PSORS1C1 (psoriasis susceptibility 1 candidate 1)

2014-11-01  

Identity

HGNC
PSORS1C1
LOCATION
6p21.33
LOCUSID
170679
ALIAS
C6orf16,SEEK1

Other Information

Locus ID:

NCBI: 170679
MIM: 613525
HGNC: 17202
Ensembl: ENSG00000204540

Variants:

dbSNP: 170679
ClinVar: 170679
TCGA: ENSG00000204540
COSMIC: PSORS1C1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000204540ENST00000259881Q9UIG5
ENSG00000204540ENST00000259881D2IYL0
ENSG00000204540ENST00000481450Q2M3K9
ENSG00000204540ENST00000547221A0A0C4DGJ2

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166120927drug reaction with eosinophilia and systemic symptomsDiseaseClinicalAnnotation, VariantAnnotationassociatedPD
PA166120929severe cutaneous adverse reactionsDiseaseClinicalAnnotationassociatedPD21801394, 29193002
PA443434Arthritis, RheumatoidDiseaseClinicalAnnotationassociatedPD
PA443622Carcinoma, Non-Small-Cell LungDiseaseClinicalAnnotationassociatedPD31616045
PA444059Epidermal Necrolysis, ToxicDiseaseClinicalAnnotationassociatedPD21801394, 29193002
PA445738Stevens-Johnson SyndromeDiseaseClinicalAnnotation, VariantAnnotationassociatedPD21801394, 29193002
PA445846ThrombocytopeniaDiseaseClinicalAnnotationassociatedPD31616045
PA448320allopurinolChemicalClinicalAnnotation, VariantAnnotationassociatedPD21801394, 29193002
PA448803carboplatinChemicalClinicalAnnotationassociatedPD31616045
PA449515etanerceptChemicalClinicalAnnotationassociatedPD
PA449748gemcitabineChemicalClinicalAnnotationassociatedPD31616045
PA450616nevirapineChemicalLiteraturenot associated24322967

References

Pubmed IDYearTitleCitations
191159492009Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02).119
198514452009High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.51
244060732014Genome-wide association study and admixture mapping identify different asthma-associated loci in Latinos: the Genes-environments & Admixture in Latino Americans study.47
228967402013Confirmation of TNIP1 but not RHOB and PSORS1C1 as systemic sclerosis risk factors in a large independent replication study.20
129303002003Polymorphisms in the SEEK1 and SPR1 genes on 6p21.3 associate with psoriasis in the Swedish population.16
189766872008Genetic variants in the HLA-G region are associated with Kawasaki disease.11
273426902016Polymorphisms in STAT-4, IL-10, PSORS1C1, PTPN2 and MIR146A genes are associated differently with prognostic factors in Italian patients affected by rheumatoid arthritis.9
157088812005Association of SEEK1 and psoriatic arthritis in two distinct Canadian populations.7
160293322005A study of PSORS1C1 gene polymorphisms in Chinese patients with psoriasis.7
237699052013PSORS1C1 may be involved in rheumatoid arthritis.7

Citation

Dessen P

PSORS1C1 (psoriasis susceptibility 1 candidate 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72359/psors1c1