ANKRD24

ankyrin repeat domain 24, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 19:4182689-4224814

Links

ENSG00000089847 ∙ NCBI:170961 ∙ OMIM:620234 ∙ HGNC:29424 ∙ Uniprot:Q8TF21 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• sensorineural hearing loss disorder (Limited), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ANKRD24 gene.

• not_specified (195 variants)
• not_provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKRD24 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001393985.1. 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				3		3
missense			185	10		195
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	185	13	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANKRD24	protein_coding	protein_coding	ENST00000600132	21	41461

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.26e-16	0.858	124634	0	94	124728	0.000377

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.541	538	575	0.936	0.0000352	7068
Missense in Polyphen		125	127.64	0.97934		1477
Synonymous	0.372	242	249	0.970	0.0000172	2361
Loss of Function	2.11	32	47.7	0.671	0.00000245	584

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00162	0.00159
Ashkenazi Jewish	0.00	0.00
East Asian	0.000297	0.000223
Finnish	0.0000995	0.0000928
European (Non-Finnish)	0.000400	0.000301
Middle Eastern	0.000297	0.000223
South Asian	0.000641	0.000523
Other	0.00118	0.000660

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0823

Intolerance Scores

• loftool: 0.852
• rvis_EVS: 1.88
• rvis_percentile_EVS: 97.23

Haploinsufficiency Scores

• pHI: 0.0846
• hipred: N
• hipred_score: 0.281
• ghis: 0.449

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.439

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ankrd24