NRM

nurim

Basic information

Region (hg38): 6:30688047-30691420

Links

ENSG00000137404 ∙ NCBI:11270 ∙ OMIM:620017 ∙ HGNC:8003 ∙ Uniprot:Q8IXM6 ∙ 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 NRM gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NRM 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			13	3		16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	3	0

Variants in NRM

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

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

Position	Type	Phenotype	Significance	ClinVar
6-30688723-G-A		not specified	Uncertain significance (May 12, 2024)
6-30688783-G-C		not specified	Uncertain significance (Apr 27, 2023)
6-30688801-G-A		not specified	Uncertain significance (Jun 05, 2023)
6-30688809-C-A		not specified	Uncertain significance (Oct 20, 2024)
6-30688824-A-C		not specified	Uncertain significance (Jan 10, 2022)
6-30689308-A-G		not specified	Uncertain significance (May 07, 2024)
6-30689313-A-G		not specified	Uncertain significance (Dec 21, 2023)
6-30689361-C-A		not specified	Uncertain significance (Feb 03, 2023)
6-30689397-C-T		not specified	Likely benign (May 03, 2023)
6-30689421-T-C		not specified	Likely benign (Apr 01, 2024)
6-30689424-G-A		not specified	Uncertain significance (Jun 16, 2023)
6-30690078-A-G		not specified	Uncertain significance (Oct 22, 2024)
6-30690156-A-G		not specified	Uncertain significance (Nov 20, 2023)
6-30690183-C-A		not specified	Uncertain significance (Aug 04, 2024)
6-30690208-G-A		not specified	Uncertain significance (Sep 08, 2024)
6-30690861-G-C		not specified	Likely benign (Apr 06, 2023)
6-30690869-C-T		not specified	Uncertain significance (Jan 02, 2024)
6-30690872-G-A		not specified	Uncertain significance (Oct 01, 2024)
6-30690878-G-A		not specified	Uncertain significance (Dec 21, 2022)
6-30690887-A-T		not specified	Uncertain significance (Feb 14, 2023)
6-30690896-G-A		not specified	Likely benign (Mar 05, 2024)
6-30690905-C-G		not specified	Uncertain significance (Aug 10, 2021)
6-30690968-G-A		not specified	Uncertain significance (Jan 22, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NRM	protein_coding	protein_coding	ENST00000259953	4	3374

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0218	0.916	125735	0	12	125747	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.24	108	151	0.716	0.00000835	1623
Missense in Polyphen		35	61.696	0.5673		713
Synonymous	1.52	50	65.7	0.761	0.00000326	609
Loss of Function	1.59	4	9.20	0.435	3.93e-7	100

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000549	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000733	0.0000703
Middle Eastern	0.0000549	0.0000544
South Asian	0.0000657	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.577
• rvis_EVS: 0.01
• rvis_percentile_EVS: 54.95

Haploinsufficiency Scores

• pHI: 0.135
• hipred: N
• hipred_score: 0.208
• ghis: 0.534

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.219

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Nrm

Gene ontology

• Biological process: biological_process
• Cellular component: nuclear envelope;nuclear inner membrane;membrane;integral component of membrane;nuclear membrane
• Molecular function: molecular_function;protein binding