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Gene: RP1 |
Gene summary for RP1 |
Gene summary. |
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 |
Identification of the aberrant gene expression in precancerous and cancerous lesions by comparing the gene expression of stem-like cells in diseased tissues with normal stem cells |
Malignant transformation involving gene list. |
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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Transcriptomic changes along malignancy continuum. |
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 |
Find out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer |
Figure of enriched GO biological processes. |
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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Enriched GO biological processes. |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:1901654113 | Thyroid | PTC | response to ketone | 90/5968 | 194/18723 | 1.56e-05 | 1.65e-04 | 90 |
GO:004577310 | Thyroid | PTC | positive regulation of axon extension | 27/5968 | 42/18723 | 1.58e-05 | 1.67e-04 | 27 |
GO:004657817 | Thyroid | PTC | regulation of Ras protein signal transduction | 88/5968 | 189/18723 | 1.62e-05 | 1.70e-04 | 88 |
GO:004308718 | Thyroid | PTC | regulation of GTPase activity | 148/5968 | 348/18723 | 1.63e-05 | 1.71e-04 | 148 |
GO:0030099113 | Thyroid | PTC | myeloid cell differentiation | 160/5968 | 381/18723 | 1.75e-05 | 1.82e-04 | 160 |
GO:000914226 | Thyroid | PTC | nucleoside triphosphate biosynthetic process | 46/5968 | 85/18723 | 1.76e-05 | 1.83e-04 | 46 |
GO:0010038112 | Thyroid | PTC | response to metal ion | 157/5968 | 373/18723 | 1.80e-05 | 1.86e-04 | 157 |
GO:2001237113 | Thyroid | PTC | negative regulation of extrinsic apoptotic signaling pathway | 51/5968 | 97/18723 | 1.83e-05 | 1.88e-04 | 51 |
GO:006056018 | Thyroid | PTC | developmental growth involved in morphogenesis | 105/5968 | 234/18723 | 1.94e-05 | 1.98e-04 | 105 |
GO:00507708 | Thyroid | PTC | regulation of axonogenesis | 74/5968 | 154/18723 | 1.96e-05 | 2.00e-04 | 74 |
GO:190121518 | Thyroid | PTC | negative regulation of neuron death | 95/5968 | 208/18723 | 2.01e-05 | 2.04e-04 | 95 |
GO:000722918 | Thyroid | PTC | integrin-mediated signaling pathway | 55/5968 | 107/18723 | 2.07e-05 | 2.08e-04 | 55 |
GO:199013817 | Thyroid | PTC | neuron projection extension | 81/5968 | 172/18723 | 2.07e-05 | 2.08e-04 | 81 |
GO:005188119 | Thyroid | PTC | regulation of mitochondrial membrane potential | 41/5968 | 74/18723 | 2.36e-05 | 2.34e-04 | 41 |
GO:000600615 | Thyroid | PTC | glucose metabolic process | 90/5968 | 196/18723 | 2.54e-05 | 2.50e-04 | 90 |
GO:00421479 | Thyroid | PTC | retrograde transport, endosome to Golgi | 48/5968 | 91/18723 | 2.86e-05 | 2.78e-04 | 48 |
GO:00162395 | Thyroid | PTC | positive regulation of macroautophagy | 36/5968 | 63/18723 | 2.98e-05 | 2.86e-04 | 36 |
GO:003223323 | Thyroid | PTC | positive regulation of actin filament bundle assembly | 36/5968 | 63/18723 | 2.98e-05 | 2.86e-04 | 36 |
GO:00062606 | Thyroid | PTC | DNA replication | 114/5968 | 260/18723 | 3.09e-05 | 2.95e-04 | 114 |
GO:1900026110 | Thyroid | PTC | positive regulation of substrate adhesion-dependent cell spreading | 26/5968 | 41/18723 | 3.23e-05 | 3.07e-04 | 26 |
Enriched KEGG pathways. |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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Cell-cell communication analysis |
Identification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states |
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 |
Find out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states |
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 |
Annotation of somatic variants for genes involved in malignant transformation |
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 |
Identification of chemicals and drugs interact with genes involved in malignant transfromation |
(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
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