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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:007259432 | Oral cavity | NEOLP | establishment of protein localization to organelle | 84/2005 | 422/18723 | 1.30e-08 | 6.10e-07 | 84 |
GO:01500631 | Oral cavity | NEOLP | visual system development | 70/2005 | 375/18723 | 2.46e-06 | 5.64e-05 | 70 |
GO:000165411 | Oral cavity | NEOLP | eye development | 69/2005 | 371/18723 | 3.30e-06 | 7.40e-05 | 69 |
GO:00488801 | Oral cavity | NEOLP | sensory system development | 70/2005 | 381/18723 | 4.38e-06 | 9.42e-05 | 70 |
GO:00603241 | Oral cavity | NEOLP | face development | 16/2005 | 44/18723 | 6.27e-06 | 1.26e-04 | 16 |
GO:001050631 | Oral cavity | NEOLP | regulation of autophagy | 60/2005 | 317/18723 | 8.06e-06 | 1.57e-04 | 60 |
GO:003090013 | Oral cavity | NEOLP | forebrain development | 67/2005 | 379/18723 | 2.54e-05 | 3.99e-04 | 67 |
GO:001623631 | Oral cavity | NEOLP | macroautophagy | 54/2005 | 291/18723 | 3.95e-05 | 5.62e-04 | 54 |
GO:00603231 | Oral cavity | NEOLP | head morphogenesis | 12/2005 | 32/18723 | 6.38e-05 | 8.40e-04 | 12 |
GO:00603251 | Oral cavity | NEOLP | face morphogenesis | 11/2005 | 28/18723 | 7.84e-05 | 1.00e-03 | 11 |
GO:0010171 | Oral cavity | NEOLP | body morphogenesis | 14/2005 | 43/18723 | 9.66e-05 | 1.18e-03 | 14 |
GO:001623921 | Oral cavity | NEOLP | positive regulation of macroautophagy | 17/2005 | 63/18723 | 2.45e-04 | 2.54e-03 | 17 |
GO:0043010 | Oral cavity | NEOLP | camera-type eye development | 55/2005 | 322/18723 | 3.20e-04 | 3.11e-03 | 55 |
GO:000703331 | Oral cavity | NEOLP | vacuole organization | 35/2005 | 180/18723 | 3.44e-04 | 3.33e-03 | 35 |
GO:001050831 | Oral cavity | NEOLP | positive regulation of autophagy | 26/2005 | 124/18723 | 5.88e-04 | 5.08e-03 | 26 |
GO:000004531 | Oral cavity | NEOLP | autophagosome assembly | 22/2005 | 99/18723 | 6.64e-04 | 5.54e-03 | 22 |
GO:001624131 | Oral cavity | NEOLP | regulation of macroautophagy | 28/2005 | 141/18723 | 9.15e-04 | 7.13e-03 | 28 |
GO:19050373 | Oral cavity | NEOLP | autophagosome organization | 22/2005 | 103/18723 | 1.16e-03 | 8.66e-03 | 22 |
GO:004308722 | Oral cavity | NEOLP | regulation of GTPase activity | 54/2005 | 348/18723 | 3.36e-03 | 2.00e-02 | 54 |
GO:190211721 | Oral cavity | NEOLP | positive regulation of organelle assembly | 15/2005 | 67/18723 | 4.20e-03 | 2.38e-02 | 15 |
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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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