AutismKB 2.0

Annotation Detail for BST2


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Basic Information Top
Gene Symbol:BST2 ( CD317,TETHERIN )
Gene Full Name: bone marrow stromal cell antigen 2
Band: 19p13.11
Quick LinksEntrez ID:684; OMIM: 600534; Uniprot ID:BST2_HUMAN; ENSEMBL ID: ENSG00000130303; HGNC ID: 1119
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
65N-linked (GlcNAc...).
92N-linked (GlcNAc...).
Location(AA) Modifications Resource
65N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
92N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
161GPI-anchor amidated serine (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
65N-linkedHMM predict
75Phosphothreonine(CK2)HMM predict
92N-linkedHMM predict
157Phosphoserine(ATM)HMM predict
160O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004335
  • Location:chr19 17374755-17377383
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Gata2 K562GSE18868 17376913 17378653 1740 400
TAF k562GSE8489 17378163 17378867 704 1132
USF1 HepG2E 17378001 17378867 866 1051
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 17362935 17363303 368 11637
CTCF CD4GSE12889 17366861 17367143 282 7754
CTCF CD4SISSRdata 17362935 17363303 368 11637
CTCF CD4SISSRdata 17366861 17367143 282 7754
CTCF JurkatGSE12889 17366823 17367074 251 7807
CTCF G2GSE9613 17362754 17363166 412 11796
Fos K562GSE19551 17362652 17363294 642 11783
Myc hESGSE17917 17362818 17363157 339 11768
Oct1 H2O2-HelaGSE14283 17370377 17370414 37 4360
Rb GrowingGSE19898 17366745 17366992 247 7887
Rb SenescentGSE19898 17362817 17363119 302 11788
Rb SenescentGSE19898 17366791 17367081 290 7820
VDR GM10861-stimGSE22484 17362280 17367627 5347 9802
hScc1 BcellGSE12603 17362605 17363277 672 11815
hScc1 BcellGSE12603 17370800 17371267 467 3722
hScc1 CdLSGSE12603 17362187 17363387 1200 11969
p130 SenescentGSE19898 17362525 17362752 227 12117
p130 shRbSenescentGSE19898 17366749 17367032 283 7865
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 17375004 17375360 356 0
PHF8 293TGSE20725 17374627 17375578 951 0
hScc1 BcellGSE12603 17375077 17375477 400 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