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:00160493 | Colorectum | FAP | cell growth | 112/2622 | 482/18723 | 2.40e-08 | 2.30e-06 | 112 |
GO:00019523 | Colorectum | FAP | regulation of cell-matrix adhesion | 42/2622 | 128/18723 | 4.73e-08 | 3.86e-06 | 42 |
GO:00160553 | Colorectum | FAP | Wnt signaling pathway | 104/2622 | 444/18723 | 4.92e-08 | 3.92e-06 | 104 |
GO:01987383 | Colorectum | FAP | cell-cell signaling by wnt | 104/2622 | 446/18723 | 6.26e-08 | 4.54e-06 | 104 |
GO:19033624 | Colorectum | FAP | regulation of cellular protein catabolic process | 68/2622 | 255/18723 | 6.50e-08 | 4.54e-06 | 68 |
GO:00071603 | Colorectum | FAP | cell-matrix adhesion | 63/2622 | 233/18723 | 1.13e-07 | 7.43e-06 | 63 |
GO:00301113 | Colorectum | FAP | regulation of Wnt signaling pathway | 81/2622 | 328/18723 | 1.44e-07 | 9.03e-06 | 81 |
GO:00615643 | Colorectum | FAP | axon development | 106/2622 | 467/18723 | 1.98e-07 | 1.21e-05 | 106 |
GO:00109753 | Colorectum | FAP | regulation of neuron projection development | 102/2622 | 445/18723 | 2.04e-07 | 1.24e-05 | 102 |
GO:00074093 | Colorectum | FAP | axonogenesis | 97/2622 | 418/18723 | 2.20e-07 | 1.30e-05 | 97 |
GO:20000584 | Colorectum | FAP | regulation of ubiquitin-dependent protein catabolic process | 48/2622 | 164/18723 | 2.88e-07 | 1.63e-05 | 48 |
GO:00457324 | Colorectum | FAP | positive regulation of protein catabolic process | 61/2622 | 231/18723 | 4.38e-07 | 2.35e-05 | 61 |
GO:00015583 | Colorectum | FAP | regulation of cell growth | 95/2622 | 414/18723 | 5.02e-07 | 2.61e-05 | 95 |
GO:00459273 | Colorectum | FAP | positive regulation of growth | 66/2622 | 259/18723 | 6.11e-07 | 3.05e-05 | 66 |
GO:00107203 | Colorectum | FAP | positive regulation of cell development | 72/2622 | 298/18723 | 1.67e-06 | 6.99e-05 | 72 |
GO:00313463 | Colorectum | FAP | positive regulation of cell projection organization | 82/2622 | 353/18723 | 1.78e-06 | 7.35e-05 | 82 |
GO:00486392 | Colorectum | FAP | positive regulation of developmental growth | 47/2622 | 174/18723 | 4.55e-06 | 1.52e-04 | 47 |
GO:00457732 | Colorectum | FAP | positive regulation of axon extension | 18/2622 | 42/18723 | 4.93e-06 | 1.61e-04 | 18 |
GO:00019543 | Colorectum | FAP | positive regulation of cell-matrix adhesion | 22/2622 | 58/18723 | 5.19e-06 | 1.68e-04 | 22 |
GO:00600703 | Colorectum | FAP | canonical Wnt signaling pathway | 71/2622 | 303/18723 | 6.23e-06 | 1.96e-04 | 71 |
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 |