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Gene: ISM1 |
Gene summary for ISM1 |
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Gene information | Species | Human | Gene symbol | ISM1 | Gene ID | 140862 |
Gene name | isthmin 1 | |
Gene Alias | C20orf82 | |
Cytomap | 20p12.1 | |
Gene Type | protein-coding | GO ID | GO:0001525 | UniProtAcc | B1AKI9 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
140862 | ISM1 | male-WTA | Human | Thyroid | PTC | 6.17e-06 | -4.95e-02 | 0.1037 |
140862 | ISM1 | PTC06 | Human | Thyroid | PTC | 8.89e-04 | 2.27e-01 | 0.2057 |
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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 |
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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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 |
ISM1 | SNV | Missense_Mutation | novel | c.1175N>G | p.Gln392Arg | p.Q392R | B1AKI9 | protein_coding | tolerated(1) | benign(0.033) | TCGA-A2-A04Y-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
ISM1 | SNV | Missense_Mutation | novel | c.1126N>A | p.Glu376Lys | p.E376K | B1AKI9 | protein_coding | deleterious(0.01) | probably_damaging(0.996) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
ISM1 | SNV | Missense_Mutation | c.265N>A | p.Glu89Lys | p.E89K | B1AKI9 | protein_coding | tolerated(0.24) | benign(0.156) | TCGA-D8-A142-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cyclophosphamid | SD | |
ISM1 | insertion | Frame_Shift_Ins | novel | c.1177_1178insTTTGTTCAGGTGTATTTATTTTT | p.Ile394CysfsTer110 | p.I394Cfs*110 | B1AKI9 | protein_coding | TCGA-A2-A04Y-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD | ||
ISM1 | insertion | Frame_Shift_Ins | novel | c.610_611insAGTACATCTT | p.Arg204GlnfsTer7 | p.R204Qfs*7 | B1AKI9 | protein_coding | TCGA-BH-A0B1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | adriamycin | SD | ||
ISM1 | insertion | Frame_Shift_Ins | novel | c.612_613insGTTGATT | p.Thr205ValfsTer5 | p.T205Vfs*5 | B1AKI9 | protein_coding | TCGA-BH-A0B1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | adriamycin | SD | ||
ISM1 | insertion | Nonsense_Mutation | novel | c.498_499insGCGGGATGACTTGTCTTATACCATTTGCATGCTAACCTTAA | p.Ser167AlafsTer3 | p.S167Afs*3 | B1AKI9 | protein_coding | TCGA-BH-A1FH-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD | ||
ISM1 | SNV | Missense_Mutation | c.1015N>A | p.Asp339Asn | p.D339N | B1AKI9 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AA-3977-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
ISM1 | SNV | Missense_Mutation | c.568C>A | p.Leu190Ile | p.L190I | B1AKI9 | protein_coding | tolerated(0.14) | probably_damaging(0.991) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR | |
ISM1 | SNV | Missense_Mutation | novel | c.297N>A | p.Phe99Leu | p.F99L | B1AKI9 | protein_coding | tolerated(0.19) | benign(0.007) | TCGA-CA-5796-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | oxaliplatin | CR |
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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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