Tissue | Expression Dynamics | Abbreviation |
Breast | | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
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 |
Prostate | | BPH: Benign Prostatic Hyperplasia |
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:005087813 | Breast | IDC | regulation of body fluid levels | 50/1434 | 379/18723 | 1.12e-04 | 2.10e-03 | 50 |
GO:001095913 | Breast | IDC | regulation of metal ion transport | 52/1434 | 406/18723 | 1.76e-04 | 2.97e-03 | 52 |
GO:00432703 | Breast | IDC | positive regulation of ion transport | 36/1434 | 275/18723 | 1.11e-03 | 1.22e-02 | 36 |
GO:005087823 | Breast | DCIS | regulation of body fluid levels | 50/1390 | 379/18723 | 5.17e-05 | 1.06e-03 | 50 |
GO:001095921 | Breast | DCIS | regulation of metal ion transport | 50/1390 | 406/18723 | 2.86e-04 | 4.22e-03 | 50 |
GO:004327011 | Breast | DCIS | positive regulation of ion transport | 34/1390 | 275/18723 | 2.35e-03 | 2.13e-02 | 34 |
GO:00030144 | Breast | DCIS | renal system process | 16/1390 | 110/18723 | 7.16e-03 | 4.85e-02 | 16 |
GO:0002028 | Colorectum | AD | regulation of sodium ion transport | 36/3918 | 90/18723 | 2.89e-05 | 5.37e-04 | 36 |
GO:0010765 | Colorectum | AD | positive regulation of sodium ion transport | 17/3918 | 35/18723 | 2.48e-04 | 3.13e-03 | 17 |
GO:0050878 | Colorectum | AD | regulation of body fluid levels | 108/3918 | 379/18723 | 2.54e-04 | 3.20e-03 | 108 |
GO:0003014 | Colorectum | AD | renal system process | 35/3918 | 110/18723 | 4.85e-03 | 3.27e-02 | 35 |
GO:0055067 | Colorectum | AD | monovalent inorganic cation homeostasis | 45/3918 | 151/18723 | 6.19e-03 | 3.88e-02 | 45 |
GO:0031056 | Colorectum | AD | regulation of histone modification | 45/3918 | 152/18723 | 7.05e-03 | 4.31e-02 | 45 |
GO:00020282 | Colorectum | MSS | regulation of sodium ion transport | 32/3467 | 90/18723 | 9.56e-05 | 1.50e-03 | 32 |
GO:00508782 | Colorectum | MSS | regulation of body fluid levels | 99/3467 | 379/18723 | 1.40e-04 | 2.07e-03 | 99 |
GO:00107652 | Colorectum | MSS | positive regulation of sodium ion transport | 15/3467 | 35/18723 | 7.59e-04 | 8.09e-03 | 15 |
GO:0016570 | Colorectum | MSS | histone modification | 113/3467 | 463/18723 | 8.37e-04 | 8.68e-03 | 113 |
GO:00310562 | Colorectum | MSS | regulation of histone modification | 41/3467 | 152/18723 | 6.41e-03 | 4.27e-02 | 41 |
GO:00020284 | Colorectum | FAP | regulation of sodium ion transport | 33/2622 | 90/18723 | 6.51e-08 | 4.54e-06 | 33 |
GO:00107654 | Colorectum | FAP | positive regulation of sodium ion transport | 16/2622 | 35/18723 | 5.99e-06 | 1.90e-04 | 16 |
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 |
MLLT6 | SNV | Missense_Mutation | novel | c.877N>A | p.Glu293Lys | p.E293K | | protein_coding | tolerated(0.08) | probably_damaging(0.953) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
MLLT6 | insertion | Frame_Shift_Ins | novel | c.997_998insGTAAAGA | p.Ser333CysfsTer24 | p.S333Cfs*24 | | protein_coding | | | TCGA-AQ-A04J-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
MLLT6 | insertion | Frame_Shift_Ins | novel | c.998_999insACTGACACTTATCGACGTTGAGA | p.Ser334LeufsTer123 | p.S334Lfs*123 | | protein_coding | | | TCGA-AQ-A04J-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
MLLT6 | deletion | Frame_Shift_Del | novel | c.609_619delCAGCATGGGGG | p.Ser204ArgfsTer42 | p.S204Rfs*42 | | protein_coding | | | TCGA-B6-A409-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | PD |
MLLT6 | deletion | Frame_Shift_Del | novel | c.1382_1392delNNNNNNNNNNN | p.Thr461ArgfsTer92 | p.T461Rfs*92 | | protein_coding | | | TCGA-C8-A12V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MLLT6 | SNV | Missense_Mutation | novel | c.235N>C | p.Asp79His | p.D79H | | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-EK-A2PL-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD |
MLLT6 | SNV | Missense_Mutation | novel | c.228N>C | p.Lys76Asn | p.K76N | | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-HM-A4S6-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | CR |
MLLT6 | SNV | Missense_Mutation | novel | c.1831C>G | p.Gln611Glu | p.Q611E | | protein_coding | deleterious(0) | probably_damaging(0.939) | TCGA-IR-A3LK-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | PD |
MLLT6 | SNV | Missense_Mutation | novel | c.1927N>A | p.Glu643Lys | p.E643K | | protein_coding | deleterious(0) | probably_damaging(0.99) | TCGA-MY-A5BF-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | CR |
MLLT6 | SNV | Missense_Mutation | novel | c.1330N>T | p.Arg444Trp | p.R444W | | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-AA-3492-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |