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Gene: ANKLE1 |
Gene summary for ANKLE1 |
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Gene information | Species | Human | Gene symbol | ANKLE1 | Gene ID | 126549 |
Gene name | ankyrin repeat and LEM domain containing 1 | |
Gene Alias | ANKRD41 | |
Cytomap | 19p13.11 | |
Gene Type | protein-coding | GO ID | GO:0000018 | UniProtAcc | B4E124 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
126549 | ANKLE1 | HCC1 | Human | Liver | HCC | 1.44e-03 | 7.63e-01 | 0.5336 |
126549 | ANKLE1 | HCC2 | Human | Liver | HCC | 2.01e-12 | 1.07e+00 | 0.5341 |
126549 | ANKLE1 | HCC5 | Human | Liver | HCC | 2.36e-12 | 7.54e-01 | 0.4932 |
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Tissue | Expression Dynamics | Abbreviation |
Liver | ![]() | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
∗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 |
Thyroid | PTC | ![]() |
Thyroid | goiters | ![]() |
Thyroid | ATC | ![]() |
∗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:000691322 | Liver | HCC | nucleocytoplasmic transport | 208/7958 | 301/18723 | 5.51e-21 | 8.12e-19 | 208 |
GO:005116922 | Liver | HCC | nuclear transport | 208/7958 | 301/18723 | 5.51e-21 | 8.12e-19 | 208 |
GO:005116822 | Liver | HCC | nuclear export | 113/7958 | 154/18723 | 6.30e-15 | 4.39e-13 | 113 |
GO:0090305 | Liver | HCC | nucleic acid phosphodiester bond hydrolysis | 152/7958 | 261/18723 | 1.90e-07 | 3.46e-06 | 152 |
GO:005105221 | Liver | HCC | regulation of DNA metabolic process | 198/7958 | 359/18723 | 7.62e-07 | 1.17e-05 | 198 |
GO:200102021 | Liver | HCC | regulation of response to DNA damage stimulus | 128/7958 | 219/18723 | 1.31e-06 | 1.90e-05 | 128 |
GO:000661112 | Liver | HCC | protein export from nucleus | 42/7958 | 57/18723 | 1.75e-06 | 2.45e-05 | 42 |
GO:200102211 | Liver | HCC | positive regulation of response to DNA damage stimulus | 64/7958 | 105/18723 | 1.03e-04 | 8.88e-04 | 64 |
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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 |
ANKLE1 | SNV | Missense_Mutation | c.1910G>T | p.Arg637Leu | p.R637L | Q8NAG6 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-D8-A27F-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin+cyclophosphamide | SD | |
ANKLE1 | SNV | Missense_Mutation | rs146189965 | c.1571N>T | p.Ser524Leu | p.S524L | Q8NAG6 | protein_coding | tolerated(0.33) | benign(0.029) | TCGA-IR-A3LK-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | PD |
ANKLE1 | SNV | Missense_Mutation | c.1505A>T | p.Lys502Met | p.K502M | Q8NAG6 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A6-3810-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
ANKLE1 | SNV | Missense_Mutation | rs146466494 | c.1684C>T | p.Arg562Trp | p.R562W | Q8NAG6 | protein_coding | tolerated(0.09) | benign(0.03) | TCGA-A6-6648-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | PD |
ANKLE1 | SNV | Missense_Mutation | c.1877A>G | p.Tyr626Cys | p.Y626C | Q8NAG6 | protein_coding | deleterious(0) | probably_damaging(0.979) | TCGA-AA-3663-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
ANKLE1 | SNV | Missense_Mutation | c.86N>T | p.Ala29Val | p.A29V | Q8NAG6 | protein_coding | deleterious_low_confidence(0.01) | possibly_damaging(0.75) | TCGA-AD-6889-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Chemotherapy | xeloda | PD | |
ANKLE1 | SNV | Missense_Mutation | c.1316N>A | p.Arg439Lys | p.R439K | Q8NAG6 | protein_coding | tolerated(0.09) | benign(0.287) | TCGA-CM-6168-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
ANKLE1 | SNV | Missense_Mutation | c.1724N>C | p.Arg575Pro | p.R575P | Q8NAG6 | protein_coding | deleterious(0.01) | possibly_damaging(0.885) | TCGA-DM-A1D7-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
ANKLE1 | SNV | Missense_Mutation | rs146387346 | c.1445N>T | p.Ala482Val | p.A482V | Q8NAG6 | protein_coding | tolerated(0.34) | benign(0.01) | TCGA-G4-6586-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ANKLE1 | SNV | Missense_Mutation | c.242N>C | p.Leu81Pro | p.L81P | Q8NAG6 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-NH-A5IV-01 | Colorectum | colon adenocarcinoma | 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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