ANKRD55

ankyrin repeat domain 55, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 5:56099679-56233330

Links

ENSG00000164512 ∙ NCBI:79722 ∙ OMIM:615189 ∙ HGNC:25681 ∙ Uniprot:Q3KP44 ∙ 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 ANKRD55 gene.

• Inborn genetic diseases (34 variants)
• not provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKRD55 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				1	1	2
missense			33	3	1	37
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	4	2

Variants in ANKRD55

This is a list of pathogenic ClinVar variants found in the ANKRD55 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-56100195-A-T		not specified	Uncertain significance (Nov 08, 2022)
5-56100283-C-T		not specified	Uncertain significance (Dec 15, 2022)
5-56102495-T-A		not specified	Uncertain significance (Dec 11, 2023)
5-56102530-T-C		not specified	Uncertain significance (Mar 04, 2024)
5-56111163-C-A		not specified	Uncertain significance (Dec 15, 2022)
5-56111166-C-G		not specified	Uncertain significance (Sep 22, 2023)
5-56111219-G-A		not specified	Uncertain significance (Mar 29, 2023)
5-56111327-C-A		not specified	Uncertain significance (Dec 13, 2023)
5-56111349-C-T		not specified	Uncertain significance (Sep 01, 2021)
5-56111364-C-G		not specified	Uncertain significance (Nov 08, 2022)
5-56111441-C-T		not specified	Uncertain significance (Feb 10, 2023)
5-56111447-G-A		not specified	Uncertain significance (May 24, 2023)
5-56111454-T-C		not specified	Uncertain significance (Dec 06, 2021)
5-56111472-G-A		not specified	Uncertain significance (Jan 05, 2022)
5-56111514-C-T		not specified	Uncertain significance (Nov 07, 2022)
5-56111553-C-T		not specified	Uncertain significance (Feb 10, 2023)
5-56111622-A-G			Likely benign (Mar 01, 2024)
5-56111642-C-T		not specified	Likely benign (Jun 29, 2022)
5-56111670-C-T		not specified	Uncertain significance (May 11, 2022)
5-56111696-C-T			Likely benign (May 03, 2018)
5-56111700-A-G		not specified	Uncertain significance (Jan 23, 2023)
5-56111706-G-C		not specified	Uncertain significance (Nov 15, 2021)
5-56111748-T-C		not specified	Uncertain significance (May 26, 2022)
5-56116622-C-T		not specified	Uncertain significance (Sep 01, 2021)
5-56116649-T-C		not specified	Uncertain significance (Jun 27, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANKRD55	protein_coding	protein_coding	ENST00000341048	11	133680

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.76e-8	0.972	125697	0	51	125748	0.000203

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.171	341	350	0.974	0.0000193	4041
Missense in Polyphen		127	140.14	0.90623		1595
Synonymous	0.305	134	139	0.967	0.00000799	1205
Loss of Function	2.11	16	28.0	0.571	0.00000150	311

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000884	0.000882
Ashkenazi Jewish	0.000198	0.000198
East Asian	0.00	0.00
Finnish	0.000231	0.000231
European (Non-Finnish)	0.000213	0.000211
Middle Eastern	0.00	0.00
South Asian	0.0000653	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.836
• rvis_EVS: 0.16
• rvis_percentile_EVS: 64.85

Haploinsufficiency Scores

• pHI: 0.101
• hipred: N
• hipred_score: 0.289
• ghis: 0.450

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.553

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ankrd55

Zebrafish Information Network

• Gene name: ankrd55
• Affected structure: pancreatic B cell
• Phenotype tag: abnormal
• Phenotype quality: decreased area