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SAMD8 (sterile alpha motif domain containing 8)

Identity

Alias_symbol (synonym)FLJ25082
SMSr
Other aliasHEL-177
HGNC (Hugo) SAMD8
LocusID (NCBI) 142891
Atlas_Id 54599
Location 10q22.2  [Link to chromosome band 10q22]
Location_base_pair Starts at 76871393 and ends at 76941881 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
SAMD8 (10q22.2) / DUSP13 (10q22.2)SAMD8 (10q22.2) / KAT6B (10q22.2)SAMD8 (10q22.2) / LHX1 (17q12)
TSPAN15 (10q22.1) / SAMD8 (10q22.2)SAMD8 10q22.2 / KAT6B 10q22.2TSPAN15 10q22.1 / SAMD8 10q22.2

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 ]
  Lung: Translocations in Squamous Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)SAMD8   26320
Cards
Entrez_Gene (NCBI)SAMD8  142891  sterile alpha motif domain containing 8
AliasesHEL-177; SMSr
GeneCards (Weizmann)SAMD8
Ensembl hg19 (Hinxton)ENSG00000156671 [Gene_View]  chr10:76871393-76941881 [Contig_View]  SAMD8 [Vega]
Ensembl hg38 (Hinxton)ENSG00000156671 [Gene_View]  chr10:76871393-76941881 [Contig_View]  SAMD8 [Vega]
ICGC DataPortalENSG00000156671
TCGA cBioPortalSAMD8
AceView (NCBI)SAMD8
Genatlas (Paris)SAMD8
WikiGenes142891
SOURCE (Princeton)SAMD8
Genetics Home Reference (NIH)SAMD8
Genomic and cartography
GoldenPath hg19 (UCSC)SAMD8  -     chr10:76871393-76941881 +  10q22.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SAMD8  -     10q22.2   [Description]    (hg38-Dec_2013)
EnsemblSAMD8 - 10q22.2 [CytoView hg19]  SAMD8 - 10q22.2 [CytoView hg38]
Mapping of homologs : NCBISAMD8 [Mapview hg19]  SAMD8 [Mapview hg38]
OMIM611575   
Gene and transcription
Genbank (Entrez)AK057811 BC080593 BC140219 BC146556 EU668332
RefSeq transcript (Entrez)NM_001174156 NM_144660
RefSeq genomic (Entrez)NC_000010 NC_018921 NT_030059 NW_004929376
Consensus coding sequences : CCDS (NCBI)SAMD8
Cluster EST : UnigeneHs.744986 [ NCBI ]
CGAP (NCI)Hs.744986
Alternative Splicing GalleryENSG00000156671
Gene ExpressionSAMD8 [ NCBI-GEO ]   SAMD8 [ EBI - ARRAY_EXPRESS ]   SAMD8 [ SEEK ]   SAMD8 [ MEM ]
Gene Expression Viewer (FireBrowse)SAMD8 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)142891
GTEX Portal (Tissue expression)SAMD8
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96LT4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96LT4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96LT4
Splice isoforms : SwissVarQ96LT4
Catalytic activity : Enzyme2.7.8.- [ Enzyme-Expasy ]   2.7.8.-2.7.8.- [ IntEnz-EBI ]   2.7.8.- [ BRENDA ]   2.7.8.- [ KEGG ]   
PhosPhoSitePlusQ96LT4
Domaine pattern : Prosite (Expaxy)SAM_DOMAIN (PS50105)   
Domains : Interpro (EBI)SAM    SAM/pointed    Sphingomyelin_synth-like_dom   
Domain families : Pfam (Sanger)PAP2_C (PF14360)    SAM_1 (PF00536)   
Domain families : Pfam (NCBI)pfam14360    pfam00536   
Domain families : Smart (EMBL)SAM (SM00454)  
Conserved Domain (NCBI)SAMD8
DMDM Disease mutations142891
Blocks (Seattle)SAMD8
SuperfamilyQ96LT4
Human Protein AtlasENSG00000156671
Peptide AtlasQ96LT4
HPRD18014
IPIIPI00550225   IPI00165639   IPI00642891   
Protein Interaction databases
DIP (DOE-UCLA)Q96LT4
IntAct (EBI)Q96LT4
FunCoupENSG00000156671
BioGRIDSAMD8
STRING (EMBL)SAMD8
ZODIACSAMD8
Ontologies - Pathways
QuickGOQ96LT4
Ontology : AmiGOmolecular_function  sphingomyelin biosynthetic process  integral component of membrane  transferase activity  integral component of endoplasmic reticulum membrane  ceramide biosynthetic process  regulation of ceramide biosynthetic process  
Ontology : EGO-EBImolecular_function  sphingomyelin biosynthetic process  integral component of membrane  transferase activity  integral component of endoplasmic reticulum membrane  ceramide biosynthetic process  regulation of ceramide biosynthetic process  
NDEx NetworkSAMD8
Atlas of Cancer Signalling NetworkSAMD8
Wikipedia pathwaysSAMD8
Orthology - Evolution
OrthoDB142891
GeneTree (enSembl)ENSG00000156671
Phylogenetic Trees/Animal Genes : TreeFamSAMD8
HOVERGENQ96LT4
HOGENOMQ96LT4
Homologs : HomoloGeneSAMD8
Homology/Alignments : Family Browser (UCSC)SAMD8
Gene fusions - Rearrangements
Fusion : MitelmanSAMD8/KAT6B [10q22.2/10q22.2]  
Fusion : MitelmanSAMD8/LHX1 [10q22.2/17q12]  [t(10;17)(q22;q12)]  
Fusion : MitelmanTSPAN15/SAMD8 [10q22.1/10q22.2]  [t(10;10)(q22;q22)]  
Fusion: TCGASAMD8 10q22.2 KAT6B 10q22.2 LUAD
Fusion: TCGATSPAN15 10q22.1 SAMD8 10q22.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSAMD8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SAMD8
dbVarSAMD8
ClinVarSAMD8
1000_GenomesSAMD8 
Exome Variant ServerSAMD8
ExAC (Exome Aggregation Consortium)SAMD8 (select the gene name)
Genetic variants : HAPMAP142891
Genomic Variants (DGV)SAMD8 [DGVbeta]
DECIPHER (Syndromes)10:76871393-76941881  ENSG00000156671
CONAN: Copy Number AnalysisSAMD8 
Mutations
ICGC Data PortalSAMD8 
TCGA Data PortalSAMD8 
Broad Tumor PortalSAMD8
OASIS PortalSAMD8 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSAMD8  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSAMD8
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SAMD8
DgiDB (Drug Gene Interaction Database)SAMD8
DoCM (Curated mutations)SAMD8 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SAMD8 (select a term)
intoGenSAMD8
Cancer3DSAMD8(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611575   
Orphanet
MedgenSAMD8
Genetic Testing Registry SAMD8
NextProtQ96LT4 [Medical]
TSGene142891
GENETestsSAMD8
Huge Navigator SAMD8 [HugePedia]
snp3D : Map Gene to Disease142891
BioCentury BCIQSAMD8
ClinGenSAMD8
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD142891
Chemical/Pharm GKB GenePA134868247
Clinical trialSAMD8
Miscellaneous
canSAR (ICR)SAMD8 (select the gene name)
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSAMD8
EVEXSAMD8
GoPubMedSAMD8
iHOPSAMD8
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 : Tue Mar 14 13:26:08 CET 2017

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