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Gene: EMILIN2 |
Gene summary for EMILIN2 |
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Gene information | Species | Human | Gene symbol | EMILIN2 | Gene ID | 84034 |
Gene name | elastin microfibril interfacer 2 | |
Gene Alias | EMILIN-2 | |
Cytomap | 18p11.32-p11.31 | |
Gene Type | protein-coding | GO ID | GO:0007155 | UniProtAcc | Q9BXX0 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
84034 | EMILIN2 | male-WTA | Human | Thyroid | PTC | 2.98e-06 | 1.32e-01 | 0.1037 |
84034 | EMILIN2 | PTC01 | Human | Thyroid | PTC | 5.49e-12 | 2.54e-01 | 0.1899 |
84034 | EMILIN2 | PTC04 | Human | Thyroid | PTC | 1.31e-23 | 5.03e-01 | 0.1927 |
84034 | EMILIN2 | PTC05 | Human | Thyroid | PTC | 2.04e-16 | 4.86e-01 | 0.2065 |
84034 | EMILIN2 | PTC06 | Human | Thyroid | PTC | 8.65e-12 | 3.19e-01 | 0.2057 |
84034 | EMILIN2 | PTC07 | Human | Thyroid | PTC | 1.89e-24 | 4.55e-01 | 0.2044 |
84034 | EMILIN2 | ATC11 | Human | Thyroid | ATC | 2.77e-02 | 2.44e-01 | 0.3386 |
84034 | EMILIN2 | ATC12 | Human | Thyroid | ATC | 1.18e-03 | 2.18e-01 | 0.34 |
84034 | EMILIN2 | ATC13 | Human | Thyroid | ATC | 2.26e-33 | 6.38e-01 | 0.34 |
84034 | EMILIN2 | ATC2 | Human | Thyroid | ATC | 2.68e-07 | 5.90e-01 | 0.34 |
84034 | EMILIN2 | ATC4 | Human | Thyroid | ATC | 5.04e-06 | 2.84e-01 | 0.34 |
84034 | EMILIN2 | ATC5 | Human | Thyroid | ATC | 6.41e-40 | 6.98e-01 | 0.34 |
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Tissue | Expression Dynamics | Abbreviation |
Thyroid | ![]() | ATC: Anaplastic thyroid cancer |
HT: Hashimoto's thyroiditis | ||
PTC: Papillary thyroid cancer |
∗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 |
EMILIN2 | SNV | Missense_Mutation | novel | c.2114N>T | p.Arg705Met | p.R705M | Q9BXX0 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
EMILIN2 | SNV | Missense_Mutation | rs763455124 | c.2881N>A | p.Glu961Lys | p.E961K | Q9BXX0 | protein_coding | tolerated(0.1) | probably_damaging(0.944) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
EMILIN2 | SNV | Missense_Mutation | rs768102952 | c.395N>T | p.Thr132Met | p.T132M | Q9BXX0 | protein_coding | deleterious(0.03) | benign(0.066) | TCGA-AJ-A3BH-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
EMILIN2 | SNV | Missense_Mutation | novel | c.439N>A | p.Glu147Lys | p.E147K | Q9BXX0 | protein_coding | tolerated(0.2) | benign(0.037) | TCGA-AJ-A3EK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
EMILIN2 | SNV | Missense_Mutation | novel | c.431C>T | p.Thr144Ile | p.T144I | Q9BXX0 | protein_coding | tolerated(0.15) | benign(0.298) | TCGA-AJ-A8CW-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
EMILIN2 | SNV | Missense_Mutation | novel | c.1026N>A | p.Asn342Lys | p.N342K | Q9BXX0 | protein_coding | deleterious(0) | possibly_damaging(0.722) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
EMILIN2 | SNV | Missense_Mutation | c.2291N>G | p.Gln764Arg | p.Q764R | Q9BXX0 | protein_coding | tolerated(0.16) | benign(0.017) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
EMILIN2 | SNV | Missense_Mutation | c.1230N>T | p.Lys410Asn | p.K410N | Q9BXX0 | protein_coding | deleterious(0.04) | benign(0.045) | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
EMILIN2 | SNV | Missense_Mutation | rs771087767 | c.2912N>T | p.Ser971Leu | p.S971L | Q9BXX0 | protein_coding | deleterious(0) | probably_damaging(0.98) | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
EMILIN2 | SNV | Missense_Mutation | rs201232565 | c.1307N>A | p.Arg436His | p.R436H | Q9BXX0 | protein_coding | tolerated(0.37) | benign(0.005) | TCGA-AP-A059-01 | 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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