GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00381792 | Oral cavity | OSCC | neurotrophin signaling pathway | 21/7305 | 36/18723 | 1.46e-02 | 4.76e-02 | 21 |
GO:0006605110 | Oral cavity | LP | protein targeting | 156/4623 | 314/18723 | 5.43e-22 | 1.62e-19 | 156 |
GO:003238616 | Oral cavity | LP | regulation of intracellular transport | 145/4623 | 337/18723 | 8.58e-14 | 8.27e-12 | 145 |
GO:005165615 | Oral cavity | LP | establishment of organelle localization | 147/4623 | 390/18723 | 6.01e-09 | 2.46e-07 | 147 |
GO:000734614 | Oral cavity | LP | regulation of mitotic cell cycle | 163/4623 | 457/18723 | 7.64e-08 | 2.56e-06 | 163 |
GO:005165015 | Oral cavity | LP | establishment of vesicle localization | 64/4623 | 161/18723 | 1.65e-05 | 2.86e-04 | 64 |
GO:190211513 | Oral cavity | LP | regulation of organelle assembly | 71/4623 | 186/18723 | 2.94e-05 | 4.58e-04 | 71 |
GO:005123519 | Oral cavity | LP | maintenance of location | 111/4623 | 327/18723 | 9.62e-05 | 1.20e-03 | 111 |
GO:005164814 | Oral cavity | LP | vesicle localization | 66/4623 | 177/18723 | 1.25e-04 | 1.46e-03 | 66 |
GO:007238412 | Oral cavity | LP | organelle transport along microtubule | 35/4623 | 85/18723 | 5.94e-04 | 5.44e-03 | 35 |
GO:0051651110 | Oral cavity | LP | maintenance of location in cell | 74/4623 | 214/18723 | 7.18e-04 | 6.41e-03 | 74 |
GO:006049116 | Oral cavity | LP | regulation of cell projection assembly | 66/4623 | 188/18723 | 8.62e-04 | 7.49e-03 | 66 |
GO:003070516 | Oral cavity | LP | cytoskeleton-dependent intracellular transport | 68/4623 | 195/18723 | 8.92e-04 | 7.64e-03 | 68 |
GO:001097012 | Oral cavity | LP | transport along microtubule | 56/4623 | 155/18723 | 9.49e-04 | 8.04e-03 | 56 |
GO:004298211 | Oral cavity | LP | amyloid precursor protein metabolic process | 37/4623 | 95/18723 | 1.45e-03 | 1.14e-02 | 37 |
GO:012003217 | Oral cavity | LP | regulation of plasma membrane bounded cell projection assembly | 64/4623 | 186/18723 | 1.81e-03 | 1.37e-02 | 64 |
GO:000808815 | Oral cavity | LP | axo-dendritic transport | 30/4623 | 75/18723 | 2.42e-03 | 1.73e-02 | 30 |
GO:003134615 | Oral cavity | LP | positive regulation of cell projection organization | 109/4623 | 353/18723 | 4.59e-03 | 2.93e-02 | 109 |
GO:00080902 | Oral cavity | LP | retrograde axonal transport | 11/4623 | 21/18723 | 5.78e-03 | 3.44e-02 | 11 |
GO:190118412 | Oral cavity | LP | regulation of ERBB signaling pathway | 30/4623 | 79/18723 | 5.97e-03 | 3.54e-02 | 30 |
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 |