ANKK1

ankyrin repeat and kinase domain containing 1, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 11:113387778-113400416

Links

ENSG00000170209 ∙ NCBI:255239 ∙ OMIM:608774 ∙ HGNC:21027 ∙ Uniprot:Q8NFD2 ∙ 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 ANKK1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKK1 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				5	5	10
missense			53	13	8	74
nonsense					1	1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)				1		1
splice region					1	1
non coding				2		2
Total	0	0	53	21	14

Variants in ANKK1

This is a list of pathogenic ClinVar variants found in the ANKK1 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-113387894-G-T		ANKK1-related disorder	Likely benign (Apr 22, 2022)
11-113387907-T-G		not specified	Uncertain significance (Dec 22, 2023)
11-113387977-CGGCTTCAGCCA-C			Uncertain significance (Dec 27, 2021)
11-113387997-A-T		not specified	Uncertain significance (Jun 09, 2022)
11-113388000-C-A		not specified	Uncertain significance (Mar 15, 2024)
11-113388011-C-G		not specified	Uncertain significance (Jun 12, 2023)
11-113388057-C-G		not specified	Uncertain significance (Nov 21, 2022)
11-113388065-G-A		ANKK1-related disorder	Likely benign (Nov 11, 2022)
11-113393504-A-G		not specified	Uncertain significance (Sep 06, 2022)
11-113393522-A-G		not specified	Uncertain significance (Jun 03, 2022)
11-113393605-G-A		not specified	Uncertain significance (Jun 06, 2023)
11-113393665-A-G		not specified	Uncertain significance (Jan 09, 2024)
11-113393741-G-A		not specified	Uncertain significance (Dec 02, 2022)
11-113393745-C-T			Benign (Dec 31, 2019)
11-113393746-A-G		not specified	Uncertain significance (Jun 22, 2023)
11-113394939-T-G		not specified	Uncertain significance (Sep 26, 2022)
11-113394993-C-T		not specified	Uncertain significance (Mar 15, 2024)
11-113394994-G-A			Benign (Dec 31, 2019)
11-113394998-C-G		not specified	Uncertain significance (May 03, 2023)
11-113395002-G-A		ANKK1-related disorder	Benign (Dec 31, 2019)
11-113395017-A-G		not specified	Uncertain significance (Dec 01, 2022)
11-113395058-G-A		not specified	Uncertain significance (Nov 30, 2021)
11-113395070-G-T		not specified	Uncertain significance (May 11, 2022)
11-113395358-G-T		ANKK1-related disorder	Benign/Likely benign (Apr 06, 2022)
11-113395366-A-G		not specified	Uncertain significance (Jul 19, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANKK1	protein_coding	protein_coding	ENST00000303941	8	12628

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.40e-12	0.241	123607	9	1086	124702	0.00440

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0118	426	427	0.998	0.0000240	4837
Missense in Polyphen		101	108.19	0.9335		1516
Synonymous	0.250	184	188	0.977	0.0000116	1539
Loss of Function	0.929	20	25.0	0.800	0.00000124	276

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0550	0.0518
Ashkenazi Jewish	0.00	0.00
East Asian	0.00129	0.00128
Finnish	0.00178	0.00177
European (Non-Finnish)	0.00124	0.00122
Middle Eastern	0.00129	0.00128
South Asian	0.00125	0.00121
Other	0.00269	0.00264

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.110

Intolerance Scores

• loftool: 0.549
• rvis_EVS: 3.85
• rvis_percentile_EVS: 99.64

Haploinsufficiency Scores

• pHI: 0.0633
• hipred: N
• hipred_score: 0.144

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0491

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ankk1

Gene ontology

• Biological process: protein phosphorylation
• Molecular function: protein serine/threonine kinase activity;ATP binding