ANKLE1

ankyrin repeat and LEM domain containing 1, the group of Ankyrin repeat domain containing|LEM domain containing|GIY-YIG endonuclease domain containing

Basic information

Region (hg38): 19:17281645-17287646

Previous symbols: [ "ANKRD41" ]

Links

ENSG00000160117 ∙ NCBI:126549 ∙ OMIM:619348 ∙ HGNC:26812 ∙ Uniprot:Q8NAG6 ∙ 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 ANKLE1 gene.

• not_specified (105 variants)
• not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKLE1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000152363.6. 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				1		1
missense			97	7	3	107
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	97	8	3

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANKLE1	protein_coding	protein_coding	ENST00000394458	9	6002

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.21e-18	0.00326	125543	0	49	125592	0.000195

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.855	324	370	0.875	0.0000213	3837
Missense in Polyphen		88	110.64	0.79535		1151
Synonymous	0.880	148	162	0.912	0.00000936	1364
Loss of Function	-0.168	26	25.1	1.04	0.00000125	257

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000479	0.000477
Ashkenazi Jewish	0.00	0.00
East Asian	0.000234	0.000218
Finnish	0.000181	0.000139
European (Non-Finnish)	0.000241	0.000238
Middle Eastern	0.000234	0.000218
South Asian	0.0000687	0.0000653
Other	0.000170	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Endonuclease that probably plays a role in the DNA damage response and DNA repair. {ECO:0000269|PubMed:22399800, ECO:0000269|PubMed:27245214}.

Recessive Scores

• pRec: 0.0944

Intolerance Scores

• loftool: 0.897
• rvis_EVS: 2.8
• rvis_percentile_EVS: 99.05

Haploinsufficiency Scores

• pHI: 0.0647
• hipred: N
• hipred_score: 0.123
• ghis: 0.421

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.154

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ankle1
• Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span)

Gene ontology

• Biological process: DNA repair;protein export from nucleus;nucleic acid phosphodiester bond hydrolysis;positive regulation of response to DNA damage stimulus
• Cellular component: nucleus;cytoplasm
• Molecular function: endonuclease activity;protein binding