Tissue | Expression Dynamics | Abbreviation |
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:004227312 | Liver | Cirrhotic | ribosomal large subunit biogenesis | 47/4634 | 72/18723 | 4.20e-13 | 3.29e-11 | 47 |
GO:0032543 | Liver | Cirrhotic | mitochondrial translation | 40/4634 | 76/18723 | 1.61e-07 | 4.29e-06 | 40 |
GO:0140053 | Liver | Cirrhotic | mitochondrial gene expression | 49/4634 | 108/18723 | 2.35e-06 | 4.31e-05 | 49 |
GO:003424911 | Liver | Cirrhotic | negative regulation of cellular amide metabolic process | 100/4634 | 273/18723 | 7.34e-06 | 1.13e-04 | 100 |
GO:001714811 | Liver | Cirrhotic | negative regulation of translation | 87/4634 | 245/18723 | 1.01e-04 | 1.05e-03 | 87 |
GO:002261322 | Liver | HCC | ribonucleoprotein complex biogenesis | 355/7958 | 463/18723 | 7.76e-52 | 4.92e-48 | 355 |
GO:004225422 | Liver | HCC | ribosome biogenesis | 246/7958 | 299/18723 | 4.99e-46 | 1.58e-42 | 246 |
GO:000641722 | Liver | HCC | regulation of translation | 287/7958 | 468/18723 | 8.79e-17 | 8.08e-15 | 287 |
GO:004227322 | Liver | HCC | ribosomal large subunit biogenesis | 64/7958 | 72/18723 | 2.31e-16 | 2.03e-14 | 64 |
GO:01400531 | Liver | HCC | mitochondrial gene expression | 82/7958 | 108/18723 | 1.49e-12 | 7.20e-11 | 82 |
GO:00325431 | Liver | HCC | mitochondrial translation | 62/7958 | 76/18723 | 2.95e-12 | 1.34e-10 | 62 |
GO:0070129 | Liver | HCC | regulation of mitochondrial translation | 19/7958 | 24/18723 | 2.80e-04 | 2.02e-03 | 19 |
GO:003424921 | Liver | HCC | negative regulation of cellular amide metabolic process | 144/7958 | 273/18723 | 3.80e-04 | 2.61e-03 | 144 |
GO:0062125 | Liver | HCC | regulation of mitochondrial gene expression | 21/7958 | 28/18723 | 4.94e-04 | 3.23e-03 | 21 |
GO:001714821 | Liver | HCC | negative regulation of translation | 129/7958 | 245/18723 | 8.14e-04 | 4.87e-03 | 129 |
GO:002261320 | Oral cavity | OSCC | ribonucleoprotein complex biogenesis | 333/7305 | 463/18723 | 8.28e-48 | 5.24e-44 | 333 |
GO:004225420 | Oral cavity | OSCC | ribosome biogenesis | 230/7305 | 299/18723 | 3.22e-41 | 6.80e-38 | 230 |
GO:000641720 | Oral cavity | OSCC | regulation of translation | 274/7305 | 468/18723 | 4.39e-18 | 4.63e-16 | 274 |
GO:004227320 | Oral cavity | OSCC | ribosomal large subunit biogenesis | 61/7305 | 72/18723 | 1.52e-15 | 1.06e-13 | 61 |
GO:01400533 | Oral cavity | OSCC | mitochondrial gene expression | 78/7305 | 108/18723 | 2.37e-12 | 9.86e-11 | 78 |
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 |
MALSU1 | SNV | Missense_Mutation | | c.120N>T | p.Gln40His | p.Q40H | Q96EH3 | protein_coding | tolerated(0.13) | benign(0.066) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
MALSU1 | SNV | Missense_Mutation | | c.410N>T | p.Ala137Val | p.A137V | Q96EH3 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR |
MALSU1 | SNV | Missense_Mutation | novel | c.573G>T | p.Glu191Asp | p.E191D | Q96EH3 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AG-A002-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
MALSU1 | SNV | Missense_Mutation | | c.410N>T | p.Ala137Val | p.A137V | Q96EH3 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
MALSU1 | SNV | Missense_Mutation | novel | c.332N>C | p.Val111Ala | p.V111A | Q96EH3 | protein_coding | tolerated(0.06) | possibly_damaging(0.695) | TCGA-AX-A2HJ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MALSU1 | SNV | Missense_Mutation | novel | c.573N>T | p.Glu191Asp | p.E191D | Q96EH3 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
MALSU1 | SNV | Missense_Mutation | novel | c.377T>G | p.Ile126Ser | p.I126S | Q96EH3 | protein_coding | deleterious(0) | probably_damaging(0.989) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
MALSU1 | SNV | Missense_Mutation | rs753431892 | c.490A>G | p.Thr164Ala | p.T164A | Q96EH3 | protein_coding | tolerated(0.25) | benign(0.033) | TCGA-2Y-A9GU-01 | Liver | liver hepatocellular carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MALSU1 | SNV | Missense_Mutation | | c.19N>T | p.Val7Leu | p.V7L | Q96EH3 | protein_coding | tolerated_low_confidence(0.11) | benign(0.018) | TCGA-CC-A7II-01 | Liver | liver hepatocellular carcinoma | Male | <65 | III/IV | Unknown | Unknown | PD |
MALSU1 | SNV | Missense_Mutation | rs375849242 | c.16C>T | p.Arg6Cys | p.R6C | Q96EH3 | protein_coding | tolerated_low_confidence(0.49) | benign(0) | TCGA-G3-AAV5-01 | Liver | liver hepatocellular carcinoma | Male | >=65 | I/II | Chemotherapy | hec.1 | SD |