ANKRD12

ankyrin repeat domain 12, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 18:9136227-9285985

Links

ENSG00000101745 ∙ NCBI:23253 ∙ OMIM:610616 ∙ HGNC:29135 ∙ Uniprot:Q6UB98 ∙ 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 ANKRD12 gene.

• Inborn genetic diseases (66 variants)
• ANKRD12-related condition (5 variants)
• not provided (1 variants)
• See cases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKRD12 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			65	6		71
nonsense						0
start loss						0
frameshift			2			2
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	67	6	0

Variants in ANKRD12

This is a list of pathogenic ClinVar variants found in the ANKRD12 region.

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

Position	Type	Phenotype	Significance	ClinVar
18-9182496-G-T		ANKRD12-related disorder	Uncertain significance (Jun 27, 2023)
18-9182518-A-C		not specified	Uncertain significance (Dec 27, 2022)
18-9195555-A-G		not specified	Uncertain significance (Jan 10, 2023)
18-9195617-A-G		not specified	Uncertain significance (Dec 27, 2022)
18-9204490-C-T		not specified	Uncertain significance (Feb 22, 2023)
18-9204504-T-G		not specified	Uncertain significance (Sep 15, 2021)
18-9208671-G-C		not specified	Uncertain significance (Dec 13, 2023)
18-9208688-A-C		not specified	Uncertain significance (Oct 26, 2021)
18-9208722-A-G		not specified	Uncertain significance (Sep 16, 2021)
18-9211653-A-C		not specified	Uncertain significance (Mar 04, 2024)
18-9211674-G-T		not specified	Uncertain significance (Sep 21, 2023)
18-9221933-A-G		ANKRD12-related disorder	Uncertain significance (Aug 29, 2022)
18-9254238-C-T		not specified	Uncertain significance (Dec 07, 2021)
18-9254513-C-A		not specified	Uncertain significance (Dec 19, 2022)
18-9254646-A-G		not specified	Uncertain significance (Feb 15, 2023)
18-9254826-A-G		not specified	Uncertain significance (May 31, 2023)
18-9254832-G-A		not specified	Uncertain significance (Apr 22, 2022)
18-9254837-T-A		not specified	Uncertain significance (Dec 21, 2022)
18-9254838-C-G		not specified	Uncertain significance (Dec 06, 2022)
18-9254877-A-G		not specified	Uncertain significance (Jul 26, 2022)
18-9254886-C-T		not specified	Uncertain significance (Jun 06, 2023)
18-9255003-A-T		not specified	Uncertain significance (Feb 27, 2023)
18-9255005-C-A		not specified	Uncertain significance (Oct 26, 2022)
18-9255024-C-G		not specified	Uncertain significance (Sep 29, 2022)
18-9255083-A-G			Likely benign (Jul 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANKRD12	protein_coding	protein_coding	ENST00000262126	12	149758

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	5.55e-7	125705	0	43	125748	0.000171

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.557	928	977	0.950	0.0000471	13695
Missense in Polyphen		185	341.52	0.5417		4698
Synonymous	-2.64	409	346	1.18	0.0000170	3627
Loss of Function	7.34	9	79.7	0.113	0.00000456	1155

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000256	0.000243
Ashkenazi Jewish	0.000513	0.000397
East Asian	0.000175	0.000163
Finnish	0.000191	0.000185
European (Non-Finnish)	0.000204	0.000193
Middle Eastern	0.000175	0.000163
South Asian	0.000108	0.0000980
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May recruit HDACs to the p160 coactivators/nuclear receptor complex to inhibit ligand-dependent transactivation.

Recessive Scores

• pRec: 0.101

Intolerance Scores

• loftool: 0.590
• rvis_EVS: -0.11
• rvis_percentile_EVS: 45.36

Haploinsufficiency Scores

• pHI: 0.674
• hipred: N
• hipred_score: 0.414
• ghis: 0.548

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.842

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ankrd12

Gene ontology

• Cellular component: nucleoplasm;cytosol