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Gene: CCHCR1 |
Gene summary for CCHCR1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | CCHCR1 | Gene ID | 54535 |
| Gene name | coiled-coil alpha-helical rod protein 1 | |
| Gene Alias | C6orf18 | |
| Cytomap | 6p21.33 | |
| Gene Type | protein-coding | GO ID | GO:0006611 | UniProtAcc | A0A1U9X7G6 |
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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 |
| 54535 | CCHCR1 | LZE7T | Human | Esophagus | ESCC | 2.68e-06 | 2.99e-01 | 0.0667 |
| 54535 | CCHCR1 | LZE8T | Human | Esophagus | ESCC | 7.67e-03 | 9.26e-02 | 0.067 |
| 54535 | CCHCR1 | LZE20T | Human | Esophagus | ESCC | 1.03e-02 | 1.13e-01 | 0.0662 |
| 54535 | CCHCR1 | LZE22T | Human | Esophagus | ESCC | 5.39e-03 | 2.00e-01 | 0.068 |
| 54535 | CCHCR1 | LZE24T | Human | Esophagus | ESCC | 4.87e-08 | 2.01e-01 | 0.0596 |
| 54535 | CCHCR1 | LZE6T | Human | Esophagus | ESCC | 2.69e-02 | 1.68e-01 | 0.0845 |
| 54535 | CCHCR1 | P2T-E | Human | Esophagus | ESCC | 1.06e-21 | 3.69e-01 | 0.1177 |
| 54535 | CCHCR1 | P4T-E | Human | Esophagus | ESCC | 1.87e-14 | 2.82e-01 | 0.1323 |
| 54535 | CCHCR1 | P5T-E | Human | Esophagus | ESCC | 4.84e-05 | 6.50e-02 | 0.1327 |
| 54535 | CCHCR1 | P8T-E | Human | Esophagus | ESCC | 1.36e-06 | 8.79e-02 | 0.0889 |
| 54535 | CCHCR1 | P9T-E | Human | Esophagus | ESCC | 4.02e-04 | 8.37e-02 | 0.1131 |
| 54535 | CCHCR1 | P10T-E | Human | Esophagus | ESCC | 4.13e-10 | 1.04e-01 | 0.116 |
| 54535 | CCHCR1 | P11T-E | Human | Esophagus | ESCC | 2.62e-02 | 1.85e-01 | 0.1426 |
| 54535 | CCHCR1 | P12T-E | Human | Esophagus | ESCC | 1.36e-18 | 2.02e-01 | 0.1122 |
| 54535 | CCHCR1 | P15T-E | Human | Esophagus | ESCC | 2.73e-03 | 1.06e-01 | 0.1149 |
| 54535 | CCHCR1 | P16T-E | Human | Esophagus | ESCC | 2.41e-15 | 1.97e-01 | 0.1153 |
| 54535 | CCHCR1 | P17T-E | Human | Esophagus | ESCC | 3.66e-03 | 2.33e-01 | 0.1278 |
| 54535 | CCHCR1 | P20T-E | Human | Esophagus | ESCC | 3.58e-09 | 1.75e-01 | 0.1124 |
| 54535 | CCHCR1 | P21T-E | Human | Esophagus | ESCC | 4.44e-11 | 1.41e-01 | 0.1617 |
| 54535 | CCHCR1 | P22T-E | Human | Esophagus | ESCC | 6.71e-10 | 1.90e-01 | 0.1236 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias |
| ∗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:0006913110 | Esophagus | ESCC | nucleocytoplasmic transport | 230/8552 | 301/18723 | 6.04e-28 | 2.02e-25 | 230 |
| GO:0051169110 | Esophagus | ESCC | nuclear transport | 230/8552 | 301/18723 | 6.04e-28 | 2.02e-25 | 230 |
| GO:0051168110 | Esophagus | ESCC | nuclear export | 126/8552 | 154/18723 | 1.88e-20 | 2.65e-18 | 126 |
| GO:000661117 | Esophagus | ESCC | protein export from nucleus | 48/8552 | 57/18723 | 1.92e-09 | 4.39e-08 | 48 |
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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 |
| CCHCR1 | SNV | Missense_Mutation | novel | c.2373N>C | p.Leu791Phe | p.L791F | Q8TD31 | protein_coding | tolerated(0.12) | benign(0.015) | TCGA-AC-A5XS-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | femara | SD |
| CCHCR1 | SNV | Missense_Mutation | c.1331A>G | p.His444Arg | p.H444R | Q8TD31 | protein_coding | tolerated(0.07) | possibly_damaging(0.698) | TCGA-B6-A0RE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| CCHCR1 | insertion | Frame_Shift_Ins | novel | c.2491_2491+1insATGTGGCCAAGTTTGGATTTTACTGTAAGTC | p.Gly831AspfsTer19 | p.G831Dfs*19 | Q8TD31 | protein_coding | TCGA-A2-A0CX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD | ||
| CCHCR1 | insertion | Nonsense_Mutation | novel | c.239_240insATGAGTACGTTCTG | p.Asn81Ter | p.N81* | Q8TD31 | protein_coding | TCGA-A7-A0CE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD | ||
| CCHCR1 | insertion | Frame_Shift_Ins | novel | c.239_240insTGAGTACGTTCTG | p.Gln80HisfsTer12 | p.Q80Hfs*12 | Q8TD31 | protein_coding | TCGA-A8-A07F-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD | ||
| CCHCR1 | insertion | Frame_Shift_Ins | novel | c.239_240insAAATGAGTACGTTCTG | p.Leu82GlufsTer11 | p.L82Efs*11 | Q8TD31 | protein_coding | TCGA-A8-A094-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
| CCHCR1 | insertion | Nonsense_Mutation | novel | c.239_240insAAAATGAGTACGTTCTG | p.Asn81LysfsTer2 | p.N81Kfs*2 | Q8TD31 | protein_coding | TCGA-A8-A096-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
| CCHCR1 | insertion | Frame_Shift_Ins | novel | c.289_290insGCTGGGACTACAGGCACCTGCCACCACGCCCAGCTAG | p.Thr97SerfsTer73 | p.T97Sfs*73 | Q8TD31 | protein_coding | TCGA-A8-A09K-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
| CCHCR1 | SNV | Missense_Mutation | novel | c.1507G>A | p.Ala503Thr | p.A503T | Q8TD31 | protein_coding | tolerated(0.06) | probably_damaging(0.935) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| CCHCR1 | SNV | Missense_Mutation | rs746784384 | c.136C>T | p.Arg46Cys | p.R46C | Q8TD31 | protein_coding | deleterious_low_confidence(0.02) | benign(0) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
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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 |
| 54535 | CCHCR1 | NA | nevirapine | NEVIRAPINE | 21810746 |
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