ANKMY2

ankyrin repeat and MYND domain containing 2, the group of Ankyrin repeat domain containing|Zinc fingers MYND-type

Basic information

Region (hg38): 7:16599779-16645817

Links

ENSG00000106524 ∙ NCBI:57037 ∙ ∙ HGNC:25370 ∙ Uniprot:Q8IV38 ∙ 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 ANKMY2 gene.

• not_specified (56 variants)
• High_myopia (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKMY2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000020319.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			58			58
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			6			6
Total	0	0	64	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANKMY2	protein_coding	protein_coding	ENST00000306999	10	46042

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000352	0.947	125699	0	49	125748	0.000195

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.151	221	227	0.972	0.0000109	2912
Missense in Polyphen		56	64.242	0.87171		842
Synonymous	-0.215	84	81.5	1.03	0.00000420	794
Loss of Function	1.82	12	21.0	0.571	0.00000120	259

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00102	0.00102
Ashkenazi Jewish	0.00	0.00
East Asian	0.000164	0.000163
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000124	0.000123
Middle Eastern	0.000164	0.000163
South Asian	0.0000327	0.0000327
Other	0.000328	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in the trafficking of signaling proteins to the cilia. {ECO:0000250}.

Intolerance Scores

• loftool: 0.541
• rvis_EVS: -0.02
• rvis_percentile_EVS: 52.09

Haploinsufficiency Scores

• pHI: 0.358
• hipred: N
• hipred_score: 0.365
• ghis: 0.525

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.475

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ankmy2

Gene ontology

• Cellular component: cilium
• Molecular function: protein binding;enzyme binding;metal ion binding