ANKAR

ankyrin and armadillo repeat containing, the group of Armadillo repeat containing|Ankyrin repeat domain containing

Basic information

Region (hg38): 2:189674289-189761193

Links

ENSG00000151687 ∙ NCBI:150709 ∙ OMIM:609803 ∙ HGNC:26350 ∙ Uniprot:Q7Z5J8 ∙ 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 ANKAR gene.

• Inborn genetic diseases (50 variants)
• not provided (18 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKAR 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	4	6
missense			48	6	6	60
nonsense				1		1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	48	9	10

Variants in ANKAR

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

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

Position	Type	Phenotype	Significance	ClinVar
2-189676519-C-G		not specified	Uncertain significance (May 18, 2023)
2-189676531-A-G		not specified	Uncertain significance (Jun 02, 2023)
2-189676588-C-CT			Likely benign (Apr 17, 2018)
2-189676675-G-A		not specified	Uncertain significance (Aug 08, 2022)
2-189676738-C-T		not specified	Uncertain significance (Feb 10, 2023)
2-189676755-G-A		not specified	Uncertain significance (Jul 20, 2021)
2-189676766-T-G			Benign (May 14, 2018)
2-189676771-T-C		not specified	Uncertain significance (Sep 16, 2021)
2-189676771-T-G			Benign (Dec 31, 2019)
2-189676920-G-A		not specified	Uncertain significance (Jul 14, 2021)
2-189677050-C-T		not specified	Uncertain significance (Sep 20, 2022)
2-189689541-A-G			Benign (Dec 31, 2019)
2-189689672-C-G		not specified	Uncertain significance (Oct 12, 2021)
2-189689757-G-T		not specified	Uncertain significance (Jul 13, 2022)
2-189689840-G-T		not specified	Uncertain significance (Feb 05, 2024)
2-189689917-A-G		not specified	Uncertain significance (Feb 27, 2023)
2-189692395-G-A		not specified	Uncertain significance (Jan 24, 2023)
2-189693159-T-C		not specified	Uncertain significance (Dec 15, 2023)
2-189693168-A-G			Likely benign (Jul 01, 2022)
2-189693182-G-A			Benign (Dec 31, 2019)
2-189694986-A-C			Benign (Oct 24, 2018)
2-189695005-A-G			Likely benign (Jun 29, 2018)
2-189695040-G-C		not specified	Uncertain significance (May 05, 2023)
2-189696162-G-A		not specified	Uncertain significance (Jul 19, 2023)
2-189696216-C-T		not specified	Uncertain significance (Nov 09, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANKAR	protein_coding	protein_coding	ENST00000520309	22	86904

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.02e-31	0.00133	125263	1	484	125748	0.00193

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.855	647	711	0.910	0.0000349	9401
Missense in Polyphen		163	182.6	0.89267		2489
Synonymous	1.78	214	250	0.857	0.0000123	2683
Loss of Function	1.07	53	62.1	0.853	0.00000308	883

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00299	0.00296
Ashkenazi Jewish	0.00110	0.00109
East Asian	0.00350	0.00343
Finnish	0.000324	0.000323
European (Non-Finnish)	0.00143	0.00141
Middle Eastern	0.00350	0.00343
South Asian	0.00577	0.00554
Other	0.00170	0.00163

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0970

Intolerance Scores

• loftool: 0.989
• rvis_EVS: 2.94
• rvis_percentile_EVS: 99.16

Haploinsufficiency Scores

• pHI: 0.247
• hipred: N
• hipred_score: 0.197
• ghis: 0.405

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.402

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ankar

Gene ontology

• Cellular component: integral component of membrane