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SAMD8 (sterile alpha motif domain containing 8)

Identity

Alias (NCBI)HEL-177
SMSr
HGNC (Hugo) SAMD8
HGNC Alias symbFLJ25082
SMSr
HGNC Alias namesphingomyelin synthase related
 ceramide phosphoethanolamine synthase
LocusID (NCBI) 142891
Atlas_Id 54599
Location 10q22.2  [Link to chromosome band 10q22]
Location_base_pair Starts at 75111656 and ends at 75182123 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)
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

 



External links

 

Nomenclature
HGNC (Hugo)SAMD8   26320
Cards
Entrez_Gene (NCBI)SAMD8    sterile alpha motif domain containing 8
AliasesHEL-177; SMSr
GeneCards (Weizmann)SAMD8
Ensembl hg19 (Hinxton)ENSG00000156671 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000156671 [Gene_View]  ENSG00000156671 [Sequence]  chr10:75111656-75182123 [Contig_View]  SAMD8 [Vega]
ICGC DataPortalENSG00000156671
TCGA cBioPortalSAMD8
AceView (NCBI)SAMD8
Genatlas (Paris)SAMD8
SOURCE (Princeton)SAMD8
Genetics Home Reference (NIH)SAMD8
Genomic and cartography
GoldenPath hg38 (UCSC)SAMD8  -     chr10:75111656-75182123 +  10q22.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SAMD8  -     10q22.2   [Description]    (hg19-Feb_2009)
GoldenPathSAMD8 - 10q22.2 [CytoView hg19]  SAMD8 - 10q22.2 [CytoView hg38]
ImmunoBaseENSG00000156671
Genome Data Viewer NCBISAMD8 [Mapview hg19]  
OMIM611575   
Gene and transcription
Genbank (Entrez)AK057811 BC080593 EU668332 GQ472208
RefSeq transcript (Entrez)NM_001174156 NM_144660
Consensus coding sequences : CCDS (NCBI)SAMD8
Gene ExpressionSAMD8 [ NCBI-GEO ]   SAMD8 [ EBI - ARRAY_EXPRESS ]   SAMD8 [ SEEK ]   SAMD8 [ MEM ]
Gene Expression Viewer (FireBrowse)SAMD8 [ Firebrowse - Broad ]
GenevisibleExpression of SAMD8 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)142891
GTEX Portal (Tissue expression)SAMD8
Human Protein AtlasENSG00000156671-SAMD8 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ96LT4
Domaine pattern : Prosite (Expaxy)SAM_DOMAIN (PS50105)   
Domains : Interpro (EBI)SAM    SAM/pointed_sf    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
SuperfamilyQ96LT4
AlphaFold pdb e-kbQ96LT4   
Human Protein Atlas [tissue]ENSG00000156671-SAMD8 [tissue]
HPRD18014
Protein Interaction databases
DIP (DOE-UCLA)Q96LT4
IntAct (EBI)Q96LT4
BioGRIDSAMD8
STRING (EMBL)SAMD8
ZODIACSAMD8
Ontologies - Pathways
QuickGOQ96LT4
Ontology : AmiGOceramide phosphoethanolamine synthase activity  molecular_function  endoplasmic reticulum  endoplasmic reticulum membrane  cytosol  integral component of plasma membrane  sphingomyelin biosynthetic process  integral component of membrane  sphingolipid biosynthetic process  integral component of Golgi membrane  integral component of endoplasmic reticulum membrane  integral component of endoplasmic reticulum membrane  sphingomyelin synthase activity  ceramide biosynthetic process  ceramide biosynthetic process  ceramide cholinephosphotransferase activity  ceramide phosphoethanolamine biosynthetic process  regulation of ceramide biosynthetic process  
Ontology : EGO-EBIceramide phosphoethanolamine synthase activity  molecular_function  endoplasmic reticulum  endoplasmic reticulum membrane  cytosol  integral component of plasma membrane  sphingomyelin biosynthetic process  integral component of membrane  sphingolipid biosynthetic process  integral component of Golgi membrane  integral component of endoplasmic reticulum membrane  integral component of endoplasmic reticulum membrane  sphingomyelin synthase activity  ceramide biosynthetic process  ceramide biosynthetic process  ceramide cholinephosphotransferase activity  ceramide phosphoethanolamine 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
Homologs : HomoloGeneSAMD8
Homology/Alignments : Family Browser (UCSC)SAMD8
Gene fusions - Rearrangements
Fusion : MitelmanSAMD8/KAT6B [10q22.2/10q22.2]  
Fusion : MitelmanSAMD8/LHX1 [10q22.2/17q12]  
Fusion : MitelmanTSPAN15/SAMD8 [10q22.1/10q22.2]  
Fusion : QuiverSAMD8
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSAMD8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SAMD8
dbVarSAMD8
ClinVarSAMD8
MonarchSAMD8
1000_GenomesSAMD8 
Exome Variant ServerSAMD8
GNOMAD BrowserENSG00000156671
Varsome BrowserSAMD8
ACMGSAMD8 variants
VarityQ96LT4
Genomic Variants (DGV)SAMD8 [DGVbeta]
DECIPHERSAMD8 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DSAMD8
Mutations and Diseases : HGMDSAMD8
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaSAMD8
DgiDB (Drug Gene Interaction Database)SAMD8
DoCM (Curated mutations)SAMD8
CIViC (Clinical Interpretations of Variants in Cancer)SAMD8
Cancer3DSAMD8
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611575   
Orphanet
DisGeNETSAMD8
MedgenSAMD8
Genetic Testing Registry SAMD8
NextProtQ96LT4 [Medical]
GENETestsSAMD8
Target ValidationSAMD8
Huge Navigator SAMD8 [HugePedia]
ClinGenSAMD8
Clinical trials, drugs, therapy
MyCancerGenomeSAMD8
Protein Interactions : CTDSAMD8
Pharm GKB GenePA134868247
PharosQ96LT4
Clinical trialSAMD8
Miscellaneous
canSAR (ICR)SAMD8
HarmonizomeSAMD8
DataMed IndexSAMD8
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSAMD8
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:30:02 CEST 2021

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