SPX
Basic information
Region (hg38): 12:21526296-21541249
Previous symbols: [ "C12orf39" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the SPX 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 | |||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 9 | 2 | 0 |
Variants in SPX
This is a list of pathogenic ClinVar variants found in the SPX region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
12-21526911-C-T | not specified | Likely benign (Dec 19, 2023) | ||
12-21526941-T-C | not specified | Uncertain significance (Mar 15, 2023) | ||
12-21526958-G-C | not specified | Uncertain significance (Mar 25, 2022) | ||
12-21527142-T-C | not specified | Uncertain significance (Jan 30, 2024) | ||
12-21527759-A-G | not specified | Uncertain significance (May 06, 2022) | ||
12-21527765-G-A | not specified | Uncertain significance (Oct 04, 2022) | ||
12-21527777-C-T | not specified | Uncertain significance (Mar 19, 2024) | ||
12-21529007-G-A | not specified | Uncertain significance (Feb 10, 2022) | ||
12-21529033-A-G | not specified | Uncertain significance (Oct 17, 2023) | ||
12-21529046-C-A | not specified | Uncertain significance (Dec 30, 2023) | ||
12-21531137-A-C | not specified | Likely benign (Nov 22, 2023) | ||
12-21536211-GTTTA-G | Glycogen storage disorder due to hepatic glycogen synthase deficiency | Uncertain significance (Jun 14, 2016) | ||
12-21536270-G-A | Glycogen storage disorder due to hepatic glycogen synthase deficiency | Uncertain significance (Jan 13, 2018) | ||
12-21536300-C-T | Glycogen storage disorder due to hepatic glycogen synthase deficiency | Uncertain significance (Jan 13, 2018) | ||
12-21536322-AC-A | Glycogen storage disorder due to hepatic glycogen synthase deficiency | Uncertain significance (Jun 14, 2016) | ||
12-21536386-AT-A | Glycogen storage disorder due to hepatic glycogen synthase deficiency | Uncertain significance (Jun 14, 2016) | ||
12-21536409-C-T | Glycogen storage disorder due to hepatic glycogen synthase deficiency | Uncertain significance (Jan 13, 2018) | ||
12-21536434-T-C | Glycogen storage disorder due to hepatic glycogen synthase deficiency | Uncertain significance (Jan 12, 2018) | ||
12-21536486-A-G | Glycogen storage disorder due to hepatic glycogen synthase deficiency | Uncertain significance (Jan 13, 2018) | ||
12-21536496-T-A | Glycogen storage disorder due to hepatic glycogen synthase deficiency | Uncertain significance (Jan 12, 2018) | ||
12-21536516-T-TA | Glycogen storage disorder due to hepatic glycogen synthase deficiency | Likely benign (Jun 14, 2016) | ||
12-21536546-T-C | Glycogen storage disorder due to hepatic glycogen synthase deficiency | Uncertain significance (Jan 13, 2018) | ||
12-21536548-A-C | Glycogen storage disorder due to hepatic glycogen synthase deficiency | Uncertain significance (Jan 13, 2018) | ||
12-21536595-G-A | Glycogen storage disorder due to hepatic glycogen synthase deficiency | Uncertain significance (Jan 12, 2018) | ||
12-21536664-C-A | Glycogen storage disorder due to hepatic glycogen synthase deficiency | Benign (Apr 27, 2017) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
SPX | protein_coding | protein_coding | ENST00000256969 | 6 | 11071 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.000110 | 0.613 | 125719 | 0 | 28 | 125747 | 0.000111 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.115 | 63 | 60.5 | 1.04 | 0.00000294 | 737 |
Missense in Polyphen | 17 | 16.839 | 1.0096 | 199 | ||
Synonymous | 1.74 | 14 | 25.1 | 0.558 | 0.00000136 | 233 |
Loss of Function | 0.715 | 7 | 9.36 | 0.748 | 6.42e-7 | 84 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000333 | 0.000333 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000109 | 0.000109 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000967 | 0.0000967 |
Middle Eastern | 0.000109 | 0.000109 |
South Asian | 0.000196 | 0.000196 |
Other | 0.000326 | 0.000326 |
dbNSFP
Source:
- Function
- FUNCTION: Plays a role as a central modulator of cardiovascular and renal function and nociception. Plays also a role in energy metabolism and storage. Inhibits adrenocortical cell proliferation with minor stimulation on corticosteroid release (By similarity). {ECO:0000250}.; FUNCTION: Spexin-2: Intracerebroventricular administration of the peptide induces a decrease in heart rate, but no change in arterial pressure, and an increase in urine flow rate. Intraventricular administration of the peptide induces antinociceptive activity (By similarity). {ECO:0000250}.;
Intolerance Scores
- loftool
- rvis_EVS
- 0.06
- rvis_percentile_EVS
- 58
Haploinsufficiency Scores
- pHI
- 0.202
- hipred
- N
- hipred_score
- 0.180
- ghis
- 0.536
Essentials
- essential_gene_CRISPR
- essential_gene_CRISPR2
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- gene_indispensability_score
Mouse Genome Informatics
- Gene name
- Spx
- Phenotype
Gene ontology
- Biological process
- positive regulation of systemic arterial blood pressure;negative regulation of heart rate;regulation of signaling receptor activity;negative regulation of appetite;negative regulation of renal sodium excretion;long-chain fatty acid import;regulation of sensory perception of pain;positive regulation of gastro-intestinal system smooth muscle contraction
- Cellular component
- extracellular space;cytoplasm;transport vesicle;dense core granule
- Molecular function
- neuropeptide hormone activity