ANKDD1B

ankyrin repeat and death domain containing 1B, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 5:75611182-75681773

Links

ENSG00000189045 ∙ NCBI:728780 ∙ OMIM:619920 ∙ HGNC:32525 ∙ Uniprot:A6NHY2 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• ankylosing spondylitis (Limited), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ANKDD1B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKDD1B 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				2	6	8
nonsense				1	1	2
start loss						0
frameshift					1	1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			21	16	1	38
Total	0	0	21	19	9

Variants in ANKDD1B

This is a list of pathogenic ClinVar variants found in the ANKDD1B region.

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

Position	Type	Phenotype	Significance	ClinVar
5-75611640-C-G			Benign (Dec 31, 2019)
5-75611679-GGGGCTGCTGCTCC-G			Benign (Dec 31, 2019)
5-75611813-C-A			Benign (Dec 31, 2019)
5-75625897-G-A			Likely benign (Dec 26, 2018)
5-75635818-A-G			Benign (Dec 31, 2019)
5-75653218-T-C			Benign (Dec 31, 2019)
5-75656085-C-G			Benign (Dec 31, 2019)
5-75666984-C-T			Likely benign (Dec 31, 2019)
5-75666988-G-A			Benign (Dec 31, 2019)
5-75669267-G-A			Benign/Likely benign (May 01, 2023)
5-75669341-C-G			Benign (Dec 31, 2019)
5-75674436-T-C			Likely benign (Sep 12, 2023)
5-75674446-C-T			Uncertain significance (Mar 27, 2022)
5-75674468-G-T			Likely benign (Apr 09, 2022)
5-75674471-A-C			Likely benign (Nov 01, 2022)
5-75674499-A-G			Uncertain significance (Dec 11, 2023)
5-75674517-G-A		not specified	Uncertain significance (Nov 15, 2023)
5-75674518-T-C			Uncertain significance (Aug 22, 2022)
5-75674522-A-G			Likely benign (Jul 12, 2022)
5-75674530-G-T			Uncertain significance (Mar 20, 2022)
5-75674541-C-T			Uncertain significance (Apr 07, 2023)
5-75674542-G-A		not specified	Uncertain significance (Dec 13, 2023)
5-75674547-T-C			Uncertain significance (Jun 01, 2023)
5-75674556-G-T			Uncertain significance (Dec 13, 2023)
5-75674557-C-T			Uncertain significance (Nov 15, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANKDD1B	protein_coding	protein_coding	ENST00000601380	14	60388

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000144	0.852	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.54	135	195	0.691	0.00000978	3458
Missense in Polyphen		52	71.776	0.72447		1164
Synonymous	2.57	45	72.9	0.617	0.00000392	1014
Loss of Function	1.48	12	18.9	0.634	8.00e-7	304

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

Recessive Scores

• pRec: 0.0669

Haploinsufficiency Scores

• ghis: 0.439

Essentials

• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0385

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ankdd1b

Gene ontology

• Biological process: signal transduction