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Gene: UNC13D |
Gene summary for UNC13D |
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Gene information | Species | Human | Gene symbol | UNC13D | Gene ID | 201294 |
Gene name | unc-13 homolog D | |
Gene Alias | FHL3 | |
Cytomap | 17q25.1 | |
Gene Type | protein-coding | GO ID | GO:0000902 | UniProtAcc | Q70J99 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
201294 | UNC13D | LZE6T | Human | Esophagus | ESCC | 6.36e-03 | 2.71e-01 | 0.0845 |
201294 | UNC13D | P5T-E | Human | Esophagus | ESCC | 8.04e-04 | 3.91e-02 | 0.1327 |
201294 | UNC13D | P11T-E | Human | Esophagus | ESCC | 9.21e-05 | 3.39e-01 | 0.1426 |
201294 | UNC13D | P21T-E | Human | Esophagus | ESCC | 9.10e-11 | 2.46e-01 | 0.1617 |
201294 | UNC13D | P26T-E | Human | Esophagus | ESCC | 7.40e-04 | 1.11e-01 | 0.1276 |
201294 | UNC13D | P28T-E | Human | Esophagus | ESCC | 1.90e-02 | 5.73e-02 | 0.1149 |
201294 | UNC13D | P52T-E | Human | Esophagus | ESCC | 4.51e-02 | 7.60e-02 | 0.1555 |
201294 | UNC13D | P61T-E | Human | Esophagus | ESCC | 1.66e-19 | 4.52e-01 | 0.099 |
201294 | UNC13D | P76T-E | Human | Esophagus | ESCC | 1.34e-06 | 8.62e-02 | 0.1207 |
201294 | UNC13D | P79T-E | Human | Esophagus | ESCC | 1.43e-06 | 1.13e-01 | 0.1154 |
201294 | UNC13D | P82T-E | Human | Esophagus | ESCC | 3.98e-12 | 6.11e-01 | 0.1072 |
201294 | UNC13D | P89T-E | Human | Esophagus | ESCC | 1.25e-10 | 3.36e-01 | 0.1752 |
201294 | UNC13D | P128T-E | Human | Esophagus | ESCC | 3.38e-03 | 1.48e-01 | 0.1241 |
201294 | UNC13D | P130T-E | Human | Esophagus | ESCC | 2.53e-64 | 1.03e+00 | 0.1676 |
201294 | UNC13D | PTC04 | Human | Thyroid | PTC | 7.31e-03 | 5.17e-02 | 0.1927 |
201294 | UNC13D | PTC07 | Human | Thyroid | PTC | 5.59e-03 | 5.86e-02 | 0.2044 |
201294 | UNC13D | ATC09 | Human | Thyroid | ATC | 1.88e-17 | 5.42e-01 | 0.2871 |
201294 | UNC13D | ATC1 | Human | Thyroid | ATC | 8.17e-17 | 5.85e-01 | 0.2878 |
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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). |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:005165617 | Esophagus | ESCC | establishment of organelle localization | 273/8552 | 390/18723 | 9.13e-23 | 1.81e-20 | 273 |
GO:000961518 | Esophagus | ESCC | response to virus | 238/8552 | 367/18723 | 6.65e-14 | 3.32e-12 | 238 |
GO:00516075 | Esophagus | ESCC | defense response to virus | 171/8552 | 265/18723 | 3.91e-10 | 1.05e-08 | 171 |
GO:01405465 | Esophagus | ESCC | defense response to symbiont | 171/8552 | 265/18723 | 3.91e-10 | 1.05e-08 | 171 |
GO:003158919 | Esophagus | ESCC | cell-substrate adhesion | 221/8552 | 363/18723 | 3.06e-09 | 6.62e-08 | 221 |
GO:001081020 | Esophagus | ESCC | regulation of cell-substrate adhesion | 144/8552 | 221/18723 | 3.55e-09 | 7.45e-08 | 144 |
GO:004578527 | Esophagus | ESCC | positive regulation of cell adhesion | 255/8552 | 437/18723 | 5.07e-08 | 9.11e-07 | 255 |
GO:001081126 | Esophagus | ESCC | positive regulation of cell-substrate adhesion | 84/8552 | 123/18723 | 3.18e-07 | 4.50e-06 | 84 |
GO:002260420 | Esophagus | ESCC | regulation of cell morphogenesis | 180/8552 | 309/18723 | 5.19e-06 | 5.45e-05 | 180 |
GO:001072010 | Esophagus | ESCC | positive regulation of cell development | 172/8552 | 298/18723 | 1.74e-05 | 1.55e-04 | 172 |
GO:001076920 | Esophagus | ESCC | regulation of cell morphogenesis involved in differentiation | 61/8552 | 96/18723 | 3.12e-04 | 1.85e-03 | 61 |
GO:001077018 | Esophagus | ESCC | positive regulation of cell morphogenesis involved in differentiation | 51/8552 | 79/18723 | 5.48e-04 | 3.00e-03 | 51 |
GO:190002420 | Esophagus | ESCC | regulation of substrate adhesion-dependent cell spreading | 38/8552 | 57/18723 | 1.11e-03 | 5.56e-03 | 38 |
GO:00025442 | Esophagus | ESCC | chronic inflammatory response | 15/8552 | 18/18723 | 1.20e-03 | 5.88e-03 | 15 |
GO:003444620 | Esophagus | ESCC | substrate adhesion-dependent cell spreading | 65/8552 | 108/18723 | 1.67e-03 | 7.72e-03 | 65 |
GO:0002467 | Esophagus | ESCC | germinal center formation | 12/8552 | 14/18723 | 2.51e-03 | 1.08e-02 | 12 |
GO:190002620 | Esophagus | ESCC | positive regulation of substrate adhesion-dependent cell spreading | 28/8552 | 41/18723 | 2.88e-03 | 1.21e-02 | 28 |
GO:0022604112 | Thyroid | PTC | regulation of cell morphogenesis | 165/5968 | 309/18723 | 2.60e-15 | 1.82e-13 | 165 |
GO:005165620 | Thyroid | PTC | establishment of organelle localization | 193/5968 | 390/18723 | 2.21e-13 | 1.15e-11 | 193 |
GO:0010810112 | Thyroid | PTC | regulation of cell-substrate adhesion | 113/5968 | 221/18723 | 1.87e-09 | 5.28e-08 | 113 |
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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 |
UNC13D | SNV | Missense_Mutation | rs766863447 | c.95N>T | p.Pro32Leu | p.P32L | Q70J99 | protein_coding | tolerated(0.08) | benign(0.051) | TCGA-FV-A3R2-01 | Liver | liver hepatocellular carcinoma | Male | >=65 | I/II | Chemotherapy | cisplatin | SD |
UNC13D | SNV | Missense_Mutation | c.832C>T | p.Leu278Phe | p.L278F | Q70J99 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-49-4494-01 | Lung | lung adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | PD | |
UNC13D | SNV | Missense_Mutation | rs549768303 | c.1708N>T | p.Arg570Cys | p.R570C | Q70J99 | protein_coding | tolerated(0.06) | benign(0.326) | TCGA-55-8204-01 | Lung | lung adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
UNC13D | SNV | Missense_Mutation | novel | c.3032N>T | p.Ala1011Val | p.A1011V | Q70J99 | protein_coding | deleterious(0.01) | benign(0.175) | TCGA-55-8506-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
UNC13D | SNV | Missense_Mutation | rs149099554 | c.1216G>A | p.Gly406Ser | p.G406S | Q70J99 | protein_coding | tolerated(0.1) | probably_damaging(0.988) | TCGA-73-4662-01 | Lung | lung adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
UNC13D | SNV | Missense_Mutation | c.1897N>G | p.Leu633Val | p.L633V | Q70J99 | protein_coding | tolerated(0.38) | benign(0.314) | TCGA-75-6214-01 | Lung | lung adenocarcinoma | Female | Unknown | III/IV | Unknown | Unknown | PD | |
UNC13D | SNV | Missense_Mutation | rs375153464 | c.3062C>T | p.Pro1021Leu | p.P1021L | Q70J99 | protein_coding | deleterious(0) | benign(0.173) | TCGA-86-8672-01 | Lung | lung adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
UNC13D | SNV | Missense_Mutation | rs373721287 | c.31N>T | p.Arg11Cys | p.R11C | Q70J99 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.99) | TCGA-MP-A4TE-01 | Lung | lung adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | PD |
UNC13D | SNV | Missense_Mutation | rs763184308 | c.1058N>G | p.Gln353Arg | p.Q353R | Q70J99 | protein_coding | tolerated(0.36) | benign(0.007) | TCGA-63-A5MJ-01 | Lung | lung squamous cell carcinoma | Male | <65 | I/II | Chemotherapy | vinorelbine | SD |
UNC13D | deletion | Frame_Shift_Del | novel | c.325_326delNN | p.Pro109AsnfsTer32 | p.P109Nfs*32 | Q70J99 | protein_coding | TCGA-55-1592-01 | Lung | lung adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
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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 |
201294 | UNC13D | NA | emapalumab | EMAPALUMAB | ||
201294 | UNC13D | NA | Emapalumab-lzsg | EMAPALUMAB |
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