ABHD14A

abhydrolase domain containing 14A, the group of Abhydrolase domain containing

Basic information

Region (hg38): 3:51971425-51981196

Links

ENSG00000248487 ∙ NCBI:25864 ∙ OMIM:618771 ∙ HGNC:24538 ∙ Uniprot:Q9BUJ0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ABHD14A gene.

• Inborn genetic diseases (16 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ABHD14A gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			15	1		16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	1	0

Variants in ABHD14A

This is a list of pathogenic ClinVar variants found in the ABHD14A region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
3-51971484-G-A		not specified	Uncertain significance (Apr 18, 2023)
3-51971535-C-T		not specified	Uncertain significance (Nov 13, 2023)
3-51971540-G-A		not specified	Uncertain significance (Feb 08, 2023)
3-51971547-G-A		not specified	Uncertain significance (Sep 20, 2023)
3-51971592-C-T		not specified	Likely benign (May 05, 2023)
3-51971606-C-T		not specified	Uncertain significance (Oct 13, 2023)
3-51975142-G-T		not specified	Uncertain significance (Jul 25, 2023)
3-51975164-T-G		not specified	Uncertain significance (Jan 08, 2024)
3-51975197-T-G		not specified	Uncertain significance (Dec 16, 2022)
3-51975203-C-G		not specified	Uncertain significance (Apr 12, 2022)
3-51977880-C-G		not specified	Uncertain significance (Dec 20, 2023)
3-51977916-G-C		not specified	Uncertain significance (Mar 14, 2023)
3-51977925-C-G		not specified	Uncertain significance (Nov 17, 2023)
3-51977934-A-G		not specified	Uncertain significance (Jan 03, 2022)
3-51977962-G-A		not specified	Uncertain significance (Aug 22, 2023)
3-51978001-A-G		not specified	Uncertain significance (Aug 04, 2021)
3-51978071-C-G		not specified	Uncertain significance (Nov 08, 2022)
3-51978310-G-T		not specified	Uncertain significance (Oct 04, 2022)
3-51978314-C-G		not specified	Uncertain significance (Oct 17, 2023)
3-51978353-G-C		not specified	Uncertain significance (Jan 24, 2023)
3-51978356-G-A		not specified	Uncertain significance (Dec 28, 2022)
3-51980441-G-A		not specified	Uncertain significance (Jun 11, 2021)
3-51980462-C-T		not specified	Likely benign (Jan 10, 2023)
3-51980578-G-C		not specified	Uncertain significance (Oct 13, 2023)
3-51980879-C-T		not specified	Uncertain significance (Nov 17, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ABHD14A	protein_coding	protein_coding	ENST00000273596	5	9771

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000642	0.481	125722	0	26	125748	0.000103

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.326	139	150	0.925	0.00000890	1671
Missense in Polyphen		59	60.802	0.97036		643
Synonymous	1.90	49	69.0	0.710	0.00000388	621
Loss of Function	0.616	9	11.2	0.802	6.32e-7	112

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000293	0.000293
Ashkenazi Jewish	0.00	0.00
East Asian	0.000272	0.000272
Finnish	0.00	0.00
European (Non-Finnish)	0.0000620	0.0000615
Middle Eastern	0.000272	0.000272
South Asian	0.000131	0.000131
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Possible role in granule neuron development. {ECO:0000250}.

Recessive Scores

• pRec: 0.0838

Intolerance Scores

• loftool: 0.704
• rvis_EVS: 0.77
• rvis_percentile_EVS: 87.06

Haploinsufficiency Scores

• pHI: 0.0460
• hipred: N
• hipred_score: 0.170
• ghis: 0.434

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.118

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Abhd14a
• Phenotype: skeleton phenotype

Gene ontology

• Cellular component: cytoplasm;integral component of membrane
• Molecular function: hydrolase activity