ANKRD29

ankyrin repeat domain 29, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 18:23598925-23662911

Links

ENSG00000154065 ∙ NCBI:147463 ∙ ∙ HGNC:27110 ∙ Uniprot:Q8N6D5 ∙ 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 ANKRD29 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKRD29 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			24			24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	24	0	0

Variants in ANKRD29

This is a list of pathogenic ClinVar variants found in the ANKRD29 region.

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

Position	Type	Phenotype	Significance	ClinVar
18-23601263-C-T		not specified	Uncertain significance (Dec 14, 2021)
18-23601268-T-C		not specified	Uncertain significance (Nov 14, 2023)
18-23601297-G-C		not specified	Uncertain significance (Aug 08, 2022)
18-23612105-G-T		not specified	Uncertain significance (Apr 20, 2024)
18-23612123-T-A		not specified	Uncertain significance (Dec 20, 2023)
18-23612148-T-C		not specified	Uncertain significance (Sep 14, 2022)
18-23612150-T-C		not specified	Uncertain significance (Sep 30, 2021)
18-23612154-C-T		not specified	Uncertain significance (Nov 14, 2023)
18-23612157-T-C		not specified	Uncertain significance (Sep 20, 2023)
18-23612168-G-A		not specified	Uncertain significance (Sep 26, 2023)
18-23617742-C-G		not specified	Uncertain significance (Apr 27, 2023)
18-23617756-G-C		not specified	Uncertain significance (Mar 31, 2024)
18-23617765-C-A		not specified	Uncertain significance (Jun 11, 2021)
18-23617770-C-T		not specified	Uncertain significance (Jan 26, 2022)
18-23617781-T-G		not specified	Uncertain significance (May 06, 2022)
18-23617812-A-T		not specified	Uncertain significance (Feb 03, 2022)
18-23619560-G-C		not specified	Uncertain significance (Dec 12, 2022)
18-23619605-C-G		not specified	Uncertain significance (Jul 26, 2022)
18-23629914-C-A		not specified	Uncertain significance (Apr 01, 2024)
18-23638872-C-T		not specified	Uncertain significance (Nov 17, 2022)
18-23638899-C-T		not specified	Uncertain significance (Jun 29, 2023)
18-23638903-A-C		not specified	Uncertain significance (Jan 16, 2024)
18-23638907-T-C		not specified	Uncertain significance (Apr 23, 2024)
18-23646206-T-C		not specified	Uncertain significance (Aug 02, 2021)
18-23649102-T-A		not specified	Uncertain significance (Jul 06, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANKRD29	protein_coding	protein_coding	ENST00000592179	10	63960

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.35e-9	0.251	125708	0	40	125748	0.000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.453	153	170	0.902	0.00000891	1926
Missense in Polyphen		57	66.339	0.85923		731
Synonymous	1.31	57	71.0	0.803	0.00000398	639
Loss of Function	0.572	14	16.5	0.848	8.70e-7	191

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000272	0.000271
Ashkenazi Jewish	0.00	0.00
East Asian	0.000383	0.000381
Finnish	0.00	0.00
European (Non-Finnish)	0.000197	0.000193
Middle Eastern	0.000383	0.000381
South Asian	0.0000982	0.0000980
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0740

Intolerance Scores

• loftool: 0.736
• rvis_EVS: -0.38
• rvis_percentile_EVS: 27.69

Haploinsufficiency Scores

• pHI: 0.0897
• hipred: N
• hipred_score: 0.309
• ghis: 0.527

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0723

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ankrd29