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Gene: TBC1D2 |
Gene summary for TBC1D2 |
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Gene information | Species | Human | Gene symbol | TBC1D2 | Gene ID | 55357 |
Gene name | TBC1 domain family member 2 | |
Gene Alias | PARIS-1 | |
Cytomap | 9q22.33 | |
Gene Type | protein-coding | GO ID | GO:0006810 | UniProtAcc | Q9BYX2 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
55357 | TBC1D2 | CCI_1 | Human | Cervix | CC | 7.08e-04 | 6.98e-01 | 0.528 |
55357 | TBC1D2 | CCI_2 | Human | Cervix | CC | 1.96e-06 | 8.40e-01 | 0.5249 |
55357 | TBC1D2 | CCI_3 | Human | Cervix | CC | 1.09e-14 | 9.99e-01 | 0.516 |
55357 | TBC1D2 | LZE4T | Human | Esophagus | ESCC | 2.06e-12 | 3.52e-01 | 0.0811 |
55357 | TBC1D2 | LZE7T | Human | Esophagus | ESCC | 2.63e-02 | 1.61e-01 | 0.0667 |
55357 | TBC1D2 | LZE8T | Human | Esophagus | ESCC | 4.68e-03 | 1.49e-01 | 0.067 |
55357 | TBC1D2 | LZE22T | Human | Esophagus | ESCC | 7.62e-05 | 2.84e-01 | 0.068 |
55357 | TBC1D2 | LZE24T | Human | Esophagus | ESCC | 1.67e-15 | 5.19e-01 | 0.0596 |
55357 | TBC1D2 | LZE21T | Human | Esophagus | ESCC | 1.22e-05 | 4.42e-01 | 0.0655 |
55357 | TBC1D2 | P1T-E | Human | Esophagus | ESCC | 2.45e-05 | 2.93e-01 | 0.0875 |
55357 | TBC1D2 | P2T-E | Human | Esophagus | ESCC | 2.91e-02 | 8.07e-02 | 0.1177 |
55357 | TBC1D2 | P4T-E | Human | Esophagus | ESCC | 2.12e-16 | 2.64e-01 | 0.1323 |
55357 | TBC1D2 | P5T-E | Human | Esophagus | ESCC | 2.31e-17 | 1.44e-01 | 0.1327 |
55357 | TBC1D2 | P8T-E | Human | Esophagus | ESCC | 2.74e-07 | 1.37e-01 | 0.0889 |
55357 | TBC1D2 | P9T-E | Human | Esophagus | ESCC | 4.12e-15 | 3.74e-01 | 0.1131 |
55357 | TBC1D2 | P10T-E | Human | Esophagus | ESCC | 1.66e-15 | 7.22e-02 | 0.116 |
55357 | TBC1D2 | P11T-E | Human | Esophagus | ESCC | 3.46e-14 | 8.77e-01 | 0.1426 |
55357 | TBC1D2 | P12T-E | Human | Esophagus | ESCC | 5.53e-11 | 1.16e-01 | 0.1122 |
55357 | TBC1D2 | P15T-E | Human | Esophagus | ESCC | 5.06e-19 | 3.85e-01 | 0.1149 |
55357 | TBC1D2 | P16T-E | Human | Esophagus | ESCC | 2.24e-06 | -1.22e-02 | 0.1153 |
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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). |
Page: 1 2 3 4 5 6 7 8 9 |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00430877 | Cervix | CC | regulation of GTPase activity | 79/2311 | 348/18723 | 4.21e-08 | 2.60e-06 | 79 |
GO:00435476 | Cervix | CC | positive regulation of GTPase activity | 53/2311 | 255/18723 | 8.72e-05 | 1.16e-03 | 53 |
GO:0043087 | Colorectum | AD | regulation of GTPase activity | 110/3918 | 348/18723 | 1.64e-06 | 5.03e-05 | 110 |
GO:0043547 | Colorectum | AD | positive regulation of GTPase activity | 75/3918 | 255/18723 | 7.95e-04 | 7.91e-03 | 75 |
GO:00430872 | Colorectum | MSS | regulation of GTPase activity | 101/3467 | 348/18723 | 1.00e-06 | 3.46e-05 | 101 |
GO:00435471 | Colorectum | MSS | positive regulation of GTPase activity | 68/3467 | 255/18723 | 7.97e-04 | 8.38e-03 | 68 |
GO:00430873 | Colorectum | FAP | regulation of GTPase activity | 85/2622 | 348/18723 | 1.20e-07 | 7.68e-06 | 85 |
GO:00435472 | Colorectum | FAP | positive regulation of GTPase activity | 61/2622 | 255/18723 | 1.39e-05 | 3.73e-04 | 61 |
GO:0090630 | Colorectum | FAP | activation of GTPase activity | 27/2622 | 115/18723 | 4.23e-03 | 2.90e-02 | 27 |
GO:00430874 | Colorectum | CRC | regulation of GTPase activity | 69/2078 | 348/18723 | 1.11e-06 | 6.69e-05 | 69 |
GO:00435473 | Colorectum | CRC | positive regulation of GTPase activity | 49/2078 | 255/18723 | 8.67e-05 | 1.77e-03 | 49 |
GO:00430878 | Endometrium | AEH | regulation of GTPase activity | 66/2100 | 348/18723 | 1.26e-05 | 2.77e-04 | 66 |
GO:00435477 | Endometrium | AEH | positive regulation of GTPase activity | 48/2100 | 255/18723 | 2.18e-04 | 2.67e-03 | 48 |
GO:00906304 | Endometrium | AEH | activation of GTPase activity | 22/2100 | 115/18723 | 8.42e-03 | 4.60e-02 | 22 |
GO:004308712 | Endometrium | EEC | regulation of GTPase activity | 67/2168 | 348/18723 | 1.84e-05 | 3.43e-04 | 67 |
GO:004354712 | Endometrium | EEC | positive regulation of GTPase activity | 50/2168 | 255/18723 | 1.26e-04 | 1.66e-03 | 50 |
GO:009063012 | Endometrium | EEC | activation of GTPase activity | 23/2168 | 115/18723 | 6.04e-03 | 3.57e-02 | 23 |
GO:004819318 | Esophagus | ESCC | Golgi vesicle transport | 231/8552 | 296/18723 | 1.82e-30 | 9.63e-28 | 231 |
GO:0016032111 | Esophagus | ESCC | viral process | 301/8552 | 415/18723 | 3.34e-29 | 1.32e-26 | 301 |
GO:001623617 | Esophagus | ESCC | macroautophagy | 216/8552 | 291/18723 | 1.94e-23 | 4.57e-21 | 216 |
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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 |
TBC1D2 | SNV | Missense_Mutation | novel | c.55N>C | p.Glu19Gln | p.E19Q | Q9BYX2 | protein_coding | tolerated(0.07) | benign(0.097) | TCGA-VS-A958-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
TBC1D2 | SNV | Missense_Mutation | c.1015N>A | p.Ala339Thr | p.A339T | Q9BYX2 | protein_coding | deleterious(0) | possibly_damaging(0.795) | TCGA-A6-3809-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
TBC1D2 | SNV | Missense_Mutation | rs767720149 | c.1849N>A | p.Glu617Lys | p.E617K | Q9BYX2 | protein_coding | deleterious(0) | possibly_damaging(0.869) | TCGA-A6-5661-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TBC1D2 | SNV | Missense_Mutation | c.2383G>A | p.Val795Met | p.V795M | Q9BYX2 | protein_coding | deleterious(0) | probably_damaging(0.957) | TCGA-AA-3952-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | PD | |
TBC1D2 | SNV | Missense_Mutation | rs757691025 | c.857G>A | p.Arg286His | p.R286H | Q9BYX2 | protein_coding | tolerated(0.14) | benign(0) | TCGA-AA-3984-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TBC1D2 | SNV | Missense_Mutation | rs778599566 | c.1985G>A | p.Arg662His | p.R662H | Q9BYX2 | protein_coding | tolerated(0.56) | benign(0.003) | TCGA-AA-A022-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TBC1D2 | SNV | Missense_Mutation | novel | c.2617T>C | p.Phe873Leu | p.F873L | Q9BYX2 | protein_coding | deleterious(0.03) | benign(0.023) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
TBC1D2 | SNV | Missense_Mutation | novel | c.321G>T | p.Glu107Asp | p.E107D | Q9BYX2 | protein_coding | tolerated(0.29) | benign(0) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
TBC1D2 | SNV | Missense_Mutation | c.1652G>A | p.Ser551Asn | p.S551N | Q9BYX2 | protein_coding | tolerated(0.45) | benign(0.109) | TCGA-WS-AB45-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
TBC1D2 | SNV | Missense_Mutation | c.2635N>T | p.Arg879Trp | p.R879W | Q9BYX2 | protein_coding | deleterious(0.02) | benign(0.062) | TCGA-AG-A002-01 | Colorectum | rectum adenocarcinoma | Male | <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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