Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CLINT1 (clathrin interactor 1)

Identity

Alias_symbol (synonym)ENTH
KIAA0171
EPNR
CLINT
Other aliasEPN4
HGNC (Hugo) CLINT1
LocusID (NCBI) 9685
Atlas_Id 61888
Location 5q33.3  [Link to chromosome band 5q33]
Location_base_pair Starts at 157785743 and ends at 157859175 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)
CLINT1 (5q33.3) / CLINT1 (5q33.3)CLINT1 (5q33.3) / MARCH11 (5p15.1)CLINT1 (5q33.3) / MEF2C (5q14.3)
CLINT1 (5q33.3) / NEDD9 (6p24.2)HARS (5q31.3) / CLINT1 (5q33.3)HFM1 (1p22.2) / CLINT1 (5q33.3)
NEDD9 (6p24.2) / CLINT1 (5q33.3)

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

 

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(5;5)(q14;q33) CLINT1/MEF2C
t(5;5)(q14;q33) CLINT1/MEF2C

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(5;5)(p15;q33) CLINT1/MARCH11
t(5;5)(q31;q33) HARS/CLINT1

External links

Nomenclature
HGNC (Hugo)CLINT1   23186
Cards
Entrez_Gene (NCBI)CLINT1  9685  clathrin interactor 1
AliasesCLINT; ENTH; EPN4; EPNR
GeneCards (Weizmann)CLINT1
Ensembl hg19 (Hinxton)ENSG00000113282 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000113282 [Gene_View]  ENSG00000113282 [Sequence]  chr5:157785743-157859175 [Contig_View]  CLINT1 [Vega]
ICGC DataPortalENSG00000113282
TCGA cBioPortalCLINT1
AceView (NCBI)CLINT1
Genatlas (Paris)CLINT1
WikiGenes9685
SOURCE (Princeton)CLINT1
Genetics Home Reference (NIH)CLINT1
Genomic and cartography
GoldenPath hg38 (UCSC)CLINT1  -     chr5:157785743-157859175 -  5q33.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CLINT1  -     5q33.3   [Description]    (hg19-Feb_2009)
EnsemblCLINT1 - 5q33.3 [CytoView hg19]  CLINT1 - 5q33.3 [CytoView hg38]
Mapping of homologs : NCBICLINT1 [Mapview hg19]  CLINT1 [Mapview hg38]
OMIM607265   
Gene and transcription
Genbank (Entrez)AF434813 AK092765 AK128594 AK300257 AL529948
RefSeq transcript (Entrez)NM_001195555 NM_001195556 NM_014666
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CLINT1
Cluster EST : UnigeneHs.644000 [ NCBI ]
CGAP (NCI)Hs.644000
Alternative Splicing GalleryENSG00000113282
Gene ExpressionCLINT1 [ NCBI-GEO ]   CLINT1 [ EBI - ARRAY_EXPRESS ]   CLINT1 [ SEEK ]   CLINT1 [ MEM ]
Gene Expression Viewer (FireBrowse)CLINT1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9685
GTEX Portal (Tissue expression)CLINT1
Human Protein AtlasENSG00000113282-CLINT1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14677   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14677  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14677
Splice isoforms : SwissVarQ14677
PhosPhoSitePlusQ14677
Domaine pattern : Prosite (Expaxy)ENTH (PS50942)   
Domains : Interpro (EBI)CLINT1    ENTH    ENTH_VHS   
Domain families : Pfam (Sanger)ENTH (PF01417)   
Domain families : Pfam (NCBI)pfam01417   
Domain families : Smart (EMBL)ENTH (SM00273)  
Conserved Domain (NCBI)CLINT1
DMDM Disease mutations9685
Blocks (Seattle)CLINT1
PDB (SRS)1XGW    2QY7    2V8S   
PDB (PDBSum)1XGW    2QY7    2V8S   
PDB (IMB)1XGW    2QY7    2V8S   
PDB (RSDB)1XGW    2QY7    2V8S   
Structural Biology KnowledgeBase1XGW    2QY7    2V8S   
SCOP (Structural Classification of Proteins)1XGW    2QY7    2V8S   
CATH (Classification of proteins structures)1XGW    2QY7    2V8S   
SuperfamilyQ14677
Human Protein Atlas [tissue]ENSG00000113282-CLINT1 [tissue]
Peptide AtlasQ14677
HPRD06273
IPIIPI00291930   IPI00397519   IPI00975549   IPI00978547   IPI00983007   IPI00982138   
Protein Interaction databases
DIP (DOE-UCLA)Q14677
IntAct (EBI)Q14677
FunCoupENSG00000113282
BioGRIDCLINT1
STRING (EMBL)CLINT1
ZODIACCLINT1
Ontologies - Pathways
QuickGOQ14677
Ontology : AmiGOprotein binding  nucleoplasm  Golgi apparatus  cytosol  endocytosis  lipid binding  membrane  clathrin-coated vesicle  clathrin binding  intracellular membrane-bounded organelle  cadherin binding  clathrin coat assembly  perinuclear region of cytoplasm  
Ontology : EGO-EBIprotein binding  nucleoplasm  Golgi apparatus  cytosol  endocytosis  lipid binding  membrane  clathrin-coated vesicle  clathrin binding  intracellular membrane-bounded organelle  cadherin binding  clathrin coat assembly  perinuclear region of cytoplasm  
NDEx NetworkCLINT1
Atlas of Cancer Signalling NetworkCLINT1
Wikipedia pathwaysCLINT1
Orthology - Evolution
OrthoDB9685
GeneTree (enSembl)ENSG00000113282
Phylogenetic Trees/Animal Genes : TreeFamCLINT1
HOVERGENQ14677
HOGENOMQ14677
Homologs : HomoloGeneCLINT1
Homology/Alignments : Family Browser (UCSC)CLINT1
Gene fusions - Rearrangements
Fusion : QuiverCLINT1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCLINT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CLINT1
dbVarCLINT1
ClinVarCLINT1
1000_GenomesCLINT1 
Exome Variant ServerCLINT1
ExAC (Exome Aggregation Consortium)ENSG00000113282
GNOMAD BrowserENSG00000113282
Varsome BrowserCLINT1
Genetic variants : HAPMAP9685
Genomic Variants (DGV)CLINT1 [DGVbeta]
DECIPHERCLINT1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCLINT1 
Mutations
ICGC Data PortalCLINT1 
TCGA Data PortalCLINT1 
Broad Tumor PortalCLINT1
OASIS PortalCLINT1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCLINT1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCLINT1
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 CLINT1
DgiDB (Drug Gene Interaction Database)CLINT1
DoCM (Curated mutations)CLINT1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CLINT1 (select a term)
intoGenCLINT1
Cancer3DCLINT1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607265   
Orphanet
DisGeNETCLINT1
MedgenCLINT1
Genetic Testing Registry CLINT1
NextProtQ14677 [Medical]
TSGene9685
GENETestsCLINT1
Target ValidationCLINT1
Huge Navigator CLINT1 [HugePedia]
snp3D : Map Gene to Disease9685
BioCentury BCIQCLINT1
ClinGenCLINT1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9685
Chemical/Pharm GKB GenePA145149115
Clinical trialCLINT1
Miscellaneous
canSAR (ICR)CLINT1 (select the gene name)
Probes
Litterature
PubMed1 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCLINT1
EVEXCLINT1
GoPubMedCLINT1
iHOPCLINT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Jul 30 13:40:51 CEST 2018
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