Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

HM13 (histocompatibility minor 13)

Identity

Alias_symbol (synonym)H13
dJ324O17.1
SPP
PSL3
IMP1
IMPAS
PSENL3
SPPL1
Other aliasIMPAS-1
MSTP086
HGNC (Hugo) HM13
LocusID (NCBI) 81502
Atlas_Id 54362
Location 20q11.21  [Link to chromosome band 20q11]
Location_base_pair Starts at 31514410 and ends at 31569567 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)
BCL2L1 (20q11.21) / HM13 (20q11.21)CBFA2T2 (20q11.21) / HM13 (20q11.21)CDAN1 (15q15.2) / HM13 (20q11.21)
HM13 (20q11.21) / ASXL1 (20q11.21)HM13 (20q11.21) / BCL2L1 (20q11.21)HM13 (20q11.21) / PNPLA2 (11p15.5)
HM13 (20q11.21) / TSPAN31 (12q14.1)MPND (19p13.3) / HM13 (20q11.21)RLF (1p34.2) / HM13 (20q11.21)
TM9SF4 (20q11.21) / HM13 (20q11.21)TMEM241 (18q11.2) / HM13 (20q11.21)TPX2 (20q11.21) / HM13 (20q11.21)
CBFA2T2 20q11.21 / HM13 20q11.21TM9SF4 20q11.21 / HM13 20q11.21TPX2 20q11.21 / HM13 20q11.21

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Lung: Translocations in Small Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)HM13   16435
Cards
Entrez_Gene (NCBI)HM13  81502  histocompatibility minor 13
AliasesH13; IMP1; IMPAS; IMPAS-1; 
MSTP086; PSENL3; PSL3; SPP; SPPL1
GeneCards (Weizmann)HM13
Ensembl hg19 (Hinxton)ENSG00000101294 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000101294 [Gene_View]  chr20:31514410-31569567 [Contig_View]  HM13 [Vega]
ICGC DataPortalENSG00000101294
TCGA cBioPortalHM13
AceView (NCBI)HM13
Genatlas (Paris)HM13
WikiGenes81502
SOURCE (Princeton)HM13
Genetics Home Reference (NIH)HM13
Genomic and cartography
GoldenPath hg38 (UCSC)HM13  -     chr20:31514410-31569567 +  20q11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HM13  -     20q11.21   [Description]    (hg19-Feb_2009)
EnsemblHM13 - 20q11.21 [CytoView hg19]  HM13 - 20q11.21 [CytoView hg38]
Mapping of homologs : NCBIHM13 [Mapview hg19]  HM13 [Mapview hg38]
OMIM607106   
Gene and transcription
Genbank (Entrez)AF172086 AF483215 AF515663 AJ345029 AJ420895
RefSeq transcript (Entrez)NM_030789 NM_178580 NM_178581 NM_178582
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HM13
Cluster EST : UnigeneHs.373741 [ NCBI ]
CGAP (NCI)Hs.373741
Alternative Splicing GalleryENSG00000101294
Gene ExpressionHM13 [ NCBI-GEO ]   HM13 [ EBI - ARRAY_EXPRESS ]   HM13 [ SEEK ]   HM13 [ MEM ]
Gene Expression Viewer (FireBrowse)HM13 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)81502
GTEX Portal (Tissue expression)HM13
Human Protein AtlasENSG00000101294-HM13 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TCT9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TCT9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TCT9
Splice isoforms : SwissVarQ8TCT9
Catalytic activity : Enzyme3.4.23.- [ Enzyme-Expasy ]   3.4.23.-3.4.23.- [ IntEnz-EBI ]   3.4.23.- [ BRENDA ]   3.4.23.- [ KEGG ]   
PhosPhoSitePlusQ8TCT9
Domains : Interpro (EBI)Peptidase_A22B_SPP    Preselin/SPP   
Domain families : Pfam (Sanger)Peptidase_A22B (PF04258)   
Domain families : Pfam (NCBI)pfam04258   
Domain families : Smart (EMBL)PSN (SM00730)  
Conserved Domain (NCBI)HM13
DMDM Disease mutations81502
Blocks (Seattle)HM13
SuperfamilyQ8TCT9
Human Protein Atlas [tissue]ENSG00000101294-HM13 [tissue]
Peptide AtlasQ8TCT9
HPRD06166
IPIIPI00152441   IPI00220687   IPI00329296   IPI00552772   IPI00220688   
Protein Interaction databases
DIP (DOE-UCLA)Q8TCT9
IntAct (EBI)Q8TCT9
FunCoupENSG00000101294
BioGRIDHM13
STRING (EMBL)HM13
ZODIACHM13
Ontologies - Pathways
QuickGOQ8TCT9
Ontology : AmiGOprotein binding  lysosomal membrane  endoplasmic reticulum  endoplasmic reticulum  endoplasmic reticulum membrane  rough endoplasmic reticulum  plasma membrane  membrane protein ectodomain proteolysis  peptidase activity  cell surface  membrane  Golgi-associated vesicle membrane  membrane protein intracellular domain proteolysis  ubiquitin protein ligase binding  membrane protein proteolysis  Derlin-1 retrotranslocation complex  aspartic endopeptidase activity, intramembrane cleaving  aspartic endopeptidase activity, intramembrane cleaving  protein homodimerization activity  protein homotetramerization  integral component of cytoplasmic side of endoplasmic reticulum membrane  integral component of lumenal side of endoplasmic reticulum membrane  membrane protein proteolysis involved in retrograde protein transport, ER to cytosol  
Ontology : EGO-EBIprotein binding  lysosomal membrane  endoplasmic reticulum  endoplasmic reticulum  endoplasmic reticulum membrane  rough endoplasmic reticulum  plasma membrane  membrane protein ectodomain proteolysis  peptidase activity  cell surface  membrane  Golgi-associated vesicle membrane  membrane protein intracellular domain proteolysis  ubiquitin protein ligase binding  membrane protein proteolysis  Derlin-1 retrotranslocation complex  aspartic endopeptidase activity, intramembrane cleaving  aspartic endopeptidase activity, intramembrane cleaving  protein homodimerization activity  protein homotetramerization  integral component of cytoplasmic side of endoplasmic reticulum membrane  integral component of lumenal side of endoplasmic reticulum membrane  membrane protein proteolysis involved in retrograde protein transport, ER to cytosol  
NDEx NetworkHM13
Atlas of Cancer Signalling NetworkHM13
Wikipedia pathwaysHM13
Orthology - Evolution
OrthoDB81502
GeneTree (enSembl)ENSG00000101294
Phylogenetic Trees/Animal Genes : TreeFamHM13
HOVERGENQ8TCT9
HOGENOMQ8TCT9
Homologs : HomoloGeneHM13
Homology/Alignments : Family Browser (UCSC)HM13
Gene fusions - Rearrangements
Fusion : MitelmanBCL2L1/HM13 [20q11.21/20q11.21]  [t(20;20)(q11;q11)]  
Fusion : MitelmanCBFA2T2/HM13 [20q11.21/20q11.21]  [t(20;20)(q11;q11)]  
Fusion : MitelmanRLF/HM13 [1p34.2/20q11.21]  [t(1;20)(p34;q11)]  
Fusion : MitelmanTM9SF4/HM13 [20q11.21/20q11.21]  [t(20;20)(q11;q11)]  
Fusion : MitelmanTMEM241/HM13 [18q11.2/20q11.21]  [t(18;20)(q11;q11)]  [t(18;20)(q11;q15)]  
Fusion : MitelmanTPX2/HM13 [20q11.21/20q11.21]  [t(20;20)(q11;q11)]  
Fusion: TCGA_MDACCCBFA2T2 20q11.21 HM13 20q11.21 HNSC
Fusion: TCGA_MDACCTM9SF4 20q11.21 HM13 20q11.21 GBM LUSC
Fusion: TCGA_MDACCTPX2 20q11.21 HM13 20q11.21 BLCA
Tumor Fusion PortalHM13
Fusion Cancer (Beijing)CDAN1 [15q15.2]  -  HM13 [20q11.21]  [FUSC001489]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHM13 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HM13
dbVarHM13
ClinVarHM13
1000_GenomesHM13 
Exome Variant ServerHM13
ExAC (Exome Aggregation Consortium)ENSG00000101294
GNOMAD BrowserENSG00000101294
Genetic variants : HAPMAP81502
Genomic Variants (DGV)HM13 [DGVbeta]
DECIPHERHM13 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHM13 
Mutations
ICGC Data PortalHM13 
TCGA Data PortalHM13 
Broad Tumor PortalHM13
OASIS PortalHM13 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHM13  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHM13
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 HM13
DgiDB (Drug Gene Interaction Database)HM13
DoCM (Curated mutations)HM13 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HM13 (select a term)
intoGenHM13
Cancer3DHM13(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607106   
Orphanet
DisGeNETHM13
MedgenHM13
Genetic Testing Registry HM13
NextProtQ8TCT9 [Medical]
TSGene81502
GENETestsHM13
Target ValidationHM13
Huge Navigator HM13 [HugePedia]
snp3D : Map Gene to Disease81502
BioCentury BCIQHM13
ClinGenHM13
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD81502
Chemical/Pharm GKB GenePA29314
Clinical trialHM13
Miscellaneous
canSAR (ICR)HM13 (select the gene name)
Probes
Litterature
PubMed42 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHM13
EVEXHM13
GoPubMedHM13
iHOPHM13
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:16:23 CET 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.