Tissue | Expression Dynamics | Abbreviation |
Breast | | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
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:00097919 | Esophagus | ESCC | post-embryonic development | 56/8552 | 80/18723 | 9.08e-06 | 8.71e-05 | 56 |
GO:00485687 | Esophagus | ESCC | embryonic organ development | 228/8552 | 427/18723 | 7.28e-04 | 3.79e-03 | 228 |
GO:01201624 | Esophagus | ESCC | positive regulation of cold-induced thermogenesis | 57/8552 | 97/18723 | 6.43e-03 | 2.35e-02 | 57 |
GO:00485694 | Esophagus | ESCC | post-embryonic animal organ development | 12/8552 | 15/18723 | 7.31e-03 | 2.63e-02 | 12 |
GO:01061066 | Esophagus | ESCC | cold-induced thermogenesis | 80/8552 | 144/18723 | 1.07e-02 | 3.65e-02 | 80 |
GO:01201616 | Esophagus | ESCC | regulation of cold-induced thermogenesis | 80/8552 | 144/18723 | 1.07e-02 | 3.65e-02 | 80 |
GO:010610611 | Liver | HCC | cold-induced thermogenesis | 76/7958 | 144/18723 | 8.07e-03 | 3.18e-02 | 76 |
GO:012016111 | Liver | HCC | regulation of cold-induced thermogenesis | 76/7958 | 144/18723 | 8.07e-03 | 3.18e-02 | 76 |
GO:199084511 | Liver | HCC | adaptive thermogenesis | 81/7958 | 157/18723 | 1.32e-02 | 4.72e-02 | 81 |
GO:00097918 | Oral cavity | OSCC | post-embryonic development | 51/7305 | 80/18723 | 6.43e-06 | 7.13e-05 | 51 |
GO:00485693 | Oral cavity | OSCC | post-embryonic animal organ development | 13/7305 | 15/18723 | 2.07e-04 | 1.36e-03 | 13 |
GO:01061065 | Oral cavity | OSCC | cold-induced thermogenesis | 71/7305 | 144/18723 | 7.51e-03 | 2.75e-02 | 71 |
GO:01201615 | Oral cavity | OSCC | regulation of cold-induced thermogenesis | 71/7305 | 144/18723 | 7.51e-03 | 2.75e-02 | 71 |
GO:00016594 | Oral cavity | OSCC | temperature homeostasis | 84/7305 | 174/18723 | 7.84e-03 | 2.87e-02 | 84 |
GO:19908454 | Oral cavity | OSCC | adaptive thermogenesis | 76/7305 | 157/18723 | 1.02e-02 | 3.52e-02 | 76 |
GO:000979112 | Oral cavity | LP | post-embryonic development | 31/4623 | 80/18723 | 3.69e-03 | 2.44e-02 | 31 |
GO:004856911 | Oral cavity | LP | post-embryonic animal organ development | 9/4623 | 15/18723 | 3.82e-03 | 2.48e-02 | 9 |
GO:004856912 | Skin | cSCC | post-embryonic animal organ development | 10/4864 | 15/18723 | 1.10e-03 | 7.24e-03 | 10 |
GO:000979122 | Skin | cSCC | post-embryonic development | 32/4864 | 80/18723 | 4.18e-03 | 2.21e-02 | 32 |
GO:000979114 | Thyroid | PTC | post-embryonic development | 48/5968 | 80/18723 | 1.99e-07 | 3.56e-06 | 48 |
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 |
MFAP2 | SNV | Missense_Mutation | novel | c.409T>G | p.Cys137Gly | p.C137G | P55001 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
MFAP2 | SNV | Missense_Mutation | rs767651569 | c.118G>A | p.Asp40Asn | p.D40N | P55001 | protein_coding | deleterious_low_confidence(0.01) | benign(0.001) | TCGA-AZ-4315-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
MFAP2 | SNV | Missense_Mutation | | c.169N>T | p.Pro57Ser | p.P57S | P55001 | protein_coding | tolerated_low_confidence(0.15) | benign(0) | TCGA-G4-6302-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MFAP2 | SNV | Missense_Mutation | rs759929375 | c.305N>C | p.Tyr102Ser | p.Y102S | P55001 | protein_coding | deleterious(0) | possibly_damaging(0.784) | TCGA-NH-A8F8-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | fluorouracil | PD |
MFAP2 | SNV | Missense_Mutation | novel | c.76N>A | p.Leu26Met | p.L26M | P55001 | protein_coding | tolerated_low_confidence(0.16) | possibly_damaging(0.825) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
MFAP2 | SNV | Missense_Mutation | | c.427G>A | p.Ala143Thr | p.A143T | P55001 | protein_coding | deleterious(0.01) | probably_damaging(0.975) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MFAP2 | SNV | Missense_Mutation | rs373562256 | c.383G>A | p.Arg128His | p.R128H | P55001 | protein_coding | deleterious(0.02) | probably_damaging(0.999) | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MFAP2 | SNV | Missense_Mutation | | c.308N>A | p.Pro103Gln | p.P103Q | P55001 | protein_coding | deleterious(0) | probably_damaging(0.91) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MFAP2 | SNV | Missense_Mutation | novel | c.209N>C | p.Val70Ala | p.V70A | P55001 | protein_coding | tolerated(0.21) | benign(0.026) | TCGA-B5-A3FA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MFAP2 | SNV | Missense_Mutation | novel | c.471N>A | p.Phe157Leu | p.F157L | P55001 | protein_coding | deleterious_low_confidence(0.04) | benign(0.306) | TCGA-BS-A0UF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |