PSORS1C1 (psoriasis susceptibility 1 candidate 1)

2014-11-01 Affiliation

Identity

HGNC

PSORS1C1

LOCATION

6p21.33

LOCUSID

170679

ALIAS

C6orf16,SEEK1

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000204540	ENST00000259881	Q9UIG5
ENSG00000204540	ENST00000259881	D2IYL0
ENSG00000204540	ENST00000481450	Q2M3K9
ENSG00000204540	ENST00000547221	A0A0C4DGJ2

Expression (GTEx)

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 ID	Name	Type	Evidence	Association	PD	PMIDs
PA166120927	drug reaction with eosinophilia and systemic symptoms	Disease	ClinicalAnnotation, VariantAnnotation	associated	PD
PA166120929	severe cutaneous adverse reactions	Disease	ClinicalAnnotation	associated	PD	21801394, 29193002
PA443434	Arthritis, Rheumatoid	Disease	ClinicalAnnotation	associated	PD
PA443622	Carcinoma, Non-Small-Cell Lung	Disease	ClinicalAnnotation	associated	PD	31616045
PA444059	Epidermal Necrolysis, Toxic	Disease	ClinicalAnnotation	associated	PD	21801394, 29193002
PA445738	Stevens-Johnson Syndrome	Disease	ClinicalAnnotation, VariantAnnotation	associated	PD	21801394, 29193002
PA445846	Thrombocytopenia	Disease	ClinicalAnnotation	associated	PD	31616045
PA448320	allopurinol	Chemical	ClinicalAnnotation, VariantAnnotation	associated	PD	21801394, 29193002
PA448803	carboplatin	Chemical	ClinicalAnnotation	associated	PD	31616045
PA449515	etanercept	Chemical	ClinicalAnnotation	associated	PD
PA449748	gemcitabine	Chemical	ClinicalAnnotation	associated	PD	31616045
PA450616	nevirapine	Chemical	Literature	not associated		24322967

References

Pubmed ID	Year	Title	Citations
34325607	2022	Psoriasis Susceptibility 1 Candidate 1 (PSORS1C1) Polymorphism is Associated with Autoimmune Thyroid Disease in a Chinese Han Population.	2
34325607	2022	Psoriasis Susceptibility 1 Candidate 1 (PSORS1C1) Polymorphism is Associated with Autoimmune Thyroid Disease in a Chinese Han Population.	2
29193002	2018	The minor alleles HCP5 rs3099844 A and PSORS1C1 rs3131003 G are associated with allopurinol-induced severe cutaneous adverse reactions in Han Chinese: a multicentre retrospective case-control clinical study.	5
29589160	2018	HLA-C*06:02-independent, gender-related association of PSORS1C3 and PSORS1C1/CDSN single-nucleotide polymorphisms with risk and severity of psoriasis.	17
29193002	2018	The minor alleles HCP5 rs3099844 A and PSORS1C1 rs3131003 G are associated with allopurinol-induced severe cutaneous adverse reactions in Han Chinese: a multicentre retrospective case-control clinical study.	5
29589160	2018	HLA-C*06:02-independent, gender-related association of PSORS1C3 and PSORS1C1/CDSN single-nucleotide polymorphisms with risk and severity of psoriasis.	17
28107378	2017	Polymorphisms in STAT4, PTPN2, PSORS1C1 and TRAF3IP2 Genes Are Associated with the Response to TNF Inhibitors in Patients with Rheumatoid Arthritis.	11
28107378	2017	Polymorphisms in STAT4, PTPN2, PSORS1C1 and TRAF3IP2 Genes Are Associated with the Response to TNF Inhibitors in Patients with Rheumatoid Arthritis.	11
27342690	2016	Polymorphisms in STAT-4, IL-10, PSORS1C1, PTPN2 and MIR146A genes are associated differently with prognostic factors in Italian patients affected by rheumatoid arthritis.	18
27342690	2016	Polymorphisms in STAT-4, IL-10, PSORS1C1, PTPN2 and MIR146A genes are associated differently with prognostic factors in Italian patients affected by rheumatoid arthritis.	18
24210685	2014	PSORS1C1/CDSN is associated with ankylosing spondylitis.	2
24406073	2014	Genome-wide association study and admixture mapping identify different asthma-associated loci in Latinos: the Genes-environments & Admixture in Latino Americans study.	66
24210685	2014	PSORS1C1/CDSN is associated with ankylosing spondylitis.	2
24406073	2014	Genome-wide association study and admixture mapping identify different asthma-associated loci in Latinos: the Genes-environments & Admixture in Latino Americans study.	66
22896740	2013	Confirmation of TNIP1 but not RHOB and PSORS1C1 as systemic sclerosis risk factors in a large independent replication study.	24

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-(psoriasis-susceptibility-1-candidate-1)