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Gene: HTT |
Gene summary for HTT |
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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 |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
3064 | HTT | EOLP-1 | Human | Oral cavity | EOLP | 1.89e-10 | 2.57e-01 | -0.0202 |
3064 | HTT | SYSMH1 | Human | Oral cavity | OSCC | 4.63e-07 | 1.84e-01 | 0.1127 |
3064 | HTT | SYSMH2 | Human | Oral cavity | OSCC | 2.17e-08 | 3.41e-01 | 0.2326 |
3064 | HTT | SYSMH3 | Human | Oral cavity | OSCC | 2.12e-23 | 4.96e-01 | 0.2442 |
3064 | HTT | SYSMH5 | Human | Oral cavity | OSCC | 9.80e-04 | 2.05e-01 | 0.0647 |
3064 | HTT | HTA12-26-1 | Human | Pancreas | PDAC | 2.13e-14 | 7.65e-01 | 0.3728 |
3064 | HTT | HTA12-29-1 | Human | Pancreas | PDAC | 4.78e-25 | 6.33e-01 | 0.3722 |
3064 | HTT | male-WTA | Human | Thyroid | PTC | 9.88e-15 | 2.04e-01 | 0.1037 |
3064 | HTT | PTC01 | Human | Thyroid | PTC | 3.37e-15 | 2.38e-01 | 0.1899 |
3064 | HTT | PTC03 | Human | Thyroid | PTC | 6.91e-10 | 3.68e-01 | 0.1784 |
3064 | HTT | PTC04 | Human | Thyroid | PTC | 2.10e-28 | 5.74e-01 | 0.1927 |
3064 | HTT | PTC05 | Human | Thyroid | PTC | 5.27e-28 | 8.04e-01 | 0.2065 |
3064 | HTT | PTC06 | Human | Thyroid | PTC | 8.63e-38 | 7.94e-01 | 0.2057 |
3064 | HTT | PTC07 | Human | Thyroid | PTC | 7.34e-32 | 5.51e-01 | 0.2044 |
3064 | HTT | ATC09 | Human | Thyroid | ATC | 9.18e-11 | 3.09e-01 | 0.2871 |
3064 | HTT | ATC11 | Human | Thyroid | ATC | 1.54e-06 | 3.33e-01 | 0.3386 |
3064 | HTT | ATC12 | Human | Thyroid | ATC | 2.81e-13 | 1.90e-01 | 0.34 |
3064 | HTT | ATC13 | Human | Thyroid | ATC | 2.68e-53 | 8.44e-01 | 0.34 |
3064 | HTT | ATC1 | Human | Thyroid | ATC | 1.09e-10 | 3.20e-01 | 0.2878 |
3064 | HTT | ATC2 | Human | Thyroid | ATC | 2.98e-11 | 8.44e-01 | 0.34 |
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∗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 |
GO:004819318 | Esophagus | ESCC | Golgi vesicle transport | 231/8552 | 296/18723 | 1.82e-30 | 9.63e-28 | 231 |
GO:0031647111 | Esophagus | ESCC | regulation of protein stability | 223/8552 | 298/18723 | 5.76e-25 | 1.52e-22 | 223 |
GO:2001233111 | Esophagus | ESCC | regulation of apoptotic signaling pathway | 256/8552 | 356/18723 | 4.11e-24 | 1.04e-21 | 256 |
GO:001623617 | Esophagus | ESCC | macroautophagy | 216/8552 | 291/18723 | 1.94e-23 | 4.57e-21 | 216 |
GO:0022411111 | Esophagus | ESCC | cellular component disassembly | 305/8552 | 443/18723 | 1.94e-23 | 4.57e-21 | 305 |
GO:0009896111 | Esophagus | ESCC | positive regulation of catabolic process | 332/8552 | 492/18723 | 4.36e-23 | 9.22e-21 | 332 |
GO:005165617 | Esophagus | ESCC | establishment of organelle localization | 273/8552 | 390/18723 | 9.13e-23 | 1.81e-20 | 273 |
GO:0031331111 | Esophagus | ESCC | positive regulation of cellular catabolic process | 292/8552 | 427/18723 | 8.67e-22 | 1.53e-19 | 292 |
GO:001050617 | Esophagus | ESCC | regulation of autophagy | 220/8552 | 317/18723 | 6.72e-18 | 6.36e-16 | 220 |
GO:190285015 | Esophagus | ESCC | microtubule cytoskeleton organization involved in mitosis | 116/8552 | 147/18723 | 1.25e-16 | 9.91e-15 | 116 |
GO:0097191111 | Esophagus | ESCC | extrinsic apoptotic signaling pathway | 159/8552 | 219/18723 | 4.12e-16 | 2.94e-14 | 159 |
GO:2001234111 | Esophagus | ESCC | negative regulation of apoptotic signaling pathway | 161/8552 | 224/18723 | 1.24e-15 | 8.09e-14 | 161 |
GO:190300816 | Esophagus | ESCC | organelle disassembly | 89/8552 | 114/18723 | 1.36e-12 | 5.80e-11 | 89 |
GO:0010821110 | Esophagus | ESCC | regulation of mitochondrion organization | 107/8552 | 144/18723 | 2.31e-12 | 9.41e-11 | 107 |
GO:2001236111 | Esophagus | ESCC | regulation of extrinsic apoptotic signaling pathway | 111/8552 | 151/18723 | 2.97e-12 | 1.18e-10 | 111 |
GO:007190016 | Esophagus | ESCC | regulation of protein serine/threonine kinase activity | 227/8552 | 359/18723 | 1.12e-11 | 4.10e-10 | 227 |
GO:005165016 | Esophagus | ESCC | establishment of vesicle localization | 114/8552 | 161/18723 | 8.20e-11 | 2.53e-09 | 114 |
GO:001624114 | Esophagus | ESCC | regulation of macroautophagy | 102/8552 | 141/18723 | 1.09e-10 | 3.27e-09 | 102 |
GO:000689017 | Esophagus | ESCC | retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum | 46/8552 | 52/18723 | 1.23e-10 | 3.66e-09 | 46 |
GO:003070518 | Esophagus | ESCC | cytoskeleton-dependent intracellular transport | 133/8552 | 195/18723 | 1.48e-10 | 4.27e-09 | 133 |
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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 |
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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 |
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 |
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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 |
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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