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Gene: RP1 |
Gene summary for RP1 |
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Gene information | Species | Human | Gene symbol | RP1 | Gene ID | 6101 |
Gene name | RP1 axonemal microtubule associated | |
Gene Alias | DCDC4A | |
Cytomap | 8q11.23-q12.1 | |
Gene Type | protein-coding | GO ID | GO:0000226 | UniProtAcc | P56715 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
6101 | RP1 | TD9 | Human | Lung | IAC | 1.99e-06 | 1.00e+00 | 0.088 |
6101 | RP1 | RNA-P25T1-P25T1-1 | Human | Lung | AIS | 1.35e-14 | 6.37e-01 | -0.2116 |
6101 | RP1 | RNA-P25T1-P25T1-2 | Human | Lung | AIS | 1.36e-03 | 4.77e-01 | -0.1941 |
6101 | RP1 | RNA-P25T1-P25T1-3 | Human | Lung | AIS | 4.20e-06 | 5.18e-01 | -0.2107 |
6101 | RP1 | RNA-P25T1-P25T1-4 | Human | Lung | AIS | 1.40e-11 | 6.14e-01 | -0.2119 |
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Tissue | Expression Dynamics | Abbreviation |
Lung | ![]() | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ | ||
IAC: Invasive lung adenocarcinoma | ||
MIA: Minimally invasive adenocarcinoma |
∗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:00300985 | Skin | AK | lymphocyte differentiation | 57/1910 | 374/18723 | 1.34e-03 | 1.00e-02 | 57 |
GO:0048546 | Skin | AK | digestive tract morphogenesis | 12/1910 | 45/18723 | 1.43e-03 | 1.05e-02 | 12 |
GO:002191510 | Skin | AK | neural tube development | 28/1910 | 152/18723 | 1.44e-03 | 1.06e-02 | 28 |
GO:00305102 | Skin | AK | regulation of BMP signaling pathway | 20/1910 | 96/18723 | 1.46e-03 | 1.06e-02 | 20 |
GO:19016557 | Skin | AK | cellular response to ketone | 20/1910 | 96/18723 | 1.46e-03 | 1.06e-02 | 20 |
GO:000758415 | Skin | AK | response to nutrient | 31/1910 | 174/18723 | 1.46e-03 | 1.06e-02 | 31 |
GO:00303367 | Skin | AK | negative regulation of cell migration | 53/1910 | 344/18723 | 1.52e-03 | 1.10e-02 | 53 |
GO:003090119 | Skin | AK | midbrain development | 19/1910 | 90/18723 | 1.61e-03 | 1.15e-02 | 19 |
GO:007148110 | Skin | AK | cellular response to X-ray | 6/1910 | 14/18723 | 1.63e-03 | 1.15e-02 | 6 |
GO:00600715 | Skin | AK | Wnt signaling pathway, planar cell polarity pathway | 13/1910 | 52/18723 | 1.75e-03 | 1.23e-02 | 13 |
GO:007048225 | Skin | AK | response to oxygen levels | 53/1910 | 347/18723 | 1.84e-03 | 1.27e-02 | 53 |
GO:005134828 | Skin | AK | negative regulation of transferase activity | 43/1910 | 268/18723 | 1.85e-03 | 1.27e-02 | 43 |
GO:000759910 | Skin | AK | hemostasis | 37/1910 | 222/18723 | 1.89e-03 | 1.29e-02 | 37 |
GO:003461225 | Skin | AK | response to tumor necrosis factor | 41/1910 | 253/18723 | 1.92e-03 | 1.31e-02 | 41 |
GO:009730526 | Skin | AK | response to alcohol | 41/1910 | 253/18723 | 1.92e-03 | 1.31e-02 | 41 |
GO:000941025 | Skin | AK | response to xenobiotic stimulus | 67/1910 | 462/18723 | 1.98e-03 | 1.34e-02 | 67 |
GO:000926720 | Skin | AK | cellular response to starvation | 28/1910 | 156/18723 | 2.15e-03 | 1.43e-02 | 28 |
GO:19037076 | Skin | AK | negative regulation of hemopoiesis | 21/1910 | 106/18723 | 2.17e-03 | 1.44e-02 | 21 |
GO:00481473 | Skin | AK | negative regulation of fibroblast proliferation | 9/1910 | 30/18723 | 2.30e-03 | 1.52e-02 | 9 |
GO:000759610 | Skin | AK | blood coagulation | 36/1910 | 217/18723 | 2.34e-03 | 1.54e-02 | 36 |
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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 |
SEMA3D | NRP1_PLXNA2 | SEMA3D_NRP1_PLXNA2 | SEMA3 | Breast | ADJ |
MDK | LRP1 | MDK_LRP1 | MK | Breast | DCIS |
SEMA4A | NRP1_PLXNA4 | SEMA4A_NRP1_PLXNA4 | SEMA4 | Breast | DCIS |
SEMA3C | NRP1_PLXNA4 | SEMA3C_NRP1_PLXNA4 | SEMA3 | Breast | DCIS |
SEMA3D | NRP1_PLXNA4 | SEMA3D_NRP1_PLXNA4 | SEMA3 | Breast | DCIS |
SEMA3C | NRP1_NRP2 | SEMA3C_NRP1_NRP2 | SEMA3 | Breast | DCIS |
MDK | LRP1 | MDK_LRP1 | MK | Breast | Healthy |
SEMA3C | NRP1_PLXNA2 | SEMA3C_NRP1_PLXNA2 | SEMA3 | Breast | Healthy |
SEMA3D | NRP1_PLXNA2 | SEMA3D_NRP1_PLXNA2 | SEMA3 | Breast | Healthy |
SEMA3C | NRP1_NRP2 | SEMA3C_NRP1_NRP2 | SEMA3 | Breast | Healthy |
MDK | LRP1 | MDK_LRP1 | MK | Breast | IDC |
MDK | LRP1 | MDK_LRP1 | MK | Breast | Precancer |
MDK | LRP1 | MDK_LRP1 | MK | Cervix | ADJ |
SEMA3C | NRP1_NRP2 | SEMA3C_NRP1_NRP2 | SEMA3 | Cervix | ADJ |
MDK | LRP1 | MDK_LRP1 | MK | Cervix | CC |
SEMA3C | NRP1_PLXNA2 | SEMA3C_NRP1_PLXNA2 | SEMA3 | Cervix | CC |
SEMA3C | NRP1_NRP2 | SEMA3C_NRP1_NRP2 | SEMA3 | Cervix | CC |
SEMA4A | NRP1_PLXNA2 | SEMA4A_NRP1_PLXNA2 | SEMA4 | Cervix | CC |
MDK | LRP1 | MDK_LRP1 | MK | Cervix | Healthy |
MDK | LRP1 | MDK_LRP1 | MK | Cervix | Precancer |
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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 |
RP1 | SNV | Missense_Mutation | novel | c.81G>C | p.Leu27Phe | p.L27F | P56715 | protein_coding | tolerated(0.65) | benign(0.007) | TCGA-3C-AALI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Poly E | Complete Response |
RP1 | SNV | Missense_Mutation | rs747714373 | c.2978C>G | p.Ser993Cys | p.S993C | P56715 | protein_coding | deleterious(0.02) | possibly_damaging(0.781) | TCGA-5L-AAT0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
RP1 | SNV | Missense_Mutation | c.4362C>A | p.Ser1454Arg | p.S1454R | P56715 | protein_coding | deleterious(0) | probably_damaging(0.968) | TCGA-A2-A0CW-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD | |
RP1 | SNV | Missense_Mutation | novel | c.1138N>T | p.Pro380Ser | p.P380S | protein_coding | deleterious(0.04) | probably_damaging(0.923) | TCGA-A2-A3XV-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR | |
RP1 | SNV | Missense_Mutation | novel | c.983N>G | p.Lys328Arg | p.K328R | protein_coding | deleterious(0.01) | probably_damaging(0.994) | TCGA-A7-A4SF-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR | |
RP1 | SNV | Missense_Mutation | c.2516N>C | p.Gln839Pro | p.Q839P | P56715 | protein_coding | deleterious(0.03) | possibly_damaging(0.641) | TCGA-A8-A06X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
RP1 | SNV | Missense_Mutation | novel | c.4466C>T | p.Ala1489Val | p.A1489V | P56715 | protein_coding | tolerated(0.22) | benign(0.01) | TCGA-A8-A092-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | CR |
RP1 | SNV | Missense_Mutation | c.2675N>T | p.Ala892Val | p.A892V | P56715 | protein_coding | tolerated(0.14) | benign(0.039) | TCGA-A8-A09B-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | 5-fluorouracil | SD | |
RP1 | SNV | Missense_Mutation | c.1895N>T | p.Ser632Leu | p.S632L | P56715 | protein_coding | tolerated(0.2) | benign(0.042) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
RP1 | SNV | Missense_Mutation | c.4027N>A | p.Asp1343Asn | p.D1343N | P56715 | protein_coding | tolerated(0.07) | benign(0) | TCGA-AN-A041-01 | 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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