ANKRD54

ankyrin repeat domain 54, the group of Ankyrin repeat domain containing|MicroRNA protein coding host genes

Basic information

Region (hg38): 22:37830855-37849327

Links

ENSG00000100124 ∙ NCBI:129138 ∙ OMIM:613383 ∙ HGNC:25185 ∙ Uniprot:Q6NXT1 ∙ 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 ANKRD54 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKRD54 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
missense			25	1		26
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	25	1	1

Variants in ANKRD54

This is a list of pathogenic ClinVar variants found in the ANKRD54 region.

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

Position	Type	Phenotype	Significance	ClinVar
22-37831963-G-C		not specified	Uncertain significance (Nov 11, 2024)
22-37832668-G-C		not specified	Uncertain significance (Feb 08, 2025)
22-37832686-C-T		not specified	Uncertain significance (Nov 07, 2023)
22-37832687-G-A		not specified	Uncertain significance (Jul 20, 2021)
22-37832714-G-A		not specified	Uncertain significance (Dec 03, 2021)
22-37832738-G-A		not specified	Uncertain significance (May 15, 2024)
22-37832974-C-T		not specified	Uncertain significance (Feb 01, 2025)
22-37832980-G-A		not specified	Uncertain significance (Mar 07, 2023)
22-37833038-G-A		not specified	Uncertain significance (Dec 27, 2022)
22-37833044-G-C		not specified	Uncertain significance (Oct 29, 2024)
22-37833044-G-T		not specified	Uncertain significance (Oct 01, 2024)
22-37833183-C-T		not specified	Uncertain significance (Jan 08, 2024)
22-37833716-C-T		not specified	Uncertain significance (May 16, 2022)
22-37833744-G-A			Benign (May 30, 2017)
22-37838502-A-G		not specified	Uncertain significance (Sep 01, 2021)
22-37838545-G-A		not specified	Uncertain significance (Apr 08, 2024)
22-37838574-G-A		not specified	Likely benign (Jun 16, 2024)
22-37838575-C-T		not specified	Uncertain significance (Jan 24, 2023)
22-37840213-G-A		not specified	Uncertain significance (Mar 31, 2022)
22-37843916-A-C		not specified	Uncertain significance (Aug 16, 2021)
22-37843925-C-A		not specified	Uncertain significance (Sep 30, 2024)
22-37843937-A-C		not specified	Uncertain significance (Oct 06, 2021)
22-37843963-C-A		not specified	Uncertain significance (Mar 07, 2025)
22-37843977-C-T		not specified	Uncertain significance (Jan 08, 2024)
22-37843980-G-A		not specified	Uncertain significance (Aug 10, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANKRD54	protein_coding	protein_coding	ENST00000215941	8	18473

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00201	0.979	125728	0	14	125742	0.0000557

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.935	117	149	0.785	0.00000837	1868
Missense in Polyphen		31	52.767	0.58749		628
Synonymous	-0.859	71	62.4	1.14	0.00000317	628
Loss of Function	2.06	7	15.9	0.441	0.00000103	157

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000184	0.000181
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000794	0.0000791
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays an important role in regulating intracellular signaling events associated with erythroid terminal differentiation. {ECO:0000250}.

Recessive Scores

• pRec: 0.113

Haploinsufficiency Scores

• pHI: 0.160
• hipred: N
• hipred_score: 0.247
• ghis: 0.626

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.467

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ankrd54

Gene ontology

• Biological process: nucleocytoplasmic transport;positive regulation of erythrocyte differentiation;regulation of protein kinase activity;regulation of intracellular signal transduction
• Cellular component: nucleus;cytoplasm;midbody
• Molecular function: protein binding;protein kinase regulator activity;protein-containing complex binding