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SFXN5 (sideroflexin 5)

Identity

Alias_symbol (synonym)BBG-TCC
Other alias
HGNC (Hugo) SFXN5
LocusID (NCBI) 94097
Atlas_Id 73177
Location 2p13.2  [Link to chromosome band 2p13]
Location_base_pair Starts at 72942036 and ends at 73071836 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)
EXOC6B (2p13.2) / SFXN5 (2p13.2)NCK2 (2q12.2) / SFXN5 (2p13.2)SFXN5 (2p13.2) / GTPBP1 (22q13.1)
SFXN5 (2p13.2) / MIAT (22q12.1)SFXN5 (2p13.2) / SNAP23 (15q15.1)EXOC6B SFXN5
NCK2 SFXN5

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)SFXN5   16073
Cards
Entrez_Gene (NCBI)SFXN5  94097  sideroflexin 5
AliasesBBG-TCC
GeneCards (Weizmann)SFXN5
Ensembl hg19 (Hinxton)ENSG00000144040 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000144040 [Gene_View]  chr2:72942036-73071836 [Contig_View]  SFXN5 [Vega]
ICGC DataPortalENSG00000144040
TCGA cBioPortalSFXN5
AceView (NCBI)SFXN5
Genatlas (Paris)SFXN5
WikiGenes94097
SOURCE (Princeton)SFXN5
Genetics Home Reference (NIH)SFXN5
Genomic and cartography
GoldenPath hg38 (UCSC)SFXN5  -     chr2:72942036-73071836 -  2p13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SFXN5  -     2p13.2   [Description]    (hg19-Feb_2009)
EnsemblSFXN5 - 2p13.2 [CytoView hg19]  SFXN5 - 2p13.2 [CytoView hg38]
Mapping of homologs : NCBISFXN5 [Mapview hg19]  SFXN5 [Mapview hg38]
OMIM615572   
Gene and transcription
Genbank (Entrez)AK024193 AK025170 AK094205 AK289731 AK294751
RefSeq transcript (Entrez)NM_001330400 NM_001330401 NM_001330402 NM_001330403 NM_001330404 NM_001330405 NM_001330406 NM_001330407 NM_001330408 NM_001330410 NM_001330411 NM_001330412 NM_144579
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SFXN5
Cluster EST : UnigeneHs.368171 [ NCBI ]
CGAP (NCI)Hs.368171
Alternative Splicing GalleryENSG00000144040
Gene ExpressionSFXN5 [ NCBI-GEO ]   SFXN5 [ EBI - ARRAY_EXPRESS ]   SFXN5 [ SEEK ]   SFXN5 [ MEM ]
Gene Expression Viewer (FireBrowse)SFXN5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)94097
GTEX Portal (Tissue expression)SFXN5
Human Protein AtlasENSG00000144040-SFXN5 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TD22   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TD22  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TD22
Splice isoforms : SwissVarQ8TD22
PhosPhoSitePlusQ8TD22
Domains : Interpro (EBI)Mtc   
Domain families : Pfam (Sanger)Mtc (PF03820)   
Domain families : Pfam (NCBI)pfam03820   
Conserved Domain (NCBI)SFXN5
DMDM Disease mutations94097
Blocks (Seattle)SFXN5
SuperfamilyQ8TD22
Human Protein Atlas [tissue]ENSG00000144040-SFXN5 [tissue]
Peptide AtlasQ8TD22
HPRD18047
IPIIPI00152426   IPI00884993   IPI00917770   IPI00917925   IPI00916873   IPI00917036   
Protein Interaction databases
DIP (DOE-UCLA)Q8TD22
IntAct (EBI)Q8TD22
FunCoupENSG00000144040
BioGRIDSFXN5
STRING (EMBL)SFXN5
ZODIACSFXN5
Ontologies - Pathways
QuickGOQ8TD22
Ontology : AmiGOmitochondrial inner membrane  citrate transmembrane transporter activity  citrate transport  integral component of membrane  ion transmembrane transport  iron ion homeostasis  
Ontology : EGO-EBImitochondrial inner membrane  citrate transmembrane transporter activity  citrate transport  integral component of membrane  ion transmembrane transport  iron ion homeostasis  
NDEx NetworkSFXN5
Atlas of Cancer Signalling NetworkSFXN5
Wikipedia pathwaysSFXN5
Orthology - Evolution
OrthoDB94097
GeneTree (enSembl)ENSG00000144040
Phylogenetic Trees/Animal Genes : TreeFamSFXN5
HOVERGENQ8TD22
HOGENOMQ8TD22
Homologs : HomoloGeneSFXN5
Homology/Alignments : Family Browser (UCSC)SFXN5
Gene fusions - Rearrangements
Fusion: TCGAEXOC6B SFXN5
Fusion: TCGANCK2 SFXN5
Fusion: Tumor Portal SFXN5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSFXN5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SFXN5
dbVarSFXN5
ClinVarSFXN5
1000_GenomesSFXN5 
Exome Variant ServerSFXN5
ExAC (Exome Aggregation Consortium)ENSG00000144040
GNOMAD BrowserENSG00000144040
Genetic variants : HAPMAP94097
Genomic Variants (DGV)SFXN5 [DGVbeta]
DECIPHERSFXN5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSFXN5 
Mutations
ICGC Data PortalSFXN5 
TCGA Data PortalSFXN5 
Broad Tumor PortalSFXN5
OASIS PortalSFXN5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSFXN5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSFXN5
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 SFXN5
DgiDB (Drug Gene Interaction Database)SFXN5
DoCM (Curated mutations)SFXN5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SFXN5 (select a term)
intoGenSFXN5
Cancer3DSFXN5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615572   
Orphanet
MedgenSFXN5
Genetic Testing Registry SFXN5
NextProtQ8TD22 [Medical]
TSGene94097
GENETestsSFXN5
Target ValidationSFXN5
Huge Navigator SFXN5 [HugePedia]
snp3D : Map Gene to Disease94097
BioCentury BCIQSFXN5
ClinGenSFXN5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD94097
Chemical/Pharm GKB GenePA38088
Clinical trialSFXN5
Miscellaneous
canSAR (ICR)SFXN5 (select the gene name)
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSFXN5
EVEXSFXN5
GoPubMedSFXN5
iHOPSFXN5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Nov 9 12:26:56 CET 2017

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