Tissue | Expression Dynamics | Abbreviation |
Colorectum (GSE201348) | | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Endometrium | | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Liver | | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Oral Cavity | | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Prostate | | BPH: Benign Prostatic Hyperplasia |
Skin | | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
Thyroid | | 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:003297018 | Prostate | BPH | regulation of actin filament-based process | 133/3107 | 397/18723 | 7.07e-17 | 1.62e-14 | 133 |
GO:190382918 | Prostate | BPH | positive regulation of cellular protein localization | 98/3107 | 276/18723 | 1.46e-14 | 1.84e-12 | 98 |
GO:003295618 | Prostate | BPH | regulation of actin cytoskeleton organization | 118/3107 | 358/18723 | 1.51e-14 | 1.87e-12 | 118 |
GO:004819310 | Prostate | BPH | Golgi vesicle transport | 102/3107 | 296/18723 | 3.90e-14 | 4.56e-12 | 102 |
GO:004325418 | Prostate | BPH | regulation of protein-containing complex assembly | 133/3107 | 428/18723 | 5.40e-14 | 6.08e-12 | 133 |
GO:011005318 | Prostate | BPH | regulation of actin filament organization | 96/3107 | 278/18723 | 1.90e-13 | 1.89e-11 | 96 |
GO:005125818 | Prostate | BPH | protein polymerization | 96/3107 | 297/18723 | 1.52e-11 | 1.10e-09 | 96 |
GO:003227118 | Prostate | BPH | regulation of protein polymerization | 80/3107 | 233/18723 | 2.67e-11 | 1.78e-09 | 80 |
GO:007265916 | Prostate | BPH | protein localization to plasma membrane | 89/3107 | 284/18723 | 5.00e-10 | 2.56e-08 | 89 |
GO:000815416 | Prostate | BPH | actin polymerization or depolymerization | 72/3107 | 218/18723 | 1.82e-09 | 7.59e-08 | 72 |
GO:002241117 | Prostate | BPH | cellular component disassembly | 121/3107 | 443/18723 | 6.34e-09 | 2.25e-07 | 121 |
GO:003253517 | Prostate | BPH | regulation of cellular component size | 108/3107 | 383/18723 | 6.41e-09 | 2.27e-07 | 108 |
GO:003004116 | Prostate | BPH | actin filament polymerization | 63/3107 | 191/18723 | 1.94e-08 | 5.98e-07 | 63 |
GO:199077810 | Prostate | BPH | protein localization to cell periphery | 95/3107 | 333/18723 | 2.78e-08 | 8.13e-07 | 95 |
GO:000806415 | Prostate | BPH | regulation of actin polymerization or depolymerization | 61/3107 | 188/18723 | 6.37e-08 | 1.68e-06 | 61 |
GO:003083316 | Prostate | BPH | regulation of actin filament polymerization | 57/3107 | 172/18723 | 7.52e-08 | 1.92e-06 | 57 |
GO:003083210 | Prostate | BPH | regulation of actin filament length | 61/3107 | 189/18723 | 7.89e-08 | 2.00e-06 | 61 |
GO:009015016 | Prostate | BPH | establishment of protein localization to membrane | 77/3107 | 260/18723 | 1.06e-07 | 2.56e-06 | 77 |
GO:190290410 | Prostate | BPH | negative regulation of supramolecular fiber organization | 55/3107 | 167/18723 | 1.60e-07 | 3.63e-06 | 55 |
GO:00009109 | Prostate | BPH | cytokinesis | 55/3107 | 173/18723 | 5.81e-07 | 1.15e-05 | 55 |
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 |
SPTBN1 | SNV | Missense_Mutation | | c.4936G>A | p.Glu1646Lys | p.E1646K | Q01082 | protein_coding | tolerated(0.26) | benign(0.035) | TCGA-A1-A0SH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | tc | SD |
SPTBN1 | SNV | Missense_Mutation | | c.124C>T | p.Arg42Trp | p.R42W | Q01082 | protein_coding | deleterious(0.02) | probably_damaging(0.999) | TCGA-A2-A0YT-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | arimidex | SD |
SPTBN1 | SNV | Missense_Mutation | | c.3680N>G | p.Ala1227Gly | p.A1227G | Q01082 | protein_coding | tolerated(0.9) | benign(0.006) | TCGA-AO-A124-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
SPTBN1 | SNV | Missense_Mutation | novel | c.3749N>G | p.Val1250Gly | p.V1250G | Q01082 | protein_coding | tolerated(0.05) | benign(0.315) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
SPTBN1 | SNV | Missense_Mutation | rs761483604 | c.4454N>G | p.Lys1485Arg | p.K1485R | Q01082 | protein_coding | tolerated(0.23) | benign(0.181) | TCGA-B6-A400-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
SPTBN1 | SNV | Missense_Mutation | | c.6431N>T | p.Thr2144Met | p.T2144M | Q01082 | protein_coding | tolerated(0.1) | benign(0.068) | TCGA-BH-A0HP-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | doxorubicin | SD |
SPTBN1 | SNV | Missense_Mutation | | c.3180G>C | p.Glu1060Asp | p.E1060D | Q01082 | protein_coding | tolerated(0.08) | possibly_damaging(0.737) | TCGA-BH-A18T-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
SPTBN1 | SNV | Missense_Mutation | novel | c.4960N>C | p.Thr1654Pro | p.T1654P | Q01082 | protein_coding | deleterious(0.04) | possibly_damaging(0.511) | TCGA-BH-A1F8-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD |
SPTBN1 | SNV | Missense_Mutation | | c.1325N>C | p.Gln442Pro | p.Q442P | Q01082 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD |
SPTBN1 | insertion | Frame_Shift_Ins | novel | c.5112_5113insTGGAGAATCAGATGGAAGTG | p.Arg1705TrpfsTer163 | p.R1705Wfs*163 | Q01082 | protein_coding | | | TCGA-A2-A0EY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |