TBC1D7-LOC100130357 (-)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Pathways Associated diseases
Entrez ID 107080638
Gene name -
Gene symbol TBC1D7-LOC100130357
Synonyms (NCBI Gene)
-
Chromosome 6
Chromosome location 6p24.1
Summary This locus represents naturally occurring readthrough transcription between the neighboring TBC1D7 (TBC1 domain family member 7) gene and downstream uncharacterized LOC100130357 on chromosome 6. Readthrough transcripts may encode the same protein as TBC1
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
Gene Gene ontology Other IDs Pathways Associated diseases
Show/Hide all (31)
GO ID Ontology Definition Evidence Reference
GO:0005096 Function GTPase activator activity IBA
GO:0005096 Function GTPase activator activity IDA 17646400
GO:0005096 Function GTPase activator activity IEA
GO:0005515 Function Protein binding IPI 17658474, 22354992, 25416956, 27107012, 28514442, 31515488, 32296183, 33436626, 33961781
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Pathways Associated diseases
MIM HGNC e!Ensembl
ENSG00000145979 N/A N/A
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Pathways Associated diseases
  KEGG  Reactome
  mTOR signaling pathway   TBC/RABGAPs
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene Gene ontology Other IDs Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (1)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70 — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (1)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Malignant neoplasm of lung Lung Cancer BEFREE 20095038
★★★★★
★☆☆☆☆
Found in Text Mining only