TissGeneSummary for SIM2 |
Gene summary |
Basic gene information | Gene symbol | SIM2 |
Gene name | single-minded family bHLH transcription factor 2 | |
Synonyms | HMC13F06|HMC29C01|SIM|bHLHe15 | |
Cytomap | UCSC genome browser: 21q22.13 | |
Type of gene | protein-coding | |
RefGenes | NM_005069.4, NM_009586.3, | |
Description | class E basic helix-loop-helix protein 15single-minded homolog 2transcription factor SIM2 | |
Modification date | 20141207 | |
dbXrefs | MIM : 600892 | |
HGNC : HGNC | ||
Ensembl : ENSG00000159263 | ||
HPRD : 02935 | ||
Vega : OTTHUMG00000086637 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_SIM2 | |
BioGPS: 6493 | ||
Pathway | NCI Pathway Interaction Database: SIM2 | |
KEGG: SIM2 | ||
REACTOME: SIM2 | ||
Pathway Commons: SIM2 | ||
Context | iHOP: SIM2 | |
ligand binding site mutation search in PubMed: SIM2 | ||
UCL Cancer Institute: SIM2 | ||
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) | ColonKidneyOvary | |
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | COADKIRC,KIRP,KICHOV | |
Reference showing the relevant tissue of SIM2 | ||
Description by TissGene annotations | Risk TissGene in OS |
* 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 |
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TissGeneExp for SIM2 |
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 |
BRCA | -0.556166834 | -1.589218589 | 1.033051754 | 2.74E-08 | 8.67E-08 |
KIRP | -1.605512668 | 2.261959207 | -3.867471875 | 2.20E-14 | 5.36E-13 |
HNSC | -1.088075749 | 0.841221925 | -1.929297674 | 5.37E-06 | 3.29E-05 |
KIRC | -2.229779334 | 2.204623443 | -4.434402778 | 6.44E-43 | 3.28E-41 |
KICH | -3.366458168 | 2.874969832 | -6.241428 | 1.09E-15 | 2.58E-14 |
LUSC | -0.329728599 | -2.402840364 | 2.073111765 | 5.96E-12 | 2.55E-11 |
PRAD | 3.847470986 | 0.614565217 | 3.232905769 | 7.55E-18 | 2.11E-15 |
COAD | 0.874819063 | -2.901411706 | 3.776230769 | 1.31E-16 | 1.30E-14 |
BLCA | 1.098791937 | -1.140623852 | 2.239415789 | 2.31E-07 | 1.07E-05 |
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TissGene-miRNA for SIM2 |
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 SIM2 |
TissGeneSNV for SIM2 |
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.H276Y | SKCM | 2 |
p.A63V | COAD | 2 |
p.G113C | KIRP | 1 |
p.S503Y | CESC | 1 |
p.D273N | SKCM | 1 |
p.F234L | BLCA | 1 |
p.F232L | BLCA | 1 |
p.K368N | CESC | 1 |
p.R318H | CHOL | 1 |
p.V313A | LUAD | 1 |
p.F160L | LUAD | 1 |
p.G487R | SKCM | 1 |
p.F91I | KIRC | 1 |
p.D134N | LUAD | 1 |
p.R544Q | COAD | 1 |
p.R163* | BRCA | 1 |
p.F394S | LIHC | 1 |
p.A485V | LUAD | 1 |
p.Y194H | SKCM | 1 |
p.S237G | PRAD | 1 |
p.S109F | BLCA | 1 |
p.L240P | LIHC | 1 |
p.A40V | LUSC | 1 |
p.Q308H | HNSC | 1 |
p.T223I | SKCM | 1 |
p.N384S | SKCM | 1 |
p.A8V | DLBC | 1 |
p.R163* | UCEC | 1 |
p.Q215R | LIHC | 1 |
p.A212V | COAD | 1 |
p.R171G | LUAD | 1 |
p.L369S | KIRP | 1 |
p.S159* | LUAD | 1 |
p.A221T | STAD | 1 |
p.H267Y | SKCM | 1 |
p.D202N | ACC | 1 |
p.L340F | UVM | 1 |
p.P512Q | ESCA | 1 |
p.R158M | LGG | 1 |
p.S343Y | LUAD | 1 |
p.A9T | BLCA | 1 |
p.R318H | STAD | 1 |
p.E262K | SKCM | 1 |
p.T120M | GBM | 1 |
p.S355F | LUSC | 1 |
p.W304C | SKCM | 1 |
p.M198L | OV | 1 |
p.V76I | HNSC | 1 |
p.K190N | UCEC | 1 |
p.S5C | HNSC | 1 |
p.M164I | SKCM | 1 |
p.D246N | SKCM | 1 |
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TissGeneCNV for SIM2 |
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 SIM2 |
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 | FusionScan | BRCA | TCGA-BH-A1EY-01A | PTTG1IP-SIM2 | In-Frame | chr21:46293416 | chr21:38081467 |
Chimerdb3.0 | FusionScan | ESCA | TCGA-L5-A891-01A | SIM2-MORC3 | Out-of-Frame | chr21:38103452 | chr21:37721608 |
Chimerdb3.0 | FusionScan | COAD | TCGA-A6-5656-01A | CD9-SIM2 | Out-of-Frame | chr12:6334700 | chr21:38084832 |
TCGAfusionPortal | PRADA | BRCA | TCGA-BH-A1EY-01A | PTTG1IP-SIM2 | In-frame | Chr21:46293417 | Chr21:38081468 |
TCGAfusionPortal | PRADA | LGG | TCGA-DU-6406-01A | SIM2-KCNJ6 | CDS-5UTR | Chr21:38072221 | Chr21:39213011 |
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TissGeneNet for SIM2 |
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 SIM2 |
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 SIM2 |
TissGeneDrug for SIM2 |
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 SIM2 |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C0013080 | Down Syndrome | 14 | BeFree,CTD_human,LHGDN |
umls:C1860787 | DOWN SYNDROME CRITICAL REGION | 5 | BeFree |
umls:C1956346 | Coronary Artery Disease | 4 | BeFree |
umls:C0017638 | Glioma | 3 | BeFree |
umls:C0007095 | Carcinoid Tumor | 2 | BeFree |
umls:C0009375 | Colonic Neoplasms | 2 | BeFree |
umls:C0025362 | Mental Retardation | 2 | BeFree |
umls:C0033578 | Prostatic Neoplasms | 2 | BeFree |
umls:C0272138 | Erythroblastosis | 2 | BeFree |
umls:C0280100 | Solid tumour | 2 | BeFree |
umls:C0699790 | Colon Carcinoma | 2 | BeFree |
umls:C1458155 | Mammary Neoplasms | 2 | LHGDN |
umls:C0006118 | Brain Neoplasms | 1 | BeFree |
umls:C0006142 | Malignant neoplasm of breast | 1 | BeFree |
umls:C0007102 | Malignant tumor of colon | 1 | BeFree |
umls:C0008925 | Cleft Palate | 1 | CTD_human |
umls:C0017636 | Glioblastoma | 1 | BeFree |
umls:C0020443 | Hypercholesterolemia | 1 | BeFree |
umls:C0024291 | Lymphohistiocytosis, Hemophagocytic | 1 | BeFree |
umls:C0026470 | Monoclonal Gammopathy of Undetermined Significance | 1 | BeFree |
umls:C0026764 | Multiple Myeloma | 1 | BeFree |
umls:C0036439 | Scoliosis, unspecified | 1 | GAD |
umls:C0079541 | Holoprosencephaly | 1 | BeFree |
umls:C0151786 | Muscle Weakness | 1 | CTD_human |
umls:C0235974 | Pancreatic carcinoma | 1 | BeFree |
umls:C0346647 | Malignant neoplasm of pancreas | 1 | BeFree |
umls:C0376358 | Malignant neoplasm of prostate | 1 | BeFree |
umls:C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
umls:C0600139 | Prostate carcinoma | 1 | BeFree |
umls:C0678222 | Breast Carcinoma | 1 | BeFree |
umls:C1297882 | Partial Trisomy | 1 | BeFree |
umls:C2745900 | Promyelocytic leukemia | 1 | BeFree |
umls:C2937421 | Prostatic Hyperplasia | 1 | LHGDN |
umls:C3714756 | Intellectual Disability | 1 | LHGDN |