Visualization of regulatory element with DNMs in transcripts


Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.
Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000367674 [[175284329, 175292612], [175293491, 175293655], [175299209, 175299371], [175304846, 175304943], [175306663, 175306815], [175323526, 175323659], [175324638, 175324769], [175325454, 175325598], [175328747, 175328867], [175331798, 175331945], [175332843, 175332963], [175334145, 175334415], [175335010, 175335274], [175336343, 175336433], [175348687, 175348873], [175355167, 175355437], [175360423, 175360574], [175362915, 175363031], [175365679, 175365943], [175372275, 175372752], [175375351, 175375913], [175497404, 175497505], [175712361, 175712906]] [[175292492, 175292612], [175293491, 175293655], [175299209, 175299371], [175304846, 175304943], [175306663, 175306815], [175323526, 175323659], [175324638, 175324769], [175325454, 175325598], [175328747, 175328867], [175331798, 175331945], [175332843, 175332963], [175334145, 175334415], [175335010, 175335274], [175336343, 175336433], [175348687, 175348873], [175355167, 175355437], [175360423, 175360574], [175362915, 175363031], [175365679, 175365943], [175372275, 175372752], [175375351, 175375850]]
ENST00000263525 [[175291934, 175292612], [175293491, 175293655], [175299209, 175299371], [175304846, 175304943], [175306663, 175306815], [175323526, 175323659], [175324638, 175324769], [175325454, 175325598], [175328747, 175328867], [175331798, 175331945], [175332843, 175332963], [175334145, 175334415], [175335010, 175335274], [175336343, 175336433], [175348687, 175348873], [175355167, 175355437], [175360423, 175360574], [175362915, 175363031], [175365679, 175365943], [175372275, 175372752], [175375351, 175375913], [175497404, 175497505], [175625740, 175625751], [175712372, 175712752]] [[175292492, 175292612], [175293491, 175293655], [175299209, 175299371], [175304846, 175304943], [175306663, 175306815], [175323526, 175323659], [175324638, 175324769], [175325454, 175325598], [175328747, 175328867], [175331798, 175331945], [175332843, 175332963], [175334145, 175334415], [175335010, 175335274], [175336343, 175336433], [175348687, 175348873], [175355167, 175355437], [175360423, 175360574], [175362915, 175363031], [175365679, 175365943], [175372275, 175372752], [175375351, 175375850]]
ENST00000422274 [[175360563, 175360574], [175362915, 175363031], [175365679, 175365943], [175375351, 175375500]] [[175360563, 175360574], [175362915, 175363031], [175365679, 175365943], [175375351, 175375500]]
NM_003285 [[175291934, 175292612], [175293491, 175293655], [175299209, 175299371], [175304846, 175304943], [175306663, 175306815], [175323526, 175323659], [175324638, 175324769], [175325454, 175325598], [175328747, 175328867], [175331798, 175331945], [175332843, 175332963], [175334145, 175334415], [175335010, 175335274], [175336343, 175336433], [175348687, 175348873], [175355167, 175355437], [175360423, 175360574], [175362915, 175363031], [175365679, 175365943], [175372275, 175372752], [175375351, 175375913], [175497404, 175497505], [175712361, 175712752]] [[175292492, 175292612], [175293491, 175293655], [175299209, 175299371], [175304846, 175304943], [175306663, 175306815], [175323526, 175323659], [175324638, 175324769], [175325454, 175325598], [175328747, 175328867], [175331798, 175331945], [175332843, 175332963], [175334145, 175334415], [175335010, 175335274], [175336343, 175336433], [175348687, 175348873], [175355167, 175355437], [175360423, 175360574], [175362915, 175363031], [175365679, 175365943], [175372275, 175372752], [175375351, 175375850]]
NM_001328635 [[175291934, 175292612], [175293491, 175293655], [175299209, 175299371], [175304846, 175304943], [175306663, 175306815], [175323526, 175323659], [175324638, 175324769], [175325454, 175325598], [175328747, 175328867], [175331798, 175331945], [175332843, 175332963], [175334145, 175334415], [175335010, 175335274], [175336343, 175336433], [175348687, 175348873], [175355167, 175355437], [175360423, 175360574], [175362915, 175363031], [175365679, 175365839], [175372275, 175372752], [175375351, 175375913], [175497404, 175497505], [175712361, 175712752]] [[175292492, 175292612], [175293491, 175293655], [175299209, 175299371], [175304846, 175304943], [175306663, 175306815], [175323526, 175323659], [175324638, 175324769], [175325454, 175325598], [175328747, 175328867], [175331798, 175331945], [175332843, 175332963], [175334145, 175334415], [175335010, 175335274], [175336343, 175336433], [175348687, 175348873], [175355167, 175355437], [175360423, 175360574], [175362915, 175363031], [175365679, 175365839], [175372275, 175372356]]
Promoter
Chrom Start End Description
chr1 175712561 175712572 CAGE_peak_3_at_TNR_5end
chr1 175712665 175712761 CAGE_peak_1_at_TNR_5end
chr1 175712783 175712794 CAGE_peak_2_at_TNR_5end
chr1 175712829 175712840 CAGE_peak_5_at_TNR_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I175176 175176303 175176702 0.58 [{'connected_gene': 'KIAA0040', 'score': 16.83}, {'connected_gene': 'TNR', 'score': 9.58}, {'connected_gene': 'TNN', 'score': 0.14}]
chr1 GH01I175178 175178585 175178734 0.51 [{'connected_gene': 'TNR', 'score': 9.58}, {'connected_gene': 'KIAA0040', 'score': 0.39}, {'connected_gene': 'TNN', 'score': 0.14}]
chr1 GH01I175152 175152125 175152234 0.66 [{'connected_gene': 'TNR', 'score': 9.63}, {'connected_gene': 'KIAA0040', 'score': 0.26}, {'connected_gene': 'TNN', 'score': 0.18}]
chr1 GH01I175179 175178886 175179646 0.2 [{'connected_gene': 'TNR', 'score': 9.58}, {'connected_gene': 'KIAA0040', 'score': 0.39}, {'connected_gene': 'TNN', 'score': 0.14}]
chr1 GH01I175174 175174845 175175134 0.72 [{'connected_gene': 'TNR', 'score': 9.58}, {'connected_gene': 'KIAA0040', 'score': 0.37}, {'connected_gene': 'TNN', 'score': 0.14}]
chr1 GH01I175856 175856254 175858792 0.2 [{'connected_gene': 'TNR', 'score': 10.53}, {'connected_gene': 'SCARNA3', 'score': 9.68}, {'connected_gene': 'LINC01657', 'score': 0.37}]
chr1 GH01I175316 175316978 175320082 0.98 [{'connected_gene': 'TNR', 'score': 10.32}, {'connected_gene': 'GC01M175315', 'score': 0.77}, {'connected_gene': 'LOC105371623', 'score': 0.39}]
chr1 GH01I175824 175824105 175824234 0.46 [{'connected_gene': 'TNR', 'score': 9.87}, {'connected_gene': 'LINC01657', 'score': 0.23}]
chr1 GH01I175823 175823545 175823694 0.2 [{'connected_gene': 'TNR', 'score': 9.88}, {'connected_gene': 'LINC01657', 'score': 0.23}]
chr1 GH01I175519 175519979 175522578 0.52 [{'connected_gene': 'TNR', 'score': 9.53}, {'connected_gene': 'TNR-IT1', 'score': 0.28}, {'connected_gene': 'GC01P175473', 'score': 0.25}]
chr1 GH01I175548 175548397 175549318 0.31 [{'connected_gene': 'TNR', 'score': 9.75}, {'connected_gene': 'TNR-IT1', 'score': 0.44}, {'connected_gene': 'GC01P175473', 'score': 0.19}]
chr1 GH01I175513 175513887 175515486 0.96 [{'connected_gene': 'TNR', 'score': 10.47}, {'connected_gene': 'TNR-IT1', 'score': 0.26}, {'connected_gene': 'GC01P175473', 'score': 0.26}]
chr1 GH01I175367 175367261 175370664 0.31 [{'connected_gene': 'TNR', 'score': 10.17}, {'connected_gene': 'GC01M175315', 'score': 0.25}, {'connected_gene': 'GC01P175473', 'score': 0.15}]
chr1 GH01I175579 175579683 175579809 0.22 [{'connected_gene': 'TNR', 'score': 12.53}, {'connected_gene': 'GC01M175557', 'score': 0.77}, {'connected_gene': 'GC01M175593', 'score': 0.37}]
chr1 GH01I175743 175743580 175743639 0.87 [{'connected_gene': 'TNR', 'score': 550.77}, {'connected_gene': 'GC01M175668', 'score': 0.22}]
chr1 GH01I175470 175470730 175471774 0.95 [{'connected_gene': 'MRPS14', 'score': 11.46}, {'connected_gene': 'TNR', 'score': 10.6}, {'connected_gene': 'GC01P175473', 'score': 0.77}, {'connected_gene': 'GC01M175315', 'score': 0.1}]
chr1 GH01I175839 175839519 175842252 1.17 [{'connected_gene': 'COP1', 'score': 11.66}, {'connected_gene': 'LINC01657', 'score': 0.28}, {'connected_gene': 'TNR', 'score': 0.15}]
chr1 GH01I175341 175341373 175342214 0.38 [{'connected_gene': 'LOC105371623', 'score': 4.68}, {'connected_gene': 'GC01M175315', 'score': 0.34}, {'connected_gene': 'GC01P175473', 'score': 0.12}, {'connected_gene': 'TNR', 'score': 0.05}]
chr1 GH01I175864 175864669 175866045 0.76 [{'connected_gene': 'LINC01657', 'score': 0.39}, {'connected_gene': 'TNR', 'score': 0.13}]
chr1 GH01I175833 175833622 175835340 0.43 [{'connected_gene': 'LINC01657', 'score': 0.26}, {'connected_gene': 'TNR', 'score': 0.16}]
chr1 GH01I175832 175832565 175832714 0.31 [{'connected_gene': 'LINC01657', 'score': 0.26}, {'connected_gene': 'TNR', 'score': 0.17}]
chr1 GH01I175869 175869836 175872687 0.31 [{'connected_gene': 'LINC01657', 'score': 0.44}, {'connected_gene': 'TNR', 'score': 0.13}]
chr1 GH01I175861 175861496 175862994 0.4 [{'connected_gene': 'LINC01657', 'score': 0.37}, {'connected_gene': 'TNR', 'score': 0.13}]
chr1 GH01I175820 175820211 175821042 0.2 [{'connected_gene': 'LINC01657', 'score': 0.22}, {'connected_gene': 'TNR', 'score': 0.18}]
chr1 GH01I175863 175863304 175864027 0.51 [{'connected_gene': 'LINC01657', 'score': 0.39}, {'connected_gene': 'TNR', 'score': 0.13}]
chr1 GH01I175536 175536005 175536958 0.54 [{'connected_gene': 'TNR-IT1', 'score': 0.34}, {'connected_gene': 'GC01P175473', 'score': 0.21}, {'connected_gene': 'TNR', 'score': 0.08}]
chr1 GH01I175523 175523630 175523948 0.22 [{'connected_gene': 'TNR-IT1', 'score': 0.29}, {'connected_gene': 'GC01P175473', 'score': 0.25}, {'connected_gene': 'TNR', 'score': 0.08}]
chr1 GH01I175564 175564865 175564870 0.46 [{'connected_gene': 'TNR-IT1', 'score': 0.44}, {'connected_gene': 'GC01M175557', 'score': 0.39}, {'connected_gene': 'TNR', 'score': 0.1}]
chr1 GH01I175868 175868262 175869692 0.31 [{'connected_gene': 'LOC100129734', 'score': 5.26}, {'connected_gene': 'LINC01657', 'score': 0.44}, {'connected_gene': 'TNR', 'score': 0.13}]
chr1 GH01I175600 175600601 175601454 0.74 [{'connected_gene': 'GC01M175593', 'score': 0.77}, {'connected_gene': 'GC01P175626', 'score': 0.34}, {'connected_gene': 'GC01P175625', 'score': 0.34}, {'connected_gene': 'TNR', 'score': 0.11}]
chr1 GH01I175417 175417273 175417400 0.2 [{'connected_gene': 'GC01P175473', 'score': 0.22}, {'connected_gene': 'GC01M175315', 'score': 0.15}, {'connected_gene': 'TNR', 'score': 0.05}]
chr1 GH01I175672 175672683 175674405 0.52 [{'connected_gene': 'GC01M175668', 'score': 0.39}, {'connected_gene': 'GC01P175626', 'score': 0.25}, {'connected_gene': 'GC01P175625', 'score': 0.25}, {'connected_gene': 'TNR', 'score': 0.19}]
chr1 GH01I175690 175690511 175690734 0.45 [{'connected_gene': 'GC01M175668', 'score': 0.77}, {'connected_gene': 'TNR', 'score': 0.23}]
chr1 GH01I175665 175665190 175666074 0.31 [{'connected_gene': 'GC01M175668', 'score': 0.34}, {'connected_gene': 'GC01P175626', 'score': 0.26}, {'connected_gene': 'GC01P175625', 'score': 0.26}, {'connected_gene': 'TNR', 'score': 0.18}]
chr1 GH01I175408 175408039 175408170 0.2 [{'connected_gene': 'GC01P175473', 'score': 0.2}, {'connected_gene': 'GC01M175315', 'score': 0.17}, {'connected_gene': 'TNR', 'score': 0.05}]
chr1 GH01I175597 175597289 175600104 1.08 [{'connected_gene': 'GC01M175593', 'score': 550.77}, {'connected_gene': 'GC01P175626', 'score': 0.31}, {'connected_gene': 'GC01P175625', 'score': 0.31}, {'connected_gene': 'TNR', 'score': 0.11}]
chr1 GH01I175422 175422245 175422394 0.2 [{'connected_gene': 'GC01P175473', 'score': 0.23}, {'connected_gene': 'GC01M175315', 'score': 0.15}, {'connected_gene': 'TNR', 'score': 0.05}]
chr1 GH01I175687 175687038 175687162 0.22 [{'connected_gene': 'GC01M175668', 'score': 550.77}, {'connected_gene': 'TNR', 'score': 13.78}]
chr1 GH01I175419 175419739 175421094 0.52 [{'connected_gene': 'GC01P175473', 'score': 0.23}, {'connected_gene': 'GC01M175315', 'score': 0.15}, {'connected_gene': 'TNR', 'score': 0.05}]
chr1 GH01I175407 175407012 175407131 0.2 [{'connected_gene': 'GC01P175473', 'score': 0.2}, {'connected_gene': 'GC01M175315', 'score': 0.17}, {'connected_gene': 'TNR', 'score': 0.05}]
chr1 GH01I175342 175341160 175341166 0.22 [{'connected_gene': 'GC01M175315', 'score': 0.34}, {'connected_gene': 'GC01P175473', 'score': 0.12}, {'connected_gene': 'TNR', 'score': 0.05}]
chr1 GH01I175409 175409379 175409490 0.38 [{'connected_gene': 'GC01P175473', 'score': 0.21}, {'connected_gene': 'GC01M175315', 'score': 0.17}, {'connected_gene': 'TNR', 'score': 0.06}]
chr1 GH01I175610 175610092 175610436 0.22 [{'connected_gene': 'GC01M175593', 'score': 0.39}, {'connected_gene': 'GC01P175626', 'score': 0.37}, {'connected_gene': 'GC01P175625', 'score': 0.37}, {'connected_gene': 'TNR', 'score': 0.12}]
chr1 GH01I175572 175572819 175575328 0.95 [{'connected_gene': 'GC01M175557', 'score': 550.77}, {'connected_gene': 'MRPS14', 'score': 29.62}, {'connected_gene': 'TNR', 'score': 10.18}, {'connected_gene': 'TNR-IT1', 'score': 0.37}]
chr1 GH01I175332 175332025 175332174 0.2 [{'connected_gene': 'GC01M175315', 'score': 0.39}, {'connected_gene': 'LOC105371623', 'score': 0.34}, {'connected_gene': 'GC01P175473', 'score': 0.11}, {'connected_gene': 'TNR', 'score': 0.05}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.