Tissue | Expression Dynamics | Abbreviation |
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 |
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:003011116 | Esophagus | HGIN | regulation of Wnt signaling pathway | 65/2587 | 328/18723 | 1.53e-03 | 1.77e-02 | 65 |
GO:001605516 | Esophagus | HGIN | Wnt signaling pathway | 83/2587 | 444/18723 | 2.27e-03 | 2.33e-02 | 83 |
GO:000703416 | Esophagus | HGIN | vacuolar transport | 35/2587 | 157/18723 | 2.52e-03 | 2.51e-02 | 35 |
GO:019873816 | Esophagus | HGIN | cell-cell signaling by wnt | 83/2587 | 446/18723 | 2.58e-03 | 2.55e-02 | 83 |
GO:000703417 | Esophagus | ESCC | vacuolar transport | 119/8552 | 157/18723 | 1.16e-14 | 6.30e-13 | 119 |
GO:001605517 | Esophagus | ESCC | Wnt signaling pathway | 268/8552 | 444/18723 | 2.32e-10 | 6.58e-09 | 268 |
GO:019873817 | Esophagus | ESCC | cell-cell signaling by wnt | 269/8552 | 446/18723 | 2.41e-10 | 6.79e-09 | 269 |
GO:00070419 | Esophagus | ESCC | lysosomal transport | 83/8552 | 114/18723 | 3.52e-09 | 7.41e-08 | 83 |
GO:003011117 | Esophagus | ESCC | regulation of Wnt signaling pathway | 194/8552 | 328/18723 | 5.39e-07 | 7.14e-06 | 194 |
GO:00083333 | Esophagus | ESCC | endosome to lysosome transport | 40/8552 | 55/18723 | 4.27e-05 | 3.42e-04 | 40 |
GO:00301788 | Esophagus | ESCC | negative regulation of Wnt signaling pathway | 97/8552 | 170/18723 | 1.81e-03 | 8.31e-03 | 97 |
GO:000703411 | Liver | Cirrhotic | vacuolar transport | 75/4634 | 157/18723 | 3.13e-10 | 1.53e-08 | 75 |
GO:000704111 | Liver | Cirrhotic | lysosomal transport | 50/4634 | 114/18723 | 6.15e-06 | 9.82e-05 | 50 |
GO:001605511 | Liver | Cirrhotic | Wnt signaling pathway | 150/4634 | 444/18723 | 9.75e-06 | 1.42e-04 | 150 |
GO:019873811 | Liver | Cirrhotic | cell-cell signaling by wnt | 150/4634 | 446/18723 | 1.28e-05 | 1.80e-04 | 150 |
GO:003011111 | Liver | Cirrhotic | regulation of Wnt signaling pathway | 112/4634 | 328/18723 | 7.57e-05 | 8.40e-04 | 112 |
GO:0008333 | Liver | Cirrhotic | endosome to lysosome transport | 24/4634 | 55/18723 | 1.67e-03 | 1.07e-02 | 24 |
GO:000703421 | Liver | HCC | vacuolar transport | 108/7958 | 157/18723 | 2.22e-11 | 8.69e-10 | 108 |
GO:019873821 | Liver | HCC | cell-cell signaling by wnt | 247/7958 | 446/18723 | 2.11e-08 | 4.96e-07 | 247 |
GO:001605521 | Liver | HCC | Wnt signaling pathway | 245/7958 | 444/18723 | 3.68e-08 | 8.09e-07 | 245 |
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 |
HMGXB4 | SNV | Missense_Mutation | | c.1010N>G | p.Lys337Arg | p.K337R | Q9UGU5 | protein_coding | tolerated(0.14) | benign(0) | TCGA-D8-A1J9-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
HMGXB4 | insertion | In_Frame_Ins | novel | c.126_127insCTCTTAGTTTATTGGGGT | p.Arg42_Glu43insLeuLeuValTyrTrpGly | p.R42_E43insLLVYWG | Q9UGU5 | protein_coding | | | TCGA-A2-A0D1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | taxotere | SD |
HMGXB4 | insertion | Frame_Shift_Ins | novel | c.122dupT | p.Leu41PhefsTer22 | p.L41Ffs*22 | Q9UGU5 | protein_coding | | | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
HMGXB4 | SNV | Missense_Mutation | novel | c.361N>A | p.Ala121Thr | p.A121T | Q9UGU5 | protein_coding | deleterious_low_confidence(0.03) | possibly_damaging(0.589) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
HMGXB4 | SNV | Missense_Mutation | novel | c.1621N>T | p.Arg541Cys | p.R541C | Q9UGU5 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
HMGXB4 | SNV | Missense_Mutation | novel | c.584N>G | p.Ile195Ser | p.I195S | Q9UGU5 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-EA-A3HU-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
HMGXB4 | SNV | Missense_Mutation | rs757502367 | c.553N>T | p.Arg185Trp | p.R185W | Q9UGU5 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-FU-A3WB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
HMGXB4 | SNV | Missense_Mutation | | c.244N>A | p.Asp82Asn | p.D82N | Q9UGU5 | protein_coding | tolerated(0.14) | possibly_damaging(0.877) | TCGA-JX-A3Q0-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD |
HMGXB4 | SNV | Missense_Mutation | novel | c.943G>C | p.Glu315Gln | p.E315Q | Q9UGU5 | protein_coding | deleterious(0.01) | possibly_damaging(0.702) | TCGA-VS-A9UH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
HMGXB4 | insertion | In_Frame_Ins | novel | c.559_560insCTGATGGTTTAAAAATGAAACTTATTCTGTCACCAAAGGAGAAGGGAAGCAGCT | p.Asp188_Ser205dup | p.D188_S205dup | Q9UGU5 | protein_coding | | | TCGA-LP-A7HU-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |