Tissue | Expression Dynamics | Abbreviation |
Esophagus | ![The image shows the 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.](images/deg_images/Esophagus/EXTL2_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Oral Cavity | ![The image shows the 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.](images/deg_images/OralCavity/EXTL2_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Thyroid | ![The image shows the 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.](images/deg_images/Thyroid/EXTL2_pca_on_diff_genes.png) | ATC: Anaplastic thyroid cancer |
HT: Hashimoto's thyroiditis |
PTC: Papillary thyroid cancer |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00091002 | Esophagus | ESCC | glycoprotein metabolic process | 226/8552 | 387/18723 | 2.64e-07 | 3.94e-06 | 226 |
GO:00700854 | Esophagus | ESCC | glycosylation | 144/8552 | 240/18723 | 5.12e-06 | 5.38e-05 | 144 |
GO:00064865 | Esophagus | ESCC | protein glycosylation | 135/8552 | 226/18723 | 1.36e-05 | 1.24e-04 | 135 |
GO:00434135 | Esophagus | ESCC | macromolecule glycosylation | 135/8552 | 226/18723 | 1.36e-05 | 1.24e-04 | 135 |
GO:00092256 | Esophagus | ESCC | nucleotide-sugar metabolic process | 29/8552 | 36/18723 | 1.91e-05 | 1.67e-04 | 29 |
GO:00091012 | Esophagus | ESCC | glycoprotein biosynthetic process | 181/8552 | 317/18723 | 2.54e-05 | 2.15e-04 | 181 |
GO:0006029 | Esophagus | ESCC | proteoglycan metabolic process | 48/8552 | 79/18723 | 4.93e-03 | 1.89e-02 | 48 |
GO:0030166 | Esophagus | ESCC | proteoglycan biosynthetic process | 35/8552 | 56/18723 | 8.30e-03 | 2.94e-02 | 35 |
GO:0030201 | Esophagus | ESCC | heparan sulfate proteoglycan metabolic process | 21/8552 | 31/18723 | 1.10e-02 | 3.70e-02 | 21 |
GO:00092255 | Oral cavity | OSCC | nucleotide-sugar metabolic process | 26/7305 | 36/18723 | 5.44e-05 | 4.51e-04 | 26 |
GO:00091001 | Oral cavity | OSCC | glycoprotein metabolic process | 185/7305 | 387/18723 | 2.37e-04 | 1.54e-03 | 185 |
GO:00091011 | Oral cavity | OSCC | glycoprotein biosynthetic process | 151/7305 | 317/18723 | 1.01e-03 | 5.26e-03 | 151 |
GO:00064864 | Oral cavity | OSCC | protein glycosylation | 111/7305 | 226/18723 | 1.22e-03 | 6.10e-03 | 111 |
GO:00434134 | Oral cavity | OSCC | macromolecule glycosylation | 111/7305 | 226/18723 | 1.22e-03 | 6.10e-03 | 111 |
GO:00700853 | Oral cavity | OSCC | glycosylation | 117/7305 | 240/18723 | 1.29e-03 | 6.42e-03 | 117 |
GO:0006040 | Oral cavity | OSCC | amino sugar metabolic process | 24/7305 | 42/18723 | 1.30e-02 | 4.34e-02 | 24 |
GO:00092257 | Thyroid | PTC | nucleotide-sugar metabolic process | 23/5968 | 36/18723 | 7.78e-05 | 6.66e-04 | 23 |
GO:00064866 | Thyroid | PTC | protein glycosylation | 94/5968 | 226/18723 | 1.25e-03 | 7.13e-03 | 94 |
GO:00434136 | Thyroid | PTC | macromolecule glycosylation | 94/5968 | 226/18723 | 1.25e-03 | 7.13e-03 | 94 |
GO:00700855 | Thyroid | PTC | glycosylation | 96/5968 | 240/18723 | 4.57e-03 | 2.15e-02 | 96 |
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 |
EXTL2 | SNV | Missense_Mutation | novel | c.388N>G | p.Arg130Gly | p.R130G | Q9UBQ6 | protein_coding | deleterious(0.01) | benign(0.082) | TCGA-A5-A0VP-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
EXTL2 | SNV | Missense_Mutation | novel | c.346C>T | p.Pro116Ser | p.P116S | Q9UBQ6 | protein_coding | tolerated(0.05) | probably_damaging(0.983) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
EXTL2 | SNV | Missense_Mutation | novel | c.739G>A | p.Ala247Thr | p.A247T | Q9UBQ6 | protein_coding | deleterious(0) | benign(0.135) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
EXTL2 | SNV | Missense_Mutation | novel | c.878N>T | p.Arg293Met | p.R293M | Q9UBQ6 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-AP-A05O-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | PD |
EXTL2 | SNV | Missense_Mutation | novel | c.509N>G | p.Phe170Cys | p.F170C | Q9UBQ6 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
EXTL2 | SNV | Missense_Mutation | | c.389N>T | p.Arg130Met | p.R130M | Q9UBQ6 | protein_coding | deleterious(0) | benign(0.402) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
EXTL2 | SNV | Missense_Mutation | novel | c.409N>T | p.Val137Phe | p.V137F | Q9UBQ6 | protein_coding | deleterious(0.01) | benign(0.147) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
EXTL2 | SNV | Missense_Mutation | novel | c.488C>A | p.Ala163Asp | p.A163D | Q9UBQ6 | protein_coding | deleterious(0) | probably_damaging(0.946) | TCGA-AP-A1E0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | SD |
EXTL2 | SNV | Missense_Mutation | | c.518N>G | p.Gln173Arg | p.Q173R | Q9UBQ6 | protein_coding | tolerated(1) | benign(0.024) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
EXTL2 | SNV | Missense_Mutation | rs774090115 | c.79C>T | p.Leu27Phe | p.L27F | Q9UBQ6 | protein_coding | tolerated_low_confidence(0.06) | possibly_damaging(0.64) | TCGA-AX-A2HD-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |