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PKHD1L1 (PKHD1 like 1)

Identity

Other aliasPKHDL1
HGNC (Hugo) PKHD1L1
LocusID (NCBI) 93035
Atlas_Id 54537
Location 8q23.1  [Link to chromosome band 8q23]
Location_base_pair Starts at 109362477 and ends at 109531271 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
GIN1 (5q21.1) / PKHD1L1 (8q23.1)PKHD1L1 (8q23.1) / MACF1 (1p34.3)PTK2 (8q24.3) / PKHD1L1 (8q23.1)

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

 


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


External links

Nomenclature
HGNC (Hugo)PKHD1L1   20313
Cards
Entrez_Gene (NCBI)PKHD1L1  93035  PKHD1 like 1
AliasesPKHDL1
GeneCards (Weizmann)PKHD1L1
Ensembl hg19 (Hinxton)ENSG00000205038 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000205038 [Gene_View]  chr8:109362477-109531271 [Contig_View]  PKHD1L1 [Vega]
ICGC DataPortalENSG00000205038
TCGA cBioPortalPKHD1L1
AceView (NCBI)PKHD1L1
Genatlas (Paris)PKHD1L1
WikiGenes93035
SOURCE (Princeton)PKHD1L1
Genetics Home Reference (NIH)PKHD1L1
Genomic and cartography
GoldenPath hg38 (UCSC)PKHD1L1  -     chr8:109362477-109531271 +  8q23.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PKHD1L1  -     8q23.1   [Description]    (hg19-Feb_2009)
EnsemblPKHD1L1 - 8q23.1 [CytoView hg19]  PKHD1L1 - 8q23.1 [CytoView hg38]
Mapping of homologs : NCBIPKHD1L1 [Mapview hg19]  PKHD1L1 [Mapview hg38]
OMIM607843   
Gene and transcription
Genbank (Entrez)AK131338 AL133640 AY219181 BC093096 BG186508
RefSeq transcript (Entrez)NM_177531
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PKHD1L1
Cluster EST : UnigeneHs.170128 [ NCBI ]
CGAP (NCI)Hs.170128
Alternative Splicing GalleryENSG00000205038
Gene ExpressionPKHD1L1 [ NCBI-GEO ]   PKHD1L1 [ EBI - ARRAY_EXPRESS ]   PKHD1L1 [ SEEK ]   PKHD1L1 [ MEM ]
Gene Expression Viewer (FireBrowse)PKHD1L1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)93035
GTEX Portal (Tissue expression)PKHD1L1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ86WI1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ86WI1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ86WI1
Splice isoforms : SwissVarQ86WI1
PhosPhoSitePlusQ86WI1
Domaine pattern : Prosite (Expaxy)G8 (PS51484)    PA14 (PS51820)   
Domains : Interpro (EBI)Cupredoxin    G8_domain    Ig-like_fold    Ig_E-set    IPT    PA14_dom    PbH1    Pectin_lyase_fold/virulence    PKHDL1   
Domain families : Pfam (Sanger)G8 (PF10162)    PA14 (PF07691)    TIG (PF01833)   
Domain families : Pfam (NCBI)pfam10162    pfam07691    pfam01833   
Domain families : Smart (EMBL)G8 (SM01225)  IPT (SM00429)  PA14 (SM00758)  PbH1 (SM00710)  
Conserved Domain (NCBI)PKHD1L1
DMDM Disease mutations93035
Blocks (Seattle)PKHD1L1
SuperfamilyQ86WI1
Human Protein AtlasENSG00000205038
Peptide AtlasQ86WI1
HPRD09703
IPIIPI00940315   IPI01011323   
Protein Interaction databases
DIP (DOE-UCLA)Q86WI1
IntAct (EBI)Q86WI1
FunCoupENSG00000205038
BioGRIDPKHD1L1
STRING (EMBL)PKHD1L1
ZODIACPKHD1L1
Ontologies - Pathways
QuickGOQ86WI1
Ontology : AmiGOreceptor activity  extracellular space  cytosol  cilium  immune response  integral component of membrane  
Ontology : EGO-EBIreceptor activity  extracellular space  cytosol  cilium  immune response  integral component of membrane  
NDEx NetworkPKHD1L1
Atlas of Cancer Signalling NetworkPKHD1L1
Wikipedia pathwaysPKHD1L1
Orthology - Evolution
OrthoDB93035
GeneTree (enSembl)ENSG00000205038
Phylogenetic Trees/Animal Genes : TreeFamPKHD1L1
HOVERGENQ86WI1
HOGENOMQ86WI1
Homologs : HomoloGenePKHD1L1
Homology/Alignments : Family Browser (UCSC)PKHD1L1
Gene fusions - Rearrangements
Fusion : MitelmanGIN1/PKHD1L1 [5q21.1/8q23.1]  [t(5;8)(q21;q23)]  
Fusion : MitelmanPTK2/PKHD1L1 [8q24.3/8q23.1]  [t(8;8)(q23;q24)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPKHD1L1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PKHD1L1
dbVarPKHD1L1
ClinVarPKHD1L1
1000_GenomesPKHD1L1 
Exome Variant ServerPKHD1L1
ExAC (Exome Aggregation Consortium)PKHD1L1 (select the gene name)
Genetic variants : HAPMAP93035
Genomic Variants (DGV)PKHD1L1 [DGVbeta]
DECIPHERPKHD1L1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPKHD1L1 
Mutations
ICGC Data PortalPKHD1L1 
TCGA Data PortalPKHD1L1 
Broad Tumor PortalPKHD1L1
OASIS PortalPKHD1L1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPKHD1L1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPKHD1L1
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 PKHD1L1
DgiDB (Drug Gene Interaction Database)PKHD1L1
DoCM (Curated mutations)PKHD1L1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PKHD1L1 (select a term)
intoGenPKHD1L1
Cancer3DPKHD1L1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607843   
Orphanet
MedgenPKHD1L1
Genetic Testing Registry PKHD1L1
NextProtQ86WI1 [Medical]
TSGene93035
GENETestsPKHD1L1
Target ValidationPKHD1L1
Huge Navigator PKHD1L1 [HugePedia]
snp3D : Map Gene to Disease93035
BioCentury BCIQPKHD1L1
ClinGenPKHD1L1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD93035
Chemical/Pharm GKB GenePA134950222
Clinical trialPKHD1L1
Miscellaneous
canSAR (ICR)PKHD1L1 (select the gene name)
Probes
Litterature
PubMed6 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePKHD1L1
EVEXPKHD1L1
GoPubMedPKHD1L1
iHOPPKHD1L1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:49:38 CEST 2017

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