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Gene: C4orf48 |
Gene summary for C4ORF48 |
Gene summary. |
Gene information | Species | Human | Gene symbol | C4orf48 | Gene ID | 401115 |
Gene name | chromosome 4 open reading frame 48 | |
Gene Alias | CHR4_55 | |
Cytomap | 4p16.3 | |
Gene Type | protein-coding | GO ID | GO:0005575 | UniProtAcc | NA |
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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 |
401115 | C4orf48 | AEH-subject3 | Human | Endometrium | AEH | 6.42e-23 | 4.55e-01 | -0.2576 |
401115 | C4orf48 | AEH-subject4 | Human | Endometrium | AEH | 1.05e-03 | -7.22e-02 | -0.2657 |
401115 | C4orf48 | EEC-subject1 | Human | Endometrium | EEC | 1.95e-04 | -1.85e-03 | -0.2682 |
401115 | C4orf48 | EEC-subject2 | Human | Endometrium | EEC | 5.66e-28 | 4.69e-01 | -0.2607 |
401115 | C4orf48 | EEC-subject3 | Human | Endometrium | EEC | 1.06e-30 | -2.75e-01 | -0.2525 |
401115 | C4orf48 | EEC-subject4 | Human | Endometrium | EEC | 4.47e-04 | -1.09e-01 | -0.2571 |
401115 | C4orf48 | EEC-subject5 | Human | Endometrium | EEC | 3.93e-06 | 6.84e-02 | -0.249 |
401115 | C4orf48 | GSM5276934 | Human | Endometrium | EEC | 9.15e-17 | -4.39e-01 | -0.0913 |
401115 | C4orf48 | GSM5276935 | Human | Endometrium | EEC | 7.54e-08 | 3.26e-01 | -0.123 |
401115 | C4orf48 | GSM5276937 | Human | Endometrium | EEC | 3.40e-08 | -3.49e-01 | -0.0897 |
401115 | C4orf48 | GSM6177620_NYU_UCEC1_lib1_lib1 | Human | Endometrium | EEC | 3.00e-16 | -2.60e-01 | -0.1869 |
401115 | C4orf48 | GSM6177620_NYU_UCEC1_lib2_lib2 | Human | Endometrium | EEC | 3.09e-16 | -3.03e-01 | -0.1875 |
401115 | C4orf48 | GSM6177620_NYU_UCEC1_lib3_lib3 | Human | Endometrium | EEC | 4.85e-23 | -4.19e-01 | -0.1883 |
401115 | C4orf48 | GSM6177621_NYU_UCEC2_lib1_lib1 | Human | Endometrium | EEC | 4.91e-25 | -2.23e-01 | -0.1934 |
401115 | C4orf48 | GSM6177622_NYU_UCEC3_lib1_lib1 | Human | Endometrium | EEC | 6.94e-42 | -3.36e-01 | -0.1917 |
401115 | C4orf48 | GSM6177622_NYU_UCEC3_lib2_lib2 | Human | Endometrium | EEC | 6.03e-31 | -3.20e-01 | -0.1916 |
401115 | C4orf48 | GSM6177623_NYU_UCEC3_Vis | Human | Endometrium | EEC | 5.84e-31 | -4.87e-01 | -0.1269 |
401115 | C4orf48 | LZE2D | Human | Esophagus | HGIN | 1.48e-03 | 6.34e-01 | 0.0642 |
401115 | C4orf48 | LZE2T | Human | Esophagus | ESCC | 7.35e-03 | 6.90e-01 | 0.082 |
401115 | C4orf48 | LZE22T | Human | Esophagus | ESCC | 8.18e-07 | 7.29e-01 | 0.068 |
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Transcriptomic changes along malignancy continuum. |
∗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 |
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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 |
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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 |
C4orf48 | SNV | Missense_Mutation | c.350N>A | p.Arg117His | p.R117H | Q5BLP8 | protein_coding | deleterious(0) | possibly_damaging(0.872) | TCGA-BH-A1FU-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD | |
C4orf48 | deletion | Frame_Shift_Del | novel | c.351delN | p.Arg118ValfsTer20 | p.R118Vfs*20 | Q5BLP8 | protein_coding | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | ||
C4orf48 | SNV | Missense_Mutation | c.350N>A | p.Arg117His | p.R117H | Q5BLP8 | protein_coding | deleterious(0) | possibly_damaging(0.872) | TCGA-FI-A2D0-01 | Endometrium | uterine corpus endometrioid 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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