Gene Gene information from NCBI Gene database.
Entrez ID 51015
Gene name Isochorismatase domain containing 1
Gene symbol ISOC1
Synonyms (NCBI Gene)
CGI-111
Chromosome 5
Chromosome location 5q23.3
miRNA miRNA information provided by mirtarbase database.
410
miRTarBase ID miRNA Experiments Reference
MIRT039570 hsa-miR-652-3p CLASH 23622248
MIRT556912 hsa-miR-5582-3p PAR-CLIP 21572407
MIRT311516 hsa-miR-3609 PAR-CLIP 21572407
MIRT311518 hsa-miR-548ah-5p PAR-CLIP 21572407
MIRT556911 hsa-miR-106a-5p PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
3
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956
GO:0005737 Component Cytoplasm IBA
GO:0005777 Component Peroxisome ISS 14561759
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
620805 24254 ENSG00000066583
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96CN7
Protein name Isochorismatase domain-containing protein 1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00857 Isochorismatase 115 264 Isochorismatase family Family
Sequence
MAAAEPAVLALPNSGAGGAGAPSGTVPVLFCFSVFARPSSVPHGAGYELLIQKFLSLYGD
QIDMHRKFVVQLFAEEWGQYVDLPKGFAVSERCKVRLVPLQIQLTTLGNLTPSSTVFFCC
DMQERFRPAIKYFGDIISVGQRLLQGARILGIPVIVTEQYPKGLGSTVQEIDLTGVKLVL
PKTKFSMVLPEVEAALAEIPGVRSVVLFGVETHVCIQQTALELVGRGVEVHIVADATSSR
SMMDRMFALERLARTGIIVTTSEA
VLLQLVADKDHPKFKEIQNLIKASAPESGLLSKV
Sequence length 298
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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)
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
PERIPHERAL ARTERIAL DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Carcinoma Breast Carcinoma BEFREE 30944620, 31740942
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 31740942
★☆☆☆☆
Found in Text Mining only
Crohn Disease Crohn disease Pubtator 40312319 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 30944620, 31740942
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of pancreas Pancreatic cancer BEFREE 30944620
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 30944620
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 31740942
★☆☆☆☆
Found in Text Mining only
Pancreatic carcinoma Pancreatic carcinoma BEFREE 30944620
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Stomach neoplasms Pubtator 33275227 Associate
★☆☆☆☆
Found in Text Mining only