Gene Gene information from NCBI Gene database.
Entrez ID 100526760
Gene name ABHD14A-ACY1 readthrough
Gene symbol ABHD14A-ACY1
Synonyms (NCBI Gene)
-
Chromosome 3
Chromosome location 3p21.2
Summary This locus represents naturally occurring read-through transcription between the neighboring abhydrolase domain containing 14A (ABHD14A) and aminoacylase 1 (ACY1) genes on chromosome 3. The read-through transcript encodes a protein that shares sequence id
miRNA miRNA information provided by mirtarbase database.
42
miRTarBase ID miRNA Experiments Reference
MIRT706000 hsa-miR-183-5p HITS-CLIP 23313552
MIRT705999 hsa-miR-212-5p HITS-CLIP 23313552
MIRT705998 hsa-miR-4323 HITS-CLIP 23313552
MIRT705996 hsa-miR-4688 HITS-CLIP 23313552
MIRT705997 hsa-miR-6743-5p HITS-CLIP 23313552
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
AMINOACYLASE 1 DEFICIENCY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMINOACYLASE DEFICIENCY Disgenet
★★☆☆☆
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
Aminoacylase 1 deficiency Aminoacylase Deficiency CLINVAR_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations