Atlas of Genetics and Cytogenetics in Oncology and Haematology


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TBC1D7-LOC100130357 (TBC1D7-LOC100130357 readthrough)

Identity

Alias (NCBI)-
HGNC (Hugo) -
LocusID (NCBI) 107080638
Atlas_Id 78224
Location 6p24.1  [Link to chromosome band 6p24]
Location_base_pair Starts at 13266542 and ends at 13328583 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)-   -
Cards
Entrez_Gene (NCBI)TBC1D7-LOC100130357    TBC1D7-LOC100130357 readthrough
Aliases
GeneCards (Weizmann)TBC1D7-LOC100130357
Ensembl hg19 (Hinxton)ENSG00000145979 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000145979 [Gene_View]  ENSG00000145979 [Sequence]  chr6:13266542-13328583 [Contig_View]  TBC1D7-LOC100130357 [Vega]
ICGC DataPortalENSG00000145979
TCGA cBioPortalTBC1D7-LOC100130357
AceView (NCBI)TBC1D7-LOC100130357
Genatlas (Paris)TBC1D7-LOC100130357
SOURCE (Princeton)TBC1D7-LOC100130357
Genetics Home Reference (NIH)TBC1D7-LOC100130357
Genomic and cartography
GoldenPath hg38 (UCSC)TBC1D7-LOC100130357  -     chr6:13266542-13328583 -  6p24.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TBC1D7-LOC100130357  -     6p24.1   [Description]    (hg19-Feb_2009)
GoldenPathTBC1D7-LOC100130357 - 6p24.1 [CytoView hg19]  TBC1D7-LOC100130357 - 6p24.1 [CytoView hg38]
ImmunoBaseENSG00000145979
Genome Data Viewer NCBITBC1D7-LOC100130357 [Mapview hg19]  
Gene and transcription
Genbank (Entrez)AK057228 AK296391 BU620048
RefSeq transcript (Entrez)NM_001318809
Consensus coding sequences : CCDS (NCBI)TBC1D7-LOC100130357
Gene ExpressionTBC1D7-LOC100130357 [ NCBI-GEO ]   TBC1D7-LOC100130357 [ EBI - ARRAY_EXPRESS ]   TBC1D7-LOC100130357 [ SEEK ]   TBC1D7-LOC100130357 [ MEM ]
Gene Expression Viewer (FireBrowse)TBC1D7-LOC100130357 [ Firebrowse - Broad ]
GenevisibleExpression of TBC1D7-LOC100130357 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)107080638
GTEX Portal (Tissue expression)TBC1D7-LOC100130357
Human Protein AtlasENSG00000145979-TBC1D7-LOC100130357 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9P0N9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9P0N9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9P0N9
PhosPhoSitePlusQ9P0N9
Domaine pattern : Prosite (Expaxy)TBC_RABGAP (PS50086)   
Domains : Interpro (EBI)Rab-GTPase-TBC_dom    Rab-GTPase_TBC_sf    TBC1D7    TBC1D7_dom2   
Domain families : Pfam (Sanger)RabGAP-TBC (PF00566)   
Domain families : Pfam (NCBI)pfam00566   
Conserved Domain (NCBI)TBC1D7-LOC100130357
PDB (RSDB)3QWL    4Z6Y    5EJC    5ULO   
PDB Europe3QWL    4Z6Y    5EJC    5ULO   
PDB (PDBSum)3QWL    4Z6Y    5EJC    5ULO   
PDB (IMB)3QWL    4Z6Y    5EJC    5ULO   
Structural Biology KnowledgeBase3QWL    4Z6Y    5EJC    5ULO   
SCOP (Structural Classification of Proteins)3QWL    4Z6Y    5EJC    5ULO   
CATH (Classification of proteins structures)3QWL    4Z6Y    5EJC    5ULO   
SuperfamilyQ9P0N9
AlphaFold pdb e-kbQ9P0N9   
Human Protein Atlas [tissue]ENSG00000145979-TBC1D7-LOC100130357 [tissue]
Protein Interaction databases
DIP (DOE-UCLA)Q9P0N9
IntAct (EBI)Q9P0N9
BioGRIDTBC1D7-LOC100130357
STRING (EMBL)TBC1D7-LOC100130357
ZODIACTBC1D7-LOC100130357
Ontologies - Pathways
QuickGOQ9P0N9
Ontology : AmiGOGTPase activator activity  GTPase activator activity  protein binding  cytosol  small GTPase binding  positive regulation of protein ubiquitination  cytoplasmic vesicle  negative regulation of TOR signaling  negative regulation of TOR signaling  ciliary basal body  positive regulation of GTPase activity  response to growth factor  activation of GTPase activity  activation of GTPase activity  negative regulation of cilium assembly  
Ontology : EGO-EBIGTPase activator activity  GTPase activator activity  protein binding  cytosol  small GTPase binding  positive regulation of protein ubiquitination  cytoplasmic vesicle  negative regulation of TOR signaling  negative regulation of TOR signaling  ciliary basal body  positive regulation of GTPase activity  response to growth factor  activation of GTPase activity  activation of GTPase activity  negative regulation of cilium assembly  
NDEx NetworkTBC1D7-LOC100130357
Atlas of Cancer Signalling NetworkTBC1D7-LOC100130357
Wikipedia pathwaysTBC1D7-LOC100130357
Orthology - Evolution
OrthoDB107080638
GeneTree (enSembl)ENSG00000145979
Phylogenetic Trees/Animal Genes : TreeFam-
Homologs : HomoloGeneTBC1D7-LOC100130357
Homology/Alignments : Family Browser (UCSC)TBC1D7-LOC100130357
Gene fusions - Rearrangements
Fusion : QuiverTBC1D7-LOC100130357
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBC1D7-LOC100130357 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBC1D7-LOC100130357
dbVarTBC1D7-LOC100130357
ClinVarTBC1D7-LOC100130357
Monarch-
1000_GenomesTBC1D7-LOC100130357 
Exome Variant ServerTBC1D7-LOC100130357
GNOMAD BrowserENSG00000145979
Varsome BrowserTBC1D7-LOC100130357
ACMGTBC1D7-LOC100130357 variants
VarityQ9P0N9
Genomic Variants (DGV)TBC1D7-LOC100130357 [DGVbeta]
DECIPHERTBC1D7-LOC100130357 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTBC1D7-LOC100130357 
Mutations
ICGC Data Portal- 
TCGA Data Portal- 
Broad Tumor Portal-
OASIS Portal- [ Somatic mutations - Copy number]
Mutations and Diseases : HGMD-
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTBC1D7-LOC100130357
DgiDB (Drug Gene Interaction Database)TBC1D7-LOC100130357
DoCM (Curated mutations)TBC1D7-LOC100130357
CIViC (Clinical Interpretations of Variants in Cancer)TBC1D7-LOC100130357
Cancer3DTBC1D7-LOC100130357
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETTBC1D7-LOC100130357
MedgenTBC1D7-LOC100130357
Genetic Testing Registry TBC1D7-LOC100130357
NextProtQ9P0N9 [Medical]
GENETestsTBC1D7-LOC100130357
Target ValidationTBC1D7-LOC100130357
Huge Navigator TBC1D7-LOC100130357 [HugePedia]
ClinGenTBC1D7-LOC100130357
Clinical trials, drugs, therapy
MyCancerGenomeTBC1D7-LOC100130357
Protein Interactions : CTDTBC1D7-LOC100130357
PharosQ9P0N9
Clinical trialTBC1D7-LOC100130357
Miscellaneous
canSAR (ICR)TBC1D7-LOC100130357
HarmonizomeTBC1D7-LOC100130357
DataMed IndexTBC1D7-LOC100130357
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTBC1D7-LOC100130357
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Oct 4 16:24:57 CEST 2021

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