NRSN1

neurensin 1

Basic information

Region (hg38): 6:24126186-24154900

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.

not_specified (22 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. These statistics are base on transcript: NM_000080723.5. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			22 clinvar			22
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	22	0	0

Loading clinvar variants...

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