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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 | RNA-P25T1-P25T1-1 | Human | Lung | AIS | 2.59e-02 | 3.45e-01 | -0.2116 |
65059 | RAPH1 | RNA-P25T1-P25T1-4 | Human | Lung | AIS | 2.17e-03 | 3.31e-01 | -0.2119 |
65059 | RAPH1 | RNA-P3T-P3T-1 | Human | Lung | IAC | 3.06e-06 | 5.92e-01 | 0.1829 |
65059 | RAPH1 | RNA-P3T-P3T-2 | Human | Lung | IAC | 1.07e-04 | 5.22e-01 | 0.1835 |
65059 | RAPH1 | RNA-P3T-P3T-4 | Human | Lung | IAC | 1.61e-08 | 6.68e-01 | 0.1859 |
65059 | RAPH1 | RNA-P6T2-P6T2-1 | Human | Lung | IAC | 1.47e-14 | 5.28e-01 | -0.0166 |
65059 | RAPH1 | RNA-P6T2-P6T2-2 | Human | Lung | IAC | 1.00e-15 | 5.13e-01 | -0.0132 |
65059 | RAPH1 | RNA-P6T2-P6T2-3 | Human | Lung | IAC | 1.45e-22 | 6.28e-01 | -0.013 |
65059 | RAPH1 | RNA-P6T2-P6T2-4 | Human | Lung | IAC | 2.66e-12 | 5.05e-01 | -0.0121 |
65059 | RAPH1 | RNA-P7T1-P7T1-2 | Human | Lung | AIS | 2.53e-02 | 4.70e-01 | -0.0876 |
65059 | RAPH1 | RNA-P7T1-P7T1-3 | Human | Lung | AIS | 5.69e-03 | 5.49e-01 | -0.0822 |
65059 | RAPH1 | RNA-P7T1-P7T1-4 | Human | Lung | AIS | 5.33e-04 | 5.21e-01 | -0.0809 |
65059 | RAPH1 | HTA12-25-1 | Human | Pancreas | PDAC | 1.72e-04 | 5.21e-01 | 0.313 |
65059 | RAPH1 | HTA12-26-1 | Human | Pancreas | PDAC | 1.03e-06 | 5.19e-01 | 0.3728 |
65059 | RAPH1 | HTA12-29-1 | Human | Pancreas | PDAC | 6.54e-19 | 5.19e-01 | 0.3722 |
65059 | RAPH1 | HTA12-9-2 | Human | Pancreas | PDAC | 3.59e-04 | 4.10e-01 | 0.0835 |
65059 | RAPH1 | GSM5252132_BPH389PrGF | Human | Prostate | BPH | 4.59e-06 | 3.93e-01 | -0.2247 |
65059 | RAPH1 | 047563_1562-all-cells | Human | Prostate | BPH | 2.70e-13 | 4.45e-01 | 0.0791 |
65059 | RAPH1 | 048752_1579-all-cells | Human | Prostate | BPH | 4.88e-20 | 4.89e-01 | 0.1008 |
65059 | RAPH1 | 052095_1628-all-cells | Human | Prostate | BPH | 7.54e-16 | 4.10e-01 | 0.1032 |
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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:00160498 | Cervix | CC | cell growth | 92/2311 | 482/18723 | 1.16e-05 | 2.49e-04 | 92 |
GO:00615647 | Cervix | CC | axon development | 89/2311 | 467/18723 | 1.71e-05 | 3.27e-04 | 89 |
GO:00074097 | Cervix | CC | axonogenesis | 78/2311 | 418/18723 | 1.14e-04 | 1.43e-03 | 78 |
GO:00605606 | Cervix | CC | developmental growth involved in morphogenesis | 46/2311 | 234/18723 | 8.82e-04 | 7.63e-03 | 46 |
GO:00486756 | Cervix | CC | axon extension | 26/2311 | 120/18723 | 2.80e-03 | 1.87e-02 | 26 |
GO:19901385 | Cervix | CC | neuron projection extension | 34/2311 | 172/18723 | 3.52e-03 | 2.27e-02 | 34 |
GO:00485886 | Cervix | CC | developmental cell growth | 42/2311 | 234/18723 | 7.88e-03 | 4.15e-02 | 42 |
GO:00160499 | Endometrium | AEH | cell growth | 93/2100 | 482/18723 | 1.00e-07 | 4.99e-06 | 93 |
GO:00605607 | Endometrium | AEH | developmental growth involved in morphogenesis | 53/2100 | 234/18723 | 4.02e-07 | 1.67e-05 | 53 |
GO:00074098 | Endometrium | AEH | axonogenesis | 81/2100 | 418/18723 | 5.54e-07 | 2.12e-05 | 81 |
GO:00615648 | Endometrium | AEH | axon development | 88/2100 | 467/18723 | 6.39e-07 | 2.38e-05 | 88 |
GO:00486757 | Endometrium | AEH | axon extension | 31/2100 | 120/18723 | 6.13e-06 | 1.50e-04 | 31 |
GO:00485887 | Endometrium | AEH | developmental cell growth | 48/2100 | 234/18723 | 2.39e-05 | 4.53e-04 | 48 |
GO:19901386 | Endometrium | AEH | neuron projection extension | 38/2100 | 172/18723 | 3.03e-05 | 5.56e-04 | 38 |
GO:006156412 | Endometrium | EEC | axon development | 93/2168 | 467/18723 | 9.60e-08 | 4.69e-06 | 93 |
GO:001604915 | Endometrium | EEC | cell growth | 95/2168 | 482/18723 | 1.16e-07 | 5.54e-06 | 95 |
GO:006056013 | Endometrium | EEC | developmental growth involved in morphogenesis | 54/2168 | 234/18723 | 4.60e-07 | 1.78e-05 | 54 |
GO:000740912 | Endometrium | EEC | axonogenesis | 82/2168 | 418/18723 | 1.03e-06 | 3.49e-05 | 82 |
GO:004867513 | Endometrium | EEC | axon extension | 31/2168 | 120/18723 | 1.17e-05 | 2.43e-04 | 31 |
GO:004858813 | Endometrium | EEC | developmental cell growth | 49/2168 | 234/18723 | 2.59e-05 | 4.56e-04 | 49 |
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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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