ANKRD63

ankyrin repeat domain 63, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 15:40278371-40283064

Links

ENSG00000230778 ∙ NCBI:100131244 ∙ ∙ HGNC:40027 ∙ Uniprot:C9JTQ0 ∙ 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 ANKRD63 gene.

• Inborn genetic diseases (13 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKRD63 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			13			13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	0	0

Variants in ANKRD63

This is a list of pathogenic ClinVar variants found in the ANKRD63 region.

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

Position	Type	Phenotype	Significance	ClinVar
15-40281518-G-T		not specified	Uncertain significance (Jan 13, 2023)
15-40281520-G-A		not specified	Uncertain significance (Mar 11, 2024)
15-40281605-G-C		not specified	Uncertain significance (Mar 29, 2022)
15-40281637-T-C		not specified	Uncertain significance (Feb 28, 2023)
15-40281640-G-A		not specified	Uncertain significance (Nov 08, 2022)
15-40281640-G-C		not specified	Uncertain significance (Jan 06, 2023)
15-40281727-G-A		not specified	Uncertain significance (Jul 20, 2022)
15-40281824-G-A		not specified	Uncertain significance (Jun 13, 2023)
15-40281953-G-A		not specified	Uncertain significance (Jul 09, 2021)
15-40281976-G-C		not specified	Uncertain significance (Aug 29, 2022)
15-40282007-G-T		not specified	Uncertain significance (Jul 20, 2022)
15-40282100-C-T		not specified	Uncertain significance (Apr 13, 2023)
15-40282132-C-A		not specified	Uncertain significance (Oct 14, 2021)
15-40282291-G-A		not specified	Uncertain significance (Jun 21, 2022)
15-40282388-C-T		not specified	Uncertain significance (Mar 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANKRD63	protein_coding	protein_coding	ENST00000434396	1	1143

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.376	0.582	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.56	79	129	0.613	0.00000699	2314
Missense in Polyphen		8	13.698	0.58403		238
Synonymous	-0.629	68	61.7	1.10	0.00000341	918
Loss of Function	1.60	1	4.79	0.209	2.50e-7	64

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

Essentials

• essential_gene_CRISPR2: E
• 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: Ankrd63