ANKUB1

ankyrin repeat and ubiquitin domain containing 1, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 3:149761099-149968385

Previous symbols: [ "C3orf16" ]

Links

ENSG00000206199 ∙ NCBI:389161 ∙ ∙ HGNC:29642 ∙ Uniprot:A6NFN9 ∙ 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 ANKUB1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKUB1 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			33	2		35
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	33	2	0

Variants in ANKUB1

This is a list of pathogenic ClinVar variants found in the ANKUB1 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-149761497-T-C		not specified	Uncertain significance (Jan 18, 2022)
3-149761525-C-G		not specified	Uncertain significance (Oct 05, 2023)
3-149761527-C-T		not specified	Uncertain significance (Feb 15, 2023)
3-149761609-A-T		not specified	Uncertain significance (May 13, 2024)
3-149767175-T-C		not specified	Uncertain significance (Feb 09, 2023)
3-149767181-G-A		not specified	Uncertain significance (May 31, 2023)
3-149767277-G-T		not specified	Uncertain significance (Jul 05, 2023)
3-149767281-G-A		not specified	Uncertain significance (Jun 29, 2023)
3-149767313-G-A		not specified	Uncertain significance (Nov 17, 2022)
3-149767317-C-T		not specified	Uncertain significance (Jan 03, 2024)
3-149767320-G-C		not specified	Uncertain significance (Jun 24, 2022)
3-149767404-G-C		not specified	Uncertain significance (Apr 24, 2023)
3-149767425-C-A		not specified	Uncertain significance (Mar 21, 2024)
3-149767542-C-T		not specified	Uncertain significance (May 03, 2023)
3-149767569-C-A		not specified	Uncertain significance (Jul 12, 2023)
3-149767598-G-A		not specified	Uncertain significance (Mar 01, 2024)
3-149767613-T-C		not specified	Uncertain significance (Apr 15, 2024)
3-149767659-C-G		not specified	Likely benign (Sep 07, 2022)
3-149767661-C-T		not specified	Uncertain significance (Jul 30, 2023)
3-149767686-G-A		not specified	Uncertain significance (Dec 12, 2023)
3-149767709-T-G		not specified	Uncertain significance (Feb 22, 2023)
3-149767734-T-C		not specified	Uncertain significance (Aug 02, 2023)
3-149767746-T-G		not specified	Uncertain significance (Jun 04, 2024)
3-149767768-C-A		not specified	Uncertain significance (Feb 10, 2022)
3-149767836-T-C		not specified	Uncertain significance (Oct 05, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANKUB1	protein_coding	protein_coding	ENST00000446160	6	207281

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.20e-8	0.563	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.947	215	258	0.834	0.0000126	3530
Missense in Polyphen		54	67.594	0.79889		998
Synonymous	0.939	85	96.8	0.879	0.00000491	1064
Loss of Function	1.12	15	20.4	0.734	0.00000104	285

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: 0.366

Essentials

• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ankub1