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
ENST00000324331 [[5261276, 5261591], [5368782, 5369415], [5404774, 5404934], [5431273, 5431405], [5545412, 5545573], [5613401, 5613553], [5771523, 5771662]] [[5368803, 5369415], [5404774, 5404934], [5431273, 5431405], [5545412, 5545573], [5613401, 5613553], [5771523, 5771662]]
ENST00000274680 [[5261758, 5261893], [5368782, 5369415], [5404774, 5404934], [5431273, 5431405], [5545412, 5545573], [5613401, 5613553], [5771523, 5771813]] [[5368803, 5369415], [5404774, 5404934], [5431273, 5431405], [5545412, 5545573], [5613401, 5613553], [5771523, 5771662]]
ENST00000602691 [[5261558, 5261893], [5272658, 5272722], [5368782, 5368945]] [[5368803, 5368945]]
ENST00000445533 [[5404774, 5404934], [5431273, 5431405], [5431901, 5432043]] [[5404774, 5404934], [5431273, 5431405], [5431901, 5431915]]
NM_001318872 [[5261250, 5261591], [5368782, 5369415], [5404774, 5404934], [5431273, 5431405], [5545412, 5545573], [5613401, 5613553], [5771523, 5771825]] [[5368803, 5369415], [5404774, 5404934], [5431273, 5431405], [5545412, 5545573], [5613401, 5613553], [5771523, 5771662]]
NM_006567 [[5261558, 5261893], [5368782, 5369415], [5404774, 5404934], [5431273, 5431405], [5545412, 5545573], [5613401, 5613553], [5771523, 5771825]] [[5368803, 5369415], [5404774, 5404934], [5431273, 5431405], [5545412, 5545573], [5613401, 5613553], [5771523, 5771662]]
Promoter
Chrom Start End Description
chr6 5261225 5261270 CAGE_peak_2_at_FARS2_5end
chr6 5261730 5261795 CAGE_peak_1_at_FARS2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I004343 4343264 4346162 0.72 [{'connected_gene': 'CDYL', 'score': 31.56}, {'connected_gene': 'PRPF4B', 'score': 15.64}, {'connected_gene': 'LYRM4-AS1', 'score': 12.19}, {'connected_gene': 'FARS2', 'score': 10.53}, {'connected_gene': 'PSMC1P11', 'score': 9.9}, {'connected_gene': 'LOC101927888', 'score': 0.77}, {'connected_gene': 'GC06P004318', 'score': 0.31}, {'connected_gene': 'PIR45023', 'score': 0.31}]
chr6 GH06I005259 5259078 5262815 2.27 [{'connected_gene': 'LYRM4', 'score': 568.12}, {'connected_gene': 'FARS2', 'score': 550.77}, {'connected_gene': 'CDYL', 'score': 10.94}, {'connected_gene': 'GC06M005233', 'score': 0.31}]
chr6 GH06I005230 5230148 5231560 1.04 [{'connected_gene': 'LYRM4', 'score': 12.07}, {'connected_gene': 'FARS2', 'score': 12.07}, {'connected_gene': 'GC06P005234', 'score': 0.77}, {'connected_gene': 'GC06M005169', 'score': 0.22}, {'connected_gene': 'LYRM4-AS1', 'score': 0.07}]
chr6 GH06I005214 5214295 5216618 0.84 [{'connected_gene': 'LYRM4', 'score': 19.48}, {'connected_gene': 'FARS2', 'score': 11.5}, {'connected_gene': 'GC06P005234', 'score': 0.37}, {'connected_gene': 'GC06M005169', 'score': 0.26}, {'connected_gene': 'LYRM4-AS1', 'score': 0.08}]
chr6 GH06I005203 5203645 5207142 1.43 [{'connected_gene': 'LYRM4', 'score': 9.71}, {'connected_gene': 'FARS2', 'score': 5.93}, {'connected_gene': 'GC06P005234', 'score': 0.31}, {'connected_gene': 'GC06M005169', 'score': 0.29}, {'connected_gene': 'LYRM4-AS1', 'score': 0.08}]
chr6 GH06I005207 5207842 5209687 0.63 [{'connected_gene': 'LYRM4', 'score': 8.25}, {'connected_gene': 'FARS2', 'score': 5.08}, {'connected_gene': 'GC06P005234', 'score': 0.31}, {'connected_gene': 'GC06M005169', 'score': 0.28}, {'connected_gene': 'LYRM4-AS1', 'score': 0.08}]
chr6 GH06I005282 5282201 5282400 0.57 [{'connected_gene': 'LYRM4', 'score': 5.22}, {'connected_gene': 'ENSG00000220446', 'score': 0.44}, {'connected_gene': 'GC06P005274', 'score': 0.44}, {'connected_gene': 'FARS2', 'score': 0.34}]
chr6 GH06I005270 5270772 5273215 0.58 [{'connected_gene': 'LYRM4', 'score': 11.83}, {'connected_gene': 'FARS2', 'score': 5.81}, {'connected_gene': 'GC06P005274', 'score': 0.77}]
chr6 GH06I005293 5293742 5295228 1.28 [{'connected_gene': 'LYRM4', 'score': 9.12}, {'connected_gene': 'ENSG00000220446', 'score': 0.77}, {'connected_gene': 'GC06M005312', 'score': 0.34}, {'connected_gene': 'FARS2', 'score': 0.29}]
chr6 GH06I005266 5266567 5266811 0.49 [{'connected_gene': 'LYRM4', 'score': 6.09}, {'connected_gene': 'GC06P005274', 'score': 0.44}, {'connected_gene': 'FARS2', 'score': 0.44}]
chr6 GH06I005278 5278016 5279940 0.57 [{'connected_gene': 'LYRM4', 'score': 5.88}, {'connected_gene': 'GC06P005274', 'score': 0.77}, {'connected_gene': 'ENSG00000220446', 'score': 0.39}, {'connected_gene': 'FARS2', 'score': 0.37}]
chr6 GH06I005288 5288000 5288201 0.54 [{'connected_gene': 'LYRM4', 'score': 5.09}, {'connected_gene': 'ENSG00000220446', 'score': 0.77}, {'connected_gene': 'GC06P005274', 'score': 0.39}, {'connected_gene': 'FARS2', 'score': 0.31}]
chr6 GH06I005506 5506079 5508066 0.92 [{'connected_gene': 'NRN1', 'score': 10.13}, {'connected_gene': 'GC06P005502', 'score': 0.77}, {'connected_gene': 'GC06M005498', 'score': 0.44}, {'connected_gene': 'FARS2', 'score': 0.07}]
chr6 GH06I005470 5470965 5471400 0.87 [{'connected_gene': 'NRN1', 'score': 10.93}, {'connected_gene': 'LOC101927972', 'score': 0.39}, {'connected_gene': 'GC06P005502', 'score': 0.29}, {'connected_gene': 'FARS2', 'score': 0.08}]
chr6 GH06I005471 5471660 5472548 0.54 [{'connected_gene': 'NRN1', 'score': 10.93}, {'connected_gene': 'LOC101927972', 'score': 7.97}, {'connected_gene': 'GC06P005502', 'score': 0.29}, {'connected_gene': 'FARS2', 'score': 0.08}]
chr6 GH06I005665 5665093 5666177 0.2 [{'connected_gene': 'NRN1', 'score': 9.82}, {'connected_gene': 'GC06P005668', 'score': 0.77}, {'connected_gene': 'GC06P005659', 'score': 0.44}, {'connected_gene': 'GC06M005657', 'score': 0.34}, {'connected_gene': 'LOC101927950', 'score': 0.31}, {'connected_gene': 'FARS2', 'score': 0.05}]
chr6 GH06I005723 5723299 5724915 1.49 [{'connected_gene': 'F13A1', 'score': 8.85}, {'connected_gene': 'LOC101927972', 'score': 4.88}, {'connected_gene': 'GC06M005726', 'score': 0.77}, {'connected_gene': 'GC06M005708', 'score': 0.44}, {'connected_gene': 'GC06P005718', 'score': 0.44}, {'connected_gene': 'FARS2', 'score': 0.04}]
chr6 GH06I005456 5456937 5457468 0.58 [{'connected_gene': 'LOC101927972', 'score': 561.16}, {'connected_gene': 'PPP1R3G', 'score': 4.76}, {'connected_gene': 'GC06P005402', 'score': 0.23}, {'connected_gene': 'FARS2', 'score': 0.08}]
chr6 GH06I005466 5466600 5466801 0.59 [{'connected_gene': 'LOC101927972', 'score': 0.44}, {'connected_gene': 'GC06P005502', 'score': 0.28}, {'connected_gene': 'FARS2', 'score': 0.08}]
chr6 GH06I005438 5438730 5439872 0.52 [{'connected_gene': 'LOC101927972', 'score': 0.37}, {'connected_gene': 'GC06P005402', 'score': 0.28}, {'connected_gene': 'FARS2', 'score': 0.1}]
chr6 GH06I005458 5458022 5459077 0.64 [{'connected_gene': 'LOC101927972', 'score': 557.86}, {'connected_gene': 'GC06P005502', 'score': 0.26}, {'connected_gene': 'FARS2', 'score': 0.08}]
chr6 GH06I005699 5699620 5700442 0.2 [{'connected_gene': 'LOC101927950', 'score': 0.77}, {'connected_gene': 'GC06P005718', 'score': 0.37}, {'connected_gene': 'FARS2', 'score': 0.05}]
chr6 GH06I005698 5698801 5699401 0.51 [{'connected_gene': 'LOC101927950', 'score': 0.77}, {'connected_gene': 'GC06P005718', 'score': 0.37}, {'connected_gene': 'FARS2', 'score': 0.05}]
chr6 GH06I005513 5513523 5513789 0.66 [{'connected_gene': 'GC06M005498', 'score': 550.77}, {'connected_gene': 'NRN1', 'score': 9.61}, {'connected_gene': 'GC06P005502', 'score': 0.39}, {'connected_gene': 'FARS2', 'score': 0.07}]
chr6 GH06I005718 5718028 5720948 0.2 [{'connected_gene': 'GC06P005718', 'score': 550.77}, {'connected_gene': 'F13A1', 'score': 8.85}, {'connected_gene': 'GC06M005726', 'score': 0.44}, {'connected_gene': 'GC06M005708', 'score': 0.39}, {'connected_gene': 'FARS2', 'score': 0.05}]
chr6 GH06I005302 5302802 5303674 1.05 [{'connected_gene': 'GC06M005312', 'score': 0.39}, {'connected_gene': 'ENSG00000220446', 'score': 0.39}, {'connected_gene': 'FARS2', 'score': 0.26}]
chr6 GH06I005517 5517388 5518393 0.31 [{'connected_gene': 'GC06M005498', 'score': 0.77}, {'connected_gene': 'GC06P005523', 'score': 0.44}, {'connected_gene': 'FARS2', 'score': 0.07}]
chr6 GH06I005657 5657402 5658671 0.51 [{'connected_gene': 'GC06P005659', 'score': 550.77}, {'connected_gene': 'GC06P005652', 'score': 0.44}, {'connected_gene': 'GC06M005657', 'score': 0.31}, {'connected_gene': 'FARS2', 'score': 0.05}]
chr6 GH06I005581 5581401 5581800 0.2 [{'connected_gene': 'GC06M005542', 'score': 0.39}, {'connected_gene': 'GC06P005523', 'score': 0.22}, {'connected_gene': 'FARS2', 'score': 0.05}]
chr6 GH06I005338 5338226 5340915 0.43 [{'connected_gene': 'GC06P005321', 'score': 0.37}, {'connected_gene': 'GC06P005360', 'score': 0.34}, {'connected_gene': 'FARS2', 'score': 0.18}]
chr6 GH06I005518 5518588 5520250 0.49 [{'connected_gene': 'GC06P005523', 'score': 0.77}, {'connected_gene': 'GC06M005498', 'score': 0.77}, {'connected_gene': 'FARS2', 'score': 0.07}]
chr6 GH06I005644 5644568 5644697 0.31 [{'connected_gene': 'GC06P005652', 'score': 0.44}, {'connected_gene': 'GC06M005625', 'score': 0.39}, {'connected_gene': 'FARS2', 'score': 0.05}]
chr6 GH06I005541 5541112 5542839 1.03 [{'connected_gene': 'GC06P005523', 'score': 0.37}, {'connected_gene': 'GC06M005542', 'score': 0.23}, {'connected_gene': 'FARS2', 'score': 0.06}]
chr6 GH06I005334 5334395 5335077 0.6 [{'connected_gene': 'GC06P005321', 'score': 0.39}, {'connected_gene': 'GC06P005360', 'score': 0.31}, {'connected_gene': 'FARS2', 'score': 0.19}]
chr6 GH06I005537 5537649 5539091 0.31 [{'connected_gene': 'GC06P005523', 'score': 0.37}, {'connected_gene': 'GC06M005542', 'score': 0.23}, {'connected_gene': 'FARS2', 'score': 0.06}]
chr6 GH06I005364 5364592 5367168 0.31 [{'connected_gene': 'GC06P005360', 'score': 0.44}, {'connected_gene': 'GC06P005402', 'score': 0.28}, {'connected_gene': 'FARS2', 'score': 0.15}]
chr6 GH06I005287 5287201 5287929 0.81 [{'connected_gene': 'ENSG00000220446', 'score': 0.77}, {'connected_gene': 'GC06P005274', 'score': 0.39}, {'connected_gene': 'FARS2', 'score': 0.31}]
chr6 GH06I005540 5540528 5540617 0.2 [{'connected_gene': 'GC06P005523', 'score': 0.37}, {'connected_gene': 'GC06M005542', 'score': 0.23}, {'connected_gene': 'FARS2', 'score': 0.06}]
chr6 GH06I005762 5762804 5766496 0.8 [{'connected_gene': 'GC06P005760', 'score': 0.77}, {'connected_gene': 'GC06P005767', 'score': 0.77}, {'connected_gene': 'GC06M005755', 'score': 0.44}, {'connected_gene': 'FARS2', 'score': 0.03}]
chr6 GH06I005751 5751422 5753154 0.76 [{'connected_gene': 'GC06P005750', 'score': 550.77}, {'connected_gene': 'GC06M005758', 'score': 0.44}, {'connected_gene': 'FARS2', 'score': 0.04}]
chr6 GH06I005315 5315507 5315566 0.61 [{'connected_gene': 'GC06M005312', 'score': 550.77}, {'connected_gene': 'FARS2', 'score': 550.23}, {'connected_gene': 'ENSG00000220446', 'score': 0.34}]
chr6 GH06I005361 5361088 5361915 0.63 [{'connected_gene': 'GC06P005360', 'score': 550.77}, {'connected_gene': 'GC06P005402', 'score': 0.26}, {'connected_gene': 'FARS2', 'score': 0.15}]
chr6 GH06I005303 5302308 5302457 0.84 [{'connected_gene': 'GC06M005312', 'score': 0.39}, {'connected_gene': 'ENSG00000220446', 'score': 0.39}, {'connected_gene': 'FARS2', 'score': 0.26}]
chr6 GH06I005499 5499688 5499837 0.38 [{'connected_gene': 'GC06P005502', 'score': 0.77}, {'connected_gene': 'GC06M005498', 'score': 0.37}, {'connected_gene': 'LOC101927972', 'score': 0.26}, {'connected_gene': 'FARS2', 'score': 0.07}]
chr6 GH06I005497 5497742 5499634 0.76 [{'connected_gene': 'GC06P005502', 'score': 0.77}, {'connected_gene': 'GC06M005498', 'score': 0.37}, {'connected_gene': 'LOC101927972', 'score': 0.26}, {'connected_gene': 'FARS2', 'score': 0.07}]
chr6 GH06I005412 5412108 5412257 0.43 [{'connected_gene': 'GC06P005402', 'score': 0.44}, {'connected_gene': 'LOC101927972', 'score': 0.25}, {'connected_gene': 'FARS2', 'score': 0.1}]
chr6 GH06I005700 5700564 5708758 0.46 [{'connected_gene': 'ENSG00000216360', 'score': 5.19}, {'connected_gene': 'LOC101927950', 'score': 0.44}, {'connected_gene': 'GC06P005718', 'score': 0.39}, {'connected_gene': 'GC06M005708', 'score': 0.31}, {'connected_gene': 'FARS2', 'score': 0.04}]
chr6 GH06I005692 5692219 5693121 0.2 [{'connected_gene': 'GC06P005694', 'score': 0.77}, {'connected_gene': 'LOC101927950', 'score': 0.77}, {'connected_gene': 'GC06M005657', 'score': 0.44}, {'connected_gene': 'FARS2', 'score': 0.04}]
chr6 GH06I005667 5667578 5668219 0.2 [{'connected_gene': 'GC06P005668', 'score': 550.77}, {'connected_gene': 'GC06M005668', 'score': 550.77}, {'connected_gene': 'GC06P005659', 'score': 0.44}, {'connected_gene': 'GC06M005657', 'score': 0.37}, {'connected_gene': 'LOC101927950', 'score': 0.31}, {'connected_gene': 'FARS2', 'score': 0.05}]
chr6 GH06I005708 5708794 5711194 0.31 [{'connected_gene': 'ENSG00000216360', 'score': 5.01}, {'connected_gene': 'GC06P005718', 'score': 0.44}, {'connected_gene': 'LOC101927950', 'score': 0.39}, {'connected_gene': 'GC06M005708', 'score': 0.34}, {'connected_gene': 'FARS2', 'score': 0.05}]
chr6 GH06I005694 5694828 5696200 0.6 [{'connected_gene': 'GC06P005694', 'score': 550.77}, {'connected_gene': 'LOC101927950', 'score': 550.77}, {'connected_gene': 'GC06P005718', 'score': 0.34}, {'connected_gene': 'FARS2', 'score': 0.04}]
chr6 GH06I005669 5669927 5673497 1.16 [{'connected_gene': 'GC06P005673', 'score': 550.77}, {'connected_gene': 'GC06M005668', 'score': 0.77}, {'connected_gene': 'GC06M005657', 'score': 0.39}, {'connected_gene': 'LOC101927950', 'score': 0.34}, {'connected_gene': 'FARS2', 'score': 0.05}]
chr6 GH06I005684 5684192 5685084 0.31 [{'connected_gene': 'GC06M005657', 'score': 550.77}, {'connected_gene': 'GC06M005684', 'score': 550.77}, {'connected_gene': 'GC06P005678', 'score': 0.44}, {'connected_gene': 'LOC101927950', 'score': 0.39}, {'connected_gene': 'FARS2', 'score': 0.05}]
chr6 GH06I005712 5712055 5713421 0.43 [{'connected_gene': 'GC06P005718', 'score': 0.44}, {'connected_gene': 'GC06M005708', 'score': 0.37}, {'connected_gene': 'LOC101927950', 'score': 0.37}, {'connected_gene': 'FARS2', 'score': 0.05}]
chr6 GH06I005680 5680001 5680400 0.4 [{'connected_gene': 'GC06P005678', 'score': 550.77}, {'connected_gene': 'GC06M005657', 'score': 0.44}, {'connected_gene': 'GC06M005684', 'score': 0.44}, {'connected_gene': 'LOC101927950', 'score': 0.37}, {'connected_gene': 'FARS2', 'score': 0.05}]
chr6 GH06I005626 5626861 5627717 0.72 [{'connected_gene': 'GC06M005625', 'score': 0.44}, {'connected_gene': 'HNRNPA1P37', 'score': 0.37}, {'connected_gene': 'FARS2', 'score': 0.05}]

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