Tissue | Expression Dynamics | Abbreviation |
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/AHI1_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/AHI1_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Endometrium | ![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/Endometrium/AHI1_pca_on_diff_genes.png) | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid 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/AHI1_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/AHI1_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/AHI1_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/AHI1_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/AHI1_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/AHI1_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:00720731 | Colorectum | MSS | kidney epithelium development | 38/3467 | 136/18723 | 4.53e-03 | 3.19e-02 | 38 |
GO:00485681 | Colorectum | MSS | embryonic organ development | 100/3467 | 427/18723 | 6.00e-03 | 4.03e-02 | 100 |
GO:0001655 | Colorectum | MSS | urogenital system development | 81/3467 | 338/18723 | 6.88e-03 | 4.43e-02 | 81 |
GO:00316231 | Colorectum | MSS | receptor internalization | 32/3467 | 113/18723 | 7.02e-03 | 4.50e-02 | 32 |
GO:00068982 | Colorectum | FAP | receptor-mediated endocytosis | 62/2622 | 244/18723 | 1.47e-06 | 6.39e-05 | 62 |
GO:00431122 | Colorectum | FAP | receptor metabolic process | 46/2622 | 166/18723 | 2.70e-06 | 1.02e-04 | 46 |
GO:00458072 | Colorectum | FAP | positive regulation of endocytosis | 31/2622 | 100/18723 | 9.77e-06 | 2.85e-04 | 31 |
GO:00301003 | Colorectum | FAP | regulation of endocytosis | 52/2622 | 211/18723 | 2.47e-05 | 5.77e-04 | 52 |
GO:00605622 | Colorectum | FAP | epithelial tube morphogenesis | 71/2622 | 325/18723 | 7.23e-05 | 1.33e-03 | 71 |
GO:00482602 | Colorectum | FAP | positive regulation of receptor-mediated endocytosis | 18/2622 | 52/18723 | 1.48e-04 | 2.29e-03 | 18 |
GO:00482592 | Colorectum | FAP | regulation of receptor-mediated endocytosis | 30/2622 | 110/18723 | 1.89e-04 | 2.76e-03 | 30 |
GO:00720732 | Colorectum | FAP | kidney epithelium development | 35/2622 | 136/18723 | 2.03e-04 | 2.92e-03 | 35 |
GO:00016551 | Colorectum | FAP | urogenital system development | 70/2622 | 338/18723 | 4.26e-04 | 5.11e-03 | 70 |
GO:0072001 | Colorectum | FAP | renal system development | 63/2622 | 302/18723 | 6.59e-04 | 7.19e-03 | 63 |
GO:0001822 | Colorectum | FAP | kidney development | 61/2622 | 293/18723 | 8.38e-04 | 8.72e-03 | 61 |
GO:0030856 | Colorectum | FAP | regulation of epithelial cell differentiation | 36/2622 | 154/18723 | 1.16e-03 | 1.11e-02 | 36 |
GO:00316232 | Colorectum | FAP | receptor internalization | 28/2622 | 113/18723 | 1.56e-03 | 1.39e-02 | 28 |
GO:0072009 | Colorectum | FAP | nephron epithelium development | 27/2622 | 109/18723 | 1.89e-03 | 1.60e-02 | 27 |
GO:0072006 | Colorectum | FAP | nephron development | 33/2622 | 142/18723 | 2.02e-03 | 1.68e-02 | 33 |
GO:0061326 | Colorectum | FAP | renal tubule development | 24/2622 | 94/18723 | 2.13e-03 | 1.76e-02 | 24 |
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 |
AHI1 | SNV | Missense_Mutation | | c.3220N>A | p.Arg1074Ser | p.R1074S | Q8N157 | protein_coding | deleterious(0) | probably_damaging(0.989) | TCGA-A2-A0CL-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cytoxan | SD |
AHI1 | SNV | Missense_Mutation | rs774732509 | c.3565N>C | p.Gly1189Arg | p.G1189R | Q8N157 | protein_coding | tolerated_low_confidence(0.25) | possibly_damaging(0.448) | TCGA-A2-A3Y0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |
AHI1 | SNV | Missense_Mutation | | c.1723G>A | p.Glu575Lys | p.E575K | Q8N157 | protein_coding | tolerated(0.18) | possibly_damaging(0.628) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
AHI1 | SNV | Missense_Mutation | | c.1231A>G | p.Lys411Glu | p.K411E | Q8N157 | protein_coding | deleterious(0) | possibly_damaging(0.907) | TCGA-AN-A0XN-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
AHI1 | SNV | Missense_Mutation | novel | c.1467N>A | p.Asn489Lys | p.N489K | Q8N157 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-AR-A0U0-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
AHI1 | SNV | Missense_Mutation | | c.974N>G | p.Glu325Gly | p.E325G | Q8N157 | protein_coding | deleterious(0) | benign(0.255) | TCGA-D8-A1J8-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | nolvadex | SD |
AHI1 | SNV | Missense_Mutation | | c.303G>C | p.Leu101Phe | p.L101F | Q8N157 | protein_coding | tolerated(0.14) | benign(0.172) | TCGA-D8-A1JA-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD |
AHI1 | SNV | Missense_Mutation | | c.2440C>T | p.Arg814Cys | p.R814C | Q8N157 | protein_coding | tolerated(0.1) | benign(0.173) | TCGA-D8-A1JB-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
AHI1 | insertion | Frame_Shift_Ins | novel | c.1465_1466insCTCCTGCTTT | p.Asn489ThrfsTer19 | p.N489Tfs*19 | Q8N157 | protein_coding | | | TCGA-AR-A0U0-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
AHI1 | SNV | Missense_Mutation | rs199612496 | c.82C>T | p.Arg28Cys | p.R28C | Q8N157 | protein_coding | tolerated(0.07) | benign(0) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |