ANKRD22

ankyrin repeat domain 22, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 10:88819895-88851844

Links

ENSG00000152766 ∙ NCBI:118932 ∙ ∙ HGNC:28321 ∙ Uniprot:Q5VYY1 ∙ 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 ANKRD22 gene.

• Inborn genetic diseases (9 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKRD22 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			6			6
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	9	0	0

Variants in ANKRD22

This is a list of pathogenic ClinVar variants found in the ANKRD22 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-88820330-G-A		not specified	Uncertain significance (Aug 22, 2023)
10-88820479-G-C		not specified	Uncertain significance (Mar 01, 2023)
10-88820482-G-A		not specified	Uncertain significance (Aug 30, 2021)
10-88822969-A-G		not specified	Uncertain significance (Jul 13, 2022)
10-88822973-G-C		not specified	Uncertain significance (Dec 20, 2023)
10-88823010-C-A		not specified	Uncertain significance (Oct 12, 2022)
10-88823286-C-G		not specified	Uncertain significance (Oct 12, 2022)
10-88823359-T-A		not specified	Uncertain significance (Oct 12, 2021)
10-88823369-T-C		not specified	Uncertain significance (Jan 30, 2024)
10-88826095-A-T		not specified	Uncertain significance (Aug 02, 2022)
10-88826114-A-G		not specified	Uncertain significance (Apr 12, 2022)
10-88828624-T-A		not specified	Uncertain significance (May 16, 2023)
10-88831953-G-C		not specified	Uncertain significance (Jan 31, 2024)
10-88832023-T-C		not specified	Uncertain significance (Feb 28, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANKRD22	protein_coding	protein_coding	ENST00000371930	6	29687

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.12e-9	0.0516	125690	2	56	125748	0.000231

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.207	111	105	1.06	0.00000556	1241
Missense in Polyphen		34	35.496	0.95784		456
Synonymous	-0.369	43	40.0	1.07	0.00000210	362
Loss of Function	-0.356	13	11.7	1.11	6.75e-7	133

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000847	0.000843
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000555	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000106	0.000105
Middle Eastern	0.0000555	0.0000544
South Asian	0.000859	0.000784
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.772
• rvis_EVS: 0.68
• rvis_percentile_EVS: 84.93

Haploinsufficiency Scores

• pHI: 0.269
• hipred: N
• hipred_score: 0.248
• ghis: 0.418

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.752

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ankrd22