Atlas of Genetics and Cytogenetics in Oncology and Haematology

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TMEM100 (transmembrane protein 100)

Identity

Alias (NCBI)-
HGNC (Hugo) TMEM100
HGNC Alias symbFLJ10970
FLJ37856
LocusID (NCBI) 55273
Atlas_Id 52880
Location 17q22  [Link to chromosome band 17q22]
Location_base_pair Starts at 55719627 and ends at 55722864 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
SKAP1 (17q21.32) / TMEM100 (17q22)SKAP1 17q21.32 / TMEM100 17q22

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(17;17)(q21;q22) SKAP1/TMEM100

External links

Nomenclature
HGNC (Hugo)TMEM100   25607
Cards
Entrez_Gene (NCBI)TMEM100  55273  transmembrane protein 100
Aliases
GeneCards (Weizmann)TMEM100
Ensembl hg19 (Hinxton)ENSG00000166292 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000166292 [Gene_View]  ENSG00000166292 [Sequence]  chr17:55719627-55722864 [Contig_View]  TMEM100 [Vega]
ICGC DataPortalENSG00000166292
TCGA cBioPortalTMEM100
AceView (NCBI)TMEM100
Genatlas (Paris)TMEM100
WikiGenes55273
SOURCE (Princeton)TMEM100
Genetics Home Reference (NIH)TMEM100
Genomic and cartography
GoldenPath hg38 (UCSC)TMEM100  -     chr17:55719627-55722864 -  17q22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TMEM100  -     17q22   [Description]    (hg19-Feb_2009)
GoldenPathTMEM100 - 17q22 [CytoView hg19]  TMEM100 - 17q22 [CytoView hg38]
ImmunoBaseENSG00000166292
genome Data Viewer NCBITMEM100 [Mapview hg19]  
OMIM616334   
Gene and transcription
Genbank (Entrez)AK001832 AK095175 BC010128 BQ027747 CB152959
RefSeq transcript (Entrez)NM_001099640 NM_018286
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TMEM100
Alternative Splicing GalleryENSG00000166292
Gene ExpressionTMEM100 [ NCBI-GEO ]   TMEM100 [ EBI - ARRAY_EXPRESS ]   TMEM100 [ SEEK ]   TMEM100 [ MEM ]
Gene Expression Viewer (FireBrowse)TMEM100 [ Firebrowse - Broad ]
GenevisibleExpression of TMEM100 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55273
GTEX Portal (Tissue expression)TMEM100
Human Protein AtlasENSG00000166292-TMEM100 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NV29   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NV29  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NV29
Splice isoforms : SwissVarQ9NV29
PhosPhoSitePlusQ9NV29
Domains : Interpro (EBI)TMEM100   
Domain families : Pfam (Sanger)TMEM100 (PF16311)   
Domain families : Pfam (NCBI)pfam16311   
Conserved Domain (NCBI)TMEM100
DMDM Disease mutations55273
Blocks (Seattle)TMEM100
SuperfamilyQ9NV29
Human Protein Atlas [tissue]ENSG00000166292-TMEM100 [tissue]
Peptide AtlasQ9NV29
HPRD07719
IPIIPI00305416   
Protein Interaction databases
DIP (DOE-UCLA)Q9NV29
IntAct (EBI)Q9NV29
FunCoupENSG00000166292
BioGRIDTMEM100
STRING (EMBL)TMEM100
ZODIACTMEM100
Ontologies - Pathways
QuickGOQ9NV29
Ontology : AmiGOangiogenesis  vasculogenesis  in utero embryonic development  epithelial to mesenchymal transition involved in endocardial cushion formation  molecular_function  protein binding  endoplasmic reticulum  plasma membrane  plasma membrane  Notch signaling pathway  integral component of membrane  BMP signaling pathway  perikaryon  protein kinase B signaling  positive regulation of endothelial cell differentiation  perinuclear region of cytoplasm  regulation of calcium-mediated signaling  regulation of sensory perception of pain  arterial endothelial cell differentiation  cellular response to BMP stimulus  cellular response to BMP stimulus  positive regulation of vasculogenesis  
Ontology : EGO-EBIangiogenesis  vasculogenesis  in utero embryonic development  epithelial to mesenchymal transition involved in endocardial cushion formation  molecular_function  protein binding  endoplasmic reticulum  plasma membrane  plasma membrane  Notch signaling pathway  integral component of membrane  BMP signaling pathway  perikaryon  protein kinase B signaling  positive regulation of endothelial cell differentiation  perinuclear region of cytoplasm  regulation of calcium-mediated signaling  regulation of sensory perception of pain  arterial endothelial cell differentiation  cellular response to BMP stimulus  cellular response to BMP stimulus  positive regulation of vasculogenesis  
NDEx NetworkTMEM100
Atlas of Cancer Signalling NetworkTMEM100
Wikipedia pathwaysTMEM100
Orthology - Evolution
OrthoDB55273
GeneTree (enSembl)ENSG00000166292
Phylogenetic Trees/Animal Genes : TreeFamTMEM100
HOGENOMQ9NV29
Homologs : HomoloGeneTMEM100
Homology/Alignments : Family Browser (UCSC)TMEM100
Gene fusions - Rearrangements
Fusion : MitelmanSKAP1/TMEM100 [17q21.32/17q22]  
Fusion PortalSKAP1 17q21.32 TMEM100 17q22 BRCA
Fusion : QuiverTMEM100
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMEM100 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMEM100
dbVarTMEM100
ClinVarTMEM100
MonarchTMEM100
1000_GenomesTMEM100 
Exome Variant ServerTMEM100
GNOMAD BrowserENSG00000166292
Varsome BrowserTMEM100
Genetic variants : HAPMAP55273
Genomic Variants (DGV)TMEM100 [DGVbeta]
DECIPHERTMEM100 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTMEM100 
Mutations
ICGC Data PortalTMEM100 
TCGA Data PortalTMEM100 
Broad Tumor PortalTMEM100
OASIS PortalTMEM100 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTMEM100  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTMEM100
Mutations and Diseases : HGMDTMEM100
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch TMEM100
DgiDB (Drug Gene Interaction Database)TMEM100
DoCM (Curated mutations)TMEM100 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TMEM100 (select a term)
intoGenTMEM100
Cancer3DTMEM100(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616334   
Orphanet
DisGeNETTMEM100
MedgenTMEM100
Genetic Testing Registry TMEM100
NextProtQ9NV29 [Medical]
TSGene55273
GENETestsTMEM100
Target ValidationTMEM100
Huge Navigator TMEM100 [HugePedia]
snp3D : Map Gene to Disease55273
BioCentury BCIQTMEM100
ClinGenTMEM100
Clinical trials, drugs, therapy
Protein Interactions : CTD55273
Pharm GKB GenePA142670749
Clinical trialTMEM100
Miscellaneous
canSAR (ICR)TMEM100 (select the gene name)
HarmonizomeTMEM100
DataMed IndexTMEM100
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTMEM100
EVEXTMEM100
GoPubMedTMEM100
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 14 14:36:20 CEST 2020
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