GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0051604 | Colorectum | AD | protein maturation | 85/3918 | 294/18723 | 6.73e-04 | 6.91e-03 | 85 |
GO:0007178 | Colorectum | AD | transmembrane receptor protein serine/threonine kinase signaling pathway | 99/3918 | 355/18723 | 9.92e-04 | 9.28e-03 | 99 |
GO:0016485 | Colorectum | AD | protein processing | 63/3918 | 225/18723 | 6.77e-03 | 4.19e-02 | 63 |
GO:00516041 | Colorectum | SER | protein maturation | 73/2897 | 294/18723 | 1.82e-05 | 5.38e-04 | 73 |
GO:00164851 | Colorectum | SER | protein processing | 55/2897 | 225/18723 | 2.84e-04 | 4.67e-03 | 55 |
GO:00516042 | Colorectum | MSS | protein maturation | 75/3467 | 294/18723 | 1.70e-03 | 1.53e-02 | 75 |
GO:00071781 | Colorectum | MSS | transmembrane receptor protein serine/threonine kinase signaling pathway | 86/3467 | 355/18723 | 4.04e-03 | 2.95e-02 | 86 |
GO:00164852 | Colorectum | MSS | protein processing | 57/3467 | 225/18723 | 6.60e-03 | 4.38e-02 | 57 |
GO:00071782 | Colorectum | FAP | transmembrane receptor protein serine/threonine kinase signaling pathway | 81/2622 | 355/18723 | 4.28e-06 | 1.46e-04 | 81 |
GO:0071772 | Colorectum | FAP | response to BMP | 37/2622 | 165/18723 | 2.20e-03 | 1.80e-02 | 37 |
GO:0071773 | Colorectum | FAP | cellular response to BMP stimulus | 37/2622 | 165/18723 | 2.20e-03 | 1.80e-02 | 37 |
GO:0090092 | Colorectum | FAP | regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 52/2622 | 256/18723 | 3.33e-03 | 2.44e-02 | 52 |
GO:0030509 | Colorectum | FAP | BMP signaling pathway | 34/2622 | 152/18723 | 3.38e-03 | 2.47e-02 | 34 |
GO:0009952 | Colorectum | FAP | anterior/posterior pattern specification | 41/2622 | 201/18723 | 7.82e-03 | 4.63e-02 | 41 |
GO:00071783 | Colorectum | CRC | transmembrane receptor protein serine/threonine kinase signaling pathway | 66/2078 | 355/18723 | 1.74e-05 | 5.28e-04 | 66 |
GO:00305091 | Colorectum | CRC | BMP signaling pathway | 31/2078 | 152/18723 | 5.73e-04 | 7.89e-03 | 31 |
GO:00900921 | Colorectum | CRC | regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 46/2078 | 256/18723 | 6.66e-04 | 8.77e-03 | 46 |
GO:00717721 | Colorectum | CRC | response to BMP | 32/2078 | 165/18723 | 1.16e-03 | 1.33e-02 | 32 |
GO:00717731 | Colorectum | CRC | cellular response to BMP stimulus | 32/2078 | 165/18723 | 1.16e-03 | 1.33e-02 | 32 |
GO:00099521 | Colorectum | CRC | anterior/posterior pattern specification | 36/2078 | 201/18723 | 2.56e-03 | 2.40e-02 | 36 |
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 |
PCSK6 | SNV | Missense_Mutation | rs763383424 | c.490N>G | p.Ile164Val | p.I164V | P29122 | protein_coding | tolerated(1) | benign(0.012) | TCGA-AX-A063-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PCSK6 | SNV | Missense_Mutation | novel | c.2303N>A | p.Arg768His | p.R768H | P29122 | protein_coding | deleterious(0.01) | benign(0.007) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
PCSK6 | SNV | Missense_Mutation | rs367969161 | c.1634G>A | p.Arg545His | p.R545H | P29122 | protein_coding | deleterious(0) | benign(0.375) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
PCSK6 | SNV | Missense_Mutation | novel | c.416N>G | p.Gln139Arg | p.Q139R | P29122 | protein_coding | deleterious(0) | possibly_damaging(0.679) | TCGA-AX-A2HA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PCSK6 | SNV | Missense_Mutation | novel | c.1190N>T | p.Ala397Val | p.A397V | P29122 | protein_coding | tolerated(0.06) | probably_damaging(0.999) | TCGA-AX-A2HD-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
PCSK6 | SNV | Missense_Mutation | novel | c.1705C>G | p.Gln569Glu | p.Q569E | P29122 | protein_coding | deleterious(0.04) | benign(0.397) | TCGA-AX-A2IO-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | SD |
PCSK6 | SNV | Missense_Mutation | | c.1473N>T | p.Lys491Asn | p.K491N | P29122 | protein_coding | deleterious(0) | possibly_damaging(0.526) | TCGA-B5-A0JY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
PCSK6 | SNV | Missense_Mutation | novel | c.1813N>A | p.Glu605Lys | p.E605K | P29122 | protein_coding | tolerated(0.14) | probably_damaging(0.999) | TCGA-B5-A1MX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Hormone Therapy | megace | SD |
PCSK6 | SNV | Missense_Mutation | rs373433666 | c.535N>T | p.Arg179Cys | p.R179C | P29122 | protein_coding | tolerated(0.18) | probably_damaging(0.993) | TCGA-B5-A3FA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PCSK6 | SNV | Missense_Mutation | rs372437062 | c.2672N>T | p.Pro891Leu | p.P891L | P29122 | protein_coding | tolerated(0.43) | possibly_damaging(0.632) | TCGA-B5-A3FC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
5046 | PCSK6 | PROTEASE, DRUGGABLE GENOME, ENZYME, CELL SURFACE | inhibitor | 252166858 | | |
5046 | PCSK6 | PROTEASE, DRUGGABLE GENOME, ENZYME, CELL SURFACE | inhibitor | 178103178 | | |
5046 | PCSK6 | PROTEASE, DRUGGABLE GENOME, ENZYME, CELL SURFACE | inhibitor | 252166848 | | |
5046 | PCSK6 | PROTEASE, DRUGGABLE GENOME, ENZYME, CELL SURFACE | inhibitor | 252166868 | | |