NARF

nuclear prelamin A recognition factor

Basic information

Region (hg38): 17:82458180-82490537

Links

ENSG00000141562 ∙ NCBI:26502 ∙ OMIM:605349 ∙ HGNC:29916 ∙ Uniprot:Q9UHQ1 ∙ 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 NARF gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NARF 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			42	2		44
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	42	2	0

Variants in NARF

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

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

Position	Type	Phenotype	Significance	ClinVar
17-82458822-A-C		not specified	Uncertain significance (Nov 15, 2021)
17-82460018-T-A		not specified	Uncertain significance (Dec 03, 2021)
17-82460025-G-A		not specified	Uncertain significance (Jan 18, 2025)
17-82460055-G-C		not specified	Uncertain significance (Sep 12, 2023)
17-82460070-G-A		not specified	Uncertain significance (Oct 26, 2022)
17-82464314-G-A		not specified	Uncertain significance (Sep 20, 2024)
17-82464331-C-T		not specified	Likely benign (Feb 01, 2025)
17-82464384-C-G		not specified	Uncertain significance (Mar 06, 2023)
17-82464410-C-T		not specified	Uncertain significance (Dec 17, 2024)
17-82464413-G-A		not specified	Uncertain significance (Dec 03, 2021)
17-82468771-A-G		not specified	Uncertain significance (Apr 22, 2024)
17-82468888-A-G		not specified	Uncertain significance (Nov 10, 2024)
17-82472588-C-T		not specified	Uncertain significance (Apr 23, 2024)
17-82472597-C-T		not specified	Uncertain significance (May 17, 2023)
17-82472632-G-C		not specified	Uncertain significance (May 26, 2023)
17-82472635-C-T		not specified	Uncertain significance (Nov 21, 2024)
17-82472644-C-T		not specified	Uncertain significance (Aug 02, 2021)
17-82472645-G-A		not specified	Likely benign (May 25, 2022)
17-82472665-C-A		not specified	Uncertain significance (May 08, 2023)
17-82472665-C-T		not specified	Uncertain significance (Feb 16, 2023)
17-82472680-C-G		not specified	Uncertain significance (Apr 07, 2023)
17-82478833-G-A		not specified	Likely benign (Jan 25, 2023)
17-82478838-A-G		not specified	Likely benign (Jan 21, 2025)
17-82478859-G-A		not specified	Uncertain significance (Dec 12, 2023)
17-82478907-G-A		not specified	Uncertain significance (Jul 26, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NARF	protein_coding	protein_coding	ENST00000309794	11	32358

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.78e-13	0.0792	125697	0	51	125748	0.000203

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0378	279	277	1.01	0.0000168	2990
Missense in Polyphen		65	70.679	0.91965		954
Synonymous	0.0134	112	112	0.998	0.00000733	863
Loss of Function	0.503	20	22.6	0.886	0.00000118	274

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000269	0.000269
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000664	0.000653
Finnish	0.0000927	0.0000924
European (Non-Finnish)	0.000177	0.000176
Middle Eastern	0.000664	0.000653
South Asian	0.000230	0.000229
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.100

Intolerance Scores

• loftool: 0.891
• rvis_EVS: -1.15
• rvis_percentile_EVS: 6.23

Haploinsufficiency Scores

• pHI: 0.0469
• hipred: Y
• hipred_score: 0.651
• ghis: 0.584

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.962

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Narf

Gene ontology

• Cellular component: nucleus;lamin filament;nuclear lamina;nucleolus;nuclear lumen
• Molecular function: lamin binding