NMU
Basic information
Region (hg38): 4:55595229-55636698
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (14 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the NMU gene is commonly pathogenic or not. These statistics are base on transcript: NM_000006681.4. 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 | 14 | 14 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 14 | 0 | 0 |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| NMU | protein_coding | protein_coding | ENST00000264218 | 9 | 41470 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.000415 | 0.964 | 125698 | 0 | 50 | 125748 | 0.000199 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.0714 | 85 | 86.9 | 0.978 | 0.00000446 | 1099 |
| Missense in Polyphen | 18 | 19.301 | 0.9326 | 255 | ||
| Synonymous | 0.757 | 29 | 34.7 | 0.836 | 0.00000186 | 324 |
| Loss of Function | 1.87 | 8 | 16.1 | 0.497 | 8.52e-7 | 173 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000152 | 0.000152 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000217 | 0.000217 |
| Finnish | 0.000878 | 0.000878 |
| European (Non-Finnish) | 0.000176 | 0.000176 |
| Middle Eastern | 0.000217 | 0.000217 |
| South Asian | 0.00 | 0.00 |
| Other | 0.000652 | 0.000652 |
dbNSFP
Source:
- Function
- FUNCTION: Stimulates muscle contractions of specific regions of the gastrointestinal tract. In humans, NmU stimulates contractions of the ileum and urinary bladder.;
- Pathway
- Signaling by GPCR;Signal Transduction;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (i) signalling events;G alpha (q) signalling events;GPCR downstream signalling
(Consensus)
Intolerance Scores
- loftool
- 0.649
- rvis_EVS
- 0.48
- rvis_percentile_EVS
- 79.04
Haploinsufficiency Scores
- pHI
- 0.416
- hipred
- N
- hipred_score
- 0.243
- ghis
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.277
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Nmu
- Phenotype
- growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); homeostasis/metabolism phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); liver/biliary system phenotype; immune system phenotype;
Zebrafish Information Network
- Gene name
- nmu
- Affected structure
- whole organism
- Phenotype tag
- abnormal
- Phenotype quality
- decreased weight
Gene ontology
- Biological process
- temperature homeostasis;gastric acid secretion;G protein-coupled receptor signaling pathway;positive regulation of cytosolic calcium ion concentration;neuropeptide signaling pathway;photoperiodism;positive regulation of heart rate;sensory perception of pain;positive regulation of heat generation;eating behavior;positive regulation of blood pressure in other organism;regulation of circadian sleep/wake cycle, sleep;positive regulation of smooth muscle contraction;positive regulation of synaptic transmission;negative regulation of gastric acid secretion;energy homeostasis;negative regulation of gastric emptying;positive regulation of stomach fundus smooth muscle contraction;positive regulation of prolactin secretion;negative regulation of eating behavior;positive regulation of sensory perception of pain;regulation of grooming behavior
- Cellular component
- extracellular region;terminal bouton
- Molecular function
- signaling receptor binding;protein binding;type 1 neuromedin U receptor binding;type 2 neuromedin U receptor binding;neuromedin U receptor binding