Tissue | Expression Dynamics | Abbreviation |
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 |
Skin | | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0090150110 | Esophagus | ESCC | establishment of protein localization to membrane | 182/8552 | 260/18723 | 1.27e-15 | 8.19e-14 | 182 |
GO:000702914 | Esophagus | ESCC | endoplasmic reticulum organization | 65/8552 | 87/18723 | 3.28e-08 | 6.08e-07 | 65 |
GO:005120515 | Esophagus | ESCC | protein insertion into membrane | 46/8552 | 57/18723 | 5.90e-08 | 1.04e-06 | 46 |
GO:004504812 | Esophagus | ESCC | protein insertion into ER membrane | 21/8552 | 22/18723 | 8.75e-07 | 1.13e-05 | 21 |
GO:007181611 | Esophagus | ESCC | tail-anchored membrane protein insertion into ER membrane | 17/8552 | 17/18723 | 1.63e-06 | 1.95e-05 | 17 |
GO:00450503 | Esophagus | ESCC | protein insertion into ER membrane by stop-transfer membrane-anchor sequence | 10/8552 | 10/18723 | 3.94e-04 | 2.26e-03 | 10 |
GO:009015012 | Liver | HCC | establishment of protein localization to membrane | 168/7958 | 260/18723 | 4.07e-13 | 2.13e-11 | 168 |
GO:000702911 | Liver | HCC | endoplasmic reticulum organization | 64/7958 | 87/18723 | 3.92e-09 | 1.04e-07 | 64 |
GO:005120511 | Liver | HCC | protein insertion into membrane | 41/7958 | 57/18723 | 6.42e-06 | 7.83e-05 | 41 |
GO:0071816 | Liver | HCC | tail-anchored membrane protein insertion into ER membrane | 15/7958 | 17/18723 | 1.31e-04 | 1.07e-03 | 15 |
GO:00450481 | Liver | HCC | protein insertion into ER membrane | 18/7958 | 22/18723 | 1.91e-04 | 1.49e-03 | 18 |
GO:0045050 | Liver | HCC | protein insertion into ER membrane by stop-transfer membrane-anchor sequence | 10/7958 | 10/18723 | 1.92e-04 | 1.49e-03 | 10 |
GO:009015018 | Oral cavity | OSCC | establishment of protein localization to membrane | 163/7305 | 260/18723 | 7.13e-15 | 4.47e-13 | 163 |
GO:00070294 | Oral cavity | OSCC | endoplasmic reticulum organization | 58/7305 | 87/18723 | 1.59e-07 | 2.61e-06 | 58 |
GO:00512056 | Oral cavity | OSCC | protein insertion into membrane | 40/7305 | 57/18723 | 1.81e-06 | 2.34e-05 | 40 |
GO:00450502 | Oral cavity | OSCC | protein insertion into ER membrane by stop-transfer membrane-anchor sequence | 10/7305 | 10/18723 | 8.14e-05 | 6.26e-04 | 10 |
GO:00450482 | Oral cavity | OSCC | protein insertion into ER membrane | 17/7305 | 22/18723 | 2.99e-04 | 1.87e-03 | 17 |
GO:00718162 | Oral cavity | OSCC | tail-anchored membrane protein insertion into ER membrane | 14/7305 | 17/18723 | 3.31e-04 | 2.04e-03 | 14 |
GO:009015024 | Skin | cSCC | establishment of protein localization to membrane | 123/4864 | 260/18723 | 8.34e-14 | 5.18e-12 | 123 |
GO:00512058 | Skin | cSCC | protein insertion into membrane | 34/4864 | 57/18723 | 8.07e-08 | 1.96e-06 | 34 |
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 |
EMC9 | SNV | Missense_Mutation | | c.39N>C | p.Lys13Asn | p.K13N | Q9Y3B6 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
EMC9 | SNV | Missense_Mutation | novel | c.393N>G | p.Ile131Met | p.I131M | Q9Y3B6 | protein_coding | tolerated(0.22) | probably_damaging(0.982) | TCGA-BH-A0E2-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
EMC9 | SNV | Missense_Mutation | | c.271N>G | p.Gln91Glu | p.Q91E | Q9Y3B6 | protein_coding | tolerated(0.7) | benign(0.062) | TCGA-D8-A1XQ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
EMC9 | insertion | Nonsense_Mutation | novel | c.466_467insGTCCACATCCCCTGGTGGCTCTTGCACCACCGTAGCAGAGCC | p.Ser156delinsCysProHisProLeuValAlaLeuAlaProProTerGlnSerPro | p.S156delinsCPHPLVALAPP*QSP | Q9Y3B6 | protein_coding | | | TCGA-A2-A0CP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
EMC9 | insertion | Frame_Shift_Ins | novel | c.126_127insAACCAGCGGCTCAACACTCAAATCACCCAGTGGGTTGGTCCCA | p.Leu43AsnfsTer82 | p.L43Nfs*82 | Q9Y3B6 | protein_coding | | | TCGA-AN-A03X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
EMC9 | insertion | Nonsense_Mutation | novel | c.394_395insGTTGGTCCCACTAATGGAA | p.Val132GlyfsTer5 | p.V132Gfs*5 | Q9Y3B6 | protein_coding | | | TCGA-BH-A0E2-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
EMC9 | SNV | Missense_Mutation | | c.454N>A | p.Asp152Asn | p.D152N | Q9Y3B6 | protein_coding | tolerated(0.07) | benign(0.003) | TCGA-C5-A1M6-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
EMC9 | SNV | Missense_Mutation | | c.121N>A | p.Leu41Met | p.L41M | Q9Y3B6 | protein_coding | deleterious(0.04) | probably_damaging(0.925) | TCGA-D5-6928-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
EMC9 | SNV | Missense_Mutation | | c.566N>T | p.Gln189Leu | p.Q189L | Q9Y3B6 | protein_coding | tolerated(0.1) | possibly_damaging(0.673) | TCGA-G5-6233-01 | Colorectum | rectum adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | 5-fluorouracil | PD |
EMC9 | SNV | Missense_Mutation | rs779202856 | c.499N>T | p.Arg167Trp | p.R167W | Q9Y3B6 | protein_coding | deleterious(0) | possibly_damaging(0.636) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |