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 |
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 |
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:00016676 | Liver | NAFLD | ameboidal-type cell migration | 65/1882 | 475/18723 | 6.32e-03 | 4.69e-02 | 65 |
GO:00308337 | Liver | NAFLD | regulation of actin filament polymerization | 28/1882 | 172/18723 | 7.15e-03 | 4.96e-02 | 28 |
GO:004325412 | Liver | Cirrhotic | regulation of protein-containing complex assembly | 169/4634 | 428/18723 | 7.40e-12 | 4.99e-10 | 169 |
GO:000701512 | Liver | Cirrhotic | actin filament organization | 171/4634 | 442/18723 | 3.93e-11 | 2.30e-09 | 171 |
GO:002260412 | Liver | Cirrhotic | regulation of cell morphogenesis | 127/4634 | 309/18723 | 1.45e-10 | 7.44e-09 | 127 |
GO:190290312 | Liver | Cirrhotic | regulation of supramolecular fiber organization | 148/4634 | 383/18723 | 8.85e-10 | 4.08e-08 | 148 |
GO:003297012 | Liver | Cirrhotic | regulation of actin filament-based process | 152/4634 | 397/18723 | 1.12e-09 | 5.00e-08 | 152 |
GO:003295612 | Liver | Cirrhotic | regulation of actin cytoskeleton organization | 136/4634 | 358/18723 | 1.47e-08 | 5.49e-07 | 136 |
GO:004206012 | Liver | Cirrhotic | wound healing | 155/4634 | 422/18723 | 2.12e-08 | 7.56e-07 | 155 |
GO:005125812 | Liver | Cirrhotic | protein polymerization | 116/4634 | 297/18723 | 2.87e-08 | 9.78e-07 | 116 |
GO:00313337 | Liver | Cirrhotic | negative regulation of protein-containing complex assembly | 64/4634 | 141/18723 | 7.08e-08 | 2.14e-06 | 64 |
GO:011005312 | Liver | Cirrhotic | regulation of actin filament organization | 108/4634 | 278/18723 | 1.17e-07 | 3.32e-06 | 108 |
GO:004343412 | Liver | Cirrhotic | response to peptide hormone | 149/4634 | 414/18723 | 1.70e-07 | 4.49e-06 | 149 |
GO:190303611 | Liver | Cirrhotic | positive regulation of response to wounding | 38/4634 | 72/18723 | 2.98e-07 | 7.18e-06 | 38 |
GO:009030311 | Liver | Cirrhotic | positive regulation of wound healing | 33/4634 | 59/18723 | 3.00e-07 | 7.21e-06 | 33 |
GO:007137511 | Liver | Cirrhotic | cellular response to peptide hormone stimulus | 110/4634 | 290/18723 | 3.73e-07 | 8.82e-06 | 110 |
GO:003227112 | Liver | Cirrhotic | regulation of protein polymerization | 92/4634 | 233/18723 | 4.25e-07 | 9.86e-06 | 92 |
GO:001081012 | Liver | Cirrhotic | regulation of cell-substrate adhesion | 88/4634 | 221/18723 | 4.89e-07 | 1.10e-05 | 88 |
GO:000815412 | Liver | Cirrhotic | actin polymerization or depolymerization | 86/4634 | 218/18723 | 1.04e-06 | 2.13e-05 | 86 |
GO:190165311 | Liver | Cirrhotic | cellular response to peptide | 129/4634 | 359/18723 | 1.23e-06 | 2.49e-05 | 129 |
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 |
KANK1 | SNV | Missense_Mutation | rs761714605 | c.2255N>T | p.Ser752Leu | p.S752L | Q14678 | protein_coding | deleterious(0.01) | benign(0.219) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
KANK1 | SNV | Missense_Mutation | rs775231755 | c.3806N>T | p.Thr1269Met | p.T1269M | Q14678 | protein_coding | deleterious(0) | probably_damaging(0.989) | TCGA-AC-A62V-01 | Breast | breast invasive carcinoma | Male | <65 | III/IV | Targeted Molecular therapy | denosumab | PD |
KANK1 | SNV | Missense_Mutation | novel | c.2756N>T | p.Ser919Ile | p.S919I | Q14678 | protein_coding | tolerated(0.2) | benign(0.08) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
KANK1 | SNV | Missense_Mutation | | c.2482N>C | p.Glu828Gln | p.E828Q | Q14678 | protein_coding | tolerated(0.08) | probably_damaging(0.981) | TCGA-AO-A03O-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | doxorubicin | SD |
KANK1 | SNV | Missense_Mutation | novel | c.3775N>A | p.Asp1259Asn | p.D1259N | Q14678 | protein_coding | deleterious(0.04) | possibly_damaging(0.737) | TCGA-BH-A0B6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
KANK1 | SNV | Missense_Mutation | novel | c.2071N>T | p.Leu691Phe | p.L691F | Q14678 | protein_coding | tolerated(0.41) | benign(0.003) | TCGA-BH-A0E1-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
KANK1 | SNV | Missense_Mutation | novel | c.847N>G | p.Thr283Ala | p.T283A | Q14678 | protein_coding | tolerated(0.09) | probably_damaging(0.917) | TCGA-BH-A0HA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
KANK1 | SNV | Missense_Mutation | | c.3232N>A | p.Glu1078Lys | p.E1078K | Q14678 | protein_coding | deleterious(0.04) | benign(0.147) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
KANK1 | SNV | Missense_Mutation | novel | c.908C>T | p.Ser303Leu | p.S303L | Q14678 | protein_coding | deleterious(0.03) | benign(0.005) | TCGA-E2-A2P6-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |
KANK1 | SNV | Missense_Mutation | novel | c.1960G>A | p.Ala654Thr | p.A654T | Q14678 | protein_coding | tolerated(0.62) | benign(0) | TCGA-OL-A5RW-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |