GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:1902903111 | Esophagus | ESCC | regulation of supramolecular fiber organization | 237/8552 | 383/18723 | 9.06e-11 | 2.75e-09 | 237 |
GO:00301984 | Esophagus | ESCC | extracellular matrix organization | 171/8552 | 301/18723 | 6.08e-05 | 4.67e-04 | 171 |
GO:00430624 | Esophagus | ESCC | extracellular structure organization | 171/8552 | 302/18723 | 7.73e-05 | 5.76e-04 | 171 |
GO:00452294 | Esophagus | ESCC | external encapsulating structure organization | 172/8552 | 304/18723 | 7.80e-05 | 5.80e-04 | 172 |
GO:00301993 | Esophagus | ESCC | collagen fibril organization | 40/8552 | 61/18723 | 1.35e-03 | 6.44e-03 | 40 |
GO:19030532 | Esophagus | ESCC | regulation of extracellular matrix organization | 30/8552 | 48/18723 | 1.40e-02 | 4.57e-02 | 30 |
GO:190290312 | Liver | Cirrhotic | regulation of supramolecular fiber organization | 148/4634 | 383/18723 | 8.85e-10 | 4.08e-08 | 148 |
GO:190290322 | Liver | HCC | regulation of supramolecular fiber organization | 224/7958 | 383/18723 | 1.54e-10 | 5.33e-09 | 224 |
GO:1902903113 | Thyroid | PTC | regulation of supramolecular fiber organization | 202/5968 | 383/18723 | 1.16e-17 | 1.15e-15 | 202 |
GO:00301986 | Thyroid | PTC | extracellular matrix organization | 124/5968 | 301/18723 | 3.75e-04 | 2.53e-03 | 124 |
GO:00430626 | Thyroid | PTC | extracellular structure organization | 124/5968 | 302/18723 | 4.38e-04 | 2.92e-03 | 124 |
GO:00452296 | Thyroid | PTC | external encapsulating structure organization | 124/5968 | 304/18723 | 5.96e-04 | 3.79e-03 | 124 |
GO:19030533 | Thyroid | PTC | regulation of extracellular matrix organization | 26/5968 | 48/18723 | 1.13e-03 | 6.59e-03 | 26 |
GO:00301995 | Thyroid | PTC | collagen fibril organization | 29/5968 | 61/18723 | 7.57e-03 | 3.23e-02 | 29 |
GO:1902903210 | Thyroid | ATC | regulation of supramolecular fiber organization | 210/6293 | 383/18723 | 6.20e-18 | 7.54e-16 | 210 |
GO:003019812 | Thyroid | ATC | extracellular matrix organization | 152/6293 | 301/18723 | 8.63e-10 | 2.24e-08 | 152 |
GO:004306212 | Thyroid | ATC | extracellular structure organization | 152/6293 | 302/18723 | 1.17e-09 | 2.94e-08 | 152 |
GO:004522912 | Thyroid | ATC | external encapsulating structure organization | 152/6293 | 304/18723 | 2.11e-09 | 5.08e-08 | 152 |
GO:003019911 | Thyroid | ATC | collagen fibril organization | 43/6293 | 61/18723 | 4.24e-09 | 9.57e-08 | 43 |
GO:190305311 | Thyroid | ATC | regulation of extracellular matrix organization | 33/6293 | 48/18723 | 6.86e-07 | 9.33e-06 | 33 |
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 |
AEBP1 | SNV | Missense_Mutation | rs779044302 | c.751N>T | p.Arg251Trp | p.R251W | Q8IUX7 | protein_coding | deleterious_low_confidence(0) | benign(0.003) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
AEBP1 | SNV | Missense_Mutation | | c.1705N>A | p.Asp569Asn | p.D569N | Q8IUX7 | protein_coding | deleterious(0) | probably_damaging(0.968) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
AEBP1 | SNV | Missense_Mutation | | c.2191N>A | p.Glu731Lys | p.E731K | Q8IUX7 | protein_coding | deleterious(0.03) | possibly_damaging(0.842) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
AEBP1 | SNV | Missense_Mutation | | c.1573N>A | p.Leu525Ile | p.L525I | Q8IUX7 | protein_coding | tolerated(0.28) | possibly_damaging(0.898) | TCGA-AO-A0JB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD |
AEBP1 | SNV | Missense_Mutation | rs771452124 | c.1982G>A | p.Arg661His | p.R661H | Q8IUX7 | protein_coding | deleterious(0) | probably_damaging(0.965) | TCGA-AR-A0U2-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | tamoxiphen | PD |
AEBP1 | SNV | Missense_Mutation | | c.2933G>A | p.Cys978Tyr | p.C978Y | Q8IUX7 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
AEBP1 | SNV | Missense_Mutation | | c.697C>G | p.Leu233Val | p.L233V | Q8IUX7 | protein_coding | deleterious_low_confidence(0) | benign(0.189) | TCGA-BH-A1EV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
AEBP1 | SNV | Missense_Mutation | rs373830686 | c.1279N>T | p.Asp427Tyr | p.D427Y | Q8IUX7 | protein_coding | deleterious(0.03) | possibly_damaging(0.906) | TCGA-E9-A54Y-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
AEBP1 | SNV | Missense_Mutation | rs768189740 | c.2000C>T | p.Ser667Leu | p.S667L | Q8IUX7 | protein_coding | deleterious(0) | probably_damaging(0.988) | TCGA-PE-A5DE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
AEBP1 | deletion | In_Frame_Del | rs755132794 | c.3043_3057delNNNNNNNNNNNNNNN | p.Gln1020_Gln1024del | p.Q1020_Q1024del | Q8IUX7 | protein_coding | | | TCGA-A7-A0DB-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD |