TF information
| TF name: | PITX1 |
| TF family: | Homeobox |
| Ensembl gene ID: | ENSG00000069011 |
| Ensembl protein ID: | ENSP00000451199, ENSP00000423624, ENSP00000427542, ENSP00000265340, ENSP00000422908 |
| Entrez gene ID: | 5307 |
| Database name | Link | Database name | Link |
| NCBI Gene: |  |
Genecards: |  |
| Uniprot: |  |
Wikipedia: |  |
| Cosmic 3D: |  |
Geneontology: |  |
| CCLE: |  |
Frequency of PITX1 in all biosamples
| Sample ID | Biosample type | Tissue type | Biosample name | TF Frequency |
|---|---|---|---|---|
| Sample_02_021 | Cell line | Colon | V429 | 0.26578264629576 |
| Sample_02_241 | Cell line | Colon | V456 | 0.28781038374718 |
| Sample_02_242 | Cell line | Colon | V481 | 0.2423572389925 |
| Sample_02_354 | Cell line | Colon | Colo205 | 0.45345345345345 |
PITX1 distribution in samples’ most representative CRC
| Sample ID | Tissue type | Biosample type | Biosample name |
|---|
PITX1 distribution in all CRCs
Genomic distribution of SEs associated with PITX1
Genomic distribution of SEs associated with TF
Figure legend:
Genomic distribution of SEs associated with TF: It can roughly understand the genomic regions of SEs associated with TF, and help to carry out the next analysis, such as knocking down the experiment.
What is important information?
The yellow box can be thought of as the common genomic regions that regulates the SEs associated with TF. For example, if a knockdown experiment is performed on this region, then theoretically, the expression of the TF will be greatly reduced.
| Database name | Link |
|---|---|
| Cosmic: |  |
| Cosmic cell lines: |  |
| Depmap: |  |
TCGA somatic mutations and clinical variants of PITX1
| rsID | Chr | Start | Stop | Ref | Alt | Gene_region | Gene_symble | Effect | TCGA_Occurrence |
|---|---|---|---|---|---|---|---|---|---|
| - | chr5 | 134364847 | 134364847 | - | A | exonic | PITX1 | frameshift | HNSC|1|512|0.00195 |
| rs775755663 | chr5 | 134364727 | 134364727 | C | T | exonic | PITX1 | nonsynonymous | LUAD|1|543|0.00184 |
| rs779923896 | chr5 | 134367190 | 134367190 | G | A | exonic | PITX1 | nonsynonymous | PRAD|1|499|0.00200 |
| - | chr5 | 134367076 | 134367076 | T | C | exonic | PITX1 | nonsynonymous | KIPAN|1|799|0.00125,KIRP|1|282|0.00355 |
| - | chr5 | 134364717 | 134364717 | C | T | exonic | PITX1 | nonsynonymous | UCEC|1|248|0.00403 |
| rs773259804 | chr5 | 134364888 | 134364888 | C | T | exonic | PITX1 | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
| - | chr5 | 134364975 | 134364975 | G | T | exonic | PITX1 | nonsynonymous | LUSC|1|178|0.00562 |
| - | chr5 | 134367042 | 134367042 | T | C | exonic | PITX1 | nonsynonymous | GBMLGG|1|820|0.00122,LGG|1|530|0.00189 |
| - | chr5 | 134365003 | 134365003 | G | A | exonic | PITX1 | synonymous | HNSC|1|512|0.00195 |
| - | chr5 | 134364901 | 134364901 | G | T | exonic | PITX1 | stopgain | LUAD|2|543|0.00368 |
| - | chr5 | 134364949 | 134364949 | C | - | exonic | PITX1 | frameshift | UCEC|1|248|0.00403 |
| rs146204449 | chr5 | 134364763 | 134364763 | G | C | exonic | PITX1 | synonymous | CESC|1|194|0.00515 |
| rs140746945 | chr5 | 134364489 | 134364489 | C | T | exonic | PITX1 | nonsynonymous | LUAD|2|543|0.00368 |
| - | chr5 | 134364715 | 134364715 | G | T | exonic | PITX1 | synonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
| - | chr5 | 134364795 | 134364795 | G | C | exonic | PITX1 | nonsynonymous | LIHC|1|373|0.00268 |
| rs772730554 | chr5 | 134364505 | 134364505 | C | T | exonic | PITX1 | synonymous | HNSC|1|512|0.00195 |
| rs757231285 | chr5 | 134364640 | 134364640 | C | T | exonic | PITX1 | synonymous | COADREAD|1|489|0.00204,READ|1|122|0.00820 |
| - | chr5 | 134367105 | 134367106 | TT | - | exonic | PITX1 | frameshift | BRCA|2|982|0.00204 |
| - | chr5 | 134364650 | 134364650 | G | A | exonic | PITX1 | nonsynonymous | UCEC|1|248|0.00403 |
| - | chr5 | 134364669 | 134364669 | T | C | exonic | PITX1 | nonsynonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
| - | chr5 | 134364978 | 134364978 | - | A | exonic | PITX1 | stopgain | STAD|1|395|0.00253,STES|1|395|0.00253 |
| - | chr5 | 134364975 | 134364975 | G | A | exonic | PITX1 | nonsynonymous | UCEC|1|248|0.00403 |
| - | chr5 | 134367090 | 134367090 | C | T | exonic | PITX1 | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
| - | chr5 | 134364969 | 134364969 | G | A | exonic | PITX1 | nonsynonymous | COAD|1|367|0.00272,COADREAD|1|489|0.00204 |
| - | chr5 | 134369448 | 134369448 | G | C | exonic | PITX1 | nonsynonymous | STAD|1|395|0.00253,STES|1|395|0.00253 |
| - | chr5 | 134364509 | 134364509 | C | T | exonic | PITX1 | nonsynonymous | SKCM|1|368|0.00272 |
| - | chr5 | 134364708 | 134364708 | C | T | exonic | PITX1 | nonsynonymous | BRCA|1|982|0.00102 |
| rs761995125 | chr5 | 134364859 | 134364859 | G | A | exonic | PITX1 | synonymous | GBMLGG|1|820|0.00122,LGG|1|530|0.00189 |
| - | chr5 | 134364919 | 134364919 | G | A | exonic | PITX1 | synonymous | UCEC|1|248|0.00403 |
| - | chr5 | 134364547 | 134364547 | G | A | exonic | PITX1 | synonymous | HNSC|1|512|0.00195 |
| rs569223515 | chr5 | 134364829 | 134364829 | G | A | exonic | PITX1 | synonymous | SKCM|1|368|0.00272 |
| - | chr5 | 134364577 | 134364577 | G | C | exonic | PITX1 | nonsynonymous | HNSC|1|512|0.00195 |
| rs139844695 | chr5 | 134367153 | 134367153 | G | A | exonic | PITX1 | nonsynonymous | GBMLGG|1|820|0.00122,LGG|1|530|0.00189 |
| - | chr5 | 134364558 | 134364558 | G | T | exonic | PITX1 | synonymous | CESC|1|194|0.00515 |
| - | chr5 | 134364608 | 134364608 | G | C | exonic | PITX1 | nonsynonymous | CESC|1|194|0.00515 |
| - | chr5 | 134364688 | 134364688 | G | T | exonic | PITX1 | synonymous | HNSC|1|512|0.00195 |
| - | chr5 | 134367188 | 134367188 | G | A | exonic | PITX1 | synonymous | UCEC|1|248|0.00403 |
| - | chr5 | 134364843 | 134364843 | G | T | exonic | PITX1 | nonsynonymous | LUAD|1|543|0.00184 |
| rs61751190 | chr5 | 134364535 | 134364535 | C | G | exonic | PITX1 | synonymous | TGCT|1|155|0.00645 |
| rs753029316 | chr5 | 134366998 | 134366998 | C | T | exonic | PITX1 | nonsynonymous | LUAD|1|543|0.00184 |
| - | chr5 | 134364925 | 134364925 | C | T | exonic | PITX1 | synonymous | BLCA|1|396|0.00253 |
| - | chr5 | 134364597 | 134364597 | C | T | exonic | PITX1 | nonsynonymous | OV|1|469|0.00213,STAD|1|395|0.00253,STES|1|395|0.00253 |
| - | chr5 | 134364803 | 134364803 | G | A | exonic | PITX1 | nonsynonymous | SKCM|1|368|0.00272 |
| - | chr5 | 134367080 | 134367080 | G | A | exonic | PITX1 | synonymous | SKCM|1|368|0.00272 |
| - | chr5 | 134364788 | 134364788 | G | A | exonic | PITX1 | nonsynonymous | SKCM|2|368|0.00543 |
| TF_name | Disease_name | Disease_class | Disease_semantic_type | TF_disease_source |
|---|---|---|---|---|
| PITX1 | Autistic Disorder | F03 | Mental or Behavioral Dysfunction | CTD_human |
| PITX1 | Congenital clubfoot | C05;C16 | Congenital Abnormality | CTD_human;UNIPROT |
| PITX1 | Polydactyly | C05;C16 | Congenital Abnormality | GENOMICS_ENGLAND |
| PITX1 | Testicular Germ Cell Tumor | C04;C12;C19 | Neoplastic Process | CTD_human |
| PITX1 | LAURIN-SANDROW SYNDROME | C05;C16 | Disease or Syndrome | ORPHANET |
| PITX1 | Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly | C05;C16 | Disease or Syndrome | CTD_human;ORPHANET |
| PITX1 | Radial club hand | Congenital Abnormality | GENOMICS_ENGLAND |
| pathway_ID | pathway_name | pathway_source | gene_number | edge_number |
|---|
| GO_term_name | GO_term_type | TF_name |
|---|---|---|
| GO_CARTILAGE_DEVELOPMENT | BP | PITX1 |
| GO_HINDLIMB_MORPHOGENESIS | BP | PITX1 |
| GO_PITUITARY_GLAND_DEVELOPMENT | BP | PITX1 |
| GO_MYOBLAST_DIFFERENTIATION | BP | PITX1 |
| GO_EMBRYONIC_HINDLIMB_MORPHOGENESIS | BP | PITX1 |
| GO_ENDOCRINE_SYSTEM_DEVELOPMENT | BP | PITX1 |
| GO_TRANSCRIPTION_FACTOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_BINDING | MF | PITX1 |
| GO_TRANSCRIPTIONAL_REPRESSOR_ACTIVITY_RNA_POLYMERASE_II_ACTIVATING_TRANSCRIPTION_FACTOR_BINDING | MF | PITX1 |
| GO_TRANSCRIPTIONAL_REPRESSOR_ACTIVITY_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_BINDING | MF | PITX1 |
| GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_BINDING | MF | PITX1 |