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Gene: HTT |
Gene summary for HTT |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | HTT | Gene ID | 3064 |
| Gene name | huntingtin | |
| Gene Alias | HD | |
| Cytomap | 4p16.3 | |
| Gene Type | protein-coding | GO ID | GO:0000132 | UniProtAcc | P42858 |
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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 |
| 3064 | HTT | LZE7T | Human | Esophagus | ESCC | 3.73e-09 | 3.57e-01 | 0.0667 |
| 3064 | HTT | LZE8T | Human | Esophagus | ESCC | 3.31e-02 | 4.78e-02 | 0.067 |
| 3064 | HTT | LZE20T | Human | Esophagus | ESCC | 2.39e-07 | 1.87e-01 | 0.0662 |
| 3064 | HTT | LZE22T | Human | Esophagus | ESCC | 1.72e-02 | 1.49e-01 | 0.068 |
| 3064 | HTT | LZE24T | Human | Esophagus | ESCC | 1.72e-04 | 1.04e-01 | 0.0596 |
| 3064 | HTT | LZE21T | Human | Esophagus | ESCC | 3.01e-03 | 1.80e-01 | 0.0655 |
| 3064 | HTT | P1T-E | Human | Esophagus | ESCC | 1.49e-02 | 1.30e-01 | 0.0875 |
| 3064 | HTT | P2T-E | Human | Esophagus | ESCC | 3.66e-22 | 3.86e-01 | 0.1177 |
| 3064 | HTT | P4T-E | Human | Esophagus | ESCC | 5.81e-10 | 1.49e-01 | 0.1323 |
| 3064 | HTT | P5T-E | Human | Esophagus | ESCC | 7.74e-06 | 3.34e-02 | 0.1327 |
| 3064 | HTT | P8T-E | Human | Esophagus | ESCC | 9.31e-18 | 2.46e-01 | 0.0889 |
| 3064 | HTT | P9T-E | Human | Esophagus | ESCC | 3.09e-09 | 1.41e-01 | 0.1131 |
| 3064 | HTT | P10T-E | Human | Esophagus | ESCC | 2.76e-06 | 1.09e-01 | 0.116 |
| 3064 | HTT | P11T-E | Human | Esophagus | ESCC | 2.27e-04 | 1.92e-01 | 0.1426 |
| 3064 | HTT | P12T-E | Human | Esophagus | ESCC | 1.60e-14 | 1.35e-01 | 0.1122 |
| 3064 | HTT | P15T-E | Human | Esophagus | ESCC | 3.77e-07 | 6.69e-02 | 0.1149 |
| 3064 | HTT | P16T-E | Human | Esophagus | ESCC | 2.43e-08 | 1.38e-01 | 0.1153 |
| 3064 | HTT | P17T-E | Human | Esophagus | ESCC | 3.01e-08 | 2.41e-01 | 0.1278 |
| 3064 | HTT | P19T-E | Human | Esophagus | ESCC | 8.63e-06 | 3.02e-01 | 0.1662 |
| 3064 | HTT | P20T-E | Human | Esophagus | ESCC | 1.23e-04 | 6.66e-02 | 0.1124 |
| Page: 1 2 3 4 5 6 |
| 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 | ||
| 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 | ||
| 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 |
| 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:00162393 | Oral cavity | OSCC | positive regulation of macroautophagy | 40/7305 | 63/18723 | 7.19e-05 | 5.67e-04 | 40 |
| GO:012003216 | Oral cavity | OSCC | regulation of plasma membrane bounded cell projection assembly | 98/7305 | 186/18723 | 1.00e-04 | 7.54e-04 | 98 |
| GO:19021173 | Oral cavity | OSCC | positive regulation of organelle assembly | 41/7305 | 67/18723 | 1.94e-04 | 1.30e-03 | 41 |
| GO:00991113 | Oral cavity | OSCC | microtubule-based transport | 96/7305 | 190/18723 | 7.92e-04 | 4.27e-03 | 96 |
| GO:004366617 | Oral cavity | OSCC | regulation of phosphoprotein phosphatase activity | 35/7305 | 58/18723 | 8.06e-04 | 4.32e-03 | 35 |
| GO:00316485 | Oral cavity | OSCC | protein destabilization | 29/7305 | 46/18723 | 8.26e-04 | 4.38e-03 | 29 |
| GO:00995184 | Oral cavity | OSCC | vesicle cytoskeletal trafficking | 41/7305 | 73/18723 | 2.18e-03 | 9.95e-03 | 41 |
| GO:001092110 | Oral cavity | OSCC | regulation of phosphatase activity | 46/7305 | 84/18723 | 2.43e-03 | 1.07e-02 | 46 |
| GO:01200346 | Oral cavity | OSCC | positive regulation of plasma membrane bounded cell projection assembly | 55/7305 | 105/18723 | 3.64e-03 | 1.51e-02 | 55 |
| GO:00474961 | Oral cavity | OSCC | vesicle transport along microtubule | 27/7305 | 47/18723 | 7.93e-03 | 2.90e-02 | 27 |
| GO:0051294 | Oral cavity | OSCC | establishment of spindle orientation | 22/7305 | 37/18723 | 9.34e-03 | 3.34e-02 | 22 |
| GO:00516532 | Oral cavity | OSCC | spindle localization | 31/7305 | 56/18723 | 9.53e-03 | 3.39e-02 | 31 |
| GO:0040001 | Oral cavity | OSCC | establishment of mitotic spindle localization | 21/7305 | 35/18723 | 9.58e-03 | 3.40e-02 | 21 |
| GO:19035998 | Oral cavity | OSCC | positive regulation of autophagy of mitochondrion | 9/7305 | 12/18723 | 1.27e-02 | 4.24e-02 | 9 |
| GO:200123326 | Oral cavity | EOLP | regulation of apoptotic signaling pathway | 99/2218 | 356/18723 | 1.25e-16 | 1.25e-13 | 99 |
| GO:000989625 | Oral cavity | EOLP | positive regulation of catabolic process | 118/2218 | 492/18723 | 2.32e-14 | 9.26e-12 | 118 |
| GO:003133125 | Oral cavity | EOLP | positive regulation of cellular catabolic process | 106/2218 | 427/18723 | 4.63e-14 | 1.63e-11 | 106 |
| GO:000647023 | Oral cavity | EOLP | protein dephosphorylation | 72/2218 | 281/18723 | 1.19e-10 | 1.35e-08 | 72 |
| GO:003164726 | Oral cavity | EOLP | regulation of protein stability | 75/2218 | 298/18723 | 1.22e-10 | 1.35e-08 | 75 |
| GO:200123426 | Oral cavity | EOLP | negative regulation of apoptotic signaling pathway | 61/2218 | 224/18723 | 2.28e-10 | 2.20e-08 | 61 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa05016210 | Esophagus | ESCC | Huntington disease | 226/4205 | 306/8465 | 1.38e-18 | 8.72e-17 | 4.46e-17 | 226 |
| hsa05022210 | Esophagus | ESCC | Pathways of neurodegeneration - multiple diseases | 318/4205 | 476/8465 | 6.10e-15 | 2.04e-13 | 1.05e-13 | 318 |
| hsa0501638 | Esophagus | ESCC | Huntington disease | 226/4205 | 306/8465 | 1.38e-18 | 8.72e-17 | 4.46e-17 | 226 |
| hsa0502238 | Esophagus | ESCC | Pathways of neurodegeneration - multiple diseases | 318/4205 | 476/8465 | 6.10e-15 | 2.04e-13 | 1.05e-13 | 318 |
| hsa0501622 | Liver | HCC | Huntington disease | 219/4020 | 306/8465 | 3.06e-18 | 3.42e-16 | 1.90e-16 | 219 |
| hsa0502222 | Liver | HCC | Pathways of neurodegeneration - multiple diseases | 298/4020 | 476/8465 | 6.59e-12 | 1.30e-10 | 7.22e-11 | 298 |
| hsa0501632 | Liver | HCC | Huntington disease | 219/4020 | 306/8465 | 3.06e-18 | 3.42e-16 | 1.90e-16 | 219 |
| hsa0502232 | Liver | HCC | Pathways of neurodegeneration - multiple diseases | 298/4020 | 476/8465 | 6.59e-12 | 1.30e-10 | 7.22e-11 | 298 |
| hsa0501628 | Oral cavity | OSCC | Huntington disease | 204/3704 | 306/8465 | 1.70e-16 | 7.13e-15 | 3.63e-15 | 204 |
| hsa0502228 | Oral cavity | OSCC | Pathways of neurodegeneration - multiple diseases | 292/3704 | 476/8465 | 1.60e-15 | 4.47e-14 | 2.28e-14 | 292 |
| hsa05016112 | Oral cavity | OSCC | Huntington disease | 204/3704 | 306/8465 | 1.70e-16 | 7.13e-15 | 3.63e-15 | 204 |
| hsa05022112 | Oral cavity | OSCC | Pathways of neurodegeneration - multiple diseases | 292/3704 | 476/8465 | 1.60e-15 | 4.47e-14 | 2.28e-14 | 292 |
| hsa0502245 | Oral cavity | EOLP | Pathways of neurodegeneration - multiple diseases | 110/1218 | 476/8465 | 1.09e-07 | 1.26e-06 | 7.40e-07 | 110 |
| hsa0501645 | Oral cavity | EOLP | Huntington disease | 69/1218 | 306/8465 | 6.32e-05 | 2.96e-04 | 1.75e-04 | 69 |
| hsa0502255 | Oral cavity | EOLP | Pathways of neurodegeneration - multiple diseases | 110/1218 | 476/8465 | 1.09e-07 | 1.26e-06 | 7.40e-07 | 110 |
| hsa0501655 | Oral cavity | EOLP | Huntington disease | 69/1218 | 306/8465 | 6.32e-05 | 2.96e-04 | 1.75e-04 | 69 |
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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 |
| HTT | SNV | Missense_Mutation | novel | c.6190N>G | p.Leu2064Val | p.L2064V | P42858 | protein_coding | tolerated(0.12) | benign(0.058) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
| HTT | SNV | Missense_Mutation | c.7393N>A | p.Glu2465Lys | p.E2465K | P42858 | protein_coding | deleterious(0) | probably_damaging(0.987) | TCGA-A2-A04W-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD | |
| HTT | SNV | Missense_Mutation | rs776464028 | c.4827N>C | p.Gln1609His | p.Q1609H | P42858 | protein_coding | deleterious(0) | possibly_damaging(0.781) | TCGA-A2-A0EY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
| HTT | SNV | Missense_Mutation | novel | c.5353C>A | p.His1785Asn | p.H1785N | P42858 | protein_coding | deleterious(0) | probably_damaging(0.977) | TCGA-A7-A6VY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | CR |
| HTT | SNV | Missense_Mutation | c.2023N>A | p.Asp675Asn | p.D675N | P42858 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
| HTT | SNV | Missense_Mutation | c.6970N>A | p.Glu2324Lys | p.E2324K | P42858 | protein_coding | deleterious(0.03) | benign(0.003) | TCGA-AC-A2B8-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | chemo | PD | |
| HTT | SNV | Missense_Mutation | novel | c.5213N>C | p.Glu1738Ala | p.E1738A | P42858 | protein_coding | deleterious(0.01) | benign(0.226) | TCGA-AC-A62V-01 | Breast | breast invasive carcinoma | Male | <65 | III/IV | Targeted Molecular therapy | denosumab | PD |
| HTT | SNV | Missense_Mutation | novel | c.5776N>C | p.Asp1926His | p.D1926H | P42858 | protein_coding | deleterious(0) | probably_damaging(0.947) | TCGA-AO-A0JC-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | fluorouracil | SD |
| HTT | SNV | Missense_Mutation | rs758872041 | c.5263N>G | p.Ile1755Val | p.I1755V | P42858 | protein_coding | tolerated(0.09) | probably_damaging(0.919) | TCGA-C8-A132-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| HTT | SNV | Missense_Mutation | rs41264725 | c.3205N>G | p.Met1069Val | p.M1069V | P42858 | protein_coding | tolerated(0.33) | benign(0) | TCGA-C8-A8HP-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | 5-fluorouracil | CR |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 |
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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 |
| 3064 | HTT | DRUGGABLE GENOME | CUDC-907 | FIMEPINOSTAT | ||
| 3064 | HTT | DRUGGABLE GENOME | GNF-PF-4659 | CHEMBL584442 | ||
| 3064 | HTT | DRUGGABLE GENOME | PMID27376512-Compound-PG-11047 | |||
| 3064 | HTT | DRUGGABLE GENOME | GNF-PF-1852 | CHEMBL533293 | ||
| 3064 | HTT | DRUGGABLE GENOME | GNF-PF-67 | CHEMBL578512 | ||
| 3064 | HTT | DRUGGABLE GENOME | GNF-PF-2947 | CHEMBL581677 | ||
| 3064 | HTT | DRUGGABLE GENOME | GNF-PF-2356 | CHEMBL601547 | ||
| 3064 | HTT | DRUGGABLE GENOME | CID 94381 | CHEMBL374632 | ||
| 3064 | HTT | DRUGGABLE GENOME | FLUORESCEIN DIACETATE | FLUORESCEIN DIACETATE | ||
| 3064 | HTT | DRUGGABLE GENOME | TCMDC-124573 | CHEMBL525826 |
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