TissGeneSummary for SIM1 |
Gene summary |
Basic gene information | Gene symbol | SIM1 |
Gene name | single-minded family bHLH transcription factor 1 | |
Synonyms | bHLHe14 | |
Cytomap | UCSC genome browser: 6q16.3 | |
Type of gene | protein-coding | |
RefGenes | NM_005068.2, | |
Description | class E basic helix-loop-helix protein 14single-minded homolog 1 | |
Modification date | 20141207 | |
dbXrefs | MIM : 603128 | |
HGNC : HGNC | ||
Ensembl : ENSG00000112246 | ||
HPRD : 07049 | ||
Vega : OTTHUMG00000015275 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_SIM1 | |
BioGPS: 6492 | ||
Pathway | NCI Pathway Interaction Database: SIM1 | |
KEGG: SIM1 | ||
REACTOME: SIM1 | ||
Pathway Commons: SIM1 | ||
Context | iHOP: SIM1 | |
ligand binding site mutation search in PubMed: SIM1 | ||
UCL Cancer Institute: SIM1 | ||
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) | KidneyPancreas | |
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | KIRC,KIRP,KICHPAAD | |
Reference showing the relevant tissue of SIM1 | ||
Description by TissGene annotations | Risk TissGene in RFS TissgsKTS CNV lost TissGeneKTS |
* 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 |
Top |
TissGeneExp for SIM1 |
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 |
KIRP | 4.010862634 | 6.407075134 | -2.3962125 | 1.04E-05 | 4.33E-05 |
KIRC | 2.308522703 | 6.96300187 | -4.654479167 | 4.43E-22 | 4.04E-21 |
BRCA | 0.512525408 | 2.097379794 | -1.584854386 | 4.94E-08 | 1.52E-07 |
PRAD | -2.461974626 | -1.233022703 | -1.228951923 | 0.00146 | 0.004475869 |
Top |
TissGene-miRNA for SIM1 |
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 |
Top |
TissGeneMut for SIM1 |
TissGeneSNV for SIM1 |
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.R425K | SKCM | 2 |
p.G638E | SKCM | 2 |
p.G303S | STAD | 2 |
p.R665C | SKCM | 2 |
p.E544K | SKCM | 2 |
p.V213M | CESC | 2 |
p.V222I | STAD | 2 |
p.S428F | SKCM | 2 |
p.H394Y | SKCM | 2 |
p.S382* | BLCA | 1 |
p.D202N | SKCM | 1 |
p.H523N | LGG | 1 |
p.W490L | KIRC | 1 |
p.R397K | SKCM | 1 |
p.H315Y | PRAD | 1 |
p.S409R | ESCA | 1 |
p.Q704R | HNSC | 1 |
p.S343F | LUSC | 1 |
p.Q748H | ESCA | 1 |
p.N626I | HNSC | 1 |
p.E224K | LUSC | 1 |
p.G113D | UCEC | 1 |
p.T481M | COAD | 1 |
p.R636T | LUSC | 1 |
p.K600I | SKCM | 1 |
p.W490* | SKCM | 1 |
p.D413N | BLCA | 1 |
p.S443R | SARC | 1 |
p.I682M | STAD | 1 |
p.E126D | COAD | 1 |
p.E399K | SKCM | 1 |
p.G179S | STAD | 1 |
p.P539R | GBM | 1 |
p.V94M | LGG | 1 |
p.E645K | SKCM | 1 |
p.A280T | GBM | 1 |
p.P257T | STAD | 1 |
p.H632R | HNSC | 1 |
p.G113S | HNSC | 1 |
p.Q152K | BRCA | 1 |
p.N697S | UCEC | 1 |
p.L592Q | BLCA | 1 |
p.S433L | HNSC | 1 |
p.S391L | PRAD | 1 |
p.S536Y | UCEC | 1 |
p.S663L | READ | 1 |
p.A236S | LUAD | 1 |
p.R296M | UCEC | 1 |
p.K190N | LIHC | 1 |
p.E560K | SKCM | 1 |
p.I156V | LUAD | 1 |
p.S391L | SKCM | 1 |
p.A517T | LGG | 1 |
p.K287N | LUSC | 1 |
p.D424N | PRAD | 1 |
p.A450V | SKCM | 1 |
p.S541L | STAD | 1 |
p.R548Q | READ | 1 |
p.N697H | SARC | 1 |
p.W490X | SKCM | 1 |
p.P352T | COAD | 1 |
p.V328I | HNSC | 1 |
p.T264N | OV | 1 |
p.E155K | SKCM | 1 |
p.E579D | OV | 1 |
p.S680L | UCEC | 1 |
p.H685Y | SKCM | 1 |
p.A494T | BRCA | 1 |
p.S31L | BLCA | 1 |
p.G475S | SKCM | 1 |
p.N580K | LUSC | 1 |
p.A587T | STAD | 1 |
p.S35L | SKCM | 1 |
p.R548Q | SKCM | 1 |
p.G370R | SKCM | 1 |
p.L745M | ESCA | 1 |
p.L175F | LUAD | 1 |
p.T412P | LUAD | 1 |
p.H738Q | LUAD | 1 |
p.E336K | READ | 1 |
p.P426R | LUAD | 1 |
p.G121R | STAD | 1 |
p.H685R | STAD | 1 |
p.W528L | BLCA | 1 |
p.V326I | STAD | 1 |
p.V76I | STAD | 1 |
p.R10Q | UCEC | 1 |
p.H527N | LUAD | 1 |
p.R521S | BLCA | 1 |
p.G187S | THYM | 1 |
p.P72L | SKCM | 1 |
p.Q748H | LUAD | 1 |
p.L285M | PRAD | 1 |
p.A169T | PAAD | 1 |
p.S319T | KIRP | 1 |
p.E62K | SKCM | 1 |
p.G59_splice | GBM | 1 |
p.G203S | UCEC | 1 |
p.S382F | SKCM | 1 |
p.V151M | UCEC | 1 |
p.P417Q | LUAD | 1 |
p.S724R | HNSC | 1 |
p.V326I | SKCM | 1 |
p.S440L | SKCM | 1 |
p.N596I | THCA | 1 |
p.S380L | HNSC | 1 |
p.M164T | COAD | 1 |
p.D431N | SKCM | 1 |
p.D590H | BLCA | 1 |
p.D424N | SKCM | 1 |
p.I104T | LIHC | 1 |
p.K576X | THYM | 1 |
p.S35L | HNSC | 1 |
p.Y103C | UCEC | 1 |
p.D590E | LUAD | 1 |
p.L298V | LUSC | 1 |
p.F739I | STAD | 1 |
p.A607V | HNSC | 1 |
p.L168F | LUAD | 1 |
p.A450V | STAD | 1 |
p.S31L | UCEC | 1 |
p.P588L | LUSC | 1 |
p.D134G | STAD | 1 |
p.S18N | UCEC | 1 |
p.W528C | LUAD | 1 |
p.A435T | GBM | 1 |
p.S31L | CESC | 1 |
p.E510K | SKCM | 1 |
p.R548X | COAD | 1 |
p.D431E | BLCA | 1 |
p.T726I | SKCM | 1 |
p.T107A | HNSC | 1 |
p.Q341H | LUSC | 1 |
p.S31L | HNSC | 1 |
p.G271C | UCEC | 1 |
p.P417S | SKCM | 1 |
p.P561H | LUAD | 1 |
p.E224K | SKCM | 1 |
p.D246G | READ | 1 |
p.I762M | SKCM | 1 |
p.R550C | SKCM | 1 |
p.P30A | STAD | 1 |
p.E118X | ACC | 1 |
p.S454L | SKCM | 1 |
p.P661L | SKCM | 1 |
p.G597E | SKCM | 1 |
p.R728S | LUAD | 1 |
p.Y295* | LUSC | 1 |
p.E224D | COAD | 1 |
p.A371V | COAD | 1 |
p.N596D | SKCM | 1 |
p.I564S | LUAD | 1 |
p.G638R | SKCM | 1 |
p.E135V | STAD | 1 |
p.C619F | UCEC | 1 |
p.P539L | SKCM | 1 |
p.A542T | HNSC | 1 |
p.S382C | BLCA | 1 |
p.V519I | READ | 1 |
p.H463Y | SKCM | 1 |
p.D431N | HNSC | 1 |
p.K379R | LGG | 1 |
p.D366N | BLCA | 1 |
p.T758P | HNSC | 1 |
p.S105L | LUAD | 1 |
p.E579* | LUSC | 1 |
p.V222I | HNSC | 1 |
p.S320F | BRCA | 1 |
p.R548* | GBM | 1 |
p.Q635H | ESCA | 1 |
p.Q611H | LUAD | 1 |
p.L60I | SARC | 1 |
p.R158H | UCEC | 1 |
p.L277R | LIHC | 1 |
p.T763A | HNSC | 1 |
p.S71N | GBM | 1 |
p.S67* | HNSC | 1 |
p.D239H | BRCA | 1 |
Top |
TissGeneCNV for SIM1 |
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) |
Top |
TissGeneFusions for SIM1 |
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 | DB024801 | BRK1-SIM1 | chr3:10168138 | chr6:100841581 | |
Chimerdb3.0 | FusionScan | LUSC | TCGA-46-6026-01A | PREP-SIM1 | In-Frame | chr6:105736632 | chr6:100868834 |
TCGAfusionPortal | PRADA | LUAD | TCGA-69-7760-01A | SIM1-ASCC3 | In-frame | Chr6:100868666 | Chr6:100988263 |
Top |
TissGeneNet for SIM1 |
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) |
Top |
TissGeneProg for SIM1 |
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. |
Top |
TissGeneClin for SIM1 |
TissGeneDrug for SIM1 |
Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
TissGeneDisease for SIM1 |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C0028754 | Obesity | 15 | BeFree,CTD_human,GAD,MGD |
umls:C0028756 | Obesity, Morbid | 7 | BeFree |
umls:C0032897 | Prader-Willi Syndrome | 3 | BeFree |
umls:C0020505 | Hyperphagia | 2 | BeFree |
umls:C0424605 | Developmental delay (disorder) | 2 | BeFree |
umls:C3809877 | PRADER-WILLI-LIKE SYNDROME | 2 | BeFree |
umls:C0020456 | Hyperglycemia | 1 | CTD_human |
umls:C0023015 | Language Disorders | 1 | BeFree |
umls:C0027627 | Neoplasm Metastasis | 1 | BeFree |
umls:C0031117 | Peripheral Neuropathy | 1 | CTD_human |
umls:C0036341 | Schizophrenia | 1 | GAD |
umls:C0333875 | High-Grade Squamous Intraepithelial Lesions | 1 | BeFree |
umls:C0497406 | Overweight | 1 | BeFree |
umls:C1302773 | Low Grade Squamous Intraepithelial Neoplasia | 1 | BeFree |
umls:C1458155 | Mammary Neoplasms | 1 | CTD_human |