ANKIB1

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

Basic information

Region (hg38): 7:92245973-92401383

Links

ENSG00000001629 ∙ NCBI:54467 ∙ OMIM:620069 ∙ HGNC:22215 ∙ Uniprot:Q9P2G1 ∙ 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 ANKIB1 gene.

• Inborn genetic diseases (40 variants)
• Cerebral cavernous malformation (8 variants)
• Angiokeratoma corporis diffusum with arteriovenous fistulas (8 variants)
• not provided (3 variants)
• not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKIB1 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			38	2	1	41
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			4	2	2	8
Total	0	0	42	4	3

Variants in ANKIB1

This is a list of pathogenic ClinVar variants found in the ANKIB1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
7-92245996-C-T		Cerebral cavernous malformation • Angiokeratoma corporis diffusum with arteriovenous fistulas • not specified	Benign (Apr 03, 2018)
7-92246005-T-C		Angiokeratoma corporis diffusum with arteriovenous fistulas • Cerebral cavernous malformation	Benign/Likely benign (Apr 01, 2023)
7-92246007-C-G		Cerebral cavernous malformation • Angiokeratoma corporis diffusum with arteriovenous fistulas	Uncertain significance (Jan 13, 2018)
7-92246014-C-T		Cerebral cavernous malformation • Angiokeratoma corporis diffusum with arteriovenous fistulas	Uncertain significance (Jan 13, 2018)
7-92246017-G-A		Angiokeratoma corporis diffusum with arteriovenous fistulas • Cerebral cavernous malformation	Benign/Likely benign (May 01, 2023)
7-92246057-G-A		Cerebral cavernous malformation • Angiokeratoma corporis diffusum with arteriovenous fistulas	Benign (Jan 13, 2018)
7-92246086-C-A		Angiokeratoma corporis diffusum with arteriovenous fistulas • Cerebral cavernous malformation	Uncertain significance (Jan 13, 2018)
7-92246090-T-TGAGCCG		Angiokeratoma corporis diffusum with arteriovenous fistulas • Cerebral cavernous malformation	Uncertain significance (Jun 14, 2016)
7-92295161-A-G		not specified	Uncertain significance (Feb 10, 2022)
7-92307370-G-A		not specified	Uncertain significance (Jan 06, 2023)
7-92307489-A-G		not specified	Likely benign (Mar 01, 2023)
7-92307558-C-G		not specified	Uncertain significance (Jun 24, 2022)
7-92307560-G-T		not specified	Uncertain significance (Mar 02, 2023)
7-92319495-G-A		not specified	Uncertain significance (Oct 05, 2023)
7-92319508-G-A		not specified	Uncertain significance (Apr 12, 2022)
7-92327783-C-A		not specified	Uncertain significance (May 31, 2023)
7-92327883-C-G		not specified	Uncertain significance (Oct 29, 2021)
7-92343060-C-G		not specified	Uncertain significance (Aug 14, 2023)
7-92343100-G-A		not specified	Uncertain significance (Nov 07, 2022)
7-92343167-A-G		not specified	Uncertain significance (Aug 08, 2023)
7-92343228-G-T		not specified	Uncertain significance (Nov 02, 2023)
7-92352560-A-G		not specified	Uncertain significance (Oct 26, 2022)
7-92352564-C-T		not specified	Uncertain significance (Feb 13, 2024)
7-92352566-T-C		not specified	Uncertain significance (Aug 02, 2022)
7-92386548-A-G		not specified	Uncertain significance (Jan 03, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANKIB1	protein_coding	protein_coding	ENST00000265742	19	155151

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.0000396	124631	0	13	124644	0.0000522

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.16	356	568	0.626	0.0000291	7168
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000955	0.0000942
Ashkenazi Jewish	0.0000995	0.0000993
East Asian	0.0000567	0.0000556
Finnish	0.00	0.00
European (Non-Finnish)	0.0000717	0.0000708
Middle Eastern	0.0000567	0.0000556
South Asian	0.00	0.00
Other	0.000166	0.000165

dbNSFP

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

Haploinsufficiency Scores

• pHI: 0.528
• hipred: Y
• hipred_score: 0.728
• ghis: 0.630

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.880

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ankib1
• Phenotype: homeostasis/metabolism phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); skeleton phenotype; limbs/digits/tail phenotype

Gene ontology

• Biological process: protein polyubiquitination;ubiquitin-dependent protein catabolic process;positive regulation of proteasomal ubiquitin-dependent protein catabolic process
• Cellular component: ubiquitin ligase complex;cytoplasm
• Molecular function: protein binding;ubiquitin conjugating enzyme binding;metal ion binding;ubiquitin protein ligase activity