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Gene: RAB3GAP1 |
Gene summary for RAB3GAP1 |
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Gene information | Species | Human | Gene symbol | RAB3GAP1 | Gene ID | 22930 |
Gene name | RAB3 GTPase activating protein catalytic subunit 1 | |
Gene Alias | MARTS2 | |
Cytomap | 2q21.3 | |
Gene Type | protein-coding | GO ID | GO:0000045 | UniProtAcc | Q15042 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
22930 | RAB3GAP1 | CCI_1 | Human | Cervix | CC | 2.79e-06 | 7.12e-01 | 0.528 |
22930 | RAB3GAP1 | CCI_2 | Human | Cervix | CC | 9.04e-06 | 7.41e-01 | 0.5249 |
22930 | RAB3GAP1 | CCI_3 | Human | Cervix | CC | 5.48e-10 | 6.59e-01 | 0.516 |
22930 | RAB3GAP1 | HTA11_3410_2000001011 | Human | Colorectum | AD | 1.97e-15 | -5.46e-01 | 0.0155 |
22930 | RAB3GAP1 | HTA11_3361_2000001011 | Human | Colorectum | AD | 2.99e-02 | -3.50e-01 | -0.1207 |
22930 | RAB3GAP1 | HTA11_866_3004761011 | Human | Colorectum | AD | 3.24e-06 | -4.20e-01 | 0.096 |
22930 | RAB3GAP1 | HTA11_7696_3000711011 | Human | Colorectum | AD | 1.88e-10 | -4.21e-01 | 0.0674 |
22930 | RAB3GAP1 | HTA11_99999974143_84620 | Human | Colorectum | MSS | 4.73e-07 | -3.92e-01 | 0.3005 |
22930 | RAB3GAP1 | F007 | Human | Colorectum | FAP | 2.62e-04 | -2.72e-01 | 0.1176 |
22930 | RAB3GAP1 | A001-C-207 | Human | Colorectum | FAP | 7.72e-04 | -2.20e-01 | 0.1278 |
22930 | RAB3GAP1 | A015-C-203 | Human | Colorectum | FAP | 1.88e-25 | -4.37e-01 | -0.1294 |
22930 | RAB3GAP1 | A015-C-204 | Human | Colorectum | FAP | 3.77e-08 | -3.29e-01 | -0.0228 |
22930 | RAB3GAP1 | A014-C-040 | Human | Colorectum | FAP | 7.64e-05 | -3.80e-01 | -0.1184 |
22930 | RAB3GAP1 | A002-C-201 | Human | Colorectum | FAP | 8.20e-20 | -4.47e-01 | 0.0324 |
22930 | RAB3GAP1 | A002-C-203 | Human | Colorectum | FAP | 1.46e-02 | -2.17e-01 | 0.2786 |
22930 | RAB3GAP1 | A001-C-119 | Human | Colorectum | FAP | 2.73e-09 | -4.28e-01 | -0.1557 |
22930 | RAB3GAP1 | A001-C-108 | Human | Colorectum | FAP | 4.56e-20 | -3.23e-01 | -0.0272 |
22930 | RAB3GAP1 | A002-C-205 | Human | Colorectum | FAP | 1.23e-26 | -4.64e-01 | -0.1236 |
22930 | RAB3GAP1 | A001-C-104 | Human | Colorectum | FAP | 1.89e-03 | -2.67e-01 | 0.0184 |
22930 | RAB3GAP1 | A015-C-005 | Human | Colorectum | FAP | 1.32e-03 | -2.05e-01 | -0.0336 |
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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:00000456 | Skin | cSCC | autophagosome assembly | 44/4864 | 99/18723 | 5.18e-05 | 5.30e-04 | 44 |
GO:19050376 | Skin | cSCC | autophagosome organization | 45/4864 | 103/18723 | 7.11e-05 | 6.85e-04 | 45 |
GO:00440885 | Skin | cSCC | regulation of vacuole organization | 24/4864 | 45/18723 | 8.34e-05 | 7.94e-04 | 24 |
GO:190211515 | Skin | cSCC | regulation of organelle assembly | 72/4864 | 186/18723 | 8.90e-05 | 8.35e-04 | 72 |
GO:007178612 | Skin | cSCC | endoplasmic reticulum tubular network organization | 11/4864 | 18/18723 | 1.74e-03 | 1.06e-02 | 11 |
GO:20007854 | Skin | cSCC | regulation of autophagosome assembly | 19/4864 | 39/18723 | 1.89e-03 | 1.14e-02 | 19 |
GO:00105089 | Skin | cSCC | positive regulation of autophagy | 45/4864 | 124/18723 | 7.08e-03 | 3.40e-02 | 45 |
GO:0009896113 | Thyroid | PTC | positive regulation of catabolic process | 278/5968 | 492/18723 | 3.35e-30 | 2.64e-27 | 278 |
GO:0031331113 | Thyroid | PTC | positive regulation of cellular catabolic process | 249/5968 | 427/18723 | 5.28e-30 | 3.58e-27 | 249 |
GO:0072594112 | Thyroid | PTC | establishment of protein localization to organelle | 244/5968 | 422/18723 | 1.18e-28 | 4.97e-26 | 244 |
GO:0016236110 | Thyroid | PTC | macroautophagy | 167/5968 | 291/18723 | 1.51e-19 | 1.91e-17 | 167 |
GO:0090150112 | Thyroid | PTC | establishment of protein localization to membrane | 149/5968 | 260/18723 | 1.64e-17 | 1.59e-15 | 149 |
GO:0010506110 | Thyroid | PTC | regulation of autophagy | 172/5968 | 317/18723 | 8.76e-17 | 7.57e-15 | 172 |
GO:001624110 | Thyroid | PTC | regulation of macroautophagy | 84/5968 | 141/18723 | 1.04e-11 | 4.27e-10 | 84 |
GO:0070972111 | Thyroid | PTC | protein localization to endoplasmic reticulum | 51/5968 | 74/18723 | 6.57e-11 | 2.30e-09 | 51 |
GO:000703315 | Thyroid | PTC | vacuole organization | 96/5968 | 180/18723 | 1.80e-09 | 5.13e-08 | 96 |
GO:001050810 | Thyroid | PTC | positive regulation of autophagy | 70/5968 | 124/18723 | 1.30e-08 | 3.08e-07 | 70 |
GO:000702915 | Thyroid | PTC | endoplasmic reticulum organization | 51/5968 | 87/18723 | 2.37e-07 | 4.15e-06 | 51 |
GO:007259918 | Thyroid | PTC | establishment of protein localization to endoplasmic reticulum | 31/5968 | 46/18723 | 8.06e-07 | 1.24e-05 | 31 |
GO:000004514 | Thyroid | PTC | autophagosome assembly | 54/5968 | 99/18723 | 2.46e-06 | 3.22e-05 | 54 |
Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 |
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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 |
RAB3GAP1 | SNV | Missense_Mutation | rs757654937 | c.2187N>A | p.Met729Ile | p.M729I | Q15042 | protein_coding | deleterious(0.02) | benign(0.259) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
RAB3GAP1 | SNV | Missense_Mutation | novel | c.1604N>C | p.Lys535Thr | p.K535T | Q15042 | protein_coding | deleterious(0.03) | benign(0.241) | TCGA-E2-A150-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
RAB3GAP1 | SNV | Missense_Mutation | c.238G>A | p.Val80Ile | p.V80I | Q15042 | protein_coding | tolerated(0.33) | benign(0.197) | TCGA-GM-A2DA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | fluorouracil | PD | |
RAB3GAP1 | SNV | Missense_Mutation | novel | c.442N>T | p.Leu148Phe | p.L148F | Q15042 | protein_coding | deleterious(0) | probably_damaging(0.941) | TCGA-PE-A5DE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
RAB3GAP1 | deletion | Frame_Shift_Del | novel | c.1153_1159delNNNNNNN | p.His385GlnfsTer11 | p.H385Qfs*11 | Q15042 | protein_coding | TCGA-A8-A094-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
RAB3GAP1 | deletion | Frame_Shift_Del | novel | c.2923delN | p.Phe975LeufsTer53 | p.F975Lfs*53 | Q15042 | protein_coding | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD | ||
RAB3GAP1 | SNV | Missense_Mutation | c.1358N>T | p.Ser453Phe | p.S453F | Q15042 | protein_coding | tolerated(0.1) | probably_damaging(0.915) | TCGA-BI-A20A-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
RAB3GAP1 | SNV | Missense_Mutation | c.1076N>G | p.Asp359Gly | p.D359G | Q15042 | protein_coding | deleterious(0) | benign(0.335) | TCGA-EK-A2PM-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD | |
RAB3GAP1 | SNV | Missense_Mutation | novel | c.2680N>T | p.Ile894Phe | p.I894F | Q15042 | protein_coding | deleterious(0) | benign(0.267) | TCGA-5M-AATE-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
RAB3GAP1 | SNV | Missense_Mutation | c.560G>A | p.Arg187Gln | p.R187Q | Q15042 | protein_coding | tolerated(0.1) | probably_damaging(0.998) | TCGA-AA-3510-01 | Colorectum | colon adenocarcinoma | Male | >=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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