Transcript ID | Name | Length | RefSeq ID | Protein ID | Length | RefSeq ID | UniportKB ID |
---|---|---|---|---|---|---|---|
ENST00000593014 | AP2B1-210 | 577 | - | ENSP00000466812 | 132 (aa) | - | K7EN71 |
ENST00000620039 | AP2B1-219 | 3428 | - | ENSP00000481246 | 49 (aa) | - | A0A087WXS3 |
ENST00000616681 | AP2B1-215 | 3267 | - | ENSP00000484708 | 913 (aa) | - | A0A087X253 |
ENST00000614600 | AP2B1-214 | 2285 | - | ENSP00000479691 | 677 (aa) | - | A0A087WZQ6 |
ENST00000616784 | AP2B1-216 | 2542 | XM_005257941 | ENSP00000478471 | 663 (aa) | XP_005257998 | A0A087WU93 |
ENST00000610402 | AP2B1-211 | 3204 | XM_011524448 | ENSP00000483185 | 951 (aa) | XP_011522750 | P63010 |
ENST00000591561 | AP2B1-207 | 756 | - | - | - (aa) | - | - |
ENST00000612035 | AP2B1-212 | 2161 | - | ENSP00000482825 | 677 (aa) | - | A0A087WZQ6 |
ENST00000621668 | AP2B1-220 | 2055 | - | ENSP00000481704 | 639 (aa) | - | A0A087WYD1 |
ENST00000588093 | AP2B1-202 | 334 | - | - | - (aa) | - | - |
ENST00000621914 | AP2B1-221 | 5702 | XM_011524451 | ENSP00000482315 | 937 (aa) | XP_011522753 | P63010 |
ENST00000591610 | AP2B1-208 | 559 | - | ENSP00000465848 | 63 (aa) | - | K7EKZ5 |
ENST00000592167 | AP2B1-209 | 461 | - | ENSP00000467382 | 63 (aa) | - | K7EKZ5 |
ENST00000619183 | AP2B1-218 | 1595 | - | - | - (aa) | - | - |
ENST00000612116 | AP2B1-213 | 3483 | - | ENSP00000478115 | 677 (aa) | - | A0A087WZQ6 |
ENST00000618940 | AP2B1-217 | 3415 | XM_005257937 | ENSP00000482835 | 951 (aa) | XP_005257994 | P63010 |
ENST00000628168 | AP2B1-222 | 192 | - | ENSP00000487324 | 63 (aa) | - | K7EKZ5 |
ENST00000590538 | AP2B1-206 | 568 | - | ENSP00000468813 | 63 (aa) | - | K7EKZ5 |
ENST00000587805 | AP2B1-201 | 690 | - | ENSP00000466580 | 181 (aa) | - | K7EMN7 |
ENST00000588116 | AP2B1-203 | 779 | - | ENSP00000464966 | 164 (aa) | - | K7EJ01 |
ENST00000589774 | AP2B1-204 | 552 | - | ENSP00000468183 | 151 (aa) | - | K7ERB2 |
ENST00000590432 | AP2B1-205 | 554 | - | ENSP00000465357 | 80 (aa) | - | K7EJX1 |
ensgID | Trait | pValue | Pubmed ID |
---|---|---|---|
ENSG00000006125 | Mean Platelet Volume | 4E-12 | 22139419 |
ensgID | SNP | Chromosome | Position | SNP-risk | Trait | PubmedID | 95% CI | Or or BEAT | EFO ID |
---|---|---|---|---|---|---|---|---|---|
ENSG00000006125 | rs225245 | 17 | 35619088 | G | High light scatter reticulocyte percentage of red cells | 27863252 | [0.042-0.056] unit decrease | 0.0488401 | EFO_0007986 |
ENSG00000006125 | rs9915021 | 17 | 35649600 | T | High light scatter reticulocyte percentage of red cells | 27863252 | [0.068-0.097] unit increase | 0.0822496 | EFO_0007986 |
ENSG00000006125 | rs74505413 | 17 | 35596533 | G | Reticulocyte count | 27863252 | [0.15-0.18] unit increase | 0.1640979 | EFO_0007986 |
ENSG00000006125 | rs225245 | 17 | 35619088 | G | Reticulocyte count | 27863252 | [0.077-0.091] unit decrease | 0.08358499 | EFO_0007986 |
ENSG00000006125 | rs11868206 | 17 | 35632228 | A | Mean platelet volume | 27863252 | [0.052-0.07] unit decrease | 0.06073825 | EFO_0004584 |
ENSG00000006125 | rs112346425 | 17 | 35680792 | C | Mean platelet volume | 27863252 | [0.091-0.128] unit decrease | 0.1097456 | EFO_0004584 |
ENSG00000006125 | rs16971217 | 17 | 35617036 | C | Mean platelet volume | 22139419 | [0.007-0.011] ln(fl) increase | 0.009 | EFO_0004584 |
ENSG00000006125 | rs9649 | 17 | 35723915 | T | Educational attainment (MTAG) | 30038396 | [0.0072-0.0138] unit increase | 0.0105 | EFO_0004784 |
ENSG00000006125 | rs225285 | 17 | 35604065 | C | Highest math class taken (MTAG) | 30038396 | [0.0082-0.0152] unit decrease | 0.0117 | EFO_0004875 |
ENSG00000006125 | rs225245 | 17 | 35619088 | G | Reticulocyte fraction of red cells | 27863252 | [0.081-0.095] unit decrease | 0.08756592 | EFO_0007986 |
ENSG00000006125 | rs74505413 | 17 | 35596533 | G | Reticulocyte fraction of red cells | 27863252 | [0.15-0.19] unit increase | 0.1700208 | EFO_0007986 |
ENSG00000006125 | rs11653357 | 17 | 35596588 | A | Platelet count | 27863252 | [0.055-0.073] unit increase | 0.06404226 | EFO_0004309 |
ENSG00000006125 | rs11653357 | 17 | 35596588 | A | Platelet distribution width | 27863252 | [0.091-0.11] unit decrease | 0.1002962 | EFO_0007984 |
ENSG00000006125 | rs533229216 | 17 | 35658446 | T | Platelet distribution width | 27863252 | [0.18-0.32] unit increase | 0.2463744 | EFO_0007984 |
ENSG00000006125 | rs225245 | 17 | 35619088 | G | High light scatter reticulocyte count | 27863252 | [0.04-0.054] unit decrease | 0.04732168 | EFO_0007986 |
ENSG00000006125 | rs9915021 | 17 | 35649600 | T | High light scatter reticulocyte count | 27863252 | [0.067-0.095] unit increase | 0.08090267 | EFO_0007986 |
ENSG00000006125 | rs186558953 | 17 | 35632344 | C | Macrophage inflammatory protein 1b levels | 27989323 | [0.43-0.7] SD units increase | 0.5681 | EFO_0008219 |
ENSG00000006125 | rs9649 | 17 | 35723915 | T | Educational attainment (years of education) | 30038396 | [0.0071-0.0145] unit increase | 0.0108 | EFO_0004784 |
ENSG00000006125 | rs226090 | 17 | 35707040 | ? | Morning person | 30595370 | EFO_0008328 | ||
ENSG00000006125 | rs225245 | 17 | 35619088 | ? | Red cell distribution width | 30595370 | EFO_0005192 | ||
ENSG00000006125 | rs2011528 | 17 | 35653547 | C | Chronotype | 30696823 | 1.0334471 | EFO_0008328 |
Go ID | Go_term | PubmedID | Evidence | Category |
---|---|---|---|---|
GO:0003281 | ventricular septum development | - | IEA | Process |
GO:0005048 | signal sequence binding | 12121421. | TAS | Function |
GO:0005515 | protein binding | 9341158.12086608.12221107.15533940.16189514.20603002.24130457.24189400.25061211.25416956.26680585.30021884. | IPI | Function |
GO:0005829 | cytosol | - | TAS | Component |
GO:0005886 | plasma membrane | - | TAS | Component |
GO:0016020 | membrane | 19946888. | HDA | Component |
GO:0019886 | antigen processing and presentation of exogenous peptide antigen via MHC class II | - | TAS | Process |
GO:0030122 | AP-2 adaptor complex | 12086608. | IMP | Component |
GO:0030122 | AP-2 adaptor complex | 12121421. | TAS | Component |
GO:0030276 | clathrin binding | 19509056. | IPI | Function |
GO:0030276 | clathrin binding | 12121421. | TAS | Function |
GO:0030666 | endocytic vesicle membrane | - | TAS | Component |
GO:0030669 | clathrin-coated endocytic vesicle membrane | - | TAS | Component |
GO:0032802 | low-density lipoprotein particle receptor catabolic process | - | TAS | Process |
GO:0034383 | low-density lipoprotein particle clearance | - | TAS | Process |
GO:0035615 | clathrin adaptor activity | 12121421. | TAS | Function |
GO:0035904 | aorta development | - | IEA | Process |
GO:0036020 | endolysosome membrane | - | TAS | Component |
GO:0044877 | protein-containing complex binding | - | IEA | Function |
GO:0045334 | clathrin-coated endocytic vesicle | 25898166. | NAS | Component |
GO:0045807 | positive regulation of endocytosis | - | IEA | Process |
GO:0048013 | ephrin receptor signaling pathway | - | TAS | Process |
GO:0048268 | clathrin coat assembly | - | IEA | Process |
GO:0050690 | regulation of defense response to virus by virus | - | TAS | Process |
GO:0060071 | Wnt signaling pathway, planar cell polarity pathway | - | TAS | Process |
GO:0060976 | coronary vasculature development | - | IEA | Process |
GO:0061024 | membrane organization | - | TAS | Process |
GO:0072583 | clathrin-dependent endocytosis | 12121421. | TAS | Process |
GO:0098794 | postsynapse | - | IEA | Component |
GO:0098884 | postsynaptic neurotransmitter receptor internalization | - | IEA | Process |
GO:0098978 | glutamatergic synapse | - | IEA | Component |
GO:1901215 | negative regulation of neuron death | - | IEA | Process |
GO:1905477 | positive regulation of protein localization to membrane | - | IEA | Process |