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 |
GC | | CAG: Chronic atrophic gastritis |
CAG with IM: Chronic atrophic gastritis with intestinal metaplasia |
CSG: Chronic superficial gastritis |
GC: Gastric cancer |
SIM: Severe intestinal metaplasia |
WIM: Wild intestinal metaplasia |
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:0007219 | Colorectum | AD | Notch signaling pathway | 50/3918 | 172/18723 | 6.92e-03 | 4.26e-02 | 50 |
GO:0051090 | Colorectum | MSS | regulation of DNA-binding transcription factor activity | 106/3467 | 440/18723 | 1.88e-03 | 1.65e-02 | 106 |
GO:00072191 | Colorectum | FAP | Notch signaling pathway | 38/2622 | 172/18723 | 2.56e-03 | 2.01e-02 | 38 |
GO:00510901 | Colorectum | FAP | regulation of DNA-binding transcription factor activity | 80/2622 | 440/18723 | 7.90e-03 | 4.67e-02 | 80 |
GO:00072192 | Colorectum | CRC | Notch signaling pathway | 36/2078 | 172/18723 | 1.26e-04 | 2.42e-03 | 36 |
GO:00510908 | Esophagus | ESCC | regulation of DNA-binding transcription factor activity | 252/8552 | 440/18723 | 5.22e-07 | 6.97e-06 | 252 |
GO:00072197 | Esophagus | ESCC | Notch signaling pathway | 106/8552 | 172/18723 | 1.74e-05 | 1.55e-04 | 106 |
GO:00434332 | Esophagus | ESCC | negative regulation of DNA-binding transcription factor activity | 103/8552 | 185/18723 | 3.86e-03 | 1.57e-02 | 103 |
GO:00320882 | Esophagus | ESCC | negative regulation of NF-kappaB transcription factor activity | 54/8552 | 93/18723 | 1.08e-02 | 3.67e-02 | 54 |
GO:00510902 | Liver | HCC | regulation of DNA-binding transcription factor activity | 220/7958 | 440/18723 | 8.04e-04 | 4.82e-03 | 220 |
GO:00510907 | Oral cavity | OSCC | regulation of DNA-binding transcription factor activity | 221/7305 | 440/18723 | 9.06e-07 | 1.23e-05 | 221 |
GO:00072196 | Oral cavity | OSCC | Notch signaling pathway | 92/7305 | 172/18723 | 7.84e-05 | 6.08e-04 | 92 |
GO:0032088 | Oral cavity | OSCC | negative regulation of NF-kappaB transcription factor activity | 47/7305 | 93/18723 | 1.55e-02 | 4.99e-02 | 47 |
GO:005109015 | Oral cavity | LP | regulation of DNA-binding transcription factor activity | 147/4623 | 440/18723 | 2.00e-05 | 3.35e-04 | 147 |
GO:0043433 | Oral cavity | LP | negative regulation of DNA-binding transcription factor activity | 61/4623 | 185/18723 | 6.68e-03 | 3.89e-02 | 61 |
GO:000721913 | Oral cavity | LP | Notch signaling pathway | 57/4623 | 172/18723 | 7.60e-03 | 4.18e-02 | 57 |
GO:000721922 | Skin | cSCC | Notch signaling pathway | 60/4864 | 172/18723 | 5.82e-03 | 2.87e-02 | 60 |
GO:0032677 | Stomach | CAG | regulation of interleukin-8 production | 10/552 | 102/18723 | 8.58e-04 | 1.28e-02 | 10 |
GO:0032637 | Stomach | CAG | interleukin-8 production | 10/552 | 103/18723 | 9.26e-04 | 1.37e-02 | 10 |
GO:00326771 | Stomach | WIM | regulation of interleukin-8 production | 9/426 | 102/18723 | 5.32e-04 | 9.21e-03 | 9 |
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 |
ANXA4 | SNV | Missense_Mutation | rs144504684 | c.353N>A | p.Arg118Gln | p.R118Q | P09525 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A5-A0VP-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ANXA4 | SNV | Missense_Mutation | novel | c.872N>A | p.Arg291Lys | p.R291K | P09525 | protein_coding | tolerated(1) | benign(0) | TCGA-A5-A2K5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ANXA4 | SNV | Missense_Mutation | rs761374777 | c.152N>A | p.Arg51His | p.R51H | P09525 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-AJ-A3EK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
ANXA4 | SNV | Missense_Mutation | rs765123505 | c.896N>T | p.Ser299Leu | p.S299L | P09525 | protein_coding | deleterious(0.01) | probably_damaging(0.976) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
ANXA4 | SNV | Missense_Mutation | rs770362785 | c.374N>A | p.Arg125His | p.R125H | P09525 | protein_coding | deleterious(0.05) | benign(0.001) | TCGA-B5-A11E-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ANXA4 | SNV | Missense_Mutation | novel | c.817G>A | p.Val273Met | p.V273M | P09525 | protein_coding | deleterious(0) | possibly_damaging(0.678) | TCGA-B5-A1MX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Hormone Therapy | megace | SD |
ANXA4 | SNV | Missense_Mutation | novel | c.586C>A | p.Leu196Ile | p.L196I | P09525 | protein_coding | tolerated(1) | possibly_damaging(0.886) | TCGA-BS-A0UV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
ANXA4 | SNV | Missense_Mutation | rs774375672 | c.856C>T | p.Arg286Trp | p.R286W | P09525 | protein_coding | deleterious(0) | probably_damaging(0.97) | TCGA-D1-A16X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ANXA4 | SNV | Missense_Mutation | rs865798673 | c.235G>A | p.Glu79Lys | p.E79K | P09525 | protein_coding | deleterious(0.05) | possibly_damaging(0.776) | TCGA-D1-A17Q-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ANXA4 | SNV | Missense_Mutation | novel | c.952N>A | p.Gly318Arg | p.G318R | P09525 | protein_coding | deleterious(0.01) | probably_damaging(0.999) | TCGA-EY-A1GU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |