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CLPTM1 (CLPTM1, transmembrane protein)

Identity

Alias_namescleft lip and palate associated transmembrane protein 1
Other alias-
HGNC (Hugo) CLPTM1
LocusID (NCBI) 1209
Atlas_Id 45641
Location 19q13.32  [Link to chromosome band 19q13]
Location_base_pair Starts at 44954993 and ends at 44993346 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CLASRP (19q13.32) / CLPTM1 (19q13.32)CLPTM1 (19q13.32) / AP1M1 (19p13.11)CLPTM1 (19q13.32) / CEACAM16 (19q13.32)
CLPTM1 (19q13.32) / CYP2A7 (19q13.2)CLPTM1 (19q13.32) / IGSF23 (19q13.31)CLPTM1 (19q13.32) / PNPO (17q21.32)
CLPTM1 (19q13.32) / RPL13 (16q24.3)RHOB (2p24.1) / CLPTM1 (19q13.32)CLPTM1 19q13.32 / AP1M1 19p13.11
CLPTM1 19q13.32 / CEACAM16 19q13.32CLPTM1 19q13.32 / CYP2A7 19q13.2CLPTM1 19q13.32 / IGSF23 19q13.31

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)CLPTM1   2087
Cards
Entrez_Gene (NCBI)CLPTM1  1209  CLPTM1, transmembrane protein
Aliases
GeneCards (Weizmann)CLPTM1
Ensembl hg19 (Hinxton)ENSG00000104853 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000104853 [Gene_View]  chr19:44954993-44993346 [Contig_View]  CLPTM1 [Vega]
ICGC DataPortalENSG00000104853
TCGA cBioPortalCLPTM1
AceView (NCBI)CLPTM1
Genatlas (Paris)CLPTM1
WikiGenes1209
SOURCE (Princeton)CLPTM1
Genetics Home Reference (NIH)CLPTM1
Genomic and cartography
GoldenPath hg38 (UCSC)CLPTM1  -     chr19:44954993-44993346 +  19q13.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CLPTM1  -     19q13.32   [Description]    (hg19-Feb_2009)
EnsemblCLPTM1 - 19q13.32 [CytoView hg19]  CLPTM1 - 19q13.32 [CytoView hg38]
Mapping of homologs : NCBICLPTM1 [Mapview hg19]  CLPTM1 [Mapview hg38]
OMIM604783   
Gene and transcription
Genbank (Entrez)AF037339 AK027698 AK074935 AK075262 AK223553
RefSeq transcript (Entrez)NM_001199468 NM_001282175 NM_001282176 NM_001294
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CLPTM1
Cluster EST : UnigeneHs.444441 [ NCBI ]
CGAP (NCI)Hs.444441
Alternative Splicing GalleryENSG00000104853
Gene ExpressionCLPTM1 [ NCBI-GEO ]   CLPTM1 [ EBI - ARRAY_EXPRESS ]   CLPTM1 [ SEEK ]   CLPTM1 [ MEM ]
Gene Expression Viewer (FireBrowse)CLPTM1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1209
GTEX Portal (Tissue expression)CLPTM1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO96005   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO96005  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO96005
Splice isoforms : SwissVarO96005
PhosPhoSitePlusO96005
Domains : Interpro (EBI)CLPTM1   
Domain families : Pfam (Sanger)CLPTM1 (PF05602)   
Domain families : Pfam (NCBI)pfam05602   
Conserved Domain (NCBI)CLPTM1
DMDM Disease mutations1209
Blocks (Seattle)CLPTM1
SuperfamilyO96005
Human Protein AtlasENSG00000104853
Peptide AtlasO96005
IPIIPI00396411   IPI00107357   IPI01011294   IPI01011759   
Protein Interaction databases
DIP (DOE-UCLA)O96005
IntAct (EBI)O96005
FunCoupENSG00000104853
BioGRIDCLPTM1
STRING (EMBL)CLPTM1
ZODIACCLPTM1
Ontologies - Pathways
QuickGOO96005
Ontology : AmiGOprotein binding  integral component of plasma membrane  multicellular organism development  external side of plasma membrane  membrane  cell differentiation  regulation of T cell differentiation in thymus  
Ontology : EGO-EBIprotein binding  integral component of plasma membrane  multicellular organism development  external side of plasma membrane  membrane  cell differentiation  regulation of T cell differentiation in thymus  
NDEx NetworkCLPTM1
Atlas of Cancer Signalling NetworkCLPTM1
Wikipedia pathwaysCLPTM1
Orthology - Evolution
OrthoDB1209
GeneTree (enSembl)ENSG00000104853
Phylogenetic Trees/Animal Genes : TreeFamCLPTM1
HOVERGENO96005
HOGENOMO96005
Homologs : HomoloGeneCLPTM1
Homology/Alignments : Family Browser (UCSC)CLPTM1
Gene fusions - Rearrangements
Fusion : MitelmanCLPTM1/AP1M1 [19q13.32/19p13.11]  
Fusion : MitelmanCLPTM1/CEACAM16 [19q13.32/19q13.32]  [t(19;19)(q13;q13)]  
Fusion : MitelmanCLPTM1/CYP2A7 [19q13.32/19q13.2]  [t(19;19)(q13;q13)]  
Fusion : MitelmanCLPTM1/IGSF23 [19q13.32/19q13.31]  [t(19;19)(q13;q13)]  
Fusion: TCGACLPTM1 19q13.32 AP1M1 19p13.11 LUAD
Fusion: TCGACLPTM1 19q13.32 CEACAM16 19q13.32 LUSC
Fusion: TCGACLPTM1 19q13.32 CYP2A7 19q13.2 BRCA
Fusion: TCGACLPTM1 19q13.32 IGSF23 19q13.31 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCLPTM1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CLPTM1
dbVarCLPTM1
ClinVarCLPTM1
1000_GenomesCLPTM1 
Exome Variant ServerCLPTM1
ExAC (Exome Aggregation Consortium)CLPTM1 (select the gene name)
Genetic variants : HAPMAP1209
Genomic Variants (DGV)CLPTM1 [DGVbeta]
DECIPHERCLPTM1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCLPTM1 
Mutations
ICGC Data PortalCLPTM1 
TCGA Data PortalCLPTM1 
Broad Tumor PortalCLPTM1
OASIS PortalCLPTM1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCLPTM1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCLPTM1
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 CLPTM1
DgiDB (Drug Gene Interaction Database)CLPTM1
DoCM (Curated mutations)CLPTM1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CLPTM1 (select a term)
intoGenCLPTM1
Cancer3DCLPTM1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604783   
Orphanet
MedgenCLPTM1
Genetic Testing Registry CLPTM1
NextProtO96005 [Medical]
TSGene1209
GENETestsCLPTM1
Target ValidationCLPTM1
Huge Navigator CLPTM1 [HugePedia]
snp3D : Map Gene to Disease1209
BioCentury BCIQCLPTM1
ClinGenCLPTM1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1209
Chemical/Pharm GKB GenePA26613
Clinical trialCLPTM1
Miscellaneous
canSAR (ICR)CLPTM1 (select the gene name)
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCLPTM1
EVEXCLPTM1
GoPubMedCLPTM1
iHOPCLPTM1
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 12:28:48 CEST 2017

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