ABHD13

abhydrolase domain containing 13, the group of Abhydrolase domain containing

Basic information

Region (hg38): 13:108218391-108234243

Previous symbols: [ "C13orf6" ]

Links

ENSG00000139826 ∙ NCBI:84945 ∙ ∙ HGNC:20293 ∙ Uniprot:Q7L211 ∙ 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 ABHD13 gene.

• Inborn genetic diseases (9 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ABHD13 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			9			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	0	0

Variants in ABHD13

This is a list of pathogenic ClinVar variants found in the ABHD13 region.

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

Position	Type	Phenotype	Significance	ClinVar
13-108229249-G-A		not specified	Uncertain significance (Aug 02, 2021)
13-108229313-C-T		not specified	Uncertain significance (Sep 25, 2023)
13-108229457-T-C		not specified	Uncertain significance (Dec 20, 2021)
13-108229511-G-A		not specified	Uncertain significance (Aug 10, 2021)
13-108229541-G-A		not specified	Uncertain significance (Aug 16, 2021)
13-108229552-C-T		not specified	Uncertain significance (Jun 30, 2022)
13-108229553-C-G		not specified	Uncertain significance (Dec 21, 2023)
13-108229561-C-G		not specified	Uncertain significance (Jul 05, 2022)
13-108229567-A-G		not specified	Uncertain significance (Aug 16, 2021)
13-108229714-T-C		not specified	Uncertain significance (Feb 16, 2023)
13-108229744-G-A		not specified	Uncertain significance (May 28, 2023)
13-108229919-C-T		not specified	Uncertain significance (Dec 27, 2023)
13-108230144-C-G		not specified	Uncertain significance (Aug 02, 2023)
13-108230165-A-G		not specified	Uncertain significance (Aug 09, 2021)
13-108230173-G-A		not specified	Likely benign (Dec 26, 2023)
13-108230178-G-C		not specified	Uncertain significance (Nov 17, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ABHD13	protein_coding	protein_coding	ENST00000375898	1	15877

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.895	0.105	125298	0	2	125300	0.00000798

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.47	127	183	0.694	0.00000931	2188
Missense in Polyphen		22	57.403	0.38325		698
Synonymous	-0.179	63	61.2	1.03	0.00000285	668
Loss of Function	2.90	1	11.7	0.0856	6.54e-7	152

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.00000888	0.00000885
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.113

Intolerance Scores

• loftool: 0.257
• rvis_EVS: -0.32
• rvis_percentile_EVS: 31.46

Haploinsufficiency Scores

• pHI: 0.108
• hipred: N
• hipred_score: 0.378
• ghis: 0.642

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.307

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Abhd13

Gene ontology

• Biological process: protein depalmitoylation
• Cellular component: membrane;integral component of membrane;dendrite cytoplasm
• Molecular function: palmitoyl-(protein) hydrolase activity