Gene Page: CECR1
Summary ?
| GeneID | 51816 |
| Symbol | CECR1 |
| Synonyms | ADA2|ADGF|IDGFL|PAN|SNEDS |
| Description | cat eye syndrome chromosome region, candidate 1 |
| Reference | MIM:607575|HGNC:HGNC:1839|Ensembl:ENSG00000093072|HPRD:10462|Vega:OTTHUMG00000030726 |
| Gene type | protein-coding |
| Map location | 22q11.2 |
| Pascal p-value | 0.361 |
| Sherlock p-value | 0.291 |
| DEG p-value | DEG:Sanders_2014:DS1_p=-0.140:DS1_beta=0.017600:DS2_p=2.32e-01:DS2_beta=-0.053:DS2_FDR=4.84e-01 |
| Fetal beta | -0.108 |
| eGene | Caudate basal ganglia Cerebellar Hemisphere Cerebellum Cortex Frontal Cortex BA9 Hypothalamus Nucleus accumbens basal ganglia Putamen basal ganglia Meta |
Gene in Data Sources
| Gene set name | Method of gene set | Description | Info |
|---|---|---|---|
| CV:PGCnp | Genome-wide Association Study | GWAS | |
| DEG:Sanders_2013 | Microarray | Whole-genome gene expression profiles using microarrays on lymphoblastoid cell lines (LCLs) from 413 cases and 446 controls. | |
| GSMA_I | Genome scan meta-analysis | Psr: 0.031 |
Section I. Genetics and epigenetics annotation
eQTL annotation
| SNP ID | Chromosome | Position | eGene | Gene Entrez ID | pvalue | qvalue | TSS distance | eQTL type |
|---|---|---|---|---|---|---|---|---|
| rs1990227 | 22 | 17677175 | CECR1 | ENSG00000093072.11 | 7.75279E-7 | 0.02 | 25704 | gtex_brain_putamen_basal |
| rs12160609 | 22 | 17678195 | CECR1 | ENSG00000093072.11 | 7.04243E-7 | 0.02 | 24684 | gtex_brain_putamen_basal |
| rs17807317 | 22 | 17680519 | CECR1 | ENSG00000093072.11 | 9.679E-7 | 0.02 | 22360 | gtex_brain_putamen_basal |
| rs5992639 | 22 | 17680971 | CECR1 | ENSG00000093072.11 | 3.99041E-7 | 0.02 | 21908 | gtex_brain_putamen_basal |
| rs2013910 | 22 | 17685194 | CECR1 | ENSG00000093072.11 | 3.39734E-7 | 0.02 | 17685 | gtex_brain_putamen_basal |
| rs1807517 | 22 | 17685351 | CECR1 | ENSG00000093072.11 | 3.36607E-7 | 0.02 | 17528 | gtex_brain_putamen_basal |
| rs1807518 | 22 | 17685358 | CECR1 | ENSG00000093072.11 | 2.48307E-7 | 0.02 | 17521 | gtex_brain_putamen_basal |
| rs362129 | 22 | 17690409 | CECR1 | ENSG00000093072.11 | 1.90974E-6 | 0.02 | 12470 | gtex_brain_putamen_basal |
| rs5748944 | 22 | 17692032 | CECR1 | ENSG00000093072.11 | 4.83868E-7 | 0.02 | 10847 | 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
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.
No co-expressed genes in brain regions
Section III. Gene Ontology annotation
| Molecular function | GO term | Evidence | Neuro keywords | PubMed ID |
|---|---|---|---|---|
| GO:0016787 | hydrolase activity | IEA | - | |
| GO:0008083 | growth factor activity | NAS | 10756095 | |
| GO:0019239 | deaminase activity | IEA | - | |
| Biological process | GO term | Evidence | Neuro keywords | PubMed ID |
| GO:0009168 | purine ribonucleoside monophosphate biosynthetic process | IEA | - | |
| GO:0007275 | multicellular organismal development | NAS | 10756095 | |
| Cellular component | GO term | Evidence | Neuro keywords | PubMed ID |
| GO:0005794 | Golgi apparatus | IDA | 18029348 | |
| GO:0005576 | extracellular region | IEA | - | |
| GO:0005615 | extracellular space | IEA | - |
Section V. Pathway annotation
| Pathway name | Pathway size | # SZGR 2.0 genes in pathway | Info |
|---|---|---|---|
| THUM SYSTOLIC HEART FAILURE UP | 423 | 283 | All SZGR 2.0 genes in this pathway |
| CASORELLI ACUTE PROMYELOCYTIC LEUKEMIA UP | 177 | 110 | All SZGR 2.0 genes in this pathway |
| DIAZ CHRONIC MEYLOGENOUS LEUKEMIA DN | 116 | 79 | All SZGR 2.0 genes in this pathway |
| SPIELMAN LYMPHOBLAST EUROPEAN VS ASIAN DN | 584 | 395 | All SZGR 2.0 genes in this pathway |
| BENPORATH ES 1 | 379 | 235 | All SZGR 2.0 genes in this pathway |
| WIELAND UP BY HBV INFECTION | 101 | 66 | All SZGR 2.0 genes in this pathway |
| MCLACHLAN DENTAL CARIES UP | 253 | 147 | All SZGR 2.0 genes in this pathway |
| DOUGLAS BMI1 TARGETS UP | 566 | 371 | All SZGR 2.0 genes in this pathway |
| WALLACE PROSTATE CANCER RACE UP | 299 | 167 | All SZGR 2.0 genes in this pathway |
| LEE DIFFERENTIATING T LYMPHOCYTE | 200 | 115 | All SZGR 2.0 genes in this pathway |
| HOSHIDA LIVER CANCER SUBCLASS S3 | 266 | 180 | All SZGR 2.0 genes in this pathway |
| WANG RESPONSE TO GSK3 INHIBITOR SB216763 UP | 397 | 206 | All SZGR 2.0 genes in this pathway |
| ZWANG TRANSIENTLY UP BY 1ST EGF PULSE ONLY | 1839 | 928 | All SZGR 2.0 genes in this pathway |