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Gene: PCBD2 |
Gene summary for PCBD2 |
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Gene information | Species | Human | Gene symbol | PCBD2 | Gene ID | 84105 |
Gene name | pterin-4 alpha-carbinolamine dehydratase 2 | |
Gene Alias | DCOH2 | |
Cytomap | 5q31.1 | |
Gene Type | protein-coding | GO ID | GO:0006066 | UniProtAcc | Q9H0N5 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
84105 | PCBD2 | A002-C-205 | Human | Colorectum | FAP | 4.41e-17 | -3.23e-01 | -0.1236 |
84105 | PCBD2 | A015-C-005 | Human | Colorectum | FAP | 4.30e-02 | -2.01e-01 | -0.0336 |
84105 | PCBD2 | A015-C-006 | Human | Colorectum | FAP | 1.69e-11 | -4.73e-01 | -0.0994 |
84105 | PCBD2 | A015-C-106 | Human | Colorectum | FAP | 8.04e-08 | -2.21e-01 | -0.0511 |
84105 | PCBD2 | A002-C-114 | Human | Colorectum | FAP | 3.21e-15 | -3.08e-01 | -0.1561 |
84105 | PCBD2 | A015-C-104 | Human | Colorectum | FAP | 3.33e-18 | -2.41e-01 | -0.1899 |
84105 | PCBD2 | A001-C-014 | Human | Colorectum | FAP | 2.04e-11 | -2.29e-01 | 0.0135 |
84105 | PCBD2 | A002-C-016 | Human | Colorectum | FAP | 1.40e-13 | -2.55e-01 | 0.0521 |
84105 | PCBD2 | A015-C-002 | Human | Colorectum | FAP | 3.09e-09 | -3.38e-01 | -0.0763 |
84105 | PCBD2 | A001-C-203 | Human | Colorectum | FAP | 1.33e-05 | -1.08e-01 | -0.0481 |
84105 | PCBD2 | A002-C-116 | Human | Colorectum | FAP | 4.54e-26 | -4.54e-01 | -0.0452 |
84105 | PCBD2 | A014-C-008 | Human | Colorectum | FAP | 5.01e-12 | -4.12e-01 | -0.191 |
84105 | PCBD2 | A018-E-020 | Human | Colorectum | FAP | 1.88e-15 | -3.48e-01 | -0.2034 |
84105 | PCBD2 | F034 | Human | Colorectum | FAP | 1.20e-11 | -1.94e-01 | -0.0665 |
84105 | PCBD2 | F072B | Human | Colorectum | FAP | 1.06e-05 | -2.22e-01 | 0.257 |
84105 | PCBD2 | CRC-1-8810 | Human | Colorectum | CRC | 1.44e-03 | -2.45e-01 | 0.6257 |
84105 | PCBD2 | CRC-3-11773 | Human | Colorectum | CRC | 4.71e-09 | -3.45e-01 | 0.2564 |
84105 | PCBD2 | LZE20T | Human | Esophagus | ESCC | 1.59e-02 | 1.32e-01 | 0.0662 |
84105 | PCBD2 | LZE24T | Human | Esophagus | ESCC | 3.76e-05 | 2.27e-01 | 0.0596 |
84105 | PCBD2 | P1T-E | Human | Esophagus | ESCC | 1.74e-07 | 2.63e-01 | 0.0875 |
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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:0006066 | Colorectum | AD | alcohol metabolic process | 106/3918 | 353/18723 | 3.02e-05 | 5.57e-04 | 106 |
GO:0006520 | Colorectum | AD | cellular amino acid metabolic process | 81/3918 | 284/18723 | 1.37e-03 | 1.19e-02 | 81 |
GO:00060661 | Colorectum | SER | alcohol metabolic process | 79/2897 | 353/18723 | 3.50e-04 | 5.50e-03 | 79 |
GO:00065201 | Colorectum | SER | cellular amino acid metabolic process | 61/2897 | 284/18723 | 4.20e-03 | 3.41e-02 | 61 |
GO:00060662 | Colorectum | MSS | alcohol metabolic process | 92/3467 | 353/18723 | 2.57e-04 | 3.46e-03 | 92 |
GO:0042559 | Colorectum | MSS | pteridine-containing compound biosynthetic process | 8/3467 | 15/18723 | 2.54e-03 | 2.02e-02 | 8 |
GO:0046394 | Colorectum | MSS | carboxylic acid biosynthetic process | 76/3467 | 314/18723 | 6.71e-03 | 4.38e-02 | 76 |
GO:0016053 | Colorectum | MSS | organic acid biosynthetic process | 76/3467 | 316/18723 | 7.88e-03 | 4.84e-02 | 76 |
GO:00425591 | Colorectum | MSI-H | pteridine-containing compound biosynthetic process | 8/1319 | 15/18723 | 2.44e-06 | 1.43e-04 | 8 |
GO:0042558 | Colorectum | MSI-H | pteridine-containing compound metabolic process | 10/1319 | 33/18723 | 6.01e-05 | 2.05e-03 | 10 |
GO:1901605 | Colorectum | MSI-H | alpha-amino acid metabolic process | 26/1319 | 195/18723 | 1.26e-03 | 2.02e-02 | 26 |
GO:0008652 | Colorectum | MSI-H | cellular amino acid biosynthetic process | 13/1319 | 76/18723 | 2.35e-03 | 3.12e-02 | 13 |
GO:1901607 | Colorectum | MSI-H | alpha-amino acid biosynthetic process | 12/1319 | 68/18723 | 2.60e-03 | 3.41e-02 | 12 |
GO:00463941 | Colorectum | MSI-H | carboxylic acid biosynthetic process | 36/1319 | 314/18723 | 2.68e-03 | 3.48e-02 | 36 |
GO:00160531 | Colorectum | MSI-H | organic acid biosynthetic process | 36/1319 | 316/18723 | 2.98e-03 | 3.78e-02 | 36 |
GO:0034311 | Colorectum | MSI-H | diol metabolic process | 7/1319 | 29/18723 | 3.34e-03 | 4.05e-02 | 7 |
GO:00060663 | Colorectum | FAP | alcohol metabolic process | 69/2622 | 353/18723 | 2.29e-03 | 1.85e-02 | 69 |
GO:00060664 | Colorectum | CRC | alcohol metabolic process | 57/2078 | 353/18723 | 2.37e-03 | 2.27e-02 | 57 |
GO:0019751 | Colorectum | CRC | polyol metabolic process | 22/2078 | 114/18723 | 6.73e-03 | 4.77e-02 | 22 |
GO:00060668 | Esophagus | ESCC | alcohol metabolic process | 202/8552 | 353/18723 | 7.32e-06 | 7.26e-05 | 202 |
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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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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 |
PCBD2 | SNV | Missense_Mutation | c.183N>G | p.Ile61Met | p.I61M | Q9H0N5 | protein_coding | deleterious(0.02) | probably_damaging(0.968) | TCGA-LP-A5U2-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD | |
PCBD2 | deletion | In_Frame_Del | c.260_262delTGA | p.Met87del | p.M87del | Q9H0N5 | protein_coding | TCGA-F4-6570-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |||
PCBD2 | SNV | Missense_Mutation | novel | c.206N>G | p.Asn69Ser | p.N69S | Q9H0N5 | protein_coding | tolerated(0.12) | benign(0.07) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PCBD2 | SNV | Missense_Mutation | rs763152332 | c.242N>T | p.Ala81Val | p.A81V | Q9H0N5 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-DF-A2KN-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
PCBD2 | SNV | Missense_Mutation | novel | c.269N>G | p.His90Arg | p.H90R | Q9H0N5 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PCBD2 | deletion | Frame_Shift_Del | novel | c.345delA | p.Asp116MetfsTer2 | p.D116Mfs*2 | Q9H0N5 | protein_coding | TCGA-E6-A2P9-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
PCBD2 | SNV | Missense_Mutation | c.216N>T | p.Gln72His | p.Q72H | Q9H0N5 | protein_coding | deleterious(0) | possibly_damaging(0.463) | TCGA-75-6214-01 | Lung | lung adenocarcinoma | Female | Unknown | III/IV | Unknown | Unknown | PD | |
PCBD2 | deletion | Frame_Shift_Del | novel | c.345delA | p.Asp116MetfsTer2 | p.D116Mfs*2 | Q9H0N5 | protein_coding | TCGA-21-1080-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | ||
PCBD2 | insertion | Frame_Shift_Ins | novel | c.283_284insATGTATACAACAAGGTAACTAAACTGCCTTATTT | p.Gln101ThrfsTer19 | p.Q101Tfs*19 | Q9H0N5 | protein_coding | TCGA-Y6-A8TL-01 | Prostate | prostate adenocarcinoma | Male | >=65 | 6 | 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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