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Gene: RAPGEF6 |
Gene summary for RAPGEF6 |
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Gene information | Species | Human | Gene symbol | RAPGEF6 | Gene ID | 51735 |
Gene name | Rap guanine nucleotide exchange factor 6 | |
Gene Alias | KIA001LB | |
Cytomap | 5q31.1 | |
Gene Type | protein-coding | GO ID | GO:0007154 | UniProtAcc | B2RTU6 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
51735 | RAPGEF6 | AEH-subject1 | Human | Endometrium | AEH | 7.90e-19 | 4.11e-01 | -0.3059 |
51735 | RAPGEF6 | AEH-subject2 | Human | Endometrium | AEH | 8.80e-04 | 2.51e-01 | -0.2525 |
51735 | RAPGEF6 | AEH-subject3 | Human | Endometrium | AEH | 8.88e-06 | 2.88e-01 | -0.2576 |
51735 | RAPGEF6 | AEH-subject4 | Human | Endometrium | AEH | 1.24e-09 | 3.81e-01 | -0.2657 |
51735 | RAPGEF6 | AEH-subject5 | Human | Endometrium | AEH | 1.06e-19 | 5.40e-01 | -0.2953 |
51735 | RAPGEF6 | EEC-subject1 | Human | Endometrium | EEC | 1.44e-24 | 5.73e-01 | -0.2682 |
51735 | RAPGEF6 | EEC-subject2 | Human | Endometrium | EEC | 2.71e-14 | 3.88e-01 | -0.2607 |
51735 | RAPGEF6 | EEC-subject3 | Human | Endometrium | EEC | 1.71e-04 | 2.45e-01 | -0.2525 |
51735 | RAPGEF6 | EEC-subject4 | Human | Endometrium | EEC | 6.85e-10 | 3.30e-01 | -0.2571 |
51735 | RAPGEF6 | EEC-subject5 | Human | Endometrium | EEC | 3.23e-17 | 4.64e-01 | -0.249 |
51735 | RAPGEF6 | LZE2T | Human | Esophagus | ESCC | 2.26e-02 | 3.98e-01 | 0.082 |
51735 | RAPGEF6 | LZE4T | Human | Esophagus | ESCC | 1.36e-05 | 3.09e-01 | 0.0811 |
51735 | RAPGEF6 | LZE7T | Human | Esophagus | ESCC | 8.89e-03 | 3.00e-01 | 0.0667 |
51735 | RAPGEF6 | LZE8T | Human | Esophagus | ESCC | 6.75e-04 | 2.16e-01 | 0.067 |
51735 | RAPGEF6 | LZE22D1 | Human | Esophagus | HGIN | 1.09e-02 | 1.64e-01 | 0.0595 |
51735 | RAPGEF6 | LZE22T | Human | Esophagus | ESCC | 1.28e-02 | 2.05e-01 | 0.068 |
51735 | RAPGEF6 | LZE24T | Human | Esophagus | ESCC | 9.31e-15 | 3.56e-01 | 0.0596 |
51735 | RAPGEF6 | LZE6T | Human | Esophagus | ESCC | 2.23e-03 | 1.87e-01 | 0.0845 |
51735 | RAPGEF6 | P2T-E | Human | Esophagus | ESCC | 1.04e-15 | 2.87e-01 | 0.1177 |
51735 | RAPGEF6 | P4T-E | Human | Esophagus | ESCC | 3.34e-09 | 1.12e-01 | 0.1323 |
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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:007265914 | Endometrium | AEH | protein localization to plasma membrane | 63/2100 | 284/18723 | 7.58e-08 | 3.92e-06 | 63 |
GO:19907789 | Endometrium | AEH | protein localization to cell periphery | 68/2100 | 333/18723 | 6.38e-07 | 2.38e-05 | 68 |
GO:00430878 | Endometrium | AEH | regulation of GTPase activity | 66/2100 | 348/18723 | 1.26e-05 | 2.77e-04 | 66 |
GO:00072657 | Endometrium | AEH | Ras protein signal transduction | 63/2100 | 337/18723 | 3.09e-05 | 5.66e-04 | 63 |
GO:00435477 | Endometrium | AEH | positive regulation of GTPase activity | 48/2100 | 255/18723 | 2.18e-04 | 2.67e-03 | 48 |
GO:007265915 | Endometrium | EEC | protein localization to plasma membrane | 64/2168 | 284/18723 | 1.05e-07 | 5.05e-06 | 64 |
GO:199077814 | Endometrium | EEC | protein localization to cell periphery | 69/2168 | 333/18723 | 9.71e-07 | 3.31e-05 | 69 |
GO:004308712 | Endometrium | EEC | regulation of GTPase activity | 67/2168 | 348/18723 | 1.84e-05 | 3.43e-04 | 67 |
GO:000726513 | Endometrium | EEC | Ras protein signal transduction | 64/2168 | 337/18723 | 4.31e-05 | 7.10e-04 | 64 |
GO:004354712 | Endometrium | EEC | positive regulation of GTPase activity | 50/2168 | 255/18723 | 1.26e-04 | 1.66e-03 | 50 |
GO:007265920 | Esophagus | HGIN | protein localization to plasma membrane | 66/2587 | 284/18723 | 1.11e-05 | 3.18e-04 | 66 |
GO:199077818 | Esophagus | HGIN | protein localization to cell periphery | 71/2587 | 333/18723 | 1.05e-04 | 2.24e-03 | 71 |
GO:0072659110 | Esophagus | ESCC | protein localization to plasma membrane | 193/8552 | 284/18723 | 1.95e-14 | 1.03e-12 | 193 |
GO:199077819 | Esophagus | ESCC | protein localization to cell periphery | 217/8552 | 333/18723 | 4.08e-13 | 1.88e-11 | 217 |
GO:000726510 | Esophagus | ESCC | Ras protein signal transduction | 201/8552 | 337/18723 | 1.44e-07 | 2.30e-06 | 201 |
GO:00300339 | Esophagus | ESCC | microvillus assembly | 13/8552 | 16/18723 | 4.05e-03 | 1.62e-02 | 13 |
GO:004308715 | Esophagus | ESCC | regulation of GTPase activity | 183/8552 | 348/18723 | 5.34e-03 | 2.00e-02 | 183 |
GO:00726598 | Lung | IAC | protein localization to plasma membrane | 60/2061 | 284/18723 | 4.74e-07 | 3.10e-05 | 60 |
GO:19907787 | Lung | IAC | protein localization to cell periphery | 66/2061 | 333/18723 | 1.44e-06 | 7.22e-05 | 66 |
GO:00430876 | Lung | IAC | regulation of GTPase activity | 67/2061 | 348/18723 | 3.43e-06 | 1.44e-04 | 67 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0453026 | Endometrium | AEH | Tight junction | 54/1197 | 169/8465 | 1.99e-09 | 3.80e-08 | 2.78e-08 | 54 |
hsa0401514 | Endometrium | AEH | Rap1 signaling pathway | 49/1197 | 210/8465 | 2.03e-04 | 1.78e-03 | 1.30e-03 | 49 |
hsa04530112 | Endometrium | AEH | Tight junction | 54/1197 | 169/8465 | 1.99e-09 | 3.80e-08 | 2.78e-08 | 54 |
hsa0401515 | Endometrium | AEH | Rap1 signaling pathway | 49/1197 | 210/8465 | 2.03e-04 | 1.78e-03 | 1.30e-03 | 49 |
hsa0453027 | Endometrium | EEC | Tight junction | 54/1237 | 169/8465 | 6.56e-09 | 1.27e-07 | 9.46e-08 | 54 |
hsa0401522 | Endometrium | EEC | Rap1 signaling pathway | 49/1237 | 210/8465 | 4.45e-04 | 3.47e-03 | 2.59e-03 | 49 |
hsa0453036 | Endometrium | EEC | Tight junction | 54/1237 | 169/8465 | 6.56e-09 | 1.27e-07 | 9.46e-08 | 54 |
hsa0401532 | Endometrium | EEC | Rap1 signaling pathway | 49/1237 | 210/8465 | 4.45e-04 | 3.47e-03 | 2.59e-03 | 49 |
hsa0453039 | Esophagus | HGIN | Tight junction | 40/1383 | 169/8465 | 8.18e-03 | 4.71e-02 | 3.74e-02 | 40 |
hsa04530115 | Esophagus | HGIN | Tight junction | 40/1383 | 169/8465 | 8.18e-03 | 4.71e-02 | 3.74e-02 | 40 |
hsa04530211 | Esophagus | ESCC | Tight junction | 105/4205 | 169/8465 | 6.73e-04 | 2.23e-03 | 1.14e-03 | 105 |
hsa04530310 | Esophagus | ESCC | Tight junction | 105/4205 | 169/8465 | 6.73e-04 | 2.23e-03 | 1.14e-03 | 105 |
hsa0453016 | Lung | IAC | Tight junction | 43/1053 | 169/8465 | 2.44e-06 | 8.81e-05 | 5.85e-05 | 43 |
hsa0401510 | Lung | IAC | Rap1 signaling pathway | 41/1053 | 210/8465 | 2.01e-03 | 1.07e-02 | 7.10e-03 | 41 |
hsa0453017 | Lung | IAC | Tight junction | 43/1053 | 169/8465 | 2.44e-06 | 8.81e-05 | 5.85e-05 | 43 |
hsa0401511 | Lung | IAC | Rap1 signaling pathway | 41/1053 | 210/8465 | 2.01e-03 | 1.07e-02 | 7.10e-03 | 41 |
hsa0453023 | Lung | AIS | Tight junction | 46/961 | 169/8465 | 7.79e-09 | 4.33e-07 | 2.77e-07 | 46 |
hsa0401521 | Lung | AIS | Rap1 signaling pathway | 41/961 | 210/8465 | 3.23e-04 | 3.38e-03 | 2.16e-03 | 41 |
hsa0453033 | Lung | AIS | Tight junction | 46/961 | 169/8465 | 7.79e-09 | 4.33e-07 | 2.77e-07 | 46 |
hsa0401531 | Lung | AIS | Rap1 signaling pathway | 41/961 | 210/8465 | 3.23e-04 | 3.38e-03 | 2.16e-03 | 41 |
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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 |
RAPGEF6 | SNV | Missense_Mutation | c.94C>A | p.Leu32Ile | p.L32I | Q8TEU7 | protein_coding | deleterious(0.01) | benign(0.173) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD | |
RAPGEF6 | SNV | Missense_Mutation | c.4337N>A | p.Ser1446Tyr | p.S1446Y | Q8TEU7 | protein_coding | tolerated_low_confidence(0.07) | benign(0.009) | TCGA-B5-A0JY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD | |
RAPGEF6 | SNV | Missense_Mutation | c.3204N>T | p.Lys1068Asn | p.K1068N | Q8TEU7 | protein_coding | tolerated(0.19) | benign(0.103) | TCGA-B5-A0JY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD | |
RAPGEF6 | SNV | Missense_Mutation | c.94N>A | p.Leu32Ile | p.L32I | Q8TEU7 | protein_coding | deleterious(0.01) | benign(0.173) | TCGA-B5-A0JY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD | |
RAPGEF6 | SNV | Missense_Mutation | novel | c.3176N>G | p.Asp1059Gly | p.D1059G | Q8TEU7 | protein_coding | deleterious(0.02) | possibly_damaging(0.837) | TCGA-B5-A11E-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RAPGEF6 | SNV | Missense_Mutation | c.4568N>A | p.Ser1523Tyr | p.S1523Y | Q8TEU7 | protein_coding | deleterious_low_confidence(0.02) | possibly_damaging(0.781) | TCGA-B5-A11N-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
RAPGEF6 | SNV | Missense_Mutation | c.1720N>T | p.Arg574Cys | p.R574C | Q8TEU7 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-B5-A1MR-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | |
RAPGEF6 | SNV | Missense_Mutation | novel | c.151N>A | p.Ala51Thr | p.A51T | Q8TEU7 | protein_coding | tolerated(0.56) | benign(0) | TCGA-B5-A1MX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Hormone Therapy | megace | SD |
RAPGEF6 | SNV | Missense_Mutation | novel | c.4289G>A | p.Gly1430Glu | p.G1430E | Q8TEU7 | protein_coding | tolerated_low_confidence(0.49) | benign(0.027) | TCGA-B5-A3FA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RAPGEF6 | SNV | Missense_Mutation | rs780537141 | c.2324A>G | p.Glu775Gly | p.E775G | Q8TEU7 | protein_coding | deleterious(0) | possibly_damaging(0.811) | TCGA-B5-A3FA-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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