AutismKB 2.0

Annotation Detail for SH3GL1


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Basic Information Top
Gene Symbol:SH3GL1 ( CNSA1,EEN,MGC111371,SH3D2B,SH3P8 )
Gene Full Name: SH3-domain GRB2-like 1
Band: 19p13.3
Quick LinksEntrez ID:6455; OMIM: 601768; Uniprot ID:SH3G1_HUMAN; ENSEMBL ID: ENSG00000141985; HGNC ID: 10830
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
287Phosphoserine.
288Phosphoserine.
Location(AA) Modifications Resource
288Phosphoserine (By similarity).Swiss-Prot 53.0
315Phosphotyrosine (FAK;Src)Phospho.ELM 6.0
Location(AA) Modification Resource
86Phosphotyrosine(EGFR)HMM predict
170Phosphotyrosine(Jak)HMM predict
278O-linkedHMM predict
288Phosphoserine(IKK)HMM predict
291Phosphoserine(CDC2)HMM predict
298Phosphothreonine(MAPK)HMM predict
298Phosphothreonine(CDK)HMM predict
344Phosphotyrosine(Syk)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003025
  • Location:chr19 4311367-4351470
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 4351176 4351865 689 50
ETS1 JurkatGSE17954 4351084 4351910 826 27
VDR GM10861-stimGSE22484 4351034 4352371 1337 232
hScc1 CdLSGSE12603 4351141 4351865 724 33
p130 QuiescentGSE19898 4351590 4351919 329 284
p130 SenescentGSE19898 4351601 4351906 305 283
p130 shRbQuiescentGSE19898 4351614 4351914 300 294
p130 shRbSenescentGSE19898 4351614 4351974 360 324
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 4320998 4321326 328 0
CTCF CD4SISSRdata 4320998 4321326 328 0
ER E2-MCF7GSE14664 4312014 4312048 34 0
ER E2-MCF7GSE14664 4332899 4332954 55 0
ER E2-MCF7GSE14664 4333870 4333949 79 0
ER Fulvestrant-MCF7GSE14664 4333893 4333970 77 0
H3K4me3 colorectalcancer 4350684 4350868 184 0
H3ac HepG2E 4350684 4351069 385 0
Nanog hESGSE18292 4341591 4341778 187 0
Oct1 H2O2-HelaGSE14283 4319882 4319911 29 0
Oct1 HelaGSE14283 4339943 4339973 30 0
PHF8 HeLaGSE20725 4350833 4351808 975 0
RARA MCF7GSE15244 4326003 4327316 1313 0
TAF HelaGSE8489 4344855 4345074 219 0
TFAP2C MCF7GSE21234 4325211 4327580 2369 0
TFAP2C MCF7GSE21234 4330269 4331071 802 0
TFAP2C MCF7GSE21234 4339545 4340209 664 0
USF1 HepG2E 4341604 4342810 1206 0
USF2 HepG2E 4342118 4342655 537 0
hScc1 BcellGSE12603 4312521 4313220 699 0
hScc1 BcellGSE12603 4320344 4321423 1079 0
hScc1 BcellGSE12603 4339705 4340386 681 0
hScc1 BcellGSE12603 4351176 4351665 489 0
p130 shRbSenescentGSE19898 4325901 4326188 287 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
12526 EST chr19 4314785 4315318 194 mRNA SH3GL1 chr19 4311367 4351471Sense/Antisense (SA) pairs

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