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Gene: ATXN7L1 |
Gene summary for ATXN7L1 |
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Gene information | Species | Human | Gene symbol | ATXN7L1 | Gene ID | 222255 |
Gene name | ataxin 7 like 1 | |
Gene Alias | ATXN7L4 | |
Cytomap | 7q22.3 | |
Gene Type | protein-coding | GO ID | GO:0003674 | UniProtAcc | Q9BTQ8 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
222255 | ATXN7L1 | A002-C-114 | Human | Colorectum | FAP | 6.34e-26 | -4.86e-01 | -0.1561 |
222255 | ATXN7L1 | A015-C-104 | Human | Colorectum | FAP | 6.89e-35 | -4.84e-01 | -0.1899 |
222255 | ATXN7L1 | A001-C-014 | Human | Colorectum | FAP | 6.78e-16 | -3.32e-01 | 0.0135 |
222255 | ATXN7L1 | A002-C-016 | Human | Colorectum | FAP | 2.49e-22 | -3.36e-01 | 0.0521 |
222255 | ATXN7L1 | A015-C-002 | Human | Colorectum | FAP | 5.67e-16 | -5.09e-01 | -0.0763 |
222255 | ATXN7L1 | A001-C-203 | Human | Colorectum | FAP | 1.22e-08 | -1.64e-01 | -0.0481 |
222255 | ATXN7L1 | A002-C-116 | Human | Colorectum | FAP | 3.52e-40 | -3.97e-01 | -0.0452 |
222255 | ATXN7L1 | A014-C-008 | Human | Colorectum | FAP | 6.50e-18 | -4.83e-01 | -0.191 |
222255 | ATXN7L1 | A018-E-020 | Human | Colorectum | FAP | 3.00e-25 | -5.20e-01 | -0.2034 |
222255 | ATXN7L1 | F034 | Human | Colorectum | FAP | 2.19e-28 | -4.28e-01 | -0.0665 |
222255 | ATXN7L1 | F072B | Human | Colorectum | FAP | 2.41e-10 | 3.05e-01 | 0.257 |
222255 | ATXN7L1 | CRC-3-11773 | Human | Colorectum | CRC | 2.27e-16 | -4.89e-01 | 0.2564 |
222255 | ATXN7L1 | LZE4T | Human | Esophagus | ESCC | 4.74e-02 | 1.14e-01 | 0.0811 |
222255 | ATXN7L1 | LZE20T | Human | Esophagus | ESCC | 3.53e-02 | 1.02e-01 | 0.0662 |
222255 | ATXN7L1 | LZE24T | Human | Esophagus | ESCC | 9.89e-04 | 1.25e-01 | 0.0596 |
222255 | ATXN7L1 | LZE21T | Human | Esophagus | ESCC | 3.24e-05 | 3.04e-01 | 0.0655 |
222255 | ATXN7L1 | P1T-E | Human | Esophagus | ESCC | 2.80e-04 | 1.86e-01 | 0.0875 |
222255 | ATXN7L1 | P2T-E | Human | Esophagus | ESCC | 1.86e-07 | 8.87e-02 | 0.1177 |
222255 | ATXN7L1 | P4T-E | Human | Esophagus | ESCC | 1.03e-09 | 2.11e-01 | 0.1323 |
222255 | ATXN7L1 | P5T-E | Human | Esophagus | ESCC | 3.90e-10 | 1.12e-01 | 0.1327 |
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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 |
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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 |
ATXN7L1 | SNV | Missense_Mutation | c.915N>C | p.Lys305Asn | p.K305N | Q9ULK2 | protein_coding | deleterious(0) | probably_damaging(0.984) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
ATXN7L1 | SNV | Missense_Mutation | rs533762062 | c.692N>T | p.Ser231Leu | p.S231L | Q9ULK2 | protein_coding | tolerated(0.17) | benign(0) | TCGA-AN-A0XU-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ATXN7L1 | SNV | Missense_Mutation | c.1757N>T | p.His586Leu | p.H586L | Q9ULK2 | protein_coding | tolerated(0.57) | benign(0.025) | TCGA-E2-A14T-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | |
ATXN7L1 | insertion | Frame_Shift_Ins | novel | c.111_112insTGCTTGCATAGTTTTTTGGGTACCTATCTGGGCCAGGTAGATGGAA | p.Ser38CysfsTer59 | p.S38Cfs*59 | Q9ULK2 | protein_coding | TCGA-A2-A0D1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | taxotere | SD | ||
ATXN7L1 | deletion | Frame_Shift_Del | c.220delA | p.Ser74AlafsTer5 | p.S74Afs*5 | Q9ULK2 | protein_coding | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD | |||
ATXN7L1 | deletion | Frame_Shift_Del | novel | c.1793delN | p.Phe598SerfsTer83 | p.F598Sfs*83 | Q9ULK2 | protein_coding | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | ||
ATXN7L1 | deletion | Frame_Shift_Del | novel | c.1271delN | p.Pro424HisfsTer29 | p.P424Hfs*29 | Q9ULK2 | protein_coding | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | ||
ATXN7L1 | deletion | Frame_Shift_Del | novel | c.955delN | p.Leu319Ter | p.L319* | Q9ULK2 | protein_coding | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | ||
ATXN7L1 | SNV | Missense_Mutation | c.2326G>A | p.Glu776Lys | p.E776K | Q9ULK2 | protein_coding | tolerated(0.18) | benign(0.202) | TCGA-EK-A2RJ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
ATXN7L1 | SNV | Missense_Mutation | rs367798315 | c.2180C>T | p.Ala727Val | p.A727V | Q9ULK2 | protein_coding | tolerated(0.1) | benign(0) | TCGA-A6-6653-01 | Colorectum | colon adenocarcinoma | Male | >=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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