ANKRD42

ankyrin repeat domain 42, the group of Protein phosphatase 1 regulatory subunits|Ankyrin repeat domain containing

Basic information

Region (hg38): 11:83193711-83260694

Links

ENSG00000137494 ∙ NCBI:338699 ∙ OMIM:619778 ∙ HGNC:26752 ∙ Uniprot:Q8N9B4 ∙ 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 ANKRD42 gene.

• Inborn genetic diseases (21 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKRD42 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			19			19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			2			2
Total	0	0	21	0	0

Variants in ANKRD42

This is a list of pathogenic ClinVar variants found in the ANKRD42 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-83198524-G-A		not specified	Uncertain significance (Dec 20, 2023)
11-83198553-A-G		not specified	Uncertain significance (Jan 12, 2024)
11-83198554-T-C		not specified	Uncertain significance (Feb 11, 2022)
11-83206107-C-T		not specified	Uncertain significance (Apr 07, 2023)
11-83206152-A-T		not specified	Uncertain significance (Oct 20, 2021)
11-83210307-T-C		not specified	Uncertain significance (Jul 14, 2021)
11-83210345-G-A		not specified	Uncertain significance (Oct 05, 2023)
11-83210364-T-G		not specified	Uncertain significance (Oct 05, 2022)
11-83210388-T-C		not specified	Uncertain significance (Dec 28, 2022)
11-83210397-A-T		not specified	Uncertain significance (Jan 03, 2024)
11-83210403-T-C		not specified	Uncertain significance (Feb 12, 2024)
11-83211304-G-A		not specified	Uncertain significance (Dec 20, 2022)
11-83211331-G-A		not specified	Uncertain significance (Dec 28, 2023)
11-83211356-G-A		not specified	Uncertain significance (Aug 17, 2022)
11-83211385-T-C		not specified	Uncertain significance (May 24, 2023)
11-83224924-C-T		not specified	Uncertain significance (Oct 25, 2022)
11-83224942-T-C		not specified	Uncertain significance (Jan 09, 2023)
11-83224945-A-G		not specified	Uncertain significance (Oct 04, 2022)
11-83224969-A-C		not specified	Uncertain significance (Apr 05, 2023)
11-83225004-C-A		not specified	Uncertain significance (May 17, 2023)
11-83227781-G-C		not specified	Uncertain significance (Feb 28, 2024)
11-83227816-A-T		not specified	Uncertain significance (Nov 01, 2022)
11-83227840-G-A		not specified	Uncertain significance (Apr 13, 2022)
11-83227840-G-T		not specified	Uncertain significance (Feb 15, 2023)
11-83240793-G-A		not specified	Uncertain significance (Mar 27, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANKRD42	protein_coding	protein_coding	ENST00000393392	10	66956

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.14e-10	0.245	125570	0	177	125747	0.000704

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.134	205	210	0.974	0.0000101	2587
Missense in Polyphen		82	85.704	0.95678		1091
Synonymous	0.775	65	73.5	0.885	0.00000379	702
Loss of Function	0.762	17	20.7	0.819	0.00000106	250

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000577	0.000575
Ashkenazi Jewish	0.00	0.00
East Asian	0.00174	0.00174
Finnish	0.00349	0.00347
European (Non-Finnish)	0.000319	0.000316
Middle Eastern	0.00174	0.00174
South Asian	0.000658	0.000653
Other	0.000330	0.000326

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.104

Intolerance Scores

• loftool: 0.849
• rvis_EVS: 0.06
• rvis_percentile_EVS: 58.74

Haploinsufficiency Scores

• pHI: 0.148
• hipred: N
• hipred_score: 0.350
• ghis: 0.546

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.198

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ankrd42