Tissue | Expression Dynamics | Abbreviation |
Cervix | ![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/Cervix/PACSIN2_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
Colorectum (GSE201348) | ![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/Colorectum/Becker/PACSIN2_pca_on_diff_genes.png) | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | ![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/Colorectum/Chen/PACSIN2_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
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/PACSIN2_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Liver | ![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/Liver/PACSIN2_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Lung | ![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/Lung/PACSIN2_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
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/PACSIN2_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Prostate | ![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/Prostate/PACSIN2_pca_on_diff_genes.png) | BPH: Benign Prostatic Hyperplasia |
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/PACSIN2_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:00301008 | Cervix | CC | regulation of endocytosis | 47/2311 | 211/18723 | 3.65e-05 | 5.82e-04 | 47 |
GO:00315795 | Cervix | CC | membrane raft organization | 9/2311 | 25/18723 | 2.09e-03 | 1.52e-02 | 9 |
GO:00017652 | Cervix | CC | membrane raft assembly | 5/2311 | 11/18723 | 6.92e-03 | 3.74e-02 | 5 |
GO:00070092 | Cervix | CC | plasma membrane organization | 28/2311 | 142/18723 | 7.85e-03 | 4.14e-02 | 28 |
GO:0030100 | Colorectum | AD | regulation of endocytosis | 67/3918 | 211/18723 | 1.42e-04 | 2.01e-03 | 67 |
GO:0071709 | Colorectum | AD | membrane assembly | 22/3918 | 50/18723 | 2.00e-04 | 2.66e-03 | 22 |
GO:0044091 | Colorectum | AD | membrane biogenesis | 22/3918 | 55/18723 | 9.88e-04 | 9.28e-03 | 22 |
GO:0036010 | Colorectum | AD | protein localization to endosome | 12/3918 | 24/18723 | 1.48e-03 | 1.25e-02 | 12 |
GO:00717091 | Colorectum | SER | membrane assembly | 20/2897 | 50/18723 | 2.45e-05 | 6.84e-04 | 20 |
GO:00440911 | Colorectum | SER | membrane biogenesis | 20/2897 | 55/18723 | 1.21e-04 | 2.49e-03 | 20 |
GO:0051051 | Colorectum | SER | negative regulation of transport | 98/2897 | 470/18723 | 1.01e-03 | 1.19e-02 | 98 |
GO:0007009 | Colorectum | SER | plasma membrane organization | 36/2897 | 142/18723 | 1.50e-03 | 1.62e-02 | 36 |
GO:0031579 | Colorectum | SER | membrane raft organization | 10/2897 | 25/18723 | 2.70e-03 | 2.44e-02 | 10 |
GO:00301001 | Colorectum | SER | regulation of endocytosis | 48/2897 | 211/18723 | 3.29e-03 | 2.82e-02 | 48 |
GO:00360101 | Colorectum | SER | protein localization to endosome | 9/2897 | 24/18723 | 7.19e-03 | 4.99e-02 | 9 |
GO:00301002 | Colorectum | MSS | regulation of endocytosis | 63/3467 | 211/18723 | 4.05e-05 | 7.66e-04 | 63 |
GO:00360102 | Colorectum | MSS | protein localization to endosome | 12/3467 | 24/18723 | 4.68e-04 | 5.50e-03 | 12 |
GO:00717092 | Colorectum | MSS | membrane assembly | 19/3467 | 50/18723 | 9.61e-04 | 9.67e-03 | 19 |
GO:00440912 | Colorectum | MSS | membrane biogenesis | 19/3467 | 55/18723 | 3.47e-03 | 2.59e-02 | 19 |
GO:00510511 | Colorectum | MSS | negative regulation of transport | 110/3467 | 470/18723 | 4.20e-03 | 3.04e-02 | 110 |
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 |
PACSIN2 | SNV | Missense_Mutation | rs748602959 | c.1135N>A | p.Asp379Asn | p.D379N | Q9UNF0 | protein_coding | tolerated(0.5) | benign(0.003) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
PACSIN2 | SNV | Missense_Mutation | novel | c.583N>C | p.Glu195Gln | p.E195Q | Q9UNF0 | protein_coding | tolerated(0.24) | possibly_damaging(0.456) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
PACSIN2 | SNV | Missense_Mutation | | c.149N>A | p.Arg50His | p.R50H | Q9UNF0 | protein_coding | deleterious(0) | possibly_damaging(0.851) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
PACSIN2 | SNV | Missense_Mutation | | c.225G>T | p.Gln75His | p.Q75H | Q9UNF0 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AX-A2HD-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
PACSIN2 | SNV | Missense_Mutation | rs749432192 | c.77G>A | p.Arg26Gln | p.R26Q | Q9UNF0 | protein_coding | deleterious(0.02) | probably_damaging(0.945) | TCGA-AX-A2HD-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
PACSIN2 | SNV | Missense_Mutation | | c.167N>T | p.Ala56Val | p.A56V | Q9UNF0 | protein_coding | deleterious(0) | possibly_damaging(0.597) | TCGA-B5-A11E-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PACSIN2 | SNV | Missense_Mutation | | c.190N>T | p.Arg64Trp | p.R64W | Q9UNF0 | protein_coding | deleterious(0) | probably_damaging(0.925) | TCGA-BG-A220-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PACSIN2 | SNV | Missense_Mutation | | c.566N>C | p.Lys189Thr | p.K189T | Q9UNF0 | protein_coding | deleterious(0.01) | probably_damaging(0.918) | TCGA-D1-A16X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PACSIN2 | SNV | Missense_Mutation | novel | c.13T>C | p.Tyr5His | p.Y5H | Q9UNF0 | protein_coding | tolerated(0.13) | probably_damaging(0.949) | TCGA-D1-A175-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
PACSIN2 | SNV | Missense_Mutation | | c.193N>T | p.Arg65Cys | p.R65C | Q9UNF0 | protein_coding | deleterious(0) | probably_damaging(0.992) | TCGA-DI-A0WH-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |