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Gene: LRRK1 |
Gene summary for LRRK1 |
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Gene information | Species | Human | Gene symbol | LRRK1 | Gene ID | 79705 |
Gene name | leucine rich repeat kinase 1 | |
Gene Alias | RIPK6 | |
Cytomap | 15q26.3 | |
Gene Type | protein-coding | GO ID | GO:0001501 | UniProtAcc | Q38SD2 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
79705 | LRRK1 | P1T-E | Human | Esophagus | ESCC | 8.58e-05 | 3.13e-01 | 0.0875 |
79705 | LRRK1 | P2T-E | Human | Esophagus | ESCC | 4.30e-10 | 1.78e-01 | 0.1177 |
79705 | LRRK1 | P4T-E | Human | Esophagus | ESCC | 2.58e-09 | 1.12e-01 | 0.1323 |
79705 | LRRK1 | P8T-E | Human | Esophagus | ESCC | 3.89e-12 | 2.42e-01 | 0.0889 |
79705 | LRRK1 | P9T-E | Human | Esophagus | ESCC | 1.10e-03 | 1.45e-01 | 0.1131 |
79705 | LRRK1 | P10T-E | Human | Esophagus | ESCC | 6.74e-06 | 9.30e-02 | 0.116 |
79705 | LRRK1 | P11T-E | Human | Esophagus | ESCC | 2.24e-05 | 1.60e-01 | 0.1426 |
79705 | LRRK1 | P12T-E | Human | Esophagus | ESCC | 4.31e-06 | 1.11e-01 | 0.1122 |
79705 | LRRK1 | P15T-E | Human | Esophagus | ESCC | 1.97e-04 | 1.06e-01 | 0.1149 |
79705 | LRRK1 | P16T-E | Human | Esophagus | ESCC | 1.28e-06 | 1.62e-01 | 0.1153 |
79705 | LRRK1 | P20T-E | Human | Esophagus | ESCC | 9.90e-05 | 9.72e-02 | 0.1124 |
79705 | LRRK1 | P21T-E | Human | Esophagus | ESCC | 2.05e-07 | 1.22e-01 | 0.1617 |
79705 | LRRK1 | P22T-E | Human | Esophagus | ESCC | 9.02e-11 | 1.77e-01 | 0.1236 |
79705 | LRRK1 | P23T-E | Human | Esophagus | ESCC | 1.07e-12 | 3.13e-01 | 0.108 |
79705 | LRRK1 | P24T-E | Human | Esophagus | ESCC | 7.90e-03 | 9.89e-02 | 0.1287 |
79705 | LRRK1 | P26T-E | Human | Esophagus | ESCC | 1.78e-03 | 9.65e-02 | 0.1276 |
79705 | LRRK1 | P27T-E | Human | Esophagus | ESCC | 5.05e-04 | 5.94e-02 | 0.1055 |
79705 | LRRK1 | P28T-E | Human | Esophagus | ESCC | 3.75e-03 | 8.70e-02 | 0.1149 |
79705 | LRRK1 | P30T-E | Human | Esophagus | ESCC | 1.10e-05 | 1.85e-01 | 0.137 |
79705 | LRRK1 | P32T-E | Human | Esophagus | ESCC | 7.90e-03 | 7.41e-02 | 0.1666 |
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Tissue | Expression Dynamics | Abbreviation |
Esophagus | ![]() | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias | ||
LGIN: Low-grade intraepithelial neoplasias |
∗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:0010563111 | Esophagus | ESCC | negative regulation of phosphorus metabolic process | 274/8552 | 442/18723 | 2.32e-12 | 9.41e-11 | 274 |
GO:0045936111 | Esophagus | ESCC | negative regulation of phosphate metabolic process | 273/8552 | 441/18723 | 3.18e-12 | 1.25e-10 | 273 |
GO:0042326111 | Esophagus | ESCC | negative regulation of phosphorylation | 237/8552 | 385/18723 | 1.86e-10 | 5.33e-09 | 237 |
GO:001605517 | Esophagus | ESCC | Wnt signaling pathway | 268/8552 | 444/18723 | 2.32e-10 | 6.58e-09 | 268 |
GO:019873817 | Esophagus | ESCC | cell-cell signaling by wnt | 269/8552 | 446/18723 | 2.41e-10 | 6.79e-09 | 269 |
GO:0001933111 | Esophagus | ESCC | negative regulation of protein phosphorylation | 213/8552 | 342/18723 | 3.54e-10 | 9.76e-09 | 213 |
GO:0030099111 | Esophagus | ESCC | myeloid cell differentiation | 232/8552 | 381/18723 | 1.22e-09 | 2.90e-08 | 232 |
GO:001631110 | Esophagus | ESCC | dephosphorylation | 251/8552 | 417/18723 | 1.26e-09 | 2.99e-08 | 251 |
GO:000647018 | Esophagus | ESCC | protein dephosphorylation | 177/8552 | 281/18723 | 3.13e-09 | 6.72e-08 | 177 |
GO:003011117 | Esophagus | ESCC | regulation of Wnt signaling pathway | 194/8552 | 328/18723 | 5.39e-07 | 7.14e-06 | 194 |
GO:006007016 | Esophagus | ESCC | canonical Wnt signaling pathway | 180/8552 | 303/18723 | 9.15e-07 | 1.17e-05 | 180 |
GO:006082817 | Esophagus | ESCC | regulation of canonical Wnt signaling pathway | 153/8552 | 253/18723 | 1.38e-06 | 1.67e-05 | 153 |
GO:000257317 | Esophagus | ESCC | myeloid leukocyte differentiation | 128/8552 | 208/18723 | 2.75e-06 | 3.15e-05 | 128 |
GO:009026316 | Esophagus | ESCC | positive regulation of canonical Wnt signaling pathway | 69/8552 | 106/18723 | 4.22e-05 | 3.39e-04 | 69 |
GO:003017716 | Esophagus | ESCC | positive regulation of Wnt signaling pathway | 87/8552 | 140/18723 | 6.18e-05 | 4.73e-04 | 87 |
GO:00507322 | Esophagus | ESCC | negative regulation of peptidyl-tyrosine phosphorylation | 42/8552 | 59/18723 | 6.35e-05 | 4.84e-04 | 42 |
GO:00182124 | Esophagus | ESCC | peptidyl-tyrosine modification | 202/8552 | 378/18723 | 1.34e-03 | 6.39e-03 | 202 |
GO:00181084 | Esophagus | ESCC | peptidyl-tyrosine phosphorylation | 200/8552 | 375/18723 | 1.60e-03 | 7.45e-03 | 200 |
GO:00603485 | Esophagus | ESCC | bone development | 115/8552 | 205/18723 | 1.67e-03 | 7.72e-03 | 115 |
GO:00507303 | Esophagus | ESCC | regulation of peptidyl-tyrosine phosphorylation | 144/8552 | 264/18723 | 2.22e-03 | 9.78e-03 | 144 |
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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 |
LRRK1 | SNV | Missense_Mutation | rs767617347 | c.4490N>T | p.Ala1497Val | p.A1497V | Q38SD2 | protein_coding | tolerated(0.15) | benign(0.003) | TCGA-AG-A02N-01 | Colorectum | rectum adenocarcinoma | Male | >=65 | I/II | Chemotherapy | folinic | CR |
LRRK1 | SNV | Missense_Mutation | c.3363N>T | p.Gln1121His | p.Q1121H | Q38SD2 | protein_coding | deleterious(0.01) | probably_damaging(0.965) | TCGA-CL-4957-01 | Colorectum | rectum adenocarcinoma | Female | >=65 | III/IV | Chemotherapy | oxaliplatin | SD | |
LRRK1 | SNV | Missense_Mutation | c.54N>T | p.Glu18Asp | p.E18D | Q38SD2 | protein_coding | tolerated_low_confidence(0.12) | benign(0.063) | TCGA-EI-6882-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
LRRK1 | SNV | Missense_Mutation | novel | c.4166C>T | p.Ser1389Leu | p.S1389L | Q38SD2 | protein_coding | deleterious(0) | probably_damaging(0.981) | TCGA-EI-6917-01 | Colorectum | rectum adenocarcinoma | Male | <65 | III/IV | Chemotherapy | 5fluorouracil+oxaciplatina+l-folinian | SD |
LRRK1 | insertion | Frame_Shift_Ins | novel | c.27dupC | p.Ser10GlnfsTer23 | p.S10Qfs*23 | Q38SD2 | protein_coding | TCGA-AA-3986-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | ||
LRRK1 | SNV | Missense_Mutation | novel | c.2609N>C | p.Leu870Pro | p.L870P | Q38SD2 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
LRRK1 | SNV | Missense_Mutation | rs369265377 | c.2950N>A | p.Val984Ile | p.V984I | Q38SD2 | protein_coding | tolerated(0.11) | benign(0.278) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
LRRK1 | SNV | Missense_Mutation | rs774839951 | c.4688N>T | p.Thr1563Met | p.T1563M | Q38SD2 | protein_coding | deleterious(0) | possibly_damaging(0.828) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
LRRK1 | SNV | Missense_Mutation | novel | c.5896N>A | p.Ala1966Thr | p.A1966T | Q38SD2 | protein_coding | deleterious_low_confidence(0.01) | benign(0.03) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
LRRK1 | SNV | Missense_Mutation | c.5771G>A | p.Arg1924His | p.R1924H | Q38SD2 | protein_coding | tolerated(0.07) | benign(0.003) | TCGA-A5-A0GI-01 | Endometrium | uterine corpus endometrioid carcinoma | 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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