Gene Page: MMAB
Summary ?
| GeneID | 326625 |
| Symbol | MMAB |
| Synonyms | ATR|CFAP23|cblB|cob |
| Description | methylmalonic aciduria (cobalamin deficiency) cblB type |
| Reference | MIM:607568|HGNC:HGNC:19331|Ensembl:ENSG00000139428|HPRD:07398|Vega:OTTHUMG00000169255 |
| Gene type | protein-coding |
| Map location | 12q24 |
| Pascal p-value | 3.078E-4 |
| Sherlock p-value | 0.181 |
| Fetal beta | -0.852 |
| DMG | 1 (# studies) |
| eGene | Cerebellar Hemisphere Cerebellum Cortex Nucleus accumbens basal ganglia Myers' cis & trans Meta |
Gene in Data Sources
| Gene set name | Method of gene set | Description | Info |
|---|---|---|---|
| CV:PGCnp | Genome-wide Association Study | GWAS | |
| DMG:Jaffe_2016 | Genome-wide DNA methylation analysis | This dataset includes 2,104 probes/CpGs associated with SZ patients (n=108) compared to 136 controls at Bonferroni-adjusted P < 0.05. | 1 |
Section I. Genetics and epigenetics annotation
Differentially methylated gene
| Probe | Chromosome | Position | Nearest gene | P (dis) | Beta (dis) | FDR (dis) | Study |
|---|---|---|---|---|---|---|---|
| cg23601127 | 12 | 110011337 | MMAB | 4.68E-8 | -0.024 | 1.27E-5 | DMG:Jaffe_2016 |
eQTL annotation
| SNP ID | Chromosome | Position | eGene | Gene Entrez ID | pvalue | qvalue | TSS distance | eQTL type |
|---|---|---|---|---|---|---|---|---|
| rs7308864 | chr12 | 109871178 | MMAB | 326625 | 0.06 | cis | ||
| rs3825393 | chr12 | 109883373 | MMAB | 326625 | 0.04 | cis | ||
| rs10774708 | chr12 | 109893155 | MMAB | 326625 | 0.03 | cis | ||
| rs2338104 | chr12 | 109895167 | MMAB | 326625 | 0.01 | cis | ||
| rs7313797 | chr12 | 109896164 | MMAB | 326625 | 0.01 | cis | ||
| rs7956536 | chr12 | 109980515 | MMAB | 326625 | 0.01 | cis | ||
| rs731178 | chr12 | 109981677 | MMAB | 326625 | 0.01 | cis | ||
| rs1075467 | chr12 | 109986934 | MMAB | 326625 | 0.01 | cis | ||
| rs877710 | chr12 | 109993975 | MMAB | 326625 | 0.03 | cis | ||
| rs9593 | chr12 | 109994869 | MMAB | 326625 | 0.01 | cis | ||
| rs888192 | chr12 | 109995096 | MMAB | 326625 | 0.01 | cis | ||
| rs10161126 | chr12 | 110042347 | MMAB | 326625 | 0.07 | cis |
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 V. Pathway annotation
| Pathway name | Pathway size | # SZGR 2.0 genes in pathway | Info |
|---|---|---|---|
| KEGG PORPHYRIN AND CHLOROPHYLL METABOLISM | 41 | 23 | All SZGR 2.0 genes in this pathway |
| GRAESSMANN APOPTOSIS BY DOXORUBICIN DN | 1781 | 1082 | All SZGR 2.0 genes in this pathway |
| DAIRKEE TERT TARGETS UP | 380 | 213 | All SZGR 2.0 genes in this pathway |
| GEORGES TARGETS OF MIR192 AND MIR215 | 893 | 528 | All SZGR 2.0 genes in this pathway |
| BILD SRC ONCOGENIC SIGNATURE | 62 | 38 | All SZGR 2.0 genes in this pathway |