Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

TJAP1 (tight junction associated protein 1)

Identity

Alias_namesTJP4
tight junction protein 4 (peripheral)
tight junction associated protein 1 (peripheral)
Alias_symbol (synonym)PILT
Other alias
HGNC (Hugo) TJAP1
LocusID (NCBI) 93643
Atlas_Id 74714
Location 6p21.1  [Link to chromosome band 6p21]
Location_base_pair Starts at 43477523 and ends at 43506556 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)
TJAP1 (6p21.1) / CAPN1 (11q13.1)TJAP1 (6p21.1) / NACC2 (9q34.3)TRIM26 (6p22.1) / TJAP1 (6p21.1)
TSFM (12q14.1) / TJAP1 (6p21.1)

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) [ 2 ]
  t(6;6)(p21;p22) TRIM26/TJAP1
t(6;12)(p21;q14) TSFM/TJAP1


External links

Nomenclature
HGNC (Hugo)TJAP1   17949
Cards
Entrez_Gene (NCBI)TJAP1  93643  tight junction associated protein 1
AliasesPILT; TJP4
GeneCards (Weizmann)TJAP1
Ensembl hg19 (Hinxton)ENSG00000137221 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000137221 [Gene_View]  ENSG00000137221 [Sequence]  chr6:43477523-43506556 [Contig_View]  TJAP1 [Vega]
ICGC DataPortalENSG00000137221
TCGA cBioPortalTJAP1
AceView (NCBI)TJAP1
Genatlas (Paris)TJAP1
WikiGenes93643
SOURCE (Princeton)TJAP1
Genetics Home Reference (NIH)TJAP1
Genomic and cartography
GoldenPath hg38 (UCSC)TJAP1  -     chr6:43477523-43506556 +  6p21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TJAP1  -     6p21.1   [Description]    (hg19-Feb_2009)
EnsemblTJAP1 - 6p21.1 [CytoView hg19]  TJAP1 - 6p21.1 [CytoView hg38]
Mapping of homologs : NCBITJAP1 [Mapview hg19]  TJAP1 [Mapview hg38]
OMIM612658   
Gene and transcription
Genbank (Entrez)AJ420477 AK024269 AK074241 AK094907 AK123398
RefSeq transcript (Entrez)NM_001146016 NM_001146017 NM_001146018 NM_001146019 NM_001146020 NM_001350561 NM_001350562 NM_001350563 NM_001350564 NM_001350565 NM_001350566 NM_001350567 NM_001350568 NM_001350569 NM_001350570 NM_080604
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TJAP1
Cluster EST : UnigeneHs.520145 [ NCBI ]
CGAP (NCI)Hs.520145
Alternative Splicing GalleryENSG00000137221
Gene ExpressionTJAP1 [ NCBI-GEO ]   TJAP1 [ EBI - ARRAY_EXPRESS ]   TJAP1 [ SEEK ]   TJAP1 [ MEM ]
Gene Expression Viewer (FireBrowse)TJAP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)93643
GTEX Portal (Tissue expression)TJAP1
Human Protein AtlasENSG00000137221-TJAP1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5JTD0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5JTD0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5JTD0
Splice isoforms : SwissVarQ5JTD0
PhosPhoSitePlusQ5JTD0
Domains : Interpro (EBI)Tjap1   
Domain families : Pfam (Sanger)Pilt (PF15453)   
Domain families : Pfam (NCBI)pfam15453   
Conserved Domain (NCBI)TJAP1
DMDM Disease mutations93643
Blocks (Seattle)TJAP1
SuperfamilyQ5JTD0
Human Protein Atlas [tissue]ENSG00000137221-TJAP1 [tissue]
Peptide AtlasQ5JTD0
HPRD10269
IPIIPI00010544   IPI00643168   IPI00654613   IPI00552192   IPI00965003   
Protein Interaction databases
DIP (DOE-UCLA)Q5JTD0
IntAct (EBI)Q5JTD0
FunCoupENSG00000137221
BioGRIDTJAP1
STRING (EMBL)TJAP1
ZODIACTJAP1
Ontologies - Pathways
QuickGOQ5JTD0
Ontology : AmiGOprotein binding  endosome  trans-Golgi network  plasma membrane  bicellular tight junction  Golgi organization  
Ontology : EGO-EBIprotein binding  endosome  trans-Golgi network  plasma membrane  bicellular tight junction  Golgi organization  
Pathways : KEGGTight junction   
NDEx NetworkTJAP1
Atlas of Cancer Signalling NetworkTJAP1
Wikipedia pathwaysTJAP1
Orthology - Evolution
OrthoDB93643
GeneTree (enSembl)ENSG00000137221
Phylogenetic Trees/Animal Genes : TreeFamTJAP1
HOVERGENQ5JTD0
HOGENOMQ5JTD0
Homologs : HomoloGeneTJAP1
Homology/Alignments : Family Browser (UCSC)TJAP1
Gene fusions - Rearrangements
Fusion : QuiverTJAP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTJAP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TJAP1
dbVarTJAP1
ClinVarTJAP1
1000_GenomesTJAP1 
Exome Variant ServerTJAP1
ExAC (Exome Aggregation Consortium)ENSG00000137221
GNOMAD BrowserENSG00000137221
Varsome BrowserTJAP1
Genetic variants : HAPMAP93643
Genomic Variants (DGV)TJAP1 [DGVbeta]
DECIPHERTJAP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTJAP1 
Mutations
ICGC Data PortalTJAP1 
TCGA Data PortalTJAP1 
Broad Tumor PortalTJAP1
OASIS PortalTJAP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTJAP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTJAP1
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 TJAP1
DgiDB (Drug Gene Interaction Database)TJAP1
DoCM (Curated mutations)TJAP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TJAP1 (select a term)
intoGenTJAP1
Cancer3DTJAP1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612658   
Orphanet
DisGeNETTJAP1
MedgenTJAP1
Genetic Testing Registry TJAP1
NextProtQ5JTD0 [Medical]
TSGene93643
GENETestsTJAP1
Target ValidationTJAP1
Huge Navigator TJAP1 [HugePedia]
snp3D : Map Gene to Disease93643
BioCentury BCIQTJAP1
ClinGenTJAP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD93643
Chemical/Pharm GKB GenePA38268
Clinical trialTJAP1
Miscellaneous
canSAR (ICR)TJAP1 (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTJAP1
EVEXTJAP1
GoPubMedTJAP1
iHOPTJAP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Jul 30 14:34:55 CEST 2018

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.