Summary?
GeneID 90411
Symbol MCFD2
Synonyms F5F8D|F5F8D2|LMAN1IP|SDNSF
Description multiple coagulation factor deficiency 2
Reference MIM:607788|HGNC:HGNC:18451|Ensembl:ENSG00000180398|HPRD:09693|Vega:OTTHUMG00000153100
Gene type protein-coding
Map location 2p21
Pascal p-value 0.463
DMG 1 (# studies)
eGene Anterior cingulate cortex BA24
Caudate basal ganglia
Cerebellar Hemisphere
Cerebellum
Cortex
Frontal Cortex BA9
Hippocampus
Nucleus accumbens basal ganglia
Putamen basal ganglia

Gene in Data Sources
Gene set name Method of gene set Description Info
CV:PGCnp Genome-wide Association Study GWAS
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. 1

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

Probe Chromosome Position Nearest gene P (dis) Beta (dis) FDR (dis) Study
cg14126210 2 47142867 MCFD2 -0.018 0.27 DMG:Nishioka_2013

@eQTL annotation

SNP ID Chromosome Position eGene Gene Entrez ID pvalue qvalue TSS distance eQTL type
rs11890177 2 47133055 MCFD2 ENSG00000180398.7 2.119E-11 0 10196 gtex_brain_ba24
rs35433380 2 47136950 MCFD2 ENSG00000180398.7 1.17E-10 0 6301 gtex_brain_ba24
rs62136827 2 47137167 MCFD2 ENSG00000180398.7 9.521E-7 0 6084 gtex_brain_ba24
rs34581142 2 47140612 MCFD2 ENSG00000180398.7 3.181E-8 0 2639 gtex_brain_ba24
rs199965792 2 47142958 MCFD2 ENSG00000180398.7 1.321E-6 0 293 gtex_brain_ba24
rs6544939 2 47143230 MCFD2 ENSG00000180398.7 7.902E-8 0 21 gtex_brain_ba24
rs6733548 2 47143929 MCFD2 ENSG00000180398.7 5.443E-7 0 -678 gtex_brain_ba24
rs6716381 2 47148163 MCFD2 ENSG00000180398.7 4.497E-12 0 -4912 gtex_brain_ba24
rs397872646 2 47149036 MCFD2 ENSG00000180398.7 8.709E-8 0 -5785 gtex_brain_ba24
rs397871037 2 47149693 MCFD2 ENSG00000180398.7 4.497E-12 0 -6442 gtex_brain_ba24
rs70940647 2 47150500 MCFD2 ENSG00000180398.7 1.034E-7 0 -7249 gtex_brain_ba24
rs7601491 2 47150626 MCFD2 ENSG00000180398.7 2.119E-11 0 -7375 gtex_brain_ba24
rs13384023 2 47153596 MCFD2 ENSG00000180398.7 1.075E-6 0 -10345 gtex_brain_ba24
rs55688290 2 47154113 MCFD2 ENSG00000180398.7 1.075E-6 0 -10862 gtex_brain_ba24
rs56176930 2 47155868 MCFD2 ENSG00000180398.7 1.169E-8 0 -12617 gtex_brain_ba24
rs7604228 2 47156684 MCFD2 ENSG00000180398.7 1.075E-6 0 -13433 gtex_brain_ba24
rs13398851 2 47160016 MCFD2 ENSG00000180398.7 3.275E-7 0 -16765 gtex_brain_ba24
rs13392448 2 47166410 MCFD2 ENSG00000180398.7 8.709E-8 0 -23159 gtex_brain_ba24
rs6755303 2 47169003 MCFD2 ENSG00000180398.7 8.709E-8 0 -25752 gtex_brain_ba24
rs7574514 2 47125914 MCFD2 ENSG00000180398.7 1.333E-6 0 17337 gtex_brain_putamen_basal
rs10199965 2 47128603 MCFD2 ENSG00000180398.7 1.288E-6 0 14648 gtex_brain_putamen_basal
rs28516550 2 47131909 MCFD2 ENSG00000180398.7 1.611E-6 0 11342 gtex_brain_putamen_basal
rs11890177 2 47133055 MCFD2 ENSG00000180398.7 1.03E-11 0 10196 gtex_brain_putamen_basal
rs62136823 2 47134390 MCFD2 ENSG00000180398.7 1.611E-6 0 8861 gtex_brain_putamen_basal
rs2289928 2 47134904 MCFD2 ENSG00000180398.7 1.611E-6 0 8347 gtex_brain_putamen_basal
rs2289927 2 47135246 MCFD2 ENSG00000180398.7 1.611E-6 0 8005 gtex_brain_putamen_basal
rs7565420 2 47135769 MCFD2 ENSG00000180398.7 1.557E-6 0 7482 gtex_brain_putamen_basal
rs62136825 2 47136617 MCFD2 ENSG00000180398.7 1.479E-6 0 6634 gtex_brain_putamen_basal
rs79572152 2 47136638 MCFD2 ENSG00000180398.7 1.477E-6 0 6613 gtex_brain_putamen_basal
rs35433380 2 47136950 MCFD2 ENSG00000180398.7 1.052E-10 0 6301 gtex_brain_putamen_basal
rs62136827 2 47137167 MCFD2 ENSG00000180398.7 1.446E-6 0 6084 gtex_brain_putamen_basal
rs11894319 2 47137267 MCFD2 ENSG00000180398.7 1.428E-6 0 5984 gtex_brain_putamen_basal
rs6722440 2 47137842 MCFD2 ENSG00000180398.7 1.374E-6 0 5409 gtex_brain_putamen_basal
rs10168894 2 47139018 MCFD2 ENSG00000180398.7 1.581E-6 0 4233 gtex_brain_putamen_basal
rs6758512 2 47139183 MCFD2 ENSG00000180398.7 1.284E-6 0 4068 gtex_brain_putamen_basal
rs10174894 2 47140152 MCFD2 ENSG00000180398.7 1.243E-6 0 3099 gtex_brain_putamen_basal
rs34581142 2 47140612 MCFD2 ENSG00000180398.7 1.267E-8 0 2639 gtex_brain_putamen_basal
rs6706031 2 47140978 MCFD2 ENSG00000180398.7 4.38E-7 0 2273 gtex_brain_putamen_basal
rs6544939 2 47143230 MCFD2 ENSG00000180398.7 6.259E-9 0 21 gtex_brain_putamen_basal
rs62140550 2 47143989 MCFD2 ENSG00000180398.7 1.346E-6 0 -738 gtex_brain_putamen_basal
rs13388612 2 47144203 MCFD2 ENSG00000180398.7 1.365 e-6 0 -952 gtex_brain_putamen_basal
rs6758093 2 47144862 MCFD2 ENSG00000180398.7 1.411E-6 0 -1611 gtex_brain_putamen_basal
rs6729604 2 47145002 MCFD2 ENSG00000180398.7 1.411E-6 0 -1751 gtex_brain_putamen_basal
rs6716381 2 47148163 MCFD2 ENSG00000180398.7 1.03E-11 0 -4912 gtex_brain_putamen_basal
rs397872646 2 47149036 MCFD2 ENSG00000180398.7 3.894E-7 0 -5785 gtex_brain_putamen_basal
rs397871037 2 47149693 MCFD2 ENSG00000180398.7 1.03E-11 0 -6442 gtex_brain_putamen_basal
rs70940647 2 47150500 MCFD2 ENSG00000180398.7 1.496E-8 0 -7249 gtex_brain_putamen_basal
rs7601491 2 47150626 MCFD2 ENSG00000180398.7 1.03E-11 0 -7375 gtex_brain_putamen_basal
rs13398851 2 47160016 MCFD2 ENSG00000180398.7 7.576E-8 0 -16765 gtex_brain_putamen_basal
rs13392448 2 47166410 MCFD2 ENSG00000180398.7 1.945E-8 0 -23159 gtex_brain_putamen_basal
rs6755303 2 47169003 MCFD2 ENSG00000180398.7 1.945E-8 0 -25752 gtex_brain_putamen_basal
rs9973504 2 47171955 MCFD2 ENSG00000180398.7 1.196E-6 0 -28704 gtex_brain_putamen_basal
rs5830929 2 47172873 MCFD2 ENSG00000180398.7 4.222E-9 0 -29622 gtex_brain_putamen_basal

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

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.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
Gene Pearson's Correlation Spearman's Correlation
TLN1 0.81 0.84
RXRA 0.80 0.83
FYCO1 0.79 0.84
CDH20 0.78 0.81
INPPL1 0.77 0.84
ABHD15 0.77 0.82
CDGAP 0.77 0.76
LRP4 0.76 0.85
TRIM25 0.76 0.82
KIAA1161 0.76 0.76
Top 10 negatively co-expressed genes
Gene Pearson's Correlation Spearman's Correlation
NDUFAF2 -0.50 -0.56
COMMD3 -0.48 -0.52
POLB -0.47 -0.51
FRG1 -0.45 -0.53
OCIAD2 -0.45 -0.48
COQ3 -0.45 -0.48
MED19 -0.44 -0.47
RPS3AP47 -0.44 -0.58
ZNF32 -0.44 -0.51
PPP2R3C -0.44 -0.49

Section V. Pathway annotation

Pathway name Pathway size # SZGR 2.0 genes in pathway Info
REACTOME METABOLISM OF PROTEINS 518 242 All SZGR 2.0 genes in this pathway
REACTOME POST TRANSLATIONAL PROTEIN MODIFICATION 188 116 All SZGR 2.0 genes in this pathway
REACTOME ASPARAGINE N LINKED GLYCOSYLATION 81 54 All SZGR 2.0 genes in this pathway
REACTOME TRANSPORT TO THE GOLGI AND SUBSEQUENT MODIFICATION 33 24 All SZGR 2.0 genes in this pathway
CHEMNITZ RESPONSE TO PROSTAGLANDIN E2 DN 391 222 All SZGR 2.0 genes in this pathway
ZHOU INFLAMMATORY RESPONSE LIVE DN 384 220 All SZGR 2.0 genes in this pathway
CHARAFE BREAST CANCER LUMINAL VS MESENCHYMAL DN 460 312 All SZGR 2.0 genes in this pathway
由D GRAESSMANN细胞凋亡OXORUBICIN UP 1142 669 All SZGR 2.0 genes in this pathway
SCHLOSSER SERUM RESPONSE DN 712 443 All SZGR 2.0 genes in this pathway
NUYTTEN NIPP1 TARGETS DN 848 527 All SZGR 2.0 genes in this pathway
PASQUALUCCI LYMPHOMA BY GC STAGE UP 283 177 All SZGR 2.0 genes in this pathway
SMITH TERT TARGETS UP 145 91 All SZGR 2.0 genes in this pathway
MANALO HYPOXIA DN 289 166 All SZGR 2.0 genes in this pathway
SANSOM APC TARGETS DN 366 238 All SZGR 2.0 genes in this pathway
REN ALVEOLAR RHABDOMYOSARCOMA DN 408 274 All SZGR 2.0 genes in this pathway
SESTO RESPONSE TO UV C0 107 72 All SZGR 2.0 genes in this pathway
ACEVEDO LIVER CANCER UP 973 570 All SZGR 2.0 genes in this pathway
ACEVEDO LIVER TUMOR VS NORMAL ADJACENT TISSUE UP 863 514 All SZGR 2.0 genes in this pathway
BOQUEST STEM CELL CULTURED VS FRESH UP 425 298 All SZGR 2.0 genes in this pathway
CHNG MULTIPLE MYELOMA HYPERPLOID DN 28 19 All SZGR 2.0 genes in this pathway
ELLWOOD MYC TARGETS DN 40 27 All SZGR 2.0 genes in this pathway
ZHAN LATE DIFFERENTIATION GENES UP 33 24 All SZGR 2.0 genes in this pathway
KYNG WERNER SYNDROM AND NORMAL AGING DN 225 124 All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE VIA TP53 GROUP B 549 316 All SZGR 2.0 genes in this pathway
FEVR CTNNB1 TARGETS UP 682 433 All SZGR 2.0 genes in this pathway
KOINUMA TARGETS OF SMAD2 OR SMAD3 824 528 All SZGR 2.0 genes in this pathway