Tissue | Expression Dynamics | Abbreviation |
Liver | | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Lung | | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
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 |
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:000647023 | Oral cavity | EOLP | protein dephosphorylation | 72/2218 | 281/18723 | 1.19e-10 | 1.35e-08 | 72 |
GO:005125825 | Oral cavity | EOLP | protein polymerization | 74/2218 | 297/18723 | 2.65e-10 | 2.45e-08 | 74 |
GO:003295626 | Oral cavity | EOLP | regulation of actin cytoskeleton organization | 84/2218 | 358/18723 | 4.24e-10 | 3.65e-08 | 84 |
GO:003253523 | Oral cavity | EOLP | regulation of cellular component size | 83/2218 | 383/18723 | 2.73e-08 | 1.12e-06 | 83 |
GO:011005326 | Oral cavity | EOLP | regulation of actin filament organization | 65/2218 | 278/18723 | 4.55e-08 | 1.72e-06 | 65 |
GO:190382925 | Oral cavity | EOLP | positive regulation of cellular protein localization | 63/2218 | 276/18723 | 1.84e-07 | 5.87e-06 | 63 |
GO:000815424 | Oral cavity | EOLP | actin polymerization or depolymerization | 53/2218 | 218/18723 | 2.08e-07 | 6.55e-06 | 53 |
GO:003004123 | Oral cavity | EOLP | actin filament polymerization | 48/2218 | 191/18723 | 2.68e-07 | 8.16e-06 | 48 |
GO:001631114 | Oral cavity | EOLP | dephosphorylation | 85/2218 | 417/18723 | 3.19e-07 | 9.47e-06 | 85 |
GO:000806422 | Oral cavity | EOLP | regulation of actin polymerization or depolymerization | 47/2218 | 188/18723 | 4.19e-07 | 1.19e-05 | 47 |
GO:003083324 | Oral cavity | EOLP | regulation of actin filament polymerization | 44/2218 | 172/18723 | 4.90e-07 | 1.34e-05 | 44 |
GO:003083222 | Oral cavity | EOLP | regulation of actin filament length | 47/2218 | 189/18723 | 4.95e-07 | 1.34e-05 | 47 |
GO:003133324 | Oral cavity | EOLP | negative regulation of protein-containing complex assembly | 37/2218 | 141/18723 | 2.01e-06 | 4.57e-05 | 37 |
GO:007099726 | Oral cavity | EOLP | neuron death | 70/2218 | 361/18723 | 2.01e-05 | 3.18e-04 | 70 |
GO:001063923 | Oral cavity | EOLP | negative regulation of organelle organization | 67/2218 | 348/18723 | 3.78e-05 | 5.21e-04 | 67 |
GO:190290424 | Oral cavity | EOLP | negative regulation of supramolecular fiber organization | 37/2218 | 167/18723 | 1.14e-04 | 1.27e-03 | 37 |
GO:190121423 | Oral cavity | EOLP | regulation of neuron death | 60/2218 | 319/18723 | 1.83e-04 | 1.87e-03 | 60 |
GO:003227216 | Oral cavity | EOLP | negative regulation of protein polymerization | 20/2218 | 80/18723 | 8.40e-04 | 6.56e-03 | 20 |
GO:190547523 | Oral cavity | EOLP | regulation of protein localization to membrane | 35/2218 | 175/18723 | 1.26e-03 | 9.04e-03 | 35 |
GO:00149104 | Oral cavity | EOLP | regulation of smooth muscle cell migration | 21/2218 | 89/18723 | 1.40e-03 | 9.58e-03 | 21 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0481010 | Liver | NAFLD | Regulation of actin cytoskeleton | 50/1043 | 229/8465 | 3.01e-05 | 7.59e-04 | 6.11e-04 | 50 |
hsa0481011 | Liver | NAFLD | Regulation of actin cytoskeleton | 50/1043 | 229/8465 | 3.01e-05 | 7.59e-04 | 6.11e-04 | 50 |
hsa0481041 | Liver | HCC | Regulation of actin cytoskeleton | 134/4020 | 229/8465 | 4.48e-04 | 1.94e-03 | 1.08e-03 | 134 |
hsa0481051 | Liver | HCC | Regulation of actin cytoskeleton | 134/4020 | 229/8465 | 4.48e-04 | 1.94e-03 | 1.08e-03 | 134 |
hsa0481026 | Oral cavity | OSCC | Regulation of actin cytoskeleton | 129/3704 | 229/8465 | 7.14e-05 | 2.74e-04 | 1.40e-04 | 129 |
hsa0436014 | Oral cavity | OSCC | Axon guidance | 97/3704 | 182/8465 | 5.59e-03 | 1.33e-02 | 6.76e-03 | 97 |
hsa04810111 | Oral cavity | OSCC | Regulation of actin cytoskeleton | 129/3704 | 229/8465 | 7.14e-05 | 2.74e-04 | 1.40e-04 | 129 |
hsa0436015 | Oral cavity | OSCC | Axon guidance | 97/3704 | 182/8465 | 5.59e-03 | 1.33e-02 | 6.76e-03 | 97 |
hsa0481027 | Oral cavity | EOLP | Regulation of actin cytoskeleton | 50/1218 | 229/8465 | 1.34e-03 | 4.80e-03 | 2.83e-03 | 50 |
hsa0436023 | Oral cavity | EOLP | Axon guidance | 38/1218 | 182/8465 | 1.02e-02 | 2.80e-02 | 1.65e-02 | 38 |
hsa0481036 | Oral cavity | EOLP | Regulation of actin cytoskeleton | 50/1218 | 229/8465 | 1.34e-03 | 4.80e-03 | 2.83e-03 | 50 |
hsa0436033 | Oral cavity | EOLP | Axon guidance | 38/1218 | 182/8465 | 1.02e-02 | 2.80e-02 | 1.65e-02 | 38 |
hsa0481043 | Oral cavity | NEOLP | Regulation of actin cytoskeleton | 55/1112 | 229/8465 | 4.12e-06 | 3.86e-05 | 2.42e-05 | 55 |
hsa0436041 | Oral cavity | NEOLP | Axon guidance | 37/1112 | 182/8465 | 4.02e-03 | 1.64e-02 | 1.03e-02 | 37 |
hsa0481053 | Oral cavity | NEOLP | Regulation of actin cytoskeleton | 55/1112 | 229/8465 | 4.12e-06 | 3.86e-05 | 2.42e-05 | 55 |
hsa0436051 | Oral cavity | NEOLP | Axon guidance | 37/1112 | 182/8465 | 4.02e-03 | 1.64e-02 | 1.03e-02 | 37 |
hsa0481020 | Prostate | BPH | Regulation of actin cytoskeleton | 80/1718 | 229/8465 | 1.23e-07 | 1.31e-06 | 8.10e-07 | 80 |
hsa04810110 | Prostate | BPH | Regulation of actin cytoskeleton | 80/1718 | 229/8465 | 1.23e-07 | 1.31e-06 | 8.10e-07 | 80 |
hsa0481025 | Prostate | Tumor | Regulation of actin cytoskeleton | 84/1791 | 229/8465 | 3.40e-08 | 4.17e-07 | 2.58e-07 | 84 |
hsa0481035 | Prostate | Tumor | Regulation of actin cytoskeleton | 84/1791 | 229/8465 | 3.40e-08 | 4.17e-07 | 2.58e-07 | 84 |
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 |
SSH1 | SNV | Missense_Mutation | | c.1652N>G | p.His551Arg | p.H551R | Q8WYL5 | protein_coding | tolerated_low_confidence(0.44) | benign(0) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SSH1 | SNV | Missense_Mutation | novel | c.2216G>T | p.Ser739Ile | p.S739I | Q8WYL5 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.454) | TCGA-AN-A0FV-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SSH1 | SNV | Missense_Mutation | rs774943975 | c.794N>A | p.Ser265Asn | p.S265N | Q8WYL5 | protein_coding | deleterious(0.01) | possibly_damaging(0.588) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
SSH1 | SNV | Missense_Mutation | novel | c.2170N>A | p.Asp724Asn | p.D724N | Q8WYL5 | protein_coding | deleterious_low_confidence(0.02) | benign(0.056) | TCGA-BH-A0HP-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | doxorubicin | SD |
SSH1 | insertion | Frame_Shift_Ins | novel | c.3074_3075insGCTCCCACCGTGTCTTCAAGAAGAACCATGTTTTAGG | p.Ala1026LeufsTer68 | p.A1026Lfs*68 | Q8WYL5 | protein_coding | | | TCGA-A2-A0T2-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | xeloda | PD |
SSH1 | insertion | Nonsense_Mutation | novel | c.1217_1218insTTTTTAAAAC | p.Tyr407PhefsTer2 | p.Y407Ffs*2 | Q8WYL5 | protein_coding | | | TCGA-A8-A06O-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | letrozole | SD |
SSH1 | insertion | In_Frame_Ins | novel | c.1215_1216insAACAAAAAT | p.Ile405_Ala406insAsnLysAsn | p.I405_A406insNKN | Q8WYL5 | protein_coding | | | TCGA-A8-A06O-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | letrozole | SD |
SSH1 | insertion | Frame_Shift_Ins | novel | c.2082_2083insAGGCTTCTGTTCAGTAATGAATCTGAGAA | p.Ala695ArgfsTer50 | p.A695Rfs*50 | Q8WYL5 | protein_coding | | | TCGA-A8-A08H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SSH1 | insertion | Frame_Shift_Ins | novel | c.2048_2049insC | p.Pro684ThrfsTer80 | p.P684Tfs*80 | Q8WYL5 | protein_coding | | | TCGA-BH-A0AY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | | SD |
SSH1 | insertion | Nonsense_Mutation | novel | c.2046_2047insATGGCCCTGTAGGAAGAAACTGGGTAAATGTGAAGCC | p.Leu683MetfsTer4 | p.L683Mfs*4 | Q8WYL5 | protein_coding | | | TCGA-BH-A0AY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | | SD |