GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:003295628 | Skin | AK | regulation of actin cytoskeleton organization | 66/1910 | 358/18723 | 1.40e-06 | 4.26e-05 | 66 |
GO:007147810 | Skin | AK | cellular response to radiation | 41/1910 | 186/18723 | 1.53e-06 | 4.61e-05 | 41 |
GO:01501179 | Skin | AK | positive regulation of cell-substrate junction organization | 14/1910 | 33/18723 | 1.58e-06 | 4.73e-05 | 14 |
GO:009026317 | Skin | AK | positive regulation of canonical Wnt signaling pathway | 28/1910 | 106/18723 | 1.73e-06 | 5.13e-05 | 28 |
GO:000756826 | Skin | AK | aging | 63/1910 | 339/18723 | 1.83e-06 | 5.42e-05 | 63 |
GO:190495126 | Skin | AK | positive regulation of establishment of protein localization | 60/1910 | 319/18723 | 2.14e-06 | 6.12e-05 | 60 |
GO:000155820 | Skin | AK | regulation of cell growth | 73/1910 | 414/18723 | 2.21e-06 | 6.27e-05 | 73 |
GO:007156010 | Skin | AK | cellular response to transforming growth factor beta stimulus | 50/1910 | 250/18723 | 2.45e-06 | 6.76e-05 | 50 |
GO:005101728 | Skin | AK | actin filament bundle assembly | 36/1910 | 157/18723 | 2.48e-06 | 6.76e-05 | 36 |
GO:190188815 | Skin | AK | regulation of cell junction assembly | 43/1910 | 204/18723 | 2.99e-06 | 7.93e-05 | 43 |
GO:000931420 | Skin | AK | response to radiation | 78/1910 | 456/18723 | 3.32e-06 | 8.59e-05 | 78 |
GO:005140319 | Skin | AK | stress-activated MAPK cascade | 48/1910 | 239/18723 | 3.43e-06 | 8.82e-05 | 48 |
GO:003287218 | Skin | AK | regulation of stress-activated MAPK cascade | 41/1910 | 192/18723 | 3.57e-06 | 8.96e-05 | 41 |
GO:006056016 | Skin | AK | developmental growth involved in morphogenesis | 47/1910 | 234/18723 | 4.30e-06 | 1.05e-04 | 47 |
GO:006157228 | Skin | AK | actin filament bundle organization | 36/1910 | 161/18723 | 4.59e-06 | 1.10e-04 | 36 |
GO:007030218 | Skin | AK | regulation of stress-activated protein kinase signaling cascade | 41/1910 | 195/18723 | 5.36e-06 | 1.24e-04 | 41 |
GO:011005328 | Skin | AK | regulation of actin filament organization | 53/1910 | 278/18723 | 5.48e-06 | 1.26e-04 | 53 |
GO:190370625 | Skin | AK | regulation of hemopoiesis | 65/1910 | 367/18723 | 6.74e-06 | 1.52e-04 | 65 |
GO:00518949 | Skin | AK | positive regulation of focal adhesion assembly | 12/1910 | 28/18723 | 7.83e-06 | 1.72e-04 | 12 |
GO:005122226 | Skin | AK | positive regulation of protein transport | 56/1910 | 303/18723 | 7.96e-06 | 1.74e-04 | 56 |
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 |
RP1 | SNV | Missense_Mutation | novel | c.81G>C | p.Leu27Phe | p.L27F | P56715 | protein_coding | tolerated(0.65) | benign(0.007) | TCGA-3C-AALI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Poly E | Complete Response |
RP1 | SNV | Missense_Mutation | rs747714373 | c.2978C>G | p.Ser993Cys | p.S993C | P56715 | protein_coding | deleterious(0.02) | possibly_damaging(0.781) | TCGA-5L-AAT0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
RP1 | SNV | Missense_Mutation | | c.4362C>A | p.Ser1454Arg | p.S1454R | P56715 | protein_coding | deleterious(0) | probably_damaging(0.968) | TCGA-A2-A0CW-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |
RP1 | SNV | Missense_Mutation | novel | c.1138N>T | p.Pro380Ser | p.P380S | | protein_coding | deleterious(0.04) | probably_damaging(0.923) | TCGA-A2-A3XV-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
RP1 | SNV | Missense_Mutation | novel | c.983N>G | p.Lys328Arg | p.K328R | | protein_coding | deleterious(0.01) | probably_damaging(0.994) | TCGA-A7-A4SF-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
RP1 | SNV | Missense_Mutation | | c.2516N>C | p.Gln839Pro | p.Q839P | P56715 | protein_coding | deleterious(0.03) | possibly_damaging(0.641) | TCGA-A8-A06X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RP1 | SNV | Missense_Mutation | novel | c.4466C>T | p.Ala1489Val | p.A1489V | P56715 | protein_coding | tolerated(0.22) | benign(0.01) | TCGA-A8-A092-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | CR |
RP1 | SNV | Missense_Mutation | | c.2675N>T | p.Ala892Val | p.A892V | P56715 | protein_coding | tolerated(0.14) | benign(0.039) | TCGA-A8-A09B-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | 5-fluorouracil | SD |
RP1 | SNV | Missense_Mutation | | c.1895N>T | p.Ser632Leu | p.S632L | P56715 | protein_coding | tolerated(0.2) | benign(0.042) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
RP1 | SNV | Missense_Mutation | | c.4027N>A | p.Asp1343Asn | p.D1343N | P56715 | protein_coding | tolerated(0.07) | benign(0) | TCGA-AN-A041-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |