Protein ID | Domain | Pfam ID | E-value | Domain number | Total number |
---|---|---|---|---|---|
ENSP00000494280 | ResIII | PF04851.15 | 4e-05 | 1 | 1 |
Transcript ID | Name | Length | RefSeq ID | Protein ID | Length | RefSeq ID | UniportKB ID |
---|---|---|---|---|---|---|---|
ENST00000370018 | RTEL1-205 | 4955 | - | ENSP00000359035 | 1219 (aa) | - | Q9NZ71 |
ENST00000647249 | RTEL1-215 | 457 | - | - | - (aa) | - | - |
ENST00000645309 | RTEL1-213 | 331 | - | - | - (aa) | - | - |
ENST00000360203 | RTEL1-203 | 4630 | - | ENSP00000353332 | 1300 (aa) | - | Q9NZ71 |
ENST00000370003 | RTEL1-204 | 2273 | - | - | - (aa) | - | - |
ENST00000496816 | RTEL1-211 | 2222 | - | ENSP00000425576 | 316 (aa) | - | A0A0C4DGC7 |
ENST00000488316 | RTEL1-210 | 669 | - | - | - (aa) | - | - |
ENST00000508582 | RTEL1-212 | 4273 | - | ENSP00000424307 | 1243 (aa) | - | Q9NZ71 |
ENST00000646389 | RTEL1-214 | 570 | - | ENSP00000494280 | 89 (aa) | - | A0A2R8YD56 |
ENST00000469728 | RTEL1-208 | 601 | - | ENSP00000496027 | 48 (aa) | - | A0A2R8Y7H5 |
ENST00000318100 | RTEL1-201 | 4162 | - | ENSP00000322287 | 996 (aa) | - | Q9NZ71 |
ENST00000482936 | RTEL1-209 | 3474 | - | ENSP00000457868 | 1004 (aa) | - | Q9NZ71 |
ENST00000463361 | RTEL1-207 | 575 | - | - | - (aa) | - | - |
ENST00000425905 | RTEL1-206 | 664 | - | ENSP00000388063 | 221 (aa) | - | X6RBZ7 |
ENST00000356810 | RTEL1-202 | 1339 | - | ENSP00000349265 | 356 (aa) | - | X6R5I7 |
ensgID | Trait | pValue | Pubmed ID |
---|---|---|---|
ENSG00000258366 | Smoking | 8.7600000E-006 | - |
ENSG00000258366 | Platelet Function Tests | 2.3900000E-007 | - |
ENSG00000258366 | Platelet Function Tests | 8.7400000E-006 | - |
ENSG00000258366 | Glioma | 1.4930000E-007 | - |
ENSG00000258366 | Glioma | 1.1290000E-010 | - |
ENSG00000258366 | Glioma | 3.8930000E-010 | - |
ENSG00000258366 | Glioma | 9E-11 | 26424050 |
ENSG00000258366 | Dermatitis, Atopic | 2E-9 | 26482879 |
ENSG00000258366 | Colitis, Ulcerative | 2E-10 | 21297633 |
ENSG00000258366 | Glioma | 2E-9 | 21531791 |
ENSG00000258366 | Dental Caries | 3E-6 | 23259602 |
ENSG00000258366 | Glioma | 5E-19 | 24908248 |
ENSG00000258366 | Dermatitis, Atopic | 7E-13 | 26482879 |
ENSG00000258366 | Glioblastoma | 1E-13 | 26424050 |
ENSG00000258366 | Glioma | 2E-9 | 19578366 |
ENSG00000258366 | Glioma | 3E-9 | 19578366 |
ENSG00000258366 | Glioma | 3E-12 | 19578367 |
ENSG00000258366 | Glioma | 1E-10 | 22886559 |
ensgID | SNP | Chromosome | Position | SNP-risk | Trait | PubmedID | 95% CI | Or or BEAT | EFO ID |
---|---|---|---|---|---|---|---|---|---|
ENSG00000258366 | rs2297439 | 20 | 63679775 | G | Telomere length | 29151059 | [0.081-0.159] unit decrease | 0.12 | EFO_0004505 |
ENSG00000258366 | rs2297440 | 20 | 63680946 | C | Non-glioblastoma glioma | 29743610 | [1.17-1.43] | 1.29 | EFO_0005543 |
ENSG00000258366 | rs2297440 | 20 | 63680946 | C | Glioblastoma | 29743610 | [1.35-1.59] | 1.47 | EFO_0005543 |
ENSG00000258366 | rs2297440 | 20 | 63680946 | C | Glioblastoma | 29743610 | [1.39-1.70] | 1.53 | EFO_0005543 |
ENSG00000258366 | rs2297440 | 20 | 63680946 | C | Glioma | 29743610 | [1.32-1.52] | 1.42 | EFO_0005543 |
ENSG00000258366 | rs2297440 | 20 | 63680946 | C | Glioma | 29743610 | [1.26-1.49] | 1.37 | EFO_0005543 |
ENSG00000258366 | rs6010620 | 20 | 63678486 | G | Atopic dermatitis | 26482879 | [1.06-1.13] | 1.09 | EFO_0000274 |
ENSG00000258366 | rs4809219 | 20 | 63671762 | A | Atopic dermatitis | 26482879 | 1.1111112 | EFO_0000274 | |
ENSG00000258366 | rs2236507 | 20 | 63691653 | C | Glioma | 26424050 | [1.18-1.35] | 1.2658228 | EFO_0000326 |
ENSG00000258366 | rs6062302 | 20 | 63689615 | C | Glioblastoma | 26424050 | [1.3-1.56] | 1.4285715 | EFO_0000519 |
ENSG00000258366 | rs6011002 | 20 | 63666449 | ? | Dental caries | 23259602 | EFO_0003819 | ||
ENSG00000258366 | rs6010620 | 20 | 63678486 | G | Glioma | 22886559 | [1.28-1.59] | 1.43 | EFO_0000326 |
ENSG00000258366 | rs6010620 | 20 | 63678486 | G | Glioma (high-grade) | 24908248 | [1.42-1.72] | 1.56 | EFO_0000326 |
ENSG00000258366 | rs6010620 | 20 | 63678486 | G | Glioma | 19578367 | [1.21-1.35] | 1.28 | EFO_0000326 |
ENSG00000258366 | rs6010620 | 20 | 63678486 | G | Glioma (high-grade) | 19578366 | [1.32-1.75] | 1.52 | EFO_0000326 |
ENSG00000258366 | rs4809324 | 20 | 63686867 | C | Glioma (high-grade) | 19578366 | [1.37-1.87] | 1.6 | EFO_0000326 |
ENSG00000258366 | rs2297440 | 20 | 63680946 | C | Glioma | 28346443 | 1.30-1.42 | 1.36 | EFO_0000326|EFO_0005543 |
ENSG00000258366 | rs2297440 | 20 | 63680946 | C | Glioblastoma | 28346443 | 1.40-1.56 | 1.48 | EFO_0000326|EFO_0000519 |
ENSG00000258366 | rs2297440 | 20 | 63680946 | C | Non-glioblastoma glioma | 28346443 | 1.13-1.26 | 1.2 | EFO_0000326|EFO_0005543 |
ENSG00000258366 | rs3787096 | 20 | 63676805 | G | Plateletcrit | 27863252 | [0.018-0.032] unit increase | 0.02508724 | EFO_0007985 |
ENSG00000258366 | rs2297441 | 20 | 63696229 | A | Ulcerative colitis | 21297633 | [1.04-1.15] | 1.09 | EFO_0000729 |
ENSG00000258366 | rs6010620 | 20 | 63678486 | ? | Glioma | 21531791 | [NR] | 1.24 | EFO_0000326 |
ENSG00000258366 | rs6011033 | 20 | 63691346 | ? | Respiratory diseases | 30595370 | EFO_0000684 | ||
ENSG00000258366 | rs2297440 | 20 | 63680946 | C | Glioblastoma (age-stratified) | 30152087 | [1.32-1.60] | 1.45 | EFO_0004847|EFO_0000519 |
ENSG00000258366 | rs2297440 | 20 | 63680946 | C | Glioblastoma (age-stratified) | 30152087 | [1.28-1.55] | 1.41 | EFO_0004847|EFO_0000519 |
ENSG00000258366 | rs2297440 | 20 | 63680946 | C | Glioblastoma (age-stratified) | 30152087 | [1.40-1.70] | 1.55 | EFO_0004847|EFO_0000519 |
ENSG00000258366 | rs6062302 | 20 | 63689615 | ? | Systolic blood pressure | 30595370 | EFO_0006335 | ||
ENSG00000258366 | rs35640778 | 20 | 63689775 | ? | Mean corpuscular hemoglobin | 30595370 | EFO_0004527 | ||
ENSG00000258366 | rs3208007 | 20 | 63690935 | ? | Asthma or allergic disease (pleiotropy) | 29785011 | 1.0526316 | EFO_0003785|EFO_0000270 |
Ensembl ID | Gene Symbol | Coverage | Identiy | Ortholog | Gene Symbol | Coverage | Identiy | Species |
---|---|---|---|---|---|---|---|---|
ENSG00000258366 | RTEL1 | 100 | 91.011 | ENSAMEG00000001689 | - | 100 | 76.161 | Ailuropoda_melanoleuca |
ENSG00000258366 | RTEL1 | 87 | 39.726 | ENSCJAG00000001292 | BRIP1 | 61 | 42.322 | Callithrix_jacchus |
ENSG00000258366 | RTEL1 | 100 | 85.393 | ENSCAFG00020001919 | - | 100 | 74.905 | Canis_lupus_dingo |
ENSG00000258366 | RTEL1 | 87 | 41.096 | ENSCCAG00000024685 | BRIP1 | 60 | 41.096 | Cebus_capucinus |
ENSG00000258366 | RTEL1 | 100 | 94.382 | ENSCATG00000013982 | - | 100 | 93.415 | Cercocebus_atys |
ENSG00000258366 | RTEL1 | 85 | 39.437 | ENSCATG00000041725 | BRIP1 | 58 | 42.623 | Cercocebus_atys |
ENSG00000258366 | RTEL1 | 100 | 91.011 | ENSCLAG00000005519 | - | 98 | 77.983 | Chinchilla_lanigera |
ENSG00000258366 | RTEL1 | 87 | 36.986 | ENSCSAG00000005928 | BRIP1 | 58 | 36.986 | Chlorocebus_sabaeus |
ENSG00000258366 | RTEL1 | 96 | 40.462 | ENSCING00000019781 | - | 100 | 43.465 | Ciona_intestinalis |
ENSG00000258366 | RTEL1 | 96 | 42.899 | ENSCSAVG00000002028 | - | 99 | 43.065 | Ciona_savignyi |
ENSG00000258366 | RTEL1 | 87 | 36.986 | ENSCANG00000032026 | BRIP1 | 52 | 40.314 | Colobus_angolensis_palliatus |
ENSG00000258366 | RTEL1 | 100 | 87.640 | ENSDORG00000013483 | Rtel1 | 98 | 77.854 | Dipodomys_ordii |
ENSG00000258366 | RTEL1 | 100 | 93.258 | ENSEASG00005023163 | - | 99 | 81.818 | Equus_asinus_asinus |
ENSG00000258366 | RTEL1 | 100 | 92.135 | ENSECAG00000021707 | - | 99 | 83.244 | Equus_caballus |
ENSG00000258366 | RTEL1 | 82 | 43.103 | ENSECAG00000024392 | BRIP1 | 63 | 39.362 | Equus_caballus |
ENSG00000258366 | RTEL1 | 100 | 76.404 | ENSGGOG00000042405 | RTEL1 | 98 | 72.504 | Gorilla_gorilla |
ENSG00000258366 | RTEL1 | 100 | 89.888 | ENSHGLG00000005511 | - | 100 | 74.635 | Heterocephalus_glaber_female |
ENSG00000258366 | RTEL1 | 100 | 89.888 | ENSHGLG00100002438 | - | 100 | 74.579 | Heterocephalus_glaber_male |
ENSG00000258366 | RTEL1 | 100 | 88.764 | ENSLAFG00000021665 | - | 99 | 67.854 | Loxodonta_africana |
ENSG00000258366 | RTEL1 | 99 | 95.721 | ENSMFAG00000043680 | - | 100 | 94.717 | Macaca_fascicularis |
ENSG00000258366 | RTEL1 | 85 | 40.845 | ENSMFAG00000044136 | BRIP1 | 58 | 40.845 | Macaca_fascicularis |
ENSG00000258366 | RTEL1 | 100 | 94.382 | ENSMMUG00000000167 | - | 100 | 90.238 | Macaca_mulatta |
ENSG00000258366 | RTEL1 | 85 | 40.845 | ENSMNEG00000040728 | BRIP1 | 80 | 40.845 | Macaca_nemestrina |
ENSG00000258366 | RTEL1 | 85 | 39.437 | ENSMLEG00000037601 | BRIP1 | 57 | 42.623 | Mandrillus_leucophaeus |
ENSG00000258366 | RTEL1 | 97 | 82.558 | MGP_CAROLIEiJ_G0024804 | Rtel1 | 100 | 85.802 | Mus_caroli |
ENSG00000258366 | RTEL1 | 97 | 82.558 | ENSMUSG00000038685 | Rtel1 | 100 | 85.802 | Mus_musculus |
ENSG00000258366 | RTEL1 | 100 | 84.270 | MGP_PahariEiJ_G0026252 | Rtel1 | 100 | 86.420 | Mus_pahari |
ENSG00000258366 | RTEL1 | 97 | 82.558 | MGP_SPRETEiJ_G0025730 | Rtel1 | 100 | 85.802 | Mus_spretus |
ENSG00000258366 | RTEL1 | 99 | 73.541 | ENSPPAG00000033509 | - | 98 | 73.541 | Pan_paniscus |
ENSG00000258366 | RTEL1 | 97 | 81.395 | ENSPTRG00000048787 | - | 99 | 78.022 | Pan_troglodytes |
ENSG00000258366 | RTEL1 | 100 | 94.793 | ENSPANG00000020635 | - | 100 | 94.793 | Papio_anubis |
ENSG00000258366 | RTEL1 | 85 | 39.437 | ENSPANG00000022169 | BRIP1 | 57 | 42.623 | Papio_anubis |
ENSG00000258366 | RTEL1 | 99 | 48.747 | ENSPMAG00000008098 | - | 100 | 53.723 | Petromyzon_marinus |
ENSG00000258366 | RTEL1 | 100 | 84.444 | ENSPCIG00000017939 | - | 99 | 56.408 | Phascolarctos_cinereus |
ENSG00000258366 | RTEL1 | 100 | 93.258 | ENSPCOG00000013374 | - | 100 | 81.895 | Propithecus_coquereli |
ENSG00000258366 | RTEL1 | 100 | 86.517 | ENSRNOG00000027513 | Rtel1 | 100 | 73.813 | Rattus_norvegicus |
ENSG00000258366 | RTEL1 | 100 | 94.398 | ENSRROG00000038795 | - | 100 | 94.462 | Rhinopithecus_roxellana |
ENSG00000258366 | RTEL1 | 87 | 38.356 | ENSSBOG00000035665 | BRIP1 | 57 | 41.361 | Saimiri_boliviensis_boliviensis |
ENSG00000258366 | RTEL1 | 100 | 91.011 | ENSUAMG00000009334 | - | 95 | 81.361 | Ursus_americanus |
ENSG00000258366 | RTEL1 | 100 | 91.011 | ENSUMAG00000022059 | - | 99 | 74.074 | Ursus_maritimus |
ENSG00000258366 | RTEL1 | 100 | 85.393 | ENSVVUG00000015049 | - | 96 | 76.024 | Vulpes_vulpes |
Go ID | Go_term | PubmedID | Evidence | Category |
---|---|---|---|---|
GO:0000723 | telomere maintenance | 23453664. | IMP | Process |
GO:0000723 | telomere maintenance | - | ISS | Process |
GO:0000732 | strand displacement | - | ISS | Process |
GO:0000732 | strand displacement | - | TAS | Process |
GO:0000781 | chromosome, telomeric region | - | ISS | Component |
GO:0003677 | DNA binding | - | IEA | Function |
GO:0004003 | ATP-dependent DNA helicase activity | 21873635. | IBA | Function |
GO:0004003 | ATP-dependent DNA helicase activity | 18957201. | IMP | Function |
GO:0004003 | ATP-dependent DNA helicase activity | 24115439. | ISS | Function |
GO:0004003 | ATP-dependent DNA helicase activity | - | TAS | Function |
GO:0005515 | protein binding | 23585563.23959892.25620558. | IPI | Function |
GO:0005524 | ATP binding | 21873635. | IBA | Function |
GO:0005524 | ATP binding | 18957201. | IMP | Function |
GO:0005634 | nucleus | 21873635. | IBA | Component |
GO:0005634 | nucleus | 23585563. | IDA | Component |
GO:0005634 | nucleus | - | ISS | Component |
GO:0005654 | nucleoplasm | - | TAS | Component |
GO:0006281 | DNA repair | - | IEA | Process |
GO:0010569 | regulation of double-strand break repair via homologous recombination | 21873635. | IBA | Process |
GO:0010569 | regulation of double-strand break repair via homologous recombination | 18957201. | IMP | Process |
GO:0031297 | replication fork processing | 24115439. | ISS | Process |
GO:0032206 | positive regulation of telomere maintenance | - | ISS | Process |
GO:0032508 | DNA duplex unwinding | 21873635. | IBA | Process |
GO:0032508 | DNA duplex unwinding | 24115439. | ISS | Process |
GO:0043247 | telomere maintenance in response to DNA damage | - | ISS | Process |
GO:0045910 | negative regulation of DNA recombination | 21873635. | IBA | Process |
GO:0045910 | negative regulation of DNA recombination | - | ISS | Process |
GO:0046872 | metal ion binding | - | IEA | Function |
GO:0051539 | 4 iron, 4 sulfur cluster binding | - | IEA | Function |
GO:0070182 | DNA polymerase binding | 21873635. | IBA | Function |
GO:0090657 | telomeric loop disassembly | 21873635. | IBA | Process |
GO:0090657 | telomeric loop disassembly | 25620558. | IMP | Process |
GO:0090657 | telomeric loop disassembly | - | ISS | Process |
GO:1902990 | mitotic telomere maintenance via semi-conservative replication | 24115439. | ISS | Process |
GO:1904355 | positive regulation of telomere capping | 23959892. | IMP | Process |
GO:1904358 | positive regulation of telomere maintenance via telomere lengthening | 23959892. | IMP | Process |
GO:1904430 | negative regulation of t-circle formation | 21873635. | IBA | Process |
GO:1904430 | negative regulation of t-circle formation | 25620558. | IMP | Process |
GO:1904430 | negative regulation of t-circle formation | 24115439. | ISS | Process |
GO:1904430 | negative regulation of t-circle formation | 24115439. | TAS | Process |
GO:1904506 | negative regulation of telomere maintenance in response to DNA damage | - | ISS | Process |
GO:1904535 | positive regulation of telomeric loop disassembly | - | ISS | Process |
Cancer | Chr | Position | Mutation Type | dbSNP | Protein-change | Allele Freq | RBD |
---|---|---|---|---|---|---|---|
ACC | |||||||
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CHOL | |||||||
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ESCA | |||||||
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GBM | |||||||
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KIRC | |||||||
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LGG | |||||||
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LUSC | |||||||
LUSC | |||||||
LUSC | |||||||
MESO | |||||||
OV | |||||||
OV | |||||||
OV | |||||||
PAAD | |||||||
PRAD | |||||||
PRAD | |||||||
PRAD | |||||||
READ | |||||||
READ | |||||||
READ | |||||||
READ | |||||||
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STAD | |||||||
STAD | |||||||
UCEC | |||||||
UCEC | |||||||
UCEC | |||||||
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UCEC | |||||||
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UCEC | |||||||
UCEC | |||||||
UCEC |
Cancer | Type | Freq | Q-value |
---|---|---|---|
LIHC | |||
LUAD | |||
OV | |||
PRAD | |||
READ | |||
SARC | |||
SKCM |
Cancer | P-value | Q-value |
---|---|---|
SARC | ||
MESO | ||
HNSC | ||
PRAD | ||
LUSC | ||
ESCA | ||
PCPG | ||
CESC | ||
READ | ||
LGG | ||
LUAD |