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:1902903210 | Thyroid | ATC | regulation of supramolecular fiber organization | 210/6293 | 383/18723 | 6.20e-18 | 7.54e-16 | 210 |
GO:0043254210 | Thyroid | ATC | regulation of protein-containing complex assembly | 225/6293 | 428/18723 | 2.72e-16 | 2.33e-14 | 225 |
GO:0032970210 | Thyroid | ATC | regulation of actin filament-based process | 208/6293 | 397/18723 | 5.82e-15 | 3.80e-13 | 208 |
GO:0007015210 | Thyroid | ATC | actin filament organization | 227/6293 | 442/18723 | 5.96e-15 | 3.85e-13 | 227 |
GO:0032956210 | Thyroid | ATC | regulation of actin cytoskeleton organization | 190/6293 | 358/18723 | 1.73e-14 | 1.01e-12 | 190 |
GO:005125829 | Thyroid | ATC | protein polymerization | 159/6293 | 297/18723 | 9.33e-13 | 3.96e-11 | 159 |
GO:0110053210 | Thyroid | ATC | regulation of actin filament organization | 150/6293 | 278/18723 | 1.82e-12 | 7.58e-11 | 150 |
GO:001063926 | Thyroid | ATC | negative regulation of organelle organization | 179/6293 | 348/18723 | 3.74e-12 | 1.50e-10 | 179 |
GO:003253526 | Thyroid | ATC | regulation of cellular component size | 191/6293 | 383/18723 | 2.51e-11 | 8.69e-10 | 191 |
GO:003227129 | Thyroid | ATC | regulation of protein polymerization | 127/6293 | 233/18723 | 3.64e-11 | 1.20e-09 | 127 |
GO:0008154111 | Thyroid | ATC | actin polymerization or depolymerization | 119/6293 | 218/18723 | 1.32e-10 | 4.08e-09 | 119 |
GO:0070997210 | Thyroid | ATC | neuron death | 176/6293 | 361/18723 | 1.43e-09 | 3.57e-08 | 176 |
GO:190121629 | Thyroid | ATC | positive regulation of neuron death | 61/6293 | 97/18723 | 3.34e-09 | 7.77e-08 | 61 |
GO:1905475111 | Thyroid | ATC | regulation of protein localization to membrane | 96/6293 | 175/18723 | 5.55e-09 | 1.22e-07 | 96 |
GO:190121428 | Thyroid | ATC | regulation of neuron death | 156/6293 | 319/18723 | 9.30e-09 | 1.96e-07 | 156 |
GO:0008064111 | Thyroid | ATC | regulation of actin polymerization or depolymerization | 101/6293 | 188/18723 | 9.88e-09 | 2.05e-07 | 101 |
GO:0030832111 | Thyroid | ATC | regulation of actin filament length | 101/6293 | 189/18723 | 1.43e-08 | 2.92e-07 | 101 |
GO:0030041111 | Thyroid | ATC | actin filament polymerization | 101/6293 | 191/18723 | 2.91e-08 | 5.50e-07 | 101 |
GO:0030833110 | Thyroid | ATC | regulation of actin filament polymerization | 91/6293 | 172/18723 | 1.34e-07 | 2.20e-06 | 91 |
GO:1905477111 | Thyroid | ATC | positive regulation of protein localization to membrane | 58/6293 | 106/18723 | 6.14e-06 | 6.42e-05 | 58 |
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 |