AutismKB 2.0

Annotation Detail for HBS1L


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Basic Information Top
Gene Symbol:HBS1L ( DKFZp686L13262,EF-1a,ERFS,HBS1,HSPC276 )
Gene Full Name: HBS1-like (S. cerevisiae)
Band: 6q23.3
Quick LinksEntrez ID:10767; OMIM: 612450; Uniprot ID:HBS1L_HUMAN; ENSEMBL ID: ENSG00000112339; HGNC ID: 4834
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
22SulfotyrosineHMM predict
33Phosphoserine(CDC2)HMM predict
36O-linkedHMM predict
56SulfotyrosineHMM predict
58SulfotyrosineHMM predict
58Phosphotyrosine(Syk)HMM predict
58Phosphotyrosine(SRC)HMM predict
67Phosphoserine(CK1)HMM predict
151Phosphothreonine(PKC)HMM predict
154Phosphoserine(CK1)HMM predict
173Phosphothreonine(PKC)HMM predict
183PhosphoserineHMM predict
192Phosphothreonine(CDC2)HMM predict
230O-linkedHMM predict
230Phosphoserine(IKK)HMM predict
230O-linkedHMM predict
231Phosphothreonine(MAPK)HMM predict
386Phosphothreonine(PKC)HMM predict
456Phosphoserine(ATM)HMM predict
458Phosphoserine(IKK)HMM predict
513Phosphotyrosine(Jak)HMM predict
516Phosphothreonine(PKC)HMM predict
526N-linkedHMM predict
647Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006620
  • Location:chr6 135323215-135417714
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 135417141 135418320 1179 16
RARA MCF7GSE15244 135417853 135418026 173 225
TAF k562GSE8489 135418350 135419175 825 1048
p130 QuiescentGSE19898 135417335 135418195 860 51
p130 shRbQuiescentGSE19898 135417464 135418141 677 88
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 135365150 135365430 280 0
CTCF CD4SISSRdata 135365150 135365430 280 0
ER E2-MCF7GSE14664 135345860 135345913 53 0
ER E2-MCF7GSE14664 135351219 135351258 39 0
FOXA1 MCF7GSE15244 135417318 135418026 708 0
H3K4me3 colorectalcancer 135416182 135417531 1349 0
H3ac HepG2E 135416255 135417642 1387 0
NFkBII GM12878GSE19485 135364658 135366533 1875 0
Nanog ESGSE20650 135361973 135362310 337 0
Nanog ESGSE20650 135388680 135388998 318 0
Oct1 HelaGSE14283 135351214 135351255 41 0
Oct4 hESGSE17917 135417519 135417785 266 0
P300 T0-glioblastomaGSE21026 135347650 135347991 341 0
P300 T0-glioblastomaGSE21026 135417197 135418165 968 0
P300 T30-glioblastomaGSE21026 135417245 135418056 811 0
PHF8 293TGSE20725 135417015 135418401 1386 0
PHF8 Hs68minusFBSGSE20725 135416893 135418092 1199 0
PHF8 Hs68plusFBSGSE20725 135416997 135418153 1156 0
PolII HeLaGSE12783 135416728 135418320 1592 0
Rb GrowingGSE19898 135417325 135417719 394 0
Rb QuiescentGSE19898 135417252 135418014 762 0
Rb SenescentGSE19898 135417293 135417874 581 0
Stat6 IL-4-hr4GSE17850 135346642 135347145 503 0
TAF HelaGSE8489 135416505 135417531 1026 0
TAF k562GSE8489 135415446 135418026 2580 0
TFAP2C MCF7GSE21234 135417251 135417969 718 0
p130 SenescentGSE19898 135417137 135418120 983 0
p130 shRbSenescentGSE19898 135417140 135417996 856 0
p63 keratinocytesGSE17611 135346853 135347486 633 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