Tissue | Expression Dynamics | Abbreviation |
Colorectum (GSE201348) | | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Endometrium | | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
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 |
Lung | | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
Oral Cavity | | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Prostate | | BPH: Benign Prostatic Hyperplasia |
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:00485685 | Prostate | Tumor | embryonic organ development | 93/3246 | 427/18723 | 9.84e-03 | 4.18e-02 | 93 |
GO:00016541 | Prostate | Tumor | eye development | 82/3246 | 371/18723 | 1.02e-02 | 4.27e-02 | 82 |
GO:000209011 | Prostate | Tumor | regulation of receptor internalization | 17/3246 | 56/18723 | 1.17e-02 | 4.81e-02 | 17 |
GO:003010020 | Thyroid | PTC | regulation of endocytosis | 108/5968 | 211/18723 | 3.92e-09 | 1.04e-07 | 108 |
GO:004580720 | Thyroid | PTC | positive regulation of endocytosis | 58/5968 | 100/18723 | 6.11e-08 | 1.28e-06 | 58 |
GO:000182215 | Thyroid | PTC | kidney development | 133/5968 | 293/18723 | 7.57e-07 | 1.18e-05 | 133 |
GO:000165517 | Thyroid | PTC | urogenital system development | 149/5968 | 338/18723 | 1.41e-06 | 2.01e-05 | 149 |
GO:007200114 | Thyroid | PTC | renal system development | 135/5968 | 302/18723 | 1.76e-06 | 2.43e-05 | 135 |
GO:0006898110 | Thyroid | PTC | receptor-mediated endocytosis | 112/5968 | 244/18723 | 2.87e-06 | 3.74e-05 | 112 |
GO:006056219 | Thyroid | PTC | epithelial tube morphogenesis | 141/5968 | 325/18723 | 7.52e-06 | 8.73e-05 | 141 |
GO:004825918 | Thyroid | PTC | regulation of receptor-mediated endocytosis | 55/5968 | 110/18723 | 5.64e-05 | 4.99e-04 | 55 |
GO:004311219 | Thyroid | PTC | receptor metabolic process | 77/5968 | 166/18723 | 6.21e-05 | 5.47e-04 | 77 |
GO:004826017 | Thyroid | PTC | positive regulation of receptor-mediated endocytosis | 30/5968 | 52/18723 | 1.06e-04 | 8.56e-04 | 30 |
GO:007207316 | Thyroid | PTC | kidney epithelium development | 60/5968 | 136/18723 | 1.78e-03 | 9.66e-03 | 60 |
GO:00720067 | Thyroid | PTC | nephron development | 61/5968 | 142/18723 | 3.49e-03 | 1.69e-02 | 61 |
GO:00017389 | Thyroid | PTC | morphogenesis of a polarized epithelium | 41/5968 | 94/18723 | 1.10e-02 | 4.38e-02 | 41 |
GO:0030100111 | Thyroid | ATC | regulation of endocytosis | 113/6293 | 211/18723 | 1.71e-09 | 4.22e-08 | 113 |
GO:000182222 | Thyroid | ATC | kidney development | 146/6293 | 293/18723 | 5.81e-09 | 1.28e-07 | 146 |
GO:000165522 | Thyroid | ATC | urogenital system development | 164/6293 | 338/18723 | 7.92e-09 | 1.70e-07 | 164 |
GO:007200122 | Thyroid | ATC | renal system development | 149/6293 | 302/18723 | 9.48e-09 | 1.99e-07 | 149 |
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 |
AHI1 | SNV | Missense_Mutation | | c.3220N>A | p.Arg1074Ser | p.R1074S | Q8N157 | protein_coding | deleterious(0) | probably_damaging(0.989) | TCGA-A2-A0CL-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cytoxan | SD |
AHI1 | SNV | Missense_Mutation | rs774732509 | c.3565N>C | p.Gly1189Arg | p.G1189R | Q8N157 | protein_coding | tolerated_low_confidence(0.25) | possibly_damaging(0.448) | TCGA-A2-A3Y0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |
AHI1 | SNV | Missense_Mutation | | c.1723G>A | p.Glu575Lys | p.E575K | Q8N157 | protein_coding | tolerated(0.18) | possibly_damaging(0.628) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
AHI1 | SNV | Missense_Mutation | | c.1231A>G | p.Lys411Glu | p.K411E | Q8N157 | protein_coding | deleterious(0) | possibly_damaging(0.907) | TCGA-AN-A0XN-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
AHI1 | SNV | Missense_Mutation | novel | c.1467N>A | p.Asn489Lys | p.N489K | Q8N157 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-AR-A0U0-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
AHI1 | SNV | Missense_Mutation | | c.974N>G | p.Glu325Gly | p.E325G | Q8N157 | protein_coding | deleterious(0) | benign(0.255) | TCGA-D8-A1J8-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | nolvadex | SD |
AHI1 | SNV | Missense_Mutation | | c.303G>C | p.Leu101Phe | p.L101F | Q8N157 | protein_coding | tolerated(0.14) | benign(0.172) | TCGA-D8-A1JA-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD |
AHI1 | SNV | Missense_Mutation | | c.2440C>T | p.Arg814Cys | p.R814C | Q8N157 | protein_coding | tolerated(0.1) | benign(0.173) | TCGA-D8-A1JB-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
AHI1 | insertion | Frame_Shift_Ins | novel | c.1465_1466insCTCCTGCTTT | p.Asn489ThrfsTer19 | p.N489Tfs*19 | Q8N157 | protein_coding | | | TCGA-AR-A0U0-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
AHI1 | SNV | Missense_Mutation | rs199612496 | c.82C>T | p.Arg28Cys | p.R28C | Q8N157 | protein_coding | tolerated(0.07) | benign(0) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |