Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

TOMM40 (translocase of outer mitochondrial membrane 40)

Identity

Alias (NCBI)C19orf1
D19S1177E
PER-EC1
PEREC1
TOM40
HGNC (Hugo) TOMM40
HGNC Alias symbPEREC1
D19S1177E
C19orf1
TOM40
PER-EC1
HGNC Previous nametranslocase of outer mitochondrial membrane 40 homolog (yeast)
LocusID (NCBI) 10452
Atlas_Id 46484
Location 19q13.32  [Link to chromosome band 19q13]
Location_base_pair Starts at 44891254 and ends at 44903689 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)
LRTOMT (11q13.4) / TOMM40 (19q13.32)TOMM40 (19q13.32) / BCAP29 (7q22.3)TOMM40 (19q13.32) / CEACAM19 (19q13.31)
TOMM40 (19q13.32) / NECTIN2 (19q13.32)TOMM40 (19q13.32) / PDZRN4 (12q12)TOMM40 19q13.32 / PDZRN4 12q12
TOMM40 19q13.32 / PVRL2 19q13.32

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)TOMM40   18001
Cards
Entrez_Gene (NCBI)TOMM40    translocase of outer mitochondrial membrane 40
AliasesC19orf1; D19S1177E; PER-EC1; PEREC1; 
TOM40
GeneCards (Weizmann)TOMM40
Ensembl hg19 (Hinxton)ENSG00000130204 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000130204 [Gene_View]  ENSG00000130204 [Sequence]  chr19:44891254-44903689 [Contig_View]  TOMM40 [Vega]
ICGC DataPortalENSG00000130204
TCGA cBioPortalTOMM40
AceView (NCBI)TOMM40
Genatlas (Paris)TOMM40
SOURCE (Princeton)TOMM40
Genetics Home Reference (NIH)TOMM40
Genomic and cartography
GoldenPath hg38 (UCSC)TOMM40  -     chr19:44891254-44903689 +  19q13.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TOMM40  -     19q13.32   [Description]    (hg19-Feb_2009)
GoldenPathTOMM40 - 19q13.32 [CytoView hg19]  TOMM40 - 19q13.32 [CytoView hg38]
ImmunoBaseENSG00000130204
Genome Data Viewer NCBITOMM40 [Mapview hg19]  
OMIM608061   
Gene and transcription
Genbank (Entrez)AF043250 AF316398 AF316399 AF316401 AF316402
RefSeq transcript (Entrez)NM_001128916 NM_001128917 NM_006114
Consensus coding sequences : CCDS (NCBI)TOMM40
Gene ExpressionTOMM40 [ NCBI-GEO ]   TOMM40 [ EBI - ARRAY_EXPRESS ]   TOMM40 [ SEEK ]   TOMM40 [ MEM ]
Gene Expression Viewer (FireBrowse)TOMM40 [ Firebrowse - Broad ]
GenevisibleExpression of TOMM40 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10452
GTEX Portal (Tissue expression)TOMM40
Human Protein AtlasENSG00000130204-TOMM40 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO96008   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO96008  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO96008
PhosPhoSitePlusO96008
Domains : Interpro (EBI)Porin_dom_sf    Porin_Euk/Tom40    Tom40   
Domain families : Pfam (Sanger)Porin_3 (PF01459)   
Domain families : Pfam (NCBI)pfam01459   
Conserved Domain (NCBI)TOMM40
PDB (RSDB)7CK6   
PDB Europe7CK6   
PDB (PDBSum)7CK6   
PDB (IMB)7CK6   
Structural Biology KnowledgeBase7CK6   
SCOP (Structural Classification of Proteins)7CK6   
CATH (Classification of proteins structures)7CK6   
SuperfamilyO96008
AlphaFold pdb e-kbO96008   
Human Protein Atlas [tissue]ENSG00000130204-TOMM40 [tissue]
HPRD16274
Protein Interaction databases
DIP (DOE-UCLA)O96008
IntAct (EBI)O96008
BioGRIDTOMM40
STRING (EMBL)TOMM40
ZODIACTOMM40
Ontologies - Pathways
QuickGOO96008
Ontology : AmiGOprotein binding  mitochondrion  mitochondrion  mitochondrial outer membrane  mitochondrial outer membrane translocase complex  mitochondrial outer membrane translocase complex  mitochondrial inner membrane  cytosol  protein targeting to mitochondrion  protein targeting to mitochondrion  protein targeting to mitochondrion  ion transport  protein transmembrane transporter activity  protein transmembrane transporter activity  protein transmembrane transporter activity  porin activity  integral component of membrane  macroautophagy  protein import into mitochondrial matrix  integral component of mitochondrial outer membrane  mitochondria-associated endoplasmic reticulum membrane  pore complex  
Ontology : EGO-EBIprotein binding  mitochondrion  mitochondrion  mitochondrial outer membrane  mitochondrial outer membrane translocase complex  mitochondrial outer membrane translocase complex  mitochondrial inner membrane  cytosol  protein targeting to mitochondrion  protein targeting to mitochondrion  protein targeting to mitochondrion  ion transport  protein transmembrane transporter activity  protein transmembrane transporter activity  protein transmembrane transporter activity  porin activity  integral component of membrane  macroautophagy  protein import into mitochondrial matrix  integral component of mitochondrial outer membrane  mitochondria-associated endoplasmic reticulum membrane  pore complex  
Pathways : KEGGAmyotrophic lateral sclerosis (ALS)   
NDEx NetworkTOMM40
Atlas of Cancer Signalling NetworkTOMM40
Wikipedia pathwaysTOMM40
Orthology - Evolution
OrthoDB10452
GeneTree (enSembl)ENSG00000130204
Phylogenetic Trees/Animal Genes : TreeFamTOMM40
Homologs : HomoloGeneTOMM40
Homology/Alignments : Family Browser (UCSC)TOMM40
Gene fusions - Rearrangements
Fusion : MitelmanTOMM40/PDZRN4 [19q13.32/12q12]  
Fusion : MitelmanTOMM40/PVRL2 [19q13.32/19q13.32]  
Fusion : QuiverTOMM40
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTOMM40 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TOMM40
dbVarTOMM40
ClinVarTOMM40
MonarchTOMM40
1000_GenomesTOMM40 
Exome Variant ServerTOMM40
GNOMAD BrowserENSG00000130204
Varsome BrowserTOMM40
ACMGTOMM40 variants
VarityO96008
Genomic Variants (DGV)TOMM40 [DGVbeta]
DECIPHERTOMM40 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTOMM40 
Mutations
ICGC Data PortalTOMM40 
TCGA Data PortalTOMM40 
Broad Tumor PortalTOMM40
OASIS PortalTOMM40 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTOMM40  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTOMM40
Mutations and Diseases : HGMDTOMM40
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTOMM40
DgiDB (Drug Gene Interaction Database)TOMM40
DoCM (Curated mutations)TOMM40
CIViC (Clinical Interpretations of Variants in Cancer)TOMM40
Cancer3DTOMM40
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608061   
Orphanet
DisGeNETTOMM40
MedgenTOMM40
Genetic Testing Registry TOMM40
NextProtO96008 [Medical]
GENETestsTOMM40
Target ValidationTOMM40
Huge Navigator TOMM40 [HugePedia]
ClinGenTOMM40
Clinical trials, drugs, therapy
MyCancerGenomeTOMM40
Protein Interactions : CTDTOMM40
Pharm GKB GenePA38274
PharosO96008
Clinical trialTOMM40
Miscellaneous
canSAR (ICR)TOMM40
HarmonizomeTOMM40
DataMed IndexTOMM40
Probes
Litterature
PubMed173 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTOMM40
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 4 15:35:54 CEST 2021

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.