NOL4L

nucleolar protein 4 like

Basic information

Region (hg38): 20:32443058-32585333

Previous symbols: [ "C20orf113", "C20orf112" ]

Links

ENSG00000197183 ∙ NCBI:140688 ∙ OMIM:618893 ∙ HGNC:16106 ∙ Uniprot:Q96MY1 ∙ 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 NOL4L gene.

• Inborn genetic diseases (17 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NOL4L 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				2		2
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	2	0

Variants in NOL4L

This is a list of pathogenic ClinVar variants found in the NOL4L region.

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

Position	Type	Phenotype	Significance	ClinVar
20-32447727-C-T		not specified	Likely benign (Oct 13, 2023)
20-32447731-C-G		not specified	Uncertain significance (Nov 27, 2023)
20-32447768-G-A		not specified	Uncertain significance (Apr 12, 2022)
20-32447768-G-T		not specified	Uncertain significance (Nov 10, 2022)
20-32447786-G-A		not specified	Uncertain significance (Jan 03, 2024)
20-32447797-C-T		not specified	Uncertain significance (Jan 17, 2023)
20-32452241-C-G		not specified	Uncertain significance (Nov 12, 2021)
20-32452304-C-T		not specified	Uncertain significance (Dec 13, 2023)
20-32452328-T-C		not specified	Uncertain significance (Jun 27, 2023)
20-32452332-C-T		not specified	Uncertain significance (Nov 21, 2023)
20-32452409-T-G		not specified	Uncertain significance (Feb 26, 2024)
20-32452915-C-T		not specified	Uncertain significance (May 31, 2023)
20-32452996-G-A		not specified	Uncertain significance (Oct 26, 2022)
20-32453372-G-A		not specified	Uncertain significance (Jan 23, 2023)
20-32453712-C-T		not specified	Uncertain significance (Feb 14, 2024)
20-32453754-G-C		not specified	Uncertain significance (Sep 23, 2023)
20-32453754-G-T		not specified	Uncertain significance (Sep 14, 2021)
20-32456140-T-C		not specified	Uncertain significance (Apr 13, 2023)
20-32456149-C-T		not specified	Uncertain significance (Sep 29, 2022)
20-32456150-G-A		not specified	Uncertain significance (Jan 02, 2024)
20-32456163-G-C		not specified	Uncertain significance (Apr 07, 2023)
20-32456165-C-T		not specified	Uncertain significance (Dec 13, 2022)
20-32456172-G-A			Likely benign (Jul 01, 2022)
20-32456215-G-A		not specified	Uncertain significance (Dec 13, 2022)
20-32456218-G-A		not specified	Uncertain significance (Jun 10, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NOL4L	protein_coding	protein_coding	ENST00000359676	7	142015

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.995	0.00504	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.96	198	292	0.677	0.0000200	2857
Missense in Polyphen		49	121.4	0.40363		1149
Synonymous	-1.50	151	129	1.17	0.0000102	877
Loss of Function	3.67	0	15.7	0.00	7.66e-7	177

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.112

Intolerance Scores

• rvis_EVS: -1.05
• rvis_percentile_EVS: 7.66

Haploinsufficiency Scores

• pHI: 0.667
• hipred: Y
• hipred_score: 0.715
• ghis: 0.592

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Nol4l

Gene ontology

• Cellular component: nucleoplasm;cytosol
• Molecular function: protein binding