ANKRD40

ankyrin repeat domain 40, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 17:50693198-50707914

Links

ENSG00000154945 ∙ NCBI:91369 ∙ ∙ HGNC:28233 ∙ Uniprot:Q6AI12 ∙ 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 ANKRD40 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKRD40 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			17			17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	0	0

Variants in ANKRD40

This is a list of pathogenic ClinVar variants found in the ANKRD40 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-50696056-C-T		not specified	Uncertain significance (Nov 17, 2022)
17-50697005-C-T		not specified	Uncertain significance (Oct 25, 2022)
17-50697032-G-T		not specified	Uncertain significance (Jan 03, 2022)
17-50699404-A-G		not specified	Uncertain significance (May 11, 2022)
17-50699453-C-T		not specified	Uncertain significance (Dec 28, 2022)
17-50699467-G-A		not specified	Uncertain significance (Jul 27, 2022)
17-50699473-T-C		not specified	Uncertain significance (Jun 10, 2024)
17-50699488-G-A		not specified	Uncertain significance (Dec 20, 2022)
17-50699528-G-A		not specified	Uncertain significance (Feb 27, 2023)
17-50699563-G-A		not specified	Uncertain significance (Mar 06, 2023)
17-50699576-C-T		not specified	Uncertain significance (Oct 05, 2023)
17-50699647-C-T		not specified	Uncertain significance (Nov 18, 2022)
17-50699650-G-T		not specified	Uncertain significance (Sep 29, 2023)
17-50699716-G-A		not specified	Uncertain significance (Mar 28, 2023)
17-50699870-C-T		not specified	Uncertain significance (Jan 24, 2023)
17-50699882-C-A		not specified	Uncertain significance (Nov 29, 2023)
17-50707623-T-A		not specified	Uncertain significance (Jan 06, 2023)
17-50707651-T-A		not specified	Uncertain significance (Sep 14, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANKRD40	protein_coding	protein_coding	ENST00000285243	5	14735

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.254	0.745	125725	0	23	125748	0.0000915

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.21	145	192	0.755	0.00000929	2372
Missense in Polyphen		24	49.835	0.48159		681
Synonymous	1.92	57	78.7	0.724	0.00000391	752
Loss of Function	2.83	4	16.3	0.245	0.00000101	181

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.000120	0.000109
Finnish	0.000231	0.000231
European (Non-Finnish)	0.0000910	0.0000879
Middle Eastern	0.000120	0.000109
South Asian	0.000164	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.544
• rvis_EVS: -0.1
• rvis_percentile_EVS: 46.49

Haploinsufficiency Scores

• pHI: 0.158
• hipred: Y
• hipred_score: 0.530
• ghis: 0.519

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.185

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ankrd40

Gene ontology

• Biological process: biological_process
• Cellular component: cellular_component
• Molecular function: molecular_function;protein binding