ANKRD23

ankyrin repeat domain 23, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 2:96824526-96857934

Links

ENSG00000163126 ∙ NCBI:200539 ∙ OMIM:610736 ∙ HGNC:24470 ∙ Uniprot:Q86SG2 ∙ 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 ANKRD23 gene.

• not_specified (50 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKRD23 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000144994.8. 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						0
missense			47	3		50
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	47	3	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANKRD23	protein_coding	protein_coding	ENST00000318357	9	33409

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.54e-19	0.000180	125520	0	228	125748	0.000907

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.580	154	176	0.877	0.0000104	1928
Missense in Polyphen		44	59.049	0.74514		725
Synonymous	0.509	67	72.5	0.924	0.00000434	606
Loss of Function	-1.62	24	16.8	1.43	8.81e-7	190

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00160	0.00157
Ashkenazi Jewish	0.00230	0.00228
East Asian	0.00170	0.00169
Finnish	0.00	0.00
European (Non-Finnish)	0.000754	0.000747
Middle Eastern	0.00170	0.00169
South Asian	0.00128	0.00127
Other	0.00115	0.00114

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in the energy metabolism. Could be a molecular link between myofibrillar stretch-induced signaling pathways and muscle gene expression.

Recessive Scores

• pRec: 0.118

Intolerance Scores

• loftool: 0.909
• rvis_EVS: 0.13
• rvis_percentile_EVS: 63.2

Haploinsufficiency Scores

• pHI: 0.139
• hipred: N
• hipred_score: 0.170
• ghis: 0.551

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0698

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ankrd23
• Phenotype: muscle phenotype; normal phenotype

Gene ontology

• Biological process: response to mechanical stimulus
• Cellular component: nucleoplasm;cytosol;intercalated disc;actin cytoskeleton;myofibril
• Molecular function: titin binding