Tissue | Expression Dynamics | Abbreviation |
Breast | | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
Cervix | | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
Endometrium | | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
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:000223718 | Oral cavity | LP | response to molecule of bacterial origin | 115/4623 | 363/18723 | 1.42e-03 | 1.13e-02 | 115 |
GO:003543712 | Oral cavity | LP | maintenance of protein localization in endoplasmic reticulum | 9/4623 | 14/18723 | 1.95e-03 | 1.45e-02 | 9 |
GO:19012641 | Oral cavity | LP | carbohydrate derivative transport | 31/4623 | 80/18723 | 3.69e-03 | 2.44e-02 | 31 |
GO:006013515 | Oral cavity | LP | maternal process involved in female pregnancy | 25/4623 | 62/18723 | 4.74e-03 | 3.00e-02 | 25 |
GO:003001017 | Oral cavity | LP | establishment of cell polarity | 49/4623 | 143/18723 | 6.33e-03 | 3.73e-02 | 49 |
GO:006145818 | Oral cavity | LP | reproductive system development | 128/4623 | 427/18723 | 6.91e-03 | 3.96e-02 | 128 |
GO:004860817 | Oral cavity | LP | reproductive structure development | 127/4623 | 424/18723 | 7.31e-03 | 4.08e-02 | 127 |
GO:000756515 | Oral cavity | LP | female pregnancy | 63/4623 | 193/18723 | 7.56e-03 | 4.17e-02 | 63 |
GO:004217629 | Skin | cSCC | regulation of protein catabolic process | 198/4864 | 391/18723 | 6.03e-26 | 1.89e-23 | 198 |
GO:005165624 | Skin | cSCC | establishment of organelle localization | 178/4864 | 390/18723 | 2.18e-17 | 2.32e-15 | 178 |
GO:190285016 | Skin | cSCC | microtubule cytoskeleton organization involved in mitosis | 85/4864 | 147/18723 | 2.66e-16 | 2.39e-14 | 85 |
GO:000989628 | Skin | cSCC | positive regulation of catabolic process | 206/4864 | 492/18723 | 6.06e-15 | 4.64e-13 | 206 |
GO:004573229 | Skin | cSCC | positive regulation of protein catabolic process | 112/4864 | 231/18723 | 1.37e-13 | 8.40e-12 | 112 |
GO:001593119 | Skin | cSCC | nucleobase-containing compound transport | 105/4864 | 222/18723 | 5.49e-12 | 2.89e-10 | 105 |
GO:000716327 | Skin | cSCC | establishment or maintenance of cell polarity | 103/4864 | 218/18723 | 9.44e-12 | 4.85e-10 | 103 |
GO:1904951112 | Skin | cSCC | positive regulation of establishment of protein localization | 134/4864 | 319/18723 | 2.60e-10 | 1.09e-08 | 134 |
GO:007121425 | Skin | cSCC | cellular response to abiotic stimulus | 135/4864 | 331/18723 | 2.26e-09 | 8.11e-08 | 135 |
GO:010400425 | Skin | cSCC | cellular response to environmental stimulus | 135/4864 | 331/18723 | 2.26e-09 | 8.11e-08 | 135 |
GO:0051222112 | Skin | cSCC | positive regulation of protein transport | 125/4864 | 303/18723 | 3.88e-09 | 1.32e-07 | 125 |
GO:0043123110 | Skin | cSCC | positive regulation of I-kappaB kinase/NF-kappaB signaling | 84/4864 | 186/18723 | 1.09e-08 | 3.40e-07 | 84 |
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 |
GJA1 | SNV | Missense_Mutation | | c.380N>G | p.Leu127Trp | p.L127W | P17302 | protein_coding | deleterious(0.02) | possibly_damaging(0.849) | TCGA-A2-A0EO-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
GJA1 | SNV | Missense_Mutation | novel | c.359N>C | p.Gly120Ala | p.G120A | P17302 | protein_coding | tolerated(0.11) | benign(0.063) | TCGA-A8-A09X-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
GJA1 | SNV | Missense_Mutation | rs774210184 | c.826N>A | p.Ala276Thr | p.A276T | P17302 | protein_coding | tolerated(0.17) | benign(0.432) | TCGA-AC-A7VB-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
GJA1 | SNV | Missense_Mutation | novel | c.548C>A | p.Ala183Asp | p.A183D | P17302 | protein_coding | deleterious(0) | possibly_damaging(0.765) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GJA1 | SNV | Missense_Mutation | rs759494167 | c.956G>A | p.Arg319Gln | p.R319Q | P17302 | protein_coding | tolerated(0.61) | benign(0.007) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GJA1 | SNV | Missense_Mutation | | c.950N>G | p.Gln317Arg | p.Q317R | P17302 | protein_coding | tolerated(0.25) | possibly_damaging(0.895) | TCGA-AN-A0XU-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
GJA1 | insertion | Frame_Shift_Ins | novel | c.568_569insT | p.Asp190ValfsTer38 | p.D190Vfs*38 | P17302 | protein_coding | | | TCGA-A8-A08H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GJA1 | insertion | In_Frame_Ins | novel | c.570_571insATTTCCATACAG | p.Asp190_Pro191insIleSerIleGln | p.D190_P191insISIQ | P17302 | protein_coding | | | TCGA-A8-A08H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GJA1 | SNV | Missense_Mutation | | c.119C>T | p.Ala40Val | p.A40V | P17302 | protein_coding | deleterious(0) | probably_damaging(0.99) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
GJA1 | SNV | Missense_Mutation | | c.989N>T | p.Ser330Phe | p.S330F | P17302 | protein_coding | deleterious(0) | benign(0.336) | TCGA-DG-A2KK-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |