Gene Page: MAD1L1

Summary ?
GeneID8379
SymbolMAD1L1
SynonymsMAD1|PIG9|TP53I9|TXBP181
DescriptionMAD1 mitotic arrest deficient-like 1 (yeast)
ReferenceMIM:602686|HGNC:HGNC:6762|Ensembl:ENSG00000002822|HPRD:04065|Vega:OTTHUMG00000151493
Gene typeprotein-coding
Map location7p22
Pascal p-value5.049E-11
Fetal beta-0.594
DMG3 (# studies)

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:GWAScatGenome-wide Association StudiesThis data set includes 560 SNPs associated with schizophrenia. A total of 486 genes were mapped to these SNPs within 50kb.
CV:GWASdbGenome-wide Association StudiesGWASdb records for schizophrenia
CV:PGC128Genome-wide Association StudyA multi-stage schizophrenia GWAS of up to 36,989 cases and 113,075 controls. Reported by the Schizophrenia Working Group of PGC. 128 independent associations spanning 108 loci
CV:PGCnpGenome-wide Association StudyGWAS
CV:Ripke_2013Genome-wide Association StudyMulti-stage GWAS, Sweden population and PGC2. 24 leading SNPs
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. 4
DMG:Montano_2016Genome-wide DNA methylation analysisThis dataset includes 172 replicated associations between CpGs with schizophrenia. 4
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). 4
LK:YESGenome-wide Association StudyThis data set included 99 genes mapped to the 22 regions. The 24 leading SNPs were also included in CV:Ripke_2013
PMID:cooccurHigh-throughput literature-searchSystematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophrenic,schizophreniasClick to show details

Section I. Genetics and epigenetics annotation

@CV:PGC128

SNP IDChromosomePositionAllelePFunctionGeneUp/Down Distance

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg2532344472111060MAD1L11.07E-60.0110.016DMG:Montano_2016
cg2399716871984831MAD1L18.11E-50.3230.026DMG:Wockner_2014
cg0439549872017437MAD1L12.208E-40.4650.036DMG:Wockner_2014
cg2093555372272059MAD1L17.53E-9-0.0153.72E-6DMG:Jaffe_2016


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.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
GenePearson's Correlation Spearman's Correlation
RBM50.910.92
ZC3H11A0.900.91
EXOSC100.900.90
SFRS140.890.91
ZNF5090.890.90
WDR590.890.89
INTS30.890.92
HARS20.890.89
ZNF8620.880.89
TCERG10.880.91
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
AF347015.31-0.75-0.82
MT-CO2-0.74-0.81
AF347015.27-0.73-0.79
AF347015.33-0.71-0.77
IFI27-0.71-0.78
MT-CYB-0.70-0.77
AF347015.21-0.70-0.84
FXYD1-0.70-0.78
AF347015.8-0.70-0.79
HIGD1B-0.70-0.80

Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
AMOTL2LCCPangiomotin like 2Two-hybridBioGRID16189514 
FAM131CC1orf117 | FLJ36766 | RP11-5P18.9family with sequence similarity 131, member CTwo-hybridBioGRID16189514 
HDAC1DKFZp686H12203 | GON-10 | HD1 | RPD3 | RPD3L1histone deacetylase 1Affinity Capture-Western
Co-purification		BioGRID15388328 
HDAC2RPD3 | YAF1histone deacetylase 2Affinity Capture-Western
Co-purification		BioGRID15388328 
MAD1L1HsMAD1 | MAD1 | PIG9 | TP53I9 | TXBP181MAD1 mitotic arrest deficient-like 1 (yeast)Two-hybridBioGRID16189514 
MAD2L1HSMAD2 | MAD2MAD2 mitotic arrest deficient-like 1 (yeast)-HPRD11804586 
MAD2L1HSMAD2 | MAD2MAD2 mitotic arrest deficient-like 1 (yeast)MAD1L1 (Mad1) interacts with MAD2L1 (Mad2).BIND15694304 
MAD2L1HSMAD2 | MAD2MAD2 mitotic arrest deficient-like 1 (yeast)Reconstituted Complex
Two-hybrid		BioGRID10660610 |11707408 
|16189514 
MAD2L1HSMAD2 | MAD2MAD2 mitotic arrest deficient-like 1 (yeast)TXBP181 interacts with HsMAD2.BIND9546394 
NDC80HEC | HEC1 | KNTC2 | TID3 | hsNDC80NDC80 homolog, kinetochore complex component (S. cerevisiae)-HPRD12351790 
NONONMT55 | NRB54 | P54 | P54NRBnon-POU domain containing, octamer-bindingTwo-hybridBioGRID16189514 
RP4-691N24.1FLJ11792 | KIAA0980 | NLP | dJ691N24.1ninein-likeTwo-hybridBioGRID16189514 
SIN3ADKFZp434K2235 | FLJ90319 | KIAA0700SIN3 homolog A, transcription regulator (yeast)-HPRD11106735 
SIN3BKIAA0700SIN3 homolog B, transcription regulator (yeast)-HPRD11101889 |11370785 
TEX11TGC1 | TSGA3testis expressed 11Two-hybridBioGRID16189514 
TRIM29ATDC | FLJ36085tripartite motif-containing 29Two-hybridBioGRID16189514 
TUBGCP476P | FLJ14797 | GCP4tubulin, gamma complex associated protein 4Two-hybridBioGRID16189514 


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG CELL CYCLE 12884All SZGR 2.0 genes in this pathway
PID CMYB PATHWAY 8461All SZGR 2.0 genes in this pathway
REACTOME CELL CYCLE 421253All SZGR 2.0 genes in this pathway
REACTOME CELL CYCLE MITOTIC 325185All SZGR 2.0 genes in this pathway
REACTOME CELL CYCLE CHECKPOINTS 12470All SZGR 2.0 genes in this pathway
REACTOME MITOTIC M M G1 PHASES 17298All SZGR 2.0 genes in this pathway
REACTOME DNA REPLICATION 192110All SZGR 2.0 genes in this pathway
REACTOME MITOTIC PROMETAPHASE 8751All SZGR 2.0 genes in this pathway
ONKEN UVEAL MELANOMA UP 783507All SZGR 2.0 genes in this pathway
CASORELLI ACUTE PROMYELOCYTIC LEUKEMIA DN 663425All SZGR 2.0 genes in this pathway
HUTTMANN B CLL POOR SURVIVAL UP 276187All SZGR 2.0 genes in this pathway
DEURIG T CELL PROLYMPHOCYTIC LEUKEMIA UP 368234All SZGR 2.0 genes in this pathway
UDAYAKUMAR MED1 TARGETS UP 13582All SZGR 2.0 genes in this pathway
ENK UV RESPONSE KERATINOCYTE UP 530342All SZGR 2.0 genes in this pathway
LANG MYB FAMILY TARGETS 2916All SZGR 2.0 genes in this pathway
PEREZ TP53 TARGETS 1174695All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 TTD DN 8463All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 DN 855609All SZGR 2.0 genes in this pathway
SPIELMAN LYMPHOBLAST EUROPEAN VS ASIAN UP 479299All SZGR 2.0 genes in this pathway
AMIT EGF RESPONSE 480 HELA 164118All SZGR 2.0 genes in this pathway
KAUFFMANN DNA REPAIR GENES 230137All SZGR 2.0 genes in this pathway
NIKOLSKY BREAST CANCER 7P22 AMPLICON 3827All SZGR 2.0 genes in this pathway
SANSOM APC TARGETS UP 12684All SZGR 2.0 genes in this pathway
FERRANDO T ALL WITH MLL ENL FUSION UP 8767All SZGR 2.0 genes in this pathway
HOFMANN CELL LYMPHOMA DN 3929All SZGR 2.0 genes in this pathway
XU RESPONSE TO TRETINOIN DN 138All SZGR 2.0 genes in this pathway
BANDRES RESPONSE TO CARMUSTIN MGMT 48HR DN 161105All SZGR 2.0 genes in this pathway
MARSON BOUND BY FOXP3 UNSTIMULATED 1229713All SZGR 2.0 genes in this pathway
SANSOM APC TARGETS 212121All SZGR 2.0 genes in this pathway
CHENG IMPRINTED BY ESTRADIOL 11068All SZGR 2.0 genes in this pathway
WEST ADRENOCORTICAL TUMOR UP 294199All SZGR 2.0 genes in this pathway
AGUIRRE PANCREATIC CANCER COPY NUMBER UP 298174All SZGR 2.0 genes in this pathway
FERRANDO HOX11 NEIGHBORS 2313All SZGR 2.0 genes in this pathway
CHIANG LIVER CANCER SUBCLASS CTNNB1 DN 170105All SZGR 2.0 genes in this pathway
CHIANG LIVER CANCER SUBCLASS POLYSOMY7 UP 7950All SZGR 2.0 genes in this pathway
CAIRO HEPATOBLASTOMA CLASSES UP 605377All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 1HR DN 222147All SZGR 2.0 genes in this pathway
FIGUEROA AML METHYLATION CLUSTER 3 UP 17097All SZGR 2.0 genes in this pathway
FIGUEROA AML METHYLATION CLUSTER 6 UP 14081All SZGR 2.0 genes in this pathway
FIGUEROA AML METHYLATION CLUSTER 7 UP 11868All SZGR 2.0 genes in this pathway
KIM TIAL1 TARGETS 3222All SZGR 2.0 genes in this pathway
GOBERT OLIGODENDROCYTE DIFFERENTIATION UP 570339All SZGR 2.0 genes in this pathway
SERVITJA LIVER HNF1A TARGETS DN 157105All SZGR 2.0 genes in this pathway
SMIRNOV RESPONSE TO IR 6HR UP 16697All SZGR 2.0 genes in this pathway