Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PKD1L1 (polycystin 1 like 1, transient receptor potential channel interacting)

Identity

Alias_namespolycystic kidney disease 1 like 1
Alias_symbol (synonym)PRO19563
Other aliasHTX8
HGNC (Hugo) PKD1L1
LocusID (NCBI) 168507
Atlas_Id 53033
Location 7p12.3  [Link to chromosome band 7p12]
Location_base_pair Starts at 47774652 and ends at 47948491 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
BBS9 (7p14.3) / PKD1L1 (7p12.3)RIF1 (2q23.3) / PKD1L1 (7p12.3)TNS3 (7p12.3) / PKD1L1 (7p12.3)
BBS9 7p14.3 / PKD1L1 7p12.3

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)PKD1L1   18053
Cards
Entrez_Gene (NCBI)PKD1L1  168507  polycystin 1 like 1, transient receptor potential channel interacting
AliasesHTX8; PRO19563
GeneCards (Weizmann)PKD1L1
Ensembl hg19 (Hinxton)ENSG00000158683 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000158683 [Gene_View]  chr7:47774652-47948491 [Contig_View]  PKD1L1 [Vega]
ICGC DataPortalENSG00000158683
TCGA cBioPortalPKD1L1
AceView (NCBI)PKD1L1
Genatlas (Paris)PKD1L1
WikiGenes168507
SOURCE (Princeton)PKD1L1
Genetics Home Reference (NIH)PKD1L1
Genomic and cartography
GoldenPath hg38 (UCSC)PKD1L1  -     chr7:47774652-47948491 -  7p12.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PKD1L1  -     7p12.3   [Description]    (hg19-Feb_2009)
EnsemblPKD1L1 - 7p12.3 [CytoView hg19]  PKD1L1 - 7p12.3 [CytoView hg38]
Mapping of homologs : NCBIPKD1L1 [Mapview hg19]  PKD1L1 [Mapview hg38]
OMIM609721   617205   
Gene and transcription
Genbank (Entrez)AB061683 AI860869 AY358757 BF062285 CN283529
RefSeq transcript (Entrez)NM_138295
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PKD1L1
Cluster EST : UnigeneHs.195979 [ NCBI ]
CGAP (NCI)Hs.195979
Alternative Splicing GalleryENSG00000158683
Gene ExpressionPKD1L1 [ NCBI-GEO ]   PKD1L1 [ EBI - ARRAY_EXPRESS ]   PKD1L1 [ SEEK ]   PKD1L1 [ MEM ]
Gene Expression Viewer (FireBrowse)PKD1L1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)168507
GTEX Portal (Tissue expression)PKD1L1
Human Protein AtlasENSG00000158683-PKD1L1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TDX9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TDX9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TDX9
Splice isoforms : SwissVarQ8TDX9
PhosPhoSitePlusQ8TDX9
Domaine pattern : Prosite (Expaxy)PKD (PS50093)    PLAT (PS50095)    REJ (PS51111)   
Domains : Interpro (EBI)PKD/Chitinase_dom    PKD/REJ-like    PKD1_2_channel    PKD_dom    PLAT/LH2_dom    REJ_dom   
Domain families : Pfam (Sanger)PKD (PF00801)    PKD_channel (PF08016)    PLAT (PF01477)    REJ (PF02010)   
Domain families : Pfam (NCBI)pfam00801    pfam08016    pfam01477    pfam02010   
Domain families : Smart (EMBL)LH2 (SM00308)  PKD (SM00089)  
Conserved Domain (NCBI)PKD1L1
DMDM Disease mutations168507
Blocks (Seattle)PKD1L1
SuperfamilyQ8TDX9
Human Protein Atlas [tissue]ENSG00000158683-PKD1L1 [tissue]
Peptide AtlasQ8TDX9
HPRD10154
IPIIPI00152661   IPI00554464   
Protein Interaction databases
DIP (DOE-UCLA)Q8TDX9
IntAct (EBI)Q8TDX9
FunCoupENSG00000158683
BioGRIDPKD1L1
STRING (EMBL)PKD1L1
ZODIACPKD1L1
Ontologies - Pathways
QuickGOQ8TDX9
Ontology : AmiGOdetection of nodal flow  calcium channel activity  protein binding  cilium  membrane  single organismal cell-cell adhesion  calcium channel complex  detection of mechanical stimulus  ciliary membrane  calcium ion transmembrane transport  left/right axis specification  non-motile cilium  
Ontology : EGO-EBIdetection of nodal flow  calcium channel activity  protein binding  cilium  membrane  single organismal cell-cell adhesion  calcium channel complex  detection of mechanical stimulus  ciliary membrane  calcium ion transmembrane transport  left/right axis specification  non-motile cilium  
NDEx NetworkPKD1L1
Atlas of Cancer Signalling NetworkPKD1L1
Wikipedia pathwaysPKD1L1
Orthology - Evolution
OrthoDB168507
GeneTree (enSembl)ENSG00000158683
Phylogenetic Trees/Animal Genes : TreeFamPKD1L1
HOVERGENQ8TDX9
HOGENOMQ8TDX9
Homologs : HomoloGenePKD1L1
Homology/Alignments : Family Browser (UCSC)PKD1L1
Gene fusions - Rearrangements
Fusion : MitelmanRIF1/PKD1L1 [2q23.3/7p12.3]  [t(2;7)(q23;p12)]  
Fusion : MitelmanTNS3/PKD1L1 [7p12.3/7p12.3]  [t(7;7)(p12;p12)]  
Fusion: Tumor Portal PKD1L1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPKD1L1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PKD1L1
dbVarPKD1L1
ClinVarPKD1L1
1000_GenomesPKD1L1 
Exome Variant ServerPKD1L1
ExAC (Exome Aggregation Consortium)ENSG00000158683
GNOMAD BrowserENSG00000158683
Genetic variants : HAPMAP168507
Genomic Variants (DGV)PKD1L1 [DGVbeta]
DECIPHERPKD1L1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPKD1L1 
Mutations
ICGC Data PortalPKD1L1 
TCGA Data PortalPKD1L1 
Broad Tumor PortalPKD1L1
OASIS PortalPKD1L1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPKD1L1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPKD1L1
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 PKD1L1
DgiDB (Drug Gene Interaction Database)PKD1L1
DoCM (Curated mutations)PKD1L1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PKD1L1 (select a term)
intoGenPKD1L1
Cancer3DPKD1L1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609721    617205   
Orphanet
MedgenPKD1L1
Genetic Testing Registry PKD1L1
NextProtQ8TDX9 [Medical]
TSGene168507
GENETestsPKD1L1
Target ValidationPKD1L1
Huge Navigator PKD1L1 [HugePedia]
snp3D : Map Gene to Disease168507
BioCentury BCIQPKD1L1
ClinGenPKD1L1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD168507
Chemical/Pharm GKB GenePA38282
Clinical trialPKD1L1
Miscellaneous
canSAR (ICR)PKD1L1 (select the gene name)
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePKD1L1
EVEXPKD1L1
GoPubMedPKD1L1
iHOPPKD1L1
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 : Thu Nov 9 13:05:16 CET 2017

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