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Gene: TCHH |
Gene summary for TCHH |
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Gene information | Species | Human | Gene symbol | TCHH | Gene ID | 7062 |
Gene name | trichohyalin | |
Gene Alias | THH | |
Cytomap | 1q21.3 | |
Gene Type | protein-coding | GO ID | GO:0006996 | UniProtAcc | Q07283 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
7062 | TCHH | LZE4T | Human | Esophagus | ESCC | 1.48e-34 | 1.25e+00 | 0.0811 |
7062 | TCHH | LZE22T | Human | Esophagus | ESCC | 1.54e-04 | 4.15e-01 | 0.068 |
7062 | TCHH | P15T-E | Human | Esophagus | ESCC | 5.62e-30 | 7.97e-01 | 0.1149 |
7062 | TCHH | P17T-E | Human | Esophagus | ESCC | 2.68e-03 | 2.84e-01 | 0.1278 |
7062 | TCHH | P28T-E | Human | Esophagus | ESCC | 5.03e-37 | 6.36e-01 | 0.1149 |
7062 | TCHH | P36T-E | Human | Esophagus | ESCC | 1.47e-14 | 6.33e-01 | 0.1187 |
7062 | TCHH | P84T-E | Human | Esophagus | ESCC | 1.34e-04 | 2.45e-01 | 0.0933 |
7062 | TCHH | C06 | Human | Oral cavity | OSCC | 6.22e-04 | 5.36e-01 | 0.2699 |
7062 | TCHH | C08 | Human | Oral cavity | OSCC | 2.11e-24 | 5.28e-01 | 0.1919 |
7062 | TCHH | SYSMH5 | Human | Oral cavity | OSCC | 4.24e-06 | 2.61e-01 | 0.0647 |
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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:00435888 | Esophagus | ESCC | skin development | 163/8552 | 263/18723 | 6.48e-08 | 1.14e-06 | 163 |
GO:000854410 | Esophagus | ESCC | epidermis development | 193/8552 | 324/18723 | 2.87e-07 | 4.19e-06 | 193 |
GO:000991310 | Esophagus | ESCC | epidermal cell differentiation | 122/8552 | 202/18723 | 1.69e-05 | 1.51e-04 | 122 |
GO:00302167 | Esophagus | ESCC | keratinocyte differentiation | 86/8552 | 139/18723 | 8.53e-05 | 6.19e-04 | 86 |
GO:00451035 | Esophagus | ESCC | intermediate filament-based process | 32/8552 | 52/18723 | 1.55e-02 | 4.97e-02 | 32 |
GO:00435887 | Oral cavity | OSCC | skin development | 143/7305 | 263/18723 | 2.77e-07 | 4.27e-06 | 143 |
GO:00085449 | Oral cavity | OSCC | epidermis development | 171/7305 | 324/18723 | 2.89e-07 | 4.43e-06 | 171 |
GO:00302166 | Oral cavity | OSCC | keratinocyte differentiation | 81/7305 | 139/18723 | 3.16e-06 | 3.81e-05 | 81 |
GO:00099139 | Oral cavity | OSCC | epidermal cell differentiation | 109/7305 | 202/18723 | 1.08e-05 | 1.14e-04 | 109 |
GO:00451044 | Oral cavity | OSCC | intermediate filament cytoskeleton organization | 31/7305 | 51/18723 | 1.34e-03 | 6.62e-03 | 31 |
GO:00451034 | Oral cavity | OSCC | intermediate filament-based process | 31/7305 | 52/18723 | 2.08e-03 | 9.59e-03 | 31 |
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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 |
TCHH | SNV | Missense_Mutation | c.2781N>C | p.Glu927Asp | p.E927D | Q07283 | protein_coding | deleterious_low_confidence(0.02) | benign(0.005) | TCGA-EK-A3GK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
TCHH | SNV | Missense_Mutation | novel | c.1330N>C | p.Glu444Gln | p.E444Q | Q07283 | protein_coding | benign(0.124) | TCGA-EK-A3GK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
TCHH | SNV | Missense_Mutation | c.4248C>A | p.Phe1416Leu | p.F1416L | Q07283 | protein_coding | tolerated_low_confidence(0.1) | benign(0.005) | TCGA-FU-A3HZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
TCHH | SNV | Missense_Mutation | c.524G>T | p.Arg175Leu | p.R175L | Q07283 | protein_coding | tolerated_low_confidence(0.27) | benign(0) | TCGA-FU-A40J-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | carboplatin | CR | |
TCHH | SNV | Missense_Mutation | novel | c.1537N>C | p.Glu513Gln | p.E513Q | Q07283 | protein_coding | benign(0.001) | TCGA-HM-A4S6-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | CR | |
TCHH | SNV | Missense_Mutation | c.3763G>C | p.Asp1255His | p.D1255H | Q07283 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.735) | TCGA-IR-A3LK-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | PD | |
TCHH | SNV | Missense_Mutation | c.319G>C | p.Glu107Gln | p.E107Q | Q07283 | protein_coding | tolerated_low_confidence(0.2) | benign(0.095) | TCGA-IR-A3LK-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | PD | |
TCHH | SNV | Missense_Mutation | c.2578N>G | p.Gln860Glu | p.Q860E | Q07283 | protein_coding | deleterious_low_confidence(0.01) | benign(0.029) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
TCHH | SNV | Missense_Mutation | c.2591N>C | p.Arg864Pro | p.R864P | Q07283 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.916) | TCGA-MA-AA41-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
TCHH | SNV | Missense_Mutation | novel | c.4592N>A | p.Arg1531Lys | p.R1531K | Q07283 | protein_coding | deleterious_low_confidence(0.01) | benign(0.078) | TCGA-VS-A94X-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | 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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