Tissue | Expression Dynamics | Abbreviation |
Colorectum (GSE201348) | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Colorectum/Becker/USH1C_pca_on_diff_genes.png) | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Colorectum/Chen/USH1C_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
GC | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/GC/USH1C_pca_on_diff_genes.png) | 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 | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Liver/USH1C_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00085442 | Colorectum | CRC | epidermis development | 57/2078 | 324/18723 | 2.88e-04 | 4.59e-03 | 57 |
GO:00018945 | Colorectum | CRC | tissue homeostasis | 48/2078 | 268/18723 | 5.56e-04 | 7.70e-03 | 48 |
GO:00485931 | Colorectum | CRC | camera-type eye morphogenesis | 25/2078 | 120/18723 | 1.37e-03 | 1.50e-02 | 25 |
GO:00099133 | Colorectum | CRC | epidermal cell differentiation | 37/2078 | 202/18723 | 1.50e-03 | 1.59e-02 | 37 |
GO:0048592 | Colorectum | CRC | eye morphogenesis | 29/2078 | 151/18723 | 2.23e-03 | 2.17e-02 | 29 |
GO:00353154 | Colorectum | CRC | hair cell differentiation | 12/2078 | 47/18723 | 4.33e-03 | 3.47e-02 | 12 |
GO:00485683 | Colorectum | CRC | embryonic organ development | 65/2078 | 427/18723 | 5.15e-03 | 3.94e-02 | 65 |
GO:0090596 | Colorectum | CRC | sensory organ morphogenesis | 42/2078 | 256/18723 | 6.22e-03 | 4.54e-02 | 42 |
GO:00424912 | Colorectum | CRC | inner ear auditory receptor cell differentiation | 10/2078 | 38/18723 | 7.08e-03 | 4.92e-02 | 10 |
GO:000701512 | Liver | Cirrhotic | actin filament organization | 171/4634 | 442/18723 | 3.93e-11 | 2.30e-09 | 171 |
GO:005101712 | Liver | Cirrhotic | actin filament bundle assembly | 69/4634 | 157/18723 | 1.06e-07 | 3.05e-06 | 69 |
GO:006157212 | Liver | Cirrhotic | actin filament bundle organization | 70/4634 | 161/18723 | 1.44e-07 | 3.87e-06 | 70 |
GO:003253512 | Liver | Cirrhotic | regulation of cellular component size | 135/4634 | 383/18723 | 2.32e-06 | 4.26e-05 | 135 |
GO:00447721 | Liver | Cirrhotic | mitotic cell cycle phase transition | 139/4634 | 424/18723 | 1.02e-04 | 1.06e-03 | 139 |
GO:000701522 | Liver | HCC | actin filament organization | 252/7958 | 442/18723 | 3.83e-10 | 1.25e-08 | 252 |
GO:00447722 | Liver | HCC | mitotic cell cycle phase transition | 240/7958 | 424/18723 | 2.47e-09 | 6.84e-08 | 240 |
GO:003253522 | Liver | HCC | regulation of cellular component size | 217/7958 | 383/18723 | 1.28e-08 | 3.14e-07 | 217 |
GO:005101722 | Liver | HCC | actin filament bundle assembly | 96/7958 | 157/18723 | 1.81e-06 | 2.52e-05 | 96 |
GO:006157222 | Liver | HCC | actin filament bundle organization | 97/7958 | 161/18723 | 4.04e-06 | 5.22e-05 | 97 |
GO:00325307 | Liver | HCC | regulation of microvillus organization | 12/7958 | 13/18723 | 2.73e-04 | 1.98e-03 | 12 |
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.502N>A | p.Gly168Ser | p.G168S | Q9Y6N9 | protein_coding | deleterious(0) | probably_damaging(0.971) | TCGA-A1-A0SH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | tc | SD |
USH1C | SNV | Missense_Mutation | novel | c.1149N>C | p.Gln383His | p.Q383H | Q9Y6N9 | protein_coding | tolerated_low_confidence(0.13) | possibly_damaging(0.679) | TCGA-A8-A08H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
USH1C | SNV | Missense_Mutation | | c.370G>A | p.Asp124Asn | p.D124N | Q9Y6N9 | protein_coding | deleterious(0.02) | possibly_damaging(0.813) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
USH1C | SNV | Missense_Mutation | rs201644053 | c.2500N>A | p.Asp834Asn | p.D834N | Q9Y6N9 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.514) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
USH1C | SNV | Missense_Mutation | novel | c.1455N>T | p.Lys485Asn | p.K485N | Q9Y6N9 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.994) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
USH1C | SNV | Missense_Mutation | rs774988386 | c.1754N>T | p.Ser585Phe | p.S585F | Q9Y6N9 | protein_coding | deleterious_low_confidence(0.01) | benign(0.084) | TCGA-AR-A0TX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
USH1C | SNV | Missense_Mutation | | c.1954N>T | p.His652Tyr | p.H652Y | Q9Y6N9 | protein_coding | tolerated_low_confidence(0.38) | benign(0) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
USH1C | SNV | Missense_Mutation | rs397517883 | c.587G>A | p.Arg196Gln | p.R196Q | Q9Y6N9 | protein_coding | tolerated(0.11) | benign(0.32) | TCGA-E2-A56Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
USH1C | SNV | Missense_Mutation | | c.2281N>C | p.Glu761Gln | p.E761Q | Q9Y6N9 | protein_coding | deleterious_low_confidence(0.01) | probably_damaging(0.991) | TCGA-EW-A1J5-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
USH1C | SNV | Missense_Mutation | | c.2498N>G | p.Ile833Ser | p.I833S | Q9Y6N9 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.996) | TCGA-EW-A1P5-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |