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:0043409110 | Esophagus | ESCC | negative regulation of MAPK cascade | 105/8552 | 180/18723 | 4.13e-04 | 2.35e-03 | 105 |
GO:00085935 | Esophagus | ESCC | regulation of Notch signaling pathway | 59/8552 | 95/18723 | 9.12e-04 | 4.65e-03 | 59 |
GO:190002420 | Esophagus | ESCC | regulation of substrate adhesion-dependent cell spreading | 38/8552 | 57/18723 | 1.11e-03 | 5.56e-03 | 38 |
GO:003223120 | Esophagus | ESCC | regulation of actin filament bundle assembly | 64/8552 | 105/18723 | 1.15e-03 | 5.70e-03 | 64 |
GO:000166720 | Esophagus | ESCC | ameboidal-type cell migration | 250/8552 | 475/18723 | 1.22e-03 | 5.97e-03 | 250 |
GO:003223319 | Esophagus | ESCC | positive regulation of actin filament bundle assembly | 41/8552 | 63/18723 | 1.48e-03 | 6.99e-03 | 41 |
GO:00107619 | Esophagus | ESCC | fibroblast migration | 32/8552 | 47/18723 | 1.59e-03 | 7.43e-03 | 32 |
GO:005149225 | Esophagus | ESCC | regulation of stress fiber assembly | 56/8552 | 91/18723 | 1.66e-03 | 7.68e-03 | 56 |
GO:003444620 | Esophagus | ESCC | substrate adhesion-dependent cell spreading | 65/8552 | 108/18723 | 1.67e-03 | 7.72e-03 | 65 |
GO:00903142 | Esophagus | ESCC | positive regulation of protein targeting to membrane | 22/8552 | 30/18723 | 1.98e-03 | 8.90e-03 | 22 |
GO:00512244 | Esophagus | ESCC | negative regulation of protein transport | 74/8552 | 127/18723 | 2.86e-03 | 1.21e-02 | 74 |
GO:19049505 | Esophagus | ESCC | negative regulation of establishment of protein localization | 76/8552 | 131/18723 | 2.96e-03 | 1.24e-02 | 76 |
GO:00336275 | Esophagus | ESCC | cell adhesion mediated by integrin | 45/8552 | 72/18723 | 2.97e-03 | 1.24e-02 | 45 |
GO:00323875 | Esophagus | ESCC | negative regulation of intracellular transport | 37/8552 | 58/18723 | 4.12e-03 | 1.64e-02 | 37 |
GO:01501178 | Esophagus | ESCC | positive regulation of cell-substrate junction organization | 23/8552 | 33/18723 | 4.57e-03 | 1.78e-02 | 23 |
GO:003103219 | Esophagus | ESCC | actomyosin structure organization | 108/8552 | 196/18723 | 4.86e-03 | 1.88e-02 | 108 |
GO:00903174 | Esophagus | ESCC | negative regulation of intracellular protein transport | 28/8552 | 42/18723 | 4.90e-03 | 1.89e-02 | 28 |
GO:011002025 | Esophagus | ESCC | regulation of actomyosin structure organization | 59/8552 | 100/18723 | 4.98e-03 | 1.91e-02 | 59 |
GO:004308715 | Esophagus | ESCC | regulation of GTPase activity | 183/8552 | 348/18723 | 5.34e-03 | 2.00e-02 | 183 |
GO:00069294 | Esophagus | ESCC | substrate-dependent cell migration | 17/8552 | 23/18723 | 5.73e-03 | 2.13e-02 | 17 |
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 |
ITGB1BP1 | SNV | Missense_Mutation | | c.592N>A | p.Glu198Lys | p.E198K | O14713 | protein_coding | tolerated(0.25) | benign(0.185) | TCGA-D8-A1XQ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ITGB1BP1 | SNV | Missense_Mutation | | c.83N>G | p.Ser28Cys | p.S28C | O14713 | protein_coding | tolerated(0.12) | probably_damaging(0.996) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
ITGB1BP1 | SNV | Missense_Mutation | rs773209764 | c.8G>A | p.Arg3His | p.R3H | O14713 | protein_coding | deleterious_low_confidence(0.01) | probably_damaging(0.991) | TCGA-AA-A00N-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
ITGB1BP1 | SNV | Missense_Mutation | | c.83N>A | p.Ser28Tyr | p.S28Y | O14713 | protein_coding | deleterious(0.03) | probably_damaging(0.995) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
ITGB1BP1 | SNV | Missense_Mutation | rs376533619 | c.317C>T | p.Pro106Leu | p.P106L | O14713 | protein_coding | tolerated(0.31) | benign(0.007) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ITGB1BP1 | SNV | Missense_Mutation | novel | c.29N>A | p.Ser10Asn | p.S10N | O14713 | protein_coding | tolerated_low_confidence(0.19) | probably_damaging(0.95) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
ITGB1BP1 | SNV | Missense_Mutation | novel | c.122G>A | p.Ser41Asn | p.S41N | O14713 | protein_coding | deleterious(0.03) | probably_damaging(0.988) | TCGA-B5-A1MX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Hormone Therapy | megace | SD |
ITGB1BP1 | SNV | Missense_Mutation | novel | c.526N>G | p.Ser176Gly | p.S176G | O14713 | protein_coding | tolerated(0.13) | possibly_damaging(0.59) | TCGA-BK-A6W3-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ITGB1BP1 | SNV | Missense_Mutation | novel | c.439G>A | p.Gly147Ser | p.G147S | O14713 | protein_coding | tolerated(0.27) | probably_damaging(0.999) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ITGB1BP1 | SNV | Missense_Mutation | rs771640299 | c.568N>A | p.Ala190Thr | p.A190T | O14713 | protein_coding | tolerated(0.21) | benign(0.207) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |