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SMIM13 (small integral membrane protein 13)

Identity

Alias_namesC6orf228
chromosome 6 open reading frame 228
Other alias
HGNC (Hugo) SMIM13
LocusID (NCBI) 221710
Atlas_Id 73564
Location 6p24.2  [Link to chromosome band 6p24]
Location_base_pair Starts at 11094033 and ends at 11138736 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)
BOLA2 (16p11.2) / SMIM13 (6p24.2)SMIM13 (6p24.2) / TTLL5 (14q24.3)

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(6;14)(p24;q24) SMIM13/TTLL5


External links

Nomenclature
HGNC (Hugo)SMIM13   27356
Cards
Entrez_Gene (NCBI)SMIM13  221710  small integral membrane protein 13
AliasesC6orf228
GeneCards (Weizmann)SMIM13
Ensembl hg19 (Hinxton)ENSG00000224531 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000224531 [Gene_View]  ENSG00000224531 [Sequence]  chr6:11094033-11138736 [Contig_View]  SMIM13 [Vega]
ICGC DataPortalENSG00000224531
TCGA cBioPortalSMIM13
AceView (NCBI)SMIM13
Genatlas (Paris)SMIM13
WikiGenes221710
SOURCE (Princeton)SMIM13
Genetics Home Reference (NIH)SMIM13
Genomic and cartography
GoldenPath hg38 (UCSC)SMIM13  -     chr6:11094033-11138736 +  6p24.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SMIM13  -     6p24.2   [Description]    (hg19-Feb_2009)
EnsemblSMIM13 - 6p24.2 [CytoView hg19]  SMIM13 - 6p24.2 [CytoView hg38]
Mapping of homologs : NCBISMIM13 [Mapview hg19]  SMIM13 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AA724884 AJ420516 AK058186 AK129879 AK299804
RefSeq transcript (Entrez)NM_001135575
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SMIM13
Cluster EST : UnigeneHs.656600 [ NCBI ]
CGAP (NCI)Hs.656600
Alternative Splicing GalleryENSG00000224531
Gene ExpressionSMIM13 [ NCBI-GEO ]   SMIM13 [ EBI - ARRAY_EXPRESS ]   SMIM13 [ SEEK ]   SMIM13 [ MEM ]
Gene Expression Viewer (FireBrowse)SMIM13 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)221710
GTEX Portal (Tissue expression)SMIM13
Human Protein AtlasENSG00000224531-SMIM13 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP0DJ93   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP0DJ93  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP0DJ93
Splice isoforms : SwissVarP0DJ93
PhosPhoSitePlusP0DJ93
Domains : Interpro (EBI)DUF4750   
Domain families : Pfam (Sanger)DUF4750 (PF15938)   
Domain families : Pfam (NCBI)pfam15938   
Conserved Domain (NCBI)SMIM13
DMDM Disease mutations221710
Blocks (Seattle)SMIM13
SuperfamilyP0DJ93
Human Protein Atlas [tissue]ENSG00000224531-SMIM13 [tissue]
Peptide AtlasP0DJ93
IPIIPI00884400   IPI00914045   
Protein Interaction databases
DIP (DOE-UCLA)P0DJ93
IntAct (EBI)P0DJ93
FunCoupENSG00000224531
BioGRIDSMIM13
STRING (EMBL)SMIM13
ZODIACSMIM13
Ontologies - Pathways
QuickGOP0DJ93
Ontology : AmiGOintegral component of membrane  
Ontology : EGO-EBIintegral component of membrane  
NDEx NetworkSMIM13
Atlas of Cancer Signalling NetworkSMIM13
Wikipedia pathwaysSMIM13
Orthology - Evolution
OrthoDB221710
GeneTree (enSembl)ENSG00000224531
Phylogenetic Trees/Animal Genes : TreeFamSMIM13
HOVERGENP0DJ93
HOGENOMP0DJ93
Homologs : HomoloGeneSMIM13
Homology/Alignments : Family Browser (UCSC)SMIM13
Gene fusions - Rearrangements
Fusion : QuiverSMIM13
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSMIM13 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMIM13
dbVarSMIM13
ClinVarSMIM13
1000_GenomesSMIM13 
Exome Variant ServerSMIM13
ExAC (Exome Aggregation Consortium)ENSG00000224531
GNOMAD BrowserENSG00000224531
Varsome BrowserSMIM13
Genetic variants : HAPMAP221710
Genomic Variants (DGV)SMIM13 [DGVbeta]
DECIPHERSMIM13 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSMIM13 
Mutations
ICGC Data PortalSMIM13 
TCGA Data PortalSMIM13 
Broad Tumor PortalSMIM13
OASIS PortalSMIM13 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDSMIM13
BioMutasearch SMIM13
DgiDB (Drug Gene Interaction Database)SMIM13
DoCM (Curated mutations)SMIM13 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SMIM13 (select a term)
intoGenSMIM13
Cancer3DSMIM13(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETSMIM13
MedgenSMIM13
Genetic Testing Registry SMIM13
NextProtP0DJ93 [Medical]
TSGene221710
GENETestsSMIM13
Target ValidationSMIM13
Huge Navigator SMIM13 [HugePedia]
snp3D : Map Gene to Disease221710
BioCentury BCIQSMIM13
ClinGenSMIM13
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD221710
Chemical/Pharm GKB GenePA166048980
Clinical trialSMIM13
Miscellaneous
canSAR (ICR)SMIM13 (select the gene name)
Probes
Litterature
PubMed2 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSMIM13
EVEXSMIM13
GoPubMedSMIM13
iHOPSMIM13
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Jul 30 14:29:59 CEST 2018

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