GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00085446 | Cervix | CC | epidermis development | 83/2311 | 324/18723 | 3.91e-11 | 8.54e-09 | 83 |
GO:00107206 | Cervix | CC | positive regulation of cell development | 64/2311 | 298/18723 | 5.69e-06 | 1.41e-04 | 64 |
GO:00085449 | Oral cavity | OSCC | epidermis development | 171/7305 | 324/18723 | 2.89e-07 | 4.43e-06 | 171 |
GO:00107209 | Oral cavity | OSCC | positive regulation of cell development | 159/7305 | 298/18723 | 3.06e-07 | 4.66e-06 | 159 |
GO:00063563 | Oral cavity | OSCC | regulation of transcription by RNA polymerase I | 25/7305 | 34/18723 | 4.63e-05 | 3.90e-04 | 25 |
GO:00063601 | Oral cavity | OSCC | transcription by RNA polymerase I | 36/7305 | 55/18723 | 6.42e-05 | 5.22e-04 | 36 |
GO:00459431 | Oral cavity | OSCC | positive regulation of transcription by RNA polymerase I | 18/7305 | 23/18723 | 1.47e-04 | 1.04e-03 | 18 |
GO:000854416 | Oral cavity | LP | epidermis development | 112/4623 | 324/18723 | 3.81e-05 | 5.61e-04 | 112 |
GO:001072014 | Oral cavity | LP | positive regulation of cell development | 93/4623 | 298/18723 | 6.07e-03 | 3.60e-02 | 93 |
GO:000854425 | Skin | cSCC | epidermis development | 131/4864 | 324/18723 | 7.38e-09 | 2.39e-07 | 131 |
GO:00063565 | Skin | cSCC | regulation of transcription by RNA polymerase I | 22/4864 | 34/18723 | 2.33e-06 | 3.77e-05 | 22 |
GO:00063603 | Skin | cSCC | transcription by RNA polymerase I | 30/4864 | 55/18723 | 6.13e-06 | 8.70e-05 | 30 |
GO:00459433 | Skin | cSCC | positive regulation of transcription by RNA polymerase I | 15/4864 | 23/18723 | 8.72e-05 | 8.21e-04 | 15 |
GO:001072016 | Skin | cSCC | positive regulation of cell development | 105/4864 | 298/18723 | 2.30e-04 | 1.89e-03 | 105 |
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 |
BNC1 | insertion | In_Frame_Ins | novel | c.2053_2054insTTAGATCTAGGGTGAGGCCTGAGA | p.Phe684_Ser685insIleArgSerArgValArgProGlu | p.F684_S685insIRSRVRPE | Q01954 | protein_coding | | | TCGA-B6-A0IK-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
BNC1 | insertion | Frame_Shift_Ins | rs766881213 | c.225_226insC | p.Met76HisfsTer17 | p.M76Hfs*17 | Q01954 | protein_coding | | | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD |
BNC1 | SNV | Missense_Mutation | rs377611889 | c.1337N>T | p.Thr446Met | p.T446M | Q01954 | protein_coding | tolerated(0.09) | benign(0.015) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
BNC1 | SNV | Missense_Mutation | novel | c.408N>T | p.Gln136His | p.Q136H | Q01954 | protein_coding | deleterious(0.02) | probably_damaging(0.972) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
BNC1 | SNV | Missense_Mutation | novel | c.1796N>A | p.Gly599Glu | p.G599E | Q01954 | protein_coding | tolerated(0.59) | benign(0.001) | TCGA-EA-A3HS-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
BNC1 | SNV | Missense_Mutation | novel | c.199G>A | p.Ala67Thr | p.A67T | Q01954 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-VS-A9U6-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
BNC1 | SNV | Missense_Mutation | | c.1657A>C | p.Ile553Leu | p.I553L | Q01954 | protein_coding | tolerated(0.42) | benign(0.014) | TCGA-A6-6780-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
BNC1 | SNV | Missense_Mutation | | c.1066C>T | p.Arg356Trp | p.R356W | Q01954 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AA-3660-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
BNC1 | SNV | Missense_Mutation | | c.340N>T | p.Arg114Trp | p.R114W | Q01954 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AA-3695-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
BNC1 | SNV | Missense_Mutation | | c.2264N>A | p.Cys755Tyr | p.C755Y | Q01954 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AA-3715-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |