Gene Page: RP1
Summary ?
GeneID | 6101 |
Symbol | RP1 |
Synonyms | DCDC4A|ORP1 |
Description | retinitis pigmentosa 1 (autosomal dominant) |
Reference | MIM:603937|HGNC:HGNC:10263|Ensembl:ENSG00000104237|HPRD:04896|Vega:OTTHUMG00000164379 |
Gene type | protein-coding |
Map location | 8q12.1 |
Pascal p-value | 0.002 |
Gene in Data Sources
Gene set name | Method of gene set | Description | Info |
---|---|---|---|
CV:PGCnp | Genome-wide Association Study | GWAS |
Section I. Genetics and epigenetics annotation
DNM table
Gene | Chromosome | Position | Ref | Alt | Transcript | AA change | Mutation type | Sift | CG46 | Trait | Study |
---|---|---|---|---|---|---|---|---|---|---|---|
RP1 | chr8 | 55538878 | T | C | NM_006269 | . | silent | Schizophrenia | DNM:Fromer_2014 |
Section II. Transcriptome annotation
General gene expression (GTEx)
Gene expression of temporal and spatial changes (BrainSpan)
Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.
Top co-expressed genes in brain regions
Top 10 positively co-expressed genes | ||
Gene | Pearson's Correlation | Spearman's Correlation |
TIMM8B | 0.73 | 0.59 |
RBX1 | 0.68 | 0.52 |
RPS10L | 0.68 | 0.53 |
AC009171.1 | 0.68 | 0.51 |
AC010468.1 | 0.68 | 0.54 |
COX7A2 | 0.67 | 0.49 |
PFDN5 | 0.67 | 0.61 |
RPL10AP3 | 0.67 | 0.45 |
MRPS28 | 0.66 | 0.49 |
NDUFB7 | 0.65 | 0.36 |
Top 10 negatively co-expressed genes | ||
Gene | Pearson's Correlation | Spearman's Correlation |
PLEC1 | -0.49 | -0.57 |
TECPR2 | -0.46 | -0.48 |
MYH9 | -0.46 | -0.48 |
AGPAT3 | -0.45 | -0.46 |
ZBTB47 | -0.44 | -0.52 |
FICD | -0.44 | -0.47 |
MAFK | -0.44 | -0.56 |
ACTN4 | -0.42 | -0.49 |
SYNM | -0.42 | -0.51 |
JAKMIP3 | -0.42 | -0.48 |
Section V. Pathway annotation
Pathway name | Pathway size | # SZGR 2.0 genes in pathway | Info |
---|---|---|---|
LIAN LIPA TARGETS 6M | 74 | 47 | All SZGR 2.0 genes in this pathway |
HARRIS HYPOXIA | 81 | 64 | All SZGR 2.0 genes in this pathway |
ZWANG TRANSIENTLY UP BY 2ND EGF PULSE ONLY | 1725 | 838 | All SZGR 2.0 genes in this pathway |