ANKEF1

ankyrin repeat and EF-hand domain containing 1, the group of EF-hand domain containing|Ankyrin repeat domain containing

Basic information

Region (hg38): 20:9986125-10058303

Previous symbols: [ "ANKRD5" ]

Links

ENSG00000132623 ∙ NCBI:63926 ∙ ∙ HGNC:15803 ∙ Uniprot:Q9NU02 ∙ 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 ANKEF1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKEF1 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			57			57
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	57	0	0

Variants in ANKEF1

This is a list of pathogenic ClinVar variants found in the ANKEF1 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-10038344-A-C		not specified	Uncertain significance (Oct 20, 2023)
20-10038350-C-A		not specified	Uncertain significance (May 24, 2024)
20-10038413-G-A		not specified	Uncertain significance (Aug 17, 2021)
20-10038422-A-G		not specified	Uncertain significance (May 15, 2023)
20-10038477-A-G		not specified	Uncertain significance (Mar 16, 2022)
20-10038527-G-A		not specified	Uncertain significance (Sep 09, 2021)
20-10038537-G-A		not specified	Uncertain significance (Nov 17, 2022)
20-10038569-G-C		not specified	Uncertain significance (May 26, 2023)
20-10038578-C-T		not specified	Uncertain significance (Apr 19, 2023)
20-10038608-G-A		not specified	Uncertain significance (Nov 30, 2021)
20-10043151-A-G		not specified	Uncertain significance (Feb 22, 2023)
20-10043169-G-T		not specified	Uncertain significance (Oct 12, 2021)
20-10043179-C-T		not specified	Uncertain significance (Aug 22, 2022)
20-10043229-A-T		not specified	Uncertain significance (Mar 07, 2024)
20-10043280-A-T		not specified	Uncertain significance (Aug 20, 2023)
20-10043313-A-G		not specified	Uncertain significance (Dec 27, 2023)
20-10044403-C-T		not specified	Uncertain significance (Dec 12, 2023)
20-10044404-G-A		not specified	Uncertain significance (Mar 01, 2023)
20-10044410-C-A		not specified	Uncertain significance (Jan 06, 2023)
20-10044422-C-T		not specified	Uncertain significance (Jun 17, 2024)
20-10044490-G-C		not specified	Uncertain significance (Sep 30, 2021)
20-10044514-C-T		not specified	Uncertain significance (Jan 17, 2023)
20-10045575-T-C		not specified	Uncertain significance (Nov 07, 2022)
20-10045578-T-C		not specified	Uncertain significance (Mar 30, 2022)
20-10045596-A-T		not specified	Uncertain significance (Feb 16, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANKEF1	protein_coding	protein_coding	ENST00000378380	9	70637

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.54e-10	0.899	125617	0	130	125747	0.000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.506	408	438	0.932	0.0000236	5087
Missense in Polyphen		155	157.09	0.98667		1825
Synonymous	0.676	153	164	0.933	0.00000961	1509
Loss of Function	1.83	19	29.8	0.638	0.00000165	404

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000799	0.000799
Ashkenazi Jewish	0.00	0.00
East Asian	0.00300	0.00299
Finnish	0.0000464	0.0000462
European (Non-Finnish)	0.000328	0.000325
Middle Eastern	0.00300	0.00299
South Asian	0.000359	0.000359
Other	0.000653	0.000652

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0932

Intolerance Scores

• rvis_EVS: -0.37
• rvis_percentile_EVS: 28.26

Haploinsufficiency Scores

• pHI: 0.174
• hipred: N
• hipred_score: 0.229
• ghis: 0.462

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ankef1

Gene ontology

• Molecular function: calcium ion binding