ABHD18

abhydrolase domain containing 18, the group of Abhydrolase domain containing

Basic information

Region (hg38): 4:127965315-128039953

Previous symbols: [ "C4orf29" ]

Links

ENSG00000164074 ∙ NCBI:80167 ∙ ∙ HGNC:26111 ∙ Uniprot:Q0P651 ∙ 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 ABHD18 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ABHD18 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			17			17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				1	1	2
Total	0	0	17	2	1

Variants in ABHD18

This is a list of pathogenic ClinVar variants found in the ABHD18 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-127965423-T-C			Benign (Jun 23, 2018)
4-127965474-T-C			Likely benign (Jun 29, 2018)
4-127965541-G-C			Benign (Jun 14, 2018)
4-127965897-C-T		not specified	Likely benign (Jan 23, 2018)
4-127965921-C-G		Neuronal ceroid lipofuscinosis 7	Benign (Jun 23, 2018)
4-127982986-C-T		not specified	Uncertain significance (Mar 01, 2023)
4-127984403-T-A		not specified	Uncertain significance (Nov 09, 2022)
4-127989722-T-C		not specified	Uncertain significance (Mar 18, 2024)
4-128009110-T-A		not specified	Uncertain significance (Jan 17, 2024)
4-128009123-G-A		not specified	Uncertain significance (Jun 22, 2023)
4-128009138-G-A		not specified	Uncertain significance (Jun 09, 2022)
4-128009156-C-A		not specified	Uncertain significance (Jan 24, 2024)
4-128017388-G-A		not specified	Uncertain significance (Jul 09, 2021)
4-128017401-T-C		not specified	Uncertain significance (Oct 28, 2023)
4-128017433-C-G		not specified	Uncertain significance (Nov 17, 2022)
4-128017452-G-A		not specified	Uncertain significance (Jun 22, 2021)
4-128020081-T-C		not specified	Uncertain significance (Aug 04, 2021)
4-128020081-T-G		not specified	Uncertain significance (Jan 04, 2022)
4-128020167-A-G		not specified	Uncertain significance (Aug 04, 2023)
4-128028502-T-A		not specified	Uncertain significance (Dec 09, 2023)
4-128028548-A-G		not specified	Uncertain significance (Jun 18, 2024)
4-128028605-C-T		not specified	Uncertain significance (Apr 13, 2022)
4-128028710-C-T		not specified	Uncertain significance (Jan 24, 2024)
4-128028787-C-T		not specified	Uncertain significance (Nov 15, 2023)
4-128030550-A-G			Likely benign (Mar 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ABHD18	protein_coding	protein_coding	ENST00000398965	10	74406

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.09e-12	0.0842	124525	0	110	124635	0.000441

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.986	163	202	0.805	0.0000100	2688
Missense in Polyphen		62	83.667	0.74104		1097
Synonymous	1.21	53	65.4	0.810	0.00000296	771
Loss of Function	0.525	20	22.7	0.881	0.00000144	276

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000422	0.000413
Ashkenazi Jewish	0.00541	0.00538
East Asian	0.000286	0.000278
Finnish	0.0000939	0.0000928
European (Non-Finnish)	0.000200	0.000195
Middle Eastern	0.000286	0.000278
South Asian	0.000467	0.000425
Other	0.000855	0.000826

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.55
• rvis_percentile_EVS: 81.38

Haploinsufficiency Scores

• pHI: 0.0435
• hipred: N
• hipred_score: 0.284
• ghis: 0.435

Mouse Genome Informatics

• Gene name: Abhd18

Gene ontology

• Cellular component: extracellular region