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 |
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 |
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:0034329110 | Skin | SCCIS | cell junction assembly | 52/919 | 420/18723 | 7.89e-10 | 5.23e-07 | 52 |
GO:0016049111 | Skin | SCCIS | cell growth | 49/919 | 482/18723 | 1.17e-06 | 7.78e-05 | 49 |
GO:005080814 | Skin | SCCIS | synapse organization | 42/919 | 426/18723 | 1.43e-05 | 4.70e-04 | 42 |
GO:1990778110 | Skin | SCCIS | protein localization to cell periphery | 35/919 | 333/18723 | 1.93e-05 | 5.84e-04 | 35 |
GO:190188816 | Skin | SCCIS | regulation of cell junction assembly | 22/919 | 204/18723 | 4.55e-04 | 7.28e-03 | 22 |
GO:0090150111 | Skin | SCCIS | establishment of protein localization to membrane | 26/919 | 260/18723 | 4.74e-04 | 7.47e-03 | 26 |
GO:0001558110 | Skin | SCCIS | regulation of cell growth | 36/919 | 414/18723 | 6.64e-04 | 9.62e-03 | 36 |
GO:190241413 | Skin | SCCIS | protein localization to cell junction | 13/919 | 94/18723 | 6.65e-04 | 9.62e-03 | 13 |
GO:00987421 | Skin | SCCIS | cell-cell adhesion via plasma-membrane adhesion molecules | 26/919 | 273/18723 | 9.83e-04 | 1.23e-02 | 26 |
GO:005196013 | Skin | SCCIS | regulation of nervous system development | 37/919 | 443/18723 | 1.18e-03 | 1.40e-02 | 37 |
GO:009015024 | Skin | cSCC | establishment of protein localization to membrane | 123/4864 | 260/18723 | 8.34e-14 | 5.18e-12 | 123 |
GO:199077824 | Skin | cSCC | protein localization to cell periphery | 134/4864 | 333/18723 | 7.09e-09 | 2.30e-07 | 134 |
GO:003150315 | Skin | cSCC | protein-containing complex localization | 95/4864 | 220/18723 | 2.00e-08 | 5.82e-07 | 95 |
GO:001604925 | Skin | cSCC | cell growth | 173/4864 | 482/18723 | 7.21e-07 | 1.34e-05 | 173 |
GO:009887617 | Skin | cSCC | vesicle-mediated transport to the plasma membrane | 59/4864 | 136/18723 | 7.60e-06 | 1.04e-04 | 59 |
GO:000155824 | Skin | cSCC | regulation of cell growth | 140/4864 | 414/18723 | 2.07e-04 | 1.72e-03 | 140 |
GO:005196213 | Skin | cSCC | positive regulation of nervous system development | 88/4864 | 272/18723 | 1.07e-02 | 4.66e-02 | 88 |
GO:001604926 | Thyroid | HT | cell growth | 58/1272 | 482/18723 | 1.56e-05 | 3.82e-04 | 58 |
GO:009015025 | Thyroid | HT | establishment of protein localization to membrane | 34/1272 | 260/18723 | 1.83e-04 | 2.69e-03 | 34 |
GO:003432920 | Thyroid | HT | cell junction assembly | 48/1272 | 420/18723 | 2.81e-04 | 3.84e-03 | 48 |
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 |
CLSTN1 | SNV | Missense_Mutation | rs751480577 | c.1498N>A | p.Val500Met | p.V500M | O94985 | protein_coding | tolerated(0.35) | probably_damaging(0.942) | TCGA-A2-A3XV-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
CLSTN1 | SNV | Missense_Mutation | rs201194236 | c.2146N>A | p.Asp716Asn | p.D716N | O94985 | protein_coding | tolerated(1) | benign(0.003) | TCGA-BH-A0HP-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | doxorubicin | SD |
CLSTN1 | SNV | Missense_Mutation | rs749257979 | c.2896N>A | p.Ala966Thr | p.A966T | O94985 | protein_coding | tolerated(0.32) | benign(0.001) | TCGA-D8-A1JA-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD |
CLSTN1 | SNV | Missense_Mutation | | c.1270N>T | p.Gly424Trp | p.G424W | O94985 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-EW-A6S9-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CLSTN1 | insertion | Frame_Shift_Ins | novel | c.1656dupG | p.Lys553GlufsTer48 | p.K553Efs*48 | O94985 | protein_coding | | | TCGA-BH-A0DP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD |
CLSTN1 | insertion | In_Frame_Ins | novel | c.1654_1655insCGCCAGTGCTTCCCAAACGACCCATGGGGA | p.Asp551_Lys552insThrProValLeuProLysArgProMetGly | p.D551_K552insTPVLPKRPMG | O94985 | protein_coding | | | TCGA-BH-A0DP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD |
CLSTN1 | insertion | Frame_Shift_Ins | novel | c.774_775insG | p.Pro259AlafsTer15 | p.P259Afs*15 | O94985 | protein_coding | | | TCGA-BH-A0H7-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | doxorubicin | SD |
CLSTN1 | insertion | Frame_Shift_Ins | novel | c.772_773insGACAGAGTCTCACTCTGTCACCC | p.Lys258ArgfsTer56 | p.K258Rfs*56 | O94985 | protein_coding | | | TCGA-BH-A0H7-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | doxorubicin | SD |
CLSTN1 | deletion | Frame_Shift_Del | novel | c.755delT | p.Leu252TrpfsTer2 | p.L252Wfs*2 | O94985 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
CLSTN1 | SNV | Missense_Mutation | rs778535987 | c.709G>A | p.Val237Ile | p.V237I | O94985 | protein_coding | tolerated(0.07) | probably_damaging(0.997) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |