ASIC5

acid sensing ion channel subunit family member 5, the group of Acid sensing ion channel subunits

Basic information

Region (hg38): 4:155829728-155866277

Previous symbols: [ "ACCN5" ]

Links

ENSG00000256394 ∙ NCBI:51802 ∙ OMIM:616693 ∙ HGNC:17537 ∙ Uniprot:Q9NY37 ∙ 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 ASIC5 gene.

• Inborn genetic diseases (16 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ASIC5 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			15	2		17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	2	0

Variants in ASIC5

This is a list of pathogenic ClinVar variants found in the ASIC5 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-155829965-T-C			Likely benign (Mar 01, 2023)
4-155829968-G-C		not specified	Uncertain significance (Dec 22, 2023)
4-155829983-A-G		not specified	Uncertain significance (Oct 25, 2023)
4-155829998-G-A		not specified	Uncertain significance (Jun 24, 2022)
4-155831865-A-T		not specified	Uncertain significance (Oct 05, 2021)
4-155831873-G-C		not specified	Uncertain significance (Sep 12, 2023)
4-155836702-G-A		not specified	Uncertain significance (Jan 19, 2024)
4-155836723-A-G		not specified	Uncertain significance (Feb 10, 2022)
4-155836816-T-A		not specified	Uncertain significance (Jan 19, 2022)
4-155838815-A-G		not specified	Uncertain significance (Dec 13, 2022)
4-155842282-T-A		not specified	Uncertain significance (Sep 16, 2021)
4-155843692-G-A		not specified	Uncertain significance (Oct 03, 2022)
4-155843745-A-G		not specified	Uncertain significance (Oct 26, 2022)
4-155843752-G-T		not specified	Uncertain significance (Aug 16, 2021)
4-155843785-T-A		not specified	Uncertain significance (Dec 27, 2023)
4-155852222-C-A		Pregnancy loss, recurrent, susceptibility to, 3	Pathogenic (Jul 25, 2019)
4-155854091-G-T		not specified	Uncertain significance (Jul 05, 2023)
4-155854098-A-C		not specified	Uncertain significance (Jun 05, 2023)
4-155854174-T-C		not specified	Uncertain significance (Dec 19, 2023)
4-155854307-T-G		not specified	Uncertain significance (Oct 10, 2023)
4-155863483-C-T		not specified	Likely benign (Mar 29, 2022)
4-155863508-A-G		ASIC5-related disorder	Likely benign (May 10, 2023)
4-155863515-T-C		not specified	Uncertain significance (Jun 24, 2022)
4-155863547-C-T		not specified	Uncertain significance (Nov 15, 2021)
4-155863558-C-G		not specified	Uncertain significance (Nov 16, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ASIC5	protein_coding	protein_coding	ENST00000537611	10	36545

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.03e-14	0.0302	125594	0	152	125746	0.000605

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.326	273	258	1.06	0.0000124	3346
Missense in Polyphen		60	60.818	0.98656		783
Synonymous	-0.993	101	89.1	1.13	0.00000441	908
Loss of Function	0.220	21	22.1	0.949	0.00000102	297

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000319	0.000304
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.000661	0.000653
Finnish	0.000635	0.000601
European (Non-Finnish)	0.000683	0.000677
Middle Eastern	0.000661	0.000653
South Asian	0.00129	0.00127
Other	0.000676	0.000652

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Cation channel that gives rise to very low constitutive currents in the absence of activation. The activated channel exhibits selectivity for sodium, and is inhibited by amiloride. {ECO:0000269|PubMed:10767424}.
• Pathway: Inflammatory mediator regulation of TRP channels - Homo sapiens (human);Stimuli-sensing channels;Ion channel transport;Transport of small molecules (Consensus)

Recessive Scores

• pRec: 0.0915

Intolerance Scores

• rvis_EVS: -0.51
• rvis_percentile_EVS: 21.73

Haploinsufficiency Scores

• pHI: 0.108
• hipred: N
• hipred_score: 0.219
• ghis: 0.410

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Asic5
• Phenotype: normal phenotype

Gene ontology

• Biological process: ion transmembrane transport;sodium ion transmembrane transport;proton transmembrane transport
• Cellular component: plasma membrane;integral component of membrane
• Molecular function: sodium channel activity;proton channel activity;acid-sensing ion channel activity