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
ENST00000367459 [[192544856, 192545059], [192545414, 192545495], [192545903, 192545965], [192547351, 192547515], [192548266, 192549161]] [[192544922, 192545059], [192545414, 192545495], [192545903, 192545965], [192547351, 192547515], [192548266, 192548452]]
ENST00000474373 [[192544892, 192545059], [192545903, 192546406]] None
ENST00000462589 [[192544902, 192545059], [192545414, 192545896]] None
ENST00000583155 [[192544902, 192545495], [192545903, 192545954]] None
ENST00000469578 [[192544902, 192545059], [192545414, 192545495], [192545903, 192545965], [192547351, 192548085]] [[192544922, 192545059], [192545414, 192545495], [192545903, 192545965], [192547351, 192547581]]
ENST00000498352 [[192544904, 192545059], [192545414, 192545495], [192545903, 192547515], [192548266, 192549071]] None
NM_002922 [[192544856, 192545059], [192545414, 192545495], [192545903, 192545965], [192547351, 192547515], [192548266, 192549159]] [[192544922, 192545059], [192545414, 192545495], [192545903, 192545965], [192547351, 192547515], [192548266, 192548452]]
Promoter
Chrom Start End Description
chr1 192544895 192544912 CAGE_peak_1_at_RGS1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I192639 192639116 192641080 1.11 [{'connected_gene': 'RGS13', 'score': 27.05}, {'connected_gene': 'RGS1', 'score': 2.95}, {'connected_gene': 'RGS2', 'score': 1.35}, {'connected_gene': 'RPS27AP5', 'score': 0.18}]
chr1 GH01I192866 192866311 192866553 0.22 [{'connected_gene': 'RGS13', 'score': 14.1}, {'connected_gene': 'RGS1', 'score': 1.68}, {'connected_gene': 'RN7SKP126', 'score': 0.44}, {'connected_gene': 'LOC105371667', 'score': 0.39}, {'connected_gene': 'GC01P192837', 'score': 0.31}]
chr1 GH01I192614 192614337 192614348 0.39 [{'connected_gene': 'RGS13', 'score': 11.41}, {'connected_gene': 'RGS1', 'score': 1.43}, {'connected_gene': 'LOC105371664', 'score': 0.39}, {'connected_gene': 'GC01P192596', 'score': 0.37}]
chr1 GH01I192805 192805951 192811795 2.52 [{'connected_gene': 'RGS2', 'score': 567.86}, {'connected_gene': 'ENSG00000231767', 'score': 10.08}, {'connected_gene': 'CDC73', 'score': 8.09}, {'connected_gene': 'RGS1', 'score': 5.3}, {'connected_gene': 'TROVE2', 'score': 2.28}, {'connected_gene': 'LOC100130137', 'score': 0.44}]
chr1 GH01I192877 192877401 192879687 0.98 [{'connected_gene': 'RGS2', 'score': 37.34}, {'connected_gene': 'RGS1', 'score': 10.11}, {'connected_gene': 'CDC73', 'score': 8.13}, {'connected_gene': 'TROVE2', 'score': 1.71}, {'connected_gene': 'RN7SKP126', 'score': 0.77}, {'connected_gene': 'GC01P192837', 'score': 0.26}, {'connected_gene': 'LINC01032', 'score': 0.2}]
chr1 GH01I192906 192906305 192909055 0.83 [{'connected_gene': 'RGS2', 'score': 17.76}, {'connected_gene': 'RGS1', 'score': 10.07}, {'connected_gene': 'CDC73', 'score': 5.02}, {'connected_gene': 'TROVE2', 'score': 2.31}, {'connected_gene': 'RN7SKP126', 'score': 0.29}, {'connected_gene': 'LINC01032', 'score': 0.26}, {'connected_gene': 'GC01P192837', 'score': 0.2}]
chr1 GH01I192945 192945507 192945642 0.28 [{'connected_gene': 'RGS1', 'score': 8.74}, {'connected_gene': 'CDC73', 'score': 3.55}, {'connected_gene': 'RGS2', 'score': 3.27}, {'connected_gene': 'TROVE2', 'score': 2.15}, {'connected_gene': 'LINC01032', 'score': 0.77}, {'connected_gene': 'RN7SKP126', 'score': 0.2}]
chr1 GH01I192580 192580483 192580765 1.21 [{'connected_gene': 'RGS1', 'score': 14.64}, {'connected_gene': 'LOC647150', 'score': 13.07}, {'connected_gene': 'TROVE2', 'score': 11.17}, {'connected_gene': 'CDC73', 'score': 10.03}, {'connected_gene': 'RGS2', 'score': 1.28}, {'connected_gene': 'GC01P192596', 'score': 0.37}, {'connected_gene': 'LOC105371664', 'score': 0.25}]
chr1 GH01I192608 192608734 192610052 1.55 [{'connected_gene': 'RGS1', 'score': 14.1}, {'connected_gene': 'RGS13', 'score': 11.38}, {'connected_gene': 'TROVE2', 'score': 2.16}, {'connected_gene': 'RGS2', 'score': 1.77}, {'connected_gene': 'GC01P192596', 'score': 0.39}, {'connected_gene': 'LOC105371664', 'score': 0.37}]
chr1 GH01I192488 192488620 192490797 1.1 [{'connected_gene': 'RGS1', 'score': 3.59}, {'connected_gene': 'RGS13', 'score': 1.68}, {'connected_gene': 'RGS2', 'score': 1.24}, {'connected_gene': 'ENSG00000236069', 'score': 0.28}, {'connected_gene': 'GC01P192448', 'score': 0.26}]
chr1 GH01I192902 192902845 192906224 1.01 [{'connected_gene': 'RGS1', 'score': 12.3}, {'connected_gene': 'RGS2', 'score': 12.24}, {'connected_gene': 'CDC73', 'score': 1.55}, {'connected_gene': 'TROVE2', 'score': 1.25}, {'connected_gene': 'RN7SKP126', 'score': 0.31}, {'connected_gene': 'LINC01032', 'score': 0.26}, {'connected_gene': 'GC01P192837', 'score': 0.2}]
chr1 GH01I192788 192788154 192788600 0.96 [{'connected_gene': 'RGS1', 'score': 8.01}, {'connected_gene': 'RGS2', 'score': 6.04}, {'connected_gene': 'CDC73', 'score': 1.66}, {'connected_gene': 'TROVE2', 'score': 1.65}, {'connected_gene': 'LOC105371665', 'score': 0.77}, {'connected_gene': 'MIR4426', 'score': 0.19}]
chr1 GH01I192789 192789966 192790181 0.48 [{'connected_gene': 'RGS1', 'score': 8.48}, {'connected_gene': 'RGS2', 'score': 1.61}, {'connected_gene': 'CDC73', 'score': 1.33}, {'connected_gene': 'TROVE2', 'score': 1.17}, {'connected_gene': 'LOC105371665', 'score': 0.77}, {'connected_gene': 'MIR4426', 'score': 0.19}]
chr1 GH01I192549 192549283 192551799 1.45 [{'connected_gene': 'RGS1', 'score': 22.27}, {'connected_gene': 'ENSG00000231767', 'score': 4.73}, {'connected_gene': 'RGS2', 'score': 1.15}, {'connected_gene': 'ENSG00000236069', 'score': 0.34}, {'connected_gene': 'LOC105371664', 'score': 0.18}]
chr1 GH01I192476 192476414 192477413 1.31 [{'connected_gene': 'RGS1', 'score': 24.58}, {'connected_gene': 'RGS2', 'score': 1.22}, {'connected_gene': 'GC01P192448', 'score': 0.31}, {'connected_gene': 'ENSG00000236069', 'score': 0.23}]
chr1 GH01I192605 192605050 192605364 1.23 [{'connected_gene': 'RGS1', 'score': 20.76}, {'connected_gene': 'LOC105371664', 'score': 11.29}, {'connected_gene': 'RGS13', 'score': 10.46}, {'connected_gene': 'TROVE2', 'score': 1.83}, {'connected_gene': 'RGS2', 'score': 1.77}, {'connected_gene': 'GC01P192596', 'score': 0.44}]
chr1 GH01I192512 192512419 192513001 1.21 [{'connected_gene': 'RGS1', 'score': 24.09}, {'connected_gene': 'LOC105371664', 'score': 11.41}, {'connected_gene': 'RGS2', 'score': 1.2}, {'connected_gene': 'ENSG00000236069', 'score': 0.37}, {'connected_gene': 'GC01P192448', 'score': 0.21}]
chr1 GH01I192521 192521749 192522014 0.8 [{'connected_gene': 'RGS1', 'score': 24.02}, {'connected_gene': 'LOC105371664', 'score': 11.47}, {'connected_gene': 'ENSG00000236069', 'score': 0.44}, {'connected_gene': 'GC01P192448', 'score': 0.19}]
chr1 GH01I192557 192557606 192561134 1.2 [{'connected_gene': 'RGS1', 'score': 17.3}, {'connected_gene': 'LOC105371664', 'score': 12.77}, {'connected_gene': 'ENSG00000231767', 'score': 4.81}, {'connected_gene': 'ENSG00000236069', 'score': 0.31}]
chr1 GH01I192506 192506609 192507795 0.65 [{'connected_gene': 'RGS1', 'score': 11.49}, {'connected_gene': 'LOC105371664', 'score': 11.28}, {'connected_gene': 'ENSG00000236069', 'score': 0.34}, {'connected_gene': 'GC01P192448', 'score': 0.22}]
chr1 GH01I192601 192600288 192600618 0.22 [{'connected_gene': 'RGS1', 'score': 14.6}, {'connected_gene': 'LOC105371664', 'score': 11.45}, {'connected_gene': 'GC01P192596', 'score': 0.77}]
chr1 GH01I192574 192574170 192574378 0.49 [{'connected_gene': 'RGS1', 'score': 562.27}, {'connected_gene': 'ENSG00000236069', 'score': 0.26}, {'connected_gene': 'LOC105371664', 'score': 0.23}]
chr1 GH01I192562 192561286 192561884 0.31 [{'connected_gene': 'RGS1', 'score': 17.37}, {'connected_gene': 'LOC105371664', 'score': 11.67}, {'connected_gene': 'ENSG00000236069', 'score': 0.29}]
chr1 GH01I192554 192554975 192555241 0.88 [{'connected_gene': 'RGS1', 'score': 16.22}, {'connected_gene': 'ENSG00000236069', 'score': 0.31}, {'connected_gene': 'LOC105371664', 'score': 0.19}]
chr1 GH01I192573 192573622 192573807 0.69 [{'connected_gene': 'RGS1', 'score': 14.37}, {'connected_gene': 'ENSG00000236069', 'score': 0.26}, {'connected_gene': 'LOC105371664', 'score': 0.22}]
chr1 GH01I192536 192536320 192536582 0.54 [{'connected_gene': 'RGS1', 'score': 13.41}, {'connected_gene': 'ENSG00000236069', 'score': 0.44}, {'connected_gene': 'LOC105371664', 'score': 0.16}]
chr1 GH01I192571 192571344 192572379 0.38 [{'connected_gene': 'RGS1', 'score': 19.05}, {'connected_gene': 'ENSG00000236069', 'score': 0.26}, {'connected_gene': 'LOC105371664', 'score': 0.22}]
chr1 GH01I192577 192577001 192579000 0.89 [{'connected_gene': 'RGS1', 'score': 0.77}, {'connected_gene': 'GC01P192596', 'score': 0.37}, {'connected_gene': 'LOC105371664', 'score': 0.23}]
chr1 GH01I192575 192575091 192576807 1.73 [{'connected_gene': 'RGS1', 'score': 567.64}, {'connected_gene': 'ENSG00000231767', 'score': 4.71}, {'connected_gene': 'GC01P192596', 'score': 0.34}, {'connected_gene': 'LOC105371664', 'score': 0.23}]
chr1 GH01I192600 192600845 192602325 0.54 [{'connected_gene': 'RGS1', 'score': 11.64}, {'connected_gene': 'LOC105371664', 'score': 10.68}, {'connected_gene': 'GC01P192596', 'score': 0.77}]
chr1 GH01I192544 192544306 192547197 1.44 [{'connected_gene': 'RGS1', 'score': 21.05}, {'connected_gene': 'LOC105371664', 'score': 12.86}, {'connected_gene': 'ENSG00000236069', 'score': 0.37}]
chr1 GH01I192561 192561978 192562956 0.31 [{'connected_gene': 'RGS1', 'score': 16.93}, {'connected_gene': 'ENSG00000236069', 'score': 0.29}, {'connected_gene': 'LOC105371664', 'score': 0.2}]
chr1 GH01I192569 192569627 192570566 0.38 [{'connected_gene': 'RGS1', 'score': 7.05}, {'connected_gene': 'ENSG00000231767', 'score': 4.72}, {'connected_gene': 'ENSG00000236069', 'score': 0.26}, {'connected_gene': 'LOC105371664', 'score': 0.22}]
chr1 GH01I192579 192579100 192579757 1.15 [{'connected_gene': 'RGS1', 'score': 0.77}, {'connected_gene': 'GC01P192596', 'score': 0.37}, {'connected_gene': 'LOC105371664', 'score': 0.25}]
chr1 GH01I192485 192485446 192486752 0.99 [{'connected_gene': 'RGS1', 'score': 10.73}, {'connected_gene': 'GC01P192448', 'score': 0.28}, {'connected_gene': 'ENSG00000236069', 'score': 0.26}]
chr1 GH01I192591 192591756 192593262 0.2 [{'connected_gene': 'LOC105371664', 'score': 10.95}, {'connected_gene': 'RGS13', 'score': 10.4}, {'connected_gene': 'GC01P192596', 'score': 0.77}, {'connected_gene': 'RGS1', 'score': 0.37}]
chr1 GH01I192628 192628457 192628657 0.41 [{'connected_gene': 'LOC105371664', 'score': 550.77}, {'connected_gene': 'RGS13', 'score': 12.26}, {'connected_gene': 'RGS1', 'score': 1.85}, {'connected_gene': 'GC01P192596', 'score': 0.29}]
chr1 GH01I192515 192515989 192518035 1.59 [{'connected_gene': 'LOC105371664', 'score': 30.67}, {'connected_gene': 'RGS1', 'score': 25.2}, {'connected_gene': 'RGS2', 'score': 1.22}, {'connected_gene': 'ENSG00000236069', 'score': 0.39}, {'connected_gene': 'GC01P192448', 'score': 0.2}]
chr1 GH01I192523 192523870 192524595 0.72 [{'connected_gene': 'LOC105371664', 'score': 11.84}, {'connected_gene': 'RGS1', 'score': 11.49}, {'connected_gene': 'ENSG00000236069', 'score': 0.44}, {'connected_gene': 'GC01P192448', 'score': 0.18}]
chr1 GH01I192509 192509261 192510925 0.31 [{'connected_gene': 'LOC105371664', 'score': 25.9}, {'connected_gene': 'RGS1', 'score': 11.88}, {'connected_gene': 'ENSG00000236069', 'score': 0.37}, {'connected_gene': 'GC01P192448', 'score': 0.21}]
chr1 GH01I192518 192518637 192518975 0.79 [{'connected_gene': 'LOC105371664', 'score': 30.14}, {'connected_gene': 'RGS1', 'score': 24.4}, {'connected_gene': 'ENSG00000236069', 'score': 0.39}, {'connected_gene': 'GC01P192448', 'score': 0.19}]
chr1 GH01I192519 192519302 192521142 0.46 [{'connected_gene': 'LOC105371664', 'score': 29.63}, {'connected_gene': 'RGS1', 'score': 17.92}, {'connected_gene': 'ENSG00000236069', 'score': 0.44}, {'connected_gene': 'GC01P192448', 'score': 0.19}]
chr1 GH01I192538 192538120 192541467 1.16 [{'connected_gene': 'LOC105371664', 'score': 24.85}, {'connected_gene': 'RGS1', 'score': 19.04}, {'connected_gene': 'ENSG00000236069', 'score': 0.39}]
chr1 GH01I192587 192587416 192588693 0.2 [{'connected_gene': 'LOC105371664', 'score': 11.07}, {'connected_gene': 'GC01P192596', 'score': 0.44}, {'connected_gene': 'RGS1', 'score': 0.39}]
chr1 GH01I192552 192552104 192553882 1.17 [{'connected_gene': 'LOC105371664', 'score': 14.04}, {'connected_gene': 'ENSG00000231767', 'score': 4.72}, {'connected_gene': 'RGS1', 'score': 4.44}, {'connected_gene': 'ENSG00000236069', 'score': 0.34}]
chr1 GH01I192533 192533349 192535663 0.2 [{'connected_gene': 'LOC105371664', 'score': 15.04}, {'connected_gene': 'ENSG00000236069', 'score': 0.77}, {'connected_gene': 'RGS1', 'score': 0.26}]
chr1 GH01I192589 192589177 192591207 0.38 [{'connected_gene': 'LOC105371664', 'score': 10.95}, {'connected_gene': 'GC01P192596', 'score': 0.44}, {'connected_gene': 'RGS1', 'score': 0.39}]
chr1 GH01I192593 192593543 192593750 0.44 [{'connected_gene': 'LOC105371664', 'score': 10.87}, {'connected_gene': 'RGS1', 'score': 5.93}, {'connected_gene': 'GC01P192596', 'score': 0.77}]
chr1 GH01I192951 192951338 192953145 1.16 [{'connected_gene': 'GC01P192950', 'score': 550.77}, {'connected_gene': 'RGS2', 'score': 19.35}, {'connected_gene': 'RGS1', 'score': 6.2}, {'connected_gene': 'CDC73', 'score': 5.84}, {'connected_gene': 'TROVE2', 'score': 2.57}, {'connected_gene': 'ZNF101P2', 'score': 0.26}]
chr1 GH01I192547 192547456 192548195 0.43 [{'connected_gene': 'ENSG00000236069', 'score': 0.37}, {'connected_gene': 'RGS1', 'score': 0.31}, {'connected_gene': 'LOC105371664', 'score': 0.18}]
chr1 GH01I192594 192594982 192596765 0.2 [{'connected_gene': 'GC01P192596', 'score': 550.77}, {'connected_gene': 'LOC105371664', 'score': 11.43}, {'connected_gene': 'RGS1', 'score': 11.32}, {'connected_gene': 'RGS13', 'score': 10.4}]
chr1 GH01I192527 192527165 192528330 0.38 [{'connected_gene': 'ENSG00000236069', 'score': 550.77}, {'connected_gene': 'LOC105371664', 'score': 17.42}, {'connected_gene': 'RGS1', 'score': 11.51}, {'connected_gene': 'GC01P192448', 'score': 0.18}]
chr1 GH01I192597 192597273 192599586 0.31 [{'connected_gene': 'GC01P192596', 'score': 550.77}, {'connected_gene': 'LOC105371664', 'score': 11.43}, {'connected_gene': 'RGS1', 'score': 11.32}]
chr1 GH01I192528 192528942 192531800 1.5 [{'connected_gene': 'ENSG00000236069', 'score': 550.77}, {'connected_gene': 'LOC105371664', 'score': 27.03}, {'connected_gene': 'RGS1', 'score': 23.56}]