AutismKB 2.0

Annotation Detail for SH3GLB1


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Basic Information Top
Gene Symbol:SH3GLB1 ( Bif-1,KIAA0491,dJ612B15.2 )
Gene Full Name: SH3-domain GRB2-like endophilin B1
Band: 1p22.3
Quick LinksEntrez ID:51100; OMIM: 609287; Uniprot ID:SHLB1_HUMAN; ENSEMBL ID: ENSG00000097033; HGNC ID: 10833
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
80Phosphotyrosine(Syk)HMM predict
80Phosphotyrosine(SRC)HMM predict
177Phosphothreonine(PKC)HMM predict
189N-linkedHMM predict
190Phosphoserine(CK1)HMM predict
191Phosphoserine(CAMK2)HMM predict
254Phosphoserine(IKK)HMM predict
264N-linkedHMM predict
267O-linkedHMM predict
269O-linkedHMM predict
269Phosphothreonine(MAPK)HMM predict
269Phosphothreonine(CDK)HMM predict
269PhosphothreonineHMM predict
273O-linkedHMM predict
294Phosphoserine(CDC2)HMM predict
320N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_016009
  • Location:chr1 86942844-86986453
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF JurkatGSE12889 86942683 86942897 214 55
H3K4me3 colorectalcancer 86942040 86942638 598 506
H3ac HepG2E 86941611 86942675 1064 702
TAF k562GSE8489 86941444 86942638 1194 804
p130 QuiescentGSE19898 86942355 86942569 214 383
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 86942697 86943212 515 0
CTCF CD4SISSRdata 86942697 86943212 515 0
CTCF G2GSE9613 86942489 86943399 910 0
H3K4me3 colorectalcancer 86943812 86944310 498 0
H3K4me3 colorectalcancer 86944622 86944856 234 0
H3ac HepG2E 86943603 86944310 707 0
H3ac HepG2E 86945507 86945813 306 0
KLF4 hESGSE17917 86942847 86943144 297 0
Nanog hESGSE18292 86980106 86980518 412 0
PHF8 Hs68plusFBSGSE20725 86942116 86944159 2043 0
Sox2 hESGSE18292 86980190 86980524 334 0
hScc1 BcellGSE12603 86942489 86943282 793 0
hScc1 CdLSGSE12603 86942562 86943752 1190 0
p130 QuiescentGSE19898 86942827 86943046 219 0
p130 QuiescentGSE19898 86943611 86944032 421 0
p130 SenescentGSE19898 86943438 86943744 306 0
p130 shRbQuiescentGSE19898 86943358 86943686 328 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