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 |
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:0043409 | Colorectum | AD | negative regulation of MAPK cascade | 57/3918 | 180/18723 | 4.61e-04 | 5.14e-03 | 57 |
GO:0007178 | Colorectum | AD | transmembrane receptor protein serine/threonine kinase signaling pathway | 99/3918 | 355/18723 | 9.92e-04 | 9.28e-03 | 99 |
GO:00434091 | Colorectum | SER | negative regulation of MAPK cascade | 45/2897 | 180/18723 | 5.81e-04 | 7.98e-03 | 45 |
GO:00434092 | Colorectum | MSS | negative regulation of MAPK cascade | 50/3467 | 180/18723 | 1.45e-03 | 1.35e-02 | 50 |
GO:00071781 | Colorectum | MSS | transmembrane receptor protein serine/threonine kinase signaling pathway | 86/3467 | 355/18723 | 4.04e-03 | 2.95e-02 | 86 |
GO:000699713 | Esophagus | ESCC | nucleus organization | 96/8552 | 133/18723 | 4.66e-10 | 1.21e-08 | 96 |
GO:003450211 | Esophagus | ESCC | protein localization to chromosome | 70/8552 | 92/18723 | 2.54e-09 | 5.64e-08 | 70 |
GO:000699811 | Esophagus | ESCC | nuclear envelope organization | 39/8552 | 47/18723 | 1.48e-07 | 2.35e-06 | 39 |
GO:000717810 | Esophagus | ESCC | transmembrane receptor protein serine/threonine kinase signaling pathway | 195/8552 | 355/18723 | 2.58e-04 | 1.58e-03 | 195 |
GO:0043409110 | Esophagus | ESCC | negative regulation of MAPK cascade | 105/8552 | 180/18723 | 4.13e-04 | 2.35e-03 | 105 |
GO:006053716 | Esophagus | ESCC | muscle tissue development | 211/8552 | 403/18723 | 3.84e-03 | 1.56e-02 | 211 |
GO:0071168 | Esophagus | ESCC | protein localization to chromatin | 21/8552 | 31/18723 | 1.10e-02 | 3.70e-02 | 21 |
GO:001470615 | Esophagus | ESCC | striated muscle tissue development | 197/8552 | 384/18723 | 1.46e-02 | 4.74e-02 | 197 |
GO:00069971 | Liver | HCC | nucleus organization | 82/7958 | 133/18723 | 6.32e-06 | 7.72e-05 | 82 |
GO:0006998 | Liver | HCC | nuclear envelope organization | 34/7958 | 47/18723 | 3.27e-05 | 3.29e-04 | 34 |
GO:00345021 | Liver | HCC | protein localization to chromosome | 55/7958 | 92/18723 | 6.12e-04 | 3.82e-03 | 55 |
GO:00434097 | Liver | HCC | negative regulation of MAPK cascade | 98/7958 | 180/18723 | 7.88e-04 | 4.74e-03 | 98 |
GO:00069974 | Oral cavity | OSCC | nucleus organization | 85/7305 | 133/18723 | 5.12e-09 | 1.12e-07 | 85 |
GO:00069982 | Oral cavity | OSCC | nuclear envelope organization | 37/7305 | 47/18723 | 3.19e-08 | 6.12e-07 | 37 |
GO:004340917 | Oral cavity | OSCC | negative regulation of MAPK cascade | 105/7305 | 180/18723 | 1.10e-07 | 1.87e-06 | 105 |
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 |
LEMD2 | SNV | Missense_Mutation | novel | c.1003G>A | p.Gly335Ser | p.G335S | Q8NC56 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A7-A4SE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |
LEMD2 | SNV | Missense_Mutation | | c.1453G>C | p.Glu485Gln | p.E485Q | Q8NC56 | protein_coding | deleterious(0.01) | probably_damaging(0.996) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
LEMD2 | SNV | Missense_Mutation | | c.815T>C | p.Leu272Pro | p.L272P | Q8NC56 | protein_coding | deleterious(0) | possibly_damaging(0.757) | TCGA-E2-A14R-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | PD |
LEMD2 | insertion | In_Frame_Ins | novel | c.1008_1009insATGTTG | p.Ile336_Trp337insMetLeu | p.I336_W337insML | Q8NC56 | protein_coding | | | TCGA-A2-A0CU-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
LEMD2 | insertion | In_Frame_Ins | novel | c.1006_1007insAGAATGATGACACTCACCTTT | p.Ile336delinsLysAsnAspAspThrHisLeuPhe | p.I336delinsKNDDTHLF | Q8NC56 | protein_coding | | | TCGA-A2-A0CU-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
LEMD2 | insertion | In_Frame_Ins | novel | c.1182_1183insGAAATTAGAACAAGTGAA | p.Leu394_Ile395insGluIleArgThrSerGlu | p.L394_I395insEIRTSE | Q8NC56 | protein_coding | | | TCGA-AN-A0FW-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
LEMD2 | SNV | Missense_Mutation | novel | c.1261N>C | p.Val421Leu | p.V421L | Q8NC56 | protein_coding | deleterious(0.01) | possibly_damaging(0.769) | TCGA-C5-A1MH-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | PD |
LEMD2 | SNV | Missense_Mutation | | c.1057G>A | p.Val353Met | p.V353M | Q8NC56 | protein_coding | deleterious(0) | possibly_damaging(0.867) | TCGA-Q1-A73O-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
LEMD2 | SNV | Missense_Mutation | rs768891530 | c.1103N>A | p.Arg368His | p.R368H | Q8NC56 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-CK-6746-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
LEMD2 | SNV | Missense_Mutation | | c.965N>T | p.Ala322Val | p.A322V | Q8NC56 | protein_coding | tolerated(0.38) | possibly_damaging(0.562) | TCGA-AP-A0LP-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Hormone Therapy | megace | SD |