Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CNEP1R1 (CTD nuclear envelope phosphatase 1 regulatory subunit 1)

Identity

Alias_namesC16orf69
TMEM188
chromosome 16 open reading frame 69
transmembrane protein 188
Alias_symbol (synonym)FLJ38101
NEP1-R1
Other aliasNEP1R1
TMP125
HGNC (Hugo) CNEP1R1
LocusID (NCBI) 255919
Atlas_Id 61930
Location 16q12.1  [Link to chromosome band 16q12]
Location_base_pair Starts at 50025206 and ends at 50037088 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)
CNEP1R1 (16q12.1) / ANK1 (8p11.21)

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)CNEP1R1   26759
Cards
Entrez_Gene (NCBI)CNEP1R1  255919  CTD nuclear envelope phosphatase 1 regulatory subunit 1
AliasesC16orf69; NEP1-R1; NEP1R1; TMEM188; 
TMP125
GeneCards (Weizmann)CNEP1R1
Ensembl hg19 (Hinxton)ENSG00000205423 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000205423 [Gene_View]  chr16:50025206-50037088 [Contig_View]  CNEP1R1 [Vega]
ICGC DataPortalENSG00000205423
TCGA cBioPortalCNEP1R1
AceView (NCBI)CNEP1R1
Genatlas (Paris)CNEP1R1
WikiGenes255919
SOURCE (Princeton)CNEP1R1
Genetics Home Reference (NIH)CNEP1R1
Genomic and cartography
GoldenPath hg38 (UCSC)CNEP1R1  -     chr16:50025206-50037088 +  16q12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CNEP1R1  -     16q12.1   [Description]    (hg19-Feb_2009)
EnsemblCNEP1R1 - 16q12.1 [CytoView hg19]  CNEP1R1 - 16q12.1 [CytoView hg38]
Mapping of homologs : NCBICNEP1R1 [Mapview hg19]  CNEP1R1 [Mapview hg38]
OMIM616869   
Gene and transcription
Genbank (Entrez)AF086322 AK095420 AK301610 AK307132 AK307309
RefSeq transcript (Entrez)NM_001281789 NM_153261
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CNEP1R1
Cluster EST : UnigeneHs.59134 [ NCBI ]
CGAP (NCI)Hs.59134
Alternative Splicing GalleryENSG00000205423
Gene ExpressionCNEP1R1 [ NCBI-GEO ]   CNEP1R1 [ EBI - ARRAY_EXPRESS ]   CNEP1R1 [ SEEK ]   CNEP1R1 [ MEM ]
Gene Expression Viewer (FireBrowse)CNEP1R1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)255919
GTEX Portal (Tissue expression)CNEP1R1
Human Protein AtlasENSG00000205423-CNEP1R1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N9A8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N9A8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N9A8
Splice isoforms : SwissVarQ8N9A8
PhosPhoSitePlusQ8N9A8
Domains : Interpro (EBI)NEP1-R1   
Domain families : Pfam (Sanger)Tmemb_18A (PF09771)   
Domain families : Pfam (NCBI)pfam09771   
Conserved Domain (NCBI)CNEP1R1
DMDM Disease mutations255919
Blocks (Seattle)CNEP1R1
SuperfamilyQ8N9A8
Human Protein Atlas [tissue]ENSG00000205423-CNEP1R1 [tissue]
Peptide AtlasQ8N9A8
HPRD08784
IPIIPI00642269   IPI00168567   IPI00784036   
Protein Interaction databases
DIP (DOE-UCLA)Q8N9A8
IntAct (EBI)Q8N9A8
FunCoupENSG00000205423
BioGRIDCNEP1R1
STRING (EMBL)CNEP1R1
ZODIACCNEP1R1
Ontologies - Pathways
QuickGOQ8N9A8
Ontology : AmiGOprotein binding  nuclear envelope  cytoplasm  cytosol  lipid metabolic process  mitotic nuclear envelope disassembly  positive regulation of triglyceride biosynthetic process  integral component of membrane  nuclear membrane  protein localization to nucleus  positive regulation of protein dephosphorylation  Nem1-Spo7 phosphatase complex  
Ontology : EGO-EBIprotein binding  nuclear envelope  cytoplasm  cytosol  lipid metabolic process  mitotic nuclear envelope disassembly  positive regulation of triglyceride biosynthetic process  integral component of membrane  nuclear membrane  protein localization to nucleus  positive regulation of protein dephosphorylation  Nem1-Spo7 phosphatase complex  
NDEx NetworkCNEP1R1
Atlas of Cancer Signalling NetworkCNEP1R1
Wikipedia pathwaysCNEP1R1
Orthology - Evolution
OrthoDB255919
GeneTree (enSembl)ENSG00000205423
Phylogenetic Trees/Animal Genes : TreeFamCNEP1R1
HOVERGENQ8N9A8
HOGENOMQ8N9A8
Homologs : HomoloGeneCNEP1R1
Homology/Alignments : Family Browser (UCSC)CNEP1R1
Gene fusions - Rearrangements
Tumor Fusion PortalCNEP1R1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCNEP1R1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CNEP1R1
dbVarCNEP1R1
ClinVarCNEP1R1
1000_GenomesCNEP1R1 
Exome Variant ServerCNEP1R1
ExAC (Exome Aggregation Consortium)ENSG00000205423
GNOMAD BrowserENSG00000205423
Genetic variants : HAPMAP255919
Genomic Variants (DGV)CNEP1R1 [DGVbeta]
DECIPHERCNEP1R1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCNEP1R1 
Mutations
ICGC Data PortalCNEP1R1 
TCGA Data PortalCNEP1R1 
Broad Tumor PortalCNEP1R1
OASIS PortalCNEP1R1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDCNEP1R1
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 CNEP1R1
DgiDB (Drug Gene Interaction Database)CNEP1R1
DoCM (Curated mutations)CNEP1R1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CNEP1R1 (select a term)
intoGenCNEP1R1
Cancer3DCNEP1R1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616869   
Orphanet
DisGeNETCNEP1R1
MedgenCNEP1R1
Genetic Testing Registry CNEP1R1
NextProtQ8N9A8 [Medical]
TSGene255919
GENETestsCNEP1R1
Target ValidationCNEP1R1
Huge Navigator CNEP1R1 [HugePedia]
snp3D : Map Gene to Disease255919
BioCentury BCIQCNEP1R1
ClinGenCNEP1R1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD255919
Chemical/Pharm GKB GenePA162406208
Clinical trialCNEP1R1
Miscellaneous
canSAR (ICR)CNEP1R1 (select the gene name)
Probes
Litterature
PubMed6 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCNEP1R1
EVEXCNEP1R1
GoPubMedCNEP1R1
iHOPCNEP1R1
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 : Tue Nov 21 13:33:04 CET 2017

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