GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00482853 | Esophagus | ESCC | organelle fission | 301/8552 | 488/18723 | 4.64e-13 | 2.12e-11 | 301 |
GO:0010821110 | Esophagus | ESCC | regulation of mitochondrion organization | 107/8552 | 144/18723 | 2.31e-12 | 9.41e-11 | 107 |
GO:001082215 | Esophagus | ESCC | positive regulation of mitochondrion organization | 58/8552 | 74/18723 | 8.55e-09 | 1.73e-07 | 58 |
GO:00901411 | Esophagus | ESCC | positive regulation of mitochondrial fission | 16/8552 | 21/18723 | 4.47e-03 | 1.76e-02 | 16 |
GO:00002662 | Esophagus | ESCC | mitochondrial fission | 28/8552 | 42/18723 | 4.90e-03 | 1.89e-02 | 28 |
GO:00160427 | Esophagus | ESCC | lipid catabolic process | 168/8552 | 320/18723 | 7.97e-03 | 2.84e-02 | 168 |
GO:001082112 | Liver | HCC | regulation of mitochondrion organization | 96/7958 | 144/18723 | 3.82e-09 | 1.02e-07 | 96 |
GO:001604221 | Liver | HCC | lipid catabolic process | 175/7958 | 320/18723 | 6.50e-06 | 7.88e-05 | 175 |
GO:0048285 | Liver | HCC | organelle fission | 254/7958 | 488/18723 | 1.07e-05 | 1.23e-04 | 254 |
GO:001082211 | Liver | HCC | positive regulation of mitochondrion organization | 48/7958 | 74/18723 | 8.50e-05 | 7.46e-04 | 48 |
GO:0000266 | Liver | HCC | mitochondrial fission | 28/7958 | 42/18723 | 1.35e-03 | 7.26e-03 | 28 |
GO:0090140 | Liver | HCC | regulation of mitochondrial fission | 21/7958 | 32/18723 | 7.02e-03 | 2.80e-02 | 21 |
GO:001082124 | Thyroid | PTC | regulation of mitochondrion organization | 78/5968 | 144/18723 | 2.38e-08 | 5.43e-07 | 78 |
GO:001082210 | Thyroid | PTC | positive regulation of mitochondrion organization | 40/5968 | 74/18723 | 6.30e-05 | 5.53e-04 | 40 |
GO:00482855 | Thyroid | PTC | organelle fission | 188/5968 | 488/18723 | 9.64e-04 | 5.77e-03 | 188 |
GO:00901402 | Thyroid | PTC | regulation of mitochondrial fission | 17/5968 | 32/18723 | 1.02e-02 | 4.11e-02 | 17 |
GO:004828512 | Thyroid | ATC | organelle fission | 229/6293 | 488/18723 | 4.79e-10 | 1.29e-08 | 229 |
GO:0010821112 | Thyroid | ATC | regulation of mitochondrion organization | 82/6293 | 144/18723 | 7.15e-09 | 1.54e-07 | 82 |
GO:001082216 | Thyroid | ATC | positive regulation of mitochondrion organization | 43/6293 | 74/18723 | 1.30e-05 | 1.25e-04 | 43 |
GO:00901413 | Thyroid | ATC | positive regulation of mitochondrial fission | 14/6293 | 21/18723 | 1.99e-03 | 9.54e-03 | 14 |
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 |
DDHD1 | SNV | Missense_Mutation | novel | c.793N>C | p.Glu265Gln | p.E265Q | Q8NEL9 | protein_coding | tolerated(0.07) | possibly_damaging(0.529) | TCGA-3C-AALI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Poly E | Complete Response |
DDHD1 | SNV | Missense_Mutation | novel | c.466C>T | p.Arg156Cys | p.R156C | Q8NEL9 | protein_coding | deleterious(0) | possibly_damaging(0.891) | TCGA-A8-A06Q-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
DDHD1 | SNV | Missense_Mutation | rs772528960 | c.2479N>A | p.Leu827Ile | p.L827I | Q8NEL9 | protein_coding | tolerated_low_confidence(0.07) | benign(0.396) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DDHD1 | SNV | Missense_Mutation | | c.1660N>T | p.Arg554Trp | p.R554W | Q8NEL9 | protein_coding | deleterious(0) | possibly_damaging(0.614) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DDHD1 | SNV | Missense_Mutation | rs771702737 | c.1058N>A | p.Ser353Asn | p.S353N | Q8NEL9 | protein_coding | deleterious(0.04) | benign(0.086) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DDHD1 | insertion | Nonsense_Mutation | novel | c.1949_1950insGTGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCTGGGCG | p.Ile650MetfsTer3 | p.I650Mfs*3 | Q8NEL9 | protein_coding | | | TCGA-AO-A0J9-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | PD |
DDHD1 | deletion | Frame_Shift_Del | novel | c.785delN | p.Gly262AlafsTer7 | p.G262Afs*7 | Q8NEL9 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
DDHD1 | deletion | Frame_Shift_Del | novel | c.432delN | p.Lys144AsnfsTer16 | p.K144Nfs*16 | Q8NEL9 | protein_coding | | | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD |
DDHD1 | deletion | Frame_Shift_Del | novel | c.148delN | p.Asp50ThrfsTer110 | p.D50Tfs*110 | Q8NEL9 | protein_coding | | | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD |
DDHD1 | SNV | Missense_Mutation | rs761072788 | c.482N>T | p.Thr161Met | p.T161M | Q8NEL9 | protein_coding | deleterious(0.02) | possibly_damaging(0.796) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |