Gene Page: EMSY
Summary ?
| GeneID | 56946 |
| Symbol | EMSY |
| Synonyms | C11orf30|GL002 |
| Description | EMSY, BRCA2 interacting transcriptional repressor |
| Reference | MIM:608574|HGNC:HGNC:18071|Ensembl:ENSG00000158636|HPRD:10544|Vega:OTTHUMG00000165282 |
| Gene type | protein-coding |
| Map location | 11q13.5 |
Gene in Data Sources
| Gene set name | Method of gene set | Description | Info |
|---|---|---|---|
| CV:PGCnp | Genome-wide Association Study | GWAS | |
| CV:PheWAS | Phenome-wide association studies (PheWAS) | 157 SNPs associated with schizophrenia | 0 |
Section I. Genetics and epigenetics annotation
CV:PheWAS
| SNP ID | Chromosome | Position | Allele | P | Function | Gene | Up/Down Distance |
|---|
eQTL annotation
| SNP ID | Chromosome | Position | eGene | Gene Entrez ID | pvalue | qvalue | TSS distance | eQTL type |
|---|---|---|---|---|---|---|---|---|
| rs10927968 | chr1 | 14277731 | C11orf30 | 56946 | 0.14 | trans | ||
| rs16829545 | chr2 | 151977407 | C11orf30 | 56946 | 0.13 | trans | ||
| rs16955618 | chr15 | 29937543 | C11orf30 | 56946 | 7.594E-4 | trans |
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.