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/RAB38_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
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/RAB38_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/RAB38_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Skin | ![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/Skin/RAB38_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00160506 | Cervix | CC | vesicle organization | 54/2311 | 300/18723 | 2.71e-03 | 1.85e-02 | 54 |
GO:001605014 | Esophagus | ESCC | vesicle organization | 211/8552 | 300/18723 | 2.85e-18 | 2.87e-16 | 211 |
GO:00086544 | Esophagus | ESCC | phospholipid biosynthetic process | 162/8552 | 253/18723 | 2.59e-09 | 5.73e-08 | 162 |
GO:00464744 | Esophagus | ESCC | glycerophospholipid biosynthetic process | 135/8552 | 211/18723 | 5.75e-08 | 1.02e-06 | 135 |
GO:00450175 | Esophagus | ESCC | glycerolipid biosynthetic process | 154/8552 | 252/18723 | 5.20e-07 | 6.96e-06 | 154 |
GO:00066446 | Esophagus | ESCC | phospholipid metabolic process | 218/8552 | 383/18723 | 5.37e-06 | 5.59e-05 | 218 |
GO:00330593 | Esophagus | ESCC | cellular pigmentation | 40/8552 | 53/18723 | 9.67e-06 | 9.21e-05 | 40 |
GO:00066561 | Esophagus | ESCC | phosphatidylcholine biosynthetic process | 24/8552 | 29/18723 | 4.50e-05 | 3.55e-04 | 24 |
GO:00066505 | Esophagus | ESCC | glycerophospholipid metabolic process | 174/8552 | 306/18723 | 4.92e-05 | 3.85e-04 | 174 |
GO:00487531 | Esophagus | ESCC | pigment granule organization | 23/8552 | 29/18723 | 2.25e-04 | 1.40e-03 | 23 |
GO:00324381 | Esophagus | ESCC | melanosome organization | 22/8552 | 28/18723 | 3.95e-04 | 2.26e-03 | 22 |
GO:00464864 | Esophagus | ESCC | glycerolipid metabolic process | 211/8552 | 392/18723 | 6.51e-04 | 3.46e-03 | 211 |
GO:00514521 | Esophagus | ESCC | intracellular pH reduction | 29/8552 | 42/18723 | 1.87e-03 | 8.46e-03 | 29 |
GO:0090382 | Esophagus | ESCC | phagosome maturation | 19/8552 | 25/18723 | 2.03e-03 | 9.08e-03 | 19 |
GO:00458511 | Esophagus | ESCC | pH reduction | 31/8552 | 46/18723 | 2.42e-03 | 1.06e-02 | 31 |
GO:00434731 | Esophagus | ESCC | pigmentation | 59/8552 | 98/18723 | 2.64e-03 | 1.12e-02 | 59 |
GO:0035646 | Esophagus | ESCC | endosome to melanosome transport | 9/8552 | 10/18723 | 5.09e-03 | 1.92e-02 | 9 |
GO:0043485 | Esophagus | ESCC | endosome to pigment granule transport | 9/8552 | 10/18723 | 5.09e-03 | 1.92e-02 | 9 |
GO:0048757 | Esophagus | ESCC | pigment granule maturation | 9/8552 | 10/18723 | 5.09e-03 | 1.92e-02 | 9 |
GO:01501724 | Esophagus | ESCC | regulation of phosphatidylcholine metabolic process | 9/8552 | 10/18723 | 5.09e-03 | 1.92e-02 | 9 |
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 |
RAB38 | SNV | Missense_Mutation | novel | c.118N>T | p.Ala40Ser | p.A40S | P57729 | protein_coding | tolerated(0.27) | possibly_damaging(0.859) | TCGA-A7-A0DB-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD |
RAB38 | SNV | Missense_Mutation | | c.8N>T | p.Ala3Val | p.A3V | P57729 | protein_coding | tolerated(0.15) | benign(0.02) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
RAB38 | SNV | Missense_Mutation | | c.149N>A | p.Val50Glu | p.V50E | P57729 | protein_coding | deleterious(0.03) | probably_damaging(0.98) | TCGA-BH-A1FM-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
RAB38 | insertion | Frame_Shift_Ins | novel | c.66_67insGAGCAATTTAACTCCC | p.Thr23GlufsTer82 | p.T23Efs*82 | P57729 | protein_coding | | | TCGA-AN-A0FV-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RAB38 | SNV | Missense_Mutation | novel | c.548N>G | p.Asp183Gly | p.D183G | P57729 | protein_coding | tolerated(0.21) | benign(0) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
RAB38 | SNV | Missense_Mutation | | c.272A>T | p.Asp91Val | p.D91V | P57729 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AA-A02R-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
RAB38 | SNV | Missense_Mutation | rs765696305 | c.313N>G | p.Lys105Glu | p.K105E | P57729 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AZ-6598-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RAB38 | SNV | Missense_Mutation | rs777409146 | c.505N>A | p.Ala169Thr | p.A169T | P57729 | protein_coding | deleterious(0.01) | probably_damaging(0.997) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
RAB38 | SNV | Missense_Mutation | novel | c.483N>T | p.Lys161Asn | p.K161N | P57729 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AX-A05Z-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | SD |
RAB38 | SNV | Missense_Mutation | novel | c.230G>A | p.Arg77Lys | p.R77K | P57729 | protein_coding | deleterious(0) | probably_damaging(0.919) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |