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Gene: C17orf75 |
Gene summary for C17ORF75 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | C17orf75 | Gene ID | 64149 |
| Gene name | chromosome 17 open reading frame 75 | |
| Gene Alias | NJMU-R1 | |
| Cytomap | 17q11.2 | |
| Gene Type | protein-coding | GO ID | GO:0006810 | UniProtAcc | Q9HAS0 |
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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 |
| 64149 | C17orf75 | GSM4909293 | Human | Breast | IDC | 1.24e-34 | 5.25e-01 | 0.1581 |
| 64149 | C17orf75 | M2 | Human | Breast | IDC | 1.94e-03 | 5.08e-01 | 0.21 |
| 64149 | C17orf75 | P2 | Human | Breast | IDC | 4.65e-13 | 5.71e-01 | 0.21 |
| 64149 | C17orf75 | DCIS2 | Human | Breast | DCIS | 1.43e-21 | 8.45e-02 | 0.0085 |
| 64149 | C17orf75 | LZE2T | Human | Esophagus | ESCC | 1.62e-05 | 6.55e-01 | 0.082 |
| 64149 | C17orf75 | LZE4T | Human | Esophagus | ESCC | 2.51e-07 | 2.31e-01 | 0.0811 |
| 64149 | C17orf75 | LZE5T | Human | Esophagus | ESCC | 9.33e-04 | 3.49e-01 | 0.0514 |
| 64149 | C17orf75 | LZE7T | Human | Esophagus | ESCC | 3.34e-07 | 3.11e-01 | 0.0667 |
| 64149 | C17orf75 | LZE8T | Human | Esophagus | ESCC | 2.40e-02 | 1.50e-01 | 0.067 |
| 64149 | C17orf75 | LZE24T | Human | Esophagus | ESCC | 3.81e-17 | 4.10e-01 | 0.0596 |
| 64149 | C17orf75 | LZE21T | Human | Esophagus | ESCC | 3.98e-02 | 1.91e-01 | 0.0655 |
| 64149 | C17orf75 | LZE6T | Human | Esophagus | ESCC | 2.51e-09 | 3.00e-01 | 0.0845 |
| 64149 | C17orf75 | P1T-E | Human | Esophagus | ESCC | 3.58e-03 | 2.91e-01 | 0.0875 |
| 64149 | C17orf75 | P2T-E | Human | Esophagus | ESCC | 6.68e-33 | 6.36e-01 | 0.1177 |
| 64149 | C17orf75 | P4T-E | Human | Esophagus | ESCC | 1.72e-20 | 5.30e-01 | 0.1323 |
| 64149 | C17orf75 | P5T-E | Human | Esophagus | ESCC | 1.02e-19 | 2.71e-01 | 0.1327 |
| 64149 | C17orf75 | P8T-E | Human | Esophagus | ESCC | 4.32e-21 | 3.06e-01 | 0.0889 |
| 64149 | C17orf75 | P9T-E | Human | Esophagus | ESCC | 1.78e-10 | 2.57e-01 | 0.1131 |
| 64149 | C17orf75 | P10T-E | Human | Esophagus | ESCC | 2.56e-15 | 1.52e-01 | 0.116 |
| 64149 | C17orf75 | P11T-E | Human | Esophagus | ESCC | 9.82e-07 | 2.40e-01 | 0.1426 |
| Page: 1 2 3 4 5 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Breast |  | IDC: Invasive ductal carcinoma |
| DCIS: Ductal carcinoma in situ | ||
| Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma | ||
| Skin |  | AK: Actinic keratosis |
| cSCC: Cutaneous squamous cell carcinoma | ||
| SCCIS:squamous cell carcinoma in situ |
| ∗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:005165617 | Esophagus | ESCC | establishment of organelle localization | 273/8552 | 390/18723 | 9.13e-23 | 1.81e-20 | 273 |
| GO:005165016 | Esophagus | ESCC | establishment of vesicle localization | 114/8552 | 161/18723 | 8.20e-11 | 2.53e-09 | 114 |
| GO:005164815 | Esophagus | ESCC | vesicle localization | 119/8552 | 177/18723 | 5.16e-09 | 1.08e-07 | 119 |
| GO:00069038 | Esophagus | ESCC | vesicle targeting | 38/8552 | 45/18723 | 8.42e-08 | 1.43e-06 | 38 |
| GO:00990222 | Esophagus | ESCC | vesicle tethering | 10/8552 | 11/18723 | 2.54e-03 | 1.08e-02 | 10 |
| GO:005165611 | Liver | Cirrhotic | establishment of organelle localization | 128/4634 | 390/18723 | 1.78e-04 | 1.67e-03 | 128 |
| GO:00069034 | Liver | Cirrhotic | vesicle targeting | 22/4634 | 45/18723 | 3.90e-04 | 3.23e-03 | 22 |
| GO:005165011 | Liver | Cirrhotic | establishment of vesicle localization | 58/4634 | 161/18723 | 8.98e-04 | 6.44e-03 | 58 |
| GO:005164811 | Liver | Cirrhotic | vesicle localization | 62/4634 | 177/18723 | 1.37e-03 | 9.18e-03 | 62 |
| GO:005165621 | Liver | HCC | establishment of organelle localization | 226/7958 | 390/18723 | 4.15e-10 | 1.34e-08 | 226 |
| GO:005165021 | Liver | HCC | establishment of vesicle localization | 103/7958 | 161/18723 | 2.94e-08 | 6.69e-07 | 103 |
| GO:005164821 | Liver | HCC | vesicle localization | 107/7958 | 177/18723 | 1.05e-06 | 1.57e-05 | 107 |
| GO:000690311 | Liver | HCC | vesicle targeting | 34/7958 | 45/18723 | 6.75e-06 | 8.08e-05 | 34 |
| GO:005165610 | Oral cavity | OSCC | establishment of organelle localization | 239/7305 | 390/18723 | 2.46e-19 | 3.31e-17 | 239 |
| GO:00069037 | Oral cavity | OSCC | vesicle targeting | 38/7305 | 45/18723 | 4.49e-10 | 1.19e-08 | 38 |
| GO:00516509 | Oral cavity | OSCC | establishment of vesicle localization | 101/7305 | 161/18723 | 8.79e-10 | 2.17e-08 | 101 |
| GO:00516489 | Oral cavity | OSCC | vesicle localization | 105/7305 | 177/18723 | 3.30e-08 | 6.30e-07 | 105 |
| GO:0099022 | Oral cavity | OSCC | vesicle tethering | 10/7305 | 11/18723 | 5.78e-04 | 3.30e-03 | 10 |
| GO:005165615 | Oral cavity | LP | establishment of organelle localization | 147/4623 | 390/18723 | 6.01e-09 | 2.46e-07 | 147 |
| GO:000690314 | Oral cavity | LP | vesicle targeting | 27/4623 | 45/18723 | 5.03e-07 | 1.40e-05 | 27 |
| Page: 1 2 |
| 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 |
| C17orf75 | SNV | Missense_Mutation | c.1136N>G | p.Asn379Ser | p.N379S | Q9HAS0 | protein_coding | tolerated(0.42) | benign(0.017) | TCGA-A2-A0ES-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | docetaxel | SD | |
| C17orf75 | SNV | Missense_Mutation | rs753957093 | c.971T>C | p.Leu324Pro | p.L324P | Q9HAS0 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-A8-A090-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| C17orf75 | SNV | Missense_Mutation | c.473N>T | p.Ser158Phe | p.S158F | Q9HAS0 | protein_coding | deleterious(0) | probably_damaging(0.939) | TCGA-B6-A1KN-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | |
| C17orf75 | SNV | Missense_Mutation | rs761593047 | c.406N>T | p.Pro136Ser | p.P136S | Q9HAS0 | protein_coding | tolerated(0.19) | benign(0) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
| C17orf75 | insertion | Frame_Shift_Ins | novel | c.582_583insGATACAACCTTATTCTTCCTGCCTTGTGCAG | p.Leu195AspfsTer16 | p.L195Dfs*16 | Q9HAS0 | protein_coding | TCGA-AN-A0FN-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
| C17orf75 | insertion | In_Frame_Ins | novel | c.257_258insTTTGAGACAGGGTCTTGCTTTGTTGCCCAGGCTGGAGTGCAG | p.Val86_Glu87insLeuArgGlnGlyLeuAlaLeuLeuProArgLeuGluCysArg | p.V86_E87insLRQGLALLPRLECR | Q9HAS0 | protein_coding | TCGA-AO-A0JI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD | ||
| C17orf75 | SNV | Missense_Mutation | novel | c.61N>C | p.Glu21Gln | p.E21Q | Q9HAS0 | protein_coding | tolerated(0.11) | probably_damaging(0.994) | TCGA-C5-A8XK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
| C17orf75 | SNV | Missense_Mutation | c.37N>C | p.Glu13Gln | p.E13Q | Q9HAS0 | protein_coding | deleterious_low_confidence(0.01) | benign(0.26) | TCGA-EK-A2PG-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD | |
| C17orf75 | SNV | Missense_Mutation | c.675N>C | p.Leu225Phe | p.L225F | Q9HAS0 | protein_coding | deleterious(0) | probably_damaging(0.962) | TCGA-LP-A7HU-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
| C17orf75 | SNV | Missense_Mutation | c.469N>T | p.Gly157Trp | p.G157W | Q9HAS0 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-A6-5665-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
| Page: 1 2 3 4 |
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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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