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Gene: RAPH1 |
Gene summary for RAPH1 |
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Gene information | Species | Human | Gene symbol | RAPH1 | Gene ID | 65059 |
Gene name | Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 | |
Gene Alias | ALS2CR18 | |
Cytomap | 2q33.2 | |
Gene Type | protein-coding | GO ID | GO:0000902 | UniProtAcc | Q70E73 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
65059 | RAPH1 | CCI_2 | Human | Cervix | CC | 3.05e-15 | 1.24e+00 | 0.5249 |
65059 | RAPH1 | CCI_3 | Human | Cervix | CC | 9.26e-07 | 4.71e-01 | 0.516 |
65059 | RAPH1 | T3 | Human | Cervix | CC | 4.21e-03 | 2.21e-01 | 0.1389 |
65059 | RAPH1 | AEH-subject1 | Human | Endometrium | AEH | 5.73e-08 | 3.21e-01 | -0.3059 |
65059 | RAPH1 | AEH-subject4 | Human | Endometrium | AEH | 4.07e-02 | 3.12e-01 | -0.2657 |
65059 | RAPH1 | AEH-subject5 | Human | Endometrium | AEH | 7.51e-18 | 5.63e-01 | -0.2953 |
65059 | RAPH1 | EEC-subject1 | Human | Endometrium | EEC | 4.49e-08 | 3.79e-01 | -0.2682 |
65059 | RAPH1 | EEC-subject3 | Human | Endometrium | EEC | 8.16e-05 | 3.54e-01 | -0.2525 |
65059 | RAPH1 | EEC-subject4 | Human | Endometrium | EEC | 1.76e-02 | 2.20e-01 | -0.2571 |
65059 | RAPH1 | EEC-subject5 | Human | Endometrium | EEC | 1.01e-02 | 2.09e-01 | -0.249 |
65059 | RAPH1 | LZE4T | Human | Esophagus | ESCC | 2.04e-08 | 1.19e-01 | 0.0811 |
65059 | RAPH1 | LZE5T | Human | Esophagus | ESCC | 1.71e-02 | 8.06e-02 | 0.0514 |
65059 | RAPH1 | LZE20T | Human | Esophagus | ESCC | 2.69e-03 | 3.37e-02 | 0.0662 |
65059 | RAPH1 | LZE24T | Human | Esophagus | ESCC | 9.56e-08 | 2.01e-01 | 0.0596 |
65059 | RAPH1 | P2T-E | Human | Esophagus | ESCC | 1.78e-11 | 1.06e-01 | 0.1177 |
65059 | RAPH1 | P4T-E | Human | Esophagus | ESCC | 5.46e-14 | 2.56e-01 | 0.1323 |
65059 | RAPH1 | P5T-E | Human | Esophagus | ESCC | 3.83e-07 | 1.10e-01 | 0.1327 |
65059 | RAPH1 | P8T-E | Human | Esophagus | ESCC | 5.32e-11 | 1.87e-01 | 0.0889 |
65059 | RAPH1 | P9T-E | Human | Esophagus | ESCC | 1.19e-12 | 2.02e-01 | 0.1131 |
65059 | RAPH1 | P10T-E | Human | Esophagus | ESCC | 9.06e-04 | -9.60e-03 | 0.116 |
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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:00160496 | Lung | IAC | cell growth | 89/2061 | 482/18723 | 6.10e-07 | 3.67e-05 | 89 |
GO:00485885 | Lung | IAC | developmental cell growth | 49/2061 | 234/18723 | 6.67e-06 | 2.43e-04 | 49 |
GO:00486755 | Lung | IAC | axon extension | 29/2061 | 120/18723 | 3.29e-05 | 8.29e-04 | 29 |
GO:19901384 | Lung | IAC | neuron projection extension | 37/2061 | 172/18723 | 4.69e-05 | 1.08e-03 | 37 |
GO:00615646 | Lung | IAC | axon development | 78/2061 | 467/18723 | 1.12e-04 | 2.15e-03 | 78 |
GO:00074096 | Lung | IAC | axonogenesis | 71/2061 | 418/18723 | 1.33e-04 | 2.48e-03 | 71 |
GO:006056012 | Lung | AIS | developmental growth involved in morphogenesis | 51/1849 | 234/18723 | 4.43e-08 | 5.24e-06 | 51 |
GO:001604912 | Lung | AIS | cell growth | 83/1849 | 482/18723 | 3.26e-07 | 2.79e-05 | 83 |
GO:199013812 | Lung | AIS | neuron projection extension | 38/1849 | 172/18723 | 1.57e-06 | 9.85e-05 | 38 |
GO:004858812 | Lung | AIS | developmental cell growth | 47/1849 | 234/18723 | 1.77e-06 | 1.05e-04 | 47 |
GO:004867512 | Lung | AIS | axon extension | 28/1849 | 120/18723 | 1.22e-05 | 4.71e-04 | 28 |
GO:000740911 | Lung | AIS | axonogenesis | 64/1849 | 418/18723 | 2.62e-04 | 5.04e-03 | 64 |
GO:006156411 | Lung | AIS | axon development | 69/1849 | 467/18723 | 4.37e-04 | 7.41e-03 | 69 |
GO:001604910 | Prostate | BPH | cell growth | 139/3107 | 482/18723 | 7.53e-12 | 5.90e-10 | 139 |
GO:00615649 | Prostate | BPH | axon development | 111/3107 | 467/18723 | 3.51e-05 | 3.88e-04 | 111 |
GO:00485888 | Prostate | BPH | developmental cell growth | 61/3107 | 234/18723 | 1.46e-04 | 1.29e-03 | 61 |
GO:00074099 | Prostate | BPH | axonogenesis | 98/3107 | 418/18723 | 1.68e-04 | 1.45e-03 | 98 |
GO:00605608 | Prostate | BPH | developmental growth involved in morphogenesis | 58/3107 | 234/18723 | 8.28e-04 | 5.40e-03 | 58 |
GO:00486758 | Prostate | BPH | axon extension | 33/3107 | 120/18723 | 1.76e-03 | 1.01e-02 | 33 |
GO:19901387 | Prostate | BPH | neuron projection extension | 43/3107 | 172/18723 | 3.06e-03 | 1.60e-02 | 43 |
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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 |
RAPH1 | SNV | Missense_Mutation | novel | c.3486N>T | p.Gln1162His | p.Q1162H | Q70E73 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.993) | TCGA-A8-A07U-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | 5-fluorouracil | SD |
RAPH1 | SNV | Missense_Mutation | c.505N>A | p.Glu169Lys | p.E169K | Q70E73 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.994) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
RAPH1 | SNV | Missense_Mutation | c.419N>T | p.Ser140Phe | p.S140F | Q70E73 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.853) | TCGA-AO-A0JC-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | fluorouracil | SD | |
RAPH1 | SNV | Missense_Mutation | rs747909587 | c.1993G>A | p.Val665Ile | p.V665I | Q70E73 | protein_coding | tolerated_low_confidence(0.34) | benign(0.17) | TCGA-AR-A0TV-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RAPH1 | SNV | Missense_Mutation | rs370726530 | c.1702C>T | p.Arg568Cys | p.R568C | Q70E73 | protein_coding | deleterious(0.01) | probably_damaging(0.996) | TCGA-BH-A1EN-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RAPH1 | SNV | Missense_Mutation | novel | c.1255C>G | p.Leu419Val | p.L419V | Q70E73 | protein_coding | tolerated(0.2) | probably_damaging(0.998) | TCGA-E2-A14Y-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | SD |
RAPH1 | insertion | Nonsense_Mutation | novel | c.3343_3344insGATATTTATGAAGTGATCTTTAACACATCTG | p.Ser1115Ter | p.S1115* | Q70E73 | protein_coding | TCGA-A2-A0CQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD | ||
RAPH1 | insertion | Nonsense_Mutation | novel | c.3483_3484insATTCGTTAAATTTATTGTAACCTAATACCAAAAACTGCCGTTTTT | p.Val1161_Gln1162insIleArgTerIleTyrCysAsnLeuIleProLysThrAlaValPhe | p.V1161_Q1162insIR*IYCNLIPKTAVF | Q70E73 | protein_coding | TCGA-A8-A07U-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | 5-fluorouracil | SD | ||
RAPH1 | insertion | Frame_Shift_Ins | novel | c.2964_2965insGTAGTGACTTGCTTAATTAGTGA | p.His989ValfsTer20 | p.H989Vfs*20 | Q70E73 | protein_coding | TCGA-A8-A097-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD | ||
RAPH1 | insertion | Nonsense_Mutation | novel | c.2872_2873insTTTAGGATGTGCTGACAGATAAGCTCTTT | p.Lys958IlefsTer2 | p.K958Ifs*2 | Q70E73 | protein_coding | TCGA-A8-A09C-01 | Breast | breast invasive 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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