ABHD15

abhydrolase domain containing 15, the group of Abhydrolase domain containing

Basic information

Region (hg38): 17:29560547-29567037

Links

ENSG00000168792 ∙ NCBI:116236 ∙ OMIM:619894 ∙ HGNC:26971 ∙ Uniprot:Q6UXT9 ∙ 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 ABHD15 gene.

• not_specified (95 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ABHD15 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000198147.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			95	1		96
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	95	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ABHD15	protein_coding	protein_coding	ENST00000307201	2	6591

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.55e-8	0.192	124397	5	1333	125735	0.00533

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.104	273	268	1.02	0.0000147	2926
Missense in Polyphen		74	80.592	0.9182		824
Synonymous	-1.24	141	124	1.14	0.00000650	1054
Loss of Function	0.257	12	13.0	0.923	7.15e-7	131

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00496	0.00488
Ashkenazi Jewish	0.00485	0.00477
East Asian	0.000440	0.000435
Finnish	0.00354	0.00319
European (Non-Finnish)	0.00947	0.00905
Middle Eastern	0.000440	0.000435
South Asian	0.00106	0.00105
Other	0.00649	0.00637

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.721
• rvis_EVS: -0.25
• rvis_percentile_EVS: 36.07

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.309
• ghis: 0.514

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.295

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Abhd15

Gene ontology

• Biological process: cellular lipid metabolic process
• Cellular component: extracellular region;membrane
• Molecular function: hydrolase activity