Gene Page:MUT

Summary?
GeneID 4594
Symbol MUT
Synonyms MCM
Description methylmalonyl-CoA mutase
Reference MIM:609058|HGNC:HGNC:7526|Ensembl:ENSG00000146085|HPRD:02014|Vega:OTTHUMG00000014814
Gene type protein-coding
Map location 6p12.3
Pascal p-value 0.656
Sherlock p-value 0.703
Fetal beta -0.372
DMG 2 (# studies)
eGene Myers' cis & trans
元

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. 2
DMG:Nishioka_2013 Genome-wide DNA methylation analysis The authors investigated the methylation profiles of DNA in peripheral blood cells from 18 patients with first-episode schizophrenia (FESZ) and from 15 normal controls. 2
PMID:cooccur High-throughput literature-search Systematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
GSMA_IIE Genome scan meta-analysis (European-ancestry samples) Psr: 0.04433
Literature High-throughput literature-search 与精神分裂症Co-occurance keywords: schizophrenia,schizophrenic,schizophrenias Click to show details

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

Probe Chromosome Position Nearest gene P (dis) Beta (dis) FDR (dis) Study
cg25786862 6 49431288 MUT -0.022 0.25 DMG:Nishioka_2013
cg10568944 6 49430788 MUT 3.86E-8 -0.011 1.1E-5 DMG:Jaffe_2016

@eQTL annotation

SNP ID Chromosome Position eGene Gene Entrez ID pvalue qvalue TSS distance eQTL type
rs16849258 chr3 165317775 MUT 4594 0.04 trans
rs12891084 chr14 74247409 MUT 4594 0.16 trans

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

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:0004494 methylmalonyl-CoA mutase activity TAS 2567699
GO:0031419 cobalamin binding IEA -
GO:0046872 metal ion binding IEA -
GO:0050897 cobalt ion binding IEA -
Biological process GO term Evidence Neuro keywords PubMed ID
GO:0009791 post-embryonic development IEA -
GO:0008152 metabolic process IEA -
Cellular component GO term Evidence Neuro keywords PubMed ID
GO:0005739 mitochondrion TAS 2567699
GO:0005759 mitochondrial matrix IEA -

Section V. Pathway annotation

Pathway name Pathway size # SZGR 2.0 genes in pathway Info
KEGG VALINE LEUCINE AND ISOLEUCINE DEGRADATION 44 26 All SZGR 2.0 genes in this pathway
KEGG PROPANOATE METABOLISM 33 22 All SZGR 2.0 genes in this pathway
REACTOME MITOCHONDRIAL FATTY ACID BETA OXIDATION 14 10 All SZGR 2.0 genes in this pathway
REACTOME METABOLISM OF LIPIDS AND LIPOPROTEINS 478 302 All SZGR 2.0 genes in this pathway
REACTOME FATTY ACID TRIACYLGLYCEROL AND KETONE BODY METABOLISM 168 115 All SZGR 2.0 genes in this pathway
DAVICIONI MOLECULAR ARMS VS ERMS UP 332 228 All SZGR 2.0 genes in this pathway
DIAZ CHRONIC MEYLOGENOUS LEUKEMIA UP 1382 904 All SZGR 2.0 genes in this pathway
OSWALD HEMATOPOIETIC STEM CELL IN COLLAGEN GEL DN 275 168 All SZGR 2.0 genes in this pathway
LANDIS ERBB2 BREAST TUMORS 324 DN 149 93 All SZGR 2.0 genes in this pathway
IWANAGA E2F1 TARGETS INDUCED BY SERUM 31 19 All SZGR 2.0 genes in this pathway
NUYTTEN NIPP1 TARGETS UP 769 437 All SZGR 2.0 genes in this pathway
GOLDRATH HOMEOSTATIC PROLIFERATION 171 102 All SZGR 2.0 genes in this pathway
FLECHNER BIOPSY KIDNEY TRANSPLANT REJECTED VS OK DN 546 351 All SZGR 2.0 genes in this pathway
FLECHNER BIOPSY KIDNEY TRANSPLANT OK VS DONOR UP 555 346 All SZGR 2.0 genes in this pathway
HSIAO LIVER SPECIFIC GENES 244 154 All SZGR 2.0 genes in this pathway
RUAN RESPONSE TO TNF TROGLITAZONE DN 42 24 All SZGR 2.0 genes in this pathway
RODWELL AGING KIDNEY NO BLOOD DN 150 93 All SZGR 2.0 genes in this pathway
RUAN RESPONSE TO TNF DN 84 50 All SZGR 2.0 genes in this pathway
RODWELL AGING KIDNEY DN 145 88 All SZGR 2.0 genes in this pathway
JIANG HYPOXIA NORMAL 311 205 All SZGR 2.0 genes in this pathway
MARSON BOUND BY E2F4 UNSTIMULATED 728 415 All SZGR 2.0 genes in this pathway
STEIN ESRRA TARGETS UP 388 234 All SZGR 2.0 genes in this pathway
BONOME OVARIAN CANCER SURVIVAL SUBOPTIMAL DEBULKING 510 309 All SZGR 2.0 genes in this pathway
MOOTHA HUMAN MITODB 6 2002 429 260 All SZGR 2.0 genes in this pathway
MOOTHA MITOCHONDRIA 447 277 All SZGR 2.0 genes in this pathway
VANASSE BCL2 TARGETS DN 74 50 All SZGR 2.0 genes in this pathway
STEIN ESRRA TARGETS 535 325 All SZGR 2.0 genes in this pathway
HOSHIDA LIVER CANCER SUBCLASS S3 266 180 All SZGR 2.0 genes in this pathway
CAIRO HEPATOBLASTOMA DN 267 160 All SZGR 2.0 genes in this pathway
JOHNSTONE PARVB TARGETS 2 DN 336 211 All SZGR 2.0 genes in this pathway
BAKKER FOXO3 TARGETS DN 187 109 All SZGR 2.0 genes in this pathway