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Gene: C12orf4 |
Gene summary for C12ORF4 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | C12orf4 | Gene ID | 57102 |
| Gene name | chromosome 12 open reading frame 4 | |
| Gene Alias | C12orf4 | |
| Cytomap | 12p13.32 | |
| Gene Type | protein-coding | GO ID | GO:0001775 | UniProtAcc | Q9NQ89 |
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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 |
| 57102 | C12orf4 | C21 | Human | Oral cavity | OSCC | 5.73e-06 | 3.29e-01 | 0.2678 |
| 57102 | C12orf4 | C30 | Human | Oral cavity | OSCC | 1.51e-10 | 6.81e-01 | 0.3055 |
| 57102 | C12orf4 | C43 | Human | Oral cavity | OSCC | 2.16e-07 | 1.08e-01 | 0.1704 |
| 57102 | C12orf4 | C46 | Human | Oral cavity | OSCC | 4.67e-02 | 9.29e-02 | 0.1673 |
| 57102 | C12orf4 | C06 | Human | Oral cavity | OSCC | 7.06e-08 | 1.38e+00 | 0.2699 |
| 57102 | C12orf4 | C08 | Human | Oral cavity | OSCC | 8.84e-09 | 1.71e-01 | 0.1919 |
| 57102 | C12orf4 | SYSMH2 | Human | Oral cavity | OSCC | 5.55e-04 | 1.36e-01 | 0.2326 |
| 57102 | C12orf4 | SYSMH3 | Human | Oral cavity | OSCC | 3.98e-07 | 1.66e-01 | 0.2442 |
| 57102 | C12orf4 | SYSMH5 | Human | Oral cavity | OSCC | 2.87e-02 | 7.41e-02 | 0.0647 |
| Page: 1 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma |
| ∗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). |
| Page: 1 2 3 4 5 6 7 8 9 |
| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| GO:001605517 | Esophagus | ESCC | Wnt signaling pathway | 268/8552 | 444/18723 | 2.32e-10 | 6.58e-09 | 268 |
| GO:019873817 | Esophagus | ESCC | cell-cell signaling by wnt | 269/8552 | 446/18723 | 2.41e-10 | 6.79e-09 | 269 |
| GO:003011117 | Esophagus | ESCC | regulation of Wnt signaling pathway | 194/8552 | 328/18723 | 5.39e-07 | 7.14e-06 | 194 |
| GO:00301788 | Esophagus | ESCC | negative regulation of Wnt signaling pathway | 97/8552 | 170/18723 | 1.81e-03 | 8.31e-03 | 97 |
| GO:001605511 | Liver | Cirrhotic | Wnt signaling pathway | 150/4634 | 444/18723 | 9.75e-06 | 1.42e-04 | 150 |
| GO:019873811 | Liver | Cirrhotic | cell-cell signaling by wnt | 150/4634 | 446/18723 | 1.28e-05 | 1.80e-04 | 150 |
| GO:003011111 | Liver | Cirrhotic | regulation of Wnt signaling pathway | 112/4634 | 328/18723 | 7.57e-05 | 8.40e-04 | 112 |
| GO:019873821 | Liver | HCC | cell-cell signaling by wnt | 247/7958 | 446/18723 | 2.11e-08 | 4.96e-07 | 247 |
| GO:001605521 | Liver | HCC | Wnt signaling pathway | 245/7958 | 444/18723 | 3.68e-08 | 8.09e-07 | 245 |
| GO:003011121 | Liver | HCC | regulation of Wnt signaling pathway | 180/7958 | 328/18723 | 3.62e-06 | 4.72e-05 | 180 |
| GO:005165610 | Oral cavity | OSCC | establishment of organelle localization | 239/7305 | 390/18723 | 2.46e-19 | 3.31e-17 | 239 |
| GO:001605510 | Oral cavity | OSCC | Wnt signaling pathway | 227/7305 | 444/18723 | 1.10e-07 | 1.87e-06 | 227 |
| GO:019873810 | Oral cavity | OSCC | cell-cell signaling by wnt | 227/7305 | 446/18723 | 1.75e-07 | 2.86e-06 | 227 |
| GO:003011110 | Oral cavity | OSCC | regulation of Wnt signaling pathway | 165/7305 | 328/18723 | 1.87e-05 | 1.80e-04 | 165 |
| GO:00024441 | Oral cavity | OSCC | myeloid leukocyte mediated immunity | 50/7305 | 99/18723 | 1.31e-02 | 4.34e-02 | 50 |
| GO:001605515 | Oral cavity | LP | Wnt signaling pathway | 140/4623 | 444/18723 | 5.80e-04 | 5.35e-03 | 140 |
| GO:019873815 | Oral cavity | LP | cell-cell signaling by wnt | 140/4623 | 446/18723 | 7.12e-04 | 6.38e-03 | 140 |
| GO:003011115 | Oral cavity | LP | regulation of Wnt signaling pathway | 103/4623 | 328/18723 | 3.29e-03 | 2.21e-02 | 103 |
| GO:0016055110 | Thyroid | PTC | Wnt signaling pathway | 217/5968 | 444/18723 | 3.71e-14 | 2.30e-12 | 217 |
| GO:0198738110 | Thyroid | PTC | cell-cell signaling by wnt | 217/5968 | 446/18723 | 6.68e-14 | 3.73e-12 | 217 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| Page: 1 |
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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 |
| Page: 1 |
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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. |
| Page: 1 |
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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 |
| C12orf4 | SNV | Missense_Mutation | c.1382N>T | p.Cys461Phe | p.C461F | Q9NQ89 | protein_coding | tolerated(0.23) | probably_damaging(0.915) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD | |
| C12orf4 | SNV | Missense_Mutation | rs146419518 | c.1622N>A | p.Arg541Gln | p.R541Q | Q9NQ89 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-E9-A249-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
| C12orf4 | SNV | Missense_Mutation | rs752707533 | c.725N>C | p.Leu242Pro | p.L242P | Q9NQ89 | protein_coding | deleterious(0.01) | benign(0.099) | TCGA-EA-A410-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
| C12orf4 | SNV | Missense_Mutation | rs532268400 | c.1004G>A | p.Arg335Gln | p.R335Q | Q9NQ89 | protein_coding | deleterious(0.01) | probably_damaging(0.954) | TCGA-FU-A3HZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| C12orf4 | SNV | Missense_Mutation | novel | c.413C>G | p.Ser138Cys | p.S138C | Q9NQ89 | protein_coding | deleterious(0.04) | possibly_damaging(0.815) | TCGA-VS-A8EI-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| C12orf4 | insertion | In_Frame_Ins | novel | c.1135_1136insAGC | p.Gln378dup | p.Q378dup | Q9NQ89 | protein_coding | TCGA-C5-A2LZ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Unknown | Unknown | PD | ||
| C12orf4 | insertion | Frame_Shift_Ins | novel | c.1333_1334insAC | p.Ala445AspfsTer25 | p.A445Dfs*25 | Q9NQ89 | protein_coding | TCGA-DS-A1OD-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD | ||
| C12orf4 | insertion | Frame_Shift_Ins | novel | c.619_620insTAAACATTACTAAC | p.Lys207IlefsTer11 | p.K207Ifs*11 | Q9NQ89 | protein_coding | TCGA-DS-A1OD-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD | ||
| C12orf4 | SNV | Missense_Mutation | rs774878836 | c.136N>T | p.Arg46Cys | p.R46C | Q9NQ89 | protein_coding | deleterious(0.04) | probably_damaging(0.998) | TCGA-AA-3506-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
| C12orf4 | SNV | Missense_Mutation | c.871N>A | p.Leu291Met | p.L291M | Q9NQ89 | protein_coding | tolerated(0.31) | benign(0.015) | TCGA-AA-3864-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
| Page: 1 2 3 4 5 6 7 8 |
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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 |
| Page: 1 |
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