ANKRD7

ankyrin repeat domain 7, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 7:118214669-118496171

Links

ENSG00000106013 ∙ NCBI:56311 ∙ OMIM:610731 ∙ HGNC:18588 ∙ Uniprot:Q92527 ∙ 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 ANKRD7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKRD7 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			12	1		13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	1	0

Variants in ANKRD7

This is a list of pathogenic ClinVar variants found in the ANKRD7 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-118224895-G-A		not specified	Uncertain significance (Nov 30, 2022)
7-118224895-G-C		not specified	Uncertain significance (Aug 12, 2022)
7-118224906-T-G		not specified	Uncertain significance (Dec 15, 2023)
7-118224963-C-T		not specified	Uncertain significance (Jan 26, 2022)
7-118234433-C-T		not specified	Uncertain significance (Oct 25, 2022)
7-118234453-G-A		not specified	Uncertain significance (Mar 16, 2022)
7-118234491-G-C		not specified	Uncertain significance (Nov 14, 2023)
7-118234755-G-A		not specified	Uncertain significance (Mar 15, 2024)
7-118234776-C-T		not specified	Uncertain significance (Sep 29, 2023)
7-118234777-G-A		not specified	Uncertain significance (Jan 23, 2024)
7-118236089-A-G		not specified	Uncertain significance (Feb 21, 2024)
7-118236122-G-A		not specified	Uncertain significance (Nov 27, 2023)
7-118236881-G-A		not specified	Likely benign (Aug 09, 2021)
7-118236893-C-A		not specified	Uncertain significance (Jul 25, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANKRD7	protein_coding	protein_coding	ENST00000265224	6	28059

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000430	0.633	124751	0	36	124787	0.000144

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.971	99	130	0.761	0.00000646	1669
Missense in Polyphen		18	36.925	0.48747		511
Synonymous	1.19	38	48.5	0.784	0.00000249	459
Loss of Function	0.953	10	13.8	0.723	7.43e-7	175

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000152	0.000152
Ashkenazi Jewish	0.00	0.00
East Asian	0.00100	0.00100
Finnish	0.0000470	0.0000464
European (Non-Finnish)	0.000107	0.000106
Middle Eastern	0.00100	0.00100
South Asian	0.00	0.00
Other	0.000165	0.000165

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.724
• rvis_EVS: 0.75
• rvis_percentile_EVS: 86.48

Haploinsufficiency Scores

• pHI: 0.349
• hipred: N
• hipred_score: 0.173

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.427

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ankrd7

Gene ontology

• Biological process: male gonad development