ABHD12B

abhydrolase domain containing 12B, the group of Abhydrolase domain containing

Basic information

Region (hg38): 14:50872053-50904970

Previous symbols: [ "C14orf29" ]

Links

ENSG00000131969 ∙ NCBI:145447 ∙ ∙ HGNC:19837 ∙ Uniprot:Q7Z5M8 ∙ 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 ABHD12B gene.

• not_specified (55 variants)
• not_provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ABHD12B gene is commonly pathogenic or not. These statistics are base on transcript: NM_001206673.2. 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				2		2
missense			52	5		57
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)					1	1
Total	0	0	52	7	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ABHD12B	protein_coding	protein_coding	ENST00000337334	13	32811

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.80e-15	0.00597	123822	15	1911	125748	0.00769

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.165	184	178	1.03	0.00000888	2350
Missense in Polyphen		52	57.823	0.89929		736
Synonymous	0.0354	64	64.4	0.994	0.00000328	674
Loss of Function	-0.413	21	19.1	1.10	8.00e-7	268

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00433	0.00432
Ashkenazi Jewish	0.000498	0.000496
East Asian	0.00135	0.00131
Finnish	0.0118	0.0117
European (Non-Finnish)	0.0128	0.0127
Middle Eastern	0.00135	0.00131
South Asian	0.00169	0.00163
Other	0.00752	0.00752

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0832

Intolerance Scores

• loftool: 0.914
• rvis_EVS: 1.04
• rvis_percentile_EVS: 91.26

Haploinsufficiency Scores

• pHI: 0.0519
• hipred: N
• hipred_score: 0.112
• ghis: 0.400

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.421

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Abhd12b

Gene ontology

• Molecular function: hydrolase activity