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:00092603 | Colorectum | FAP | ribonucleotide biosynthetic process | 43/2622 | 182/18723 | 3.23e-04 | 4.15e-03 | 43 |
GO:00091993 | Colorectum | FAP | ribonucleoside triphosphate metabolic process | 25/2622 | 89/18723 | 3.85e-04 | 4.74e-03 | 25 |
GO:00061643 | Colorectum | FAP | purine nucleotide biosynthetic process | 44/2622 | 191/18723 | 4.96e-04 | 5.71e-03 | 44 |
GO:00068394 | Colorectum | FAP | mitochondrial transport | 55/2622 | 254/18723 | 5.58e-04 | 6.24e-03 | 55 |
GO:00463903 | Colorectum | FAP | ribose phosphate biosynthetic process | 43/2622 | 190/18723 | 8.40e-04 | 8.72e-03 | 43 |
GO:00091453 | Colorectum | FAP | purine nucleoside triphosphate biosynthetic process | 20/2622 | 69/18723 | 9.25e-04 | 9.26e-03 | 20 |
GO:00725223 | Colorectum | FAP | purine-containing compound biosynthetic process | 44/2622 | 200/18723 | 1.35e-03 | 1.24e-02 | 44 |
GO:00091414 | Colorectum | FAP | nucleoside triphosphate metabolic process | 28/2622 | 112/18723 | 1.35e-03 | 1.24e-02 | 28 |
GO:00092063 | Colorectum | FAP | purine ribonucleoside triphosphate biosynthetic process | 19/2622 | 68/18723 | 1.97e-03 | 1.65e-02 | 19 |
GO:00092013 | Colorectum | FAP | ribonucleoside triphosphate biosynthetic process | 20/2622 | 74/18723 | 2.36e-03 | 1.88e-02 | 20 |
GO:00091423 | Colorectum | FAP | nucleoside triphosphate biosynthetic process | 22/2622 | 85/18723 | 2.66e-03 | 2.07e-02 | 22 |
GO:0051592 | Colorectum | FAP | response to calcium ion | 33/2622 | 149/18723 | 4.52e-03 | 3.08e-02 | 33 |
GO:00100384 | Colorectum | FAP | response to metal ion | 70/2622 | 373/18723 | 5.95e-03 | 3.75e-02 | 70 |
GO:00091505 | Colorectum | CRC | purine ribonucleotide metabolic process | 74/2078 | 368/18723 | 2.58e-07 | 2.38e-05 | 74 |
GO:00061635 | Colorectum | CRC | purine nucleotide metabolic process | 78/2078 | 396/18723 | 2.98e-07 | 2.59e-05 | 78 |
GO:00092594 | Colorectum | CRC | ribonucleotide metabolic process | 75/2078 | 385/18723 | 7.83e-07 | 5.04e-05 | 75 |
GO:00725215 | Colorectum | CRC | purine-containing compound metabolic process | 79/2078 | 416/18723 | 1.15e-06 | 6.75e-05 | 79 |
GO:00196934 | Colorectum | CRC | ribose phosphate metabolic process | 75/2078 | 396/18723 | 2.36e-06 | 1.13e-04 | 75 |
GO:00091175 | Colorectum | CRC | nucleotide metabolic process | 81/2078 | 489/18723 | 1.45e-04 | 2.65e-03 | 81 |
GO:00460345 | Colorectum | CRC | ATP metabolic process | 51/2078 | 277/18723 | 1.92e-04 | 3.30e-03 | 51 |
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 |