Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SLC25A30 (solute carrier family 25 member 30)

Identity

Alias_namessolute carrier family 25, member 30
Other aliasKMCP1
HGNC (Hugo) SLC25A30
LocusID (NCBI) 253512
Atlas_Id 73352
Location 13q14.13  [Link to chromosome band 13q14]
Location_base_pair Starts at 45393319 and ends at 45418455 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)

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)SLC25A30   27371
Cards
Entrez_Gene (NCBI)SLC25A30  253512  solute carrier family 25 member 30
AliasesKMCP1
GeneCards (Weizmann)SLC25A30
Ensembl hg19 (Hinxton)ENSG00000174032 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000174032 [Gene_View]  chr13:45393319-45418455 [Contig_View]  SLC25A30 [Vega]
ICGC DataPortalENSG00000174032
TCGA cBioPortalSLC25A30
AceView (NCBI)SLC25A30
Genatlas (Paris)SLC25A30
WikiGenes253512
SOURCE (Princeton)SLC25A30
Genetics Home Reference (NIH)SLC25A30
Genomic and cartography
GoldenPath hg38 (UCSC)SLC25A30  -     chr13:45393319-45418455 -  13q14.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SLC25A30  -     13q14.13   [Description]    (hg19-Feb_2009)
EnsemblSLC25A30 - 13q14.13 [CytoView hg19]  SLC25A30 - 13q14.13 [CytoView hg38]
Mapping of homologs : NCBISLC25A30 [Mapview hg19]  SLC25A30 [Mapview hg38]
OMIM610793   
Gene and transcription
Genbank (Entrez)AK074457 AK094133 AK095465 AK302967 AL832206
RefSeq transcript (Entrez)NM_001010875 NM_001286806 NM_001286807
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SLC25A30
Cluster EST : UnigeneHs.591230 [ NCBI ]
CGAP (NCI)Hs.591230
Alternative Splicing GalleryENSG00000174032
Gene ExpressionSLC25A30 [ NCBI-GEO ]   SLC25A30 [ EBI - ARRAY_EXPRESS ]   SLC25A30 [ SEEK ]   SLC25A30 [ MEM ]
Gene Expression Viewer (FireBrowse)SLC25A30 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)253512
GTEX Portal (Tissue expression)SLC25A30
Human Protein AtlasENSG00000174032-SLC25A30 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5SVS4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5SVS4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5SVS4
Splice isoforms : SwissVarQ5SVS4
PhosPhoSitePlusQ5SVS4
Domaine pattern : Prosite (Expaxy)SOLCAR (PS50920)   
Domains : Interpro (EBI)Mit_uncoupling    Mitochondrial_sb/sol_carrier    Mt_carrier_dom   
Domain families : Pfam (Sanger)Mito_carr (PF00153)   
Domain families : Pfam (NCBI)pfam00153   
Conserved Domain (NCBI)SLC25A30
DMDM Disease mutations253512
Blocks (Seattle)SLC25A30
SuperfamilyQ5SVS4
Human Protein Atlas [tissue]ENSG00000174032-SLC25A30 [tissue]
Peptide AtlasQ5SVS4
HPRD18056
IPIIPI00179034   IPI00980361   IPI00979605   IPI00965693   
Protein Interaction databases
DIP (DOE-UCLA)Q5SVS4
IntAct (EBI)Q5SVS4
FunCoupENSG00000174032
BioGRIDSLC25A30
STRING (EMBL)SLC25A30
ZODIACSLC25A30
Ontologies - Pathways
QuickGOQ5SVS4
Ontology : AmiGOmolecular_function  mitochondrion  mitochondrial inner membrane  mitochondrial transport  biological_process  integral component of membrane  transmembrane transporter activity  transmembrane transport  
Ontology : EGO-EBImolecular_function  mitochondrion  mitochondrial inner membrane  mitochondrial transport  biological_process  integral component of membrane  transmembrane transporter activity  transmembrane transport  
NDEx NetworkSLC25A30
Atlas of Cancer Signalling NetworkSLC25A30
Wikipedia pathwaysSLC25A30
Orthology - Evolution
OrthoDB253512
GeneTree (enSembl)ENSG00000174032
Phylogenetic Trees/Animal Genes : TreeFamSLC25A30
HOVERGENQ5SVS4
HOGENOMQ5SVS4
Homologs : HomoloGeneSLC25A30
Homology/Alignments : Family Browser (UCSC)SLC25A30
Gene fusions - Rearrangements
Tumor Fusion PortalSLC25A30
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSLC25A30 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC25A30
dbVarSLC25A30
ClinVarSLC25A30
1000_GenomesSLC25A30 
Exome Variant ServerSLC25A30
ExAC (Exome Aggregation Consortium)ENSG00000174032
GNOMAD BrowserENSG00000174032
Genetic variants : HAPMAP253512
Genomic Variants (DGV)SLC25A30 [DGVbeta]
DECIPHERSLC25A30 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSLC25A30 
Mutations
ICGC Data PortalSLC25A30 
TCGA Data PortalSLC25A30 
Broad Tumor PortalSLC25A30
OASIS PortalSLC25A30 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSLC25A30  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSLC25A30
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch SLC25A30
DgiDB (Drug Gene Interaction Database)SLC25A30
DoCM (Curated mutations)SLC25A30 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SLC25A30 (select a term)
intoGenSLC25A30
Cancer3DSLC25A30(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610793   
Orphanet
DisGeNETSLC25A30
MedgenSLC25A30
Genetic Testing Registry SLC25A30
NextProtQ5SVS4 [Medical]
TSGene253512
GENETestsSLC25A30
Target ValidationSLC25A30
Huge Navigator SLC25A30 [HugePedia]
snp3D : Map Gene to Disease253512
BioCentury BCIQSLC25A30
ClinGenSLC25A30
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD253512
Chemical/Pharm GKB GenePA134931353
Clinical trialSLC25A30
Miscellaneous
canSAR (ICR)SLC25A30 (select the gene name)
Probes
Litterature
PubMed7 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSLC25A30
EVEXSLC25A30
GoPubMedSLC25A30
iHOPSLC25A30
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 13:28:56 CET 2017

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