Tissue | Expression Dynamics | Abbreviation |
Colorectum (GSE201348) | | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Liver | | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Oral Cavity | | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Skin | | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
Thyroid | | ATC: Anaplastic thyroid cancer |
HT: Hashimoto's thyroiditis |
PTC: Papillary thyroid cancer |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0051098 | Colorectum | AD | regulation of binding | 126/3918 | 363/18723 | 6.01e-10 | 4.88e-08 | 126 |
GO:0016049 | Colorectum | AD | cell growth | 143/3918 | 482/18723 | 2.83e-06 | 8.09e-05 | 143 |
GO:0051101 | Colorectum | AD | regulation of DNA binding | 42/3918 | 118/18723 | 1.62e-04 | 2.23e-03 | 42 |
GO:0043122 | Colorectum | AD | regulation of I-kappaB kinase/NF-kappaB signaling | 76/3918 | 249/18723 | 2.17e-04 | 2.85e-03 | 76 |
GO:0010038 | Colorectum | AD | response to metal ion | 106/3918 | 373/18723 | 3.22e-04 | 3.83e-03 | 106 |
GO:0071248 | Colorectum | AD | cellular response to metal ion | 61/3918 | 197/18723 | 5.74e-04 | 6.09e-03 | 61 |
GO:0007249 | Colorectum | AD | I-kappaB kinase/NF-kappaB signaling | 82/3918 | 281/18723 | 6.09e-04 | 6.40e-03 | 82 |
GO:0071241 | Colorectum | AD | cellular response to inorganic substance | 68/3918 | 226/18723 | 6.98e-04 | 7.10e-03 | 68 |
GO:0051100 | Colorectum | AD | negative regulation of binding | 50/3918 | 162/18723 | 1.84e-03 | 1.51e-02 | 50 |
GO:0048588 | Colorectum | AD | developmental cell growth | 67/3918 | 234/18723 | 3.03e-03 | 2.25e-02 | 67 |
GO:0060560 | Colorectum | AD | developmental growth involved in morphogenesis | 66/3918 | 234/18723 | 4.75e-03 | 3.22e-02 | 66 |
GO:00510982 | Colorectum | MSS | regulation of binding | 113/3467 | 363/18723 | 3.55e-09 | 2.41e-07 | 113 |
GO:00431221 | Colorectum | MSS | regulation of I-kappaB kinase/NF-kappaB signaling | 71/3467 | 249/18723 | 7.12e-05 | 1.21e-03 | 71 |
GO:00160492 | Colorectum | MSS | cell growth | 123/3467 | 482/18723 | 7.15e-05 | 1.21e-03 | 123 |
GO:00072491 | Colorectum | MSS | I-kappaB kinase/NF-kappaB signaling | 77/3467 | 281/18723 | 1.51e-04 | 2.19e-03 | 77 |
GO:00511012 | Colorectum | MSS | regulation of DNA binding | 37/3467 | 118/18723 | 5.29e-04 | 5.99e-03 | 37 |
GO:00485881 | Colorectum | MSS | developmental cell growth | 61/3467 | 234/18723 | 2.56e-03 | 2.03e-02 | 61 |
GO:00605601 | Colorectum | MSS | developmental growth involved in morphogenesis | 61/3467 | 234/18723 | 2.56e-03 | 2.03e-02 | 61 |
GO:00100382 | Colorectum | MSS | response to metal ion | 90/3467 | 373/18723 | 3.76e-03 | 2.76e-02 | 90 |
GO:00511002 | Colorectum | MSS | negative regulation of binding | 44/3467 | 162/18723 | 4.26e-03 | 3.04e-02 | 44 |
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 |
CPNE1 | SNV | Missense_Mutation | | c.1263N>A | p.Met421Ile | p.M421I | | protein_coding | tolerated(0.7) | benign(0) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
CPNE1 | SNV | Missense_Mutation | | c.820N>C | p.Glu274Gln | p.E274Q | | protein_coding | tolerated(0.27) | benign(0.007) | TCGA-D8-A147-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine | SD |
CPNE1 | SNV | Missense_Mutation | | c.1000G>A | p.Asp334Asn | p.D334N | | protein_coding | deleterious(0.03) | probably_damaging(0.995) | TCGA-E9-A243-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | PD |
CPNE1 | SNV | Missense_Mutation | novel | c.833N>A | p.Ser278Tyr | p.S278Y | | protein_coding | deleterious(0) | probably_damaging(0.929) | TCGA-LL-A440-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | CR |
CPNE1 | insertion | Frame_Shift_Ins | novel | c.811_812insTGAGACAGAGTCTGGCCCTCTCACCCAGGCTGGAGTGTGGTGGCGTG | p.Cys271LeufsTer19 | p.C271Lfs*19 | | protein_coding | | | TCGA-A1-A0SQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | ac | SD |
CPNE1 | insertion | In_Frame_Ins | novel | c.967_968insGTGCGG | p.Met323delinsSerAlaVal | p.M323delinsSAV | | protein_coding | | | TCGA-AN-A03X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CPNE1 | insertion | Nonsense_Mutation | novel | c.965_966insTTTTTGAGAAAGAGTCTTGCTCTGTCACCCAGGCTG | p.Leu322_Met323insPheTerGluArgValLeuLeuCysHisProGlyTrp | p.L322_M323insF*ERVLLCHPGW | | protein_coding | | | TCGA-AN-A03X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CPNE1 | SNV | Missense_Mutation | novel | c.1086N>C | p.Leu362Phe | p.L362F | | protein_coding | deleterious(0) | possibly_damaging(0.714) | TCGA-DG-A2KM-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
CPNE1 | SNV | Missense_Mutation | | c.550G>A | p.Glu184Lys | p.E184K | | protein_coding | deleterious(0) | probably_damaging(0.98) | TCGA-MU-A5YI-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |
CPNE1 | SNV | Missense_Mutation | | c.841N>C | p.Asp281His | p.D281H | | protein_coding | deleterious(0) | probably_damaging(0.973) | TCGA-AA-3494-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | folinic | PR |