ANKRD65

ankyrin repeat domain 65, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 1:1418420-1421769

Links

ENSG00000235098 ∙ NCBI:441869 ∙ ∙ HGNC:42950 ∙ Uniprot:E5RJM6 ∙ 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 ANKRD65 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKRD65 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				2		2
missense			42	6		48
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	42	8	0

Variants in ANKRD65

This is a list of pathogenic ClinVar variants found in the ANKRD65 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-1419113-T-A		not specified	Uncertain significance (Dec 28, 2023)
1-1419140-C-A		not specified	Uncertain significance (Aug 26, 2022)
1-1419140-C-G		not specified	Uncertain significance (Dec 11, 2023)
1-1419141-C-A		not specified	Uncertain significance (Jan 22, 2024)
1-1419153-G-A		not specified	Uncertain significance (Feb 07, 2023)
1-1419158-G-A			Likely benign (Nov 01, 2022)
1-1419209-C-T		not specified	Uncertain significance (Sep 14, 2022)
1-1419230-C-T		not specified	Uncertain significance (Jun 29, 2022)
1-1419231-G-C		not specified	Uncertain significance (Mar 15, 2024)
1-1419264-C-A		not specified	Uncertain significance (Jul 31, 2023)
1-1419337-C-G			Likely benign (Dec 01, 2022)
1-1419345-C-T		not specified	Likely benign (Apr 27, 2023)
1-1419368-C-T		not specified	Uncertain significance (May 25, 2022)
1-1419369-G-A		not specified	Uncertain significance (May 30, 2024)
1-1419407-C-T		not specified	Likely benign (Mar 17, 2023)
1-1419420-C-T		not specified	Likely benign (Sep 07, 2022)
1-1419437-A-G		not specified	Uncertain significance (Jun 11, 2024)
1-1419468-C-T		not specified	Uncertain significance (May 10, 2023)
1-1419485-G-T		not specified	Uncertain significance (Apr 26, 2023)
1-1419512-C-T		not specified	Uncertain significance (Mar 27, 2023)
1-1419525-C-T		not specified	Uncertain significance (Feb 16, 2023)
1-1420073-C-T			Likely benign (Nov 01, 2022)
1-1420084-G-T		not specified	Uncertain significance (Jan 02, 2024)
1-1420125-C-G		not specified	Uncertain significance (Feb 16, 2023)
1-1420126-C-G		not specified	Uncertain significance (Feb 16, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANKRD65	protein_coding	protein_coding	ENST00000537107	3	3350

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.06e-9	0.0178	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.592	117	136	0.857	0.00000848	2378
Missense in Polyphen		2	2.5084	0.79731		60
Synonymous	-0.0354	65	64.6	1.01	0.00000414	970
Loss of Function	-1.87	10	5.34	1.87	3.15e-7	76

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

Haploinsufficiency Scores

• ghis: 0.610

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: 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: Ankrd65