Tissue | Expression Dynamics | Abbreviation |
Colorectum (GSE201348) | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Colorectum/Becker/DISC1_pca_on_diff_genes.png) | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Colorectum/Chen/DISC1_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Endometrium | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Endometrium/DISC1_pca_on_diff_genes.png) | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
Lung | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Lung/DISC1_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0042176 | Colorectum | AD | regulation of protein catabolic process | 160/3918 | 391/18723 | 1.06e-19 | 7.34e-17 | 160 |
GO:0009896 | Colorectum | AD | positive regulation of catabolic process | 180/3918 | 492/18723 | 4.33e-16 | 1.94e-13 | 180 |
GO:1903362 | Colorectum | AD | regulation of cellular protein catabolic process | 109/3918 | 255/18723 | 2.14e-15 | 6.08e-13 | 109 |
GO:0031331 | Colorectum | AD | positive regulation of cellular catabolic process | 156/3918 | 427/18723 | 4.68e-14 | 1.05e-11 | 156 |
GO:0032535 | Colorectum | AD | regulation of cellular component size | 142/3918 | 383/18723 | 1.74e-13 | 3.41e-11 | 142 |
GO:1903050 | Colorectum | AD | regulation of proteolysis involved in cellular protein catabolic process | 92/3918 | 221/18723 | 2.04e-12 | 3.19e-10 | 92 |
GO:0045732 | Colorectum | AD | positive regulation of protein catabolic process | 92/3918 | 231/18723 | 3.85e-11 | 4.47e-09 | 92 |
GO:0045862 | Colorectum | AD | positive regulation of proteolysis | 129/3918 | 372/18723 | 4.04e-10 | 3.46e-08 | 129 |
GO:0051098 | Colorectum | AD | regulation of binding | 126/3918 | 363/18723 | 6.01e-10 | 4.88e-08 | 126 |
GO:2000058 | Colorectum | AD | regulation of ubiquitin-dependent protein catabolic process | 68/3918 | 164/18723 | 1.82e-09 | 1.31e-07 | 68 |
GO:0010811 | Colorectum | AD | positive regulation of cell-substrate adhesion | 53/3918 | 123/18723 | 2.30e-08 | 1.27e-06 | 53 |
GO:1903364 | Colorectum | AD | positive regulation of cellular protein catabolic process | 62/3918 | 155/18723 | 4.66e-08 | 2.51e-06 | 62 |
GO:0010810 | Colorectum | AD | regulation of cell-substrate adhesion | 81/3918 | 221/18723 | 4.80e-08 | 2.55e-06 | 81 |
GO:0031589 | Colorectum | AD | cell-substrate adhesion | 116/3918 | 363/18723 | 4.68e-07 | 1.76e-05 | 116 |
GO:1903052 | Colorectum | AD | positive regulation of proteolysis involved in cellular protein catabolic process | 53/3918 | 133/18723 | 4.93e-07 | 1.85e-05 | 53 |
GO:2000060 | Colorectum | AD | positive regulation of ubiquitin-dependent protein catabolic process | 44/3918 | 107/18723 | 1.65e-06 | 5.03e-05 | 44 |
GO:0001952 | Colorectum | AD | regulation of cell-matrix adhesion | 50/3918 | 128/18723 | 2.05e-06 | 6.05e-05 | 50 |
GO:0016049 | Colorectum | AD | cell growth | 143/3918 | 482/18723 | 2.83e-06 | 8.09e-05 | 143 |
GO:0043393 | Colorectum | AD | regulation of protein binding | 68/3918 | 196/18723 | 5.17e-06 | 1.34e-04 | 68 |
GO:0001558 | Colorectum | AD | regulation of cell growth | 124/3918 | 414/18723 | 7.67e-06 | 1.86e-04 | 124 |
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 |
DISC1 | SNV | Missense_Mutation | | c.613G>T | p.Ala205Ser | p.A205S | Q9NRI5 | protein_coding | tolerated(0.69) | benign(0.055) | TCGA-A7-A26G-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | SD |
DISC1 | SNV | Missense_Mutation | | c.2300N>C | p.Gln767Pro | p.Q767P | | protein_coding | tolerated(0.29) | probably_damaging(0.935) | TCGA-A8-A08F-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | 5-fluorouracil | CR |
DISC1 | SNV | Missense_Mutation | | c.878C>G | p.Ser293Cys | p.S293C | Q9NRI5 | protein_coding | deleterious(0.04) | probably_damaging(0.964) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
DISC1 | SNV | Missense_Mutation | novel | c.1698N>C | p.Met566Ile | p.M566I | Q9NRI5 | protein_coding | tolerated(0.24) | benign(0.137) | TCGA-AC-A5XS-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | femara | SD |
DISC1 | insertion | In_Frame_Ins | novel | c.981_982insGACCCGCGATGTCTCTCTCAGCCCTTCAGTCTCTTGGCT | p.Asp327_Thr328insAspProArgCysLeuSerGlnProPheSerLeuLeuAla | p.D327_T328insDPRCLSQPFSLLA | Q9NRI5 | protein_coding | | | TCGA-A8-A09E-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | anastrozole | SD |
DISC1 | deletion | Frame_Shift_Del | novel | c.851delG | p.Ser284ThrfsTer59 | p.S284Tfs*59 | Q9NRI5 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
DISC1 | SNV | Missense_Mutation | | c.2002A>G | p.Thr668Ala | p.T668A | | protein_coding | tolerated(0.68) | benign(0.068) | TCGA-C5-A3HE-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |
DISC1 | insertion | Frame_Shift_Ins | novel | c.1976_1977insA | p.Tyr660LeufsTer2 | p.Y660Lfs*2 | Q9NRI5 | protein_coding | | | TCGA-DS-A1OA-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | carboplatin | PD |
DISC1 | insertion | Frame_Shift_Ins | novel | c.1978_1979insTTGAGATT | p.Tyr660PhefsTer57 | p.Y660Ffs*57 | Q9NRI5 | protein_coding | | | TCGA-DS-A1OA-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | carboplatin | PD |
DISC1 | SNV | Missense_Mutation | | c.2339N>T | p.Ser780Ile | p.S780I | | protein_coding | deleterious(0.01) | possibly_damaging(0.839) | TCGA-AA-3672-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |