Tissue | Expression Dynamics | Abbreviation |
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 |
GC | | CAG: Chronic atrophic gastritis |
CAG with IM: Chronic atrophic gastritis with intestinal metaplasia |
CSG: Chronic superficial gastritis |
GC: Gastric cancer |
SIM: Severe intestinal metaplasia |
WIM: Wild intestinal metaplasia |
Liver | | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0007015 | Colorectum | AD | actin filament organization | 167/3918 | 442/18723 | 1.65e-16 | 7.94e-14 | 167 |
GO:0032535 | Colorectum | AD | regulation of cellular component size | 142/3918 | 383/18723 | 1.74e-13 | 3.41e-11 | 142 |
GO:0061572 | Colorectum | AD | actin filament bundle organization | 60/3918 | 161/18723 | 1.33e-06 | 4.23e-05 | 60 |
GO:0051017 | Colorectum | AD | actin filament bundle assembly | 58/3918 | 157/18723 | 2.74e-06 | 7.89e-05 | 58 |
GO:0032530 | Colorectum | AD | regulation of microvillus organization | 10/3918 | 13/18723 | 2.43e-05 | 4.69e-04 | 10 |
GO:0032528 | Colorectum | AD | microvillus organization | 14/3918 | 24/18723 | 6.90e-05 | 1.11e-03 | 14 |
GO:0060249 | Colorectum | AD | anatomical structure homeostasis | 94/3918 | 314/18723 | 9.37e-05 | 1.42e-03 | 94 |
GO:0001894 | Colorectum | AD | tissue homeostasis | 81/3918 | 268/18723 | 1.96e-04 | 2.62e-03 | 81 |
GO:0035315 | Colorectum | AD | hair cell differentiation | 21/3918 | 47/18723 | 2.14e-04 | 2.82e-03 | 21 |
GO:0042491 | Colorectum | AD | inner ear auditory receptor cell differentiation | 17/3918 | 38/18723 | 8.26e-04 | 8.13e-03 | 17 |
GO:0042490 | Colorectum | AD | mechanoreceptor differentiation | 24/3918 | 67/18723 | 3.48e-03 | 2.52e-02 | 24 |
GO:0048568 | Colorectum | AD | embryonic organ development | 112/3918 | 427/18723 | 4.60e-03 | 3.14e-02 | 112 |
GO:0009913 | Colorectum | AD | epidermal cell differentiation | 58/3918 | 202/18723 | 5.16e-03 | 3.42e-02 | 58 |
GO:0008544 | Colorectum | AD | epidermis development | 87/3918 | 324/18723 | 5.99e-03 | 3.76e-02 | 87 |
GO:0060119 | Colorectum | AD | inner ear receptor cell development | 17/3918 | 45/18723 | 7.10e-03 | 4.33e-02 | 17 |
GO:00070151 | Colorectum | SER | actin filament organization | 134/2897 | 442/18723 | 1.39e-15 | 5.70e-13 | 134 |
GO:00325351 | Colorectum | SER | regulation of cellular component size | 115/2897 | 383/18723 | 3.04e-13 | 1.10e-10 | 115 |
GO:00325301 | Colorectum | SER | regulation of microvillus organization | 10/2897 | 13/18723 | 1.41e-06 | 6.46e-05 | 10 |
GO:00325281 | Colorectum | SER | microvillus organization | 14/2897 | 24/18723 | 1.83e-06 | 7.80e-05 | 14 |
GO:00615721 | Colorectum | SER | actin filament bundle organization | 48/2897 | 161/18723 | 2.97e-06 | 1.19e-04 | 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 |
USH1C | SNV | Missense_Mutation | | c.1104N>T | p.Glu368Asp | p.E368D | Q9Y6N9 | protein_coding | tolerated_low_confidence(0.07) | benign(0.026) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
USH1C | SNV | Missense_Mutation | rs749460267 | c.2585N>T | p.Pro862Leu | p.P862L | Q9Y6N9 | protein_coding | tolerated_low_confidence(0.33) | benign(0) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
USH1C | SNV | Missense_Mutation | rs770171347 | c.2261G>A | p.Arg754Gln | p.R754Q | Q9Y6N9 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.987) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
USH1C | SNV | Missense_Mutation | novel | c.1995N>A | p.Ser665Arg | p.S665R | Q9Y6N9 | protein_coding | tolerated_low_confidence(0.12) | benign(0.031) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
USH1C | SNV | Missense_Mutation | rs778700091 | c.1871N>T | p.Ser624Leu | p.S624L | Q9Y6N9 | protein_coding | tolerated_low_confidence(0.12) | benign(0) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
USH1C | SNV | Missense_Mutation | rs759009035 | c.1198N>T | p.Arg400Cys | p.R400C | Q9Y6N9 | protein_coding | tolerated_low_confidence(0.06) | benign(0.2) | TCGA-EO-A3AY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
USH1C | SNV | Missense_Mutation | novel | c.1392N>T | p.Lys464Asn | p.K464N | Q9Y6N9 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.941) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
USH1C | SNV | Missense_Mutation | novel | c.1884A>C | p.Glu628Asp | p.E628D | Q9Y6N9 | protein_coding | tolerated_low_confidence(0.17) | benign(0.01) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
USH1C | SNV | Missense_Mutation | rs372497947 | c.188N>A | p.Arg63Gln | p.R63Q | Q9Y6N9 | protein_coding | deleterious(0.01) | possibly_damaging(0.858) | TCGA-PG-A6IB-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
USH1C | SNV | Missense_Mutation | novel | c.1089T>G | p.Ile363Met | p.I363M | Q9Y6N9 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.972) | TCGA-QS-A5YQ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | CR |