GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00305162 | Colorectum | FAP | regulation of axon extension | 29/2622 | 95/18723 | 2.58e-05 | 5.98e-04 | 29 |
GO:19901381 | Colorectum | FAP | neuron projection extension | 44/2622 | 172/18723 | 3.89e-05 | 8.31e-04 | 44 |
GO:00995631 | Colorectum | FAP | modification of synaptic structure | 11/2622 | 22/18723 | 6.30e-05 | 1.22e-03 | 11 |
GO:00902574 | Colorectum | FAP | regulation of muscle system process | 58/2622 | 252/18723 | 7.22e-05 | 1.33e-03 | 58 |
GO:00990101 | Colorectum | FAP | modification of postsynaptic structure | 9/2622 | 16/18723 | 9.19e-05 | 1.59e-03 | 9 |
GO:00991733 | Colorectum | FAP | postsynapse organization | 42/2622 | 168/18723 | 1.01e-04 | 1.70e-03 | 42 |
GO:00083612 | Colorectum | FAP | regulation of cell size | 44/2622 | 181/18723 | 1.40e-04 | 2.21e-03 | 44 |
GO:00324092 | Colorectum | FAP | regulation of transporter activity | 67/2622 | 310/18723 | 1.59e-04 | 2.43e-03 | 67 |
GO:0061387 | Colorectum | FAP | regulation of extent of cell growth | 30/2622 | 110/18723 | 1.89e-04 | 2.76e-03 | 30 |
GO:20012334 | Colorectum | FAP | regulation of apoptotic signaling pathway | 74/2622 | 356/18723 | 2.65e-04 | 3.60e-03 | 74 |
GO:19030083 | Colorectum | FAP | organelle disassembly | 30/2622 | 114/18723 | 3.71e-04 | 4.63e-03 | 30 |
GO:00439543 | Colorectum | FAP | cellular component maintenance | 19/2622 | 61/18723 | 4.61e-04 | 5.39e-03 | 19 |
GO:00030122 | Colorectum | FAP | muscle system process | 89/2622 | 452/18723 | 4.63e-04 | 5.39e-03 | 89 |
GO:00004224 | Colorectum | FAP | autophagy of mitochondrion | 23/2622 | 81/18723 | 5.48e-04 | 6.15e-03 | 23 |
GO:00617264 | Colorectum | FAP | mitochondrion disassembly | 23/2622 | 81/18723 | 5.48e-04 | 6.15e-03 | 23 |
GO:00108213 | Colorectum | FAP | regulation of mitochondrion organization | 35/2622 | 144/18723 | 6.44e-04 | 7.05e-03 | 35 |
GO:00510512 | Colorectum | FAP | negative regulation of transport | 91/2622 | 470/18723 | 7.09e-04 | 7.64e-03 | 91 |
GO:1905244 | Colorectum | FAP | regulation of modification of synaptic structure | 7/2622 | 13/18723 | 8.27e-04 | 8.64e-03 | 7 |
GO:00508071 | Colorectum | FAP | regulation of synapse organization | 46/2622 | 211/18723 | 1.30e-03 | 1.20e-02 | 46 |
GO:0050803 | Colorectum | FAP | regulation of synapse structure or activity | 46/2622 | 218/18723 | 2.59e-03 | 2.03e-02 | 46 |
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 |
TTN | SNV | Missense_Mutation | rs557526069 | c.35041G>A | p.Glu11681Lys | p.E11681K | | protein_coding | | | TCGA-3C-AALI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Poly E | Complete Response |
TTN | SNV | Missense_Mutation | novel | c.31372N>C | p.Val10458Leu | p.V10458L | | protein_coding | | | TCGA-3C-AALJ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
TTN | SNV | Missense_Mutation | | c.69142N>A | p.Glu23048Lys | p.E23048K | | protein_coding | | | TCGA-5L-AAT0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
TTN | SNV | Missense_Mutation | novel | c.105331G>C | p.Glu35111Gln | p.E35111Q | | protein_coding | | | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
TTN | SNV | Missense_Mutation | novel | c.91713G>A | p.Met30571Ile | p.M30571I | | protein_coding | | | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
TTN | SNV | Missense_Mutation | | c.31520A>T | p.Glu10507Val | p.E10507V | | protein_coding | | | TCGA-A1-A0SO-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | | SD |
TTN | SNV | Missense_Mutation | novel | c.43021N>A | p.Glu14341Lys | p.E14341K | | protein_coding | | | TCGA-A2-A04P-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | taxol | PD |
TTN | SNV | Missense_Mutation | | c.58960N>T | p.Val19654Phe | p.V19654F | | protein_coding | | | TCGA-A2-A04R-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxol | SD |
TTN | SNV | Missense_Mutation | novel | c.38183N>T | p.Lys12728Ile | p.K12728I | | protein_coding | | | TCGA-A2-A04R-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxol | SD |
TTN | SNV | Missense_Mutation | novel | c.10739C>G | p.Ala3580Gly | p.A3580G | | protein_coding | | | TCGA-A2-A0CU-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |