 |
| |
| |
| |
| |
| |
| |
|
| TissGeneSummary for PITX1 |
 Gene summary |
| Basic gene information | Gene symbol | PITX1 |
| Gene name | paired-like homeodomain 1 | |
| Synonyms | BFT|CCF|LBNBG|POTX|PTX1 | |
| Cytomap | UCSC genome browser: 5q31.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_002653.4, | |
| Description | hindlimb expressed homeobox protein backfoothindlimb-expressed homeobox protein backfoothomeobox protein PITX1paired-like homeodomain transcription factor 1pituitary homeo box 1pituitary homeobox 1pituitary otx-related factor | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 602149 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000069011 | ||
| HPRD : 03688 | ||
| Vega : OTTHUMG00000149983 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_PITX1 | |
| BioGPS: 5307 | ||
| Pathway | NCI Pathway Interaction Database: PITX1 | |
| KEGG: PITX1 | ||
| REACTOME: PITX1 | ||
| Pathway Commons: PITX1 | ||
| Context | iHOP: PITX1 | |
| ligand binding site mutation search in PubMed: PITX1 | ||
| UCL Cancer Institute: PITX1 | ||
| Assigned class in TissGDB* | B | |
| Included tissue-specific gene expression resources | HPA,TiGER,GTEx | |
| Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | CervixEsophagus | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | CESCESCA | |
| Reference showing the relevant tissue of PITX1 | ||
| 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 |
| Top |
| TissGeneExp for PITX1 |
| 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 |
| COAD | 2.25180926 | 0.84694003 | 1.404869231 | 1.16E-06 | 6.47E-06 |
| BRCA | 0.936023093 | -3.097419012 | 4.033442105 | 1.58E-36 | 3.18E-35 |
| LIHC | -2.816267047 | -6.405037047 | 3.58877 | 2.05E-09 | 2.10E-08 |
| LUSC | 2.307833619 | -3.989072263 | 6.296905882 | 3.08E-31 | 1.69E-29 |
| HNSC | 4.053262302 | 5.675041371 | -1.62177907 | 1.39E-08 | 1.65E-07 |
| LUAD | -0.101693392 | -4.618376151 | 4.516682759 | 4.97E-22 | 1.30E-20 |
| KIRC | -5.081319158 | -6.220237214 | 1.138918056 | 0.000933 | 0.00176146 |
| BLCA | 1.397924848 | 3.466619584 | -2.068694737 | 0.000167 | 0.001653239 |
| KICH | -3.615061047 | -5.707905047 | 2.092844 | 0.000321 | 0.000765675 |
| Top |
| TissGene-miRNA for PITX1 |
| 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 PITX1 |
| TissGeneSNV for PITX1 |
| 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.G299A | COAD | 2 |
| p.S269W | CESC | 1 |
| p.P42A | STAD | 1 |
| p.N279K | HNSC | 1 |
| p.P207A | LIHC | 1 |
| p.S255X | THYM | 1 |
| p.V273I | STAD | 1 |
| p.V124M | LUAD | 1 |
| p.T249A | STAD | 1 |
| p.R147S | LUSC | 1 |
| p.S98G | KIRP | 1 |
| p.S204F | SKCM | 1 |
| p.A233T | UCEC | 1 |
| p.R149C | COAD | 1 |
| p.M229I | LUAD | 1 |
| p.A309T | LUAD | 1 |
| p.R93H | UCEC | 1 |
| p.S198R | SKCM | 1 |
| p.Q109R | LGG | 1 |
| p.R147C | UCEC | 1 |
| p.S209L | SKCM | 1 |
| p.G302D | SKCM | 1 |
| p.R60C | PRAD | 1 |
| p.S222Y | THYM | 1 |
| p.S255L | UCEC | 1 |
| p.V273I | OV | 1 |
| p.Y171* | LUAD | 1 |
| p.A72V | LGG | 1 |
| p.P191T | LUAD | 1 |
| Top |
| TissGeneCNV for PITX1 |
| 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 PITX1 |
| 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 | BF912850 | PITX1-SH3BGRL3 | chr5:134367990 | chr1:26607655 | |
| Chimerdb3.0 | ChiTaRs | NA | BM825172 | PITX1-PCNP | chr5:134364246 | chr3:101295269 | |
| Chimerdb3.0 | ChiTaRs | NA | AA872098 | NCF2-PITX1 | chr1:183524996 | chr5:134364275 | |
| Chimerdb3.0 | ChiTaRs | NA | BE839314 | PRKD2-PITX1 | chr19:47207863 | chr5:134364863 | |
| TCGAfusionPortal | PRADA | HNSC | TCGA-DQ-7590-01A | PITX1-P4HA2 | CDS-5UTR | Chr5:134369403 | Chr5:131554337 |
| Top |
| TissGeneNet for PITX1 |
| 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) |
| BRCA (tumor) | BRCA (normal) |
| PITX1, TP53, SMAD3, SMARCA2, EGR1, NEUROD1, IRF7, DVL3, NR5A1, RBPMS, POU1F1 (tumor) | PITX1, TP53, SMAD3, SMARCA2, EGR1, NEUROD1, IRF7, DVL3, NR5A1, RBPMS, POU1F1 (normal) |
 |  |
| COAD (tumor) | COAD (normal) |
| PITX1, TP53, SMAD3, SMARCA2, EGR1, NEUROD1, IRF7, DVL3, NR5A1, RBPMS, POU1F1 (tumor) | PITX1, TP53, SMAD3, SMARCA2, EGR1, NEUROD1, IRF7, DVL3, NR5A1, RBPMS, POU1F1 (normal) |
 |  |
| HNSC (tumor) | HNSC (normal) |
| PITX1, TP53, SMAD3, SMARCA2, EGR1, NEUROD1, IRF7, DVL3, NR5A1, RBPMS, POU1F1 (tumor) | PITX1, TP53, SMAD3, SMARCA2, EGR1, NEUROD1, IRF7, DVL3, NR5A1, RBPMS, POU1F1 (normal) |
 |  |
| KICH (tumor) | KICH (normal) |
| PITX1, TP53, SMAD3, SMARCA2, EGR1, NEUROD1, IRF7, DVL3, NR5A1, RBPMS, POU1F1 (tumor) | PITX1, TP53, SMAD3, SMARCA2, EGR1, NEUROD1, IRF7, DVL3, NR5A1, RBPMS, POU1F1 (normal) |
 |  |
| KIRC (tumor) | KIRC (normal) |
| PITX1, TP53, SMAD3, SMARCA2, EGR1, NEUROD1, IRF7, DVL3, NR5A1, RBPMS, POU1F1 (tumor) | PITX1, TP53, SMAD3, SMARCA2, EGR1, NEUROD1, IRF7, DVL3, NR5A1, RBPMS, POU1F1 (normal) |
 |  |
| KIRP (tumor) | KIRP (normal) |
| PITX1, TP53, SMAD3, SMARCA2, EGR1, NEUROD1, IRF7, DVL3, NR5A1, RBPMS, POU1F1 (tumor) | PITX1, TP53, SMAD3, SMARCA2, EGR1, NEUROD1, IRF7, DVL3, NR5A1, RBPMS, POU1F1 (normal) |
 |  |
| LIHC (tumor) | LIHC (normal) |
| PITX1, TP53, SMAD3, SMARCA2, EGR1, NEUROD1, IRF7, DVL3, NR5A1, RBPMS, POU1F1 (tumor) | PITX1, TP53, SMAD3, SMARCA2, EGR1, NEUROD1, IRF7, DVL3, NR5A1, RBPMS, POU1F1 (normal) |
 |  |
| LUAD (tumor) | LUAD (normal) |
| PITX1, TP53, SMAD3, SMARCA2, EGR1, NEUROD1, IRF7, DVL3, NR5A1, RBPMS, POU1F1 (tumor) | PITX1, TP53, SMAD3, SMARCA2, EGR1, NEUROD1, IRF7, DVL3, NR5A1, RBPMS, POU1F1 (normal) |
 |  |
| LUSC (tumor) | LUSC (normal) |
| PITX1, TP53, SMAD3, SMARCA2, EGR1, NEUROD1, IRF7, DVL3, NR5A1, RBPMS, POU1F1 (tumor) | PITX1, TP53, SMAD3, SMARCA2, EGR1, NEUROD1, IRF7, DVL3, NR5A1, RBPMS, POU1F1 (normal) |
 |  |
| PRAD (tumor) | PRAD (normal) |
| PITX1, TP53, SMAD3, SMARCA2, EGR1, NEUROD1, IRF7, DVL3, NR5A1, RBPMS, POU1F1 (tumor) | PITX1, TP53, SMAD3, SMARCA2, EGR1, NEUROD1, IRF7, DVL3, NR5A1, RBPMS, POU1F1 (normal) |
 |  |
| STAD (tumor) | STAD (normal) |
| PITX1, TP53, SMAD3, SMARCA2, EGR1, NEUROD1, IRF7, DVL3, NR5A1, RBPMS, POU1F1 (tumor) | PITX1, TP53, SMAD3, SMARCA2, EGR1, NEUROD1, IRF7, DVL3, NR5A1, RBPMS, POU1F1 (normal) |
 |  |
| THCA (tumor) | THCA (normal) |
| PITX1, TP53, SMAD3, SMARCA2, EGR1, NEUROD1, IRF7, DVL3, NR5A1, RBPMS, POU1F1 (tumor) | PITX1, TP53, SMAD3, SMARCA2, EGR1, NEUROD1, IRF7, DVL3, NR5A1, RBPMS, POU1F1 (normal) |
 |  |
| Top |
| TissGeneProg for PITX1 |
| 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 PITX1 |
| TissGeneDrug for PITX1 |
| 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 PITX1 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0032002 | Pituitary Diseases | 10 | BeFree |
| umls:C0009081 | Congenital clubfoot | 8 | BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT |
| umls:C0004114 | Astrocytoma | 6 | BeFree |
| umls:C1456246 | Bacteroides fragilis infection in conditions classified elsewhere and of unspecified site | 6 | BeFree |
| umls:C0011991 | Diarrhea | 4 | BeFree |
| umls:C0376358 | Malignant neoplasm of prostate | 3 | BeFree |
| umls:C0600139 | Prostate carcinoma | 3 | BeFree |
| umls:C0001430 | Adenoma | 2 | BeFree |
| umls:C0007134 | Renal Cell Carcinoma | 2 | BeFree |
| umls:C0009402 | Colorectal Carcinoma | 2 | BeFree |
| umls:C0029408 | Degenerative polyarthritis | 2 | BeFree |
| umls:C0238288 | Muscular Dystrophy, Facioscapulohumeral | 2 | BeFree |
| umls:C0409959 | Osteoarthritis, Knee | 2 | BeFree,LHGDN |
| umls:C0596263 | Carcinogenesis | 2 | BeFree |
| umls:C1709246 | Non-Neoplastic Disorder | 2 | BeFree |
| umls:C1861313 | Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly | 2 | BeFree,ORPHANET |
| umls:C0001175 | Acquired Immunodeficiency Syndrome | 1 | GAD |
| umls:C0001418 | Adenocarcinoma | 1 | BeFree |
| umls:C0004352 | Autistic Disorder | 1 | BeFree,CTD_human,GAD |
| umls:C0004763 | Barrett Esophagus | 1 | LHGDN |
| umls:C0006142 | Malignant neoplasm of breast | 1 | BeFree |
| umls:C0007095 | Carcinoid Tumor | 1 | BeFree |
| umls:C0009324 | Ulcerative Colitis | 1 | GAD |
| umls:C0017638 | Glioma | 1 | BeFree |
| umls:C0018552 | Hamartoma | 1 | BeFree |
| umls:C0019196 | Hepatitis C | 1 | LHGDN |
| umls:C0021400 | Influenza | 1 | BeFree |
| umls:C0025202 | melanoma | 1 | BeFree |
| umls:C0026846 | Muscular Atrophy | 1 | BeFree |
| umls:C0027819 | Neuroblastoma | 1 | BeFree |
| umls:C0032000 | Pituitary Adenoma | 1 | BeFree |
| umls:C0032019 | Pituitary Neoplasms | 1 | BeFree |
| umls:C0038356 | Stomach Neoplasms | 1 | LHGDN |
| umls:C0041341 | Tuberous Sclerosis | 1 | BeFree |
| umls:C0206762 | Limb Deformities, Congenital | 1 | BeFree |
| umls:C0240414 | Hypoplasia of muscle | 1 | BeFree |
| umls:C0242379 | Malignant neoplasm of lung | 1 | BeFree |
| umls:C0242387 | Mandibulofacial Dysostosis | 1 | BeFree |
| umls:C0264122 | Atrophy, Disuse | 1 | BeFree |
| umls:C0279628 | Adenocarcinoma Of Esophagus | 1 | BeFree |
| umls:C0334299 | Carcinoid tumor no ICD-O subtype | 1 | BeFree |
| umls:C0409952 | Idiopathic osteoarthritis | 1 | BeFree |
| umls:C0678222 | Breast Carcinoma | 1 | BeFree |
| umls:C0684249 | Carcinoma of lung | 1 | BeFree |
| umls:C0700095 | Central neuroblastoma | 1 | BeFree |
| umls:C1321313 | Astrocytic hamartoma | 1 | BeFree |
| umls:C1336708 | Testicular Germ Cell Tumor | 1 | BeFree,CTD_human,GWASCAT |
| umls:C1384584 | Generalized osteoarthritis | 1 | BeFree |
| umls:C1518296 | Neuropathogenesis | 1 | BeFree |
| umls:C1527249 | Colorectal Cancer | 1 | BeFree |
| umls:C1961099 | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 1 | BeFree |
| umls:C2239176 | Liver carcinoma | 1 | BeFree |
Copyright 2016-Present - The University of Texas Health Science Center at Houston (UTHealth) Web File Viewing | How to Report, Fraud, Waste and Abuse | State of Texas | Statewide Search | Texas Homeland Security | Site Policies |