ABHD14B

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

Basic information

Region (hg38): 3:51968509-51983409

Links

ENSG00000114779 ∙ NCBI:84836 ∙ ∙ HGNC:28235 ∙ Uniprot:Q96IU4 ∙ 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 ABHD14B gene.

• Inborn genetic diseases (27 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ABHD14B 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			10	1		11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			15	1		16
Total	0	0	25	2	0

Variants in ABHD14B

This is a list of pathogenic ClinVar variants found in the ABHD14B region.

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

Position	Type	Phenotype	Significance	ClinVar
3-51969501-C-T		not specified	Likely benign (Feb 06, 2024)
3-51969524-G-A		not specified	Uncertain significance (Feb 07, 2023)
3-51970010-G-A		not specified	Uncertain significance (Jan 07, 2022)
3-51970079-A-G		not specified	Uncertain significance (Feb 15, 2023)
3-51970082-G-T		not specified	Uncertain significance (Sep 26, 2022)
3-51970146-T-C		not specified	Uncertain significance (May 23, 2023)
3-51970155-G-A		not specified	Uncertain significance (Aug 28, 2023)
3-51970155-G-C		not specified	Uncertain significance (Jul 19, 2023)
3-51970172-G-C		not specified	Uncertain significance (Nov 03, 2022)
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)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ABHD14B	protein_coding	protein_coding	ENST00000483233	3	14900

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000144	0.434	123592	28	2125	125745	0.00860

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.852	97	124	0.784	0.00000673	1338
Missense in Polyphen		36	42.172	0.85365		493
Synonymous	2.07	36	55.7	0.646	0.00000319	472
Loss of Function	0.209	6	6.58	0.912	3.66e-7	66

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0489	0.0483
Ashkenazi Jewish	0.00116	0.00109
East Asian	0.000282	0.000272
Finnish	0.00921	0.00910
European (Non-Finnish)	0.00915	0.00887
Middle Eastern	0.000282	0.000272
South Asian	0.000609	0.000588
Other	0.0113	0.0110

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Has hydrolase activity towards p-nitrophenyl butyrate (in vitro). May activate transcription. {ECO:0000269|PubMed:14672934}.
• Pathway: Phase II - Conjugation of compounds;Biological oxidations;Metabolism;Cytosolic sulfonation of small molecules (Consensus)

Recessive Scores

• pRec: 0.0894

Intolerance Scores

• loftool: 0.495
• rvis_EVS: 0.22
• rvis_percentile_EVS: 67.92

Haploinsufficiency Scores

• pHI: 0.245
• hipred: N
• hipred_score: 0.144
• ghis: 0.473

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.115

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Abhd14b

Gene ontology

• Biological process: positive regulation of transcription by RNA polymerase II;3'-phosphoadenosine 5'-phosphosulfate metabolic process
• Cellular component: nucleus;nucleolus;cytoplasm;cytosol;extracellular exosome
• Molecular function: protein binding;hydrolase activity