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Gene Gene information from NCBI Gene database.
Entrez ID 10984
Gene name KCNQ1 opposite strand/antisense transcript 1
Gene symbol KCNQ1OT1
Synonyms (NCBI Gene)
KCNQ1-AS2KCNQ10T1Kncq1KvDMR1KvLQT1-ASLIT1NCRNA00012
Chromosome 11
Chromosome location 11p15.5
Summary Human chromosomal region 11p15.5 contains two clusters of epigenetically-regulated genes that are expressed from only one chromosome in a parent-of-origin manner. Each cluster, or imprinted domain, is regulated by a functionally independent imprinting con
miRNA miRNA information provided by mirtarbase database.
7 Show/Hide all (7)
miRTarBase ID miRNA Experiments Reference
MIRT733190 hsa-miR-374a-5p RNA-seq 33552263
MIRT733327 hsa-let-7a-5p Luciferase reporter assayWestern blotting 34228237
MIRT733328 hsa-miR-497-5p Luciferase reporter assayWestern blotting 34228237
MIRT735229 hsa-miR-424-5p Flow cytometry 32544168
MIRT735230 hsa-miR-16-5p Flow cytometry 32544168
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604115 6295 ENSG00000269821
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 Reference Evidence Score
KCNQ1OT1-related disorder Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (157)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 30932685
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 28600629, 31065463
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of rectum Adenocarcinoma Of Rectum BEFREE 30932685
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenal Cortical Adenoma Adrenocortical adenoma BEFREE 16770802
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenocortical carcinoma Adrenocortical carcinoma HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Angelman Syndrome Angelman syndrome Pubtator 35365979 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 20507345
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 36458365 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 30241939
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial fibrillation Pubtator 34698362 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only