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SMIM7 (small integral membrane protein 7)

Identity

Alias_namesC19orf42
chromosome 19 open reading frame 42
Alias_symbol (synonym)MGC2747
Other alias
HGNC (Hugo) SMIM7
LocusID (NCBI) 79086
Atlas_Id 73582
Location 19p13.11  [Link to chromosome band 19p13]
Location_base_pair Starts at 16652356 and ends at 16660157 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)
ELL (19p13.11) / SMIM7 (19p13.11)

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)SMIM7   28419
Cards
Entrez_Gene (NCBI)SMIM7  79086  small integral membrane protein 7
AliasesC19orf42
GeneCards (Weizmann)SMIM7
Ensembl hg19 (Hinxton)ENSG00000214046 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000214046 [Gene_View]  chr19:16652356-16660157 [Contig_View]  SMIM7 [Vega]
ICGC DataPortalENSG00000214046
TCGA cBioPortalSMIM7
AceView (NCBI)SMIM7
Genatlas (Paris)SMIM7
WikiGenes79086
SOURCE (Princeton)SMIM7
Genetics Home Reference (NIH)SMIM7
Genomic and cartography
GoldenPath hg38 (UCSC)SMIM7  -     chr19:16652356-16660157 -  19p13.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SMIM7  -     19p13.11   [Description]    (hg19-Feb_2009)
EnsemblSMIM7 - 19p13.11 [CytoView hg19]  SMIM7 - 19p13.11 [CytoView hg38]
Mapping of homologs : NCBISMIM7 [Mapview hg19]  SMIM7 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK025602 AL702263 BC000817 BC001680 BC001948
RefSeq transcript (Entrez)NM_001300925 NM_024104
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SMIM7
Cluster EST : UnigeneHs.356467 [ NCBI ]
CGAP (NCI)Hs.356467
Alternative Splicing GalleryENSG00000214046
Gene ExpressionSMIM7 [ NCBI-GEO ]   SMIM7 [ EBI - ARRAY_EXPRESS ]   SMIM7 [ SEEK ]   SMIM7 [ MEM ]
Gene Expression Viewer (FireBrowse)SMIM7 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79086
GTEX Portal (Tissue expression)SMIM7
Human Protein AtlasENSG00000214046-SMIM7 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BQ49   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BQ49  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BQ49
Splice isoforms : SwissVarQ9BQ49
PhosPhoSitePlusQ9BQ49
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)SMIM7
DMDM Disease mutations79086
Blocks (Seattle)SMIM7
SuperfamilyQ9BQ49
Human Protein Atlas [tissue]ENSG00000214046-SMIM7 [tissue]
Peptide AtlasQ9BQ49
HPRD14525
IPIIPI00647203   IPI00792838   IPI00984751   IPI00976693   IPI00976015   
Protein Interaction databases
DIP (DOE-UCLA)Q9BQ49
IntAct (EBI)Q9BQ49
FunCoupENSG00000214046
BioGRIDSMIM7
STRING (EMBL)SMIM7
ZODIACSMIM7
Ontologies - Pathways
QuickGOQ9BQ49
Ontology : AmiGOintegral component of membrane  
Ontology : EGO-EBIintegral component of membrane  
NDEx NetworkSMIM7
Atlas of Cancer Signalling NetworkSMIM7
Wikipedia pathwaysSMIM7
Orthology - Evolution
OrthoDB79086
GeneTree (enSembl)ENSG00000214046
Phylogenetic Trees/Animal Genes : TreeFamSMIM7
HOVERGENQ9BQ49
HOGENOMQ9BQ49
Homologs : HomoloGeneSMIM7
Homology/Alignments : Family Browser (UCSC)SMIM7
Gene fusions - Rearrangements
Tumor Fusion PortalSMIM7
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSMIM7 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMIM7
dbVarSMIM7
ClinVarSMIM7
1000_GenomesSMIM7 
Exome Variant ServerSMIM7
ExAC (Exome Aggregation Consortium)ENSG00000214046
GNOMAD BrowserENSG00000214046
Genetic variants : HAPMAP79086
Genomic Variants (DGV)SMIM7 [DGVbeta]
DECIPHERSMIM7 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSMIM7 
Mutations
ICGC Data PortalSMIM7 
TCGA Data PortalSMIM7 
Broad Tumor PortalSMIM7
OASIS PortalSMIM7 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDSMIM7
BioMutasearch SMIM7
DgiDB (Drug Gene Interaction Database)SMIM7
DoCM (Curated mutations)SMIM7 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SMIM7 (select a term)
intoGenSMIM7
Cancer3DSMIM7(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETSMIM7
MedgenSMIM7
Genetic Testing Registry SMIM7
NextProtQ9BQ49 [Medical]
TSGene79086
GENETestsSMIM7
Target ValidationSMIM7
Huge Navigator SMIM7 [HugePedia]
snp3D : Map Gene to Disease79086
BioCentury BCIQSMIM7
ClinGenSMIM7
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79086
Chemical/Pharm GKB GenePA144596475
Clinical trialSMIM7
Miscellaneous
canSAR (ICR)SMIM7 (select the gene name)
Probes
Litterature
PubMed2 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSMIM7
EVEXSMIM7
GoPubMedSMIM7
iHOPSMIM7
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 13:39:55 CET 2017

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