Tissue | Expression Dynamics | Abbreviation |
Breast | | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
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 |
Prostate | | BPH: Benign Prostatic Hyperplasia |
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:19058201 | Liver | HCC | positive regulation of chromosome separation | 13/7958 | 18/18723 | 1.05e-02 | 3.89e-02 | 13 |
GO:003238615 | Oral cavity | OSCC | regulation of intracellular transport | 218/7305 | 337/18723 | 6.91e-22 | 1.41e-19 | 218 |
GO:01400145 | Oral cavity | OSCC | mitotic nuclear division | 191/7305 | 287/18723 | 1.99e-21 | 3.70e-19 | 191 |
GO:005165610 | Oral cavity | OSCC | establishment of organelle localization | 239/7305 | 390/18723 | 2.46e-19 | 3.31e-17 | 239 |
GO:190382920 | Oral cavity | OSCC | positive regulation of cellular protein localization | 179/7305 | 276/18723 | 2.20e-18 | 2.41e-16 | 179 |
GO:004325420 | Oral cavity | OSCC | regulation of protein-containing complex assembly | 255/7305 | 428/18723 | 2.94e-18 | 3.15e-16 | 255 |
GO:00000702 | Oral cavity | OSCC | mitotic sister chromatid segregation | 118/7305 | 168/18723 | 1.89e-16 | 1.48e-14 | 118 |
GO:00008193 | Oral cavity | OSCC | sister chromatid segregation | 135/7305 | 202/18723 | 8.88e-16 | 6.52e-14 | 135 |
GO:003133420 | Oral cavity | OSCC | positive regulation of protein-containing complex assembly | 153/7305 | 237/18723 | 1.18e-15 | 8.33e-14 | 153 |
GO:003238818 | Oral cavity | OSCC | positive regulation of intracellular transport | 134/7305 | 202/18723 | 2.82e-15 | 1.88e-13 | 134 |
GO:00070592 | Oral cavity | OSCC | chromosome segregation | 206/7305 | 346/18723 | 5.82e-15 | 3.76e-13 | 206 |
GO:00330448 | Oral cavity | OSCC | regulation of chromosome organization | 123/7305 | 187/18723 | 9.87e-14 | 5.17e-12 | 123 |
GO:00070526 | Oral cavity | OSCC | mitotic spindle organization | 85/7305 | 120/18723 | 1.44e-12 | 6.23e-11 | 85 |
GO:19028506 | Oral cavity | OSCC | microtubule cytoskeleton organization involved in mitosis | 99/7305 | 147/18723 | 2.94e-12 | 1.18e-10 | 99 |
GO:190290520 | Oral cavity | OSCC | positive regulation of supramolecular fiber organization | 131/7305 | 209/18723 | 3.18e-12 | 1.27e-10 | 131 |
GO:00482852 | Oral cavity | OSCC | organelle fission | 265/7305 | 488/18723 | 3.22e-12 | 1.27e-10 | 265 |
GO:00070517 | Oral cavity | OSCC | spindle organization | 117/7305 | 184/18723 | 1.16e-11 | 4.17e-10 | 117 |
GO:199077816 | Oral cavity | OSCC | protein localization to cell periphery | 190/7305 | 333/18723 | 1.46e-11 | 5.13e-10 | 190 |
GO:190290320 | Oral cavity | OSCC | regulation of supramolecular fiber organization | 211/7305 | 383/18723 | 9.45e-11 | 2.88e-09 | 211 |
GO:00002801 | Oral cavity | OSCC | nuclear division | 237/7305 | 439/18723 | 9.62e-11 | 2.90e-09 | 237 |
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 |
NUMA1 | SNV | Missense_Mutation | novel | c.3952C>G | p.Gln1318Glu | p.Q1318E | Q14980 | protein_coding | tolerated(0.21) | possibly_damaging(0.875) | TCGA-A2-A0D2-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
NUMA1 | SNV | Missense_Mutation | novel | c.3160N>T | p.His1054Tyr | p.H1054Y | Q14980 | protein_coding | deleterious(0.01) | benign(0.244) | TCGA-A8-A08H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
NUMA1 | SNV | Missense_Mutation | rs371974605 | c.1784C>T | p.Ser595Phe | p.S595F | Q14980 | protein_coding | tolerated(0.09) | benign(0.003) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
NUMA1 | SNV | Missense_Mutation | | c.1474C>T | p.His492Tyr | p.H492Y | Q14980 | protein_coding | deleterious(0) | benign(0.058) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
NUMA1 | SNV | Missense_Mutation | rs768661581 | c.1832N>G | p.Lys611Arg | p.K611R | Q14980 | protein_coding | tolerated(0.34) | benign(0.254) | TCGA-AC-A2BK-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | cytoxan | CR |
NUMA1 | SNV | Missense_Mutation | rs780069834 | c.5996G>A | p.Gly1999Glu | p.G1999E | Q14980 | protein_coding | tolerated(0.21) | benign(0.328) | TCGA-AC-A3W6-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
NUMA1 | SNV | Missense_Mutation | novel | c.5995G>A | p.Gly1999Arg | p.G1999R | Q14980 | protein_coding | deleterious(0.02) | possibly_damaging(0.701) | TCGA-AC-A3W6-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
NUMA1 | SNV | Missense_Mutation | rs1053601 | c.2617N>A | p.Glu873Lys | p.E873K | Q14980 | protein_coding | tolerated(0.49) | benign(0.019) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
NUMA1 | SNV | Missense_Mutation | | c.1665G>C | p.Gln555His | p.Q555H | Q14980 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-AN-A0AT-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NUMA1 | SNV | Missense_Mutation | rs141331520 | c.5501N>T | p.Ser1834Leu | p.S1834L | Q14980 | protein_coding | deleterious(0) | possibly_damaging(0.9) | TCGA-AO-A0JA-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | leuprolide | SD |