Tissue | Expression Dynamics | Abbreviation |
Colorectum (GSE201348) | | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
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 |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00161974 | Colorectum | CRC | endosomal transport | 49/2078 | 230/18723 | 5.07e-06 | 2.05e-04 | 49 |
GO:00481935 | Colorectum | CRC | Golgi vesicle transport | 59/2078 | 296/18723 | 5.47e-06 | 2.17e-04 | 59 |
GO:00105064 | Colorectum | CRC | regulation of autophagy | 62/2078 | 317/18723 | 6.04e-06 | 2.35e-04 | 62 |
GO:00421473 | Colorectum | CRC | retrograde transport, endosome to Golgi | 24/2078 | 91/18723 | 3.88e-05 | 9.49e-04 | 24 |
GO:00435473 | Colorectum | CRC | positive regulation of GTPase activity | 49/2078 | 255/18723 | 8.67e-05 | 1.77e-03 | 49 |
GO:00162364 | Colorectum | CRC | macroautophagy | 51/2078 | 291/18723 | 6.40e-04 | 8.48e-03 | 51 |
GO:00105073 | Colorectum | CRC | negative regulation of autophagy | 18/2078 | 85/18723 | 5.04e-03 | 3.87e-02 | 18 |
GO:004819318 | Esophagus | ESCC | Golgi vesicle transport | 231/8552 | 296/18723 | 1.82e-30 | 9.63e-28 | 231 |
GO:001623617 | Esophagus | ESCC | macroautophagy | 216/8552 | 291/18723 | 1.94e-23 | 4.57e-21 | 216 |
GO:001050617 | Esophagus | ESCC | regulation of autophagy | 220/8552 | 317/18723 | 6.72e-18 | 6.36e-16 | 220 |
GO:001619715 | Esophagus | ESCC | endosomal transport | 168/8552 | 230/18723 | 2.28e-17 | 1.93e-15 | 168 |
GO:001648210 | Esophagus | ESCC | cytosolic transport | 124/8552 | 168/18723 | 9.69e-14 | 4.69e-12 | 124 |
GO:000703314 | Esophagus | ESCC | vacuole organization | 127/8552 | 180/18723 | 1.04e-11 | 3.85e-10 | 127 |
GO:0009895111 | Esophagus | ESCC | negative regulation of catabolic process | 201/8552 | 320/18723 | 3.88e-10 | 1.05e-08 | 201 |
GO:0031330111 | Esophagus | ESCC | negative regulation of cellular catabolic process | 166/8552 | 262/18723 | 5.17e-09 | 1.08e-07 | 166 |
GO:190503712 | Esophagus | ESCC | autophagosome organization | 73/8552 | 103/18723 | 1.88e-07 | 2.93e-06 | 73 |
GO:000004513 | Esophagus | ESCC | autophagosome assembly | 69/8552 | 99/18723 | 1.10e-06 | 1.38e-05 | 69 |
GO:190211514 | Esophagus | ESCC | regulation of organelle assembly | 116/8552 | 186/18723 | 3.15e-06 | 3.53e-05 | 116 |
GO:00421477 | Esophagus | ESCC | retrograde transport, endosome to Golgi | 63/8552 | 91/18723 | 4.58e-06 | 4.87e-05 | 63 |
GO:001050712 | Esophagus | ESCC | negative regulation of autophagy | 56/8552 | 85/18723 | 1.34e-04 | 9.09e-04 | 56 |
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 |
TBC1D14 | SNV | Missense_Mutation | rs778562700 | c.116G>A | p.Arg39Gln | p.R39Q | Q9P2M4 | protein_coding | tolerated_low_confidence(0.24) | probably_damaging(0.978) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TBC1D14 | SNV | Missense_Mutation | | c.1348G>A | p.Glu450Lys | p.E450K | Q9P2M4 | protein_coding | tolerated(0.08) | possibly_damaging(0.455) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TBC1D14 | insertion | In_Frame_Ins | novel | c.944_945insTAAAATTTACAGTGTCCAGAAGAGAGAAAACATGCCTGTTAC | p.Ile315_Leu316insLysIleTyrSerValGlnLysArgGluAsnMetProValThr | p.I315_L316insKIYSVQKRENMPVT | Q9P2M4 | protein_coding | | | TCGA-A8-A09X-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
TBC1D14 | insertion | Frame_Shift_Ins | novel | c.665_666insCTTG | p.Glu222AspfsTer4 | p.E222Dfs*4 | Q9P2M4 | protein_coding | | | TCGA-AN-A0FN-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TBC1D14 | insertion | Frame_Shift_Ins | novel | c.666_667insACTCCTGGGCTCAAGTGGTCCTCCT | p.Ala223ThrfsTer10 | p.A223Tfs*10 | Q9P2M4 | protein_coding | | | TCGA-AN-A0FN-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TBC1D14 | insertion | Frame_Shift_Ins | novel | c.683_684insGGGAACAGAGCGTGCGCAAATCCTCCACGTTTCCC | p.Leu229GlyfsTer13 | p.L229Gfs*13 | Q9P2M4 | protein_coding | | | TCGA-BH-A0HY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | taxotere | CR |
TBC1D14 | SNV | Missense_Mutation | rs780237415 | c.866N>A | p.Arg289Lys | p.R289K | Q9P2M4 | protein_coding | tolerated(0.23) | benign(0.015) | TCGA-C5-A1MH-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | PD |
TBC1D14 | SNV | Missense_Mutation | rs770100466 | c.1954N>A | p.Glu652Lys | p.E652K | Q9P2M4 | protein_coding | deleterious(0.02) | benign(0.07) | TCGA-DS-A7WH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
TBC1D14 | SNV | Missense_Mutation | | c.493N>A | p.Glu165Lys | p.E165K | Q9P2M4 | protein_coding | deleterious_low_confidence(0) | benign(0.411) | TCGA-IR-A3LK-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | PD |
TBC1D14 | SNV | Missense_Mutation | | c.937N>A | p.Ala313Thr | p.A313T | Q9P2M4 | protein_coding | deleterious(0) | possibly_damaging(0.781) | TCGA-A6-6780-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |