Transcript ID | Name | Length | RefSeq ID | Protein ID | Length | RefSeq ID | UniportKB ID |
---|---|---|---|---|---|---|---|
ENST00000564383 | HERC2-205 | 471 | - | - | - (aa) | - | - |
ENST00000566635 | HERC2-208 | 2114 | - | - | - (aa) | - | - |
ENST00000564734 | HERC2-207 | 3121 | - | ENSP00000456237 | 80 (aa) | - | H3BRG9 |
ENST00000562136 | HERC2-202 | 632 | - | - | - (aa) | - | - |
ENST00000261609 | HERC2-201 | 15337 | XM_005268276 | ENSP00000261609 | 4834 (aa) | XP_005268333 | O95714 |
ENST00000564519 | HERC2-206 | 323 | - | - | - (aa) | - | - |
ENST00000649023 | HERC2-213 | 472 | - | - | - (aa) | - | - |
ENST00000567869 | HERC2-209 | 3523 | - | - | - (aa) | - | - |
ENST00000569772 | HERC2-212 | 598 | - | ENSP00000457745 | 200 (aa) | - | H3BUQ1 |
ENST00000568206 | HERC2-210 | 2018 | - | - | - (aa) | - | - |
ENST00000650509 | HERC2-214 | 6668 | XM_017022697 | ENSP00000496936 | 1454 (aa) | XP_016878186 | - |
ENST00000563670 | HERC2-203 | 618 | - | - | - (aa) | - | - |
ENST00000569335 | HERC2-211 | 582 | - | - | - (aa) | - | - |
ENST00000563945 | HERC2-204 | 491 | - | - | - (aa) | - | - |
Pathway ID | Pathway Name | Source |
---|---|---|
hsa04120 | Ubiquitin mediated proteolysis | KEGG |
ensgID | Trait | pValue | Pubmed ID |
---|---|---|---|
ENSG00000128731 | Asthma | 8.1707640E-005 | - |
ENSG00000128731 | Platelet Function Tests | 9.7800000E-006 | - |
ENSG00000128731 | Platelet Function Tests | 9.8900000E-006 | - |
ENSG00000128731 | Vitiligo | 4E-8 | 22561518 |
ENSG00000128731 | Eye Color | 2E-20 | 23118974 |
ENSG00000128731 | Skin Pigmentation | 4E-77 | 25963972 |
ENSG00000128731 | Hair Color | 4E-9 | 26184321 |
ENSG00000128731 | Eye Color | 3E-52 | 20585627 |
ENSG00000128731 | Eye Color | 1E-300 | 20585627 |
ENSG00000128731 | Hair Color | 5E-14 | 26184321 |
ENSG00000128731 | Carcinoma, Squamous Cell | 3E-9 | 26829030 |
ENSG00000128731 | Hair Color | 9E-88 | 20585627 |
ENSG00000128731 | Skin | 2E-7 | 25963972 |
ENSG00000128731 | Multiple Myeloma | 7E-6 | 23502783 |
ENSG00000128731 | Asthma | 7E-14 | 25918132 |
ENSG00000128731 | Toluene 2,4-Diisocyanate | 7E-14 | 25918132 |
ENSG00000128731 | Hair Color | 4E-103 | 18483556 |
ENSG00000128731 | Hair Color | 1E-77 | 18483556 |
ENSG00000128731 | Eye Color | 1E-43 | 18252221 |
ENSG00000128731 | Skin Pigmentation | 4E-14 | 25963972 |
ENSG00000128731 | Hair Color | 6E-35 | 17952075 |
ENSG00000128731 | Eye Color | 2E-53 | 17952075 |
ENSG00000128731 | Carcinoma, Basal Cell | 8E-17 | 27539887 |
ENSG00000128731 | Hair Color | 5E-104 | 26926045 |
ENSG00000128731 | Eye Color | 1E-300 | 20463881 |
ENSG00000128731 | Eyebrows | 5E-47 | 27182965 |
ENSG00000128731 | Eye Color | 1E-241 | 17952075 |
ENSG00000128731 | Alzheimer Disease | 1E-7 | 26830138 |
ENSG00000128731 | Age of Onset | 1E-7 | 26830138 |
ENSG00000128731 | Eye Color | 1E-158 | 23548203 |
ENSG00000128731 | Hair Color | 2E-14 | 26184321 |
ENSG00000128731 | Hair Color | 1E-167 | 23548203 |
ENSG00000128731 | Suntan | 1E-22 | 23548203 |
ENSG00000128731 | Eye Color | 1E-177 | 23548203 |
ensgID | SNP | Chromosome | Position | SNP-risk | Trait | PubmedID | 95% CI | Or or BEAT | EFO ID |
---|---|---|---|---|---|---|---|---|---|
ENSG00000128731 | rs12913832 | 15 | 28120472 | ? | Colorectal cancer | 29228715 | [NR] | 1.252 | EFO_0005842 |
ENSG00000128731 | rs1129038 | 15 | 28111713 | T | Rosacea symptom severity | 29771307 | [0.11-0.2] unit increase | 0.156778 | EFO_0009180 |
ENSG00000128731 | rs12912427 | 15 | 28250810 | G | Rosacea symptom severity | 29771307 | [0.11-0.2] unit increase | 0.154711 | EFO_0009180 |
ENSG00000128731 | rs12913832 | 15 | 28120472 | A | Low tan response | 29739929 | [0.19-0.42] unit decrease | 0.306 | EFO_0004279 |
ENSG00000128731 | rs1667394 | 15 | 28285036 | C | Low tan response | 29739929 | [0.12-0.33] unit decrease | 0.226 | EFO_0004279 |
ENSG00000128731 | rs12916300 | 15 | 28165345 | ? | Monobrow | 27182965 | [0.077-0.058] unit decrease | 0.067 | EFO_0007906 |
ENSG00000128731 | rs8033755 | 15 | 28136400 | A | Alzheimer disease and age of onset | 26830138 | unit decrease | 5.299 | EFO_0000249|EFO_0004847 |
ENSG00000128731 | rs12913832 | 15 | 28120472 | ? | Hair color | 26926045 | EFO_0007822 | ||
ENSG00000128731 | rs12916300 | 15 | 28165345 | T | Basal cell carcinoma | 27539887 | [NR] | 1.15 | EFO_0004193 |
ENSG00000128731 | rs79097182 | 15 | 28266851 | ? | Blond vs non-blond hair color | 26184321 | [2.70-3.26] | 2.9822 | EFO_0003924 |
ENSG00000128731 | rs79097182 | 15 | 28266851 | ? | Brown vs. non-brown hair color | 26184321 | [1.83-2.31] | 2.07168 | EFO_0003924 |
ENSG00000128731 | rs79097182 | 15 | 28266851 | ? | Light vs. dark hair color | 26184321 | [2.29-2.84] | 2.564103 | EFO_0003924 |
ENSG00000128731 | rs149963581 | 15 | 28212394 | C | Skin sensitivity to sun | 25963972 | [0.28-0.61] unit increase | 0.441 | EFO_0004795 |
ENSG00000128731 | rs1667392 | 15 | 28288419 | G | Skin colour saturation | 25963972 | [NR] unit increase | 0.01 | EFO_0003784 |
ENSG00000128731 | rs12913832 | 15 | 28120472 | A | Perceived skin darkness | 25963972 | [0.19-0.23] unit increase | 0.21006678 | EFO_0003784 |
ENSG00000128731 | rs12916300 | 15 | 28165345 | ? | Squamous cell carcinoma | 26829030 | [1.09-1.18] | 1.1363636 | EFO_0000707 |
ENSG00000128731 | rs1667394 | 15 | 28285036 | C | Eye color | 23118974 | [0.28-0.42] unit increase | 0.353 | EFO_0003949 |
ENSG00000128731 | rs8028689 | 15 | 28243742 | G | Multiple myeloma (IgH translocation) | 23502783 | [1.33-2.05] | 1.65 | EFO_0001378 |
ENSG00000128731 | rs12913832 | 15 | 28120472 | A | Eye color | 23548203 | [2.62-3.02] unit increase | 2.82 | EFO_0003949 |
ENSG00000128731 | rs12913832 | 15 | 28120472 | G | Tanning | 23548203 | [0.12-0.16] unit increase | 0.14 | EFO_0004279 |
ENSG00000128731 | rs12913832 | 15 | 28120472 | G | Hair color | 23548203 | [0.37-0.41] unit increase | 0.39 | EFO_0003924 |
ENSG00000128731 | rs12913832 | 15 | 28120472 | G | Eye color | 23548203 | [2.62-3.06] unit decrease | 2.84 | EFO_0003949 |
ENSG00000128731 | rs12913832 | 15 | 28120472 | ? | Eye color traits | 20463881 | EFO_0003949 | ||
ENSG00000128731 | rs12913832 | 15 | 28120472 | A | Hair color | 20585627 | [NR] unit increase | 0.97 | EFO_0003924 |
ENSG00000128731 | rs12913832 | 15 | 28120472 | A | Eye color | 20585627 | [NR] unit increase | 2.49 | EFO_0003949 |
ENSG00000128731 | rs12913832 | 15 | 28120472 | A | Eye color | 20585627 | [NR] | 8.43 | EFO_0003949 |
ENSG00000128731 | rs1635168 | 15 | 28290120 | A | Vitiligo | 27723757 | [1.26-1.49] | 1.371 | EFO_0004208 |
ENSG00000128731 | rs138063419 | 15 | 28130268 | T | Osteoarthritis of the hip (with total joint replacement) | 29436472 | [1.29-1.88] | 1.56 | EFO_1000786 |
ENSG00000128731 | rs12913832 | 15 | 28120472 | ? | Colonoscopy-negative controls vs population controls | 29228715 | [NR] | 1.397 | EFO_0008460 |
ENSG00000128731 | rs12916300 | 15 | 28165345 | ? | Colorectal cancer | 29228715 | [NR] | 1.35 | EFO_0005842 |
ENSG00000128731 | rs1129038 | 15 | 28111713 | C | Vitiligo | 22561518 | [NR] | 1.22 | EFO_0004208 |
ENSG00000128731 | rs916977 | 15 | 28268218 | ? | Iris color | 18252221 | EFO_0003949 | ||
ENSG00000128731 | rs12913832 | 15 | 28120472 | A | Black vs. blond hair color | 18483556 | [0.40-0.48] hair color score decrease | 0.44 | EFO_0003924 |
ENSG00000128731 | rs12913832 | 15 | 28120472 | A | Black vs. red hair color | 18483556 | [0.40-0.48] hair color score decrease | 0.44 | EFO_0003924 |
ENSG00000128731 | rs1667394 | 15 | 28285036 | A | Blond vs. brown hair color | 17952075 | [3.16-7.71] | 4.94 | EFO_0003924 |
ENSG00000128731 | rs1667394 | 15 | 28285036 | A | Blue vs. green eyes | 17952075 | [4.61-9.83] | 6.74 | EFO_0003949 |
ENSG00000128731 | rs1667394 | 15 | 28285036 | A | Blue vs. brown eyes | 17952075 | [21.47-40.35] | 29.43 | EFO_0003949 |
ENSG00000128731 | rs12913832 | 15 | 28120472 | A | Diisocyanate-induced asthma | 25918132 | [2.47-4.89] | 3.48 | EFO_0006995|EFO_0000270 |
ENSG00000128731 | rs12913832 | 15 | 28120472 | A | Hair color | 29662168 | [0.49-0.5] unit increase | 0.499 | EFO_0007822 |
ENSG00000128731 | rs1129038 | 15 | 28111713 | C | Refractive astigmatism | 30306274 | [0.015-0.031] dioptres decrease | 0.023 | HP_0000483 |
ENSG00000128731 | rs12913832 | 15 | 28120472 | ? | Blond vs. brown/black hair color | 30531825 | NR | 4.6904316 | EFO_0003924 |
ENSG00000128731 | rs77572354 | 15 | 28315576 | G | Blond vs. brown/black hair color | 30531825 | NR | 1.277 | EFO_0003924 |
ENSG00000128731 | rs75165924 | 15 | 28135112 | T | Blond vs. brown/black hair color | 30531825 | NR | 1.41 | EFO_0003924 |
ENSG00000128731 | rs1129038 | 15 | 28111713 | ? | Red vs. brown/black hair color | 30531825 | NR | 1.4060742 | EFO_0003924 |
ENSG00000128731 | rs12913832 | 15 | 28120472 | ? | Brown vs. black hair color | 30531825 | NR | 2.2291574 | EFO_0003924 |
ENSG00000128731 | rs117007668 | 15 | 28126276 | ? | Hair color | 30595370 | EFO_0007822 | ||
ENSG00000128731 | rs144864205 | 15 | 28231486 | ? | Hair color | 30595370 | EFO_0007822 | ||
ENSG00000128731 | rs7403279 | 15 | 28138419 | ? | Sunburns | 30595370 | EFO_0003958 | ||
ENSG00000128731 | rs117325217 | 15 | 28289631 | ? | Sunburns | 30595370 | EFO_0003958 | ||
ENSG00000128731 | rs12913832 | 15 | 28120472 | A | Corneal astigmatism | 30306274 | [1.05-1.12] | 1.0869565 | EFO_1002040 |
ENSG00000128731 | rs1129038 | 15 | 28111713 | C | Corneal astigmatism | 30306274 | [0.022-0.034] dioptres decrease | 0.028 | EFO_1002040 |
ENSG00000128731 | rs12913832 | 15 | 28120472 | ? | Skin pigmentation | 30664655 | EFO_0007009 | ||
ENSG00000128731 | rs4778249 | 15 | 28135372 | ? | Skin pigmentation | 30664655 | EFO_0007009 | ||
ENSG00000128731 | rs12913832 | 15 | 28120472 | ? | Eye color (saturation) | 30664655 | EFO_0009764 | ||
ENSG00000128731 | rs4778249 | 15 | 28135372 | ? | Eye color (saturation) | 30664655 | EFO_0009764 | ||
ENSG00000128731 | rs12913832 | 15 | 28120472 | ? | Eye color | 30664655 | EFO_0009764 | ||
ENSG00000128731 | rs4778249 | 15 | 28135372 | ? | Eye color | 30664655 | EFO_0009764 | ||
ENSG00000128731 | rs12913832 | 15 | 28120472 | ? | Hair color | 30664655 | EFO_0007822 | ||
ENSG00000128731 | rs12913832 | 15 | 28120472 | ? | Eye color (brightness) | 30664655 | EFO_0009764 | ||
ENSG00000128731 | rs4778249 | 15 | 28135372 | ? | Eye color (brightness) | 30664655 | EFO_0009764 | ||
ENSG00000128731 | rs12913832 | 15 | 28120472 | ? | Eye color (hue) | 30664655 | EFO_0009764 | ||
ENSG00000128731 | rs1667394 | 15 | 28285036 | ? | Eye color traits | 30166351 | [1.42-1.68] unit increase | 1.5500612 | EFO_0003949 |
ENSG00000128731 | rs1667394 | 15 | 28285036 | ? | Eye color traits | 30166351 | [1.72-1.97] unit increase | 1.843 | EFO_0003949 |
ENSG00000128731 | rs1667394 | 15 | 28285036 | ? | Eye color traits | 30166351 | [0.57-0.65] unit decrease | 0.6088 | EFO_0003949 |
ENSG00000128731 | rs1667392 | 15 | 28288419 | ? | Skin pigmentation traits | 30166351 | [0.29-0.34] unit decrease | 0.3162 | EFO_0003784 |
ENSG00000128731 | rs12913832 | 15 | 28120472 | ? | Skin pigmentation traits | 30166351 | [0.3-0.35] unit decrease | 0.3257 | EFO_0003784 |
ENSG00000128731 | rs12913832 | 15 | 28120472 | ? | Skin pigmentation traits | 30166351 | [5.89-6.82] unit decrease | 6.354 | EFO_0003784 |
ENSG00000128731 | rs1667392 | 15 | 28288419 | ? | Skin pigmentation traits | 30166351 | [5.62-6.63] unit decrease | 6.123 | EFO_0003784 |
ENSG00000128731 | rs1667392 | 15 | 28288419 | ? | Skin pigmentation traits | 30166351 | [0.62-0.96] unit decrease | 0.7935 | EFO_0003784 |
ENSG00000128731 | rs12913832 | 15 | 28120472 | ? | Skin pigmentation traits | 30166351 | [0.7-1.02] unit decrease | 0.8599 | EFO_0003784 |
ENSG00000128731 | rs12913832 | 15 | 28120472 | ? | Skin pigmentation traits | 30166351 | [0.14-0.21] unit increase | 0.1766 | EFO_0003784 |
ENSG00000128731 | rs1667392 | 15 | 28288419 | ? | Skin pigmentation traits | 30166351 | [0.13-0.2] unit increase | 0.1647 | EFO_0003784 |
ENSG00000128731 | rs1129038 | 15 | 28111713 | ? | Skin pigmentation traits | 30166351 | [0.37-0.7] unit increase | 0.5341482 | EFO_0004279|EFO_0003784 |
ENSG00000128731 | rs12913832 | 15 | 28120472 | ? | Skin pigmentation traits | 30166351 | [0.23-0.42] unit increase | 0.32792723 | EFO_0004279|EFO_0003784 |
ENSG00000128731 | rs12913832 | 15 | 28120472 | ? | Skin pigmentation traits | 30166351 | [0.44-0.77] unit decrease | 0.6038 | EFO_0004279|EFO_0003784 |
ENSG00000128731 | rs1667392 | 15 | 28288419 | ? | Skin pigmentation traits | 30166351 | [0.42-0.78] unit decrease | 0.6035 | EFO_0004279|EFO_0003784 |
ENSG00000128731 | rs12913832 | 15 | 28120472 | ? | Skin pigmentation traits | 30166351 | [0.15-0.25] unit decrease | 0.2014 | EFO_0004279|EFO_0003784 |
ENSG00000128731 | rs1667392 | 15 | 28288419 | ? | Skin pigmentation traits | 30166351 | [0.14-0.26] unit decrease | 0.1983 | EFO_0004279|EFO_0003784 |
ENSG00000128731 | rs12913832 | 15 | 28120472 | ? | Hair morphology traits | 30166351 | [0.56-0.8] unit decrease | 0.682465 | EFO_0007822|EFO_0007821 |
ENSG00000128731 | rs1667392 | 15 | 28288419 | ? | Hair morphology traits | 30166351 | [1.21-1.62] unit increase | 1.4178878 | EFO_0007822|EFO_0007821 |
ENSG00000128731 | rs12913832 | 15 | 28120472 | ? | Hair morphology traits | 30166351 | [1.41-1.82] unit increase | 1.6129291 | EFO_0007822|EFO_0007821 |
ENSG00000128731 | rs1129038 | 15 | 28111713 | ? | Hair morphology traits | 30166351 | [1.23-1.61] unit increase | 1.4185499 | EFO_0007822|EFO_0007821 |
ENSG00000128731 | rs1667392 | 15 | 28288419 | ? | Hair morphology traits | 30166351 | [1.1-1.49] unit increase | 1.2948569 | EFO_0007822|EFO_0007821 |
ENSG00000128731 | rs1667392 | 15 | 28288419 | ? | Hair morphology traits | 30166351 | [1.37-1.73] unit decrease | 1.549 | EFO_0007822|EFO_0007821 |
ENSG00000128731 | rs12913832 | 15 | 28120472 | ? | Hair morphology traits | 30166351 | [1.44-1.77] unit decrease | 1.602 | EFO_0007822|EFO_0007821 |
ENSG00000128731 | rs1667392 | 15 | 28288419 | ? | Hair morphology traits | 30166351 | [0.3-0.37] unit increase | 0.3348 | EFO_0007822|EFO_0007821 |
ENSG00000128731 | rs12913832 | 15 | 28120472 | ? | Hair morphology traits | 30166351 | [0.32-0.38] unit increase | 0.3482 | EFO_0007822|EFO_0007821 |
Go ID | Go_term | PubmedID | Evidence | Category |
---|---|---|---|---|
GO:0004842 | ubiquitin-protein transferase activity | 20304803. | IDA | Function |
GO:0005085 | guanyl-nucleotide exchange factor activity | 9949213. | NAS | Function |
GO:0005515 | protein binding | 20023648.20304803.29426014. | IPI | Function |
GO:0005634 | nucleus | 21873635. | IBA | Component |
GO:0005634 | nucleus | 20304803. | IDA | Component |
GO:0005654 | nucleoplasm | - | TAS | Component |
GO:0005737 | cytoplasm | 20304803. | IDA | Component |
GO:0005814 | centriole | - | IEA | Component |
GO:0006303 | double-strand break repair via nonhomologous end joining | - | TAS | Process |
GO:0006886 | intracellular protein transport | 9949213. | NAS | Process |
GO:0006974 | cellular response to DNA damage stimulus | 21873635. | IBA | Process |
GO:0006974 | cellular response to DNA damage stimulus | 22508508. | IDA | Process |
GO:0007283 | spermatogenesis | - | IEA | Process |
GO:0008270 | zinc ion binding | - | IEA | Function |
GO:0016020 | membrane | 19946888. | HDA | Component |
GO:0016567 | protein ubiquitination | 20304803. | IDA | Process |
GO:0016567 | protein ubiquitination | - | IEA | Process |
GO:0031625 | ubiquitin protein ligase binding | 22508508. | IPI | Function |
GO:0032183 | SUMO binding | 22508508. | IDA | Function |
GO:0043161 | proteasome-mediated ubiquitin-dependent protein catabolic process | 21873635. | IBA | Process |