AutismKB 2.0

Annotation Detail for STOM


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Basic Information Top
Gene Symbol:STOM ( BND7,EPB7,EPB72 )
Gene Full Name: stomatin
Band: 9q33.2
Quick LinksEntrez ID:2040; OMIM: 133090; Uniprot ID:STOM_HUMAN; ENSEMBL ID: ENSG00000148175; HGNC ID: 3383
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
10Phosphoserine; by PKA.
161Phosphoserine (By similarity).
244Phosphoserine.
Location(AA) Modifications Resource
9Phosphoserine (PKA
10Phosphoserine (by PKA).Swiss-Prot 53.0
30S-palmitoyl cysteine.Swiss-Prot 53.0
87S-palmitoyl cysteine; partial.Swiss-Prot 53.0
Location(AA) Modification Resource
7Phosphothreonine(PKC)HMM predict
7Phosphothreonine(PKA)HMM predict
10Phosphoserine(PKA)HMM predict
22Phosphoserine(CDC2)HMM predict
30S-palmitoylHMM predict
87S-palmitoylHMM predict
128N-linkedHMM predict
135N-linkedHMM predict
138N-linkedHMM predict
264N-linkedHMM predict
285SerineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_198194
  • Location:chr9 123141177-123172365
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 123174341 123175586 1245 2598
FoxA1 MCF7MACSdata 123174584 123174962 378 2408
Oct1 HelaGSE14283 123181469 123181495 26 9117
TAF k562GSE8489 123172505 123172883 378 329
TAF k562GSE8489 123174341 123174550 209 2080
TFAP2C MCF7GSE21234 123171779 123172972 1193 10
USF1 HepG2E 123174341 123174616 275 2113
USF1 HepG2E 123175020 123175307 287 2798
USF2 HepG2E 123174341 123174653 312 2132
USF2 HepG2E 123175020 123175232 212 2761
hScc1 BcellGSE12603 123171854 123172883 1029 3
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 123171051 123171891 840 0
Myc K562GSE19551 123153314 123153789 475 0
Oct1 HelaGSE14283 123141509 123141547 38 0
PHF8 293TGSE20725 123171577 123173021 1444 0
PHF8 HeLaGSE20725 123171495 123173055 1560 0
Rb GrowingGSE19898 123153104 123153403 299 0
STAT1 HeLaGSE12782 123164428 123165856 1428 0
STAT1 HeLaGSE12783 123164462 123165781 1319 0
TAF HelaGSE8489 123171051 123171376 325 0
p130 QuiescentGSE19898 123152548 123152796 248 0
p130 shRbSenescentGSE19898 123152324 123152524 200 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-1 hsa-mir-1-2 18 15685193
hsa-miR-1 hsa-mir-1-1 20 15685193
hsa-miR-124 hsa-mir-124-1 8 15685193
hsa-miR-124 hsa-mir-124-2 8 15685193
hsa-miR-124 hsa-mir-124-3 20 15685193
hsa-miR-373 hsa-mir-373 19 15685193
hsa-miR-373* hsa-mir-373 19 15685193
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
399 Unknown MicroArray miR-124 STOM n_a 15685193
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000148175 G1-to-S transition n_a n_a "epithelium, squamous cell, lymphocyte, leukocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, sarcoma"
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