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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 |
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Transcriptomic changes along malignancy continuum. |
∗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:200123621 | Liver | HCC | regulation of extrinsic apoptotic signaling pathway | 98/7958 | 151/18723 | 2.17e-08 | 5.08e-07 | 98 |
GO:000716322 | Liver | HCC | establishment or maintenance of cell polarity | 133/7958 | 218/18723 | 2.48e-08 | 5.73e-07 | 133 |
GO:005165021 | Liver | HCC | establishment of vesicle localization | 103/7958 | 161/18723 | 2.94e-08 | 6.69e-07 | 103 |
GO:001631121 | Liver | HCC | dephosphorylation | 230/7958 | 417/18723 | 1.00e-07 | 1.96e-06 | 230 |
GO:00070302 | Liver | HCC | Golgi organization | 99/7958 | 157/18723 | 1.54e-07 | 2.85e-06 | 99 |
GO:005123521 | Liver | HCC | maintenance of location | 185/7958 | 327/18723 | 1.70e-07 | 3.12e-06 | 185 |
GO:000647021 | Liver | HCC | protein dephosphorylation | 162/7958 | 281/18723 | 1.91e-07 | 3.46e-06 | 162 |
GO:00105082 | Liver | HCC | positive regulation of autophagy | 81/7958 | 124/18723 | 2.34e-07 | 4.17e-06 | 81 |
GO:190285011 | Liver | HCC | microtubule cytoskeleton organization involved in mitosis | 93/7958 | 147/18723 | 2.91e-07 | 5.09e-06 | 93 |
GO:003530412 | Liver | HCC | regulation of protein dephosphorylation | 62/7958 | 90/18723 | 3.66e-07 | 6.22e-06 | 62 |
GO:190314611 | Liver | HCC | regulation of autophagy of mitochondrion | 28/7958 | 33/18723 | 6.57e-07 | 1.03e-05 | 28 |
GO:006191211 | Liver | HCC | selective autophagy | 49/7958 | 68/18723 | 7.43e-07 | 1.15e-05 | 49 |
GO:005164821 | Liver | HCC | vesicle localization | 107/7958 | 177/18723 | 1.05e-06 | 1.57e-05 | 107 |
GO:003134611 | Liver | HCC | positive regulation of cell projection organization | 193/7958 | 353/18723 | 2.28e-06 | 3.08e-05 | 193 |
GO:19021151 | Liver | HCC | regulation of organelle assembly | 110/7958 | 186/18723 | 3.30e-06 | 4.34e-05 | 110 |
GO:003530312 | Liver | HCC | regulation of dephosphorylation | 80/7958 | 128/18723 | 3.85e-06 | 4.98e-05 | 80 |
GO:00723843 | Liver | HCC | organelle transport along microtubule | 56/7958 | 85/18723 | 1.13e-05 | 1.29e-04 | 56 |
GO:200123712 | Liver | HCC | negative regulation of extrinsic apoptotic signaling pathway | 62/7958 | 97/18723 | 1.67e-05 | 1.81e-04 | 62 |
GO:003070521 | Liver | HCC | cytoskeleton-dependent intracellular transport | 111/7958 | 195/18723 | 3.25e-05 | 3.28e-04 | 111 |
GO:0047496 | Liver | HCC | vesicle transport along microtubule | 34/7958 | 47/18723 | 3.27e-05 | 3.29e-04 | 34 |
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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 |
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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 |
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 |
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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