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/ABCA13_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/ABCA13_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/ABCA13_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/ABCA13_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
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/ABCA13_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/ABCA13_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
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:00458077 | Cervix | CC | positive regulation of endocytosis | 27/2311 | 100/18723 | 5.55e-05 | 8.10e-04 | 27 |
GO:00484883 | Cervix | CC | synaptic vesicle endocytosis | 16/2311 | 62/18723 | 2.87e-03 | 1.91e-02 | 16 |
GO:01402383 | Cervix | CC | presynaptic endocytosis | 16/2311 | 62/18723 | 2.87e-03 | 1.91e-02 | 16 |
GO:00364655 | Cervix | CC | synaptic vesicle recycling | 17/2311 | 75/18723 | 8.87e-03 | 4.53e-02 | 17 |
GO:0030100 | Colorectum | AD | regulation of endocytosis | 67/3918 | 211/18723 | 1.42e-04 | 2.01e-03 | 67 |
GO:0045807 | Colorectum | AD | positive regulation of endocytosis | 35/3918 | 100/18723 | 7.78e-04 | 7.78e-03 | 35 |
GO:0010876 | Colorectum | AD | lipid localization | 120/3918 | 448/18723 | 1.59e-03 | 1.33e-02 | 120 |
GO:0006869 | Colorectum | AD | lipid transport | 108/3918 | 398/18723 | 1.67e-03 | 1.39e-02 | 108 |
GO:0042886 | Colorectum | AD | amide transport | 83/3918 | 301/18723 | 3.37e-03 | 2.46e-02 | 83 |
GO:0099003 | Colorectum | AD | vesicle-mediated transport in synapse | 57/3918 | 200/18723 | 6.53e-03 | 4.06e-02 | 57 |
GO:00301002 | Colorectum | MSS | regulation of endocytosis | 63/3467 | 211/18723 | 4.05e-05 | 7.66e-04 | 63 |
GO:00458071 | Colorectum | MSS | positive regulation of endocytosis | 33/3467 | 100/18723 | 3.73e-04 | 4.72e-03 | 33 |
GO:00990031 | Colorectum | MSS | vesicle-mediated transport in synapse | 54/3467 | 200/18723 | 1.94e-03 | 1.67e-02 | 54 |
GO:00428861 | Colorectum | MSS | amide transport | 76/3467 | 301/18723 | 2.14e-03 | 1.80e-02 | 76 |
GO:0099504 | Colorectum | MSS | synaptic vesicle cycle | 48/3467 | 181/18723 | 4.85e-03 | 3.39e-02 | 48 |
GO:0048488 | Colorectum | MSS | synaptic vesicle endocytosis | 20/3467 | 62/18723 | 6.63e-03 | 4.38e-02 | 20 |
GO:0140238 | Colorectum | MSS | presynaptic endocytosis | 20/3467 | 62/18723 | 6.63e-03 | 4.38e-02 | 20 |
GO:00108761 | Colorectum | MSS | lipid localization | 104/3467 | 448/18723 | 6.76e-03 | 4.38e-02 | 104 |
GO:0036465 | Colorectum | MSS | synaptic vesicle recycling | 23/3467 | 75/18723 | 7.49e-03 | 4.72e-02 | 23 |
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 |
ABCA13 | SNV | Missense_Mutation | novel | c.623N>T | p.Thr208Ile | p.T208I | | protein_coding | tolerated(0.06) | benign(0.028) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
ABCA13 | SNV | Missense_Mutation | novel | c.863N>G | p.Glu288Gly | p.E288G | | protein_coding | tolerated(0.09) | benign(0.01) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
ABCA13 | SNV | Missense_Mutation | novel | c.4024N>T | p.Asp1342Tyr | p.D1342Y | | protein_coding | tolerated(0.88) | benign(0.391) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
ABCA13 | SNV | Missense_Mutation | | c.10079N>A | p.Arg3360Lys | p.R3360K | | protein_coding | tolerated(0.59) | benign(0.164) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
ABCA13 | SNV | Missense_Mutation | novel | c.12215N>T | p.Thr4072Ile | p.T4072I | | protein_coding | deleterious(0) | benign(0.335) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
ABCA13 | SNV | Missense_Mutation | novel | c.13585N>T | p.Ala4529Ser | p.A4529S | | protein_coding | deleterious(0.01) | probably_damaging(0.999) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
ABCA13 | SNV | Missense_Mutation | | c.13921N>A | p.Gly4641Ser | p.G4641S | | protein_coding | deleterious(0) | possibly_damaging(0.785) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
ABCA13 | SNV | Missense_Mutation | | c.5797A>C | p.Asn1933His | p.N1933H | | protein_coding | deleterious(0) | probably_damaging(0.971) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ABCA13 | SNV | Missense_Mutation | | c.6784G>T | p.Asp2262Tyr | p.D2262Y | | protein_coding | deleterious(0.01) | possibly_damaging(0.812) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ABCA13 | SNV | Missense_Mutation | | c.7546G>A | p.Ala2516Thr | p.A2516T | | protein_coding | tolerated(0.1) | possibly_damaging(0.779) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |