GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:001049826 | Esophagus | HGIN | proteasomal protein catabolic process | 139/2587 | 490/18723 | 1.20e-17 | 3.41e-15 | 139 |
GO:004316126 | Esophagus | HGIN | proteasome-mediated ubiquitin-dependent protein catabolic process | 114/2587 | 412/18723 | 7.00e-14 | 1.20e-11 | 114 |
GO:003497625 | Esophagus | HGIN | response to endoplasmic reticulum stress | 81/2587 | 256/18723 | 1.47e-13 | 2.32e-11 | 81 |
GO:000697927 | Esophagus | HGIN | response to oxidative stress | 107/2587 | 446/18723 | 3.91e-09 | 2.76e-07 | 107 |
GO:006219727 | Esophagus | HGIN | cellular response to chemical stress | 76/2587 | 337/18723 | 8.00e-06 | 2.41e-04 | 76 |
GO:003459926 | Esophagus | HGIN | cellular response to oxidative stress | 65/2587 | 288/18723 | 3.42e-05 | 8.66e-04 | 65 |
GO:000030226 | Esophagus | HGIN | response to reactive oxygen species | 52/2587 | 222/18723 | 7.30e-05 | 1.66e-03 | 52 |
GO:004254220 | Esophagus | HGIN | response to hydrogen peroxide | 35/2587 | 146/18723 | 6.58e-04 | 9.01e-03 | 35 |
GO:00365036 | Esophagus | HGIN | ERAD pathway | 27/2587 | 107/18723 | 1.15e-03 | 1.39e-02 | 27 |
GO:00304335 | Esophagus | HGIN | ubiquitin-dependent ERAD pathway | 22/2587 | 85/18723 | 2.24e-03 | 2.31e-02 | 22 |
GO:0010498111 | Esophagus | ESCC | proteasomal protein catabolic process | 369/8552 | 490/18723 | 1.13e-41 | 1.80e-38 | 369 |
GO:0043161111 | Esophagus | ESCC | proteasome-mediated ubiquitin-dependent protein catabolic process | 312/8552 | 412/18723 | 3.53e-36 | 4.48e-33 | 312 |
GO:0034976111 | Esophagus | ESCC | response to endoplasmic reticulum stress | 192/8552 | 256/18723 | 7.15e-22 | 1.30e-19 | 192 |
GO:0006979111 | Esophagus | ESCC | response to oxidative stress | 303/8552 | 446/18723 | 7.15e-22 | 1.30e-19 | 303 |
GO:0062197111 | Esophagus | ESCC | cellular response to chemical stress | 234/8552 | 337/18723 | 5.37e-19 | 5.97e-17 | 234 |
GO:0034599111 | Esophagus | ESCC | cellular response to oxidative stress | 197/8552 | 288/18723 | 3.76e-15 | 2.15e-13 | 197 |
GO:0000302111 | Esophagus | ESCC | response to reactive oxygen species | 150/8552 | 222/18723 | 3.06e-11 | 1.02e-09 | 150 |
GO:003650315 | Esophagus | ESCC | ERAD pathway | 82/8552 | 107/18723 | 5.80e-11 | 1.84e-09 | 82 |
GO:003043314 | Esophagus | ESCC | ubiquitin-dependent ERAD pathway | 66/8552 | 85/18723 | 1.64e-09 | 3.78e-08 | 66 |
GO:0042542111 | Esophagus | ESCC | response to hydrogen peroxide | 102/8552 | 146/18723 | 2.64e-09 | 5.81e-08 | 102 |
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 |
ANKZF1 | SNV | Missense_Mutation | rs750299159 | c.316G>A | p.Asp106Asn | p.D106N | Q9H8Y5 | protein_coding | tolerated(0.21) | benign(0) | TCGA-D8-A1Y3-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicine+cyclophosphamide | SD |
ANKZF1 | SNV | Missense_Mutation | novel | c.1330N>G | p.Lys444Glu | p.K444E | Q9H8Y5 | protein_coding | tolerated(0.16) | benign(0.015) | TCGA-E2-A56Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
ANKZF1 | SNV | Missense_Mutation | novel | c.1951N>A | p.Ala651Thr | p.A651T | Q9H8Y5 | protein_coding | deleterious(0) | possibly_damaging(0.588) | TCGA-E9-A54X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ANKZF1 | insertion | Frame_Shift_Ins | novel | c.1505_1506insTTGGCTTGCCTCCCCACACCCAGCCGCGGCGA | p.Arg503TrpfsTer19 | p.R503Wfs*19 | Q9H8Y5 | protein_coding | | | TCGA-A2-A04Y-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
ANKZF1 | insertion | In_Frame_Ins | novel | c.814_815insCCACTGAGGAGGACTTGCAGACACTGG | p.Tyr272delinsSerThrGluGluAspLeuGlnThrLeuAsp | p.Y272delinsSTEEDLQTLD | Q9H8Y5 | protein_coding | | | TCGA-A2-A0CX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
ANKZF1 | insertion | Nonsense_Mutation | novel | c.532_533insTGGAATAAGCAAATAAATAAGGAAAA | p.Tyr178LeufsTer3 | p.Y178Lfs*3 | Q9H8Y5 | protein_coding | | | TCGA-A8-A07P-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | 5-fluorouracil | SD |
ANKZF1 | SNV | Missense_Mutation | rs750701800 | c.1770N>C | p.Lys590Asn | p.K590N | Q9H8Y5 | protein_coding | deleterious(0.02) | possibly_damaging(0.551) | TCGA-C5-A8XJ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | SD |
ANKZF1 | SNV | Missense_Mutation | | c.1240N>C | p.Glu414Gln | p.E414Q | Q9H8Y5 | protein_coding | tolerated(0.19) | benign(0.241) | TCGA-DR-A0ZM-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unspecific | Cisplatin | SD |
ANKZF1 | SNV | Missense_Mutation | rs768432915 | c.1849N>T | p.Arg617Trp | p.R617W | Q9H8Y5 | protein_coding | deleterious(0) | probably_damaging(0.992) | TCGA-AA-3672-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
ANKZF1 | SNV | Missense_Mutation | | c.738N>T | p.Gln246His | p.Q246H | Q9H8Y5 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-AA-3715-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |