PSORS1C2
protein-codingpsoriasis susceptibility 1 candidate 2
Gene summary
Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025]
- C6orf17
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~1.5 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to PSORS1C2 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_014069.3. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 16 | 1 | 17 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 16 | 0 | 1 | 17 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_054788.2 | 2 | MANE Select | |
| Ensembl | ENSP00000259845.4 | 2 | MANE Select | |
| Ensembl | ENSP00000803014.1 | 2 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- biological_process
Molecular Function
- molecular_function
Cellular Component
- cellular_component
- extracellular region
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000259845
- Coding exons
- 2
- Length
- 1815
- Individuals with no LoFs
- 110469
- Homozygous LoFs
- 766
- Heterozygous LoFs
- 14493
- Defined
- 125728
- p
- 0.0626
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.260 | 65 | 71.2 | 0.913 | 0.00000376 | 834 |
| Missense (PolyPhen) | 26 | 30.38 | 0.85582 | 353 | ||
| Synonymous | 0.933 | 22 | 28.3 | 0.777 | 0.00000162 | 290 |
| Loss of Function | 0.296 | 4 | 4.69 | 0.853 | 2.71e-7 | 44 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.038 | 0.033 | notable |
| Latino/Admixed American | 0.037 | 0.028 | notable |
| Ashkenazi Jewish | 0.045 | 0.030 | notable |
| East Asian | 0.013 | 0.012 | notable |
| Finnish | 0.10 | 0.095 | notable |
| European (Non-Finnish) | 0.10 | 0.085 | notable |
| South Asian | 0.070 | 0.054 | notable |
| Other | 0.078 | 0.062 | notable |
dbNSFP Gene Annotations
Source:
Intolerance Scores
- LoFtool
- 0.779
- RVIS EVS
- 1.32
- RVIS percentile EVS
- 94.09
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.0000591
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |