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/BTBD7_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/BTBD7_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/BTBD7_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/BTBD7_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/BTBD7_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/BTBD7_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/BTBD7_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/BTBD7_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/BTBD7_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:0007431 | Prostate | BPH | salivary gland development | 12/3107 | 34/18723 | 6.45e-03 | 2.91e-02 | 12 |
GO:0007435 | Prostate | BPH | salivary gland morphogenesis | 11/3107 | 32/18723 | 1.11e-02 | 4.55e-02 | 11 |
GO:004873219 | Prostate | Tumor | gland development | 132/3246 | 436/18723 | 1.40e-11 | 1.04e-09 | 132 |
GO:002261213 | Prostate | Tumor | gland morphogenesis | 47/3246 | 118/18723 | 6.18e-09 | 2.42e-07 | 47 |
GO:000176314 | Prostate | Tumor | morphogenesis of a branching structure | 62/3246 | 196/18723 | 6.78e-07 | 1.39e-05 | 62 |
GO:006113813 | Prostate | Tumor | morphogenesis of a branching epithelium | 57/3246 | 182/18723 | 2.66e-06 | 4.45e-05 | 57 |
GO:00352721 | Prostate | Tumor | exocrine system development | 16/3246 | 45/18723 | 2.59e-03 | 1.43e-02 | 16 |
GO:00074311 | Prostate | Tumor | salivary gland development | 13/3246 | 34/18723 | 3.09e-03 | 1.63e-02 | 13 |
GO:00074351 | Prostate | Tumor | salivary gland morphogenesis | 12/3246 | 32/18723 | 5.30e-03 | 2.54e-02 | 12 |
GO:006068812 | Prostate | Tumor | regulation of morphogenesis of a branching structure | 16/3246 | 50/18723 | 8.34e-03 | 3.64e-02 | 16 |
GO:004873226 | Skin | AK | gland development | 93/1910 | 436/18723 | 3.24e-12 | 7.10e-10 | 93 |
GO:002261217 | Skin | AK | gland morphogenesis | 32/1910 | 118/18723 | 1.68e-07 | 7.09e-06 | 32 |
GO:000176310 | Skin | AK | morphogenesis of a branching structure | 37/1910 | 196/18723 | 1.67e-04 | 1.94e-03 | 37 |
GO:00611386 | Skin | AK | morphogenesis of a branching epithelium | 33/1910 | 182/18723 | 7.66e-04 | 6.39e-03 | 33 |
GO:20000275 | Skin | AK | regulation of animal organ morphogenesis | 23/1910 | 125/18723 | 3.72e-03 | 2.22e-02 | 23 |
GO:004873227 | Skin | cSCC | gland development | 167/4864 | 436/18723 | 7.64e-09 | 2.44e-07 | 167 |
GO:002261221 | Skin | cSCC | gland morphogenesis | 45/4864 | 118/18723 | 2.43e-03 | 1.39e-02 | 45 |
GO:0048732113 | Thyroid | PTC | gland development | 193/5968 | 436/18723 | 2.88e-08 | 6.42e-07 | 193 |
GO:000176316 | Thyroid | PTC | morphogenesis of a branching structure | 81/5968 | 196/18723 | 3.20e-03 | 1.57e-02 | 81 |
GO:002261219 | Thyroid | PTC | gland morphogenesis | 52/5968 | 118/18723 | 3.56e-03 | 1.72e-02 | 52 |
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 |
BTBD7 | SNV | Missense_Mutation | novel | c.2414N>A | p.Arg805Lys | p.R805K | Q9P203 | protein_coding | tolerated_low_confidence(0.24) | benign(0) | TCGA-3C-AALI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Poly E | Complete Response |
BTBD7 | SNV | Missense_Mutation | | c.3331G>A | p.Asp1111Asn | p.D1111N | Q9P203 | protein_coding | tolerated_low_confidence(0.08) | benign(0.18) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
BTBD7 | SNV | Missense_Mutation | rs146101449 | c.2072N>A | p.Arg691Gln | p.R691Q | Q9P203 | protein_coding | deleterious(0) | probably_damaging(0.978) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
BTBD7 | SNV | Missense_Mutation | | c.1853N>G | p.Ala618Gly | p.A618G | Q9P203 | protein_coding | tolerated(0.08) | probably_damaging(0.978) | TCGA-AN-A0FX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
BTBD7 | SNV | Missense_Mutation | | c.1462N>C | p.Ser488Arg | p.S488R | Q9P203 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-C8-A12P-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
BTBD7 | SNV | Missense_Mutation | | c.2995N>T | p.Pro999Ser | p.P999S | Q9P203 | protein_coding | tolerated_low_confidence(0.12) | benign(0.033) | TCGA-D8-A147-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine | SD |
BTBD7 | insertion | In_Frame_Ins | novel | c.815_816insCTCCCACAAGAATTATATTAG | p.Glu272delinsAspSerHisLysAsnTyrIleArg | p.E272delinsDSHKNYIR | Q9P203 | protein_coding | | | TCGA-A8-A09M-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | paclitaxel | CR |
BTBD7 | SNV | Missense_Mutation | rs61747488 | c.1075N>A | p.Ala359Thr | p.A359T | Q9P203 | protein_coding | tolerated(0.43) | benign(0.014) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
BTBD7 | SNV | Missense_Mutation | | c.2828N>T | p.Pro943Leu | p.P943L | Q9P203 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.998) | TCGA-EK-A2R7-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
BTBD7 | SNV | Missense_Mutation | | c.1765G>C | p.Glu589Gln | p.E589Q | Q9P203 | protein_coding | deleterious(0.02) | probably_damaging(0.979) | TCGA-IR-A3LK-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | PD |