ANKRD31

protein-coding

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

Gene summary

This gene encodes a protein containing multiple ankyrin repeats. Ankyrin domains function in protein-protein interactions in a variety of cellular processes. Mutations in this gene are associated with a Rett syndrome (RTT)-like phenotype. [provided by RefSeq, Apr 2017]

MANE transcript

NM_001372053.1

Inheritance

ClinVar variants

P:3U:237B:30

Top phenotype

inherited primary ovarian failure

gnomAD constraint

pLI —, LoF o/e 0.67

Max pathogenic AF

—

Genomic locus

chr5:75,068,275-75,236,911

External References & Databases

Ensembl (ENSG00000145700)

Transcript & Mutation Effects

hg38 • Region Span ~168.6 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

inherited primary ovarian failureSTRONG

Inheritance Pattern: AD

Disease ID:MONDO:0019852

Submitter: PanelApp Australia

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ANKRD31 variants in ClinVar

6 Conditions Cataloged

not specifiedTotal: 252

not providedTotal: 7

ANKRD31-related disorderTotal: 7

Genetic non-acquired premature ovarian failureTotal: 2

Inherited primary ovarian failureTotal: 1

Long QT syndromeTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001372053.1. 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				1 clinvar		1
missense			233 clinvar	26 clinvar	3 clinvar	262
nonsense	1 clinvar		3 clinvar			4
start loss						0
frameshift		1 clinvar	1 clinvar			2
splice donor/acceptor (+/-2bp)	1 clinvar					1
Total	2	1	237	27	3	270

Highest pathogenic variant AF is 0.00002081883

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 19 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001372053.1	RefSeq	NP_001358982.1	26	MANE Select
ENST00000506364.6	Ensembl	ENSP00000427262.2	26	MANE Select
NM_001164443.1	RefSeq	NP_001157915.1	25	Standard
ENST00000274361.3	Ensembl	ENSP00000274361.3	25	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000506364
Coding exons: 26
Length: 168604
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.69	664	799	0.831	0.0000366	12771
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Essential (CRISPR2): N
Indispensability pred.: N
Indispensability score: 0.0758

Gene Damage Prediction

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