ANKRD31

ankyrin repeat domain 31, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 5:75068275-75236911

Links

ENSG00000145700 ∙ NCBI:256006 ∙ OMIM:618423 ∙ HGNC:26853 ∙ Uniprot:Q8N7Z5 ∙ 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 ANKRD31 gene.

• not_specified (221 variants)
• not_provided (6 variants)
• ANKRD31-related_disorder (5 variants)
• Genetic_non-acquired_premature_ovarian_failure (2 variants)
• Inherited_primary_ovarian_failure (1 variants)
• Long_QT_syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKRD31 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001372053.1. 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			203	22	3	228
nonsense	1					1
start loss						0
frameshift		1				1
splice donor/acceptor (+/-2bp)	1					1
Total	2	1	203	23	3

Highest pathogenic variant AF is 0.0000208188

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANKRD31	protein_coding	protein_coding	ENST00000506364	26	168604

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.87e-21	0.882	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.69	664	799	0.831	0.0000366	12771
Missense in Polyphen		122	161.38	0.75598		2886
Synonymous	2.17	242	289	0.837	0.0000137	3459
Loss of Function	2.42	43	63.9	0.673	0.00000272	1182

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.129

Essentials

• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0758

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ankrd31