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TMEM97 (transmembrane protein 97)

Identity

Alias_symbol (synonym)MAC30
Other alias
HGNC (Hugo) TMEM97
LocusID (NCBI) 27346
Atlas_Id 45539
Location 17q11.2  [Link to chromosome band 17q11]
Location_base_pair Starts at 26646121 and ends at 26655711 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
PHF12 (17q11.2) / TMEM97 (17q11.2)TMEM222 (1p36.11) / TMEM97 (17q11.2)TMEM97 (17q11.2) / BLMH (17q11.2)
TMEM97 (17q11.2) / MFN2 (1p36.22)TMEM97 (17q11.2) / TMEM97 (17q11.2)PHF12 17q11.2 / TMEM97 17q11.2
TMEM97 17q11.2 / BLMH 17q11.2

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

 


External links

Nomenclature
HGNC (Hugo)TMEM97   28106
Cards
Entrez_Gene (NCBI)TMEM97  27346  transmembrane protein 97
AliasesMAC30
GeneCards (Weizmann)TMEM97
Ensembl hg19 (Hinxton)ENSG00000109084 [Gene_View]  chr17:26646121-26655711 [Contig_View]  TMEM97 [Vega]
Ensembl hg38 (Hinxton)ENSG00000109084 [Gene_View]  chr17:26646121-26655711 [Contig_View]  TMEM97 [Vega]
ICGC DataPortalENSG00000109084
TCGA cBioPortalTMEM97
AceView (NCBI)TMEM97
Genatlas (Paris)TMEM97
WikiGenes27346
SOURCE (Princeton)TMEM97
Genetics Home Reference (NIH)TMEM97
Genomic and cartography
GoldenPath hg19 (UCSC)TMEM97  -     chr17:26646121-26655711 +  17q11.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)TMEM97  -     17q11.2   [Description]    (hg38-Dec_2013)
EnsemblTMEM97 - 17q11.2 [CytoView hg19]  TMEM97 - 17q11.2 [CytoView hg38]
Mapping of homologs : NCBITMEM97 [Mapview hg19]  TMEM97 [Mapview hg38]
OMIM612912   
Gene and transcription
Genbank (Entrez)AK293331 AK299511 AK307678 BC017362 BC045655
RefSeq transcript (Entrez)NM_014573
RefSeq genomic (Entrez)NC_000017 NC_018928 NT_010783 NW_004929407
Consensus coding sequences : CCDS (NCBI)TMEM97
Cluster EST : UnigeneHs.199695 [ NCBI ]
CGAP (NCI)Hs.199695
Alternative Splicing GalleryENSG00000109084
Gene ExpressionTMEM97 [ NCBI-GEO ]   TMEM97 [ EBI - ARRAY_EXPRESS ]   TMEM97 [ SEEK ]   TMEM97 [ MEM ]
Gene Expression Viewer (FireBrowse)TMEM97 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)27346
GTEX Portal (Tissue expression)TMEM97
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5BJF2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5BJF2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5BJF2
Splice isoforms : SwissVarQ5BJF2
PhosPhoSitePlusQ5BJF2
Domaine pattern : Prosite (Expaxy)EXPERA (PS51751)   
Domains : Interpro (EBI)EXPERA    Transmembrane_97   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)TMEM97
DMDM Disease mutations27346
Blocks (Seattle)TMEM97
SuperfamilyQ5BJF2
Human Protein AtlasENSG00000109084
Peptide AtlasQ5BJF2
HPRD14343
IPIIPI00020004   IPI00395967   
Protein Interaction databases
DIP (DOE-UCLA)Q5BJF2
IntAct (EBI)Q5BJF2
FunCoupENSG00000109084
BioGRIDTMEM97
STRING (EMBL)TMEM97
ZODIACTMEM97
Ontologies - Pathways
QuickGOQ5BJF2
Ontology : AmiGOregulation of cell growth  protein binding  lysosome  rough endoplasmic reticulum  plasma membrane  integral component of membrane  nuclear membrane  cholesterol homeostasis  
Ontology : EGO-EBIregulation of cell growth  protein binding  lysosome  rough endoplasmic reticulum  plasma membrane  integral component of membrane  nuclear membrane  cholesterol homeostasis  
NDEx NetworkTMEM97
Atlas of Cancer Signalling NetworkTMEM97
Wikipedia pathwaysTMEM97
Orthology - Evolution
OrthoDB27346
GeneTree (enSembl)ENSG00000109084
Phylogenetic Trees/Animal Genes : TreeFamTMEM97
HOVERGENQ5BJF2
HOGENOMQ5BJF2
Homologs : HomoloGeneTMEM97
Homology/Alignments : Family Browser (UCSC)TMEM97
Gene fusions - Rearrangements
Fusion : MitelmanPHF12/TMEM97 [17q11.2/17q11.2]  [t(17;17)(q11;q11)]  
Fusion : MitelmanTMEM97/BLMH [17q11.2/17q11.2]  [t(17;17)(q11;q11)]  
Fusion: TCGAPHF12 17q11.2 TMEM97 17q11.2 LUAD
Fusion: TCGATMEM97 17q11.2 BLMH 17q11.2 PRAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMEM97 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMEM97
dbVarTMEM97
ClinVarTMEM97
1000_GenomesTMEM97 
Exome Variant ServerTMEM97
ExAC (Exome Aggregation Consortium)TMEM97 (select the gene name)
Genetic variants : HAPMAP27346
Genomic Variants (DGV)TMEM97 [DGVbeta]
DECIPHER (Syndromes)17:26646121-26655711  ENSG00000109084
CONAN: Copy Number AnalysisTMEM97 
Mutations
ICGC Data PortalTMEM97 
TCGA Data PortalTMEM97 
Broad Tumor PortalTMEM97
OASIS PortalTMEM97 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTMEM97  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTMEM97
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch TMEM97
DgiDB (Drug Gene Interaction Database)TMEM97
DoCM (Curated mutations)TMEM97 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TMEM97 (select a term)
intoGenTMEM97
Cancer3DTMEM97(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612912   
Orphanet
MedgenTMEM97
Genetic Testing Registry TMEM97
NextProtQ5BJF2 [Medical]
TSGene27346
GENETestsTMEM97
Huge Navigator TMEM97 [HugePedia]
snp3D : Map Gene to Disease27346
BioCentury BCIQTMEM97
ClinGenTMEM97
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD27346
Chemical/Pharm GKB GenePA143485635
Clinical trialTMEM97
Miscellaneous
canSAR (ICR)TMEM97 (select the gene name)
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTMEM97
EVEXTMEM97
GoPubMedTMEM97
iHOPTMEM97
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:31:32 CET 2017

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