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Gene: C1orf54 |
Gene summary for C1ORF54 |
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Gene information | Species | Human | Gene symbol | C1orf54 | Gene ID | 79630 |
Gene name | chromosome 1 open reading frame 54 | |
Gene Alias | C1orf54 | |
Cytomap | 1q21.2 | |
Gene Type | protein-coding | GO ID | GO:0005575 | UniProtAcc | Q8WWF1 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
79630 | C1orf54 | PTC06 | Human | Thyroid | PTC | 3.40e-03 | 1.10e-01 | 0.2057 |
79630 | C1orf54 | PTC07 | Human | Thyroid | PTC | 7.93e-07 | 5.01e-02 | 0.2044 |
79630 | C1orf54 | ATC12 | Human | Thyroid | ATC | 1.49e-03 | 2.08e-01 | 0.34 |
79630 | C1orf54 | ATC13 | Human | Thyroid | ATC | 6.67e-32 | 8.66e-01 | 0.34 |
79630 | C1orf54 | ATC4 | Human | Thyroid | ATC | 2.19e-07 | 2.87e-01 | 0.34 |
79630 | C1orf54 | ATC5 | Human | Thyroid | ATC | 2.18e-42 | 9.40e-01 | 0.34 |
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Tissue | Expression Dynamics | Abbreviation |
Thyroid | ![]() | ATC: Anaplastic thyroid cancer |
HT: Hashimoto's thyroiditis | ||
PTC: Papillary thyroid cancer |
∗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 |
Breast | Precancer | ![]() |
Breast | IDC | ![]() |
Breast | DCIS | ![]() |
Cervix | CC | ![]() |
Cervix | HSIL_HPV | ![]() |
∗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 |
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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 |
C1orf54 | SNV | Missense_Mutation | c.85N>A | p.Glu29Lys | p.E29K | Q8WWF1 | protein_coding | tolerated_low_confidence(0.07) | benign(0.223) | TCGA-AO-A0J6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | |
C1orf54 | SNV | Missense_Mutation | rs782767385 | c.152N>T | p.Thr51Ile | p.T51I | Q8WWF1 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-BH-A1ES-06 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
C1orf54 | SNV | Missense_Mutation | rs149781166 | c.180N>C | p.Glu60Asp | p.E60D | Q8WWF1 | protein_coding | deleterious(0.01) | probably_damaging(0.994) | TCGA-PL-A8LZ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | SD |
C1orf54 | insertion | Nonsense_Mutation | novel | c.23_24insATGTTGAGCAGATACTTATTAACTTCC | p.Ile8_Phe9insCysTerAlaAspThrTyrTerLeuPro | p.I8_F9insC*ADTY*LP | Q8WWF1 | protein_coding | TCGA-AN-A0FK-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | ||
C1orf54 | SNV | Missense_Mutation | rs782542523 | c.223N>A | p.Glu75Lys | p.E75K | Q8WWF1 | protein_coding | deleterious(0.03) | benign(0.251) | TCGA-JW-A5VJ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |
C1orf54 | SNV | Missense_Mutation | rs782598834 | c.251G>A | p.Arg84His | p.R84H | Q8WWF1 | protein_coding | tolerated_low_confidence(0.44) | benign(0) | TCGA-AP-A1E0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | SD |
C1orf54 | SNV | Missense_Mutation | novel | c.384G>T | p.Met128Ile | p.M128I | Q8WWF1 | protein_coding | tolerated_low_confidence(0.11) | benign(0.006) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
C1orf54 | SNV | Missense_Mutation | c.290N>G | p.Thr97Arg | p.T97R | Q8WWF1 | protein_coding | deleterious_low_confidence(0.04) | possibly_damaging(0.775) | TCGA-44-7670-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Chemotherapy | docetaxel | SD | |
C1orf54 | SNV | Missense_Mutation | c.176N>T | p.Ser59Leu | p.S59L | Q8WWF1 | protein_coding | tolerated(0.18) | benign(0.011) | TCGA-18-3410-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
C1orf54 | SNV | Missense_Mutation | rs782739675 | c.335N>A | p.Arg112Gln | p.R112Q | Q8WWF1 | protein_coding | tolerated_low_confidence(1) | benign(0.001) | TCGA-52-7810-01 | Lung | lung squamous cell 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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