ABHD11

abhydrolase domain containing 11, the group of Abhydrolase domain containing

Basic information

Region (hg38): 7:73736093-73738852

Previous symbols: [ "WBSCR21" ]

Links

ENSG00000106077 ∙ NCBI:83451 ∙ ∙ HGNC:16407 ∙ Uniprot:Q8NFV4 ∙ 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 ABHD11 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ABHD11 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			24	3		27
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	24	3	0

Variants in ABHD11

This is a list of pathogenic ClinVar variants found in the ABHD11 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-73736578-A-G		not specified	Uncertain significance (Apr 04, 2023)
7-73736586-T-C		not specified	Likely benign (Mar 18, 2024)
7-73736602-C-T		not specified	Uncertain significance (May 28, 2024)
7-73736638-G-A		not specified	Uncertain significance (Oct 02, 2023)
7-73736665-C-T		not specified	Uncertain significance (Aug 30, 2021)
7-73736689-G-C		not specified	Uncertain significance (May 16, 2024)
7-73737069-C-G		not specified	Uncertain significance (Mar 25, 2024)
7-73737070-T-C		not specified	Uncertain significance (Jul 25, 2023)
7-73737082-G-A		not specified	Uncertain significance (Sep 01, 2021)
7-73737097-C-T		not specified	Uncertain significance (Feb 14, 2023)
7-73737098-G-A		not specified	Uncertain significance (Dec 19, 2023)
7-73737101-C-T		not specified	Uncertain significance (Jul 09, 2021)
7-73737264-C-A		not specified	Uncertain significance (Oct 29, 2021)
7-73737264-C-T		not specified	Likely benign (Apr 07, 2023)
7-73737370-T-C		not specified	Uncertain significance (Jan 26, 2022)
7-73737376-G-A		not specified	Uncertain significance (Nov 18, 2022)
7-73737565-C-G		not specified	Uncertain significance (Oct 03, 2022)
7-73737570-G-C		not specified	Uncertain significance (Aug 05, 2023)
7-73737596-C-T		not specified	Uncertain significance (Jan 18, 2023)
7-73737600-T-C			not provided (-)
7-73737612-C-T		not specified	Likely benign (Aug 01, 2022)
7-73737618-C-T		not specified	Uncertain significance (Dec 08, 2023)
7-73737641-G-A		not specified	Uncertain significance (Jan 16, 2024)
7-73737711-G-C		not specified	Uncertain significance (Apr 18, 2023)
7-73737728-G-C		not specified	Uncertain significance (Jun 29, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ABHD11	protein_coding	protein_coding	ENST00000222800	6	2774

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00296	0.948	125727	0	21	125748	0.0000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.567	176	198	0.887	0.0000120	2042
Missense in Polyphen		39	49.523	0.78752		538
Synonymous	-0.144	80	78.4	1.02	0.00000480	652
Loss of Function	1.72	6	12.6	0.477	6.34e-7	118

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000289	0.000273
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.0000468	0.0000462
European (Non-Finnish)	0.0000728	0.0000703
Middle Eastern	0.000163	0.000163
South Asian	0.0000330	0.0000327
Other	0.000173	0.000163

dbNSFP

Source: dbNSFP

• Pathway: miR-targeted genes in lymphocytes - TarBase (Consensus)

Recessive Scores

• pRec: 0.104

Intolerance Scores

• loftool: 0.841
• rvis_EVS: -0.4
• rvis_percentile_EVS: 26.53

Haploinsufficiency Scores

• pHI: 0.0592
• hipred: N
• hipred_score: 0.170
• ghis: 0.491

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: K
• gene_indispensability_pred: E
• gene_indispensability_score: 0.510

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Abhd11

Zebrafish Information Network

• Gene name: abhd11
• Affected structure: pigment cell
• Phenotype tag: abnormal
• Phenotype quality: quality

Gene ontology

• Biological process: biological_process
• Cellular component: cellular_component;mitochondrion
• Molecular function: molecular_function;hydrolase activity