NCOA7

nuclear receptor coactivator 7, the group of TLDc domain containing

Basic information

Region (hg38): 6:125781160-125932034

Links

ENSG00000111912 ∙ NCBI:135112 ∙ OMIM:609752 ∙ HGNC:21081 ∙ Uniprot:Q8NI08 ∙ 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 NCOA7 gene.

• Inborn genetic diseases (31 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NCOA7 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				1		1
missense			30	1		31
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	30	2	0

Variants in NCOA7

This is a list of pathogenic ClinVar variants found in the NCOA7 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-125815358-G-A		not specified	Uncertain significance (Sep 16, 2021)
6-125815386-A-G		not specified	Uncertain significance (Jul 25, 2023)
6-125855163-C-G		not specified	Uncertain significance (Sep 29, 2023)
6-125874910-A-C		not specified	Uncertain significance (Jun 12, 2023)
6-125874930-A-G		not specified	Uncertain significance (Jan 26, 2022)
6-125874949-A-G		not specified	Uncertain significance (Dec 01, 2022)
6-125882447-G-T		not specified	Uncertain significance (Jun 16, 2022)
6-125885228-C-G		not specified	Uncertain significance (Oct 25, 2023)
6-125885334-C-G		not specified	Uncertain significance (Sep 20, 2023)
6-125889041-C-A		not specified	Uncertain significance (Dec 07, 2021)
6-125889129-C-T		not specified	Uncertain significance (Jan 10, 2022)
6-125889186-A-T		not specified	Uncertain significance (Jan 09, 2024)
6-125889235-C-T		not specified	Uncertain significance (Sep 01, 2021)
6-125889244-C-A		not specified	Uncertain significance (Feb 06, 2023)
6-125889246-T-C		not specified	Uncertain significance (Dec 18, 2023)
6-125889288-G-A		not specified	Uncertain significance (Nov 30, 2022)
6-125889394-G-A		not specified	Uncertain significance (Feb 28, 2024)
6-125889559-C-T		not specified	Uncertain significance (Jun 28, 2022)
6-125889560-G-A			Likely benign (Mar 01, 2022)
6-125889595-A-G		not specified	Uncertain significance (Jun 17, 2022)
6-125889600-G-A		not specified	Uncertain significance (Aug 20, 2023)
6-125889667-A-C		not specified	Uncertain significance (Mar 14, 2023)
6-125889679-A-T		not specified	Uncertain significance (Jul 14, 2023)
6-125889687-T-A		not specified	Uncertain significance (Sep 22, 2023)
6-125889700-A-G		not specified	Uncertain significance (Dec 08, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NCOA7	protein_coding	protein_coding	ENST00000368357	15	149960

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000330	1.00	125706	0	42	125748	0.000167

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.563	463	498	0.929	0.0000251	6219
Missense in Polyphen		139	201.28	0.69059		2587
Synonymous	2.07	151	187	0.807	0.0000101	1744
Loss of Function	4.23	17	48.9	0.348	0.00000296	574

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000123	0.000123
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.000111	0.000109
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.000276	0.000273
Middle Eastern	0.000111	0.000109
South Asian	0.0000668	0.0000653
Other	0.000329	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Enhances the transcriptional activities of several nuclear receptors. Involved in the coactivation of different nuclear receptors, such as ESR1, THRB, PPARG and RARA. {ECO:0000269|PubMed:11971969}.
• Pathway: Aryl Hydrocarbon Receptor;Validated nuclear estrogen receptor alpha network (Consensus)

Recessive Scores

• pRec: 0.0933

Intolerance Scores

• loftool: 0.811
• rvis_EVS: -0.2
• rvis_percentile_EVS: 39.21

Haploinsufficiency Scores

• pHI: 0.109
• hipred: Y
• hipred_score: 0.694
• ghis: 0.500

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.777

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ncoa7

Gene ontology

• Biological process: positive regulation of transcription by RNA polymerase II;negative regulation of peptidyl-cysteine S-nitrosylation;negative regulation of oxidative stress-induced neuron death
• Cellular component: nucleus
• Molecular function: protein binding;nuclear receptor transcription coactivator activity;nuclear hormone receptor binding