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Gene: HGD |
Gene summary for HGD |
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Gene information | Species | Human | Gene symbol | HGD | Gene ID | 3081 |
Gene name | homogentisate 1,2-dioxygenase | |
Gene Alias | AKU | |
Cytomap | 3q13.33 | |
Gene Type | protein-coding | GO ID | GO:0006082 | UniProtAcc | Q93099 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
3081 | HGD | NAFLD1 | Human | Liver | NAFLD | 6.30e-10 | 1.22e+00 | -0.04 |
3081 | HGD | S41 | Human | Liver | Cirrhotic | 1.91e-03 | 6.05e-01 | -0.0343 |
3081 | HGD | S43 | Human | Liver | Cirrhotic | 1.33e-12 | -3.28e-01 | -0.0187 |
3081 | HGD | S44 | Human | Liver | HCC | 3.23e-04 | 6.29e-01 | -0.0083 |
3081 | HGD | HCC1_Meng | Human | Liver | HCC | 3.36e-113 | -5.89e-02 | 0.0246 |
3081 | HGD | HCC2_Meng | Human | Liver | HCC | 7.40e-40 | -3.09e-01 | 0.0107 |
3081 | HGD | cirrhotic1 | Human | Liver | Cirrhotic | 1.12e-15 | -7.50e-02 | 0.0202 |
3081 | HGD | cirrhotic2 | Human | Liver | Cirrhotic | 1.43e-14 | -2.04e-01 | 0.0201 |
3081 | HGD | cirrhotic3 | Human | Liver | Cirrhotic | 7.34e-06 | -2.90e-01 | 0.0215 |
3081 | HGD | HCC1 | Human | Liver | HCC | 2.11e-20 | 5.26e+00 | 0.5336 |
3081 | HGD | HCC2 | Human | Liver | HCC | 9.73e-08 | 4.42e+00 | 0.5341 |
3081 | HGD | Pt13.a | Human | Liver | HCC | 8.10e-05 | -1.95e-01 | 0.021 |
3081 | HGD | Pt13.b | Human | Liver | HCC | 1.57e-18 | -1.30e-01 | 0.0251 |
3081 | HGD | Pt13.c | Human | Liver | HCC | 3.64e-04 | -4.79e-01 | 0.0076 |
3081 | HGD | Pt14.a | Human | Liver | HCC | 7.13e-05 | 4.89e-02 | 0.0169 |
3081 | HGD | Pt14.b | Human | Liver | HCC | 1.51e-06 | 1.52e-01 | 0.018 |
3081 | HGD | Pt14.c | Human | Liver | HCC | 1.10e-10 | 9.03e-01 | 0.0054 |
3081 | HGD | Pt14.d | Human | Liver | HCC | 4.54e-06 | -5.33e-02 | 0.0143 |
3081 | HGD | S028 | Human | Liver | HCC | 2.83e-04 | 5.57e-01 | 0.2503 |
3081 | HGD | S029 | Human | Liver | HCC | 4.56e-09 | 9.85e-01 | 0.2581 |
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Tissue | Expression Dynamics | Abbreviation |
Liver | ![]() | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
∗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:001605313 | Breast | IDC | organic acid biosynthetic process | 39/1434 | 316/18723 | 2.13e-03 | 1.99e-02 | 39 |
GO:00071625 | Breast | IDC | negative regulation of cell adhesion | 37/1434 | 303/18723 | 3.27e-03 | 2.75e-02 | 37 |
GO:004639413 | Breast | IDC | carboxylic acid biosynthetic process | 38/1434 | 314/18723 | 3.39e-03 | 2.83e-02 | 38 |
GO:1901163 | Breast | IDC | regulation of trophoblast cell migration | 5/1434 | 16/18723 | 5.59e-03 | 4.07e-02 | 5 |
GO:000609123 | Breast | DCIS | generation of precursor metabolites and energy | 103/1390 | 490/18723 | 1.46e-22 | 1.65e-19 | 103 |
GO:002290023 | Breast | DCIS | electron transport chain | 51/1390 | 175/18723 | 6.01e-18 | 2.62e-15 | 51 |
GO:00075652 | Breast | DCIS | female pregnancy | 37/1390 | 193/18723 | 7.85e-08 | 4.47e-06 | 37 |
GO:00447062 | Breast | DCIS | multi-multicellular organism process | 39/1390 | 220/18723 | 3.05e-07 | 1.46e-05 | 39 |
GO:003297024 | Breast | DCIS | regulation of actin filament-based process | 56/1390 | 397/18723 | 2.50e-06 | 8.74e-05 | 56 |
GO:000166723 | Breast | DCIS | ameboidal-type cell migration | 62/1390 | 475/18723 | 9.60e-06 | 2.56e-04 | 62 |
GO:003295624 | Breast | DCIS | regulation of actin cytoskeleton organization | 48/1390 | 358/18723 | 4.82e-05 | 9.92e-04 | 48 |
GO:005127111 | Breast | DCIS | negative regulation of cellular component movement | 48/1390 | 367/18723 | 8.97e-05 | 1.69e-03 | 48 |
GO:00075662 | Breast | DCIS | embryo implantation | 13/1390 | 53/18723 | 1.00e-04 | 1.82e-03 | 13 |
GO:200014611 | Breast | DCIS | negative regulation of cell motility | 46/1390 | 359/18723 | 2.01e-04 | 3.23e-03 | 46 |
GO:00420632 | Breast | DCIS | gliogenesis | 39/1390 | 301/18723 | 4.76e-04 | 6.25e-03 | 39 |
GO:003033611 | Breast | DCIS | negative regulation of cell migration | 43/1390 | 344/18723 | 5.41e-04 | 6.96e-03 | 43 |
GO:00100012 | Breast | DCIS | glial cell differentiation | 31/1390 | 225/18723 | 6.24e-04 | 7.87e-03 | 31 |
GO:004001311 | Breast | DCIS | negative regulation of locomotion | 47/1390 | 391/18723 | 7.30e-04 | 8.69e-03 | 47 |
GO:001605322 | Breast | DCIS | organic acid biosynthetic process | 38/1390 | 316/18723 | 2.22e-03 | 2.04e-02 | 38 |
GO:000716212 | Breast | DCIS | negative regulation of cell adhesion | 36/1390 | 303/18723 | 3.49e-03 | 2.90e-02 | 36 |
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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 |
HGD | SNV | Missense_Mutation | novel | c.1219N>T | p.Ala407Ser | p.A407S | Q93099 | protein_coding | tolerated(0.66) | benign(0.009) | TCGA-AQ-A54N-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
HGD | SNV | Missense_Mutation | c.30N>G | p.Phe10Leu | p.F10L | Q93099 | protein_coding | tolerated(0.05) | possibly_damaging(0.509) | TCGA-D8-A13Y-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | |
HGD | SNV | Missense_Mutation | c.1226N>T | p.Thr409Ile | p.T409I | Q93099 | protein_coding | deleterious(0) | probably_damaging(0.969) | TCGA-D8-A1XQ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
HGD | SNV | Missense_Mutation | rs756255206 | c.559C>T | p.Arg187Trp | p.R187W | Q93099 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
HGD | SNV | Missense_Mutation | c.229G>A | p.Asp77Asn | p.D77N | Q93099 | protein_coding | tolerated(0.29) | benign(0) | TCGA-DG-A2KK-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | SD | |
HGD | SNV | Missense_Mutation | novel | c.697N>C | p.Trp233Arg | p.W233R | Q93099 | protein_coding | tolerated(0.26) | benign(0.301) | TCGA-DS-A0VN-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
HGD | SNV | Missense_Mutation | novel | c.287N>C | p.Arg96Thr | p.R96T | Q93099 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-MA-AA41-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
HGD | SNV | Missense_Mutation | novel | c.1142C>T | p.Ala381Val | p.A381V | Q93099 | protein_coding | deleterious(0) | possibly_damaging(0.774) | TCGA-AA-3966-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
HGD | SNV | Missense_Mutation | c.173G>T | p.Arg58Ile | p.R58I | Q93099 | protein_coding | deleterious(0) | probably_damaging(0.948) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR | |
HGD | SNV | Missense_Mutation | c.173N>T | p.Arg58Ile | p.R58I | Q93099 | protein_coding | deleterious(0) | probably_damaging(0.948) | TCGA-CA-6718-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | PD |
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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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