|
||||||
|
 | |
| |
| |
| |
| |
| |
| |
| |
| |
| |
| |
| |
| |
|
Gene: ENSG00000164093 |
Summary for PITX2 |
 Gene summary |
| Gene information | Ensembl ID | ENSG00000164093 | Gene symbol | PITX2 |
| Gene name | paired like homeodomain 2 | |
| HGNC | 9005 | |
| Entrez ID | 5308 | |
| Gene type | protein_coding | |
| Synonyms | PITX2|IGDS|RS|Brx1|Otlx2|ARP1 | |
| UniProtAcc | Q99697 |
| Drugs associated with this gene(DrugBank). |
| Gene ID | Gene Symbol | Drug ID | Drug Name | Drug Type |
| Cancer therapeutic drugs associated with this gene(NCI). |
| Gene ID | Gene Name | Drug ID | Drug Name | Drug Type | Cancer |
Top |
Structure and expression level for PITX2 |
| AS events and RNA A-to-I editing events of the gene in TCGA based on Genvode V22 structure. ∗For more information on exon skipping events please check the ExonskipDB database. ∗For more information on exon skipping events please check the CAeditome database. |
 |
| Landscape of gene expressions across multiple cancer types. |
 |
| Differentially expressed gene analysis between tumor male and tumor female samples. |
| Coding Name | Base Mean | log2FoldChange | lfcSE | Stat | P value | P.adjust Value | Cancer Type |
| Differentially expressed gene analysis between tumor male and normal male samples. |
 |
| Coding Name | Base Mean | log2FoldChange | lfcSE | Stat | P value | P.adjust Value | Cancer Type |
| PITX2 | 3.84e+02 | -2.59e+00 | 5.16e-01 | -5.03e+00 | 4.89e-07 | 4.11e-06 | BLCA |
| PITX2 | 6.33e+02 | 1.95e+00 | 7.16e-01 | 2.72e+00 | 6.49e-03 | 2.71e-02 | ESCA |
| Differentially expressed gene analysis between tumor female and normal female samples. |
 |
| Coding Name | Base Mean | log2FoldChange | lfcSE | Stat | P value | P.adjust Value | Cancer Type |
| PITX2 | 4.67e+02 | 4.75e+00 | 4.26e-01 | 1.11e+01 | 7.34e-29 | 8.44e-26 | READ |
Top |
Sex-biased somatic mutation for PITX2 |
| ∗For more information on exon skipping events please check the ExonskipDB database. |
| Gene ID | Cancer Type | Hugo Symbol | Male | Female | pval | or | ci.up | ci.low | adjPval |
Top |
DNA methylation with beta values for PITX2 |
| Landscape of DNA methylation across multiple cancer types. |
 |
| Differentially expressed CpG sites between male tumor and female tumor patients. |
| Cancer Type | CpG Site | Position | CpG Island | Position to Gene | ave1 | ave2 | wilcoxon.w | wilcoxon.p | padj | dBeta |
| Differentially expressed CpG sites between male tumor and male normal patients. |
| Cancer Type | CpG Site | Position | CpG Island | Position to Gene | ave1 | ave2 | wilcoxon.w | wilcoxon.p | padj | dBeta |
| KIRC | cg16933229 | chr4:110640196 | CGI:chr4:110639407-110639652 | promoter,gene body | 2.65e-01 | 1.50e-01 | 4.74e+00 | 2.09e-06 | 6.90e-06 | 1.15e-01 |
| KIRC | cg03133735 | chr4:110641114 | CGI:chr4:110639407-110639652 | promoter,gene body | 4.27e-01 | 3.19e-01 | 2.98e+00 | 2.87e-03 | 3.95e-03 | 1.08e-01 |
| LUAD | cg16933229 | chr4:110640196 | CGI:chr4:110639407-110639652 | promoter,gene body | 5.76e-01 | 1.91e-01 | 3.75e+00 | 1.77e-04 | 4.53e-04 | 3.85e-01 |
| HNSC | cg27183679 | chr4:110641389 | CGI:chr4:110639407-110639652 | promoter,gene body | 3.33e-01 | 1.83e-01 | 3.36e+00 | 7.87e-04 | 1.48e-03 | 1.51e-01 |
| HNSC | cg03148184 | chr4:110641357 | CGI:chr4:110639407-110639652 | promoter,gene body | 5.62e-01 | 4.04e-01 | 3.66e+00 | 2.50e-04 | 5.61e-04 | 1.58e-01 |
| LUSC | cg27183679 | chr4:110641389 | CGI:chr4:110639407-110639652 | promoter,gene body | 2.77e-01 | 2.91e-02 | 4.36e+00 | 1.29e-05 | 5.26e-04 | 2.48e-01 |
| LUSC | cg16933229 | chr4:110640196 | CGI:chr4:110639407-110639652 | promoter,gene body | 6.50e-01 | 1.99e-01 | 4.32e+00 | 1.53e-05 | 5.26e-04 | 4.51e-01 |
| LUSC | cg03133735 | chr4:110641114 | CGI:chr4:110639407-110639652 | promoter,gene body | 7.65e-01 | 3.52e-01 | 4.37e+00 | 1.26e-05 | 5.26e-04 | 4.14e-01 |
| LUSC | cg03148184 | chr4:110641357 | CGI:chr4:110639407-110639652 | promoter,gene body | 5.40e-01 | 2.09e-01 | 4.36e+00 | 1.32e-05 | 5.26e-04 | 3.31e-01 |
| LUSC | cg11671598 | chr4:110641955 | CGI:chr4:110639407-110639652 | UTR,promoter,exon,gene body | 5.76e-01 | 3.91e-01 | 4.10e+00 | 4.17e-05 | 5.38e-04 | 1.85e-01 |
| LUSC | cg08326515 | chr4:110643449 | CGI:chr4:110639407-110639652 | promoter | 5.67e-01 | 6.72e-01 | -2.46e+00 | 1.38e-02 | 1.78e-02 | -1.05e-01 |
| COAD | cg03148184 | chr4:110641357 | CGI:chr4:110639407-110639652 | promoter,gene body | 6.67e-01 | 5.55e-01 | 3.76e+00 | 1.70e-04 | 5.34e-04 | 1.12e-01 |
| ESCA | cg27183679 | chr4:110641389 | CGI:chr4:110639407-110639652 | promoter,gene body | 4.04e-01 | 1.79e-01 | 2.59e+00 | 9.57e-03 | 3.60e-02 | 2.25e-01 |
| ESCA | cg16933229 | chr4:110640196 | CGI:chr4:110639407-110639652 | promoter,gene body | 7.90e-01 | 5.03e-01 | 3.45e+00 | 5.51e-04 | 3.37e-02 | 2.87e-01 |
| ESCA | cg03133735 | chr4:110641114 | CGI:chr4:110639407-110639652 | promoter,gene body | 7.76e-01 | 4.05e-01 | 3.73e+00 | 1.89e-04 | 3.37e-02 | 3.70e-01 |
| ESCA | cg11671598 | chr4:110641955 | CGI:chr4:110639407-110639652 | UTR,promoter,exon,gene body | 6.25e-01 | 4.69e-01 | 2.57e+00 | 1.01e-02 | 3.62e-02 | 1.56e-01 |
| CHOL | cg27183679 | chr4:110641389 | CGI:chr4:110639407-110639652 | promoter,gene body | 3.15e-01 | 8.14e-02 | 2.65e+00 | 7.96e-03 | 1.92e-02 | 2.34e-01 |
| CHOL | cg03148184 | chr4:110641357 | CGI:chr4:110639407-110639652 | promoter,gene body | 5.25e-01 | 2.38e-01 | 2.65e+00 | 7.96e-03 | 1.92e-02 | 2.87e-01 |
| CHOL | cg11671598 | chr4:110641955 | CGI:chr4:110639407-110639652 | UTR,promoter,exon,gene body | 5.79e-01 | 2.93e-01 | 3.54e+00 | 4.02e-04 | 8.32e-03 | 2.86e-01 |
| Differentially expressed CpG sites between female tumor and female normal patients. |
| Cancer Type | CpG Site | Position | CpG Island | Position to Gene | ave1 | ave2 | wilcoxon.w | wilcoxon.p | padj | dBeta |
| BRCA | cg27183679 | chr4:110641389 | CGI:chr4:110639407-110639652 | promoter,gene body | 2.66e-01 | 8.46e-02 | 8.24e+00 | 1.66e-16 | 6.79e-16 | 1.81e-01 |
| BRCA | cg03148184 | chr4:110641357 | CGI:chr4:110639407-110639652 | promoter,gene body | 5.33e-01 | 3.83e-01 | 8.80e+00 | 1.41e-18 | 6.79e-18 | 1.51e-01 |
| HNSC | cg08326515 | chr4:110643449 | CGI:chr4:110639407-110639652 | promoter | 4.95e-01 | 6.25e-01 | -2.51e+00 | 1.20e-02 | 2.06e-02 | -1.30e-01 |
| BLCA | cg16933229 | chr4:110640196 | CGI:chr4:110639407-110639652 | promoter,gene body | 7.16e-01 | 6.03e-01 | 2.45e+00 | 1.42e-02 | 2.18e-02 | 1.13e-01 |
| BLCA | cg03133735 | chr4:110641114 | CGI:chr4:110639407-110639652 | promoter,gene body | 8.17e-01 | 7.15e-01 | 2.89e+00 | 3.80e-03 | 9.71e-03 | 1.02e-01 |
| LIHC | cg27183679 | chr4:110641389 | CGI:chr4:110639407-110639652 | promoter,gene body | 1.46e-01 | 3.48e-02 | 2.63e+00 | 8.58e-03 | 1.23e-02 | 1.11e-01 |
Top |
Exon skipping events with PSI in TCGA for PITX2 |
| ∗Please access ExonSkipDB for exon skipping annotation. |
| Differentially expressed exon skipping events between male tumor and female tumor patients. |
| Cancer Type | Exon Skipping | ave.female_T | ave.female_N | wilcoxon.w | wilcoxon.p | padj | dPSI |
| Differentially expressed exon skipping events between male tumor and male normal patients. |
| Cancer Type | Exon Skipping | ave.female_T | ave.female_N | wilcoxon.w | wilcoxon.p | padj | dPSI |
| Differentially expressed exon skipping events between female tumor and female normal patients. |
| Cancer Type | Exon Skipping | ave.female_T | ave.female_N | wilcoxon.w | wilcoxon.p | padj | dPSI |
Top |
RNA A-to-I editing events in TCGA for PITX2 |
| ∗Please access CAeditome for RNA editing annotation. |
| Differentially expressed RNA editing events between male tumor and female tumor patients. |
| Cancer Type | Transcript | Editing | ave.male_T | ave.female_T | wilcoxon.w | wilcoxon.p | p_adj | dFre |
| Differentially expressed RNA editing events between male tumor and male normal patients. |
| Cancer Type | Transcript | Editing | ave.male_T | ave.female_T | wilcoxon.w | wilcoxon.p | p_adj | dFre |
| Differentially expressed RNA editing events between female tumor and female normal patients. |
| Cancer Type | Transcript | Editing | ave.male_T | ave.female_T | wilcoxon.w | wilcoxon.p | p_adj | dFre |
| Protein coding RNA editing(s). |
| Editing Position | Variant Type | Gene Symbol | Transcript ID | NTchange | AAchange |
Top |
Sex-biased TF-Gene network for PITX2 |
| TFs related to PITX2. ∗The female-biased TF-gene edges were identified if Female_Edge_threshold>0.98 and Male_Edge_threshold<=0.98. ∗The male-biased TF-gene edges were identified if Male_Edge_threshold>0.98 and Female_Edge_threshold<=0.98. |
 |
| Cancer Type | TF | Target Gene | Male Edge Score | Male Edge Threshold | Female Edge Score | Female Edge Threshold | Type |
| MESO | ZNF79 | PITX2 | 2.46e+00 | 2.06e-03 | 4.19e+00 | 9.87e-01 | Female-biased |
| PITX2 related gene. ∗Only the gene encode TF might with this result. ∗For more information please check Sex-biased TF-Coding gene network. |
Top |
Sex-biased RBP-ES network for PITX2 |
| RBPs related to ES in PITX2. ∗The female-biased RBP-ES edges were identified if Female_Edge_threshold>0.98 and Male_Edge_threshold<=0.98. ∗The male-biased RBP-ES edges were identified if Male_Edge_threshold>0.98 and Female_Edge_threshold<=0.98. |
| Cancer Type | RBP | Target ES | Male Edge Score | Male Edge Threshold | Female Edge Score | Female Edge Threshold | Type |
| PITX2 related ES. ∗Only the gene encode RBP might with this result. ∗For more information please check Sex-biased RBP-ES network in cancer. |
Top |
Sex-biased CeRNA regulation of gene |
| Sex-biased CeRNA regulation of gene. |
| Gene ID | ceRNA(lncRNA-miRNA-mRNA) | Group | Cancer Type |
| ENSG00000164093 | LOH12CR2,hsa-mir-203a,PITX2 | Male-specific ceRNA | TCGA-BLCA |
| ENSG00000164093 | LINC01140,hsa-mir-203a,PITX2 | Male-specific ceRNA | TCGA-BLCA |
| ENSG00000164093 | AC022364.1,hsa-mir-203a,PITX2 | Male-specific ceRNA | TCGA-BLCA |
| ENSG00000164093 | AC005330.1,hsa-mir-203a,PITX2 | Male-specific ceRNA | TCGA-BLCA |
| ENSG00000164093 | AC022364.1,hsa-mir-340,PITX2 | Male-specific ceRNA | TCGA-BLCA |
| ENSG00000164093 | AL358933.1,hsa-mir-340,PITX2 | Male-specific ceRNA | TCGA-BLCA |
| ENSG00000164093 | AP000802.1,hsa-mir-340,PITX2 | Male-specific ceRNA | TCGA-BLCA |
| ENSG00000164093 | LINC02476,hsa-mir-369,PITX2 | Male-specific ceRNA | TCGA-KIRC |
| ENSG00000164093 | NGF-AS1,hsa-mir-203a,PITX2 | Male-specific ceRNA | TCGA-KIRP |
| ENSG00000164093 | AC125603.4,hsa-mir-203a,PITX2 | Male-specific ceRNA | TCGA-KIRP |
| ENSG00000164093 | PRECSIT,hsa-mir-340,PITX2 | Male-specific ceRNA | TCGA-KIRP |
Top |
Sex-biased eQTL regulation of gene |
| Sex-biased eQTL regulation of gene (The figures only show the pairs with FDR <1e-5. For more information please check the below table). |
| eQTL | Description |
| Male-specific eQTL regulation. |
| SNP ID | SNP Info | Position to Gene | Effect Score | FDR | Cancer Type | Biased Type |
| rs72670339 | chr4:109077878:T:C | - | 0.109956557437683 | 0.0217764842212151 | HNSC | Female-baised eQTL |
| rs55810387 | chr4:109113640:C:T | - | 0.109613051156568 | 0.022870209672435 | HNSC | Female-baised eQTL |
| rs17039766 | chr4:109085276:C:A | - | 0.104439996103113 | 0.0331384053974358 | HNSC | Female-baised eQTL |
| rs61442444 | chr4:109102898:T:C | - | 0.104439996103113 | 0.0331384053974358 | HNSC | Female-baised eQTL |
| rs72670345 | chr4:109104450:C:T | - | 0.104439996103113 | 0.0331384053974358 | HNSC | Female-baised eQTL |
| rs72670337 | chr4:109074054:G:C | - | 0.104409920084673 | 0.0349899555848561 | HNSC | Female-baised eQTL |
| Female-specific eQTL regulation. |
| SNP ID | SNP Info | Position to Gene | Effect Score | FDR | Cancer Type | Biased Type |
| rs7695544 | chr4:119820087:G:A | - | -0.168702517598449 | 0.0495531104102426 | READ | Male-baised eQTL |
| rs35351882 | chr4:120540368:T:A | - | 0.0645250633762854 | 0.0426902325380508 | HNSC | Male-baised eQTL |
| rs72672232 | chr4:111070118:G:A | - | 0.162861243671551 | 0.049687547305701 | SARC | Male-baised eQTL |
| rs72672233 | chr4:111070319:G:A | - | 0.162861243671551 | 0.049687547305701 | SARC | Male-baised eQTL |
| rs72672236 | chr4:111070845:A:T | - | 0.162861243671551 | 0.049687547305701 | SARC | Male-baised eQTL |
| rs989435 | chr4:106743204:G:A | - | -0.0901939564989725 | 0.00516725609389878 | LUSC | Male-baised eQTL |
| rs144369883 | chr4:106901006:G:A | - | 0.0884883757881439 | 0.00686240727690958 | LUSC | Male-baised eQTL |
| rs7694994 | chr4:106899533:G:A | - | 0.0844185030217793 | 0.0111803062720643 | LUSC | Male-baised eQTL |
| rs140497601 | chr4:106900993:G:T | - | 0.0843458210871395 | 0.0113917668239537 | LUSC | Male-baised eQTL |
| rs9995537 | chr4:106902031:T:C | - | 0.0843458210871395 | 0.0113917668239537 | LUSC | Male-baised eQTL |
| rs186752624 | chr4:106902338:T:A | - | 0.0843458210871395 | 0.0113917668239537 | LUSC | Male-baised eQTL |
| rs111896778 | chr4:106903037:T:G | - | 0.0843458210871395 | 0.0113917668239537 | LUSC | Male-baised eQTL |
| rs28876150 | chr4:106894927:C:T | - | 0.0816480519757919 | 0.0164829854269218 | LUSC | Male-baised eQTL |
| rs28451253 | chr4:106887927:G:A | - | 0.0790097494275444 | 0.0236920018022176 | LUSC | Male-baised eQTL |
| rs3908191 | chr4:106894298:G:C | - | 0.0790097494275444 | 0.0236920018022176 | LUSC | Male-baised eQTL |
| rs13126659 | chr4:113000698:G:T | - | 0.0497467537521533 | 0.027628779132266 | BLCA | Male-baised eQTL |
| rs28619323 | chr4:112999570:A:G | - | 0.0480008738373861 | 0.049549068376335 | BLCA | Male-baised eQTL |
| rs28444313 | chr4:112999592:C:T | - | 0.0480008738373861 | 0.049549068376335 | BLCA | Male-baised eQTL |
| Opposite sex-biased eQTL regulation. |
| SNP ID | SNP Info | Position to Gene | Male Effect | Male FDR | Female Effect | Female FDR | Sex-biased Gene in Cancer | Cancer Type |
Top |
Sex-biased eQTM regulation of gene |
| Sex-biased eQTM regulation of gene (The figures only show the pairs with FDR<1e-5. For more information please check the below table). |
| eQTM | Description |
 | Gene ID: ENSG00000164093 |
| CpG Site: cg13891220 | |
| Position to Gene: gene | |
| Male Effect: -0.397034448396498 | |
| Female Effect: - | |
 | Gene ID: ENSG00000164093 |
| CpG Site: cg27398720 | |
| Position to Gene: gene,exon | |
| Male Effect: -0.329857295982522 | |
| Female Effect: - |
| Male-specific eQTM regulation. |
| CpG Site | CpG Postion | Position to Gene | Effect Score | FDR | Cor.r | Cor.Pvalue | Cancer Type |
| cg13891220 | chr4:110628797 | gene | -0.397034448396498 | 3.15202990292929e-07 | -0.47452740362442614 | 9.268001517918689e-11 | COAD |
| cg27398720 | chr4:110620017 | gene,exon | -0.329857295982522 | 2.51623302103172e-05 | -0.344301898646474 | 1.329076971309815e-07 | LUAD |
| Female-specific eQTM regulation. |
| CpG Site | CpG Postion | Position to Gene | Effect Score | FDR | Cor.r | Cor.Pvalue | Cancer Type |
| Opposite sex-biased eQTM regulation. |
| CpG Site | CpG Postion | CpG Island | Position to Gene | Male Effect | Male FDR | Female Effect | Female FDR | Male Cor | Male P-value | Female Cor | Female P-value | Sex-biased Coding Gene | Cancer Type |
Top |
Sex-biased sQTL regulation of gene |
| Sex-biased sQTL regulation of gene (The figures only show the pairs with FDR <1e-5. For more information please check the below table). |
| sQTL | Description |
| Male-specific sQTL regulation. |
| ES ID | Skipped Exon | ORF Anno | SNP ID | SNP Info | SNP Position to ES | Effect Score | FDR | Cancer Type | Biased Type |
| Female-specific sQTL regulation. |
| ES ID | Skipped Exon | ORF Anno | SNP ID | SNP Info | SNP Position to ES | Effect Score | FDR | Cancer Type | Biased Type |
| Opposite sex-biased sQTL regulation. |
| ES ID | Skipped Exon | ORF Anno | SNP ID | SNP Info | SNP Position to ES | Male Effect | Male FDR | Female Effect | Female FDR | Cancer Type |
Top |
Sex-biased sQTM regulation of gene |
| Sex-biased sQTM regulation of gene (The figures only show the pairs with FDR <1e-5. For more information please check the below table). |
| sQTM | Description |
| Male-specific sQTM regulation. |
| EX ID | Skipped Exon | CPG Site | CPG Position | Position to EX Events | Effect Score | FDR | Cor.r | Cor.Pvalue | ORF_anno | Cancer Type |
| Female-specific sQTM regulation. |
| EX ID | Skipped Exon | CPG Site | CPG Position | Position to EX Events | Effect Score | FDR | Cor.r | Cor.Pvalue | ORF_anno | Cancer Type |
| Opposite sex-biased sQTM regulation. |
| EX ID | EX Info | Skipped Exon | CPG Site | CPG Position | CPG Island | Position to EX Events | Male Effect | Male FDR | Female Effect | Female FDR | Male Correlation | Male P-value | Female Correlation | Female P-value | ORF_anno | Cancer Type |
Top |
Related disease information of PITX2 |
| Diseases associated with this gene (DisGeNET). |
| Gene ID | Gene Symbol | Disease ID | Disease Name | Number of PMID | Source |
| ENSG00000164093 | PITX2 | C0004238 | Atrial Fibrillation | 1 | CTD_human |
| ENSG00000164093 | PITX2 | C0018798 | Congenital Heart Defects | 1 | CTD_human |
| ENSG00000164093 | PITX2 | C0038454 | Cerebrovascular accident | 1 | CTD_human |
| ENSG00000164093 | PITX2 | C0040427 | Tooth Abnormalities | 1 | CTD_human |
| ENSG00000164093 | PITX2 | C0235480 | Paroxysmal atrial fibrillation | 1 | CTD_human |
| ENSG00000164093 | PITX2 | C0376634 | Craniofacial Abnormalities | 2 | CTD_human |
| ENSG00000164093 | PITX2 | C0524730 | Odontome | 1 | CTD_human |
| ENSG00000164093 | PITX2 | C0751956 | Acute Cerebrovascular Accidents | 1 | CTD_human |
| ENSG00000164093 | PITX2 | C1842031 | IRIDOGONIODYSGENESIS, TYPE 2 | 1 | CTD_human |
| ENSG00000164093 | PITX2 | C1867155 | RING DERMOID OF CORNEA | 1 | CTD_human |
| ENSG00000164093 | PITX2 | C2585653 | Persistent atrial fibrillation | 1 | CTD_human |
| ENSG00000164093 | PITX2 | C3468561 | familial atrial fibrillation | 1 | CTD_human |
| ENSG00000164093 | PITX2 | C3714873 | Axenfeld-Rieger Syndrome, Type 1 | 5 | CTD_human |
