Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SMPX (small muscle protein, X-linked)

Identity

Alias_namesDFN6
deafness, X-linked 6, sensorineural
Alias_symbol (synonym)DFNX4
Other alias
HGNC (Hugo) SMPX
LocusID (NCBI) 23676
Atlas_Id 73591
Location Xp22.12  [Link to chromosome band Xp22]
Location_base_pair Starts at 21705972 and ends at 21758160 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
SNAP91 (6q14.2) / SMPX (Xp22.12)

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)SMPX   11122
Cards
Entrez_Gene (NCBI)SMPX  23676  small muscle protein, X-linked
AliasesDFN6; DFNX4
GeneCards (Weizmann)SMPX
Ensembl hg19 (Hinxton)ENSG00000091482 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000091482 [Gene_View]  chrX:21705972-21758160 [Contig_View]  SMPX [Vega]
ICGC DataPortalENSG00000091482
TCGA cBioPortalSMPX
AceView (NCBI)SMPX
Genatlas (Paris)SMPX
WikiGenes23676
SOURCE (Princeton)SMPX
Genetics Home Reference (NIH)SMPX
Genomic and cartography
GoldenPath hg38 (UCSC)SMPX  -     chrX:21705972-21758160 -  Xp22.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SMPX  -     Xp22.12   [Description]    (hg19-Feb_2009)
EnsemblSMPX - Xp22.12 [CytoView hg19]  SMPX - Xp22.12 [CytoView hg38]
Mapping of homologs : NCBISMPX [Mapview hg19]  SMPX [Mapview hg38]
OMIM300066   300226   
Gene and transcription
Genbank (Entrez)AF129505 AJ250584 AK312134 BC005948 BF126275
RefSeq transcript (Entrez)NM_014332
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SMPX
Cluster EST : UnigeneHs.734084 [ NCBI ]
CGAP (NCI)Hs.734084
Alternative Splicing GalleryENSG00000091482
Gene ExpressionSMPX [ NCBI-GEO ]   SMPX [ EBI - ARRAY_EXPRESS ]   SMPX [ SEEK ]   SMPX [ MEM ]
Gene Expression Viewer (FireBrowse)SMPX [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23676
GTEX Portal (Tissue expression)SMPX
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UHP9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UHP9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UHP9
Splice isoforms : SwissVarQ9UHP9
PhosPhoSitePlusQ9UHP9
Domains : Interpro (EBI)Chisel   
Domain families : Pfam (Sanger)Chisel (PF15355)   
Domain families : Pfam (NCBI)pfam15355   
Domain structure : Prodom (Prabi Lyon)PD352676 (PD352676)   
Conserved Domain (NCBI)SMPX
DMDM Disease mutations23676
Blocks (Seattle)SMPX
SuperfamilyQ9UHP9
Human Protein AtlasENSG00000091482
Peptide AtlasQ9UHP9
HPRD02204
IPIIPI00005957   
Protein Interaction databases
DIP (DOE-UCLA)Q9UHP9
IntAct (EBI)Q9UHP9
FunCoupENSG00000091482
BioGRIDSMPX
STRING (EMBL)SMPX
ZODIACSMPX
Ontologies - Pathways
QuickGOQ9UHP9
Ontology : AmiGOnucleus  muscle tendon junction  striated muscle contraction  M band  costamere  
Ontology : EGO-EBInucleus  muscle tendon junction  striated muscle contraction  M band  costamere  
NDEx NetworkSMPX
Atlas of Cancer Signalling NetworkSMPX
Wikipedia pathwaysSMPX
Orthology - Evolution
OrthoDB23676
GeneTree (enSembl)ENSG00000091482
Phylogenetic Trees/Animal Genes : TreeFamSMPX
HOVERGENQ9UHP9
HOGENOMQ9UHP9
Homologs : HomoloGeneSMPX
Homology/Alignments : Family Browser (UCSC)SMPX
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSMPX [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMPX
dbVarSMPX
ClinVarSMPX
1000_GenomesSMPX 
Exome Variant ServerSMPX
ExAC (Exome Aggregation Consortium)SMPX (select the gene name)
Genetic variants : HAPMAP23676
Genomic Variants (DGV)SMPX [DGVbeta]
DECIPHERSMPX [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSMPX 
Mutations
ICGC Data PortalSMPX 
TCGA Data PortalSMPX 
Broad Tumor PortalSMPX
OASIS PortalSMPX [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSMPX  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSMPX
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SMPX
DgiDB (Drug Gene Interaction Database)SMPX
DoCM (Curated mutations)SMPX (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SMPX (select a term)
intoGenSMPX
Cancer3DSMPX(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300066    300226   
Orphanet12045   
MedgenSMPX
Genetic Testing Registry SMPX
NextProtQ9UHP9 [Medical]
TSGene23676
GENETestsSMPX
Target ValidationSMPX
Huge Navigator SMPX [HugePedia]
snp3D : Map Gene to Disease23676
BioCentury BCIQSMPX
ClinGenSMPX
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23676
Chemical/Pharm GKB GenePA35971
Clinical trialSMPX
Miscellaneous
canSAR (ICR)SMPX (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSMPX
EVEXSMPX
GoPubMedSMPX
iHOPSMPX
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed May 31 15:41:50 CEST 2017

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