ANKK1

protein-coding

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

Gene summary

The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and protein kinase superfamily involved in signal transduction pathways. This gene is closely linked to DRD2 gene (GeneID:1813) on chr 11, and a well studied restriction fragment length polymorphism (RFLP) designated TaqIA, was originally associated with the DRD2 gene, however, later was determined to be located in exon 8 of ANKK1 gene (PMIDs: 18621654, 15146457), where it causes a nonconservative amino acid substitution. It is not clear if this gene plays any role in neuropsychiatric disorders previously associated with Taq1A RFLP. [provided by RefSeq, Sep 2009]

MANE transcript

NM_178510.2

Inheritance

—

ClinVar variants

U:118B:37

Top phenotype

ANKK1-related disorder

gnomAD constraint

pLI —, LoF o/e 0.8

Max pathogenic AF

—

Genomic locus

chr11:113,387,779-113,400,416

External References & Databases

Ensembl (ENSG00000170209)

Transcript & Mutation Effects

hg38 • Region Span ~12.6 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ANKK1 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 129

ANKK1-related disorderTotal: 16

not providedTotal: 15

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_178510.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				6 clinvar	5 clinvar	11
missense			117 clinvar	20 clinvar	4 clinvar	141
nonsense					1 clinvar	1
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)					1 clinvar	1
Total	0	0	118	26	11	155

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 8 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_178510.2	RefSeq	NP_848605.1	8	MANE Select
ENST00000303941.4	Ensembl	ENSP00000306678.3	8	MANE Select
ENST00000542948.1	Ensembl	ENSP00000445810.1	2	Standard
ENST00001138041.1	Ensembl	ENSP00000805852.1	8	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

protein phosphorylation

Molecular Function

protein serine/threonine kinase activity
ATP binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000303941
Coding exons: 8
Length: 12628
Individuals with no LoFs: 123607
Homozygous LoFs: 9
Heterozygous LoFs: 1086
Defined: 124702
p: 0.00440

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.0118	426	427	0.998	0.0000240	4837
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.052	0.049	notable
Latino/Admixed American	0.0033	0.0031	notable
Ashkenazi Jewish	0	0.0	absent
East Asian	0.0013	0.0013	notable
Finnish	0.0018	0.0018	notable
European (Non-Finnish)	0.0012	0.0012	notable
South Asian	0.0012	0.0012	notable
Other	0.0027	0.0026	notable

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.110

Intolerance Scores

LoFtool: 0.549
RVIS EVS: 3.85
RVIS percentile EVS: 99.64

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0491

Gene Damage Prediction

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