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 |
Liver | | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
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:0009150 | Colorectum | AD | purine ribonucleotide metabolic process | 142/3918 | 368/18723 | 4.29e-15 | 1.17e-12 | 142 |
GO:0006163 | Colorectum | AD | purine nucleotide metabolic process | 149/3918 | 396/18723 | 1.08e-14 | 2.80e-12 | 149 |
GO:0072521 | Colorectum | AD | purine-containing compound metabolic process | 153/3918 | 416/18723 | 4.34e-14 | 1.01e-11 | 153 |
GO:0009259 | Colorectum | AD | ribonucleotide metabolic process | 144/3918 | 385/18723 | 5.25e-14 | 1.13e-11 | 144 |
GO:0019693 | Colorectum | AD | ribose phosphate metabolic process | 145/3918 | 396/18723 | 3.01e-13 | 5.71e-11 | 145 |
GO:0009117 | Colorectum | AD | nucleotide metabolic process | 168/3918 | 489/18723 | 2.20e-12 | 3.36e-10 | 168 |
GO:0006753 | Colorectum | AD | nucleoside phosphate metabolic process | 169/3918 | 497/18723 | 4.99e-12 | 6.98e-10 | 169 |
GO:0006631 | Colorectum | AD | fatty acid metabolic process | 114/3918 | 390/18723 | 5.58e-05 | 9.44e-04 | 114 |
GO:0006790 | Colorectum | AD | sulfur compound metabolic process | 101/3918 | 339/18723 | 6.46e-05 | 1.07e-03 | 101 |
GO:0033865 | Colorectum | AD | nucleoside bisphosphate metabolic process | 42/3918 | 128/18723 | 1.12e-03 | 1.02e-02 | 42 |
GO:0033875 | Colorectum | AD | ribonucleoside bisphosphate metabolic process | 42/3918 | 128/18723 | 1.12e-03 | 1.02e-02 | 42 |
GO:0034032 | Colorectum | AD | purine nucleoside bisphosphate metabolic process | 42/3918 | 128/18723 | 1.12e-03 | 1.02e-02 | 42 |
GO:00091504 | Colorectum | FAP | purine ribonucleotide metabolic process | 96/2622 | 368/18723 | 4.91e-10 | 1.20e-07 | 96 |
GO:00061634 | Colorectum | FAP | purine nucleotide metabolic process | 100/2622 | 396/18723 | 1.45e-09 | 2.77e-07 | 100 |
GO:00092593 | Colorectum | FAP | ribonucleotide metabolic process | 97/2622 | 385/18723 | 2.90e-09 | 5.07e-07 | 97 |
GO:00725214 | Colorectum | FAP | purine-containing compound metabolic process | 101/2622 | 416/18723 | 1.11e-08 | 1.33e-06 | 101 |
GO:00196933 | Colorectum | FAP | ribose phosphate metabolic process | 97/2622 | 396/18723 | 1.35e-08 | 1.51e-06 | 97 |
GO:00091174 | Colorectum | FAP | nucleotide metabolic process | 105/2622 | 489/18723 | 3.52e-06 | 1.25e-04 | 105 |
GO:00067534 | Colorectum | FAP | nucleoside phosphate metabolic process | 105/2622 | 497/18723 | 7.47e-06 | 2.25e-04 | 105 |
GO:00066313 | Colorectum | FAP | fatty acid metabolic process | 81/2622 | 390/18723 | 1.43e-04 | 2.24e-03 | 81 |
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 |
ACSF2 | SNV | Missense_Mutation | rs770288175 | c.1744N>T | p.Arg582Trp | p.R582W | Q96CM8 | protein_coding | deleterious(0.02) | probably_damaging(0.997) | TCGA-D8-A1J9-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ACSF2 | SNV | Missense_Mutation | | c.1700G>C | p.Gly567Ala | p.G567A | Q96CM8 | protein_coding | deleterious(0) | probably_damaging(0.948) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD |
ACSF2 | insertion | Frame_Shift_Ins | novel | c.1798_1799insAA | p.Gly600GlufsTer40 | p.G600Efs*40 | Q96CM8 | protein_coding | | | TCGA-A8-A07U-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | 5-fluorouracil | SD |
ACSF2 | insertion | In_Frame_Ins | novel | c.1799_1800insATGTCTGGAGACATTTGAGCTGAGACCTGGAAA | p.Gly600_Lys601insCysLeuGluThrPheGluLeuArgProGlyLys | p.G600_K601insCLETFELRPGK | Q96CM8 | protein_coding | | | TCGA-A8-A07U-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | 5-fluorouracil | SD |
ACSF2 | insertion | Frame_Shift_Ins | novel | c.1053_1054insTCAGGCAGGGGTGGGGGGCTGGCTGGGCTCCCCTTGCCAGCTAGAGA | p.Ala352SerfsTer54 | p.A352Sfs*54 | Q96CM8 | protein_coding | | | TCGA-A8-A091-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | PD |
ACSF2 | SNV | Missense_Mutation | novel | c.1087N>A | p.Gly363Ser | p.G363S | Q96CM8 | protein_coding | tolerated(0.15) | benign(0.241) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
ACSF2 | SNV | Missense_Mutation | | c.553G>A | p.Ala185Thr | p.A185T | Q96CM8 | protein_coding | tolerated(0.63) | benign(0.06) | TCGA-LP-A5U2-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD |
ACSF2 | SNV | Missense_Mutation | rs780707588 | c.640N>A | p.Val214Ile | p.V214I | Q96CM8 | protein_coding | tolerated(0.55) | benign(0) | TCGA-MA-AA3W-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
ACSF2 | SNV | Missense_Mutation | novel | c.1083C>A | p.Phe361Leu | p.F361L | Q96CM8 | protein_coding | deleterious(0) | probably_damaging(0.977) | TCGA-VS-A8EK-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | PD |
ACSF2 | SNV | Missense_Mutation | novel | c.1073N>G | p.Ser358Cys | p.S358C | Q96CM8 | protein_coding | deleterious(0.04) | probably_damaging(0.998) | TCGA-VS-A8QA-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |