mir-27a 19 21149577
hsa-miR-27a* hsa-mir-27a 19 21149577
hsa-miR-328 hsa-mir-328 16 21098446
hsa-miR-338-3p hsa-mir-338 17 19386621
hsa-miR-33a hsa-mir-33a 22 19386621
hsa-miR-33a* hsa-mir-33a 22 19386621
hsa-miR-382 hsa-mir-382 14 20716515
hsa-miR-451 hsa-mir-451 17 19386621
hsa-miR-488 hsa-mir-488 1 20828368
hsa-miR-488* hsa-mir-488 1 20828368
hsa-miR-499-3p hsa-mir-499 20 21098446
hsa-miR-499-5p hsa-mir-499 20 21098446
hsa-miR-664 hsa-mir-664 0 21098446
hsa-miR-664* hsa-mir-664 0 21098446
hsa-miR-92a hsa-mir-92a-1 13 20484043
hsa-miR-92a hsa-mir-92a-2 X 20484043
No data
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