ANKIB1

protein-coding

ankyrin repeat and IBR domain containing 1, the group of Ankyrin repeat domain containing|RBR E3 ubiquitin ligases

Gene summary

Predicted to enable ubiquitin conjugating enzyme binding activity and ubiquitin protein ligase activity. Predicted to be involved in ubiquitin-dependent protein catabolic process. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_019004.2

Inheritance

—

ClinVar variants

U:117B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.1

Max pathogenic AF

—

Genomic locus

chr7:92,245,974-92,401,383

External References & Databases

Ensembl (ENSG00000001629)

Transcript & Mutation Effects

hg38 • Region Span ~155.4 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 ANKIB1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 105

not providedTotal: 5

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_019004.2. 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			5 clinvar	1 clinvar		6
missense			106 clinvar	3 clinvar	1 clinvar	110
nonsense			2 clinvar			2
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	117	4	1	122

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 29 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_019004.2	RefSeq	NP_061877.1	19	MANE Select
ENST00000265742.8	Ensembl	ENSP00000265742.3	19	MANE Select
ENST00000413588.1	Ensembl	ENSP00000406644.1	3	Standard
ENST00000422095.1	Ensembl	ENSP00000396406.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

protein polyubiquitination
ubiquitin-dependent protein catabolic process
positive regulation of proteasomal ubiquitin-dependent protein catabolic process

Molecular Function

protein binding
ubiquitin conjugating enzyme binding
metal ion binding
ubiquitin protein ligase activity

Cellular Component

ubiquitin ligase complex
cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000265742
Coding exons: 19
Length: 155151
Individuals with no LoFs: 124631
Homozygous LoFs: 0
Heterozygous LoFs: 13
Defined: 124644
p: 0.0000522

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	3.16	356	568	0.626	0.0000291	7168
Missense (PolyPhen)		75	195.86	0.38293		2437
Synonymous	2.09	154	191	0.808	0.00000950	2004
Loss of Function	5.95	5	50.7	0.0986	0.00000273	651

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000066	0.000065	rare
Latino/Admixed American	0.000030	0.000029	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0.000057	0.000056	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000072	0.000071	rare
South Asian	0	0.0	absent
Other	0.00017	0.00017	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Might act as an E3 ubiquitin-protein ligase, or as part of E3 complex, which accepts ubiquitin from specific E2 ubiquitin- conjugating enzymes and then transfers it to substrates. {ECO:0000250}.;

Intolerance Scores

LoFtool: 0.413
RVIS EVS: -0.73
RVIS percentile EVS: 14.08

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.880

Gene Damage Prediction

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