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PMS2P1 (PMS1 homolog 2, mismatch repair system component pseudogene 1)

Identity

Alias_namesPMS2L6
PMS2L8
PMS2L7
PMS2L1
postmeiotic segregation increased 2-like 6
postmeiotic segregation increased 2-like 1
postmeiotic segregation increased 2-like 8
postmeiotic segregation increased 2-like 7
postmeiotic segregation increased 2-like 1 pseudogene
postmeiotic segregation increased 2 pseudogene 1
Alias_symbol (synonym)PMS3
PMS8
PMS2L13
PMSR2
PMSR1
Other alias
HGNC (Hugo) PMS2P1
LocusID (NCBI) 5379
Atlas_Id 51738
Location 7q22.1  [Link to chromosome band 7q22]
Location_base_pair Starts at 99918537 and ends at 99933930 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
PMS2P1 (7q22.1) / TBX18 (6q14.3)

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)PMS2P1   9123
Cards
Entrez_Gene (NCBI)PMS2P1  5379  PMS1 homolog 2, mismatch repair system component pseudogene 1
AliasesPMS2L1; PMS2L13; PMS2L6; PMS2L7; 
PMS2L8; PMS3; PMS8; PMSR1; PMSR2
GeneCards (Weizmann)PMS2P1
Ensembl hg19 (Hinxton) [Gene_View]  chr7:99918537-99933930 [Contig_View]  PMS2P1 [Vega]
Ensembl hg38 (Hinxton) [Gene_View]  chr7:99918537-99933930 [Contig_View]  PMS2P1 [Vega]
TCGA cBioPortalPMS2P1
AceView (NCBI)PMS2P1
Genatlas (Paris)PMS2P1
WikiGenes5379
SOURCE (Princeton)PMS2P1
Genetics Home Reference (NIH)PMS2P1
Genomic and cartography
GoldenPath hg19 (UCSC)PMS2P1  -     chr7:99918537-99933930 -  7q22.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PMS2P1  -     7q22.1   [Description]    (hg38-Dec_2013)
EnsemblPMS2P1 - 7q22.1 [CytoView hg19]  PMS2P1 - 7q22.1 [CytoView hg38]
Mapping of homologs : NCBIPMS2P1 [Mapview hg19]  PMS2P1 [Mapview hg38]
OMIM605038   
Gene and transcription
Genbank (Entrez)AB017004 BC038996 BC044214 BC067809 BC110395
RefSeq transcript (Entrez)NM_005394
RefSeq genomic (Entrez)NC_000007 NC_018918 NT_007933 NW_004929332
Consensus coding sequences : CCDS (NCBI)PMS2P1
Cluster EST : UnigeneHs.703626 [ NCBI ]
CGAP (NCI)Hs.703626
Gene ExpressionPMS2P1 [ NCBI-GEO ]   PMS2P1 [ EBI - ARRAY_EXPRESS ]   PMS2P1 [ SEEK ]   PMS2P1 [ MEM ]
Gene Expression Viewer (FireBrowse)PMS2P1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5379
GTEX Portal (Tissue expression)PMS2P1
Protein : pattern, domain, 3D structure
UniProt/SwissProtA4D2B8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtA4D2B8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProA4D2B8
Splice isoforms : SwissVarA4D2B8
PhosPhoSitePlusA4D2B8
Domaine pattern : Prosite (Expaxy)DNA_MISMATCH_REPAIR_1 (PS00058)   
Domains : Interpro (EBI)DNA_mismatch_repair_CS    HATPase_C   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)PMS2P1
DMDM Disease mutations5379
Blocks (Seattle)PMS2P1
SuperfamilyA4D2B8
Peptide AtlasA4D2B8
IPIIPI00477733   IPI00871484   IPI00953669   IPI00816774   
Protein Interaction databases
DIP (DOE-UCLA)A4D2B8
IntAct (EBI)A4D2B8
BioGRIDPMS2P1
STRING (EMBL)PMS2P1
ZODIACPMS2P1
Ontologies - Pathways
QuickGOA4D2B8
Ontology : AmiGOsingle-stranded DNA binding  mismatch repair  kinase activity  phosphorylation  somatic hypermutation of immunoglobulin genes  ATPase activity  MutLalpha complex  
Ontology : EGO-EBIsingle-stranded DNA binding  mismatch repair  kinase activity  phosphorylation  somatic hypermutation of immunoglobulin genes  ATPase activity  MutLalpha complex  
NDEx NetworkPMS2P1
Atlas of Cancer Signalling NetworkPMS2P1
Wikipedia pathwaysPMS2P1
Orthology - Evolution
OrthoDB5379
Phylogenetic Trees/Animal Genes : TreeFamPMS2P1
HOVERGENA4D2B8
HOGENOMA4D2B8
Homologs : HomoloGenePMS2P1
Homology/Alignments : Family Browser (UCSC)PMS2P1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPMS2P1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PMS2P1
dbVarPMS2P1
ClinVarPMS2P1
1000_GenomesPMS2P1 
Exome Variant ServerPMS2P1
ExAC (Exome Aggregation Consortium)PMS2P1 (select the gene name)
Genetic variants : HAPMAP5379
Genomic Variants (DGV)PMS2P1 [DGVbeta]
DECIPHER (Syndromes)7:99918537-99933930  
CONAN: Copy Number AnalysisPMS2P1 
Mutations
ICGC Data PortalPMS2P1 
TCGA Data PortalPMS2P1 
Broad Tumor PortalPMS2P1
OASIS PortalPMS2P1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPMS2P1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPMS2P1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PMS2P1
DgiDB (Drug Gene Interaction Database)PMS2P1
DoCM (Curated mutations)PMS2P1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PMS2P1 (select a term)
intoGenPMS2P1
Cancer3DPMS2P1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605038   
Orphanet
MedgenPMS2P1
Genetic Testing Registry PMS2P1
NextProtA4D2B8 [Medical]
TSGene5379
GENETestsPMS2P1
Huge Navigator PMS2P1 [HugePedia]
snp3D : Map Gene to Disease5379
BioCentury BCIQPMS2P1
ClinGenPMS2P1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5379
Chemical/Pharm GKB GenePA33449
Clinical trialPMS2P1
Miscellaneous
canSAR (ICR)PMS2P1 (select the gene name)
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePMS2P1
EVEXPMS2P1
GoPubMedPMS2P1
iHOPPMS2P1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:14:50 CEST 2017

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