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:000716012 | Lung | AIS | cell-matrix adhesion | 60/1849 | 233/18723 | 2.19e-12 | 2.55e-09 | 60 |
GO:003158913 | Lung | AIS | cell-substrate adhesion | 80/1849 | 363/18723 | 3.80e-12 | 3.16e-09 | 80 |
GO:003133113 | Lung | AIS | positive regulation of cellular catabolic process | 89/1849 | 427/18723 | 6.12e-12 | 4.46e-09 | 89 |
GO:001605512 | Lung | AIS | Wnt signaling pathway | 91/1849 | 444/18723 | 9.38e-12 | 5.47e-09 | 91 |
GO:019873812 | Lung | AIS | cell-cell signaling by wnt | 91/1849 | 446/18723 | 1.22e-11 | 6.13e-09 | 91 |
GO:190336213 | Lung | AIS | regulation of cellular protein catabolic process | 62/1849 | 255/18723 | 1.37e-11 | 6.13e-09 | 62 |
GO:001081013 | Lung | AIS | regulation of cell-substrate adhesion | 55/1849 | 221/18723 | 7.48e-11 | 2.49e-08 | 55 |
GO:000195212 | Lung | AIS | regulation of cell-matrix adhesion | 38/1849 | 128/18723 | 2.93e-10 | 7.42e-08 | 38 |
GO:003011112 | Lung | AIS | regulation of Wnt signaling pathway | 70/1849 | 328/18723 | 3.81e-10 | 8.87e-08 | 70 |
GO:200005813 | Lung | AIS | regulation of ubiquitin-dependent protein catabolic process | 43/1849 | 164/18723 | 1.55e-09 | 2.91e-07 | 43 |
GO:190336413 | Lung | AIS | positive regulation of cellular protein catabolic process | 41/1849 | 155/18723 | 2.79e-09 | 4.92e-07 | 41 |
GO:190305013 | Lung | AIS | regulation of proteolysis involved in cellular protein catabolic process | 51/1849 | 221/18723 | 5.97e-09 | 9.87e-07 | 51 |
GO:004586213 | Lung | AIS | positive regulation of proteolysis | 73/1849 | 372/18723 | 7.68e-09 | 1.21e-06 | 73 |
GO:200006013 | Lung | AIS | positive regulation of ubiquitin-dependent protein catabolic process | 31/1849 | 107/18723 | 2.36e-08 | 3.12e-06 | 31 |
GO:006056012 | Lung | AIS | developmental growth involved in morphogenesis | 51/1849 | 234/18723 | 4.43e-08 | 5.24e-06 | 51 |
GO:006007012 | Lung | AIS | canonical Wnt signaling pathway | 59/1849 | 303/18723 | 2.73e-07 | 2.37e-05 | 59 |
GO:001604912 | Lung | AIS | cell growth | 83/1849 | 482/18723 | 3.26e-07 | 2.79e-05 | 83 |
GO:004578513 | Lung | AIS | positive regulation of cell adhesion | 77/1849 | 437/18723 | 3.40e-07 | 2.83e-05 | 77 |
GO:190305212 | Lung | AIS | positive regulation of proteolysis involved in cellular protein catabolic process | 33/1849 | 133/18723 | 4.82e-07 | 3.65e-05 | 33 |
GO:001635812 | Lung | AIS | dendrite development | 49/1849 | 243/18723 | 9.53e-07 | 6.69e-05 | 49 |
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 |