ABHD8

abhydrolase domain containing 8, the group of Abhydrolase domain containing

Basic information

Region (hg38): 19:17292131-17310236

Links

ENSG00000127220 ∙ NCBI:79575 ∙ ∙ HGNC:23759 ∙ Uniprot:Q96I13 ∙ 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 ABHD8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ABHD8 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					1	1
missense			18			18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	0	1

Variants in ABHD8

This is a list of pathogenic ClinVar variants found in the ABHD8 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-17292719-T-G		not specified	Uncertain significance (Mar 01, 2023)
19-17294316-G-A		not specified	Uncertain significance (Apr 25, 2022)
19-17294407-C-T		not specified	Uncertain significance (Jan 04, 2022)
19-17294481-G-C		not specified	Uncertain significance (Jan 17, 2024)
19-17294491-G-T		not specified	Uncertain significance (Dec 13, 2022)
19-17294827-G-C		not specified	Uncertain significance (Jan 23, 2023)
19-17300857-C-A		not specified	Uncertain significance (Dec 28, 2023)
19-17300911-C-T		not specified	Uncertain significance (Apr 07, 2023)
19-17300973-G-A		not specified	Uncertain significance (Sep 28, 2021)
19-17301023-A-C		not specified	Uncertain significance (Dec 16, 2023)
19-17301202-C-T		not specified	Uncertain significance (Jun 02, 2023)
19-17301211-C-T		not specified	Uncertain significance (Mar 17, 2023)
19-17301216-C-T		not specified	Uncertain significance (Sep 15, 2021)
19-17301246-G-A		not specified	Uncertain significance (Nov 21, 2022)
19-17301250-C-A		not specified	Uncertain significance (Mar 06, 2023)
19-17301430-C-G		not specified	Uncertain significance (Nov 09, 2021)
19-17301490-C-G		not specified	Uncertain significance (Sep 12, 2023)
19-17301557-G-A			Benign (Oct 04, 2018)
19-17301585-C-G		not specified	Uncertain significance (Jan 19, 2024)
19-17305931-T-G		not specified	Uncertain significance (Jul 05, 2022)
19-17305953-G-A		not specified	Uncertain significance (Apr 12, 2024)
19-17306171-T-C		not specified	Uncertain significance (Jan 30, 2024)
19-17306177-C-A		not specified	Uncertain significance (Mar 18, 2024)
19-17306195-T-C		not specified	Uncertain significance (Jun 11, 2021)
19-17306201-A-G		not specified	Uncertain significance (Jun 11, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ABHD8	protein_coding	protein_coding	ENST00000247706	4	18106

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.970	0.0297	125735	0	8	125743	0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.80	219	308	0.711	0.0000211	2802
Missense in Polyphen		27	64.393	0.4193		601
Synonymous	0.983	131	146	0.897	0.0000112	957
Loss of Function	3.39	1	15.3	0.0654	0.00000105	141

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000638	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000447	0.0000440
Middle Eastern	0.00	0.00
South Asian	0.0000654	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.111

Intolerance Scores

• loftool: 0.528
• rvis_EVS: -0.2
• rvis_percentile_EVS: 38.82

Haploinsufficiency Scores

• pHI: 0.259
• hipred: Y
• hipred_score: 0.728
• ghis: 0.592

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.331

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Abhd8
• Phenotype: limbs/digits/tail phenotype; skeleton phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); growth/size/body region phenotype

Gene ontology

• Biological process: lipid homeostasis
• Cellular component: extracellular exosome
• Molecular function: carboxylic ester hydrolase activity