Gene Page:C2orf40
Summary?
| GeneID | 84417 |
| Symbol | C2orf40 |
| Synonyms | ECRG4 |
| Description | chromosome 2 open reading frame 40 |
| Reference | MIM:611752|HGNC:HGNC:24642|Ensembl:ENSG00000119147|HPRD:13261|Vega:OTTHUMG00000130921 |
| Gene type | protein-coding |
| Map location | 2q12.2 |
| Pascal p-value | 0.295 |
| Sherlock p-value | 8.406E-5 |
| Fetal beta | 0.246 |
| eGene | Caudate basal ganglia Cerebellum Cortex Frontal Cortex BA9 Hypothalamus Nucleus accumbens basal ganglia Putamen basal ganglia Myers' cis & trans |
Gene in Data Sources
| Gene set name | Method of gene set | Description | Info |
|---|---|---|---|
| CV:PGCnp | Genome-wide Association Study | GWAS | |
| GSMA_I | Genome scan meta-analysis | Psr: 0.0004 | |
| GSMA_IIA | Genome scan meta-analysis (All samples) | Psr: 0.00755 |
Section I. Genetics and epigenetics annotation
eQTL annotation
eQTL annotation| SNP ID | Chromosome | Position | eGene | Gene Entrez ID | pvalue | qvalue | TSS distance | eQTL type |
|---|---|---|---|---|---|---|---|---|
| rs17131472 | chr1 | 91962966 | C2orf40 | 84417 | 0.18 | trans | ||
| rs17535450 | chr2 | 39900012 | C2orf40 | 84417 | 0.09 | trans | ||
| rs2922180 | chr3 | 125280472 | C2orf40 | 84417 | 2.552E-4 | trans | ||
| rs2976809 | chr3 | 125451738 | C2orf40 | 84417 | 0 | trans | ||
| rs17005214 | chr4 | 82845432 | C2orf40 | 84417 | 0.07 | trans | ||
| rs16894149 | chr5 | 61013724 | C2orf40 | 84417 | 0.09 | trans | ||
| rs17056435 | chr5 | 158453782 | C2orf40 | 84417 | 0.12 | trans | ||
| rs283058 | chr6 | 118625224 | C2orf40 | 84417 | 0.18 | trans | ||
| rs2739708 | chr8 | 17992280 | C2orf40 | 84417 | 0.19 | trans | ||
| rs2739726 | chr8 | 17998576 | C2orf40 | 84417 | 0.13 | trans | ||
| rs2919377 | chr8 | 32573740 | C2orf40 | 84417 | 0.15 | trans | ||
| rs16908622 | chr8 | 139231604 | C2orf40 | 84417 | 0.07 | trans | ||
| rs9423711 | chr10 | 2574802 | C2orf40 | 84417 | 0.17 | trans | ||
| rs17134872 | chr11 | 76139845 | C2orf40 | 84417 | 0.09 | trans | ||
| rs11236774 | chr11 | 76234952 | C2orf40 | 84417 | 0.09 | trans | ||
| rs11112163 | chr12 | 105072508 | C2orf40 | 84417 | 0.19 | trans | ||
| rs7358856 | chr13 | 41931609 | C2orf40 | 84417 | 0.16 | trans | ||
| rs7358853 | chr13 | 41931685 | C2orf40 | 84417 | 0.19 | trans | ||
| rs4349050 | chr13 | 41958722 | C2orf40 | 84417 | 0.09 | trans | ||
| rs7982172 | chr13 | 41969697 | C2orf40 | 84417 | 0.17 | trans | ||
| rs4942043 | chr13 | 41978218 | C2orf40 | 84417 | 0.08 | trans | ||
| rs17073665 | chr13 | 81541961 | C2orf40 | 84417 | 0.16 | trans | ||
| rs8043029 | chr15 | 55486010 | C2orf40 | 84417 | 0.07 | trans | ||
| rs3809540 | chr15 | 55489411 | C2orf40 | 84417 | 0.08 | trans | ||
| rs7165491 | chr15 | 55500454 | C2orf40 | 84417 | 0.18 | trans | ||
| rs7164640 | chr15 | 80661303 | C2orf40 | 84417 | 0.18 | trans | ||
| rs11660674 | chr18 | 10202806 | C2orf40 | 84417 | 0.15 | trans | ||
| rs11873703 | chr18 | 61448702 | C2orf40 | 84417 | 2.116E-4 | trans | ||
| rs6095741 | chr20 | 48666589 | C2orf40 | 84417 | 0 | trans | ||
| rs17789442 | chr21 | 21289474 | C2orf40 | 84417 | 0.02 | trans | ||
| rs5991662 | chrX | 43335796 | C2orf40 | 84417 | 8.082E-4 | trans | ||
| rs13014521 | 2 | 106687456 | C2orf40 | ENSG00000119147.5 | 1.268E-6 | 0 | 7754 | gtex_brain_putamen_basal |
| rs66989638 | 2 | 106689736 | C2orf40 | ENSG00000119147.5 | 6.1E-7 | 0 | 10034 | gtex_brain_putamen_basal |
| rs70953557 | 2 | 106700964 | C2orf40 | ENSG00000119147.5 | 5.337E-7 | 0 | 21262 | gtex_brain_putamen_basal |
| rs12621836 | 2 | 106705747 | C2orf40 | ENSG00000119147.5 | 5.398E-7 | 0 | 26045 | gtex_brain_putamen_basal |
| rs368492979 | 2 | 106705929 | C2orf40 | ENSG00000119147.5 | 5.409E-7 | 0 | 26227 | gtex_brain_putamen_basal |
| rs13001398 | 2 | 106706640 | C2orf40 | ENSG00000119147.5 | 5.45E-7 | 0 | 26938 | gtex_brain_putamen_basal |
| rs13024076 | 2 | 106706647 | C2orf40 | ENSG00000119147.5 | 8.459E-8 | 0 | 26945 | gtex_brain_putamen_basal |
| rs3820893 | 2 | 106707977 | C2orf40 | ENSG00000119147.5 | 6.401E-7 | 0 | 28275 | gtex_brain_putamen_basal |
| rs34795949 | 2 | 106711400 | C2orf40 | ENSG00000119147.5 | 2.44E-7 | 0 | 31698 | gtex_brain_putamen_basal |
| rs13017382 | 2 | 106720110 | C2orf40 | ENSG00000119147.5 | 2.44E-7 | 0 | 40408 | gtex_brain_putamen_basal |
| rs3820892 | 2 | 106728795 | C2orf40 | ENSG00000119147.5 | 8.504E-7 | 0 | 49093 | gtex_brain_putamen_basal |
| rs12996345 | 2 | 106730576 | C2orf40 | ENSG00000119147.5 | 2.44E-7 | 0 | 50874 | gtex_brain_putamen_basal |
| rs13018816 | 2 | 106740632 | C2orf40 | ENSG00000119147.5 | 5.152E-7 | 0 | 60930 | gtex_brain_putamen_basal |
Section II. Transcriptome annotation
General gene expression (GTEx)
Gene expression during devlopment (BrainCloud)
Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.
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
死神:胎儿(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.
No co-expressed genes in brain regions
Section III. Gene Ontology annotation
| Cellular component | 去的术语 | Evidence | Neuro keywords | PubMed ID |
|---|---|---|---|---|
| GO:0005576 | extracellular region | IEA | - | |
| GO:0005634 | nucleus | IDA | 18029348 | |
| GO:0005737 | cytoplasm | IDA | 18029348 |
Section V. Pathway annotation
| Pathway name | Pathway size | # SZGR 2.0 genes in pathway | Info |
|---|---|---|---|
| LIU PROSTATE CANCER DN | 481 | 290 | All SZGR 2.0 genes in this pathway |
| SENGUPTA NASOPHARYNGEAL CARCINOMA DN | 349 | 157 | All SZGR 2.0 genes in this pathway |
| TURASHVILI BREAST DUCTAL CARCINOMA VS DUCTAL NORMAL DN | 198 | 110 | All SZGR 2.0 genes in this pathway |
| TURASHVILI BREAST DUCTAL CARCINOMA VS LOBULAR NORMAL DN | 69 | 43 | All SZGR 2.0 genes in this pathway |
| VECCHI GASTRIC CANCER EARLY DN | 367 | 220 | All SZGR 2.0 genes in this pathway |
| SABATES COLORECTAL ADENOMA DN | 291 | 176 | All SZGR 2.0 genes in this pathway |
| DODD NASOPHARYNGEAL CARCINOMA UP | 1821 | 933 | All SZGR 2.0 genes in this pathway |
| GAUSSMANN MLL AF4 FUSION TARGETS C UP | 170 | 114 | All SZGR 2.0 genes in this pathway |
| INGRAM SHH TARGETS DN | 64 | 41 | All SZGR 2.0 genes in this pathway |
| LEIN CHOROID PLEXUS MARKERS | 103 | 61 | All SZGR 2.0 genes in this pathway |
| MARTINEZ RB1 TARGETS DN | 543 | 317 | All SZGR 2.0 genes in this pathway |
| MARTINEZ TP53 TARGETS DN | 593 | 372 | All SZGR 2.0 genes in this pathway |
| MARTINEZ RB1 AND TP53 TARGETS DN | 591 | 366 | All SZGR 2.0 genes in this pathway |
| RIGGI EWING SARCOMA PROGENITOR UP | 430 | 288 | All SZGR 2.0 genes in this pathway |
| ZHENG GLIOBLASTOMA PLASTICITY UP | 250 | 168 | All SZGR 2.0 genes in this pathway |
| ZHANG TLX TARGETS 36HR UP | 221 | 150 | All SZGR 2.0 genes in this pathway |
| ZHANG TLX TARGETS 60HR UP | 293 | 203 | All SZGR 2.0 genes in this pathway |
| ZHANG TLX TARGETS UP | 108 | 78 | All SZGR 2.0 genes in this pathway |
| MIKKELSEN IPS LCP WITH H3K4ME3 | 174 | 100 | All SZGR 2.0 genes in this pathway |
| CHANDRAN METASTASIS DN | 306 | 191 | All SZGR 2.0 genes in this pathway |
| MIKKELSEN ES LCP WITH H3K4ME3 | 142 | 80 | All SZGR 2.0 genes in this pathway |
| MIKKELSEN NPC LCP WITH H3K4ME3 | 58 | 34 | All SZGR 2.0 genes in this pathway |
| STAMBOLSKY BOUND BY MUTATED TP53 | 18 | 12 | All SZGR 2.0 genes in this pathway |
| LEE BMP2 TARGETS DN | 882 | 538 | All SZGR 2.0 genes in this pathway |
| LIM MAMMARY STEM CELL UP | 489 | 314 | All SZGR 2.0 genes in this pathway |