AutismKB 2.0

Annotation Detail for STOML2


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Basic Information Top
Gene Symbol:STOML2 ( SLP-2 )
Gene Full Name: stomatin (EPB72)-like 2
Band: 9p13.3
Quick LinksEntrez ID:30968; OMIM: 608292; Uniprot ID:STML2_HUMAN; ENSEMBL ID: ENSG00000165283; HGNC ID: 14559
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
124Phosphotyrosine.
145N6-acetyllysine.
233N6-acetyllysine.
327Phosphothreonine.
Location(AA) Modifications Resource
124Phosphotyrosine.Swiss-Prot 53.0
124PhosphotyrosinePhospho.ELM 6.0
Location(AA) Modification Resource
29Phosphoserine(PKG)HMM predict
96N-linkedHMM predict
124Phosphotyrosine(Jak)HMM predict
124Phosphotyrosine(Abl)HMM predict
124Phosphotyrosine(INSR)HMM predict
124Phosphotyrosine(Syk)HMM predict
327Phosphothreonine(CDK)HMM predict
327Phosphothreonine(CDC2)HMM predict
327Phosphothreonine(MAPK)HMM predict
330O-linkedHMM predict
332Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_013442
  • Location:chr9 35089892-35093153
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 35092875 35093616 741 92
Fos K562GSE19551 35092923 35093730 807 173
LIN9 G0GSE7516 35093073 35093775 702 271
P300 T0-glioblastomaGSE21026 35092902 35093627 725 111
P300 T30-glioblastomaGSE21026 35092606 35093881 1275 90
Rb QuiescentGSE19898 35092889 35093695 806 139
Rb SenescentGSE19898 35092882 35093748 866 162
p130 QuiescentGSE19898 35092744 35093812 1068 125
p130 SenescentGSE19898 35092949 35093606 657 124
p130 shRbQuiescentGSE19898 35092385 35094098 1713 88
p130 shRbSenescentGSE19898 35092829 35093872 1043 197
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 35092455 35093576 1121 0
GABP k562GSE8489 35089397 35093997 4600 0
H3K4me2 HCT116GSE10453 35091496 35092504 1008 0
H3K4me3 colorectalcancer 35092020 35092991 971 0
H3ac HepG2E 35090675 35093502 2827 0
PHF8 293TGSE20725 35092497 35093758 1261 0
hScc1 BcellGSE12603 35092955 35093323 368 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