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
ENST00000356082 [[209788214, 209788752], [209789815, 209789969], [209790754, 209790931], [209791251, 209791393], [209791796, 209792004], [209795880, 209796025], [209796326, 209796524], [209796849, 209797070], [209797184, 209797345], [209798992, 209799371], [209800211, 209800323], [209800727, 209800924], [209801379, 209801535], [209803081, 209803270], [209803959, 209804080], [209805927, 209806121], [209806414, 209806478], [209807791, 209807983], [209811252, 209811326], [209811878, 209811993], [209823308, 209823463], [209824261, 209824326], [209825713, 209825811]] [[209788615, 209788752], [209789815, 209789969], [209790754, 209790931], [209791251, 209791393], [209791796, 209792004], [209795880, 209796025], [209796326, 209796524], [209796849, 209797070], [209797184, 209797345], [209798992, 209799371], [209800211, 209800323], [209800727, 209800924], [209801379, 209801535], [209803081, 209803270], [209803959, 209804080], [209805927, 209806121], [209806414, 209806478], [209807791, 209807983], [209811252, 209811326], [209811878, 209811993], [209823308, 209823463], [209824261, 209824289]]
ENST00000391911 [[209788219, 209788752], [209789815, 209789969], [209790754, 209790931], [209791251, 209791393], [209791796, 209792004], [209795880, 209796025], [209796326, 209796524], [209796849, 209797070], [209797184, 209797345], [209798992, 209799371], [209800211, 209800323], [209800727, 209800924], [209801379, 209801535], [209803081, 209803270], [209803959, 209804080], [209805927, 209806121], [209806414, 209806478], [209807791, 209807983], [209811252, 209811326], [209811878, 209811993], [209823308, 209823463], [209824261, 209824679]] [[209788615, 209788752], [209789815, 209789969], [209790754, 209790931], [209791251, 209791393], [209791796, 209792004], [209795880, 209796025], [209796326, 209796524], [209796849, 209797070], [209797184, 209797345], [209798992, 209799371], [209800211, 209800323], [209800727, 209800924], [209801379, 209801535], [209803081, 209803270], [209803959, 209804080], [209805927, 209806121], [209806414, 209806478], [209807791, 209807983], [209811252, 209811326], [209811878, 209811993], [209823308, 209823463], [209824261, 209824289]]
ENST00000367030 [[209788321, 209788752], [209789815, 209789969], [209790754, 209790931], [209791251, 209791393], [209791796, 209792004], [209795880, 209796025], [209796326, 209796524], [209796849, 209797070], [209797184, 209797345], [209798992, 209799371], [209800211, 209800323], [209800727, 209800924], [209801379, 209801535], [209803081, 209803270], [209803959, 209804080], [209805927, 209806121], [209806414, 209806478], [209807791, 209807983], [209811252, 209811326], [209811878, 209811993], [209823308, 209823463], [209824261, 209824326], [209825593, 209825674]] [[209788615, 209788752], [209789815, 209789969], [209790754, 209790931], [209791251, 209791393], [209791796, 209792004], [209795880, 209796025], [209796326, 209796524], [209796849, 209797070], [209797184, 209797345], [209798992, 209799371], [209800211, 209800323], [209800727, 209800924], [209801379, 209801535], [209803081, 209803270], [209803959, 209804080], [209805927, 209806121], [209806414, 209806478], [209807791, 209807983], [209811252, 209811326], [209811878, 209811993], [209823308, 209823463], [209824261, 209824289]]
ENST00000455193 [[209789925, 209789969], [209790754, 209790931], [209791251, 209791393], [209791796, 209792143]] [[209789925, 209789969], [209790754, 209790931], [209791251, 209791393], [209791796, 209791912]]
ENST00000415782 [[209807791, 209807983], [209811252, 209811326], [209811878, 209811993], [209823308, 209823463], [209824261, 209824326], [209824432, 209824739]] [[209807791, 209807983], [209811252, 209811326], [209811878, 209811993], [209823308, 209823463], [209824261, 209824289]]
NM_001017402 [[209788214, 209788752], [209789815, 209789969], [209790754, 209790931], [209791251, 209791393], [209791796, 209792004], [209795880, 209796025], [209796326, 209796524], [209796849, 209797070], [209797184, 209797345], [209798992, 209799371], [209800211, 209800323], [209800727, 209800924], [209801379, 209801535], [209803081, 209803270], [209803959, 209804080], [209805927, 209806121], [209806414, 209806478], [209807791, 209807983], [209811252, 209811326], [209811878, 209811993], [209823308, 209823463], [209824261, 209824679]] [[209788615, 209788752], [209789815, 209789969], [209790754, 209790931], [209791251, 209791393], [209791796, 209792004], [209795880, 209796025], [209796326, 209796524], [209796849, 209797070], [209797184, 209797345], [209798992, 209799371], [209800211, 209800323], [209800727, 209800924], [209801379, 209801535], [209803081, 209803270], [209803959, 209804080], [209805927, 209806121], [209806414, 209806478], [209807791, 209807983], [209811252, 209811326], [209811878, 209811993], [209823308, 209823463], [209824261, 209824289]]
NM_001127641 [[209788214, 209788752], [209789815, 209789969], [209790754, 209790931], [209791251, 209791393], [209791796, 209792004], [209795880, 209796025], [209796326, 209796524], [209796849, 209797070], [209797184, 209797345], [209798992, 209799371], [209800211, 209800323], [209800727, 209800924], [209801379, 209801535], [209803081, 209803270], [209803959, 209804080], [209805927, 209806121], [209806414, 209806478], [209807791, 209807983], [209811252, 209811326], [209811878, 209811993], [209823308, 209823463], [209824261, 209824326], [209825593, 209825674]] [[209788615, 209788752], [209789815, 209789969], [209790754, 209790931], [209791251, 209791393], [209791796, 209792004], [209795880, 209796025], [209796326, 209796524], [209796849, 209797070], [209797184, 209797345], [209798992, 209799371], [209800211, 209800323], [209800727, 209800924], [209801379, 209801535], [209803081, 209803270], [209803959, 209804080], [209805927, 209806121], [209806414, 209806478], [209807791, 209807983], [209811252, 209811326], [209811878, 209811993], [209823308, 209823463], [209824261, 209824289]]
NM_000228 [[209788214, 209788752], [209789815, 209789969], [209790754, 209790931], [209791251, 209791393], [209791796, 209792004], [209795880, 209796025], [209796326, 209796524], [209796849, 209797070], [209797184, 209797345], [209798992, 209799371], [209800211, 209800323], [209800727, 209800924], [209801379, 209801535], [209803081, 209803270], [209803959, 209804080], [209805927, 209806121], [209806414, 209806478], [209807791, 209807983], [209811252, 209811326], [209811878, 209811993], [209823308, 209823463], [209824261, 209824326], [209825713, 209825820]] [[209788615, 209788752], [209789815, 209789969], [209790754, 209790931], [209791251, 209791393], [209791796, 209792004], [209795880, 209796025], [209796326, 209796524], [209796849, 209797070], [209797184, 209797345], [209798992, 209799371], [209800211, 209800323], [209800727, 209800924], [209801379, 209801535], [209803081, 209803270], [209803959, 209804080], [209805927, 209806121], [209806414, 209806478], [209807791, 209807983], [209811252, 209811326], [209811878, 209811993], [209823308, 209823463], [209824261, 209824289]]
Promoter
Chrom Start End Description
chr1 209792111 209792127 CAGE_peak_8_at_LAMB3_5end
chr1 209792178 209792193 CAGE_peak_12_at_LAMB3_5end
chr1 209824463 209824503 CAGE_peak_3_at_LAMB3_5end
chr1 209824511 209824521 CAGE_peak_7_at_LAMB3_5end
chr1 209824643 209824739 CAGE_peak_2_at_LAMB3_5end
chr1 209825762 209825779 CAGE_peak_1_at_LAMB3_5end
chr1 209825932 209825936 CAGE_peak_10_at_LAMB3_5end
chr1 209826169 209826182 CAGE_peak_4_at_LAMB3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I209765 209765142 209772000 2.06 [{'connected_gene': 'TRAF3IP3', 'score': 567.63}, {'connected_gene': 'G0S2', 'score': 30.7}, {'connected_gene': 'DIEXF', 'score': 11.19}, {'connected_gene': 'ENSG00000224260', 'score': 9.46}, {'connected_gene': 'LAMB3', 'score': 8.64}, {'connected_gene': 'IRF6', 'score': 8.11}, {'connected_gene': 'C1orf74', 'score': 1.74}, {'connected_gene': 'LOC101930114', 'score': 0.39}]
chr1 GH01I209403 209403256 209406942 1.12 [{'connected_gene': 'MIR205HG', 'score': 12.03}, {'connected_gene': 'MIR205', 'score': 12.0}, {'connected_gene': 'LAMB3', 'score': 9.3}, {'connected_gene': 'ENSG00000224260', 'score': 9.1}, {'connected_gene': 'IRF6', 'score': 5.82}, {'connected_gene': 'TFDP1P', 'score': 5.5}, {'connected_gene': 'HSD11B1', 'score': 2.05}, {'connected_gene': 'LINC01698', 'score': 0.28}]
chr1 GH01I209396 209396659 209400628 1.46 [{'connected_gene': 'MIR205HG', 'score': 11.96}, {'connected_gene': 'MIR205', 'score': 11.96}, {'connected_gene': 'TFDP1P', 'score': 4.53}, {'connected_gene': 'LAMB3', 'score': 1.33}, {'connected_gene': 'LINC01698', 'score': 0.29}]
chr1 GH01I209354 209354022 209357551 1.28 [{'connected_gene': 'MIR205HG', 'score': 11.69}, {'connected_gene': 'MIR205', 'score': 11.68}, {'connected_gene': 'TFDP1P', 'score': 10.67}, {'connected_gene': 'ENSG00000224260', 'score': 10.06}, {'connected_gene': 'IRF6', 'score': 5.13}, {'connected_gene': 'LINC01698', 'score': 5.11}, {'connected_gene': 'LAMB3', 'score': 5.1}, {'connected_gene': 'LINC01696', 'score': 0.29}]
chr1 GH01I209634 209634516 209634564 0.2 [{'connected_gene': 'CAMK1G', 'score': 11.24}, {'connected_gene': 'HSD11B1', 'score': 11.01}, {'connected_gene': 'G0S2', 'score': 10.91}, {'connected_gene': 'ENSG00000224260', 'score': 10.86}, {'connected_gene': 'LOC101930114', 'score': 10.77}, {'connected_gene': 'MIR4260', 'score': 0.39}, {'connected_gene': 'LAMB3', 'score': 0.37}]
chr1 GH01I209746 209746325 209748578 1.71 [{'connected_gene': 'G0S2', 'score': 17.68}, {'connected_gene': 'TRAF3IP3', 'score': 11.76}, {'connected_gene': 'LAMB3', 'score': 7.67}, {'connected_gene': 'GC01P209745', 'score': 0.77}, {'connected_gene': 'LOC101930114', 'score': 0.39}]
chr1 GH01I209667 209667819 209668262 0.95 [{'connected_gene': 'G0S2', 'score': 39.16}, {'connected_gene': 'CAMK1G', 'score': 10.68}, {'connected_gene': 'ENSG00000224260', 'score': 10.34}, {'connected_gene': 'LAMB3', 'score': 6.05}, {'connected_gene': 'TRAF3IP3', 'score': 4.48}, {'connected_gene': 'C1orf74', 'score': 2.13}, {'connected_gene': 'LOC101930114', 'score': 0.17}]
chr1 GH01I209641 209641133 209644528 1.12 [{'connected_gene': 'G0S2', 'score': 16.09}, {'connected_gene': 'LAMB3', 'score': 13.07}, {'connected_gene': 'HSD11B1', 'score': 11.12}, {'connected_gene': 'LOC101930114', 'score': 10.81}, {'connected_gene': 'CAMK1G', 'score': 10.74}, {'connected_gene': 'ENSG00000224260', 'score': 10.51}, {'connected_gene': 'MIR4260', 'score': 0.37}]
chr1 GH01I209670 209670029 209671594 0.79 [{'connected_gene': 'G0S2', 'score': 9.55}, {'connected_gene': 'ENSG00000224260', 'score': 9.51}, {'connected_gene': 'LAMB3', 'score': 0.37}, {'connected_gene': 'LOC101930114', 'score': 0.17}]
chr1 GH01I209672 209672349 209676552 2.25 [{'connected_gene': 'G0S2', 'score': 559.81}, {'connected_gene': 'GC01P209677', 'score': 550.77}, {'connected_gene': 'GC01P209676', 'score': 550.77}, {'connected_gene': 'DIEXF', 'score': 14.81}, {'connected_gene': 'LOC101930114', 'score': 6.32}, {'connected_gene': 'LAMB3', 'score': 0.34}]
chr1 GH01I209629 209629505 209631716 0.31 [{'connected_gene': 'G0S2', 'score': 11.43}, {'connected_gene': 'LOC101930114', 'score': 11.29}, {'connected_gene': 'HSD11B1', 'score': 11.29}, {'connected_gene': 'ENSG00000224260', 'score': 11.22}, {'connected_gene': 'LAMB3', 'score': 5.27}, {'connected_gene': 'MIR4260', 'score': 0.44}]
chr1 GH01I209382 209382401 209391220 1.09 [{'connected_gene': 'LAMB3', 'score': 16.62}, {'connected_gene': 'MIR205HG', 'score': 11.69}, {'connected_gene': 'MIR205', 'score': 11.67}, {'connected_gene': 'IRF6', 'score': 8.95}, {'connected_gene': 'TFDP1P', 'score': 6.26}, {'connected_gene': 'LINC01698', 'score': 0.37}]
chr1 GH01I209633 209633399 209633612 0.79 [{'connected_gene': 'LAMB3', 'score': 19.88}, {'connected_gene': 'G0S2', 'score': 19.21}, {'connected_gene': 'CAMK1G', 'score': 11.25}, {'connected_gene': 'HSD11B1', 'score': 11.01}, {'connected_gene': 'ENSG00000224260', 'score': 10.86}, {'connected_gene': 'LOC101930114', 'score': 10.77}, {'connected_gene': 'MIR4260', 'score': 0.44}]
chr1 GH01I209644 209644708 209661280 2.3 [{'connected_gene': 'LAMB3', 'score': 590.96}, {'connected_gene': 'G0S2', 'score': 52.04}, {'connected_gene': 'HSD11B1', 'score': 12.49}, {'connected_gene': 'LOC101930114', 'score': 11.08}, {'connected_gene': 'CAMK1G', 'score': 10.62}, {'connected_gene': 'ENSG00000224260', 'score': 10.48}, {'connected_gene': 'MIR205HG', 'score': 9.28}, {'connected_gene': 'MIR205', 'score': 9.28}, {'connected_gene': 'IRF6', 'score': 6.36}, {'connected_gene': 'TRAF3IP3', 'score': 3.57}, {'connected_gene': 'C1orf74', 'score': 1.27}]
chr1 GH01I209362 209362729 209365947 0.68 [{'connected_gene': 'LAMB3', 'score': 13.19}, {'connected_gene': 'IRF6', 'score': 11.15}, {'connected_gene': 'MIR205HG', 'score': 11.14}, {'connected_gene': 'MIR205', 'score': 11.13}, {'connected_gene': 'ENSG00000224260', 'score': 9.38}, {'connected_gene': 'LINC01698', 'score': 0.77}, {'connected_gene': 'LINC01696', 'score': 0.28}]
chr1 GH01I209409 209409142 209418287 1.4 [{'connected_gene': 'LAMB3', 'score': 12.5}, {'connected_gene': 'ENSG00000224260', 'score': 9.71}, {'connected_gene': 'IRF6', 'score': 8.12}, {'connected_gene': 'TFDP1P', 'score': 4.97}, {'connected_gene': 'HSD11B1', 'score': 2.23}, {'connected_gene': 'MIR205HG', 'score': 0.37}, {'connected_gene': 'LINC01698', 'score': 0.25}]
chr1 GH01I209736 209736498 209736964 0.54 [{'connected_gene': 'LAMB3', 'score': 12.96}, {'connected_gene': 'HSD11B1', 'score': 10.89}, {'connected_gene': 'G0S2', 'score': 8.69}, {'connected_gene': 'ADORA2BP1', 'score': 0.44}, {'connected_gene': 'LOC101930114', 'score': 0.34}]
chr1 GH01I209800 209800845 209810995 2.63 [{'connected_gene': 'IRF6', 'score': 578.59}, {'connected_gene': 'TRAF3IP3', 'score': 14.53}, {'connected_gene': 'DIEXF', 'score': 10.67}, {'connected_gene': 'SYT14', 'score': 7.44}, {'connected_gene': 'LAMB3', 'score': 1.81}, {'connected_gene': 'C1orf74', 'score': 0.34}]
chr1 GH01I209814 209814153 209818041 1.48 [{'connected_gene': 'IRF6', 'score': 17.61}, {'connected_gene': 'C1orf74', 'score': 11.48}, {'connected_gene': 'LOC101930114', 'score': 10.41}, {'connected_gene': 'SYT14', 'score': 7.54}, {'connected_gene': 'LAMB3', 'score': 2.92}, {'connected_gene': 'DIEXF', 'score': 0.39}]
chr1 GH01I209616 209616353 209616465 0.4 [{'connected_gene': 'HSD11B1', 'score': 10.34}, {'connected_gene': 'MIR4260', 'score': 0.44}, {'connected_gene': 'CAMK1G', 'score': 0.29}, {'connected_gene': 'LAMB3', 'score': 0.28}]
chr1 GH01I209619 209617336 209617485 0.4 [{'connected_gene': 'HSD11B1', 'score': 10.34}, {'connected_gene': 'MIR4260', 'score': 0.44}, {'connected_gene': 'CAMK1G', 'score': 0.29}, {'connected_gene': 'LAMB3', 'score': 0.28}]
chr1 GH01I209622 209616676 209616825 0.51 [{'connected_gene': 'HSD11B1', 'score': 10.34}, {'connected_gene': 'MIR4260', 'score': 0.44}, {'connected_gene': 'CAMK1G', 'score': 0.29}, {'connected_gene': 'LAMB3', 'score': 0.28}]
chr1 GH01I209617 209616876 209617025 0.51 [{'connected_gene': 'HSD11B1', 'score': 10.34}, {'connected_gene': 'MIR4260', 'score': 0.44}, {'connected_gene': 'CAMK1G', 'score': 0.29}, {'connected_gene': 'LAMB3', 'score': 0.28}]
chr1 GH01I209882 209882085 209886500 1.66 [{'connected_gene': 'SYT14', 'score': 34.45}, {'connected_gene': 'DIEXF', 'score': 12.26}, {'connected_gene': 'IRF6', 'score': 6.69}, {'connected_gene': 'TRAF3IP3', 'score': 4.47}, {'connected_gene': 'LAMB3', 'score': 2.3}, {'connected_gene': 'GC01M209934', 'score': 0.23}]
chr1 GH01I209761 209761118 209761228 0.57 [{'connected_gene': 'C1orf74', 'score': 12.11}, {'connected_gene': 'LAMB3', 'score': 1.95}, {'connected_gene': 'G0S2', 'score': 1.73}, {'connected_gene': 'LOC101930114', 'score': 0.77}, {'connected_gene': 'TRAF3IP3', 'score': 0.44}]
chr1 GH01I209366 209366485 209371604 1.15 [{'connected_gene': 'LINC01698', 'score': 555.01}, {'connected_gene': 'LAMB3', 'score': 12.4}, {'connected_gene': 'MIR205HG', 'score': 11.15}, {'connected_gene': 'MIR205', 'score': 11.14}, {'connected_gene': 'ENSG00000224260', 'score': 9.38}, {'connected_gene': 'IRF6', 'score': 5.66}, {'connected_gene': 'HSD11B1', 'score': 1.38}]
chr1 GH01I209625 209625008 209626800 0.71 [{'connected_gene': 'ENSG00000224260', 'score': 11.23}, {'connected_gene': 'G0S2', 'score': 11.14}, {'connected_gene': 'LOC101930114', 'score': 11.01}, {'connected_gene': 'HSD11B1', 'score': 10.97}, {'connected_gene': 'LAMB3', 'score': 5.65}, {'connected_gene': 'MIR4260', 'score': 0.77}]
chr1 GH01I209627 209627150 209628291 1.2 [{'connected_gene': 'ENSG00000224260', 'score': 11.22}, {'connected_gene': 'G0S2', 'score': 11.14}, {'connected_gene': 'LOC101930114', 'score': 11.02}, {'connected_gene': 'HSD11B1', 'score': 10.98}, {'connected_gene': 'LAMB3', 'score': 7.54}, {'connected_gene': 'MIR4260', 'score': 0.77}]
chr1 GH01I209620 209620260 209622653 0.9 [{'connected_gene': 'ENSG00000224260', 'score': 10.49}, {'connected_gene': 'LAMB3', 'score': 4.79}, {'connected_gene': 'MIR4260', 'score': 0.77}, {'connected_gene': 'CAMK1G', 'score': 0.28}]
chr1 GH01I209621 209617896 209618045 0.63 [{'connected_gene': 'ENSG00000224260', 'score': 11.11}, {'connected_gene': 'HSD11B1', 'score': 10.65}, {'connected_gene': 'MIR4260', 'score': 0.44}, {'connected_gene': 'CAMK1G', 'score': 0.29}, {'connected_gene': 'LAMB3', 'score': 0.29}]
chr1 GH01I209618 209618297 209619537 0.51 [{'connected_gene': 'ENSG00000224260', 'score': 11.11}, {'connected_gene': 'HSD11B1', 'score': 10.65}, {'connected_gene': 'MIR4260', 'score': 0.77}, {'connected_gene': 'LAMB3', 'score': 0.29}, {'connected_gene': 'CAMK1G', 'score': 0.28}]

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