GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0034101 | Colorectum | AD | erythrocyte homeostasis | 51/3918 | 129/18723 | 1.07e-06 | 3.59e-05 | 51 |
GO:0030099 | Colorectum | AD | myeloid cell differentiation | 119/3918 | 381/18723 | 1.24e-06 | 4.01e-05 | 119 |
GO:0002262 | Colorectum | AD | myeloid cell homeostasis | 57/3918 | 157/18723 | 6.17e-06 | 1.56e-04 | 57 |
GO:0048872 | Colorectum | AD | homeostasis of number of cells | 87/3918 | 272/18723 | 1.16e-05 | 2.61e-04 | 87 |
GO:0016311 | Colorectum | AD | dephosphorylation | 123/3918 | 417/18723 | 1.84e-05 | 3.82e-04 | 123 |
GO:0030218 | Colorectum | AD | erythrocyte differentiation | 45/3918 | 120/18723 | 2.22e-05 | 4.39e-04 | 45 |
GO:0060249 | Colorectum | AD | anatomical structure homeostasis | 94/3918 | 314/18723 | 9.37e-05 | 1.42e-03 | 94 |
GO:0030258 | Colorectum | AD | lipid modification | 67/3918 | 212/18723 | 1.66e-04 | 2.27e-03 | 67 |
GO:0001894 | Colorectum | AD | tissue homeostasis | 81/3918 | 268/18723 | 1.96e-04 | 2.62e-03 | 81 |
GO:0007568 | Colorectum | AD | aging | 98/3918 | 339/18723 | 2.77e-04 | 3.39e-03 | 98 |
GO:0030224 | Colorectum | AD | monocyte differentiation | 17/3918 | 36/18723 | 3.79e-04 | 4.36e-03 | 17 |
GO:0045646 | Colorectum | AD | regulation of erythrocyte differentiation | 20/3918 | 47/18723 | 6.54e-04 | 6.75e-03 | 20 |
GO:1903706 | Colorectum | AD | regulation of hemopoiesis | 99/3918 | 367/18723 | 3.08e-03 | 2.28e-02 | 99 |
GO:0045637 | Colorectum | AD | regulation of myeloid cell differentiation | 61/3918 | 210/18723 | 3.17e-03 | 2.35e-02 | 61 |
GO:0002573 | Colorectum | AD | myeloid leukocyte differentiation | 60/3918 | 208/18723 | 4.03e-03 | 2.81e-02 | 60 |
GO:0006650 | Colorectum | AD | glycerophospholipid metabolic process | 83/3918 | 306/18723 | 5.40e-03 | 3.55e-02 | 83 |
GO:0006644 | Colorectum | AD | phospholipid metabolic process | 101/3918 | 383/18723 | 5.80e-03 | 3.67e-02 | 101 |
GO:0045017 | Colorectum | AD | glycerolipid biosynthetic process | 69/3918 | 252/18723 | 8.33e-03 | 4.88e-02 | 69 |
GO:00341011 | Colorectum | SER | erythrocyte homeostasis | 39/2897 | 129/18723 | 1.70e-05 | 5.11e-04 | 39 |
GO:00022621 | Colorectum | SER | myeloid cell homeostasis | 44/2897 | 157/18723 | 4.09e-05 | 1.03e-03 | 44 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa04666 | Colorectum | AD | Fc gamma R-mediated phagocytosis | 46/2092 | 97/8465 | 9.10e-07 | 1.22e-05 | 7.77e-06 | 46 |
hsa046661 | Colorectum | AD | Fc gamma R-mediated phagocytosis | 46/2092 | 97/8465 | 9.10e-07 | 1.22e-05 | 7.77e-06 | 46 |
hsa046662 | Colorectum | SER | Fc gamma R-mediated phagocytosis | 39/1580 | 97/8465 | 5.84e-07 | 9.70e-06 | 7.04e-06 | 39 |
hsa046663 | Colorectum | SER | Fc gamma R-mediated phagocytosis | 39/1580 | 97/8465 | 5.84e-07 | 9.70e-06 | 7.04e-06 | 39 |
hsa046664 | Colorectum | MSS | Fc gamma R-mediated phagocytosis | 45/1875 | 97/8465 | 9.30e-08 | 1.56e-06 | 9.55e-07 | 45 |
hsa046665 | Colorectum | MSS | Fc gamma R-mediated phagocytosis | 45/1875 | 97/8465 | 9.30e-08 | 1.56e-06 | 9.55e-07 | 45 |
hsa046666 | Colorectum | FAP | Fc gamma R-mediated phagocytosis | 35/1404 | 97/8465 | 2.46e-06 | 4.28e-05 | 2.60e-05 | 35 |
hsa046667 | Colorectum | FAP | Fc gamma R-mediated phagocytosis | 35/1404 | 97/8465 | 2.46e-06 | 4.28e-05 | 2.60e-05 | 35 |
hsa046668 | Colorectum | CRC | Fc gamma R-mediated phagocytosis | 27/1091 | 97/8465 | 6.24e-05 | 1.12e-03 | 7.57e-04 | 27 |
hsa046669 | Colorectum | CRC | Fc gamma R-mediated phagocytosis | 27/1091 | 97/8465 | 6.24e-05 | 1.12e-03 | 7.57e-04 | 27 |
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 |
INPP5D | SNV | Missense_Mutation | novel | c.345N>A | p.Asp115Glu | p.D115E | Q92835 | protein_coding | tolerated(0.58) | benign(0.001) | TCGA-AO-A03V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | fluorouracil | SD |
INPP5D | SNV | Missense_Mutation | rs758989076 | c.3170N>T | p.Ser1057Leu | p.S1057L | Q92835 | protein_coding | deleterious_low_confidence(0.05) | benign(0.003) | TCGA-AQ-A7U7-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Targeted Molecular therapy | rituximab | CR |
INPP5D | SNV | Missense_Mutation | | c.1606N>A | p.Gly536Arg | p.G536R | Q92835 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-B6-A0RS-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
INPP5D | SNV | Missense_Mutation | | c.2344N>A | p.Glu782Lys | p.E782K | Q92835 | protein_coding | tolerated(0.79) | benign(0.109) | TCGA-BH-A18F-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
INPP5D | SNV | Missense_Mutation | rs781285468 | c.1934N>A | p.Arg645His | p.R645H | Q92835 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-D8-A1JK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
INPP5D | SNV | Missense_Mutation | novel | c.1730A>G | p.His577Arg | p.H577R | Q92835 | protein_coding | tolerated(0.84) | benign(0.286) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
INPP5D | SNV | Missense_Mutation | | c.1982C>T | p.Ala661Val | p.A661V | Q92835 | protein_coding | deleterious(0.01) | probably_damaging(0.989) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
INPP5D | SNV | Missense_Mutation | rs769891270 | c.3130C>T | p.Arg1044Trp | p.R1044W | Q92835 | protein_coding | deleterious(0) | possibly_damaging(0.865) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
INPP5D | SNV | Missense_Mutation | | c.3233N>C | p.Val1078Ala | p.V1078A | Q92835 | protein_coding | tolerated_low_confidence(0.45) | benign(0) | TCGA-C5-A7UH-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
INPP5D | SNV | Missense_Mutation | rs201032928 | c.3131G>A | p.Arg1044Gln | p.R1044Q | Q92835 | protein_coding | deleterious(0.03) | benign(0.267) | TCGA-C5-A7X3-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | SD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
3635 | INPP5D | DRUGGABLE GENOME, KINASE, ENZYME, CLINICALLY ACTIONABLE | activator | 315661324 | ROSIPTOR | |
3635 | INPP5D | DRUGGABLE GENOME, KINASE, ENZYME, CLINICALLY ACTIONABLE | | TURNAGAINOLIDE B | TURNAGAINOLIDE B | 21539394 |
3635 | INPP5D | DRUGGABLE GENOME, KINASE, ENZYME, CLINICALLY ACTIONABLE | inhibitor | 336446950 | | |
3635 | INPP5D | DRUGGABLE GENOME, KINASE, ENZYME, CLINICALLY ACTIONABLE | | AQX-1125 | ROSIPTOR | |