Atlas of Genetics and Cytogenetics in Oncology and Haematology

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SMCR8 (SMCR8-C9orf72 complex subunit)

Identity

Alias (NCBI)DENND8A
HGNC (Hugo) SMCR8
HGNC Alias symbFLJ34716
LocusID (NCBI) 140775
Atlas_Id 73546
Location 17p11.2  [Link to chromosome band 17p11]
Location_base_pair Starts at 18315280 and ends at 18328056 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)
LBH (2p23.1) / SMCR8 (17p11.2)

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)SMCR8   17921
Cards
Entrez_Gene (NCBI)SMCR8  140775  SMCR8-C9orf72 complex subunit
AliasesDENND8A
GeneCards (Weizmann)SMCR8
Ensembl hg19 (Hinxton)ENSG00000176994 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000176994 [Gene_View]  ENSG00000176994 [Sequence]  chr17:18315280-18328056 [Contig_View]  SMCR8 [Vega]
ICGC DataPortalENSG00000176994
TCGA cBioPortalSMCR8
AceView (NCBI)SMCR8
Genatlas (Paris)SMCR8
WikiGenes140775
SOURCE (Princeton)SMCR8
Genetics Home Reference (NIH)SMCR8
Genomic and cartography
GoldenPath hg38 (UCSC)SMCR8  -     chr17:18315280-18328056 +  17p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SMCR8  -     17p11.2   [Description]    (hg19-Feb_2009)
GoldenPathSMCR8 - 17p11.2 [CytoView hg19]  SMCR8 - 17p11.2 [CytoView hg38]
ImmunoBaseENSG00000176994
genome Data Viewer NCBISMCR8 [Mapview hg19]  
OMIM617074   
Gene and transcription
Genbank (Entrez)AF467440 AK092035 AK296847 BC001018 BC005067
RefSeq transcript (Entrez)NM_144775
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SMCR8
Alternative Splicing GalleryENSG00000176994
Gene ExpressionSMCR8 [ NCBI-GEO ]   SMCR8 [ EBI - ARRAY_EXPRESS ]   SMCR8 [ SEEK ]   SMCR8 [ MEM ]
Gene Expression Viewer (FireBrowse)SMCR8 [ Firebrowse - Broad ]
GenevisibleExpression of SMCR8 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)140775
GTEX Portal (Tissue expression)SMCR8
Human Protein AtlasENSG00000176994-SMCR8 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TEV9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TEV9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TEV9
Splice isoforms : SwissVarQ8TEV9
PhosPhoSitePlusQ8TEV9
Domaine pattern : Prosite (Expaxy)DENN_FLCN_SMCR8 (PS51834)   
Domains : Interpro (EBI)FLCN/SMCR8_DENN    Folliculin/SMCR8_N   
Domain families : Pfam (Sanger)Folliculin (PF11704)   
Domain families : Pfam (NCBI)pfam11704   
Conserved Domain (NCBI)SMCR8
DMDM Disease mutations140775
Blocks (Seattle)SMCR8
SuperfamilyQ8TEV9
Human Protein Atlas [tissue]ENSG00000176994-SMCR8 [tissue]
Peptide AtlasQ8TEV9
HPRD18075
IPIIPI00152863   IPI00845255   IPI00978760   
Protein Interaction databases
DIP (DOE-UCLA)Q8TEV9
IntAct (EBI)Q8TEV9
FunCoupENSG00000176994
BioGRIDSMCR8
STRING (EMBL)SMCR8
ZODIACSMCR8
Ontologies - Pathways
QuickGOQ8TEV9
Ontology : AmiGOchromatin  protein kinase inhibitor activity  protein binding  nucleoplasm  cytoplasm  negative regulation of protein kinase activity  autophagy  regulation of autophagy  negative regulation of gene expression  negative regulation of macroautophagy  Rab guanyl-nucleotide exchange factor activity  Rab guanyl-nucleotide exchange factor activity  protein kinase binding  positive regulation of TOR signaling  guanyl-nucleotide exchange factor complex  guanyl-nucleotide exchange factor complex  positive regulation of autophagosome maturation  negative regulation of autophagosome assembly  regulation of TORC1 signaling  Atg1/ULK1 kinase complex  Atg1/ULK1 kinase complex  
Ontology : EGO-EBIchromatin  protein kinase inhibitor activity  protein binding  nucleoplasm  cytoplasm  negative regulation of protein kinase activity  autophagy  regulation of autophagy  negative regulation of gene expression  negative regulation of macroautophagy  Rab guanyl-nucleotide exchange factor activity  Rab guanyl-nucleotide exchange factor activity  protein kinase binding  positive regulation of TOR signaling  guanyl-nucleotide exchange factor complex  guanyl-nucleotide exchange factor complex  positive regulation of autophagosome maturation  negative regulation of autophagosome assembly  regulation of TORC1 signaling  Atg1/ULK1 kinase complex  Atg1/ULK1 kinase complex  
NDEx NetworkSMCR8
Atlas of Cancer Signalling NetworkSMCR8
Wikipedia pathwaysSMCR8
Orthology - Evolution
OrthoDB140775
GeneTree (enSembl)ENSG00000176994
Phylogenetic Trees/Animal Genes : TreeFamSMCR8
HOGENOMQ8TEV9
Homologs : HomoloGeneSMCR8
Homology/Alignments : Family Browser (UCSC)SMCR8
Gene fusions - Rearrangements
Fusion : QuiverSMCR8
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSMCR8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMCR8
dbVarSMCR8
ClinVarSMCR8
1000_GenomesSMCR8 
Exome Variant ServerSMCR8
GNOMAD BrowserENSG00000176994
Varsome BrowserSMCR8
Genetic variants : HAPMAP140775
Genomic Variants (DGV)SMCR8 [DGVbeta]
DECIPHERSMCR8 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSMCR8 
Mutations
ICGC Data PortalSMCR8 
TCGA Data PortalSMCR8 
Broad Tumor PortalSMCR8
OASIS PortalSMCR8 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSMCR8  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSMCR8
Mutations and Diseases : HGMDSMCR8
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
BioMutasearch SMCR8
DgiDB (Drug Gene Interaction Database)SMCR8
DoCM (Curated mutations)SMCR8 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SMCR8 (select a term)
intoGenSMCR8
Cancer3DSMCR8(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM617074   
Orphanet
DisGeNETSMCR8
MedgenSMCR8
Genetic Testing Registry SMCR8
NextProtQ8TEV9 [Medical]
TSGene140775
GENETestsSMCR8
Target ValidationSMCR8
Huge Navigator SMCR8 [HugePedia]
snp3D : Map Gene to Disease140775
BioCentury BCIQSMCR8
ClinGenSMCR8
Clinical trials, drugs, therapy
Protein Interactions : CTD140775
Pharm GKB GenePA38266
Clinical trialSMCR8
Miscellaneous
canSAR (ICR)SMCR8 (select the gene name)
HarmonizomeSMCR8
DataMed IndexSMCR8
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSMCR8
EVEXSMCR8
GoPubMedSMCR8
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Aug 22 19:34:55 CEST 2020
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