GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0010769110 | Skin | SCCIS | regulation of cell morphogenesis involved in differentiation | 13/919 | 96/18723 | 8.15e-04 | 1.10e-02 | 13 |
GO:0051438110 | Skin | SCCIS | regulation of ubiquitin-protein transferase activity | 9/919 | 53/18723 | 1.01e-03 | 1.25e-02 | 9 |
GO:005076714 | Skin | SCCIS | regulation of neurogenesis | 32/919 | 364/18723 | 1.08e-03 | 1.32e-02 | 32 |
GO:005196013 | Skin | SCCIS | regulation of nervous system development | 37/919 | 443/18723 | 1.18e-03 | 1.40e-02 | 37 |
GO:0001666112 | Skin | SCCIS | response to hypoxia | 28/919 | 307/18723 | 1.25e-03 | 1.46e-02 | 28 |
GO:190262412 | Skin | SCCIS | positive regulation of neutrophil migration | 6/919 | 28/18723 | 2.05e-03 | 2.11e-02 | 6 |
GO:0031669111 | Skin | SCCIS | cellular response to nutrient levels | 21/919 | 215/18723 | 2.13e-03 | 2.17e-02 | 21 |
GO:0008637111 | Skin | SCCIS | apoptotic mitochondrial changes | 13/919 | 107/18723 | 2.23e-03 | 2.24e-02 | 13 |
GO:0036293112 | Skin | SCCIS | response to decreased oxygen levels | 28/919 | 322/18723 | 2.51e-03 | 2.43e-02 | 28 |
GO:003134618 | Skin | SCCIS | positive regulation of cell projection organization | 30/919 | 353/18723 | 2.54e-03 | 2.44e-02 | 30 |
GO:009706114 | Skin | SCCIS | dendritic spine organization | 11/919 | 84/18723 | 2.63e-03 | 2.48e-02 | 11 |
GO:006099814 | Skin | SCCIS | regulation of dendritic spine development | 9/919 | 61/18723 | 2.77e-03 | 2.60e-02 | 9 |
GO:0070585111 | Skin | SCCIS | protein localization to mitochondrion | 14/919 | 125/18723 | 3.31e-03 | 2.97e-02 | 14 |
GO:0045807110 | Skin | SCCIS | positive regulation of endocytosis | 12/919 | 100/18723 | 3.59e-03 | 3.17e-02 | 12 |
GO:0070482112 | Skin | SCCIS | response to oxygen levels | 29/919 | 347/18723 | 3.77e-03 | 3.27e-02 | 29 |
GO:009917313 | Skin | SCCIS | postsynapse organization | 17/919 | 168/18723 | 3.77e-03 | 3.27e-02 | 17 |
GO:0030100110 | Skin | SCCIS | regulation of endocytosis | 20/919 | 211/18723 | 3.79e-03 | 3.28e-02 | 20 |
GO:009002312 | Skin | SCCIS | positive regulation of neutrophil chemotaxis | 5/919 | 24/18723 | 5.49e-03 | 4.34e-02 | 5 |
GO:009719329 | Skin | cSCC | intrinsic apoptotic signaling pathway | 150/4864 | 288/18723 | 1.76e-21 | 3.34e-19 | 150 |
GO:200123329 | Skin | cSCC | regulation of apoptotic signaling pathway | 173/4864 | 356/18723 | 2.25e-20 | 3.44e-18 | 173 |
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 |
DNM1 | SNV | Missense_Mutation | novel | c.370G>T | p.Val124Phe | p.V124F | Q05193 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A2-A04T-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
DNM1 | SNV | Missense_Mutation | rs755327329 | c.1319N>A | p.Arg440Lys | p.R440K | Q05193 | protein_coding | tolerated(0.19) | benign(0.09) | TCGA-A2-A0CX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
DNM1 | SNV | Missense_Mutation | novel | c.536C>T | p.Ser179Phe | p.S179F | Q05193 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AC-A5XS-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | femara | SD |
DNM1 | SNV | Missense_Mutation | | c.767G>T | p.Arg256Leu | p.R256L | Q05193 | protein_coding | deleterious(0.01) | probably_damaging(0.992) | TCGA-AO-A0J9-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | PD |
DNM1 | SNV | Missense_Mutation | | c.1978G>C | p.Glu660Gln | p.E660Q | Q05193 | protein_coding | deleterious(0.02) | probably_damaging(0.988) | TCGA-B6-A1KF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DNM1 | SNV | Missense_Mutation | rs773857861 | c.1394N>A | p.Arg465Gln | p.R465Q | Q05193 | protein_coding | deleterious(0.03) | possibly_damaging(0.788) | TCGA-C8-A1HG-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DNM1 | SNV | Missense_Mutation | novel | c.623N>G | p.Asp208Gly | p.D208G | Q05193 | protein_coding | deleterious(0) | probably_damaging(0.988) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD |
DNM1 | SNV | Missense_Mutation | | c.1564N>T | p.Arg522Cys | p.R522C | Q05193 | protein_coding | deleterious(0.05) | probably_damaging(0.954) | TCGA-E2-A1LA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD |
DNM1 | SNV | Missense_Mutation | | c.2001N>A | p.Asp667Glu | p.D667E | Q05193 | protein_coding | tolerated(0.1) | probably_damaging(0.989) | TCGA-E2-A1LS-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Cyclophosphamide | SD |
DNM1 | SNV | Missense_Mutation | novel | c.634G>A | p.Glu212Lys | p.E212K | Q05193 | protein_coding | deleterious(0.04) | probably_damaging(0.97) | TCGA-E9-A2JT-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |