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Gene: ATXN7L3 |
Gene summary for ATXN7L3 |
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Gene information | Species | Human | Gene symbol | ATXN7L3 | Gene ID | 56970 |
Gene name | ataxin 7 like 3 | |
Gene Alias | SGF11 | |
Cytomap | 17q21.31 | |
Gene Type | protein-coding | GO ID | GO:0006139 | UniProtAcc | NA |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
56970 | ATXN7L3 | HCC1_Meng | Human | Liver | HCC | 4.08e-15 | 5.19e-03 | 0.0246 |
56970 | ATXN7L3 | HCC2_Meng | Human | Liver | HCC | 2.11e-02 | 5.21e-02 | 0.0107 |
56970 | ATXN7L3 | HCC1 | Human | Liver | HCC | 1.07e-02 | 2.32e+00 | 0.5336 |
56970 | ATXN7L3 | HCC2 | Human | Liver | HCC | 7.01e-16 | 3.65e+00 | 0.5341 |
56970 | ATXN7L3 | S014 | Human | Liver | HCC | 1.04e-14 | 4.11e-01 | 0.2254 |
56970 | ATXN7L3 | S015 | Human | Liver | HCC | 2.98e-22 | 7.58e-01 | 0.2375 |
56970 | ATXN7L3 | S016 | Human | Liver | HCC | 8.03e-17 | 4.62e-01 | 0.2243 |
56970 | ATXN7L3 | S027 | Human | Liver | HCC | 2.84e-03 | 3.61e-01 | 0.2446 |
56970 | ATXN7L3 | S028 | Human | Liver | HCC | 1.71e-08 | 3.28e-01 | 0.2503 |
56970 | ATXN7L3 | S029 | Human | Liver | HCC | 2.08e-08 | 3.60e-01 | 0.2581 |
56970 | ATXN7L3 | C04 | Human | Oral cavity | OSCC | 8.21e-07 | 3.75e-01 | 0.2633 |
56970 | ATXN7L3 | C21 | Human | Oral cavity | OSCC | 6.13e-18 | 3.84e-01 | 0.2678 |
56970 | ATXN7L3 | C30 | Human | Oral cavity | OSCC | 3.31e-35 | 1.29e+00 | 0.3055 |
56970 | ATXN7L3 | C38 | Human | Oral cavity | OSCC | 1.51e-02 | 3.16e-01 | 0.172 |
56970 | ATXN7L3 | C51 | Human | Oral cavity | OSCC | 8.19e-10 | 3.18e-01 | 0.2674 |
56970 | ATXN7L3 | C57 | Human | Oral cavity | OSCC | 1.61e-04 | 1.72e-01 | 0.1679 |
56970 | ATXN7L3 | C06 | Human | Oral cavity | OSCC | 3.66e-02 | 3.12e-01 | 0.2699 |
56970 | ATXN7L3 | C08 | Human | Oral cavity | OSCC | 2.83e-08 | 1.67e-01 | 0.1919 |
56970 | ATXN7L3 | C09 | Human | Oral cavity | OSCC | 1.65e-03 | 1.55e-01 | 0.1431 |
56970 | ATXN7L3 | LN38 | Human | Oral cavity | OSCC | 2.57e-03 | 5.17e-01 | 0.168 |
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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:001657021 | Liver | HCC | histone modification | 283/7958 | 463/18723 | 2.68e-16 | 2.33e-14 | 283 |
GO:00165742 | Liver | HCC | histone ubiquitination | 37/7958 | 47/18723 | 4.37e-07 | 7.23e-06 | 37 |
GO:0010390 | Liver | HCC | histone monoubiquitination | 23/7958 | 29/18723 | 5.86e-05 | 5.38e-04 | 23 |
GO:00706461 | Liver | HCC | protein modification by small protein removal | 91/7958 | 157/18723 | 6.50e-05 | 5.92e-04 | 91 |
GO:000651311 | Liver | HCC | protein monoubiquitination | 44/7958 | 67/18723 | 1.08e-04 | 9.22e-04 | 44 |
GO:00165791 | Liver | HCC | protein deubiquitination | 78/7958 | 139/18723 | 8.13e-04 | 4.87e-03 | 78 |
GO:0016578 | Liver | HCC | histone deubiquitination | 17/7958 | 23/18723 | 2.28e-03 | 1.13e-02 | 17 |
GO:00165707 | Oral cavity | OSCC | histone modification | 270/7305 | 463/18723 | 1.59e-17 | 1.50e-15 | 270 |
GO:00165746 | Oral cavity | OSCC | histone ubiquitination | 38/7305 | 47/18723 | 5.22e-09 | 1.14e-07 | 38 |
GO:00065135 | Oral cavity | OSCC | protein monoubiquitination | 47/7305 | 67/18723 | 2.32e-07 | 3.68e-06 | 47 |
GO:00103903 | Oral cavity | OSCC | histone monoubiquitination | 24/7305 | 29/18723 | 1.74e-06 | 2.26e-05 | 24 |
GO:00706462 | Oral cavity | OSCC | protein modification by small protein removal | 77/7305 | 157/18723 | 6.55e-03 | 2.43e-02 | 77 |
GO:00165782 | Oral cavity | OSCC | histone deubiquitination | 15/7305 | 23/18723 | 9.84e-03 | 3.46e-02 | 15 |
GO:001657014 | Oral cavity | LP | histone modification | 152/4623 | 463/18723 | 4.04e-05 | 5.90e-04 | 152 |
GO:000651313 | Oral cavity | LP | protein monoubiquitination | 29/4623 | 67/18723 | 6.51e-04 | 5.90e-03 | 29 |
GO:001657413 | Oral cavity | LP | histone ubiquitination | 22/4623 | 47/18723 | 8.02e-04 | 7.05e-03 | 22 |
GO:00103901 | Oral cavity | LP | histone monoubiquitination | 15/4623 | 29/18723 | 1.55e-03 | 1.20e-02 | 15 |
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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 |
ATXN7L3 | SNV | Missense_Mutation | c.472N>A | p.Asp158Asn | p.D158N | Q14CW9 | protein_coding | tolerated(0.08) | benign(0.172) | TCGA-AG-A00C-01 | Colorectum | rectum adenocarcinoma | Female | <65 | III/IV | Chemotherapy | 5-fluorouracil | CR | |
ATXN7L3 | SNV | Missense_Mutation | c.509N>T | p.Ser170Phe | p.S170F | Q14CW9 | protein_coding | deleterious(0.01) | possibly_damaging(0.702) | TCGA-F5-6814-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
ATXN7L3 | insertion | Frame_Shift_Ins | novel | c.261_262insC | p.Asn88GlnfsTer36 | p.N88Qfs*36 | Q14CW9 | protein_coding | TCGA-AZ-6598-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
ATXN7L3 | insertion | Frame_Shift_Ins | novel | c.542dupA | p.Asn181LysfsTer5 | p.N181Kfs*5 | Q14CW9 | protein_coding | TCGA-CM-5861-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | PD | ||
ATXN7L3 | SNV | Missense_Mutation | novel | c.755N>T | p.Ser252Leu | p.S252L | Q14CW9 | protein_coding | deleterious(0.01) | probably_damaging(0.979) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
ATXN7L3 | SNV | Missense_Mutation | novel | c.521N>T | p.Ser174Phe | p.S174F | Q14CW9 | protein_coding | deleterious(0.04) | probably_damaging(0.994) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
ATXN7L3 | SNV | Missense_Mutation | novel | c.137N>A | p.Gly46Asp | p.G46D | Q14CW9 | protein_coding | deleterious(0) | benign(0.352) | TCGA-AJ-A3BH-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
ATXN7L3 | SNV | Missense_Mutation | c.695G>A | p.Arg232His | p.R232H | Q14CW9 | protein_coding | deleterious(0.05) | benign(0.073) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD | |
ATXN7L3 | SNV | Missense_Mutation | novel | c.155N>G | p.Asp52Gly | p.D52G | Q14CW9 | protein_coding | tolerated(0.1) | benign(0.27) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ATXN7L3 | SNV | Missense_Mutation | c.566N>A | p.Pro189His | p.P189H | Q14CW9 | protein_coding | tolerated(0.1) | benign(0.281) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
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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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