RS1 (retinoschisin 1)

2014-11-01 Affiliation

Identity

HGNC

RS1

LOCATION

Xp22.13

LOCUSID

6247

ALIAS

RS,XLRS1

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: 6247
MIM: 300839
HGNC: 10457
Ensembl: ENSG00000102104

Variants:

dbSNP: 6247
ClinVar: 6247
TCGA: ENSG00000102104
COSMIC: RS1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000102104	ENST00000379984	O15537

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

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
34645606	2023	Clinical and genetic features of retinoschisis in 120 families with RS1 mutations.	7
36402656	2023	Advances in understanding the molecular structure of retinoschisin while questions remain of biological function.	1
37317958	2023	Identification and molecular characterization of two recurrent missense mutations in the RS1 gene in two families with X-linked retinoschisis from North India.	2
37642422	2023	Vitreous Hemorrhage in Pediatric Patients With X-Linked Retinoschisis: Characteristics and Outcomes.	0
34645606	2023	Clinical and genetic features of retinoschisis in 120 families with RS1 mutations.	7
36402656	2023	Advances in understanding the molecular structure of retinoschisin while questions remain of biological function.	1
37317958	2023	Identification and molecular characterization of two recurrent missense mutations in the RS1 gene in two families with X-linked retinoschisis from North India.	2
37642422	2023	Vitreous Hemorrhage in Pediatric Patients With X-Linked Retinoschisis: Characteristics and Outcomes.	0
34624300	2022	X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 Patients.	17
35446970	2022	[Analysis of RS1 gene variant in a Chinese pedigree affected with X-linked congenital retinal splitters].	0
36227606	2022	Targeted Expression of Retinoschisin by Retinal Bipolar Cells in XLRS Promotes Resolution of Retinoschisis Cysts Sans RS1 From Photoreceptors.	3
34624300	2022	X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 Patients.	17
35446970	2022	[Analysis of RS1 gene variant in a Chinese pedigree affected with X-linked congenital retinal splitters].	0
36227606	2022	Targeted Expression of Retinoschisin by Retinal Bipolar Cells in XLRS Promotes Resolution of Retinoschisis Cysts Sans RS1 From Photoreceptors.	3
34223802	2021	Spontaneous resolution of schitic cavities in XLRS.	0

Citation

Dessen P

RS1 (retinoschisin 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72900