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/HIP1_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/HIP1_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/HIP1_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/HIP1_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/HIP1_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/HIP1_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/HIP1_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/HIP1_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/HIP1_pca_on_diff_genes.png) | BPH: Benign Prostatic Hyperplasia |
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/HIP1_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
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/HIP1_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:004580719 | Skin | AK | positive regulation of endocytosis | 20/1910 | 100/18723 | 2.43e-03 | 1.59e-02 | 20 |
GO:00315036 | Skin | AK | protein-containing complex localization | 36/1910 | 220/18723 | 2.97e-03 | 1.87e-02 | 36 |
GO:00480088 | Skin | AK | platelet-derived growth factor receptor signaling pathway | 13/1910 | 56/18723 | 3.55e-03 | 2.15e-02 | 13 |
GO:00518968 | Skin | AK | regulation of protein kinase B signaling | 31/1910 | 185/18723 | 3.88e-03 | 2.29e-02 | 31 |
GO:004328024 | Skin | AK | positive regulation of cysteine-type endopeptidase activity involved in apoptotic process | 23/1910 | 129/18723 | 5.54e-03 | 3.05e-02 | 23 |
GO:19011849 | Skin | AK | regulation of ERBB signaling pathway | 16/1910 | 79/18723 | 5.56e-03 | 3.05e-02 | 16 |
GO:00420589 | Skin | AK | regulation of epidermal growth factor receptor signaling pathway | 15/1910 | 73/18723 | 6.21e-03 | 3.33e-02 | 15 |
GO:004826810 | Skin | AK | clathrin coat assembly | 6/1910 | 18/18723 | 7.04e-03 | 3.63e-02 | 6 |
GO:003164729 | Skin | cSCC | regulation of protein stability | 144/4864 | 298/18723 | 6.51e-17 | 6.80e-15 | 144 |
GO:004586229 | Skin | cSCC | positive regulation of proteolysis | 169/4864 | 372/18723 | 2.43e-16 | 2.21e-14 | 169 |
GO:0050821112 | Skin | cSCC | protein stabilization | 96/4864 | 191/18723 | 5.00e-13 | 2.93e-11 | 96 |
GO:005254728 | Skin | cSCC | regulation of peptidase activity | 177/4864 | 461/18723 | 2.21e-09 | 8.02e-08 | 177 |
GO:005254828 | Skin | cSCC | regulation of endopeptidase activity | 165/4864 | 432/18723 | 1.18e-08 | 3.63e-07 | 165 |
GO:003150315 | Skin | cSCC | protein-containing complex localization | 95/4864 | 220/18723 | 2.00e-08 | 5.82e-07 | 95 |
GO:001095227 | Skin | cSCC | positive regulation of peptidase activity | 85/4864 | 197/18723 | 1.14e-07 | 2.69e-06 | 85 |
GO:004328128 | Skin | cSCC | regulation of cysteine-type endopeptidase activity involved in apoptotic process | 89/4864 | 209/18723 | 1.20e-07 | 2.79e-06 | 89 |
GO:200011628 | Skin | cSCC | regulation of cysteine-type endopeptidase activity | 97/4864 | 235/18723 | 2.01e-07 | 4.34e-06 | 97 |
GO:003812724 | Skin | cSCC | ERBB signaling pathway | 55/4864 | 121/18723 | 2.77e-06 | 4.38e-05 | 55 |
GO:0010950112 | Skin | cSCC | positive regulation of endopeptidase activity | 74/4864 | 179/18723 | 4.98e-06 | 7.25e-05 | 74 |
GO:000701529 | Skin | cSCC | actin filament organization | 156/4864 | 442/18723 | 7.37e-06 | 1.02e-04 | 156 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0501618 | Cervix | CC | Huntington disease | 94/1267 | 306/8465 | 8.49e-13 | 3.06e-11 | 1.81e-11 | 94 |
hsa0502218 | Cervix | CC | Pathways of neurodegeneration - multiple diseases | 128/1267 | 476/8465 | 2.87e-12 | 9.29e-11 | 5.50e-11 | 128 |
hsa0501619 | Cervix | CC | Huntington disease | 94/1267 | 306/8465 | 8.49e-13 | 3.06e-11 | 1.81e-11 | 94 |
hsa0502219 | Cervix | CC | Pathways of neurodegeneration - multiple diseases | 128/1267 | 476/8465 | 2.87e-12 | 9.29e-11 | 5.50e-11 | 128 |
hsa05016 | Colorectum | AD | Huntington disease | 147/2092 | 306/8465 | 1.93e-19 | 9.26e-18 | 5.91e-18 | 147 |
hsa05022 | Colorectum | AD | Pathways of neurodegeneration - multiple diseases | 201/2092 | 476/8465 | 4.54e-18 | 1.27e-16 | 8.09e-17 | 201 |
hsa050161 | Colorectum | AD | Huntington disease | 147/2092 | 306/8465 | 1.93e-19 | 9.26e-18 | 5.91e-18 | 147 |
hsa050221 | Colorectum | AD | Pathways of neurodegeneration - multiple diseases | 201/2092 | 476/8465 | 4.54e-18 | 1.27e-16 | 8.09e-17 | 201 |
hsa050164 | Colorectum | MSS | Huntington disease | 141/1875 | 306/8465 | 2.90e-21 | 1.62e-19 | 9.92e-20 | 141 |
hsa050224 | Colorectum | MSS | Pathways of neurodegeneration - multiple diseases | 192/1875 | 476/8465 | 2.79e-20 | 1.04e-18 | 6.36e-19 | 192 |
hsa050165 | Colorectum | MSS | Huntington disease | 141/1875 | 306/8465 | 2.90e-21 | 1.62e-19 | 9.92e-20 | 141 |
hsa050225 | Colorectum | MSS | Pathways of neurodegeneration - multiple diseases | 192/1875 | 476/8465 | 2.79e-20 | 1.04e-18 | 6.36e-19 | 192 |
hsa050228 | Colorectum | FAP | Pathways of neurodegeneration - multiple diseases | 117/1404 | 476/8465 | 2.81e-06 | 4.47e-05 | 2.72e-05 | 117 |
hsa050168 | Colorectum | FAP | Huntington disease | 73/1404 | 306/8465 | 5.54e-04 | 3.93e-03 | 2.39e-03 | 73 |
hsa050229 | Colorectum | FAP | Pathways of neurodegeneration - multiple diseases | 117/1404 | 476/8465 | 2.81e-06 | 4.47e-05 | 2.72e-05 | 117 |
hsa050169 | Colorectum | FAP | Huntington disease | 73/1404 | 306/8465 | 5.54e-04 | 3.93e-03 | 2.39e-03 | 73 |
hsa0501620 | Endometrium | AEH | Huntington disease | 118/1197 | 306/8465 | 3.00e-27 | 2.44e-25 | 1.78e-25 | 118 |
hsa0502220 | Endometrium | AEH | Pathways of neurodegeneration - multiple diseases | 137/1197 | 476/8465 | 9.27e-18 | 2.32e-16 | 1.70e-16 | 137 |
hsa05016110 | Endometrium | AEH | Huntington disease | 118/1197 | 306/8465 | 3.00e-27 | 2.44e-25 | 1.78e-25 | 118 |
hsa05022110 | Endometrium | AEH | Pathways of neurodegeneration - multiple diseases | 137/1197 | 476/8465 | 9.27e-18 | 2.32e-16 | 1.70e-16 | 137 |
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 |
HIP1 | SNV | Missense_Mutation | novel | c.341N>A | p.Ser114Tyr | p.S114Y | O00291 | protein_coding | tolerated(0.28) | possibly_damaging(0.883) | TCGA-A2-A0EV-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
HIP1 | SNV | Missense_Mutation | rs782471782 | c.1729C>T | p.Arg577Trp | p.R577W | O00291 | protein_coding | deleterious(0) | benign(0.309) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
HIP1 | SNV | Missense_Mutation | | c.3067N>C | p.Glu1023Gln | p.E1023Q | O00291 | protein_coding | tolerated(0.09) | benign(0.006) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
HIP1 | SNV | Missense_Mutation | | c.2572C>G | p.Pro858Ala | p.P858A | O00291 | protein_coding | tolerated(0.68) | benign(0.012) | TCGA-B6-A0I8-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
HIP1 | SNV | Missense_Mutation | | c.757N>A | p.Asp253Asn | p.D253N | O00291 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-B6-A1KF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
HIP1 | SNV | Missense_Mutation | rs587756668 | c.2482N>C | p.Thr828Pro | p.T828P | O00291 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-D8-A1X7-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | ChemotherapyHormone Therapy | doxorubicine+cyclophosphamide+tamoxifen | SD |
HIP1 | SNV | Missense_Mutation | novel | c.2213N>A | p.Ser738Tyr | p.S738Y | O00291 | protein_coding | deleterious(0.04) | benign(0.003) | TCGA-E9-A1RB-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | methotrexate | SD |
HIP1 | insertion | Frame_Shift_Ins | novel | c.338_339insTCTGTCTGCACCTATAAAATGTTGGCAACTATGTAGTC | p.Ser114LeufsTer15 | p.S114Lfs*15 | O00291 | protein_coding | | | TCGA-A2-A0EV-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
HIP1 | SNV | Missense_Mutation | rs782794159 | c.228C>G | p.Phe76Leu | p.F76L | O00291 | protein_coding | deleterious(0.01) | probably_damaging(1) | TCGA-IR-A3LL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
HIP1 | SNV | Missense_Mutation | | c.2855N>T | p.Ser952Leu | p.S952L | O00291 | protein_coding | deleterious(0) | probably_damaging(0.962) | TCGA-Q1-A73P-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |