ANKRD1

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

Basic information

Region (hg38): 10:90912096-90921087

Links

ENSG00000148677 ∙ NCBI:27063 ∙ OMIM:609599 ∙ HGNC:15819 ∙ Uniprot:Q15327 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• familial isolated dilated cardiomyopathy (Supportive), mode of inheritance: AD
• dilated cardiomyopathy (Limited), mode of inheritance: AD
• hypertrophic cardiomyopathy (Disputed Evidence), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ANKRD1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKRD1 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			3	60		63
missense			181	4		185
nonsense			16			16
start loss			2			2
frameshift			12			12
inframe indel			3			3
splice donor/acceptor (+/-2bp)			10			10
splice region			18	12	1	31
non coding			18	83	18	119
Total	0	0	245	147	18

Variants in ANKRD1

This is a list of pathogenic ClinVar variants found in the ANKRD1 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-90912224-C-T		Primary dilated cardiomyopathy	Uncertain significance (Apr 27, 2017)
10-90912232-C-T		Primary dilated cardiomyopathy	Uncertain significance (Jan 13, 2018)
10-90912239-T-C		Primary dilated cardiomyopathy	Uncertain significance (Jan 12, 2018)
10-90912259-G-T		Primary dilated cardiomyopathy	Uncertain significance (Jan 13, 2018)
10-90912278-T-G		Primary dilated cardiomyopathy	Likely benign (Jan 12, 2018)
10-90912291-TAAAAAAAAA-T		Dilated Cardiomyopathy, Dominant	Uncertain significance (Jun 14, 2016)
10-90912291-T-TAAAA		Dilated Cardiomyopathy, Dominant	Uncertain significance (Jun 14, 2016)
10-90912291-T-TAAAAA		Dilated Cardiomyopathy, Dominant	Uncertain significance (Jun 14, 2016)
10-90912317-AAAAAT-A		Dilated Cardiomyopathy, Dominant	Uncertain significance (Jun 14, 2016)
10-90912377-C-T		Primary dilated cardiomyopathy	Uncertain significance (Jan 15, 2018)
10-90912495-A-C		Primary dilated cardiomyopathy	Uncertain significance (Jan 12, 2018)
10-90912500-C-T		Primary dilated cardiomyopathy	Likely benign (Jan 12, 2018)
10-90912523-T-C		Primary dilated cardiomyopathy	Conflicting classifications of pathogenicity (Jan 01, 2023)
10-90912547-T-C		Primary dilated cardiomyopathy	Uncertain significance (Jan 12, 2018)
10-90912580-G-A		Primary dilated cardiomyopathy	Uncertain significance (Jan 13, 2018)
10-90912651-GTAAA-G		Dilated Cardiomyopathy, Dominant	Likely benign (Jun 14, 2016)
10-90912807-T-C		Primary dilated cardiomyopathy	Benign (Jun 14, 2018)
10-90912825-A-C		Primary dilated cardiomyopathy	Likely benign (Jan 13, 2018)
10-90912873-G-A		Cardiovascular phenotype	Uncertain significance (Feb 26, 2024)
10-90912876-G-A		Cardiovascular phenotype	Uncertain significance (May 19, 2024)
10-90912877-C-G		Cardiovascular phenotype	Uncertain significance (May 20, 2015)
10-90912879-A-G		ANKRD1-related dilated cardiomyopathy • Cardiovascular phenotype	Uncertain significance (Aug 31, 2023)
10-90912882-C-A		ANKRD1-related dilated cardiomyopathy	Uncertain significance (May 18, 2018)
10-90912882-C-G		Primary familial hypertrophic cardiomyopathy • Cardiovascular phenotype • ANKRD1-related dilated cardiomyopathy	Uncertain significance (Dec 26, 2023)
10-90912882-C-T		Cardiovascular phenotype • ANKRD1-related dilated cardiomyopathy	Uncertain significance (Aug 28, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANKRD1	protein_coding	protein_coding	ENST00000371697	9	9181

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.63e-10	0.150	125657	0	89	125746	0.000354

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.193	166	173	0.959	0.0000101	2085
Missense in Polyphen		56	55.972	1.0005		674
Synonymous	0.339	63	66.5	0.947	0.00000448	588
Loss of Function	0.474	16	18.2	0.880	0.00000107	228

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00128	0.00128
Ashkenazi Jewish	0.00	0.00
East Asian	0.000391	0.000381
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.000360	0.000352
Middle Eastern	0.000391	0.000381
South Asian	0.000164	0.000163
Other	0.000328	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play an important role in endothelial cell activation. May act as a nuclear transcription factor that negatively regulates the expression of cardiac genes. Induction seems to be correlated with apoptotic cell death in hepatoma cells. {ECO:0000269|PubMed:15805281, ECO:0000269|PubMed:7730328}.
• Disease: DISEASE: Total anomalous pulmonary venous return (TAPVR) [MIM:106700]: Rare congenital heart disease (CHD) in which the pulmonary veins fail to connect to the left atrium during cardiac development, draining instead into either the right atrium or one of its venous tributaries. This disease accounts for 1.5% of all CHDs and has a prevalence of approximately 1 out of 15'000 live births. {ECO:0000269|PubMed:18273862}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
• Pathway: Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha);Glucocorticoid Receptor Pathway;Nuclear Receptors Meta-Pathway;Hypertrophy Model (Consensus)

Recessive Scores

• pRec: 0.157

Intolerance Scores

• loftool: 0.821
• rvis_EVS: 0.17
• rvis_percentile_EVS: 65.76

Haploinsufficiency Scores

• pHI: 0.265
• hipred: N
• hipred_score: 0.397
• ghis: 0.435

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.996

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ankrd1
• Phenotype: growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); homeostasis/metabolism phenotype; muscle phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); normal phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;regulation of transcription by RNA polymerase II;skeletal muscle tissue development;positive regulation of neuron projection development;regulation of lipid metabolic process;cellular response to drug;response to muscle stretch;positive regulation of apoptotic process;positive regulation of DNA damage response, signal transduction by p53 class mediator;sarcomere organization;positive regulation of protein secretion;cardiac muscle tissue morphogenesis;cellular response to lipopolysaccharide;cellular response to mechanical stimulus;cellular response to interleukin-1;cellular response to tumor necrosis factor;cellular response to organic cyclic compound;cellular response to hypoxia;cellular response to transforming growth factor beta stimulus;positive regulation of nucleic acid-templated transcription;negative regulation of DNA biosynthetic process
• Cellular component: fibrillar center;nucleus;nucleoplasm;transcription factor complex;cytoplasm;cytosol;I band
• Molecular function: RNA polymerase II transcription factor binding;p53 binding;DNA binding;transcription coactivator activity;transcription corepressor activity;protein binding;titin binding;histone deacetylase binding;RNA polymerase II-specific DNA-binding transcription factor binding;R-SMAD binding