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

PITPNC1 (phosphatidylinositol transfer protein, cytoplasmic 1)

Identity

Alias_symbol (synonym)RDGBB1
RDGBB
RDGB-BETA
Other aliasM-RDGB-beta
MRDGBbeta
HGNC (Hugo) PITPNC1
LocusID (NCBI) 26207
Atlas_Id 46665
Location 17q24.2  [Link to chromosome band 17q24]
Location_base_pair Starts at 67377281 and ends at 67697263 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
BPTF (17q24.2) / PITPNC1 (17q24.2)CDC5L (6p21.1) / PITPNC1 (17q24.2)COLEC11 (2p25.3) / PITPNC1 (17q24.2)
DDX42 (17q23.3) / PITPNC1 (17q24.2)FNDC3B (3q26.31) / PITPNC1 (17q24.2)FOXK2 (17q25.3) / PITPNC1 (17q24.2)
HELZ (17q24.2) / PITPNC1 (17q24.2)KCNK2 (1q41) / PITPNC1 (17q24.2)LAMB1 (7q31.1) / PITPNC1 (17q24.2)
PIGU (20q11.22) / PITPNC1 (17q24.2)PITPNC1 (17q24.2) / EYA2 (20q13.12)PITPNC1 (17q24.2) / MARCH10 (17q23.2)
PITPNC1 (17q24.2) / MBTD1 (17q21.33)PITPNC1 (17q24.2) / PITPNC1 (17q24.2)PITPNC1 (17q24.2) / PRKCA (17q24.2)
PITPNC1 (17q24.2) / ZMIZ1 (10q22.3)POLN (4p16.3) / PITPNC1 (17q24.2)PRKCA (17q24.2) / PITPNC1 (17q24.2)
PSMD12 (17q24.2) / PITPNC1 (17q24.2)SLC39A11 (17q24.3) / PITPNC1 (17q24.2)BPTF 17q24.2 / PITPNC1 17q24.2
CDC5L 6p21.1 / PITPNC1 17q24.2FOXK2 17q25.3 / PITPNC1 17q24.2HELZ 17q24.2 / PITPNC1 17q24.2
PIGU 20q11.22 / PITPNC1 17q24.2PITPNC1 17q24.2 / MARCH10 17q23.2PITPNC1 17q24.2 / MBTD1 17q21.33
PRKCA 17q24.2 / PITPNC1 17q24.2PSMD12 17q24.2 / PITPNC1 17q24.2SLC39A11 17q24.3 / PITPNC1 17q24.2

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)PITPNC1   21045
Cards
Entrez_Gene (NCBI)PITPNC1  26207  phosphatidylinositol transfer protein, cytoplasmic 1
AliasesM-RDGB-beta; MRDGBbeta; RDGB-BETA; RDGBB; 
RDGBB1
GeneCards (Weizmann)PITPNC1
Ensembl hg19 (Hinxton)ENSG00000154217 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000154217 [Gene_View]  chr17:67377281-67697263 [Contig_View]  PITPNC1 [Vega]
ICGC DataPortalENSG00000154217
TCGA cBioPortalPITPNC1
AceView (NCBI)PITPNC1
Genatlas (Paris)PITPNC1
WikiGenes26207
SOURCE (Princeton)PITPNC1
Genetics Home Reference (NIH)PITPNC1
Genomic and cartography
GoldenPath hg38 (UCSC)PITPNC1  -     chr17:67377281-67697263 +  17q24.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PITPNC1  -     17q24.2   [Description]    (hg19-Feb_2009)
EnsemblPITPNC1 - 17q24.2 [CytoView hg19]  PITPNC1 - 17q24.2 [CytoView hg38]
Mapping of homologs : NCBIPITPNC1 [Mapview hg19]  PITPNC1 [Mapview hg38]
OMIM605134   
Gene and transcription
Genbank (Entrez)AF171102 AI126821 AK094724 AK290838 AK307138
RefSeq transcript (Entrez)NM_012417 NM_181671
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PITPNC1
Cluster EST : UnigeneHs.591185 [ NCBI ]
CGAP (NCI)Hs.591185
Alternative Splicing GalleryENSG00000154217
Gene ExpressionPITPNC1 [ NCBI-GEO ]   PITPNC1 [ EBI - ARRAY_EXPRESS ]   PITPNC1 [ SEEK ]   PITPNC1 [ MEM ]
Gene Expression Viewer (FireBrowse)PITPNC1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)26207
GTEX Portal (Tissue expression)PITPNC1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UKF7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UKF7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UKF7
Splice isoforms : SwissVarQ9UKF7
PhosPhoSitePlusQ9UKF7
Domains : Interpro (EBI)PI_transfer    START-like_dom   
Domain families : Pfam (Sanger)IP_trans (PF02121)   
Domain families : Pfam (NCBI)pfam02121   
Conserved Domain (NCBI)PITPNC1
DMDM Disease mutations26207
Blocks (Seattle)PITPNC1
SuperfamilyQ9UKF7
Human Protein AtlasENSG00000154217
Peptide AtlasQ9UKF7
HPRD05504
IPIIPI00018284   IPI00063187   
Protein Interaction databases
DIP (DOE-UCLA)Q9UKF7
IntAct (EBI)Q9UKF7
FunCoupENSG00000154217
BioGRIDPITPNC1
STRING (EMBL)PITPNC1
ZODIACPITPNC1
Ontologies - Pathways
QuickGOQ9UKF7
Ontology : AmiGOprotein binding  nucleoplasm  cytoplasm  cytosol  signal transduction  phosphatidylcholine transporter activity  phosphatidylinositol transporter activity  phosphatidylinositol transporter activity  phospholipid transport  phosphatidylinositol binding  phosphatidic acid binding  phosphatidylglycerol binding  
Ontology : EGO-EBIprotein binding  nucleoplasm  cytoplasm  cytosol  signal transduction  phosphatidylcholine transporter activity  phosphatidylinositol transporter activity  phosphatidylinositol transporter activity  phospholipid transport  phosphatidylinositol binding  phosphatidic acid binding  phosphatidylglycerol binding  
NDEx NetworkPITPNC1
Atlas of Cancer Signalling NetworkPITPNC1
Wikipedia pathwaysPITPNC1
Orthology - Evolution
OrthoDB26207
GeneTree (enSembl)ENSG00000154217
Phylogenetic Trees/Animal Genes : TreeFamPITPNC1
HOVERGENQ9UKF7
HOGENOMQ9UKF7
Homologs : HomoloGenePITPNC1
Homology/Alignments : Family Browser (UCSC)PITPNC1
Gene fusions - Rearrangements
Fusion : MitelmanBPTF/PITPNC1 [17q24.2/17q24.2]  [t(17;17)(q24;q24)]  
Fusion : MitelmanCDC5L/PITPNC1 [6p21.1/17q24.2]  [t(6;17)(p21;q24)]  
Fusion : MitelmanFOXK2/PITPNC1 [17q25.3/17q24.2]  [t(17;17)(q24;q25)]  
Fusion : MitelmanHELZ/PITPNC1 [17q24.2/17q24.2]  [t(17;17)(q24;q24)]  
Fusion : MitelmanPIGU/PITPNC1 [20q11.22/17q24.2]  [t(17;20)(q24;q11)]  
Fusion : MitelmanPITPNC1/MARCH10 [17q24.2/17q23.2]  [t(17;17)(q23;q24)]  
Fusion : MitelmanPITPNC1/MBTD1 [17q24.2/17q21.33]  [t(17;17)(q21;q24)]  
Fusion : MitelmanPRKCA/PITPNC1 [17q24.2/17q24.2]  [t(17;17)(q24;q24)]  
Fusion : MitelmanPSMD12/PITPNC1 [17q24.2/17q24.2]  [t(17;17)(q24;q24)]  
Fusion : MitelmanSLC39A11/PITPNC1 [17q24.3/17q24.2]  [t(17;17)(q24;q25)]  
Fusion: TCGABPTF 17q24.2 PITPNC1 17q24.2 BRCA
Fusion: TCGACDC5L 6p21.1 PITPNC1 17q24.2 BRCA
Fusion: TCGAFOXK2 17q25.3 PITPNC1 17q24.2 BRCA
Fusion: TCGAHELZ 17q24.2 PITPNC1 17q24.2 BRCA
Fusion: TCGAPIGU 20q11.22 PITPNC1 17q24.2 BRCA
Fusion: TCGAPITPNC1 17q24.2 MARCH10 17q23.2 BRCA
Fusion: TCGAPITPNC1 17q24.2 MBTD1 17q21.33 BRCA
Fusion: TCGAPRKCA 17q24.2 PITPNC1 17q24.2 LUAD SKCM
Fusion: TCGAPSMD12 17q24.2 PITPNC1 17q24.2 BRCA
Fusion: TCGASLC39A11 17q24.3 PITPNC1 17q24.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPITPNC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PITPNC1
dbVarPITPNC1
ClinVarPITPNC1
1000_GenomesPITPNC1 
Exome Variant ServerPITPNC1
ExAC (Exome Aggregation Consortium)PITPNC1 (select the gene name)
Genetic variants : HAPMAP26207
Genomic Variants (DGV)PITPNC1 [DGVbeta]
DECIPHERPITPNC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPITPNC1 
Mutations
ICGC Data PortalPITPNC1 
TCGA Data PortalPITPNC1 
Broad Tumor PortalPITPNC1
OASIS PortalPITPNC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPITPNC1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPITPNC1
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 PITPNC1
DgiDB (Drug Gene Interaction Database)PITPNC1
DoCM (Curated mutations)PITPNC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PITPNC1 (select a term)
intoGenPITPNC1
Cancer3DPITPNC1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605134   
Orphanet
MedgenPITPNC1
Genetic Testing Registry PITPNC1
NextProtQ9UKF7 [Medical]
TSGene26207
GENETestsPITPNC1
Target ValidationPITPNC1
Huge Navigator PITPNC1 [HugePedia]
snp3D : Map Gene to Disease26207
BioCentury BCIQPITPNC1
ClinGenPITPNC1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD26207
Chemical/Pharm GKB GenePA128394642
Clinical trialPITPNC1
Miscellaneous
canSAR (ICR)PITPNC1 (select the gene name)
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePITPNC1
EVEXPITPNC1
GoPubMedPITPNC1
iHOPPITPNC1
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 : Wed Jun 7 12:49:35 CEST 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.