SPX

spexin hormone

Basic information

Region (hg38): 12:21526296-21541249

Previous symbols: [ "C12orf39" ]

Links

ENSG00000134548NCBI:80763OMIM:619246HGNC:28139Uniprot:Q9BT56AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SPX gene.

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
9
clinvar
2
clinvar
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)3169773
12-21526941-T-C not specified Uncertain significance (Mar 15, 2023)2526023
12-21526958-G-C not specified Uncertain significance (Mar 25, 2022)2279851
12-21527142-T-C not specified Uncertain significance (Jan 30, 2024)3169774
12-21527759-A-G not specified Uncertain significance (May 06, 2022)2350230
12-21527765-G-A not specified Uncertain significance (Oct 04, 2022)2346756
12-21527777-C-T not specified Uncertain significance (Mar 19, 2024)2270910
12-21529007-G-A not specified Uncertain significance (Feb 10, 2022)2229513
12-21529033-A-G not specified Uncertain significance (Oct 17, 2023)3169770
12-21529046-C-A not specified Uncertain significance (Dec 30, 2023)3169771
12-21531137-A-C not specified Likely benign (Nov 22, 2023)3169772
12-21536211-GTTTA-G Glycogen storage disorder due to hepatic glycogen synthase deficiency Uncertain significance (Jun 14, 2016)307976
12-21536270-G-A Glycogen storage disorder due to hepatic glycogen synthase deficiency Uncertain significance (Jan 13, 2018)307977
12-21536300-C-T Glycogen storage disorder due to hepatic glycogen synthase deficiency Uncertain significance (Jan 13, 2018)883250
12-21536322-AC-A Glycogen storage disorder due to hepatic glycogen synthase deficiency Uncertain significance (Jun 14, 2016)307978
12-21536386-AT-A Glycogen storage disorder due to hepatic glycogen synthase deficiency Uncertain significance (Jun 14, 2016)307979
12-21536409-C-T Glycogen storage disorder due to hepatic glycogen synthase deficiency Uncertain significance (Jan 13, 2018)883251
12-21536434-T-C Glycogen storage disorder due to hepatic glycogen synthase deficiency Uncertain significance (Jan 12, 2018)307980
12-21536486-A-G Glycogen storage disorder due to hepatic glycogen synthase deficiency Uncertain significance (Jan 13, 2018)884057
12-21536496-T-A Glycogen storage disorder due to hepatic glycogen synthase deficiency Uncertain significance (Jan 12, 2018)884058
12-21536516-T-TA Glycogen storage disorder due to hepatic glycogen synthase deficiency Likely benign (Jun 14, 2016)307981
12-21536546-T-C Glycogen storage disorder due to hepatic glycogen synthase deficiency Uncertain significance (Jan 13, 2018)884059
12-21536548-A-C Glycogen storage disorder due to hepatic glycogen synthase deficiency Uncertain significance (Jan 13, 2018)884060
12-21536595-G-A Glycogen storage disorder due to hepatic glycogen synthase deficiency Uncertain significance (Jan 12, 2018)307982
12-21536664-C-A Glycogen storage disorder due to hepatic glycogen synthase deficiency Benign (Apr 27, 2017)884061

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
SPXprotein_codingprotein_codingENST00000256969 611071
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.0001100.6131257190281257470.000111
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.1156360.51.040.00000294737
Missense in Polyphen1716.8391.0096199
Synonymous1.741425.10.5580.00000136233
Loss of Function0.71579.360.7486.42e-784

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0003330.000333
Ashkenazi Jewish0.000.00
East Asian0.0001090.000109
Finnish0.000.00
European (Non-Finnish)0.00009670.0000967
Middle Eastern0.0001090.000109
South Asian0.0001960.000196
Other0.0003260.000326

dbNSFP

Source: dbNSFP

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