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 |
Lung | | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
Oral Cavity | | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
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:00458602 | Colorectum | MSS | positive regulation of protein kinase activity | 102/3467 | 386/18723 | 6.93e-05 | 1.20e-03 | 102 |
GO:20010202 | Colorectum | MSS | regulation of response to DNA damage stimulus | 64/3467 | 219/18723 | 7.20e-05 | 1.21e-03 | 64 |
GO:19039002 | Colorectum | MSS | regulation of viral life cycle | 47/3467 | 148/18723 | 7.20e-05 | 1.21e-03 | 47 |
GO:00063252 | Colorectum | MSS | chromatin organization | 107/3467 | 409/18723 | 7.22e-05 | 1.21e-03 | 107 |
GO:00075681 | Colorectum | MSS | aging | 90/3467 | 339/18723 | 1.51e-04 | 2.19e-03 | 90 |
GO:00450691 | Colorectum | MSS | regulation of viral genome replication | 30/3467 | 85/18723 | 1.81e-04 | 2.57e-03 | 30 |
GO:00719002 | Colorectum | MSS | regulation of protein serine/threonine kinase activity | 93/3467 | 359/18723 | 2.98e-04 | 3.91e-03 | 93 |
GO:0033143 | Colorectum | MSS | regulation of intracellular steroid hormone receptor signaling pathway | 26/3467 | 74/18723 | 5.15e-04 | 5.97e-03 | 26 |
GO:00511012 | Colorectum | MSS | regulation of DNA binding | 37/3467 | 118/18723 | 5.29e-04 | 5.99e-03 | 37 |
GO:00331442 | Colorectum | MSS | negative regulation of intracellular steroid hormone receptor signaling pathway | 16/3467 | 38/18723 | 6.47e-04 | 7.06e-03 | 16 |
GO:0016570 | Colorectum | MSS | histone modification | 113/3467 | 463/18723 | 8.37e-04 | 8.68e-03 | 113 |
GO:00510912 | Colorectum | MSS | positive regulation of DNA-binding transcription factor activity | 69/3467 | 260/18723 | 8.44e-04 | 8.71e-03 | 69 |
GO:00181052 | Colorectum | MSS | peptidyl-serine phosphorylation | 81/3467 | 315/18723 | 8.92e-04 | 9.12e-03 | 81 |
GO:20010221 | Colorectum | MSS | positive regulation of response to DNA damage stimulus | 33/3467 | 105/18723 | 9.83e-04 | 9.86e-03 | 33 |
GO:00719021 | Colorectum | MSS | positive regulation of protein serine/threonine kinase activity | 55/3467 | 200/18723 | 1.12e-03 | 1.11e-02 | 55 |
GO:00358211 | Colorectum | MSS | modulation of process of other organism | 33/3467 | 106/18723 | 1.18e-03 | 1.14e-02 | 33 |
GO:00714812 | Colorectum | MSS | cellular response to X-ray | 8/3467 | 14/18723 | 1.42e-03 | 1.32e-02 | 8 |
GO:0051090 | Colorectum | MSS | regulation of DNA-binding transcription factor activity | 106/3467 | 440/18723 | 1.88e-03 | 1.65e-02 | 106 |
GO:00062821 | Colorectum | MSS | regulation of DNA repair | 38/3467 | 130/18723 | 1.93e-03 | 1.67e-02 | 38 |
GO:00182091 | Colorectum | MSS | peptidyl-serine modification | 84/3467 | 338/18723 | 2.12e-03 | 1.79e-02 | 84 |
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 |
HMGA2 | SNV | Missense_Mutation | novel | c.421N>C | p.Ser141Pro | p.S141P | | protein_coding | deleterious_low_confidence(0.01) | benign(0.346) | TCGA-A2-A04R-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxol | SD |
HMGA2 | SNV | Missense_Mutation | novel | c.319N>A | p.Glu107Lys | p.E107K | P52926 | protein_coding | deleterious(0.01) | possibly_damaging(0.905) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
HMGA2 | SNV | Missense_Mutation | novel | c.310N>A | p.Glu104Lys | p.E104K | P52926 | protein_coding | tolerated(0.27) | possibly_damaging(0.899) | TCGA-Q1-A5R2-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PR |
HMGA2 | deletion | Frame_Shift_Del | | c.*4delG | | | P52926 | protein_coding | | | TCGA-AZ-4313-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
HMGA2 | SNV | Missense_Mutation | | c.140G>A | p.Arg47Lys | p.R47K | | protein_coding | tolerated_low_confidence(0.08) | probably_damaging(0.937) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
HMGA2 | SNV | Missense_Mutation | novel | c.230G>A | p.Arg77Lys | p.R77K | | protein_coding | tolerated(0.09) | probably_damaging(0.937) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
HMGA2 | SNV | Missense_Mutation | novel | c.397G>A | p.Val133Ile | p.V133I | | protein_coding | tolerated_low_confidence(0.13) | benign(0.279) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
HMGA2 | SNV | Missense_Mutation | novel | c.146G>T | p.Arg49Met | p.R49M | | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.992) | TCGA-44-6145-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
HMGA2 | SNV | Missense_Mutation | | c.199N>G | p.Lys67Glu | p.K67E | | protein_coding | tolerated(0.09) | probably_damaging(0.979) | TCGA-69-7764-01 | Lung | lung adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
HMGA2 | SNV | Missense_Mutation | novel | c.410N>T | p.Trp137Leu | p.W137L | | protein_coding | deleterious_low_confidence(0.01) | benign(0.155) | TCGA-78-7158-01 | Lung | lung adenocarcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | PD |