Basic information

Full name
nyctalopin
Ensembl
ENSG00000188937.5
Summary
The product of this gene belongs to the small leucine-rich proteoglycan (SLRP) family of proteins. Defects in this gene are the cause of congenital stationary night blindness type 1 (CSNB1), also called X-linked congenital stationary night blindness (XLCSNB). CSNB1 is a rare inherited retinal disorder characterized by impaired scotopic vision, myopia, hyperopia, nystagmus and reduced visual acuity. The role of other SLRP proteins suggests that mutations in this gene disrupt developing retinal interconnections involving the ON-bipolar cells, leading to the visual losses seen in patients with complete CSNB. [provided by RefSeq, Oct 2008]

Protein product

  • ENST00000342595.2 Primary ENSP00000340328.2 (0 phosphosite)
  • ENST00000378220.1
Phosphosites on the primary protein product
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Tumor and normal comparison

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Signed p-values
Data type
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
RNA-0.11--2.1e-7--0.0640.990.91--0.71-
protein-----------

* P-values are from Wilcoxon rank sum test and can be clicked to show the box plots. Positive values mean higher abundance in tumor. BRCA and GBM do not have normal samples.

mRNA expression at gene level
BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC012345678log2(RSEM+1)tumornormal
Protein expression

* Mild outlier: filled circle; Extreme outlier: empty circle.

Phenotype and mutation association

Manhattan plot summarizing associations of phenotypes and mutations across all cohorts and omics data types

BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC0.00.51.01.52.02.53.03.54.04.55.05.56.00.0-0.5-1.0-1.5-2.0-2.5-3.0-3.5-4.0-4.5-5.0-5.5-6.0Pan-cancer01234567890-1-2-3-4-5-6-7-8-9proteinRNASCNVclinicalpathwaycell typegenomicmutation-log10 of P-value

* Data points of significant associations above and below the dotted lines can be hovered to show the phenotype.

Associations of the protein abundance of NYX with phenotypes and mutations

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Signed p-values
Phenotype
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
HALLMARK_REACTIVE_OXYGEN_SPECIES_PATHWAY-----------
HALLMARK_P53_PATHWAY-----------
HALLMARK_UV_RESPONSE_UP-----------
HALLMARK_UV_RESPONSE_DN-----------
cibersort: B cell naive-----------
cibersort: B cell memory-----------
cibersort: B cell plasma-----------
cibersort: T cell CD8+-----------
HALLMARK_ANGIOGENESIS-----------
HALLMARK_HEME_METABOLISM-----------
Showing 1 to 10 of 256 rows

* P-values could be from test for Spearman correlation, Wilcoxon rank sum test, Jonckheere-Terpstra trend test or Cox regression depending on the data type. P-values for individual cohorts can be clicked to show the data plots. The matrix icons in each row can be clicked to show a heatmap summary of associations across all cohorts and omics. The rows in the table can be expanded to show results from other omics.

Cis-association

Associations between omics data of NYX

BRCA0.09proteinmRNASCNVmethylationCCRCC-0.17proteinmRNASCNVmethylationCOAD0.08proteinmRNASCNVmethylationGBM0.10proteinmRNASCNVmethylationHNSCC0.10proteinmRNASCNVmethylationLSCC0.02proteinmRNASCNVmethylationLUAD0.01proteinmRNASCNVmethylationOV0.28proteinmRNASCNVmethylationPDAC-0.01proteinmRNASCNVmethylationUCEC-0.06proteinmRNASCNVmethylation

* The numbers are Spearman correlation coefficients and can be clicked to show the scatter plots. The color and size of the circles correlate with the coefficients.

Trans-association

Associations of the protein abundance of NYX and the protein abundance of other genes

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Signed p-values
Gene
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
No matching records found

* P-values are from test for Spearman correlation. P-values for individual cohorts can be clicked to show the data plots. The matrix icons in each row can be clicked to show a heatmap summary of associations across all cohorts and omics. The rows in the table can be expanded to show results from other omics.

Gene set enrichment analysis

Submit genes and the common logarithm of the p-values of their association with to WebGestalt.