Transcript ID | Name | Length | RefSeq ID | Protein ID | Length | RefSeq ID | UniportKB ID |
---|---|---|---|---|---|---|---|
ENST00000591650 | AP3D1-211 | 1437 | - | - | - (aa) | - | - |
ENST00000591284 | AP3D1-209 | 580 | - | ENSP00000493531 | 61 (aa) | - | A0A2R8YCY8 |
ENST00000591631 | AP3D1-210 | 796 | - | - | - (aa) | - | - |
ENST00000345016 | AP3D1-201 | 4870 | - | ENSP00000344055 | 1153 (aa) | - | O14617 |
ENST00000585652 | AP3D1-203 | 4433 | - | - | - (aa) | - | - |
ENST00000355272 | AP3D1-202 | 5034 | - | ENSP00000347416 | 1215 (aa) | - | O14617 |
ENST00000586370 | AP3D1-205 | 1686 | - | ENSP00000468449 | 174 (aa) | - | K7ERW8 |
ENST00000589223 | AP3D1-206 | 3357 | - | - | - (aa) | - | - |
ENST00000589369 | AP3D1-207 | 618 | - | ENSP00000466267 | 193 (aa) | - | K7ELX8 |
ENST00000644728 | AP3D1-215 | 4015 | XM_017027422 | ENSP00000494972 | 945 (aa) | XP_016882911 | A0A2R8Y611 |
ENST00000586177 | AP3D1-204 | 627 | - | - | - (aa) | - | - |
ENST00000643116 | AP3D1-214 | 5065 | XM_006722932 | ENSP00000495274 | 1215 (aa) | XP_006722995 | O14617 |
ENST00000643010 | AP3D1-213 | 1510 | - | ENSP00000494100 | 431 (aa) | - | A0A2R8Y4J3 |
ENST00000590683 | AP3D1-208 | 723 | - | ENSP00000481961 | 203 (aa) | - | A0A087WYN6 |
ENST00000592488 | AP3D1-212 | 707 | - | - | - (aa) | - | - |
Pathway ID | Pathway Name | Source |
---|---|---|
hsa04142 | Lysosome | KEGG |
ensgID | SNP | Chromosome | Position | SNP-risk | Trait | PubmedID | 95% CI | Or or BEAT | EFO ID |
---|---|---|---|---|---|---|---|---|---|
ENSG00000065000 | rs57908212 | 19 | 2161322 | C | Red blood cell count | 27863252 | [0.021-0.035] unit increase | 0.02806394 | EFO_0004305 |
ENSG00000065000 | rs3803915 | 19 | 2160530 | C | Body mass index | 19851299 | [NR] kg decrease | 0.13 | EFO_0004340 |
ENSG00000065000 | rs3803915 | 19 | 2160530 | C | Myocardial infarction | 24916648 | [1.09-1.16] | 1.12 | EFO_0000612 |
ENSG00000065000 | rs57908212 | 19 | 2161322 | C | Hematocrit | 27863252 | [0.024-0.038] unit increase | 0.03051021 | EFO_0004348 |
ENSG00000065000 | rs57908212 | 19 | 2161322 | C | Hemoglobin concentration | 27863252 | [0.02-0.034] unit increase | 0.02720681 | EFO_0004509 |
ENSG00000065000 | rs25673 | 19 | 2109158 | ? | Adolescent idiopathic scoliosis | 30019117 | EFO_0005423 | ||
ENSG00000065000 | rs75483641 | 19 | 2123929 | T | Male-pattern baldness | 30573740 | [0.017-0.034] unit decrease | 0.0256349 | EFO_0007825 |
ENSG00000065000 | rs4807203 | 19 | 2127273 | ? | White blood cell count | 30595370 | EFO_0004308 | ||
ENSG00000065000 | rs57908212 | 19 | 2161322 | ? | Red blood cell count | 30595370 | EFO_0004305 | ||
ENSG00000065000 | rs183203602 | 19 | 2154724 | T | Systolic blood pressure | 30578418 | [0.71-1.42] mmHg increase | 1.065 | EFO_0006335 |
ENSG00000065000 | rs188076989 | 19 | 2120460 | A | Systolic blood pressure | 30578418 | [0.54-1.32] mmHg increase | 0.927 | EFO_0006335 |
ENSG00000065000 | rs8102624 | 19 | 2161444 | A | Pulse pressure | 30578418 | [0.33-0.48] mmHg increase | 0.4062 | EFO_0005763 |
ENSG00000065000 | rs183203602 | 19 | 2154724 | T | Pulse pressure | 30578418 | [0.77-1.29] mmHg increase | 1.0299 | EFO_0005763 |
ENSG00000065000 | rs188076989 | 19 | 2120460 | A | Pulse pressure | 30578418 | [0.63-1.18] mmHg increase | 0.9033 | EFO_0005763 |
ENSG00000065000 | rs7249081 | 19 | 2157168 | ? | Fat-free mass | 30593698 | [0.16-0.29] unit increase | 0.22619 | EFO_0004995 |
ENSG00000065000 | rs7249081 | 19 | 2157168 | ? | Fat-free mass | 30593698 | [0.13-0.21] unit increase | 0.17007 | EFO_0004995 |
Ensembl ID | Gene Symbol | Coverage | Identiy | Ortholog | Gene Symbol | Coverage | Identiy | Species |
---|---|---|---|---|---|---|---|---|
ENSG00000065000 | AP3D1 | 100 | 80.093 | FBgn0001087 | g | 81 | 61.222 | Drosophila_melanogaster |
ENSG00000065000 | AP3D1 | 89 | 51.852 | YPL195W | APL5 | 70 | 33.584 | Saccharomyces_cerevisiae |
Go ID | Go_term | PubmedID | Evidence | Category |
---|---|---|---|---|
GO:0000139 | Golgi membrane | - | IEA | Component |
GO:0005215 | transporter activity | 9303295. | TAS | Function |
GO:0005765 | lysosomal membrane | 17897319. | HDA | Component |
GO:0005794 | Golgi apparatus | 9151686. | TAS | Component |
GO:0005886 | plasma membrane | - | IEA | Component |
GO:0006623 | protein targeting to vacuole | 21873635. | IBA | Process |
GO:0006726 | eye pigment biosynthetic process | 9303295. | TAS | Process |
GO:0006886 | intracellular protein transport | 21873635. | IBA | Process |
GO:0006896 | Golgi to vacuole transport | 21873635. | IBA | Process |
GO:0008089 | anterograde axonal transport | - | ISS | Process |
GO:0010008 | endosome membrane | 21873635. | IBA | Component |
GO:0010008 | endosome membrane | 16162817. | IDA | Component |
GO:0016020 | membrane | 19946888. | HDA | Component |
GO:0016182 | synaptic vesicle budding from endosome | 21873635. | IBA | Process |
GO:0030123 | AP-3 adaptor complex | 21873635. | IBA | Component |
GO:0032438 | melanosome organization | 22511774. | IC | Process |
GO:0035646 | endosome to melanosome transport | 22511774. | IMP | Process |
GO:0043195 | terminal bouton | 21873635. | IBA | Component |
GO:0048007 | antigen processing and presentation, exogenous lipid antigen via MHC class Ib | - | IEA | Process |
GO:0048490 | anterograde synaptic vesicle transport | 21873635. | IBA | Process |
GO:0048490 | anterograde synaptic vesicle transport | - | ISS | Process |
GO:0048499 | synaptic vesicle membrane organization | 21873635. | IBA | Process |
GO:0051138 | positive regulation of NK T cell differentiation | - | IEA | Process |
GO:0061088 | regulation of sequestering of zinc ion | 17349999. | IMP | Process |
GO:0072657 | protein localization to membrane | 22511774. | IMP | Process |
GO:0098794 | postsynapse | - | IEA | Component |
GO:0098830 | presynaptic endosome | 21873635. | IBA | Component |
GO:0098943 | neurotransmitter receptor transport, postsynaptic endosome to lysosome | 21873635. | IBA | Process |
GO:0098978 | glutamatergic synapse | - | IEA | Component |
GO:1904115 | axon cytoplasm | - | IEA | Component |