GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:003238615 | Oral cavity | OSCC | regulation of intracellular transport | 218/7305 | 337/18723 | 6.91e-22 | 1.41e-19 | 218 |
GO:000660520 | Oral cavity | OSCC | protein targeting | 204/7305 | 314/18723 | 6.78e-21 | 1.13e-18 | 204 |
GO:005165610 | Oral cavity | OSCC | establishment of organelle localization | 239/7305 | 390/18723 | 2.46e-19 | 3.31e-17 | 239 |
GO:00073469 | Oral cavity | OSCC | regulation of mitotic cell cycle | 266/7305 | 457/18723 | 3.87e-17 | 3.41e-15 | 266 |
GO:005123518 | Oral cavity | OSCC | maintenance of location | 182/7305 | 327/18723 | 6.16e-10 | 1.58e-08 | 182 |
GO:00516509 | Oral cavity | OSCC | establishment of vesicle localization | 101/7305 | 161/18723 | 8.79e-10 | 2.17e-08 | 101 |
GO:00516489 | Oral cavity | OSCC | vesicle localization | 105/7305 | 177/18723 | 3.30e-08 | 6.30e-07 | 105 |
GO:19021155 | Oral cavity | OSCC | regulation of organelle assembly | 109/7305 | 186/18723 | 4.54e-08 | 8.45e-07 | 109 |
GO:003070510 | Oral cavity | OSCC | cytoskeleton-dependent intracellular transport | 113/7305 | 195/18723 | 6.03e-08 | 1.09e-06 | 113 |
GO:003812715 | Oral cavity | OSCC | ERBB signaling pathway | 76/7305 | 121/18723 | 9.59e-08 | 1.66e-06 | 76 |
GO:005165120 | Oral cavity | OSCC | maintenance of location in cell | 121/7305 | 214/18723 | 1.39e-07 | 2.32e-06 | 121 |
GO:00107209 | Oral cavity | OSCC | positive regulation of cell development | 159/7305 | 298/18723 | 3.06e-07 | 4.66e-06 | 159 |
GO:000717315 | Oral cavity | OSCC | epidermal growth factor receptor signaling pathway | 67/7305 | 108/18723 | 1.04e-06 | 1.40e-05 | 67 |
GO:00109706 | Oral cavity | OSCC | transport along microtubule | 88/7305 | 155/18723 | 5.35e-06 | 6.02e-05 | 88 |
GO:00507696 | Oral cavity | OSCC | positive regulation of neurogenesis | 120/7305 | 225/18723 | 8.45e-06 | 9.02e-05 | 120 |
GO:19011847 | Oral cavity | OSCC | regulation of ERBB signaling pathway | 50/7305 | 79/18723 | 1.06e-05 | 1.12e-04 | 50 |
GO:00723845 | Oral cavity | OSCC | organelle transport along microtubule | 53/7305 | 85/18723 | 1.10e-05 | 1.14e-04 | 53 |
GO:003134610 | Oral cavity | OSCC | positive regulation of cell projection organization | 176/7305 | 353/18723 | 1.94e-05 | 1.87e-04 | 176 |
GO:00420587 | Oral cavity | OSCC | regulation of epidermal growth factor receptor signaling pathway | 46/7305 | 73/18723 | 2.80e-05 | 2.59e-04 | 46 |
GO:005067310 | Oral cavity | OSCC | epithelial cell proliferation | 212/7305 | 437/18723 | 2.82e-05 | 2.61e-04 | 212 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0501630 | Esophagus | HGIN | Huntington disease | 129/1383 | 306/8465 | 6.81e-28 | 7.41e-26 | 5.88e-26 | 129 |
hsa0501430 | Esophagus | HGIN | Amyotrophic lateral sclerosis | 140/1383 | 364/8465 | 2.13e-25 | 1.16e-23 | 9.19e-24 | 140 |
hsa0502230 | Esophagus | HGIN | Pathways of neurodegeneration - multiple diseases | 153/1383 | 476/8465 | 1.22e-18 | 4.41e-17 | 3.50e-17 | 153 |
hsa05016113 | Esophagus | HGIN | Huntington disease | 129/1383 | 306/8465 | 6.81e-28 | 7.41e-26 | 5.88e-26 | 129 |
hsa05014113 | Esophagus | HGIN | Amyotrophic lateral sclerosis | 140/1383 | 364/8465 | 2.13e-25 | 1.16e-23 | 9.19e-24 | 140 |
hsa05022113 | Esophagus | HGIN | Pathways of neurodegeneration - multiple diseases | 153/1383 | 476/8465 | 1.22e-18 | 4.41e-17 | 3.50e-17 | 153 |
hsa05014210 | Esophagus | ESCC | Amyotrophic lateral sclerosis | 266/4205 | 364/8465 | 1.31e-20 | 2.20e-18 | 1.13e-18 | 266 |
hsa05016210 | Esophagus | ESCC | Huntington disease | 226/4205 | 306/8465 | 1.38e-18 | 8.72e-17 | 4.46e-17 | 226 |
hsa05022210 | Esophagus | ESCC | Pathways of neurodegeneration - multiple diseases | 318/4205 | 476/8465 | 6.10e-15 | 2.04e-13 | 1.05e-13 | 318 |
hsa0501438 | Esophagus | ESCC | Amyotrophic lateral sclerosis | 266/4205 | 364/8465 | 1.31e-20 | 2.20e-18 | 1.13e-18 | 266 |
hsa0501638 | Esophagus | ESCC | Huntington disease | 226/4205 | 306/8465 | 1.38e-18 | 8.72e-17 | 4.46e-17 | 226 |
hsa0502238 | Esophagus | ESCC | Pathways of neurodegeneration - multiple diseases | 318/4205 | 476/8465 | 6.10e-15 | 2.04e-13 | 1.05e-13 | 318 |
hsa0501428 | Oral cavity | OSCC | Amyotrophic lateral sclerosis | 246/3704 | 364/8465 | 6.65e-21 | 1.11e-18 | 5.67e-19 | 246 |
hsa0501628 | Oral cavity | OSCC | Huntington disease | 204/3704 | 306/8465 | 1.70e-16 | 7.13e-15 | 3.63e-15 | 204 |
hsa0502228 | Oral cavity | OSCC | Pathways of neurodegeneration - multiple diseases | 292/3704 | 476/8465 | 1.60e-15 | 4.47e-14 | 2.28e-14 | 292 |
hsa05014112 | Oral cavity | OSCC | Amyotrophic lateral sclerosis | 246/3704 | 364/8465 | 6.65e-21 | 1.11e-18 | 5.67e-19 | 246 |
hsa05016112 | Oral cavity | OSCC | Huntington disease | 204/3704 | 306/8465 | 1.70e-16 | 7.13e-15 | 3.63e-15 | 204 |
hsa05022112 | Oral cavity | OSCC | Pathways of neurodegeneration - multiple diseases | 292/3704 | 476/8465 | 1.60e-15 | 4.47e-14 | 2.28e-14 | 292 |
hsa0501429 | Oral cavity | LP | Amyotrophic lateral sclerosis | 197/2418 | 364/8465 | 1.25e-25 | 1.39e-23 | 8.93e-24 | 197 |
hsa0501629 | Oral cavity | LP | Huntington disease | 172/2418 | 306/8465 | 6.31e-25 | 5.25e-23 | 3.39e-23 | 172 |
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 |
HAP1 | SNV | Missense_Mutation | rs782546957 | c.1301N>T | p.Thr434Met | p.T434M | P54257 | protein_coding | deleterious(0.02) | probably_damaging(0.951) | TCGA-A7-A425-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | adriamycin | PD |
HAP1 | SNV | Missense_Mutation | novel | c.1307C>A | p.Ala436Asp | p.A436D | P54257 | protein_coding | tolerated(0.06) | probably_damaging(0.997) | TCGA-AC-A8OP-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
HAP1 | SNV | Missense_Mutation | | c.1030G>A | p.Glu344Lys | p.E344K | P54257 | protein_coding | tolerated(0.25) | benign(0.048) | TCGA-AR-A0TX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
HAP1 | SNV | Missense_Mutation | rs782311151 | c.1825N>A | p.Ala609Thr | p.A609T | P54257 | protein_coding | tolerated_low_confidence(0.08) | benign(0.02) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
HAP1 | SNV | Missense_Mutation | novel | c.1312N>A | p.Glu438Lys | p.E438K | P54257 | protein_coding | deleterious(0.04) | probably_damaging(0.987) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
HAP1 | SNV | Missense_Mutation | | c.1630N>A | p.Glu544Lys | p.E544K | P54257 | protein_coding | deleterious(0) | benign(0.225) | TCGA-C5-A1MK-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | carboplatin | PD |
HAP1 | SNV | Missense_Mutation | | c.1147G>A | p.Glu383Lys | p.E383K | P54257 | protein_coding | deleterious(0.01) | possibly_damaging(0.882) | TCGA-EK-A2R8-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
HAP1 | SNV | Missense_Mutation | | c.185C>T | p.Ser62Leu | p.S62L | P54257 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.572) | TCGA-IR-A3LK-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | PD |
HAP1 | SNV | Missense_Mutation | | c.955G>A | p.Glu319Lys | p.E319K | P54257 | protein_coding | tolerated(0.33) | benign(0.013) | TCGA-LP-A5U2-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD |
HAP1 | SNV | Missense_Mutation | rs555784831 | c.1630N>C | p.Glu544Gln | p.E544Q | P54257 | protein_coding | deleterious(0) | possibly_damaging(0.891) | TCGA-VS-A9U7-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |