Atlas of Genetics and Cytogenetics in Oncology and Haematology


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HMSD (histocompatibility minor serpin domain containing)

Identity

Alias_namesC18orf53
histocompatibility (minor) serpin domain containing
Alias_symbol (synonym)ACC-6
ACC6
Other aliasHSMD-v
HGNC (Hugo) HMSD
LocusID (NCBI) 284293
Atlas_Id 64354
Location 18q22.1  [Link to chromosome band 18q22]
Location_base_pair Starts at 63949354 and ends at 63960411 bp from pter ( according to hg38-Dec_2013)

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)HMSD   23037
Cards
Entrez_Gene (NCBI)HMSD  284293  histocompatibility minor serpin domain containing
AliasesACC-6; ACC6; C18orf53; HSMD-v
GeneCards (Weizmann)HMSD
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]  chr18:63949354-63960411 [Contig_View]  HMSD [Vega]
TCGA cBioPortalHMSD
AceView (NCBI)HMSD
Genatlas (Paris)HMSD
WikiGenes284293
SOURCE (Princeton)HMSD
Genetics Home Reference (NIH)HMSD
Genomic and cartography
GoldenPath hg38 (UCSC)HMSD  -     chr18:63949354-63960411 +  18q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HMSD  -     18q22.1   [Description]    (hg19-Feb_2009)
EnsemblHMSD - 18q22.1 [CytoView hg19]  HMSD - 18q22.1 [CytoView hg38]
Mapping of homologs : NCBIHMSD [Mapview hg19]  HMSD [Mapview hg38]
OMIM612086   
Gene and transcription
Genbank (Entrez)AW205887 BM696260
RefSeq transcript (Entrez)NM_001123366
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HMSD
Cluster EST : UnigeneHs.721604 [ NCBI ]
CGAP (NCI)Hs.721604
Gene ExpressionHMSD [ NCBI-GEO ]   HMSD [ EBI - ARRAY_EXPRESS ]   HMSD [ SEEK ]   HMSD [ MEM ]
Gene Expression Viewer (FireBrowse)HMSD [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)284293
GTEX Portal (Tissue expression)HMSD
Protein : pattern, domain, 3D structure
UniProt/SwissProtP0C7T4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP0C7T4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP0C7T4
Splice isoforms : SwissVarP0C7T4
PhosPhoSitePlusP0C7T4
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)HMSD
DMDM Disease mutations284293
Blocks (Seattle)HMSD
SuperfamilyP0C7T4
Peptide AtlasP0C7T4
IPIIPI00174867   IPI00900306   
Protein Interaction databases
DIP (DOE-UCLA)P0C7T4
IntAct (EBI)P0C7T4
BioGRIDHMSD
STRING (EMBL)HMSD
ZODIACHMSD
Ontologies - Pathways
QuickGOP0C7T4
Ontology : AmiGOserine-type endopeptidase inhibitor activity  extracellular space  cytoplasm  negative regulation of endopeptidase activity  
Ontology : EGO-EBIserine-type endopeptidase inhibitor activity  extracellular space  cytoplasm  negative regulation of endopeptidase activity  
NDEx NetworkHMSD
Atlas of Cancer Signalling NetworkHMSD
Wikipedia pathwaysHMSD
Orthology - Evolution
OrthoDB284293
Phylogenetic Trees/Animal Genes : TreeFamHMSD
HOVERGENP0C7T4
HOGENOMP0C7T4
Homologs : HomoloGeneHMSD
Homology/Alignments : Family Browser (UCSC)HMSD
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHMSD [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HMSD
dbVarHMSD
ClinVarHMSD
1000_GenomesHMSD 
Exome Variant ServerHMSD
ExAC (Exome Aggregation Consortium)HMSD (select the gene name)
Genetic variants : HAPMAP284293
Genomic Variants (DGV)HMSD [DGVbeta]
DECIPHERHMSD [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHMSD 
Mutations
ICGC Data PortalHMSD 
TCGA Data PortalHMSD 
Broad Tumor PortalHMSD
OASIS PortalHMSD [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHMSD  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHMSD
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch HMSD
DgiDB (Drug Gene Interaction Database)HMSD
DoCM (Curated mutations)HMSD (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HMSD (select a term)
intoGenHMSD
Cancer3DHMSD(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612086   
Orphanet
MedgenHMSD
Genetic Testing Registry HMSD
NextProtP0C7T4 [Medical]
TSGene284293
GENETestsHMSD
Target ValidationHMSD
Huge Navigator HMSD [HugePedia]
snp3D : Map Gene to Disease284293
BioCentury BCIQHMSD
ClinGenHMSD
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD284293
Chemical/Pharm GKB GenePA162391030
Clinical trialHMSD
Miscellaneous
canSAR (ICR)HMSD (select the gene name)
Probes
Litterature
PubMed3 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHMSD
EVEXHMSD
GoPubMedHMSD
iHOPHMSD
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:10:38 CEST 2017

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