TissGeneSummary for SH3TC2 |
Gene summary |
Basic gene information | Gene symbol | SH3TC2 |
Gene name | SH3 domain and tetratricopeptide repeats 2 | |
Synonyms | CMT4C|MNMN | |
Cytomap | UCSC genome browser: 5q32 | |
Type of gene | protein-coding | |
RefGenes | NM_024577.3, | |
Description | SH3 domain and tetratricopeptide repeat-containing protein 2SH3 domain and tetratricopeptide repeats-containing protein 2 | |
Modification date | 20141219 | |
dbXrefs | MIM : 608206 | |
HGNC : HGNC | ||
HPRD : 10496 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_SH3TC2 | |
BioGPS: 79628 | ||
Pathway | NCI Pathway Interaction Database: SH3TC2 | |
KEGG: SH3TC2 | ||
REACTOME: SH3TC2 | ||
Pathway Commons: SH3TC2 | ||
Context | iHOP: SH3TC2 | |
ligand binding site mutation search in PubMed: SH3TC2 | ||
UCL Cancer Institute: SH3TC2 | ||
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 SH3TC2 | ||
Description by TissGene annotations |
* 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 SH3TC2 |
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 |
KIRC | -0.001604612 | -1.16681989 | 1.165215278 | 1.38E-13 | 6.32E-13 |
COAD | 2.968032461 | 0.125801692 | 2.842230769 | 2.61E-10 | 3.31E-09 |
BRCA | -0.149425299 | 1.912353648 | -2.061778947 | 8.09E-35 | 1.51E-33 |
STAD | 1.204453374 | -0.104927876 | 1.30938125 | 0.00331 | 0.013836784 |
KIRP | -0.294012251 | -1.384977876 | 1.090965625 | 0.00369 | 0.008934104 |
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TissGene-miRNA for SH3TC2 |
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 SH3TC2 |
TissGeneSNV for SH3TC2 |
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.S566F | SKCM | 2 |
p.G353X | LIHC | 2 |
p.V1212L | KIRP | 1 |
p.R346K | BLCA | 1 |
p.P1270S | SKCM | 1 |
p.P1270L | SKCM | 1 |
p.Q175L | LUAD | 1 |
p.C760Y | COAD | 1 |
p.R76S | LUAD | 1 |
p.T380N | LUAD | 1 |
p.Q385H | UCEC | 1 |
p.G278D | LUAD | 1 |
p.N1015S | LIHC | 1 |
p.R605C | READ | 1 |
p.L679P | SKCM | 1 |
p.L95H | PAAD | 1 |
p.T1157R | LUAD | 1 |
p.H1228N | ESCA | 1 |
p.E345D | LUSC | 1 |
p.S426N | SKCM | 1 |
p.N864K | COAD | 1 |
p.W79S | HNSC | 1 |
p.G255V | LUAD | 1 |
p.Y1233* | UCEC | 1 |
p.E166K | SKCM | 1 |
p.A211S | LUAD | 1 |
p.E359D | STAD | 1 |
p.L1086P | STAD | 1 |
p.R904X | STAD | 1 |
p.R77W | HNSC | 1 |
p.G644W | UCS | 1 |
p.L1115S | STAD | 1 |
p.E430D | LIHC | 1 |
p.Y1208* | STAD | 1 |
p.G1160* | UCEC | 1 |
p.E296D | UCEC | 1 |
p.A701V | PAAD | 1 |
p.P450S | LUAD | 1 |
p.L530V | LUAD | 1 |
p.R641H | STAD | 1 |
p.S312L | UCEC | 1 |
p.T563S | LIHC | 1 |
p.Q683L | LIHC | 1 |
p.L541R | PAAD | 1 |
p.A691V | PRAD | 1 |
p.F641I | HNSC | 1 |
p.Q1136L | LIHC | 1 |
p.E592D | STAD | 1 |
p.E1064D | OV | 1 |
p.E87G | ESCA | 1 |
p.K519N | UCEC | 1 |
p.L77V | LUAD | 1 |
p.F489L | UCEC | 1 |
p.L513F | LUAD | 1 |
p.H1054R | UCEC | 1 |
p.A362T | SKCM | 1 |
p.R205H | ESCA | 1 |
p.L1037P | UCEC | 1 |
p.A862D | ACC | 1 |
p.R377Q | UCEC | 1 |
p.G299S | UCEC | 1 |
p.S342F | SKCM | 1 |
p.G916E | SKCM | 1 |
p.R1099S | KIRC | 1 |
p.R1127Q | DLBC | 1 |
p.K248N | UCEC | 1 |
p.L735F | KIRP | 1 |
p.G353* | LIHC | 1 |
p.D1251N | SKCM | 1 |
p.C32R | STAD | 1 |
p.Q1250L | LUAD | 1 |
p.G1097W | UCS | 1 |
p.R658H | ESCA | 1 |
p.S62F | BRCA | 1 |
p.D35A | MESO | 1 |
p.T704R | LUAD | 1 |
p.P522S | LUAD | 1 |
p.G129V | CESC | 1 |
p.Q1223K | LUAD | 1 |
p.R89C | COAD | 1 |
p.Q329H | LUAD | 1 |
p.G211R | SKCM | 1 |
p.E593G | LIHC | 1 |
p.Q306* | BRCA | 1 |
p.T1098N | SKCM | 1 |
p.I1027T | STAD | 1 |
p.R61H | BRCA | 1 |
p.L110P | STAD | 1 |
p.L994R | PAAD | 1 |
p.T1252I | SKCM | 1 |
p.S55C | GBM | 1 |
p.T263A | STAD | 1 |
p.I574M | BLCA | 1 |
p.Y806H | LIHC | 1 |
p.S522G | UCEC | 1 |
p.W987X | STAD | 1 |
p.G299S | GBM | 1 |
p.C894Y | LUAD | 1 |
p.L1067Q | LUAD | 1 |
p.D437E | GBM | 1 |
p.K284R | PRAD | 1 |
p.Q93H | LUAD | 1 |
p.C1188F | HNSC | 1 |
p.H778N | COAD | 1 |
p.K913N | KIRC | 1 |
p.F1094I | HNSC | 1 |
p.T1016A | STAD | 1 |
p.R89C | LUAD | 1 |
p.S132F | SKCM | 1 |
p.R904* | STAD | 1 |
p.D327Y | COAD | 1 |
p.P272S | SKCM | 1 |
p.R658H | LIHC | 1 |
p.Q867* | CESC | 1 |
p.R336K | LGG | 1 |
p.E359Q | LUAD | 1 |
p.T645N | SKCM | 1 |
p.M492I | HNSC | 1 |
p.E155K | PAAD | 1 |
p.L146I | READ | 1 |
p.A569V | COAD | 1 |
p.E1045V | OV | 1 |
p.Y1208X | STAD | 1 |
p.E635K | HNSC | 1 |
p.V1167A | HNSC | 1 |
p.L614Q | LUAD | 1 |
p.T1016S | LIHC | 1 |
p.W987* | STAD | 1 |
p.M492K | LUAD | 1 |
p.L370Q | LUAD | 1 |
p.K855R | LIHC | 1 |
p.A238V | PRAD | 1 |
p.P847Q | LUAD | 1 |
p.R205H | LIHC | 1 |
p.S301I | HNSC | 1 |
p.L816S | STAD | 1 |
p.G664R | SKCM | 1 |
p.A409D | ACC | 1 |
p.P387S | SKCM | 1 |
p.R753W | UCEC | 1 |
p.K460N | KIRC | 1 |
p.S795F | SKCM | 1 |
p.S186F | SKCM | 1 |
p.R1109Q | UCEC | 1 |
p.E1045D | STAD | 1 |
p.R1012Q | LAML | 1 |
p.T224I | KIRP | 1 |
p.Q46H | UCEC | 1 |
p.D583N | SKCM | 1 |
p.L1132P | SKCM | 1 |
p.P1203S | SKCM | 1 |
p.H196R | LGG | 1 |
p.R369H | COAD | 1 |
p.L713I | ESCA | 1 |
p.E451K | CESC | 1 |
p.P237L | COAD | 1 |
p.F179I | LUAD | 1 |
p.P241L | SKCM | 1 |
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TissGeneCNV for SH3TC2 |
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 SH3TC2 |
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 | AV726151 | SH3TC2-SH3TC2 | chr5:148250111 | chr5:148248823 | |
Chimerdb3.0 | ChiTaRs | NA | AJ413271 | SH3TC2-SH3TC2 | chr5:148230794 | chr5:148214469 |
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TissGeneNet for SH3TC2 |
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 SH3TC2 |
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 SH3TC2 |
TissGeneDrug for SH3TC2 |
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 SH3TC2 |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C0007959 | Charcot-Marie-Tooth Disease | 13 | BeFree,CLINVAR |
umls:C1866636 | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C | 7 | BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT |
umls:C0442874 | Neuropathy | 6 | BeFree |
umls:C0598589 | Inherited neuropathies | 3 | BeFree |
umls:C0036439 | Scoliosis, unspecified | 2 | BeFree |
umls:C0559260 | Congenital scoliosis | 2 | BeFree |
umls:C0700208 | Acquired scoliosis | 2 | BeFree |
umls:C0004352 | Autistic Disorder | 1 | BeFree |
umls:C0040336 | Tobacco Use Disorder | 1 | GAD |
umls:C0270922 | Peripheral demyelinating neuropathy | 1 | BeFree |
umls:C0270933 | Inflammatory neuropathy | 1 | BeFree |
umls:C0740302 | 5q-syndrome | 1 | BeFree |
umls:C1292779 | Myelodysplastic Syndrome with Isolated del(5q) | 1 | BeFree |
umls:C1802398 | Chromosome 5, trisomy 5q | 1 | BeFree |
umls:C3150596 | MONONEUROPATHY OF THE MEDIAN NERVE, MILD | 1 | CLINVAR,CTD_human,UNIPROT |