NRSN1

neurensin 1

Basic information

Region (hg38): 6:24126185-24154900

Previous symbols: [ "VMP" ]

Links

ENSG00000152954 ∙ NCBI:140767 ∙ OMIM:616630 ∙ HGNC:17881 ∙ Uniprot:Q8IZ57 ∙ 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 NRSN1 gene.

• Inborn genetic diseases (11 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NRSN1 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			11			11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	0	0

Variants in NRSN1

This is a list of pathogenic ClinVar variants found in the NRSN1 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-24134364-G-A		not specified	Uncertain significance (Jul 20, 2021)
6-24134395-G-A		not specified	Uncertain significance (Jul 26, 2022)
6-24134409-T-G		not specified	Uncertain significance (Mar 27, 2023)
6-24134431-A-G		not specified	Uncertain significance (Dec 01, 2022)
6-24134437-G-A		not specified	Uncertain significance (Dec 21, 2022)
6-24134437-G-C		not specified	Uncertain significance (Jun 06, 2023)
6-24134506-T-C		not specified	Uncertain significance (Aug 17, 2022)
6-24145653-G-T		not specified	Uncertain significance (Jul 21, 2021)
6-24145789-C-T		not specified	Uncertain significance (Sep 25, 2023)
6-24145821-A-C		not specified	Uncertain significance (Nov 17, 2022)
6-24145846-C-A		not specified	Uncertain significance (Jul 07, 2022)
6-24145858-C-T		not specified	Uncertain significance (Aug 06, 2021)
6-24145929-C-G		not specified	Uncertain significance (Aug 10, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NRSN1	protein_coding	protein_coding	ENST00000378491	2	28779

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000308	0.594	125670	0	76	125746	0.000302

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.591	91	108	0.840	0.00000575	1257
Missense in Polyphen		25	31.393	0.79636		355
Synonymous	0.707	39	45.0	0.866	0.00000258	400
Loss of Function	0.592	6	7.78	0.771	4.30e-7	83

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000510	0.000510
Ashkenazi Jewish	0.00149	0.00149
East Asian	0.00	0.00
Finnish	0.000231	0.000231
European (Non-Finnish)	0.000378	0.000378
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play an important role in neural organelle transport, and in transduction of nerve signals or in nerve growth. May play a role in neurite extension. May play a role in memory consolidation (By similarity). {ECO:0000250|UniProtKB:P97799, ECO:0000269|PubMed:12463420}.

Recessive Scores

• pRec: 0.103

Intolerance Scores

• loftool: 0.674
• rvis_EVS: -0.07
• rvis_percentile_EVS: 48.12

Haploinsufficiency Scores

• pHI: 0.0907
• hipred: N
• hipred_score: 0.398
• ghis: 0.582

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.539

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Nrsn1
• Phenotype: homeostasis/metabolism phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: nervous system development
• Cellular component: integral component of membrane;transport vesicle;growth cone;cytoplasmic vesicle;neuron projection;neuronal cell body
• Molecular function: protein binding