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Gene: UROD |
Gene summary for UROD |
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Gene information | Species | Human | Gene symbol | UROD | Gene ID | 7389 |
Gene name | uroporphyrinogen decarboxylase | |
Gene Alias | PCT | |
Cytomap | 1p34.1 | |
Gene Type | protein-coding | GO ID | GO:0006725 | UniProtAcc | P06132 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
7389 | UROD | LZE2T | Human | Esophagus | ESCC | 3.22e-02 | 4.58e-01 | 0.082 |
7389 | UROD | LZE4T | Human | Esophagus | ESCC | 1.05e-13 | 2.21e-01 | 0.0811 |
7389 | UROD | LZE5T | Human | Esophagus | ESCC | 1.43e-06 | 1.41e-01 | 0.0514 |
7389 | UROD | LZE7T | Human | Esophagus | ESCC | 1.09e-04 | 4.11e-01 | 0.0667 |
7389 | UROD | LZE8T | Human | Esophagus | ESCC | 4.42e-07 | 2.02e-01 | 0.067 |
7389 | UROD | LZE20T | Human | Esophagus | ESCC | 1.40e-05 | 2.70e-01 | 0.0662 |
7389 | UROD | LZE22D1 | Human | Esophagus | HGIN | 4.16e-03 | 6.14e-02 | 0.0595 |
7389 | UROD | LZE22T | Human | Esophagus | ESCC | 5.01e-05 | 1.95e-01 | 0.068 |
7389 | UROD | LZE24T | Human | Esophagus | ESCC | 2.63e-20 | 6.21e-01 | 0.0596 |
7389 | UROD | LZE6T | Human | Esophagus | ESCC | 4.61e-02 | 3.35e-01 | 0.0845 |
7389 | UROD | P1T-E | Human | Esophagus | ESCC | 5.59e-18 | 3.91e-01 | 0.0875 |
7389 | UROD | P2T-E | Human | Esophagus | ESCC | 3.41e-31 | 7.45e-01 | 0.1177 |
7389 | UROD | P4T-E | Human | Esophagus | ESCC | 3.46e-25 | 4.30e-01 | 0.1323 |
7389 | UROD | P5T-E | Human | Esophagus | ESCC | 3.01e-20 | 5.17e-01 | 0.1327 |
7389 | UROD | P8T-E | Human | Esophagus | ESCC | 2.01e-31 | 6.07e-01 | 0.0889 |
7389 | UROD | P9T-E | Human | Esophagus | ESCC | 3.84e-23 | 3.22e-01 | 0.1131 |
7389 | UROD | P10T-E | Human | Esophagus | ESCC | 2.29e-35 | 7.04e-01 | 0.116 |
7389 | UROD | P11T-E | Human | Esophagus | ESCC | 2.49e-17 | 7.26e-01 | 0.1426 |
7389 | UROD | P12T-E | Human | Esophagus | ESCC | 3.31e-32 | 6.45e-01 | 0.1122 |
7389 | UROD | P15T-E | Human | Esophagus | ESCC | 3.79e-28 | 6.10e-01 | 0.1149 |
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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 |
Thyroid | PTC | ![]() |
Thyroid | goiters | ![]() |
Thyroid | ATC | ![]() |
∗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:00067791 | Esophagus | ESCC | porphyrin-containing compound biosynthetic process | 23/8552 | 31/18723 | 1.20e-03 | 5.88e-03 | 23 |
GO:00330141 | Esophagus | ESCC | tetrapyrrole biosynthetic process | 23/8552 | 31/18723 | 1.20e-03 | 5.88e-03 | 23 |
GO:00461482 | Esophagus | ESCC | pigment biosynthetic process | 40/8552 | 62/18723 | 2.14e-03 | 9.54e-03 | 40 |
GO:00067832 | Esophagus | ESCC | heme biosynthetic process | 20/8552 | 27/18723 | 2.61e-03 | 1.11e-02 | 20 |
GO:00330132 | Esophagus | ESCC | tetrapyrrole metabolic process | 37/8552 | 59/18723 | 6.23e-03 | 2.29e-02 | 37 |
GO:00424401 | Esophagus | ESCC | pigment metabolic process | 50/8552 | 84/18723 | 7.34e-03 | 2.64e-02 | 50 |
GO:00421681 | Esophagus | ESCC | heme metabolic process | 27/8552 | 42/18723 | 1.16e-02 | 3.90e-02 | 27 |
GO:0033013 | Liver | Cirrhotic | tetrapyrrole metabolic process | 24/4634 | 59/18723 | 5.06e-03 | 2.62e-02 | 24 |
GO:0006778 | Liver | Cirrhotic | porphyrin-containing compound metabolic process | 20/4634 | 49/18723 | 9.60e-03 | 4.35e-02 | 20 |
GO:0042168 | Liver | HCC | heme metabolic process | 30/7958 | 42/18723 | 1.40e-04 | 1.13e-03 | 30 |
GO:00330131 | Liver | HCC | tetrapyrrole metabolic process | 39/7958 | 59/18723 | 2.14e-04 | 1.63e-03 | 39 |
GO:00067781 | Liver | HCC | porphyrin-containing compound metabolic process | 33/7958 | 49/18723 | 3.86e-04 | 2.62e-03 | 33 |
GO:0042440 | Liver | HCC | pigment metabolic process | 51/7958 | 84/18723 | 5.74e-04 | 3.65e-03 | 51 |
GO:0006783 | Liver | HCC | heme biosynthetic process | 19/7958 | 27/18723 | 3.18e-03 | 1.47e-02 | 19 |
GO:0006779 | Liver | HCC | porphyrin-containing compound biosynthetic process | 21/7958 | 31/18723 | 4.01e-03 | 1.76e-02 | 21 |
GO:0033014 | Liver | HCC | tetrapyrrole biosynthetic process | 21/7958 | 31/18723 | 4.01e-03 | 1.76e-02 | 21 |
GO:0046148 | Liver | HCC | pigment biosynthetic process | 37/7958 | 62/18723 | 4.73e-03 | 2.02e-02 | 37 |
GO:00461481 | Oral cavity | OSCC | pigment biosynthetic process | 36/7305 | 62/18723 | 1.82e-03 | 8.57e-03 | 36 |
GO:00067831 | Oral cavity | OSCC | heme biosynthetic process | 17/7305 | 27/18723 | 1.01e-02 | 3.49e-02 | 17 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa012405 | Esophagus | ESCC | Biosynthesis of cofactors | 97/4205 | 153/8465 | 3.88e-04 | 1.35e-03 | 6.94e-04 | 97 |
hsa0124012 | Esophagus | ESCC | Biosynthesis of cofactors | 97/4205 | 153/8465 | 3.88e-04 | 1.35e-03 | 6.94e-04 | 97 |
hsa01240 | Liver | Cirrhotic | Biosynthesis of cofactors | 66/2530 | 153/8465 | 3.11e-04 | 1.99e-03 | 1.23e-03 | 66 |
hsa012401 | Liver | Cirrhotic | Biosynthesis of cofactors | 66/2530 | 153/8465 | 3.11e-04 | 1.99e-03 | 1.23e-03 | 66 |
hsa012402 | Liver | HCC | Biosynthesis of cofactors | 103/4020 | 153/8465 | 4.67e-07 | 5.05e-06 | 2.81e-06 | 103 |
hsa012403 | Liver | HCC | Biosynthesis of cofactors | 103/4020 | 153/8465 | 4.67e-07 | 5.05e-06 | 2.81e-06 | 103 |
hsa012404 | Oral cavity | OSCC | Biosynthesis of cofactors | 88/3704 | 153/8465 | 3.84e-04 | 1.20e-03 | 6.12e-04 | 88 |
hsa0124011 | Oral cavity | OSCC | Biosynthesis of cofactors | 88/3704 | 153/8465 | 3.84e-04 | 1.20e-03 | 6.12e-04 | 88 |
hsa0124021 | Oral cavity | LP | Biosynthesis of cofactors | 57/2418 | 153/8465 | 1.17e-02 | 3.91e-02 | 2.52e-02 | 57 |
hsa0124031 | Oral cavity | LP | Biosynthesis of cofactors | 57/2418 | 153/8465 | 1.17e-02 | 3.91e-02 | 2.52e-02 | 57 |
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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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TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
∗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 |
UROD | SNV | Missense_Mutation | novel | c.345G>T | p.Glu115Asp | p.E115D | P06132 | protein_coding | deleterious(0.02) | benign(0.005) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
UROD | SNV | Missense_Mutation | rs143823335 | c.578G>A | p.Arg193His | p.R193H | P06132 | protein_coding | tolerated(0.08) | benign(0.001) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
UROD | SNV | Missense_Mutation | novel | c.664G>A | p.Gly222Arg | p.G222R | P06132 | protein_coding | deleterious(0) | probably_damaging(0.991) | TCGA-C5-A3HF-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |
UROD | SNV | Missense_Mutation | c.95C>T | p.Pro32Leu | p.P32L | P06132 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-G4-6309-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Chemotherapy | xeloda | PD | |
UROD | SNV | Missense_Mutation | rs749167939 | c.577C>T | p.Arg193Cys | p.R193C | P06132 | protein_coding | deleterious(0.02) | possibly_damaging(0.647) | TCGA-AG-A002-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
UROD | insertion | Frame_Shift_Ins | novel | c.921_922insA | p.Cys308MetfsTer7 | p.C308Mfs*7 | P06132 | protein_coding | TCGA-A6-5661-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
UROD | SNV | Missense_Mutation | novel | c.558G>T | p.Gln186His | p.Q186H | P06132 | protein_coding | deleterious(0) | benign(0.015) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
UROD | SNV | Missense_Mutation | c.1094G>A | p.Arg365Gln | p.R365Q | P06132 | protein_coding | tolerated(0.29) | benign(0.06) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
UROD | SNV | Missense_Mutation | novel | c.220N>T | p.Arg74Cys | p.R74C | P06132 | protein_coding | deleterious(0) | probably_damaging(0.97) | TCGA-A5-A2K7-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | taxol | SD |
UROD | SNV | Missense_Mutation | novel | c.554C>A | p.Pro185His | p.P185H | P06132 | protein_coding | deleterious(0) | possibly_damaging(0.889) | TCGA-AJ-A3NE-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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