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Gene: PITX1 |
Gene summary for PITX1 |
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Gene information | Species | Human | Gene symbol | PITX1 | Gene ID | 5307 |
Gene name | paired like homeodomain 1 | |
Gene Alias | BFT | |
Cytomap | 5q31.1 | |
Gene Type | protein-coding | GO ID | GO:0001501 | UniProtAcc | P78337 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
5307 | PITX1 | N_HPV_2 | Human | Cervix | N_HPV | 2.54e-13 | 5.59e-01 | -0.0131 |
5307 | PITX1 | CCI_2 | Human | Cervix | CC | 4.18e-18 | 1.41e+00 | 0.5249 |
5307 | PITX1 | CCI_3 | Human | Cervix | CC | 7.06e-03 | 4.90e-01 | 0.516 |
5307 | PITX1 | Tumor | Human | Cervix | CC | 1.78e-03 | 1.30e-01 | 0.1241 |
5307 | PITX1 | sample3 | Human | Cervix | CC | 8.48e-08 | 1.69e-01 | 0.1387 |
5307 | PITX1 | H2 | Human | Cervix | HSIL_HPV | 1.47e-08 | 4.15e-01 | 0.0632 |
5307 | PITX1 | L1 | Human | Cervix | CC | 6.72e-04 | 4.78e-01 | 0.0802 |
5307 | PITX1 | T1 | Human | Cervix | CC | 1.75e-03 | 1.44e-01 | 0.0918 |
5307 | PITX1 | T3 | Human | Cervix | CC | 1.12e-11 | 2.21e-01 | 0.1389 |
5307 | PITX1 | HTA11_3410_2000001011 | Human | Colorectum | AD | 1.41e-17 | 3.36e-01 | 0.0155 |
5307 | PITX1 | HTA11_2487_2000001011 | Human | Colorectum | SER | 2.03e-06 | 2.22e-01 | -0.1808 |
5307 | PITX1 | HTA11_1938_2000001011 | Human | Colorectum | AD | 6.92e-17 | 4.78e-01 | -0.0811 |
5307 | PITX1 | HTA11_78_2000001011 | Human | Colorectum | AD | 6.21e-16 | 4.03e-01 | -0.1088 |
5307 | PITX1 | HTA11_2112_2000001011 | Human | Colorectum | SER | 1.90e-02 | 2.42e-01 | -0.2196 |
5307 | PITX1 | HTA11_3361_2000001011 | Human | Colorectum | AD | 1.34e-03 | 1.56e-01 | -0.1207 |
5307 | PITX1 | HTA11_866_2000001011 | Human | Colorectum | AD | 8.13e-03 | 1.13e-01 | -0.1001 |
5307 | PITX1 | HTA11_1391_2000001011 | Human | Colorectum | AD | 3.44e-15 | 3.47e-01 | -0.059 |
5307 | PITX1 | HTA11_546_2000001011 | Human | Colorectum | AD | 7.78e-03 | 1.98e-01 | -0.0842 |
5307 | PITX1 | HTA11_866_3004761011 | Human | Colorectum | AD | 1.58e-03 | 1.29e-01 | 0.096 |
5307 | PITX1 | HTA11_9408_2000001011 | Human | Colorectum | AD | 6.41e-12 | 5.84e-01 | 0.0451 |
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∗log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage. |
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Malignant transformation related pathway analysis |
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Tissue | Disease Stage | Enriched GO biological Processes |
Colorectum | AD | ![]() |
Colorectum | SER | ![]() |
Colorectum | MSS | ![]() |
Colorectum | MSI-H | ![]() |
Colorectum | FAP | ![]() |
∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:004873214 | Breast | IDC | gland development | 64/1434 | 436/18723 | 3.47e-07 | 1.74e-05 | 64 |
GO:006053711 | Breast | IDC | muscle tissue development | 50/1434 | 403/18723 | 4.91e-04 | 6.45e-03 | 50 |
GO:00147061 | Breast | IDC | striated muscle tissue development | 46/1434 | 384/18723 | 1.67e-03 | 1.63e-02 | 46 |
GO:00075172 | Breast | IDC | muscle organ development | 38/1434 | 327/18723 | 6.63e-03 | 4.62e-02 | 38 |
GO:004873223 | Breast | DCIS | gland development | 60/1390 | 436/18723 | 2.50e-06 | 8.74e-05 | 60 |
GO:006053721 | Breast | DCIS | muscle tissue development | 50/1390 | 403/18723 | 2.39e-04 | 3.74e-03 | 50 |
GO:00147062 | Breast | DCIS | striated muscle tissue development | 46/1390 | 384/18723 | 8.88e-04 | 1.01e-02 | 46 |
GO:00075171 | Breast | DCIS | muscle organ development | 37/1390 | 327/18723 | 6.86e-03 | 4.75e-02 | 37 |
GO:004873210 | Cervix | CC | gland development | 84/2311 | 436/18723 | 1.93e-05 | 3.54e-04 | 84 |
GO:00605375 | Cervix | CC | muscle tissue development | 76/2311 | 403/18723 | 9.76e-05 | 1.27e-03 | 76 |
GO:00147064 | Cervix | CC | striated muscle tissue development | 72/2311 | 384/18723 | 1.76e-04 | 2.07e-03 | 72 |
GO:0045445 | Cervix | CC | myoblast differentiation | 21/2311 | 84/18723 | 1.08e-03 | 8.94e-03 | 21 |
GO:00487365 | Cervix | CC | appendage development | 35/2311 | 172/18723 | 1.88e-03 | 1.39e-02 | 35 |
GO:00601735 | Cervix | CC | limb development | 35/2311 | 172/18723 | 1.88e-03 | 1.39e-02 | 35 |
GO:00075173 | Cervix | CC | muscle organ development | 58/2311 | 327/18723 | 2.73e-03 | 1.85e-02 | 58 |
GO:00309003 | Cervix | CC | forebrain development | 64/2311 | 379/18723 | 5.53e-03 | 3.19e-02 | 64 |
GO:00075192 | Cervix | CC | skeletal muscle tissue development | 30/2311 | 155/18723 | 7.97e-03 | 4.18e-02 | 30 |
GO:00075191 | Cervix | HSIL_HPV | skeletal muscle tissue development | 16/737 | 155/18723 | 4.13e-04 | 6.25e-03 | 16 |
GO:00605381 | Cervix | HSIL_HPV | skeletal muscle organ development | 16/737 | 166/18723 | 8.78e-04 | 1.13e-02 | 16 |
GO:001470611 | Cervix | HSIL_HPV | striated muscle tissue development | 28/737 | 384/18723 | 1.35e-03 | 1.55e-02 | 28 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
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Somatic mutation of malignant transformation related genes |
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Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
PITX1 | SNV | Missense_Mutation | novel | c.706G>A | p.Gly236Ser | p.G236S | P78337 | protein_coding | tolerated(0.11) | probably_damaging(0.991) | TCGA-A2-A0CO-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | CR |
PITX1 | SNV | Missense_Mutation | novel | c.703C>T | p.Pro235Ser | p.P235S | P78337 | protein_coding | tolerated(0.12) | benign(0.038) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
PITX1 | SNV | Missense_Mutation | rs754287927 | c.392C>T | p.Pro131Leu | p.P131L | P78337 | protein_coding | deleterious(0.03) | benign(0.146) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
PITX1 | SNV | Missense_Mutation | novel | c.194A>G | p.Lys65Arg | p.K65R | P78337 | protein_coding | tolerated(0.21) | benign(0.001) | TCGA-AA-3710-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PITX1 | SNV | Missense_Mutation | c.278G>A | p.Arg93His | p.R93H | P78337 | protein_coding | deleterious(0.03) | probably_damaging(0.998) | TCGA-AA-3966-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
PITX1 | SNV | Missense_Mutation | c.445C>T | p.Arg149Cys | p.R149C | P78337 | protein_coding | deleterious(0) | probably_damaging(0.967) | TCGA-AZ-6601-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
PITX1 | SNV | Missense_Mutation | rs773259804 | c.526N>A | p.Ala176Thr | p.A176T | P78337 | protein_coding | tolerated(0.35) | benign(0.212) | TCGA-CK-6746-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PITX1 | SNV | Missense_Mutation | novel | c.773N>T | p.Ser258Leu | p.S258L | P78337 | protein_coding | deleterious(0.02) | probably_damaging(0.945) | TCGA-A5-A0G1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PITX1 | SNV | Missense_Mutation | novel | c.642C>A | p.Phe214Leu | p.F214L | P78337 | protein_coding | deleterious(0.05) | probably_damaging(0.914) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PITX1 | SNV | Missense_Mutation | novel | c.209G>A | p.Ser70Asn | p.S70N | P78337 | protein_coding | tolerated(0.16) | benign(0.007) | TCGA-AJ-A8CW-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
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