Tissue | Expression Dynamics | Abbreviation |
Cervix | | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
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 |
Endometrium | | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
GC | | CAG: Chronic atrophic gastritis |
CAG with IM: Chronic atrophic gastritis with intestinal metaplasia |
CSG: Chronic superficial gastritis |
GC: Gastric cancer |
SIM: Severe intestinal metaplasia |
WIM: Wild intestinal metaplasia |
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:00512359 | Cervix | CC | maintenance of location | 78/2311 | 327/18723 | 5.18e-09 | 4.92e-07 | 78 |
GO:00068399 | Cervix | CC | mitochondrial transport | 60/2311 | 254/18723 | 4.21e-07 | 1.67e-05 | 60 |
GO:00070067 | Cervix | CC | mitochondrial membrane organization | 28/2311 | 116/18723 | 3.28e-04 | 3.47e-03 | 28 |
GO:00108834 | Cervix | CC | regulation of lipid storage | 15/2311 | 57/18723 | 3.13e-03 | 2.05e-02 | 15 |
GO:000683914 | Cervix | HSIL_HPV | mitochondrial transport | 22/737 | 254/18723 | 4.72e-04 | 6.90e-03 | 22 |
GO:005123514 | Cervix | HSIL_HPV | maintenance of location | 26/737 | 327/18723 | 5.67e-04 | 8.04e-03 | 26 |
GO:005123524 | Cervix | N_HPV | maintenance of location | 33/534 | 327/18723 | 3.40e-10 | 2.21e-07 | 33 |
GO:000683924 | Cervix | N_HPV | mitochondrial transport | 22/534 | 254/18723 | 4.05e-06 | 1.60e-04 | 22 |
GO:000700614 | Cervix | N_HPV | mitochondrial membrane organization | 9/534 | 116/18723 | 6.00e-03 | 4.17e-02 | 9 |
GO:0006839 | Colorectum | AD | mitochondrial transport | 102/3918 | 254/18723 | 1.87e-12 | 3.08e-10 | 102 |
GO:0007006 | Colorectum | AD | mitochondrial membrane organization | 48/3918 | 116/18723 | 4.53e-07 | 1.72e-05 | 48 |
GO:0006631 | Colorectum | AD | fatty acid metabolic process | 114/3918 | 390/18723 | 5.58e-05 | 9.44e-04 | 114 |
GO:0090559 | Colorectum | AD | regulation of membrane permeability | 31/3918 | 78/18723 | 1.16e-04 | 1.72e-03 | 31 |
GO:0046902 | Colorectum | AD | regulation of mitochondrial membrane permeability | 24/3918 | 63/18723 | 1.34e-03 | 1.17e-02 | 24 |
GO:0010876 | Colorectum | AD | lipid localization | 120/3918 | 448/18723 | 1.59e-03 | 1.33e-02 | 120 |
GO:00068391 | Colorectum | SER | mitochondrial transport | 87/2897 | 254/18723 | 7.91e-14 | 3.03e-11 | 87 |
GO:00070061 | Colorectum | SER | mitochondrial membrane organization | 38/2897 | 116/18723 | 2.66e-06 | 1.10e-04 | 38 |
GO:00469021 | Colorectum | SER | regulation of mitochondrial membrane permeability | 20/2897 | 63/18723 | 9.29e-04 | 1.12e-02 | 20 |
GO:00905591 | Colorectum | SER | regulation of membrane permeability | 23/2897 | 78/18723 | 1.25e-03 | 1.41e-02 | 23 |
GO:00066311 | Colorectum | SER | fatty acid metabolic process | 79/2897 | 390/18723 | 6.34e-03 | 4.56e-02 | 79 |
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 |
ALKBH7 | SNV | Missense_Mutation | novel | c.218N>C | p.Phe73Ser | p.F73S | Q9BT30 | protein_coding | deleterious(0) | probably_damaging(0.912) | TCGA-A8-A09T-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |
ALKBH7 | SNV | Missense_Mutation | | c.429G>A | p.Met143Ile | p.M143I | Q9BT30 | protein_coding | deleterious(0) | probably_damaging(0.97) | TCGA-AR-A0U3-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
ALKBH7 | SNV | Missense_Mutation | novel | c.367N>T | p.Asp123Tyr | p.D123Y | Q9BT30 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-DS-A1OB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | PD |
ALKBH7 | SNV | Missense_Mutation | rs756913702 | c.607N>T | p.Arg203Cys | p.R203C | Q9BT30 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-MA-AA42-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
ALKBH7 | insertion | Nonsense_Mutation | novel | c.365_366insTCTTCTGCACTGTAACTGCTAGCAGC | p.Asp123LeufsTer7 | p.D123Lfs*7 | Q9BT30 | protein_coding | | | TCGA-DS-A1OB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | PD |
ALKBH7 | SNV | Missense_Mutation | rs755922067 | c.590N>A | p.Arg197His | p.R197H | Q9BT30 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AX-A0J1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ALKBH7 | SNV | Missense_Mutation | rs147538989 | c.586N>T | p.Arg196Trp | p.R196W | Q9BT30 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-B5-A5OC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Chemotherapy | cisplatin | SD |
ALKBH7 | SNV | Missense_Mutation | novel | c.364N>A | p.Val122Met | p.V122M | Q9BT30 | protein_coding | deleterious(0) | probably_damaging(0.979) | TCGA-E6-A2P8-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
ALKBH7 | SNV | Missense_Mutation | rs199888358 | c.271N>T | p.Arg91Cys | p.R91C | Q9BT30 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-EY-A1H0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | taxol | SD |
ALKBH7 | SNV | Missense_Mutation | | c.496N>C | p.Ile166Leu | p.I166L | Q9BT30 | protein_coding | deleterious(0.01) | probably_damaging(0.947) | TCGA-BC-A69H-01 | Liver | liver hepatocellular carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |