GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00604431 | Colorectum | MSS | mammary gland morphogenesis | 18/3467 | 43/18723 | 3.30e-04 | 4.24e-03 | 18 |
GO:00017631 | Colorectum | MSS | morphogenesis of a branching structure | 55/3467 | 196/18723 | 6.70e-04 | 7.25e-03 | 55 |
GO:0061138 | Colorectum | MSS | morphogenesis of a branching epithelium | 51/3467 | 182/18723 | 1.06e-03 | 1.05e-02 | 51 |
GO:0060444 | Colorectum | MSS | branching involved in mammary gland duct morphogenesis | 10/3467 | 22/18723 | 3.42e-03 | 2.56e-02 | 10 |
GO:0060603 | Colorectum | MSS | mammary gland duct morphogenesis | 12/3467 | 30/18723 | 5.00e-03 | 3.46e-02 | 12 |
GO:00487324 | Colorectum | FAP | gland development | 103/2622 | 436/18723 | 3.61e-08 | 3.12e-06 | 103 |
GO:00226123 | Colorectum | FAP | gland morphogenesis | 34/2622 | 118/18723 | 2.13e-05 | 5.12e-04 | 34 |
GO:00335003 | Colorectum | FAP | carbohydrate homeostasis | 60/2622 | 259/18723 | 4.49e-05 | 9.35e-04 | 60 |
GO:00605622 | Colorectum | FAP | epithelial tube morphogenesis | 71/2622 | 325/18723 | 7.23e-05 | 1.33e-03 | 71 |
GO:00425933 | Colorectum | FAP | glucose homeostasis | 59/2622 | 258/18723 | 7.62e-05 | 1.37e-03 | 59 |
GO:00614583 | Colorectum | FAP | reproductive system development | 85/2622 | 427/18723 | 4.30e-04 | 5.13e-03 | 85 |
GO:00486083 | Colorectum | FAP | reproductive structure development | 84/2622 | 424/18723 | 5.40e-04 | 6.10e-03 | 84 |
GO:00017632 | Colorectum | FAP | morphogenesis of a branching structure | 44/2622 | 196/18723 | 8.79e-04 | 9.01e-03 | 44 |
GO:00308793 | Colorectum | FAP | mammary gland development | 33/2622 | 137/18723 | 1.07e-03 | 1.04e-02 | 33 |
GO:00611381 | Colorectum | FAP | morphogenesis of a branching epithelium | 39/2622 | 182/18723 | 3.98e-03 | 2.76e-02 | 39 |
GO:00604432 | Colorectum | FAP | mammary gland morphogenesis | 13/2622 | 43/18723 | 4.69e-03 | 3.16e-02 | 13 |
GO:00487325 | Colorectum | CRC | gland development | 88/2078 | 436/18723 | 1.62e-08 | 2.79e-06 | 88 |
GO:00226124 | Colorectum | CRC | gland morphogenesis | 29/2078 | 118/18723 | 2.74e-05 | 7.49e-04 | 29 |
GO:00614584 | Colorectum | CRC | reproductive system development | 73/2078 | 427/18723 | 1.13e-04 | 2.22e-03 | 73 |
GO:00335004 | Colorectum | CRC | carbohydrate homeostasis | 49/2078 | 259/18723 | 1.29e-04 | 2.46e-03 | 49 |
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 |
CSMD1 | SNV | Missense_Mutation | | c.5548N>A | p.Glu1850Lys | p.E1850K | | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-A2-A0YK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
CSMD1 | SNV | Missense_Mutation | novel | c.1369T>G | p.Phe457Val | p.F457V | | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-A7-A6VX-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | docetaxel | CR |
CSMD1 | SNV | Missense_Mutation | | c.1733C>A | p.Pro578His | p.P578H | | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A8-A076-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |
CSMD1 | SNV | Missense_Mutation | | c.8060T>A | p.Val2687Glu | p.V2687E | | protein_coding | deleterious(0) | possibly_damaging(0.731) | TCGA-A8-A07R-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Ancillary | zoledronic | SD |
CSMD1 | SNV | Missense_Mutation | rs371336619 | c.5431N>C | p.Gly1811Arg | p.G1811R | | protein_coding | deleterious(0.01) | probably_damaging(0.975) | TCGA-A8-A08F-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | 5-fluorouracil | CR |
CSMD1 | SNV | Missense_Mutation | | c.6422G>A | p.Arg2141Lys | p.R2141K | | protein_coding | tolerated(0.11) | benign(0.003) | TCGA-A8-A095-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
CSMD1 | SNV | Missense_Mutation | rs768149539 | c.9419N>A | p.Arg3140His | p.R3140H | | protein_coding | tolerated(0.05) | benign(0) | TCGA-A8-A09K-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CSMD1 | SNV | Missense_Mutation | | c.690N>A | p.Asn230Lys | p.N230K | | protein_coding | deleterious(0.01) | probably_damaging(0.997) | TCGA-A8-A09Q-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | anastrozole | SD |
CSMD1 | SNV | Missense_Mutation | novel | c.9170N>C | p.Lys3057Thr | p.K3057T | | protein_coding | tolerated(0.15) | benign(0.036) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CSMD1 | SNV | Missense_Mutation | novel | c.7374N>G | p.Phe2458Leu | p.F2458L | | protein_coding | tolerated(0.5) | benign(0.036) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |