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PRKCSH (protein kinase C substrate 80K-H)

Identity

Alias_namesG19P1
PCLD
PLD1
polycystic liver disease
Alias_symbol (synonym)VASAP-60
GIIB
Other aliasAGE-R2
PCLD1
PKCSH
HGNC (Hugo) PRKCSH
LocusID (NCBI) 5589
Atlas_Id 41862
Location 19p13.2  [Link to chromosome band 19p13]
Location_base_pair Starts at 11435257 and ends at 11450967 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
DHCR24 (1p32.3) / PRKCSH (19p13.2)DYSF (2p13.2) / PRKCSH (19p13.2)KTN1 (14q22.3) / PRKCSH (19p13.2)
LOC100507412 (-) / PRKCSH (19p13.2)NDUFA7 (19p13.2) / PRKCSH (19p13.2)NFE2L1 (17q21.32) / PRKCSH (19p13.2)
PRKCSH (19p13.2) / ENC1 (5q13.3)PRKCSH (19p13.2) / GANAB (11q12.3)PRKCSH (19p13.2) / MEF2A (15q26.3)
PRKCSH (19p13.2) / PRKCSH (19p13.2)PRKCSH (19p13.2) / PURB (7p13)DHCR24 1p32.3 / PRKCSH 19p13.2
KTN1 14q22.3 / PRKCSH 19p13.2

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)PRKCSH   9411
Cards
Entrez_Gene (NCBI)PRKCSH  5589  protein kinase C substrate 80K-H
AliasesAGE-R2; G19P1; GIIB; PCLD; 
PCLD1; PKCSH; PLD1; VASAP-60
GeneCards (Weizmann)PRKCSH
Ensembl hg19 (Hinxton)ENSG00000130175 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000130175 [Gene_View]  chr19:11435257-11450967 [Contig_View]  PRKCSH [Vega]
ICGC DataPortalENSG00000130175
TCGA cBioPortalPRKCSH
AceView (NCBI)PRKCSH
Genatlas (Paris)PRKCSH
WikiGenes5589
SOURCE (Princeton)PRKCSH
Genetics Home Reference (NIH)PRKCSH
Genomic and cartography
GoldenPath hg38 (UCSC)PRKCSH  -     chr19:11435257-11450967 +  19p13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PRKCSH  -     19p13.2   [Description]    (hg19-Feb_2009)
EnsemblPRKCSH - 19p13.2 [CytoView hg19]  PRKCSH - 19p13.2 [CytoView hg38]
Mapping of homologs : NCBIPRKCSH [Mapview hg19]  PRKCSH [Mapview hg38]
OMIM174050   177060   
Gene and transcription
Genbank (Entrez)AF144075 AK130663 AK225279 AK225390 AK290433
RefSeq transcript (Entrez)NM_001001329 NM_001289102 NM_001289103 NM_001289104 NM_002743
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PRKCSH
Cluster EST : UnigeneHs.610830 [ NCBI ]
CGAP (NCI)Hs.610830
Alternative Splicing GalleryENSG00000130175
Gene ExpressionPRKCSH [ NCBI-GEO ]   PRKCSH [ EBI - ARRAY_EXPRESS ]   PRKCSH [ SEEK ]   PRKCSH [ MEM ]
Gene Expression Viewer (FireBrowse)PRKCSH [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5589
GTEX Portal (Tissue expression)PRKCSH
Protein : pattern, domain, 3D structure
UniProt/SwissProtP14314   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP14314  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP14314
Splice isoforms : SwissVarP14314
PhosPhoSitePlusP14314
Domaine pattern : Prosite (Expaxy)EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)    ER_TARGET (PS00014)   
Domains : Interpro (EBI)EF-hand-dom_pair    EF_Hand_1_Ca_BS    EF_hand_dom    Glucosidase_2_bsu    LDrepeatLR_classA_rpt    Man6P_isomerase_rcpt-bd_dom    PRKCSH_N   
Domain families : Pfam (Sanger)EF-hand_5 (PF13202)    PRKCSH-like (PF12999)    PRKCSH_1 (PF13015)   
Domain families : Pfam (NCBI)pfam13202    pfam12999    pfam13015   
Conserved Domain (NCBI)PRKCSH
DMDM Disease mutations5589
Blocks (Seattle)PRKCSH
SuperfamilyP14314
Human Protein AtlasENSG00000130175
Peptide AtlasP14314
HPRD03518
IPIIPI00829824   IPI00026154   IPI00792916   
Protein Interaction databases
DIP (DOE-UCLA)P14314
IntAct (EBI)P14314
FunCoupENSG00000130175
BioGRIDPRKCSH
STRING (EMBL)PRKCSH
ZODIACPRKCSH
Ontologies - Pathways
QuickGOP14314
Ontology : AmiGOprotein kinase C binding  calcium ion binding  intracellular  endoplasmic reticulum  endoplasmic reticulum lumen  protein folding  N-glycan processing  intracellular signal transduction  ion channel binding  phosphoprotein binding  
Ontology : EGO-EBIprotein kinase C binding  calcium ion binding  intracellular  endoplasmic reticulum  endoplasmic reticulum lumen  protein folding  N-glycan processing  intracellular signal transduction  ion channel binding  phosphoprotein binding  
Pathways : KEGGProtein processing in endoplasmic reticulum   
NDEx NetworkPRKCSH
Atlas of Cancer Signalling NetworkPRKCSH
Wikipedia pathwaysPRKCSH
Orthology - Evolution
OrthoDB5589
GeneTree (enSembl)ENSG00000130175
Phylogenetic Trees/Animal Genes : TreeFamPRKCSH
HOVERGENP14314
HOGENOMP14314
Homologs : HomoloGenePRKCSH
Homology/Alignments : Family Browser (UCSC)PRKCSH
Gene fusions - Rearrangements
Fusion : MitelmanDHCR24/PRKCSH [1p32.3/19p13.2]  [t(1;19)(p32;p13)]  
Fusion : MitelmanKTN1/PRKCSH [14q22.3/19p13.2]  [t(14;19)(q22;p13)]  
Fusion: TCGADHCR24 1p32.3 PRKCSH 19p13.2 PRAD
Fusion: TCGAKTN1 14q22.3 PRKCSH 19p13.2 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPRKCSH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PRKCSH
dbVarPRKCSH
ClinVarPRKCSH
1000_GenomesPRKCSH 
Exome Variant ServerPRKCSH
ExAC (Exome Aggregation Consortium)PRKCSH (select the gene name)
Genetic variants : HAPMAP5589
Genomic Variants (DGV)PRKCSH [DGVbeta]
DECIPHERPRKCSH [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPRKCSH 
Mutations
ICGC Data PortalPRKCSH 
TCGA Data PortalPRKCSH 
Broad Tumor PortalPRKCSH
OASIS PortalPRKCSH [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPRKCSH  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPRKCSH
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 PRKCSH
DgiDB (Drug Gene Interaction Database)PRKCSH
DoCM (Curated mutations)PRKCSH (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PRKCSH (select a term)
intoGenPRKCSH
Cancer3DPRKCSH(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM174050    177060   
Orphanet2641   
MedgenPRKCSH
Genetic Testing Registry PRKCSH
NextProtP14314 [Medical]
TSGene5589
GENETestsPRKCSH
Target ValidationPRKCSH
Huge Navigator PRKCSH [HugePedia]
snp3D : Map Gene to Disease5589
BioCentury BCIQPRKCSH
ClinGenPRKCSH
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5589
Chemical/Pharm GKB GenePA33774
Clinical trialPRKCSH
Miscellaneous
canSAR (ICR)PRKCSH (select the gene name)
Probes
Litterature
PubMed63 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePRKCSH
EVEXPRKCSH
GoPubMedPRKCSH
iHOPPRKCSH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 1 17:11:40 CEST 2017

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