NOL7

nucleolar protein 7

Basic information

Region (hg38): 6:13615334-13632739

Previous symbols: [ "C6orf90", "PQBP3" ]

Links

ENSG00000225921 ∙ NCBI:51406 ∙ OMIM:611533 ∙ HGNC:21040 ∙ Uniprot:Q9UMY1 ∙ 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 NOL7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NOL7 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			10			10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	0	0

Variants in NOL7

This is a list of pathogenic ClinVar variants found in the NOL7 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-13615367-G-T		not specified	Uncertain significance (Jul 25, 2023)
6-13615381-C-A		not specified	Uncertain significance (Apr 15, 2024)
6-13615383-T-C		not specified	Uncertain significance (Jul 12, 2023)
6-13615419-G-C		not specified	Uncertain significance (Oct 26, 2022)
6-13615446-G-A		not specified	Uncertain significance (Sep 15, 2021)
6-13615459-G-A		not specified	Uncertain significance (Oct 17, 2023)
6-13615545-G-A		not specified	Uncertain significance (Nov 10, 2022)
6-13615606-T-G		not specified	Uncertain significance (May 01, 2024)
6-13615725-C-A		not specified	Uncertain significance (Oct 05, 2023)
6-13618064-T-C		not specified	Uncertain significance (Jan 23, 2024)
6-13620248-G-A		not specified	Uncertain significance (Dec 19, 2022)
6-13620790-G-A		not specified	Uncertain significance (Jan 26, 2022)
6-13622372-T-C		not specified	Uncertain significance (Aug 16, 2021)
6-13622397-A-C		not specified	Uncertain significance (Jan 24, 2024)
6-13622414-C-T		not specified	Uncertain significance (May 27, 2022)
6-13625691-C-T		not specified	Uncertain significance (Dec 22, 2023)
6-13632397-C-G		not specified	Uncertain significance (Jul 05, 2023)
6-13632434-T-C		not specified	Uncertain significance (Jul 16, 2021)
6-13632453-G-T		not specified	Uncertain significance (May 23, 2023)
6-13632490-C-A		not specified	Uncertain significance (Jun 16, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NOL7	protein_coding	protein_coding	ENST00000451315	8	17413

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.53e-8	0.340	125697	0	51	125748	0.000203

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.467	116	131	0.885	0.00000603	1656
Missense in Polyphen		43	45.345	0.94828		550
Synonymous	-0.366	57	53.6	1.06	0.00000262	458
Loss of Function	0.669	13	15.9	0.819	6.73e-7	193

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000336	0.000335
Ashkenazi Jewish	0.00	0.00
East Asian	0.000332	0.000326
Finnish	0.000279	0.000277
European (Non-Finnish)	0.000180	0.000176
Middle Eastern	0.000332	0.000326
South Asian	0.000337	0.000327
Other	0.000331	0.000326

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.106

Intolerance Scores

• loftool: 0.551
• rvis_EVS: 0.26
• rvis_percentile_EVS: 70.06

Haploinsufficiency Scores

• pHI: 0.266
• hipred: N
• hipred_score: 0.285
• ghis: 0.578

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.980

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Nol7

Gene ontology

• Cellular component: nucleus;nucleolus;mitochondrion
• Molecular function: RNA binding