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SAMM50 (SAMM50 sorting and assembly machinery component)

Identity

Alias_namessorting and assembly machinery component 50 homolog (S. cerevisiae)
Alias_symbol (synonym)CGI-51
TRG-3
YNL026W
OMP85
TOB55
SAM50
Other alias
HGNC (Hugo) SAMM50
LocusID (NCBI) 25813
Atlas_Id 72972
Location 22q13.31  [Link to chromosome band 22q13]
Location_base_pair Starts at 43955381 and ends at 43996532 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
DDX56 (7p13) / SAMM50 (22q13.31)HNRNPAB (5q35.3) / SAMM50 (22q13.31)PARVB (22q13.31) / SAMM50 (22q13.31)
SAMM50 (22q13.31) / UNC5B (10q22.1)PARVB SAMM50HNRNPAB SAMM50

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)SAMM50   24276
Cards
Entrez_Gene (NCBI)SAMM50  25813  SAMM50 sorting and assembly machinery component
AliasesCGI-51; OMP85; SAM50; TOB55; 
TRG-3; YNL026W
GeneCards (Weizmann)SAMM50
Ensembl hg19 (Hinxton)ENSG00000100347 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100347 [Gene_View]  chr22:43955381-43996532 [Contig_View]  SAMM50 [Vega]
ICGC DataPortalENSG00000100347
TCGA cBioPortalSAMM50
AceView (NCBI)SAMM50
Genatlas (Paris)SAMM50
WikiGenes25813
SOURCE (Princeton)SAMM50
Genetics Home Reference (NIH)SAMM50
Genomic and cartography
GoldenPath hg38 (UCSC)SAMM50  -     chr22:43955381-43996532 +  22q13.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SAMM50  -     22q13.31   [Description]    (hg19-Feb_2009)
EnsemblSAMM50 - 22q13.31 [CytoView hg19]  SAMM50 - 22q13.31 [CytoView hg38]
Mapping of homologs : NCBISAMM50 [Mapview hg19]  SAMM50 [Mapview hg38]
OMIM612058   
Gene and transcription
Genbank (Entrez)AF151809 AK001087 AK091282 AK093144 AK097015
RefSeq transcript (Entrez)NM_015380
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SAMM50
Cluster EST : UnigeneHs.505824 [ NCBI ]
CGAP (NCI)Hs.505824
Alternative Splicing GalleryENSG00000100347
Gene ExpressionSAMM50 [ NCBI-GEO ]   SAMM50 [ EBI - ARRAY_EXPRESS ]   SAMM50 [ SEEK ]   SAMM50 [ MEM ]
Gene Expression Viewer (FireBrowse)SAMM50 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)25813
GTEX Portal (Tissue expression)SAMM50
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y512   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y512  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y512
Splice isoforms : SwissVarQ9Y512
PhosPhoSitePlusQ9Y512
Domaine pattern : Prosite (Expaxy)POTRA (PS51779)   
Domains : Interpro (EBI)Bac_surfAg_D15   
Domain families : Pfam (Sanger)Bac_surface_Ag (PF01103)   
Domain families : Pfam (NCBI)pfam01103   
Conserved Domain (NCBI)SAMM50
DMDM Disease mutations25813
Blocks (Seattle)SAMM50
SuperfamilyQ9Y512
Human Protein AtlasENSG00000100347
Peptide AtlasQ9Y512
HPRD10826
IPIIPI00412713   IPI01018135   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y512
IntAct (EBI)Q9Y512
FunCoupENSG00000100347
BioGRIDSAMM50
STRING (EMBL)SAMM50
ZODIACSAMM50
Ontologies - Pathways
QuickGOQ9Y512
Ontology : AmiGOmitochondrial sorting and assembly machinery complex  protein binding  mitochondrion  mitochondrial outer membrane  mitochondrial inner membrane  integral component of membrane  mitochondrial respiratory chain complex assembly  cristae formation  protein import into mitochondrial outer membrane  extracellular exosome  
Ontology : EGO-EBImitochondrial sorting and assembly machinery complex  protein binding  mitochondrion  mitochondrial outer membrane  mitochondrial inner membrane  integral component of membrane  mitochondrial respiratory chain complex assembly  cristae formation  protein import into mitochondrial outer membrane  extracellular exosome  
NDEx NetworkSAMM50
Atlas of Cancer Signalling NetworkSAMM50
Wikipedia pathwaysSAMM50
Orthology - Evolution
OrthoDB25813
GeneTree (enSembl)ENSG00000100347
Phylogenetic Trees/Animal Genes : TreeFamSAMM50
HOVERGENQ9Y512
HOGENOMQ9Y512
Homologs : HomoloGeneSAMM50
Homology/Alignments : Family Browser (UCSC)SAMM50
Gene fusions - Rearrangements
Fusion: TCGAPARVB SAMM50
Fusion: TCGAHNRNPAB SAMM50
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSAMM50 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SAMM50
dbVarSAMM50
ClinVarSAMM50
1000_GenomesSAMM50 
Exome Variant ServerSAMM50
ExAC (Exome Aggregation Consortium)SAMM50 (select the gene name)
Genetic variants : HAPMAP25813
Genomic Variants (DGV)SAMM50 [DGVbeta]
DECIPHERSAMM50 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSAMM50 
Mutations
ICGC Data PortalSAMM50 
TCGA Data PortalSAMM50 
Broad Tumor PortalSAMM50
OASIS PortalSAMM50 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSAMM50  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSAMM50
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 SAMM50
DgiDB (Drug Gene Interaction Database)SAMM50
DoCM (Curated mutations)SAMM50 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SAMM50 (select a term)
intoGenSAMM50
Cancer3DSAMM50(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612058   
Orphanet
MedgenSAMM50
Genetic Testing Registry SAMM50
NextProtQ9Y512 [Medical]
TSGene25813
GENETestsSAMM50
Target ValidationSAMM50
Huge Navigator SAMM50 [HugePedia]
snp3D : Map Gene to Disease25813
BioCentury BCIQSAMM50
ClinGenSAMM50
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD25813
Chemical/Pharm GKB GenePA142670954
Clinical trialSAMM50
Miscellaneous
canSAR (ICR)SAMM50 (select the gene name)
Probes
Litterature
PubMed44 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSAMM50
EVEXSAMM50
GoPubMedSAMM50
iHOPSAMM50
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 15:39:50 CEST 2017

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