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 |
Liver | | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Lung | | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
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 |
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:000914516 | Endometrium | EEC | purine nucleoside triphosphate biosynthetic process | 30/2168 | 69/18723 | 2.24e-11 | 3.36e-09 | 30 |
GO:000683915 | Endometrium | EEC | mitochondrial transport | 67/2168 | 254/18723 | 5.04e-11 | 7.03e-09 | 67 |
GO:000920616 | Endometrium | EEC | purine ribonucleoside triphosphate biosynthetic process | 29/2168 | 68/18723 | 8.54e-11 | 1.09e-08 | 29 |
GO:000914416 | Endometrium | EEC | purine nucleoside triphosphate metabolic process | 33/2168 | 88/18723 | 2.71e-10 | 2.95e-08 | 33 |
GO:000920516 | Endometrium | EEC | purine ribonucleoside triphosphate metabolic process | 31/2168 | 82/18723 | 7.39e-10 | 7.04e-08 | 31 |
GO:000920115 | Endometrium | EEC | ribonucleoside triphosphate biosynthetic process | 29/2168 | 74/18723 | 9.65e-10 | 8.51e-08 | 29 |
GO:000675415 | Endometrium | EEC | ATP biosynthetic process | 24/2168 | 57/18723 | 4.89e-09 | 3.30e-07 | 24 |
GO:000919915 | Endometrium | EEC | ribonucleoside triphosphate metabolic process | 31/2168 | 89/18723 | 7.48e-09 | 4.83e-07 | 31 |
GO:000914216 | Endometrium | EEC | nucleoside triphosphate biosynthetic process | 30/2168 | 85/18723 | 9.15e-09 | 5.78e-07 | 30 |
GO:000914116 | Endometrium | EEC | nucleoside triphosphate metabolic process | 35/2168 | 112/18723 | 2.08e-08 | 1.25e-06 | 35 |
GO:199054216 | Endometrium | EEC | mitochondrial transmembrane transport | 31/2168 | 102/18723 | 2.65e-07 | 1.11e-05 | 31 |
GO:000915017 | Endometrium | EEC | purine ribonucleotide metabolic process | 69/2168 | 368/18723 | 3.38e-05 | 5.77e-04 | 69 |
GO:000616317 | Endometrium | EEC | purine nucleotide metabolic process | 71/2168 | 396/18723 | 1.14e-04 | 1.54e-03 | 71 |
GO:000925916 | Endometrium | EEC | ribonucleotide metabolic process | 69/2168 | 385/18723 | 1.43e-04 | 1.84e-03 | 69 |
GO:007252117 | Endometrium | EEC | purine-containing compound metabolic process | 73/2168 | 416/18723 | 1.82e-04 | 2.24e-03 | 73 |
GO:001969316 | Endometrium | EEC | ribose phosphate metabolic process | 70/2168 | 396/18723 | 1.96e-04 | 2.38e-03 | 70 |
GO:000915216 | Endometrium | EEC | purine ribonucleotide biosynthetic process | 36/2168 | 169/18723 | 2.03e-04 | 2.45e-03 | 36 |
GO:001003817 | Endometrium | EEC | response to metal ion | 66/2168 | 373/18723 | 2.86e-04 | 3.23e-03 | 66 |
GO:000911716 | Endometrium | EEC | nucleotide metabolic process | 80/2168 | 489/18723 | 8.65e-04 | 7.95e-03 | 80 |
GO:000926015 | Endometrium | EEC | ribonucleotide biosynthetic process | 36/2168 | 182/18723 | 8.83e-04 | 8.03e-03 | 36 |
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 |
SLC25A13 | SNV | Missense_Mutation | rs376257669 | c.572N>A | p.Arg191His | p.R191H | Q9UJS0 | protein_coding | deleterious(0.02) | benign(0.049) | TCGA-A2-A0CT-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | SD |
SLC25A13 | SNV | Missense_Mutation | | c.874N>G | p.Arg292Gly | p.R292G | Q9UJS0 | protein_coding | tolerated(0.06) | benign(0.081) | TCGA-A7-A26G-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | SD |
SLC25A13 | SNV | Missense_Mutation | rs142308242 | c.874N>T | p.Arg292Trp | p.R292W | Q9UJS0 | protein_coding | deleterious(0) | possibly_damaging(0.586) | TCGA-AR-A0TU-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Doxorubicin | SD |
SLC25A13 | SNV | Missense_Mutation | | c.1460N>T | p.Ala487Val | p.A487V | Q9UJS0 | protein_coding | tolerated(0.06) | probably_damaging(0.933) | TCGA-E2-A1L9-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
SLC25A13 | insertion | Frame_Shift_Ins | novel | c.943_944insTTATGTAC | p.Ser315PhefsTer42 | p.S315Ffs*42 | Q9UJS0 | protein_coding | | | TCGA-AN-A04C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SLC25A13 | insertion | Nonsense_Mutation | novel | c.941_942insATATTTCTGAGACTCAGTATTATCAC | p.Ser315TyrfsTer3 | p.S315Yfs*3 | Q9UJS0 | protein_coding | | | TCGA-AN-A04C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SLC25A13 | SNV | Missense_Mutation | novel | c.690G>A | p.Met230Ile | p.M230I | Q9UJS0 | protein_coding | tolerated(0.09) | benign(0.222) | TCGA-C5-A7X5-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | carboplatin | PD |
SLC25A13 | SNV | Missense_Mutation | | c.871N>A | p.Glu291Lys | p.E291K | Q9UJS0 | protein_coding | tolerated(0.08) | benign(0.058) | TCGA-UC-A7PF-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
SLC25A13 | SNV | Missense_Mutation | | c.1001G>A | p.Gly334Asp | p.G334D | Q9UJS0 | protein_coding | tolerated(0.27) | benign(0.088) | TCGA-A6-3810-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
SLC25A13 | SNV | Missense_Mutation | | c.2010N>T | p.Lys670Asn | p.K670N | Q9UJS0 | protein_coding | tolerated_low_confidence(0.45) | benign(0.01) | TCGA-AA-3811-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD |