Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PITPNB (phosphatidylinositol transfer protein beta)

Identity

Alias_symbol (synonym)VIB1B
Other aliasPI-TP-beta
PtdInsTP
HGNC (Hugo) PITPNB
LocusID (NCBI) 23760
Atlas_Id 46718
Location 22q12.1  [Link to chromosome band 22q12]
Location_base_pair Starts at 28247657 and ends at 28315294 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
DFNB31 (9q32) / PITPNB (22q12.1)PITPNB (22q12.1) / ARHGDIB (12p12.3)PITPNB (22q12.1) / ARHGEF18 (19p13.2)
PITPNB (22q12.1) / CCDC117 (22q12.1)TOM1 (22q12.3) / PITPNB (22q12.1)TTC28 (22q12.1) / PITPNB (22q12.1)
VPS13D (1p36.22) / PITPNB (22q12.1)ZMYND8 (20q13.12) / PITPNB (22q12.1)TOM1 22q12.3 / PITPNB 22q12.1
ZMYND8 20q13.12 / PITPNB 22q12.1

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)PITPNB   9002
Cards
Entrez_Gene (NCBI)PITPNB  23760  phosphatidylinositol transfer protein beta
AliasesPI-TP-beta; PtdInsTP; VIB1B
GeneCards (Weizmann)PITPNB
Ensembl hg19 (Hinxton)ENSG00000180957 [Gene_View]  chr22:28247657-28315294 [Contig_View]  PITPNB [Vega]
Ensembl hg38 (Hinxton)ENSG00000180957 [Gene_View]  chr22:28247657-28315294 [Contig_View]  PITPNB [Vega]
ICGC DataPortalENSG00000180957
TCGA cBioPortalPITPNB
AceView (NCBI)PITPNB
Genatlas (Paris)PITPNB
WikiGenes23760
SOURCE (Princeton)PITPNB
Genetics Home Reference (NIH)PITPNB
Genomic and cartography
GoldenPath hg19 (UCSC)PITPNB  -     chr22:28247657-28315294 -  22q12.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PITPNB  -     22q12.1   [Description]    (hg38-Dec_2013)
EnsemblPITPNB - 22q12.1 [CytoView hg19]  PITPNB - 22q12.1 [CytoView hg38]
Mapping of homologs : NCBIPITPNB [Mapview hg19]  PITPNB [Mapview hg38]
OMIM606876   
Gene and transcription
Genbank (Entrez)AK123384 AK302367 AK313064 BC018704 BC031427
RefSeq transcript (Entrez)NM_001284277 NM_001284278 NM_012399
RefSeq genomic (Entrez)NC_000022 NC_018933 NT_011520 NW_004929430
Consensus coding sequences : CCDS (NCBI)PITPNB
Cluster EST : UnigeneHs.705323 [ NCBI ]
CGAP (NCI)Hs.705323
Alternative Splicing GalleryENSG00000180957
Gene ExpressionPITPNB [ NCBI-GEO ]   PITPNB [ EBI - ARRAY_EXPRESS ]   PITPNB [ SEEK ]   PITPNB [ MEM ]
Gene Expression Viewer (FireBrowse)PITPNB [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23760
GTEX Portal (Tissue expression)PITPNB
Protein : pattern, domain, 3D structure
UniProt/SwissProtP48739   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP48739  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP48739
Splice isoforms : SwissVarP48739
PhosPhoSitePlusP48739
Domains : Interpro (EBI)PI_transfer    START-like_dom   
Domain families : Pfam (Sanger)IP_trans (PF02121)   
Domain families : Pfam (NCBI)pfam02121   
Conserved Domain (NCBI)PITPNB
DMDM Disease mutations23760
Blocks (Seattle)PITPNB
SuperfamilyP48739
Human Protein AtlasENSG00000180957
Peptide AtlasP48739
HPRD06044
IPIIPI00334907   IPI01014285   IPI00395939   IPI00878839   IPI00917134   IPI00917005   
Protein Interaction databases
DIP (DOE-UCLA)P48739
IntAct (EBI)P48739
FunCoupENSG00000180957
BioGRIDPITPNB
STRING (EMBL)PITPNB
ZODIACPITPNB
Ontologies - Pathways
QuickGOP48739
Ontology : AmiGOGolgi membrane  endoplasmic reticulum membrane  lipid metabolic process  lipid binding  phospholipid transport  extracellular exosome  
Ontology : EGO-EBIGolgi membrane  endoplasmic reticulum membrane  lipid metabolic process  lipid binding  phospholipid transport  extracellular exosome  
NDEx NetworkPITPNB
Atlas of Cancer Signalling NetworkPITPNB
Wikipedia pathwaysPITPNB
Orthology - Evolution
OrthoDB23760
GeneTree (enSembl)ENSG00000180957
Phylogenetic Trees/Animal Genes : TreeFamPITPNB
HOVERGENP48739
HOGENOMP48739
Homologs : HomoloGenePITPNB
Homology/Alignments : Family Browser (UCSC)PITPNB
Gene fusions - Rearrangements
Fusion : MitelmanTOM1/PITPNB [22q12.3/22q12.1]  [t(22;22)(q12;q12)]  
Fusion : MitelmanZMYND8/PITPNB [20q13.12/22q12.1]  [t(20;22)(q13;q12)]  
Fusion: TCGATOM1 22q12.3 PITPNB 22q12.1 BRCA
Fusion: TCGAZMYND8 20q13.12 PITPNB 22q12.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPITPNB [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PITPNB
dbVarPITPNB
ClinVarPITPNB
1000_GenomesPITPNB 
Exome Variant ServerPITPNB
ExAC (Exome Aggregation Consortium)PITPNB (select the gene name)
Genetic variants : HAPMAP23760
Genomic Variants (DGV)PITPNB [DGVbeta]
DECIPHER (Syndromes)22:28247657-28315294  ENSG00000180957
CONAN: Copy Number AnalysisPITPNB 
Mutations
ICGC Data PortalPITPNB 
TCGA Data PortalPITPNB 
Broad Tumor PortalPITPNB
OASIS PortalPITPNB [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPITPNB  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPITPNB
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 PITPNB
DgiDB (Drug Gene Interaction Database)PITPNB
DoCM (Curated mutations)PITPNB (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PITPNB (select a term)
intoGenPITPNB
Cancer3DPITPNB(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606876   
Orphanet
MedgenPITPNB
Genetic Testing Registry PITPNB
NextProtP48739 [Medical]
TSGene23760
GENETestsPITPNB
Huge Navigator PITPNB [HugePedia]
snp3D : Map Gene to Disease23760
BioCentury BCIQPITPNB
ClinGenPITPNB
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23760
Chemical/Pharm GKB GenePA33336
Clinical trialPITPNB
Miscellaneous
canSAR (ICR)PITPNB (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePITPNB
EVEXPITPNB
GoPubMedPITPNB
iHOPPITPNB
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:21:31 CET 2017

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