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Gene: USP43 |
Gene summary for USP43 |
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Gene information | Species | Human | Gene symbol | USP43 | Gene ID | 124739 |
Gene name | ubiquitin specific peptidase 43 | |
Gene Alias | USP43 | |
Cytomap | 17p13.1 | |
Gene Type | protein-coding | GO ID | GO:0000731 | UniProtAcc | Q70EL4 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
124739 | USP43 | AEH-subject1 | Human | Endometrium | AEH | 5.30e-28 | 6.00e-01 | -0.3059 |
124739 | USP43 | AEH-subject2 | Human | Endometrium | AEH | 2.40e-02 | 2.37e-01 | -0.2525 |
124739 | USP43 | AEH-subject3 | Human | Endometrium | AEH | 8.26e-08 | 3.26e-01 | -0.2576 |
124739 | USP43 | AEH-subject4 | Human | Endometrium | AEH | 1.59e-07 | 4.29e-01 | -0.2657 |
124739 | USP43 | AEH-subject5 | Human | Endometrium | AEH | 2.08e-24 | 6.68e-01 | -0.2953 |
124739 | USP43 | EEC-subject1 | Human | Endometrium | EEC | 1.96e-27 | 7.67e-01 | -0.2682 |
124739 | USP43 | EEC-subject2 | Human | Endometrium | EEC | 3.02e-10 | 3.50e-01 | -0.2607 |
124739 | USP43 | EEC-subject3 | Human | Endometrium | EEC | 4.55e-04 | 2.51e-01 | -0.2525 |
124739 | USP43 | EEC-subject4 | Human | Endometrium | EEC | 3.64e-05 | 3.25e-01 | -0.2571 |
124739 | USP43 | EEC-subject5 | Human | Endometrium | EEC | 3.35e-10 | 3.38e-01 | -0.249 |
124739 | USP43 | LZE24T | Human | Esophagus | ESCC | 5.57e-08 | 1.68e-01 | 0.0596 |
124739 | USP43 | P1T-E | Human | Esophagus | ESCC | 6.58e-09 | 3.21e-01 | 0.0875 |
124739 | USP43 | P2T-E | Human | Esophagus | ESCC | 2.73e-09 | 6.22e-02 | 0.1177 |
124739 | USP43 | P4T-E | Human | Esophagus | ESCC | 1.94e-03 | 2.72e-01 | 0.1323 |
124739 | USP43 | P5T-E | Human | Esophagus | ESCC | 9.89e-10 | 2.70e-01 | 0.1327 |
124739 | USP43 | P8T-E | Human | Esophagus | ESCC | 3.10e-09 | 1.73e-01 | 0.0889 |
124739 | USP43 | P9T-E | Human | Esophagus | ESCC | 4.46e-05 | 4.28e-02 | 0.1131 |
124739 | USP43 | P10T-E | Human | Esophagus | ESCC | 3.64e-03 | 5.49e-03 | 0.116 |
124739 | USP43 | P21T-E | Human | Esophagus | ESCC | 1.01e-05 | 1.84e-01 | 0.1617 |
124739 | USP43 | P23T-E | Human | Esophagus | ESCC | 1.24e-11 | 2.39e-01 | 0.108 |
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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 |
Esophagus | ESCC | ![]() |
Skin | AK | ![]() |
Skin | SCCIS | ![]() |
Skin | cSCC | ![]() |
Thyroid | HT | ![]() |
∗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). |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00718977 | Endometrium | AEH | DNA biosynthetic process | 37/2100 | 180/18723 | 1.87e-04 | 2.39e-03 | 37 |
GO:007189713 | Endometrium | EEC | DNA biosynthetic process | 39/2168 | 180/18723 | 7.68e-05 | 1.11e-03 | 39 |
GO:007189716 | Esophagus | ESCC | DNA biosynthetic process | 127/8552 | 180/18723 | 1.04e-11 | 3.85e-10 | 127 |
GO:00063012 | Esophagus | ESCC | postreplication repair | 26/8552 | 31/18723 | 1.32e-05 | 1.21e-04 | 26 |
GO:007064612 | Esophagus | ESCC | protein modification by small protein removal | 95/8552 | 157/18723 | 1.25e-04 | 8.56e-04 | 95 |
GO:0019985 | Esophagus | ESCC | translesion synthesis | 17/8552 | 21/18723 | 1.03e-03 | 5.19e-03 | 17 |
GO:00165793 | Esophagus | ESCC | protein deubiquitination | 79/8552 | 139/18723 | 5.23e-03 | 1.97e-02 | 79 |
GO:00718979 | Oral cavity | OSCC | DNA biosynthetic process | 106/7305 | 180/18723 | 4.86e-08 | 8.95e-07 | 106 |
GO:00063011 | Oral cavity | OSCC | postreplication repair | 20/7305 | 31/18723 | 3.57e-03 | 1.49e-02 | 20 |
GO:00706462 | Oral cavity | OSCC | protein modification by small protein removal | 77/7305 | 157/18723 | 6.55e-03 | 2.43e-02 | 77 |
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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 |
USP43 | SNV | Missense_Mutation | rs764880794 | c.2789N>C | p.Asp930Ala | p.D930A | Q70EL4 | protein_coding | deleterious(0.01) | benign(0.214) | TCGA-AR-A1AJ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
USP43 | SNV | Missense_Mutation | c.1599N>C | p.Gln533His | p.Q533H | Q70EL4 | protein_coding | deleterious(0.03) | possibly_damaging(0.463) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
USP43 | SNV | Missense_Mutation | rs369060044 | c.1148N>A | p.Arg383His | p.R383H | Q70EL4 | protein_coding | tolerated(0.69) | possibly_damaging(0.75) | TCGA-D8-A1XY-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | tamoxiphen | SD |
USP43 | SNV | Missense_Mutation | c.3322C>T | p.His1108Tyr | p.H1108Y | Q70EL4 | protein_coding | deleterious(0.01) | possibly_damaging(0.777) | TCGA-OL-A6VQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
USP43 | insertion | Nonsense_Mutation | novel | c.3002_3003insTTAAACCATCGCCTTGGGGACTAGAGCTTCAATGTATGAAT | p.Val1002Ter | p.V1002* | Q70EL4 | protein_coding | TCGA-A8-A06O-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | letrozole | SD | ||
USP43 | insertion | In_Frame_Ins | novel | c.3234_3235insCTCTGTTTCATTGTTCATTCA | p.Arg1078_Ala1079insLeuCysPheIleValHisSer | p.R1078_A1079insLCFIVHS | Q70EL4 | protein_coding | TCGA-A8-A0A1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD | ||
USP43 | insertion | Frame_Shift_Ins | novel | c.3084_3085insCACCCGTG | p.Gly1029HisfsTer5 | p.G1029Hfs*5 | Q70EL4 | protein_coding | TCGA-BH-A0HX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adrimycin | SD | ||
USP43 | deletion | Frame_Shift_Del | novel | c.684delN | p.Ala229LeufsTer5 | p.A229Lfs*5 | Q70EL4 | protein_coding | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | ||
USP43 | SNV | Missense_Mutation | novel | c.553N>A | p.Asp185Asn | p.D185N | Q70EL4 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-DG-A2KK-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
USP43 | SNV | Missense_Mutation | c.3236N>A | p.Ala1079Asp | p.A1079D | Q70EL4 | protein_coding | tolerated(0.1) | benign(0.045) | TCGA-EA-A5FO-01 | Cervix | cervical & endocervical cancer | 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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