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 |
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:0008380111 | Esophagus | ESCC | RNA splicing | 336/8552 | 434/18723 | 1.74e-42 | 3.67e-39 | 336 |
GO:0000375111 | Esophagus | ESCC | RNA splicing, via transesterification reactions | 248/8552 | 324/18723 | 3.05e-30 | 1.49e-27 | 248 |
GO:0000377111 | Esophagus | ESCC | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 244/8552 | 320/18723 | 2.52e-29 | 1.07e-26 | 244 |
GO:0000398111 | Esophagus | ESCC | mRNA splicing, via spliceosome | 244/8552 | 320/18723 | 2.52e-29 | 1.07e-26 | 244 |
GO:000838012 | Liver | Cirrhotic | RNA splicing | 229/4634 | 434/18723 | 9.13e-37 | 2.86e-33 | 229 |
GO:000037512 | Liver | Cirrhotic | RNA splicing, via transesterification reactions | 175/4634 | 324/18723 | 5.95e-30 | 7.47e-27 | 175 |
GO:000037712 | Liver | Cirrhotic | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 172/4634 | 320/18723 | 4.02e-29 | 3.60e-26 | 172 |
GO:000039812 | Liver | Cirrhotic | mRNA splicing, via spliceosome | 172/4634 | 320/18723 | 4.02e-29 | 3.60e-26 | 172 |
GO:000838022 | Liver | HCC | RNA splicing | 313/7958 | 434/18723 | 1.36e-36 | 1.73e-33 | 313 |
GO:000037522 | Liver | HCC | RNA splicing, via transesterification reactions | 228/7958 | 324/18723 | 1.47e-24 | 4.06e-22 | 228 |
GO:000037722 | Liver | HCC | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 224/7958 | 320/18723 | 1.16e-23 | 2.62e-21 | 224 |
GO:000039822 | Liver | HCC | mRNA splicing, via spliceosome | 224/7958 | 320/18723 | 1.16e-23 | 2.62e-21 | 224 |
GO:000838020 | Oral cavity | OSCC | RNA splicing | 308/7305 | 434/18723 | 2.43e-42 | 7.70e-39 | 308 |
GO:000037519 | Oral cavity | OSCC | RNA splicing, via transesterification reactions | 225/7305 | 324/18723 | 5.20e-29 | 2.99e-26 | 225 |
GO:000037719 | Oral cavity | OSCC | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 221/7305 | 320/18723 | 5.50e-28 | 2.18e-25 | 221 |
GO:000039819 | Oral cavity | OSCC | mRNA splicing, via spliceosome | 221/7305 | 320/18723 | 5.50e-28 | 2.18e-25 | 221 |
GO:0008380110 | Oral cavity | LP | RNA splicing | 237/4623 | 434/18723 | 1.82e-41 | 3.79e-38 | 237 |
GO:0000375110 | Oral cavity | LP | RNA splicing, via transesterification reactions | 181/4623 | 324/18723 | 1.36e-33 | 1.70e-30 | 181 |
GO:0000377110 | Oral cavity | LP | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 179/4623 | 320/18723 | 2.48e-33 | 2.22e-30 | 179 |
GO:0000398110 | Oral cavity | LP | mRNA splicing, via spliceosome | 179/4623 | 320/18723 | 2.48e-33 | 2.22e-30 | 179 |
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 |
MFAP1 | SNV | Missense_Mutation | | c.400G>A | p.Glu134Lys | p.E134K | P55081 | protein_coding | tolerated(0.12) | possibly_damaging(0.899) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
MFAP1 | SNV | Missense_Mutation | | c.757N>C | p.Glu253Gln | p.E253Q | P55081 | protein_coding | tolerated(0.18) | benign(0.406) | TCGA-AN-A0XW-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
MFAP1 | SNV | Missense_Mutation | rs867192002 | c.242N>T | p.Ser81Phe | p.S81F | P55081 | protein_coding | deleterious(0.05) | benign(0.094) | TCGA-BH-A0H5-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | CR |
MFAP1 | SNV | Missense_Mutation | | c.640N>C | p.Glu214Gln | p.E214Q | P55081 | protein_coding | deleterious(0.04) | possibly_damaging(0.869) | TCGA-D8-A1JA-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD |
MFAP1 | SNV | Missense_Mutation | novel | c.764A>G | p.Asn255Ser | p.N255S | P55081 | protein_coding | tolerated(0.64) | benign(0.069) | TCGA-E2-A14U-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
MFAP1 | SNV | Missense_Mutation | novel | c.1288N>T | p.Arg430Trp | p.R430W | P55081 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
MFAP1 | SNV | Missense_Mutation | novel | c.550N>A | p.Glu184Lys | p.E184K | P55081 | protein_coding | tolerated(0.12) | probably_damaging(0.973) | TCGA-C5-A8YR-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |
MFAP1 | SNV | Missense_Mutation | novel | c.913N>A | p.Glu305Lys | p.E305K | P55081 | protein_coding | deleterious(0.01) | probably_damaging(0.983) | TCGA-C5-A902-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
MFAP1 | SNV | Missense_Mutation | | c.892N>A | p.Glu298Lys | p.E298K | P55081 | protein_coding | tolerated(0.07) | possibly_damaging(0.723) | TCGA-EK-A2RA-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
MFAP1 | SNV | Missense_Mutation | | c.817G>A | p.Glu273Lys | p.E273K | P55081 | protein_coding | deleterious(0) | probably_damaging(0.936) | TCGA-EK-A3GK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |