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Gene: UACA |
Gene summary for UACA |
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Gene information | Species | Human | Gene symbol | UACA | Gene ID | 55075 |
Gene name | uveal autoantigen with coiled-coil domains and ankyrin repeats | |
Gene Alias | NUCLING | |
Cytomap | 15q23 | |
Gene Type | protein-coding | GO ID | GO:0006508 | UniProtAcc | Q9BZF9 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
55075 | UACA | LZE2T | Human | Esophagus | ESCC | 1.87e-03 | 2.90e-01 | 0.082 |
55075 | UACA | LZE4T | Human | Esophagus | ESCC | 1.87e-06 | 1.30e-01 | 0.0811 |
55075 | UACA | LZE7T | Human | Esophagus | ESCC | 1.77e-02 | 1.77e-01 | 0.0667 |
55075 | UACA | LZE22T | Human | Esophagus | ESCC | 2.28e-04 | 3.68e-01 | 0.068 |
55075 | UACA | LZE24T | Human | Esophagus | ESCC | 5.57e-18 | 2.76e-01 | 0.0596 |
55075 | UACA | LZE21T | Human | Esophagus | ESCC | 5.27e-03 | 2.04e-01 | 0.0655 |
55075 | UACA | P1T-E | Human | Esophagus | ESCC | 4.22e-04 | 5.97e-01 | 0.0875 |
55075 | UACA | P2T-E | Human | Esophagus | ESCC | 1.04e-35 | 6.67e-01 | 0.1177 |
55075 | UACA | P4T-E | Human | Esophagus | ESCC | 2.02e-17 | 4.87e-01 | 0.1323 |
55075 | UACA | P8T-E | Human | Esophagus | ESCC | 4.44e-29 | 5.90e-01 | 0.0889 |
55075 | UACA | P9T-E | Human | Esophagus | ESCC | 2.82e-15 | 4.95e-01 | 0.1131 |
55075 | UACA | P10T-E | Human | Esophagus | ESCC | 2.46e-30 | 6.30e-01 | 0.116 |
55075 | UACA | P11T-E | Human | Esophagus | ESCC | 1.63e-11 | 4.89e-01 | 0.1426 |
55075 | UACA | P12T-E | Human | Esophagus | ESCC | 7.03e-29 | 6.40e-01 | 0.1122 |
55075 | UACA | P15T-E | Human | Esophagus | ESCC | 1.86e-15 | 3.81e-01 | 0.1149 |
55075 | UACA | P16T-E | Human | Esophagus | ESCC | 9.48e-27 | 4.73e-01 | 0.1153 |
55075 | UACA | P17T-E | Human | Esophagus | ESCC | 8.32e-04 | 2.27e-01 | 0.1278 |
55075 | UACA | P19T-E | Human | Esophagus | ESCC | 2.91e-02 | 3.91e-01 | 0.1662 |
55075 | UACA | P20T-E | Human | Esophagus | ESCC | 2.56e-04 | 2.41e-01 | 0.1124 |
55075 | UACA | P21T-E | Human | Esophagus | ESCC | 4.46e-05 | 2.38e-01 | 0.1617 |
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∗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. |
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Malignant transformation related pathway analysis |
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Tissue | Disease Stage | Enriched GO biological Processes |
Colorectum | AD | ![]() |
Colorectum | SER | ![]() |
Colorectum | MSS | ![]() |
Colorectum | MSI-H | ![]() |
Colorectum | FAP | ![]() |
∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
Page: 1 2 3 4 5 6 7 8 9 |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0045862111 | Esophagus | ESCC | positive regulation of proteolysis | 256/8552 | 372/18723 | 7.88e-20 | 9.43e-18 | 256 |
GO:2000116111 | Esophagus | ESCC | regulation of cysteine-type endopeptidase activity | 158/8552 | 235/18723 | 1.67e-11 | 5.90e-10 | 158 |
GO:0043281111 | Esophagus | ESCC | regulation of cysteine-type endopeptidase activity involved in apoptotic process | 143/8552 | 209/18723 | 2.12e-11 | 7.31e-10 | 143 |
GO:0010952111 | Esophagus | ESCC | positive regulation of peptidase activity | 133/8552 | 197/18723 | 4.31e-10 | 1.14e-08 | 133 |
GO:0052547111 | Esophagus | ESCC | regulation of peptidase activity | 275/8552 | 461/18723 | 7.54e-10 | 1.88e-08 | 275 |
GO:0052548111 | Esophagus | ESCC | regulation of endopeptidase activity | 253/8552 | 432/18723 | 3.68e-08 | 6.78e-07 | 253 |
GO:0010950111 | Esophagus | ESCC | positive regulation of endopeptidase activity | 116/8552 | 179/18723 | 1.77e-07 | 2.79e-06 | 116 |
GO:0043280110 | Esophagus | ESCC | positive regulation of cysteine-type endopeptidase activity involved in apoptotic process | 84/8552 | 129/18723 | 6.38e-06 | 6.55e-05 | 84 |
GO:2001056110 | Esophagus | ESCC | positive regulation of cysteine-type endopeptidase activity | 94/8552 | 148/18723 | 8.87e-06 | 8.59e-05 | 94 |
GO:00380615 | Esophagus | ESCC | NIK/NF-kappaB signaling | 81/8552 | 143/18723 | 5.33e-03 | 2.00e-02 | 81 |
GO:00458627 | Liver | NAFLD | positive regulation of proteolysis | 65/1882 | 372/18723 | 6.58e-06 | 2.29e-04 | 65 |
GO:00525477 | Liver | NAFLD | regulation of peptidase activity | 72/1882 | 461/18723 | 1.03e-04 | 2.03e-03 | 72 |
GO:00525487 | Liver | NAFLD | regulation of endopeptidase activity | 67/1882 | 432/18723 | 2.17e-04 | 3.70e-03 | 67 |
GO:004586222 | Liver | HCC | positive regulation of proteolysis | 232/7958 | 372/18723 | 5.66e-15 | 3.98e-13 | 232 |
GO:004328112 | Liver | HCC | regulation of cysteine-type endopeptidase activity involved in apoptotic process | 125/7958 | 209/18723 | 3.12e-07 | 5.42e-06 | 125 |
GO:200011612 | Liver | HCC | regulation of cysteine-type endopeptidase activity | 137/7958 | 235/18723 | 6.91e-07 | 1.08e-05 | 137 |
GO:005254722 | Liver | HCC | regulation of peptidase activity | 247/7958 | 461/18723 | 8.28e-07 | 1.27e-05 | 247 |
GO:005254822 | Liver | HCC | regulation of endopeptidase activity | 230/7958 | 432/18723 | 3.58e-06 | 4.68e-05 | 230 |
GO:001095212 | Liver | HCC | positive regulation of peptidase activity | 110/7958 | 197/18723 | 1.04e-04 | 8.98e-04 | 110 |
GO:001095012 | Liver | HCC | positive regulation of endopeptidase activity | 96/7958 | 179/18723 | 1.68e-03 | 8.79e-03 | 96 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
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Somatic mutation of malignant transformation related genes |
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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 |
UACA | SNV | Missense_Mutation | rs766014158 | c.692N>T | p.Ala231Val | p.A231V | Q9BZF9 | protein_coding | tolerated(0.15) | possibly_damaging(0.743) | TCGA-AA-3984-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
UACA | SNV | Missense_Mutation | rs368611824 | c.625N>A | p.Glu209Lys | p.E209K | Q9BZF9 | protein_coding | deleterious(0.03) | probably_damaging(0.999) | TCGA-AA-A00N-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
UACA | SNV | Missense_Mutation | novel | c.3241N>A | p.Glu1081Lys | p.E1081K | Q9BZF9 | protein_coding | deleterious(0.05) | benign(0.007) | TCGA-AZ-4315-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
UACA | SNV | Missense_Mutation | rs373897961 | c.2611N>G | p.Thr871Ala | p.T871A | Q9BZF9 | protein_coding | tolerated(0.96) | benign(0) | TCGA-AZ-4315-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
UACA | SNV | Missense_Mutation | novel | c.722N>T | p.Arg241Ile | p.R241I | Q9BZF9 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-AZ-4315-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
UACA | SNV | Missense_Mutation | novel | c.1109N>C | p.Lys370Thr | p.K370T | Q9BZF9 | protein_coding | deleterious(0) | possibly_damaging(0.588) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
UACA | SNV | Missense_Mutation | novel | c.145N>C | p.Lys49Gln | p.K49Q | Q9BZF9 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
UACA | SNV | Missense_Mutation | c.665N>C | p.Asn222Thr | p.N222T | Q9BZF9 | protein_coding | tolerated(0.07) | probably_damaging(0.964) | TCGA-CA-6718-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | PD | |
UACA | SNV | Missense_Mutation | rs753673926 | c.1349N>A | p.Arg450Gln | p.R450Q | Q9BZF9 | protein_coding | tolerated(0.07) | probably_damaging(0.997) | TCGA-F4-6856-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Ancillary | leucovorin | CR |
UACA | SNV | Missense_Mutation | c.969N>C | p.Lys323Asn | p.K323N | Q9BZF9 | protein_coding | deleterious(0) | possibly_damaging(0.859) | TCGA-G4-6588-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
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