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SMIM1 (small integral membrane protein 1 (Vel blood group))

Identity

Alias_namessmall integral membrane protein 1
Alias_symbol (synonym)Vel
Other alias
HGNC (Hugo) SMIM1
LocusID (NCBI) 388588
Atlas_Id 56304
Location 1p36.32  [Link to chromosome band 1p36]
Location_base_pair Starts at 3689351 and ends at 3692546 bp from pter ( according to hg19-Feb_2009)

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)SMIM1   44204
LRG (Locus Reference Genomic)LRG_827
Cards
Entrez_Gene (NCBI)SMIM1  388588  small integral membrane protein 1 (Vel blood group)
AliasesVel
GeneCards (Weizmann)SMIM1
Ensembl hg19 (Hinxton)ENSG00000235169 [Gene_View]  chr1:3689351-3692546 [Contig_View]  SMIM1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000235169 [Gene_View]  chr1:3689351-3692546 [Contig_View]  SMIM1 [Vega]
ICGC DataPortalENSG00000235169
TCGA cBioPortalSMIM1
AceView (NCBI)SMIM1
Genatlas (Paris)SMIM1
WikiGenes388588
SOURCE (Princeton)SMIM1
Genetics Home Reference (NIH)SMIM1
Genomic and cartography
GoldenPath hg19 (UCSC)SMIM1  -     chr1:3689351-3692546 +  1p36.32   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SMIM1  -     1p36.32   [Description]    (hg38-Dec_2013)
EnsemblSMIM1 - 1p36.32 [CytoView hg19]  SMIM1 - 1p36.32 [CytoView hg38]
Mapping of homologs : NCBISMIM1 [Mapview hg19]  SMIM1 [Mapview hg38]
OMIM615242   615264   
Gene and transcription
Genbank (Entrez)-
RefSeq transcript (Entrez)NM_001163724 NM_001288583
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SMIM1
Cluster EST : UnigeneHs.22047 [ NCBI ]
CGAP (NCI)Hs.22047
Alternative Splicing GalleryENSG00000235169
Gene ExpressionSMIM1 [ NCBI-GEO ]   SMIM1 [ EBI - ARRAY_EXPRESS ]   SMIM1 [ SEEK ]   SMIM1 [ MEM ]
Gene Expression Viewer (FireBrowse)SMIM1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)388588
GTEX Portal (Tissue expression)SMIM1
Protein : pattern, domain, 3D structure
UniProt/SwissProtB2RUZ4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtB2RUZ4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProB2RUZ4
Splice isoforms : SwissVarB2RUZ4
PhosPhoSitePlusB2RUZ4
Domains : Interpro (EBI)DUF4731   
Domain families : Pfam (Sanger)DUF4731 (PF15875)   
Domain families : Pfam (NCBI)pfam15875   
Conserved Domain (NCBI)SMIM1
DMDM Disease mutations388588
Blocks (Seattle)SMIM1
SuperfamilyB2RUZ4
Human Protein AtlasENSG00000235169
Peptide AtlasB2RUZ4
IPIIPI00896449   
Protein Interaction databases
DIP (DOE-UCLA)B2RUZ4
IntAct (EBI)B2RUZ4
FunCoupENSG00000235169
BioGRIDSMIM1
STRING (EMBL)SMIM1
ZODIACSMIM1
Ontologies - Pathways
QuickGOB2RUZ4
Ontology : AmiGOintegral component of membrane  extracellular exosome  
Ontology : EGO-EBIintegral component of membrane  extracellular exosome  
NDEx NetworkSMIM1
Atlas of Cancer Signalling NetworkSMIM1
Wikipedia pathwaysSMIM1
Orthology - Evolution
OrthoDB388588
GeneTree (enSembl)ENSG00000235169
Phylogenetic Trees/Animal Genes : TreeFamSMIM1
HOVERGENB2RUZ4
HOGENOMB2RUZ4
Homologs : HomoloGeneSMIM1
Homology/Alignments : Family Browser (UCSC)SMIM1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSMIM1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMIM1
dbVarSMIM1
ClinVarSMIM1
1000_GenomesSMIM1 
Exome Variant ServerSMIM1
ExAC (Exome Aggregation Consortium)SMIM1 (select the gene name)
Genetic variants : HAPMAP388588
Genomic Variants (DGV)SMIM1 [DGVbeta]
DECIPHER (Syndromes)1:3689351-3692546  ENSG00000235169
CONAN: Copy Number AnalysisSMIM1 
Mutations
ICGC Data PortalSMIM1 
TCGA Data PortalSMIM1 
Broad Tumor PortalSMIM1
OASIS PortalSMIM1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDSMIM1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SMIM1
DgiDB (Drug Gene Interaction Database)SMIM1
DoCM (Curated mutations)SMIM1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SMIM1 (select a term)
intoGenSMIM1
Cancer3DSMIM1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615242    615264   
Orphanet
MedgenSMIM1
Genetic Testing Registry SMIM1
NextProtB2RUZ4 [Medical]
TSGene388588
GENETestsSMIM1
Huge Navigator SMIM1 [HugePedia]
snp3D : Map Gene to Disease388588
BioCentury BCIQSMIM1
ClinGenSMIM1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD388588
Clinical trialSMIM1
Miscellaneous
canSAR (ICR)SMIM1 (select the gene name)
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSMIM1
EVEXSMIM1
GoPubMedSMIM1
iHOPSMIM1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:28:19 CET 2017

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