NRDC

nardilysin convertase, the group of M16 metallopeptidases|MicroRNA protein coding host genes

Basic information

Region (hg38): 1:51789191-51878805

Previous symbols: [ "NRD1" ]

Links

ENSG00000078618 ∙ NCBI:4898 ∙ OMIM:602651 ∙ HGNC:7995 ∙ Uniprot:O43847 ∙ 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 NRDC gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NRDC 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					1	1
missense			6		1	7
nonsense						0
start loss						0
frameshift						0
inframe indel					1	1
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	0	3

Variants in NRDC

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

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

Position	Type	Phenotype	Significance	ClinVar
1-51789621-C-G		not specified	Uncertain significance (Sep 17, 2021)
1-51790633-T-C		not specified	Uncertain significance (Sep 16, 2021)
1-51792053-T-C		not specified	Uncertain significance (Oct 12, 2021)
1-51798341-C-T		not specified	Uncertain significance (Jan 22, 2024)
1-51812069-CAT-C			Uncertain significance (Sep 05, 2018)
1-51827840-A-G		not specified	Uncertain significance (Oct 29, 2021)
1-51840391-ATCT-A			Benign (Dec 29, 2021)
1-51840414-C-T		not specified	Uncertain significance (Oct 26, 2021)
1-51878439-G-A			Benign (Apr 16, 2018)
1-51878485-G-A			Benign (Dec 31, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NRDC	protein_coding	protein_coding	ENST00000354831	33	89615

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0441	0.956	125698	0	50	125748	0.000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.56	450	631	0.713	0.0000306	8052
Missense in Polyphen		82	186.94	0.43864		2436
Synonymous	0.826	218	234	0.931	0.0000120	2228
Loss of Function	5.75	17	68.3	0.249	0.00000304	878

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000304	0.000304
Ashkenazi Jewish	0.0000995	0.0000992
East Asian	0.000862	0.000761
Finnish	0.0000466	0.0000462
European (Non-Finnish)	0.000143	0.000132
Middle Eastern	0.000862	0.000761
South Asian	0.000353	0.000327
Other	0.000524	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Cleaves peptide substrates on the N-terminus of arginine residues in dibasic pairs.

Recessive Scores

• pRec: 0.103

Intolerance Scores

• rvis_EVS: -1.04
• rvis_percentile_EVS: 7.84

Haploinsufficiency Scores

• pHI: 0.538
• hipred: Y
• hipred_score: 0.644
• ghis: 0.550

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Nrd1
• Phenotype: growth/size/body region phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: proteolysis;neuromuscular junction development;cell population proliferation;cell migration;positive regulation of membrane protein ectodomain proteolysis;regulation of endopeptidase activity;negative regulation of cold-induced thermogenesis
• Cellular component: mitochondrion;cytosol;cell surface
• Molecular function: metalloendopeptidase activity;protein binding;metal ion binding;epidermal growth factor binding