ASAH2B

N-acylsphingosine amidohydrolase 2B

Basic information

Region (hg38): 10:50739318-50816495

Previous symbols: [ "ASAH2C" ]

Links

ENSG00000204147 ∙ NCBI:653308 ∙ OMIM:610987 ∙ HGNC:23456 ∙ Uniprot:P0C7U1 ∙ 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 ASAH2B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ASAH2B 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			3			3
Total	0	0	3	0	0

Variants in ASAH2B

This is a list of pathogenic ClinVar variants found in the ASAH2B region.

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

Position	Type	Phenotype	Significance	ClinVar
10-50742940-C-A		not specified	Uncertain significance (May 25, 2022)
10-50742980-C-G		not specified	Uncertain significance (Mar 17, 2023)
10-50743009-C-T		not specified	Uncertain significance (Jul 14, 2021)
10-50745224-G-A		not specified	Uncertain significance (Mar 29, 2024)
10-50806818-G-T		not specified	Uncertain significance (Feb 15, 2023)
10-50806872-C-G		not specified	Uncertain significance (Mar 22, 2022)
10-50809929-A-G		not specified	Uncertain significance (May 15, 2024)
10-50810003-A-C		not specified	Uncertain significance (Jul 05, 2022)
10-50810014-C-A		not specified	Uncertain significance (May 11, 2022)
10-50810040-T-G		not specified	Uncertain significance (Aug 10, 2021)
10-50811112-A-G		not specified	Uncertain significance (May 16, 2024)
10-50813874-T-C		not specified	Uncertain significance (Nov 08, 2022)
10-50813904-T-C		not specified	Uncertain significance (Apr 25, 2022)
10-50813909-G-A		not specified	Uncertain significance (Jul 25, 2023)
10-50813909-G-C		not specified	Uncertain significance (Jan 16, 2024)
10-50814009-G-A		not specified	Uncertain significance (Sep 26, 2023)
10-50814012-C-T			Likely benign (Jun 23, 2018)
10-50814032-G-A		not specified	Uncertain significance (Dec 13, 2023)
10-50814037-C-T			Likely benign (Jun 23, 2018)
10-50816035-C-G		not specified	Uncertain significance (Oct 12, 2021)
10-50816265-G-A			Benign (Mar 05, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ASAH2B	protein_coding	protein_coding	ENST00000374006	5	77178

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.160	0.651	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.762	13	23.4	0.556	0.00000158	1046
Missense in Polyphen		1	2.433	0.41101		351
Synonymous	-0.0843	8	7.70	1.04	3.54e-7	317
Loss of Function	0.750	1	2.20	0.454	1.60e-7	96

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.129

Haploinsufficiency Scores

• pHI: 0.219
• hipred: N
• hipred_score: 0.148
• ghis: 0.401

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.112

Gene Damage Prediction

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

Gene ontology

• Biological process: long-chain fatty acid biosynthetic process;sphingosine biosynthetic process;ceramide catabolic process
• Cellular component: extracellular region
• Molecular function: N-acylsphingosine amidohydrolase activity