Tissue | Expression Dynamics | Abbreviation |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Oral Cavity | | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
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:009758121 | Liver | HCC | lamellipodium organization | 58/7958 | 90/18723 | 2.16e-05 | 2.30e-04 | 58 |
GO:190274521 | Liver | HCC | positive regulation of lamellipodium organization | 28/7958 | 37/18723 | 4.26e-05 | 4.16e-04 | 28 |
GO:190274321 | Liver | HCC | regulation of lamellipodium organization | 36/7958 | 54/18723 | 2.88e-04 | 2.07e-03 | 36 |
GO:003424921 | Liver | HCC | negative regulation of cellular amide metabolic process | 144/7958 | 273/18723 | 3.80e-04 | 2.61e-03 | 144 |
GO:001072011 | Liver | HCC | positive regulation of cell development | 155/7958 | 298/18723 | 5.39e-04 | 3.48e-03 | 155 |
GO:00310992 | Liver | HCC | regeneration | 107/7958 | 198/18723 | 6.67e-04 | 4.12e-03 | 107 |
GO:001714821 | Liver | HCC | negative regulation of translation | 129/7958 | 245/18723 | 8.14e-04 | 4.87e-03 | 129 |
GO:001059221 | Liver | HCC | positive regulation of lamellipodium assembly | 21/7958 | 29/18723 | 1.07e-03 | 6.16e-03 | 21 |
GO:003003221 | Liver | HCC | lamellipodium assembly | 44/7958 | 72/18723 | 1.10e-03 | 6.32e-03 | 44 |
GO:006049112 | Liver | HCC | regulation of cell projection assembly | 101/7958 | 188/18723 | 1.20e-03 | 6.69e-03 | 101 |
GO:012003212 | Liver | HCC | regulation of plasma membrane bounded cell projection assembly | 100/7958 | 186/18723 | 1.23e-03 | 6.81e-03 | 100 |
GO:001097511 | Liver | HCC | regulation of neuron projection development | 220/7958 | 445/18723 | 1.68e-03 | 8.78e-03 | 220 |
GO:0010976 | Liver | HCC | positive regulation of neuron projection development | 88/7958 | 163/18723 | 1.98e-03 | 1.00e-02 | 88 |
GO:00507674 | Liver | HCC | regulation of neurogenesis | 181/7958 | 364/18723 | 3.00e-03 | 1.40e-02 | 181 |
GO:0060999 | Liver | HCC | positive regulation of dendritic spine development | 27/7958 | 42/18723 | 3.60e-03 | 1.60e-02 | 27 |
GO:00507693 | Liver | HCC | positive regulation of neurogenesis | 116/7958 | 225/18723 | 3.67e-03 | 1.63e-02 | 116 |
GO:01200344 | Liver | HCC | positive regulation of plasma membrane bounded cell projection assembly | 58/7958 | 105/18723 | 5.66e-03 | 2.36e-02 | 58 |
GO:001059111 | Liver | HCC | regulation of lamellipodium assembly | 26/7958 | 42/18723 | 8.76e-03 | 3.41e-02 | 26 |
GO:006099611 | Liver | HCC | dendritic spine development | 54/7958 | 99/18723 | 1.03e-02 | 3.86e-02 | 54 |
GO:0050775 | Liver | HCC | positive regulation of dendrite morphogenesis | 23/7958 | 37/18723 | 1.25e-02 | 4.53e-02 | 23 |
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 |
RIN1 | SNV | Missense_Mutation | novel | c.1624N>G | p.Leu542Val | p.L542V | Q13671 | protein_coding | tolerated(0.46) | benign(0.19) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
RIN1 | SNV | Missense_Mutation | novel | c.2022N>A | p.Phe674Leu | p.F674L | Q13671 | protein_coding | deleterious(0) | probably_damaging(0.93) | TCGA-A1-A0SE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RIN1 | SNV | Missense_Mutation | | c.73C>G | p.Leu25Val | p.L25V | Q13671 | protein_coding | tolerated_low_confidence(0.1) | benign(0.069) | TCGA-A7-A0DA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
RIN1 | SNV | Missense_Mutation | novel | c.1291G>A | p.Val431Ile | p.V431I | Q13671 | protein_coding | tolerated(0.24) | benign(0.005) | TCGA-AO-A03V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | fluorouracil | SD |
RIN1 | SNV | Missense_Mutation | | c.803N>G | p.Pro268Arg | p.P268R | Q13671 | protein_coding | deleterious(0.02) | probably_damaging(0.999) | TCGA-D8-A27T-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicine+cyclophosphamide | SD |
RIN1 | SNV | Missense_Mutation | rs62619978 | c.2245N>T | p.Arg749Trp | p.R749W | Q13671 | protein_coding | deleterious_low_confidence(0.03) | benign(0.183) | TCGA-E9-A1RF-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | tamoxiphen | SD |
RIN1 | insertion | Nonsense_Mutation | novel | c.1822_1823insCATAGCTGCATCCAAAAGAGGCCCAGGTCATCTAACCTAAGGAGAAT | p.Arg608ProfsTer2 | p.R608Pfs*2 | Q13671 | protein_coding | | | TCGA-A2-A0CP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
RIN1 | insertion | Frame_Shift_Ins | novel | c.1770_1771insACTTGTTTTTGCTTCTCCTCCTGCATAGCACCTCCTCCGAGTAG | p.Gly591ThrfsTer25 | p.G591Tfs*25 | Q13671 | protein_coding | | | TCGA-A8-A07R-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Ancillary | zoledronic | SD |
RIN1 | insertion | Nonsense_Mutation | novel | c.1770_1771insAATAGGACCTACCTCCTGGGGTTGAGGTGAAGATTAAATG | p.Gly591AsnfsTer10 | p.G591Nfs*10 | Q13671 | protein_coding | | | TCGA-AQ-A04J-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
RIN1 | SNV | Missense_Mutation | novel | c.1922N>T | p.Ser641Phe | p.S641F | Q13671 | protein_coding | deleterious(0) | probably_damaging(0.978) | TCGA-C5-A7X5-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | carboplatin | PD |