TissGeneSummary for MAD2L1 |
Gene summary |
Basic gene information | Gene symbol | MAD2L1 |
Gene name | MAD2 mitotic arrest deficient-like 1 (yeast) | |
Synonyms | HSMAD2|MAD2 | |
Cytomap | UCSC genome browser: 4q27 | |
Type of gene | protein-coding | |
RefGenes | NM_002358.3, | |
Description | MAD2 (mitotic arrest deficient, yeast, homolog)-like 1MAD2-like protein 1mitotic arrest deficient 2-like protein 1mitotic arrest deficient, yeast, homolog-like 1mitotic spindle assembly checkpoint protein MAD2A | |
Modification date | 20141207 | |
dbXrefs | MIM : 601467 | |
HGNC : HGNC | ||
HPRD : 03274 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_MAD2L1 | |
BioGPS: 4085 | ||
Pathway | NCI Pathway Interaction Database: MAD2L1 | |
KEGG: MAD2L1 | ||
REACTOME: MAD2L1 | ||
Pathway Commons: MAD2L1 | ||
Context | iHOP: MAD2L1 | |
ligand binding site mutation search in PubMed: MAD2L1 | ||
UCL Cancer Institute: MAD2L1 | ||
Assigned class in TissGDB* | C | |
Included tissue-specific gene expression resources | TiGER,GTEx | |
Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | Bone marrowTestis | |
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | LAMLTGCT | |
Reference showing the relevant tissue of MAD2L1 | ||
Description by TissGene annotations | Cancer gene |
* Class A consists of genes with literature evidence and is part of the cTissGenes. Class B consists of only cTissGenes without additional evidence. The remaining genes belong to Class C. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO term | PubMed ID | GO:0007093 | mitotic cell cycle checkpoint | 8824189 | GO:0042177 | negative regulation of protein catabolic process | 11459825 | GO:0060564 | negative regulation of mitotic anaphase-promoting complex activity | 11459825 | GO:0007093 | mitotic cell cycle checkpoint | 8824189 | GO:0042177 | negative regulation of protein catabolic process | 11459825 | GO:0060564 | negative regulation of mitotic anaphase-promoting complex activity | 11459825 |
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TissGeneExp for MAD2L1 |
Gene expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
Gene isoform expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01) |
Gene expressions across normal tissues of GTEx data (GTEx GTEx_Analysis_v6_RNA-seq_RNA-SeQCv1.1.8_gene_rpkm.gct) - Here, we shows the matched tissue types only among our 28 cancer types. |
Different expressions across 14 cancer types with more than 10 samples between matched tumors and normals (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
- Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05) |
Cancer type | Mean(exp) in tumor | Mean(exp) in matched normal | Log2FC | P-val. | FDR |
BLCA | 0.62802249 | -1.342882773 | 1.970905263 | 3.42E-06 | 8.64E-05 |
LUAD | 0.039878025 | -2.428363354 | 2.468241379 | 9.13E-24 | 3.25E-22 |
LIHC | -0.982356457 | -3.045734457 | 2.063378 | 6.81E-16 | 2.44E-14 |
LUSC | 1.098888641 | -2.353746653 | 3.452635294 | 9.99E-37 | 2.07E-34 |
BRCA | 0.245805823 | -1.687217861 | 1.933023684 | 6.90E-39 | 1.90E-37 |
COAD | 1.61691662 | 0.174332004 | 1.442584615 | 8.47E-11 | 1.24E-09 |
STAD | 0.464243543 | -1.221525207 | 1.68576875 | 3.32E-08 | 1.19E-06 |
HNSC | 0.720185403 | -0.473449481 | 1.193634884 | 5.86E-10 | 1.02E-08 |
ESCA | 0.893888997 | -1.841629185 | 2.735518182 | 2.00E-05 | 0.001235556 |
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TissGene-miRNA for MAD2L1 |
Significantly anti-correlated miRNAs of TissGene across 28 cancer types (Gene-miRNA relations from TargetScanHuman Relsease 7.1, Conserved_Site_Context_Scores.txt.zip, 06.01.2016) (TCGA IlluminaHiSeq_miRNASeq, log2(RPM+1) data, version 2016-11-21) (TCGA IlluminaHiSeq_RNASeqV2, log2(normalized_count+1) data, version 2016-08-16) (Spearman’s Rank Correlation (p-value<0.05 and coefficient<-0.25)) |
Cancer type | miRNA id | miRNA accession | P-val. | Coeff. | # samples |
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TissGeneMut for MAD2L1 |
TissGeneSNV for MAD2L1 |
nsSNV counts per each loci. Different colors of circles represent different cancer types. Circle size denotes number of samples. (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) * Click on the image to enlarge it in a new window. |
Somatic nucleotide variants of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of mutated samples) The numbers in parentheses are numbers of samples with mutation (nsSNVs). (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) |
- nsSNVs sorted by frequency. |
AAchange | Cancer type | # samples |
p.G15R | BLCA | 1 |
p.F23L | UCEC | 1 |
p.L3R | LUAD | 1 |
p.R45* | UCEC | 1 |
p.R117I | LUAD | 1 |
p.S80L | BLCA | 1 |
p.L161W | UCEC | 1 |
p.Y77F | BRCA | 1 |
p.P172T | BRCA | 1 |
p.D205N | LUAD | 1 |
p.R182L | LUAD | 1 |
p.P202S | SKCM | 1 |
p.R133K | LUSC | 1 |
p.G27S | THYM | 1 |
p.S150L | PAAD | 1 |
p.S150X | COAD | 1 |
p.I190V | DLBC | 1 |
p.P116T | LIHC | 1 |
p.S88F | UCEC | 1 |
p.R129C | PRAD | 1 |
p.I11N | STAD | 1 |
p.V203I | KIRC | 1 |
p.R133K | BLCA | 1 |
p.S195G | LUSC | 1 |
p.E22D | HNSC | 1 |
p.C149R | PRAD | 1 |
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TissGeneCNV for MAD2L1 |
Copy number variations of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of CNV samples) (TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16) |
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TissGeneFusions for MAD2L1 |
Fusion genes including TissGene (ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01) |
Database | Src | Cancer type | Sample | Fusion gene | ORF | 5'-gene BP | 3'-gene BP |
Chimerdb3.0 | ChiTaRs | NA | U65410 | MAD2L1-FAM168B | chr4:120987922 | chr2:131809762 |
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TissGeneNet for MAD2L1 |
Co-expressed gene networks based on protein-protein interaction data (CePIN) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (PINA2 ppi data) |
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TissGeneProg for MAD2L1 |
Kaplan-Meier plots with logrank tests of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image to enlarge it in a new window. |
Kaplan-Meier plots with logrank test of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
Forest plot of Cox proportional hazard ratio (HR) and 95% CI of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
Forest plot of Cox proportional hazard ratio (HR) and 95% CI of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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TissGeneClin for MAD2L1 |
TissGeneDrug for MAD2L1 |
Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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TissGeneDisease for MAD2L1 |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C0596263 | Carcinogenesis | 12 | BeFree |
umls:C2239176 | Liver carcinoma | 7 | BeFree,LHGDN |
umls:C0006142 | Malignant neoplasm of breast | 6 | BeFree,GAD |
umls:C0024623 | Malignant neoplasm of stomach | 6 | BeFree |
umls:C0178874 | Tumor Progression | 6 | BeFree |
umls:C0699791 | Stomach Carcinoma | 6 | BeFree |
umls:C0001418 | Adenocarcinoma | 5 | BeFree |
umls:C0029925 | Ovarian Carcinoma | 4 | BeFree |
umls:C0038356 | Stomach Neoplasms | 3 | LHGDN |
umls:C0678222 | Breast Carcinoma | 3 | BeFree |
umls:C1140680 | Malignant neoplasm of ovary | 3 | BeFree |
umls:C0007131 | Non-Small Cell Lung Carcinoma | 2 | BeFree |
umls:C0007137 | Squamous cell carcinoma | 2 | BeFree |
umls:C0009402 | Colorectal Carcinoma | 2 | BeFree |
umls:C0009404 | Colorectal Neoplasms | 2 | BeFree,LHGDN |
umls:C0024121 | Lung Neoplasms | 2 | BeFree |
umls:C0029463 | Osteosarcoma | 2 | BeFree |
umls:C0242379 | Malignant neoplasm of lung | 2 | BeFree,GAD |
umls:C0546837 | Malignant neoplasm of esophagus | 2 | BeFree |
umls:C0585442 | Osteosarcoma of bone | 2 | BeFree |
umls:C0677886 | Epithelial ovarian cancer | 2 | BeFree |
umls:C0684249 | Carcinoma of lung | 2 | BeFree |
umls:C0686619 | Secondary malignant neoplasm of lymph node | 2 | BeFree |
umls:C1261473 | Sarcoma | 2 | BeFree,LHGDN |
umls:C1527249 | Colorectal Cancer | 2 | BeFree |
umls:C2931822 | Nasopharyngeal carcinoma | 2 | BeFree |
umls:C0001973 | Alcoholic Intoxication, Chronic | 1 | GAD |
umls:C0004763 | Barrett Esophagus | 1 | LHGDN |
umls:C0005684 | Malignant neoplasm of urinary bladder | 1 | BeFree |
umls:C0005695 | Bladder Neoplasm | 1 | BeFree |
umls:C0007133 | Carcinoma, Papillary | 1 | LHGDN |
umls:C0007138 | Carcinoma, Transitional Cell | 1 | BeFree |
umls:C0009324 | Ulcerative Colitis | 1 | BeFree |
umls:C0017661 | IGA Glomerulonephritis | 1 | CTD_human |
umls:C0021367 | Mammary Ductal Carcinoma | 1 | BeFree |
umls:C0023903 | Liver neoplasms | 1 | BeFree |
umls:C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
umls:C0035335 | Retinoblastoma | 1 | BeFree |
umls:C0040136 | Thyroid Neoplasm | 1 | LHGDN |
umls:C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
umls:C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | 1 | BeFree |
umls:C0376545 | Hematologic Neoplasms | 1 | BeFree |
umls:C0598766 | Leukemogenesis | 1 | BeFree |
umls:C0699790 | Colon Carcinoma | 1 | BeFree |
umls:C0699885 | Carcinoma of bladder | 1 | BeFree |
umls:C0740457 | Malignant neoplasm of kidney | 1 | BeFree |
umls:C1378703 | Renal carcinoma | 1 | BeFree |
umls:C1458155 | Mammary Neoplasms | 1 | BeFree |
umls:C1527349 | Ductal Breast Carcinoma | 1 | BeFree |
umls:C1561955 | Fibrinogen Adverse Event | 1 | GAD |
umls:C2145472 | Urothelial Carcinoma | 1 | BeFree |