Gene Gene information from NCBI Gene database.
Entrez ID 90324
Gene name Coiled-coil domain containing 97
Gene symbol CCDC97
Synonyms (NCBI Gene)
-
Chromosome 19
Chromosome location 19q13.2
miRNA miRNA information provided by mirtarbase database.
309
miRTarBase ID miRNA Experiments Reference
MIRT051643 hsa-let-7e-5p CLASH 23622248
MIRT042047 hsa-miR-484 CLASH 23622248
MIRT870690 hsa-miR-1207-3p CLIP-seq
MIRT870691 hsa-miR-122 CLIP-seq
MIRT870692 hsa-miR-124 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
GO ID Ontology Definition Evidence Reference
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96F63
Protein name Coiled-coil domain-containing protein 97
Protein function May play a role pre-mRNA splicing through the association with the splicing factor SF3B complex which is involved in branch-site recognition.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09747 DUF2052 156 330 Coiled-coil domain containing protein (DUF2052) Coiled-coil
Sequence
MEAVATATAAKEPDKGCIEPGPGHWGELSRTPVPSKPQDKVEAAEATPVALDSDTSGAEN
AAVSAMLHAVAASRLPVCSQQQGEPDLTEHEKVAILAQLYHEKPLVFLERFRTGLREEHL
ACFGHVRGDHRADFYCAEVARQGTARPRTLRTRLRNRRYAALRELIQGGEYFSDEQMRFR
APLLYEQYIGQYLTQEELSARTPTHQPPKPGSPGRPACPLSNLLLQSYEERELQQRLLQQ
QEEEEACLEEEEEEEDSDEEDQRSGKDSEAWVPDSEERLILREEFTSRMHQRFLDGKDGD
FDYSTVDDNPDFDNLDIVARDEEERYFDEE
EPEDAPSPELDGD
Sequence length 343
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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
CARDIOVASCULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ATHEROSCLEROSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEART 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
Coronary Artery Disease Coronary artery disease Pubtator 27386823 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease Coronary artery disease GWASCAT_DG 29212778
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Emphysema Emphysema Pubtator 18670143, 23734748 Associate
★☆☆☆☆
Found in Text Mining only
Glomerulonephritis IGA Iga nephropathy Pubtator 19258388 Associate
★☆☆☆☆
Found in Text Mining only
Pulmonary Disease Chronic Obstructive Chronic obstructive pulmonary disease Pubtator 16780585, 18670143, 23267696 Associate
★☆☆☆☆
Found in Text Mining only