Gene Page: MDC1

Summary ?
GeneID9656
SymbolMDC1
SynonymsNFBD1
Descriptionmediator of DNA damage checkpoint 1
ReferenceMIM:607593|HGNC:HGNC:21163|Ensembl:ENSG00000137337|HPRD:16252|Vega:OTTHUMG00000031075
Gene typeprotein-coding
Map location6p21.3
Pascal p-value4.552E-14
Sherlock p-value0.902
DMG2 (# studies)
eGeneMyers' cis & trans

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DMG:Jaffe_2016Genome-wide DNA methylation analysisThis dataset includes 2,104 probes/CpGs associated with SZ patients (n=108) compared to 136 controls at Bonferroni-adjusted P < 0.05. 2
DMG:Wockner_2014Genome-wide DNA methylation analysisThis dataset includes 4641 differentially methylated probes corresponding to 2929 unique genes between schizophrenia patients (n=24) and controls (n=24). 2
GSMA_IGenome scan meta-analysisPsr: 0.033 

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg24700494630684284MDC11.396E-40.2780.031DMG:Wockner_2014
cg05546064630685074MDC18.55E-9-0.0093.98E-6DMG:Jaffe_2016

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs10035168chr55974295MDC196560.13trans

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.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0005515protein bindingIPI12607005 |17525332 |18001824 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0006281DNA repairIEA-
GO:0007049cell cycleIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005856cytoskeletonIDA18029348 
GO:0005622intracellularIEA-
GO:0005634nucleusIDA15604234 
GO:0005654nucleoplasmEXP12556884 |12607003 
GO:0005925focal adhesionIDA18029348 

Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
ATMAT1 | ATA | ATC | ATD | ATDC | ATE | DKFZp781A0353 | MGC74674 | TEL1 | TELO1ataxia telangiectasia mutated-HPRD12607005 
ATMAT1 | ATA | ATC | ATD | ATDC | ATE | DKFZp781A0353 | MGC74674 | TEL1 | TELO1ataxia telangiectasia mutatedAffinity Capture-WesternBioGRID14519663 
BRCA1BRCAI | BRCC1 | IRIS | PSCP | RNF53breast cancer 1, early onset-HPRD12607005 
BRCA1BRCAI | BRCC1 | IRIS | PSCP | RNF53breast cancer 1, early onsetAffinity Capture-WesternBioGRID17525332 
CENPC1CENP-C | CENPC | MIF2 | hcp-4centromere protein C 1Protein-peptideBioGRID14578343 
CHEK2CDS1 | CHK2 | HuCds1 | LFS2 | PP1425 | RAD53CHK2 checkpoint homolog (S. pombe)-HPRD,BioGRID12551934 |12607004 
GATA4MGC126629GATA binding protein 4Protein-peptideBioGRID14578343 
H2AFXH2A.X | H2A/X | H2AXH2A histone family, member X-HPRD,BioGRID12607005 |14519663 
HDAC10DKFZp761B039 | MGC149722histone deacetylase 10Protein-peptideBioGRID14578343 
HDAC8HDACL1 | RPD3histone deacetylase 8Protein-peptideBioGRID14578343 
MDM2HDMX | MGC71221 | hdm2Mdm2 p53 binding protein homolog (mouse)Protein-peptideBioGRID14578343 
MRE11AATLD | HNGS1 | MRE11 | MRE11BMRE11 meiotic recombination 11 homolog A (S. cerevisiae)Affinity Capture-MS
Affinity Capture-Western		BioGRID14519663 
NBNAT-V1 | AT-V2 | ATV | FLJ10155 | MGC87362 | NBS | NBS1 | P95nibrin-HPRD,BioGRID12607003 |12607005 
|14519663 
POLR2AMGC75453 | POLR2 | POLRA | RPB1 | RPBh1 | RPO2 | RPOL2 | RpIILS | hRPB220 | hsRPB1polymerase (RNA) II (DNA directed) polypeptide A, 220kDaProtein-peptideBioGRID14578343 
RAD50RAD50-2 | hRad50RAD50 homolog (S. cerevisiae)Affinity Capture-WesternBioGRID14519663 
SMC1ACDLS2 | DKFZp686L19178 | DXS423E | KIAA0178 | MGC138332 | SB1.8 | SMC1 | SMC1L1 | SMC1alpha | SMCBstructural maintenance of chromosomes 1A-HPRD12607005 
TP53FLJ92943 | LFS1 | TRP53 | p53tumor protein p53-HPRD,BioGRID14519663 
TP53BP153BP1 | FLJ41424 | MGC138366 | p202tumor protein p53 binding protein 1-HPRD12607005 
WRNDKFZp686C2056 | RECQ3 | RECQL2 | RECQL3Werner syndromeProtein-peptideBioGRID14578343 


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
PID ATM PATHWAY 3425All SZGR 2.0 genes in this pathway
REACTOME HOMOLOGOUS RECOMBINATION REPAIR OF REPLICATION INDEPENDENT DOUBLE STRAND BREAKS 1711All SZGR 2.0 genes in this pathway
REACTOME DOUBLE STRAND BREAK REPAIR 2414All SZGR 2.0 genes in this pathway
REACTOME DNA REPAIR 11259All SZGR 2.0 genes in this pathway
DAVICIONI MOLECULAR ARMS VS ERMS UP 332228All SZGR 2.0 genes in this pathway
BASAKI YBX1 TARGETS UP 290177All SZGR 2.0 genes in this pathway
KINSEY TARGETS OF EWSR1 FLII FUSION UP 1278748All SZGR 2.0 genes in this pathway
LINDGREN BLADDER CANCER CLUSTER 3 UP 329196All SZGR 2.0 genes in this pathway
MISSIAGLIA REGULATED BY METHYLATION DN 12267All SZGR 2.0 genes in this pathway
MOHANKUMAR TLX1 TARGETS UP 414287All SZGR 2.0 genes in this pathway
PUJANA BREAST CANCER LIT INT NETWORK 10173All SZGR 2.0 genes in this pathway
NUYTTEN EZH2 TARGETS DN 1024594All SZGR 2.0 genes in this pathway
BENPORATH SOX2 TARGETS 734436All SZGR 2.0 genes in this pathway
BENPORATH CYCLING GENES 648385All SZGR 2.0 genes in this pathway
GEORGES TARGETS OF MIR192 AND MIR215 893528All SZGR 2.0 genes in this pathway
COLLIS PRKDC REGULATORS 1510All SZGR 2.0 genes in this pathway
ASTON MAJOR DEPRESSIVE DISORDER DN 160110All SZGR 2.0 genes in this pathway
CROMER METASTASIS UP 7946All SZGR 2.0 genes in this pathway
KAYO AGING MUSCLE UP 244165All SZGR 2.0 genes in this pathway
DAZARD RESPONSE TO UV NHEK DN 318220All SZGR 2.0 genes in this pathway
WANG CISPLATIN RESPONSE AND XPC UP 202115All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 6HR DN 160101All SZGR 2.0 genes in this pathway
MARSON BOUND BY E2F4 UNSTIMULATED 728415All SZGR 2.0 genes in this pathway
ACEVEDO LIVER CANCER UP 973570All SZGR 2.0 genes in this pathway
ACEVEDO LIVER TUMOR VS NORMAL ADJACENT TISSUE UP 863514All SZGR 2.0 genes in this pathway
SMID BREAST CANCER RELAPSE IN BONE DN 315197All SZGR 2.0 genes in this pathway
SMID BREAST CANCER BASAL UP 648398All SZGR 2.0 genes in this pathway
CHUNG BLISTER CYTOTOXICITY UP 13484All SZGR 2.0 genes in this pathway
GRADE COLON AND RECTAL CANCER UP 285167All SZGR 2.0 genes in this pathway
HAN SATB1 TARGETS UP 395249All SZGR 2.0 genes in this pathway
WHITFIELD CELL CYCLE G2 M 216124All SZGR 2.0 genes in this pathway
JOHNSTONE PARVB TARGETS 2 DN 336211All SZGR 2.0 genes in this pathway
KOINUMA TARGETS OF SMAD2 OR SMAD3 824528All SZGR 2.0 genes in this pathway
GOBERT OLIGODENDROCYTE DIFFERENTIATION UP 570339All SZGR 2.0 genes in this pathway
ZHOU CELL CYCLE GENES IN IR RESPONSE 24HR 12873All SZGR 2.0 genes in this pathway