NOL4L

nucleolar protein 4 like

Basic information

Region (hg38): 20:32443059-32585333

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.

• not_specified (56 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. These statistics are base on transcript: NM_001256798.2. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense			54	2		56
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	54	4	0

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