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TULP1 (tubby like protein 1)

Identity

Alias_namesRP14
Alias_symbol (synonym)TUBL1
LCA15
Other alias
HGNC (Hugo) TULP1
LocusID (NCBI) 7287
Atlas_Id 75377
Location 6p21.31  [Link to chromosome band 6p21]
Location_base_pair Starts at 35497874 and ends at 35512902 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)

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)TULP1   12423
Cards
Entrez_Gene (NCBI)TULP1  7287  tubby like protein 1
AliasesLCA15; RP14; TUBL1
GeneCards (Weizmann)TULP1
Ensembl hg19 (Hinxton)ENSG00000112041 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000112041 [Gene_View]  chr6:35497874-35512902 [Contig_View]  TULP1 [Vega]
ICGC DataPortalENSG00000112041
TCGA cBioPortalTULP1
AceView (NCBI)TULP1
Genatlas (Paris)TULP1
WikiGenes7287
SOURCE (Princeton)TULP1
Genetics Home Reference (NIH)TULP1
Genomic and cartography
GoldenPath hg38 (UCSC)TULP1  -     chr6:35497874-35512902 -  6p21.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TULP1  -     6p21.31   [Description]    (hg19-Feb_2009)
EnsemblTULP1 - 6p21.31 [CytoView hg19]  TULP1 - 6p21.31 [CytoView hg38]
Mapping of homologs : NCBITULP1 [Mapview hg19]  TULP1 [Mapview hg38]
OMIM600132   602280   613843   
Gene and transcription
Genbank (Entrez)AB593123 AB593124 BC032714 BC065261 CN355966
RefSeq transcript (Entrez)NM_001289395 NM_003322
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TULP1
Cluster EST : UnigeneHs.485208 [ NCBI ]
CGAP (NCI)Hs.485208
Alternative Splicing GalleryENSG00000112041
Gene ExpressionTULP1 [ NCBI-GEO ]   TULP1 [ EBI - ARRAY_EXPRESS ]   TULP1 [ SEEK ]   TULP1 [ MEM ]
Gene Expression Viewer (FireBrowse)TULP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7287
GTEX Portal (Tissue expression)TULP1
Human Protein AtlasENSG00000112041-TULP1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00294   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO00294  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO00294
Splice isoforms : SwissVarO00294
PhosPhoSitePlusO00294
Domaine pattern : Prosite (Expaxy)TUB_1 (PS01200)    TUB_2 (PS01201)   
Domains : Interpro (EBI)Tubby_C    Tubby_C-like    Tubby_C_CS    TULP1   
Domain families : Pfam (Sanger)Tub (PF01167)   
Domain families : Pfam (NCBI)pfam01167   
Conserved Domain (NCBI)TULP1
DMDM Disease mutations7287
Blocks (Seattle)TULP1
PDB (SRS)2FIM    3C5N   
PDB (PDBSum)2FIM    3C5N   
PDB (IMB)2FIM    3C5N   
PDB (RSDB)2FIM    3C5N   
Structural Biology KnowledgeBase2FIM    3C5N   
SCOP (Structural Classification of Proteins)2FIM    3C5N   
CATH (Classification of proteins structures)2FIM    3C5N   
SuperfamilyO00294
Human Protein Atlas [tissue]ENSG00000112041-TULP1 [tissue]
Peptide AtlasO00294
HPRD03788
IPIIPI00010894   IPI00827823   IPI00942473   
Protein Interaction databases
DIP (DOE-UCLA)O00294
IntAct (EBI)O00294
FunCoupENSG00000112041
BioGRIDTULP1
STRING (EMBL)TULP1
ZODIACTULP1
Ontologies - Pathways
QuickGOO00294
Ontology : AmiGO###############################################################################################################################################################################################################################################################  
Ontology : EGO-EBI###############################################################################################################################################################################################################################################################  
NDEx NetworkTULP1
Atlas of Cancer Signalling NetworkTULP1
Wikipedia pathwaysTULP1
Orthology - Evolution
OrthoDB7287
GeneTree (enSembl)ENSG00000112041
Phylogenetic Trees/Animal Genes : TreeFamTULP1
HOVERGENO00294
HOGENOMO00294
Homologs : HomoloGeneTULP1
Homology/Alignments : Family Browser (UCSC)TULP1
Gene fusions - Rearrangements
Fusion : QuiverTULP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTULP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TULP1
dbVarTULP1
ClinVarTULP1
1000_GenomesTULP1 
Exome Variant ServerTULP1
ExAC (Exome Aggregation Consortium)ENSG00000112041
GNOMAD BrowserENSG00000112041
Genetic variants : HAPMAP7287
Genomic Variants (DGV)TULP1 [DGVbeta]
DECIPHERTULP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTULP1 
Mutations
ICGC Data PortalTULP1 
TCGA Data PortalTULP1 
Broad Tumor PortalTULP1
OASIS PortalTULP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTULP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTULP1
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
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch TULP1
DgiDB (Drug Gene Interaction Database)TULP1
DoCM (Curated mutations)TULP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TULP1 (select a term)
intoGenTULP1
Cancer3DTULP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600132    602280    613843   
Orphanet659    3243   
DisGeNETTULP1
MedgenTULP1
Genetic Testing Registry TULP1
NextProtO00294 [Medical]
TSGene7287
GENETestsTULP1
Target ValidationTULP1
Huge Navigator TULP1 [HugePedia]
snp3D : Map Gene to Disease7287
BioCentury BCIQTULP1
ClinGenTULP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7287
Chemical/Pharm GKB GenePA37085
Clinical trialTULP1
Miscellaneous
canSAR (ICR)TULP1 (select the gene name)
Probes
Litterature
PubMed1 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTULP1
EVEXTULP1
GoPubMedTULP1
iHOPTULP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Feb 23 18:57:24 CET 2018

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