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
ENST00000469458 [[52485802, 52486077], [52486597, 52486684], [52489162, 52489246]] None
ENST00000371626 [[52485802, 52486684], [52489162, 52489246], [52490181, 52490251], [52492946, 52493020], [52494249, 52494302], [52507208, 52507269], [52520671, 52521843]] [[52486604, 52486684], [52489162, 52489246], [52490181, 52490251], [52492946, 52493020], [52494249, 52494302], [52507208, 52507269], [52520671, 52520768]]
ENST00000472624 [[52486585, 52486684], [52489162, 52489246], [52490181, 52490251], [52492946, 52493020], [52494249, 52494302], [52496038, 52496220], [52507208, 52507269], [52520671, 52520848]] [[52496207, 52496220], [52507208, 52507269], [52520671, 52520768]]
ENST00000471493 [[52488740, 52489246], [52490181, 52490328]] None
ENST00000610127 [[52499170, 52499723], [52507208, 52507269], [52520671, 52520863]] [[52499713, 52499723], [52507208, 52507269], [52520671, 52520768]]
NM_015913 [[52485802, 52486684], [52489162, 52489246], [52490181, 52490251], [52492946, 52493020], [52494249, 52494302], [52507208, 52507269], [52520671, 52521843]] [[52486604, 52486684], [52489162, 52489246], [52490181, 52490251], [52492946, 52493020], [52494249, 52494302], [52507208, 52507269], [52520671, 52520768]]
NR_046405 [[52497768, 52499723], [52507208, 52507269], [52520671, 52521843]] None
NR_046406 [[52497768, 52499600], [52507208, 52507269], [52520671, 52521843]] None
Promoter
Chrom Start End Description
chr1 52520828 52520888 CAGE_peak_1_at_TXNDC12_5end
chr1 52521091 52521102 CAGE_peak_16_at_TXNDC12_5end
chr1 52521359 52521378 CAGE_peak_4_at_TXNDC12_5end
chr1 52521381 52521400 CAGE_peak_2_at_TXNDC12_5end
chr1 52521417 52521448 CAGE_peak_5_at_TXNDC12_5end
chr1 52521768 52521784 CAGE_peak_7_at_TXNDC12_5end
chr1 52521787 52521800 CAGE_peak_6_at_TXNDC12_5end
chr1 52521831 52521860 CAGE_peak_3_at_TXNDC12_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I052138 52138808 52143600 2.24 [{'connected_gene': 'ZFYVE9', 'score': 550.77}, {'connected_gene': 'PRPF38A', 'score': 23.99}, {'connected_gene': 'ZCCHC11', 'score': 16.13}, {'connected_gene': 'RPS13P2', 'score': 12.14}, {'connected_gene': 'ENSG00000230953', 'score': 11.32}, {'connected_gene': 'ENSG00000266993', 'score': 10.64}, {'connected_gene': 'PODN', 'score': 10.4}, {'connected_gene': 'CC2D1B', 'score': 9.26}, {'connected_gene': 'LOC100190934', 'score': 8.97}, {'connected_gene': 'GPX7', 'score': 8.73}, {'connected_gene': 'TXNDC12', 'score': 5.71}, {'connected_gene': 'PIR34571', 'score': 0.23}]
chr1 GH01I052402 52402662 52405901 2.28 [{'connected_gene': 'PRPF38A', 'score': 561.31}, {'connected_gene': 'ORC1', 'score': 550.77}, {'connected_gene': 'MAGOH', 'score': 24.31}, {'connected_gene': 'KTI12', 'score': 17.91}, {'connected_gene': 'ENSG00000266993', 'score': 15.12}, {'connected_gene': 'TXNDC12', 'score': 11.2}, {'connected_gene': 'PLA2G12AP1', 'score': 0.28}]
chr1 GH01I052053 52053640 52058017 2.11 [{'connected_gene': 'TXNDC12', 'score': 560.22}, {'connected_gene': 'PIR60864', 'score': 550.77}, {'connected_gene': 'GC01M052055', 'score': 550.77}, {'connected_gene': 'BTF3L4', 'score': 550.77}, {'connected_gene': 'LOC100190934', 'score': 18.42}, {'connected_gene': 'ENSG00000230953', 'score': 12.85}, {'connected_gene': 'ZCCHC11', 'score': 12.33}, {'connected_gene': 'ENSG00000223390', 'score': 12.03}, {'connected_gene': 'KTI12', 'score': 12.03}, {'connected_gene': 'ZFYVE9', 'score': 11.56}, {'connected_gene': 'TTC39A', 'score': 5.59}, {'connected_gene': 'TXNDC12-AS1', 'score': 0.77}]
chr1 GH01I051874 51874801 51880132 2.56 [{'connected_gene': 'NRDC', 'score': 561.05}, {'connected_gene': 'ENSG00000266993', 'score': 63.03}, {'connected_gene': 'ZCCHC11', 'score': 52.1}, {'connected_gene': 'PRPF38A', 'score': 23.07}, {'connected_gene': 'CC2D1B', 'score': 14.37}, {'connected_gene': 'ZFYVE9', 'score': 13.19}, {'connected_gene': 'LINC01562', 'score': 12.69}, {'connected_gene': 'TXNDC12', 'score': 11.24}, {'connected_gene': 'RPS13P2', 'score': 10.09}, {'connected_gene': 'KTI12', 'score': 9.84}, {'connected_gene': 'GPX7', 'score': 9.83}, {'connected_gene': 'OSBPL9', 'score': 1.69}, {'connected_gene': 'GC01P051865', 'score': 0.39}]
chr1 GH01I051666 51666001 51667264 0.93 [{'connected_gene': 'NRDC', 'score': 9.73}, {'connected_gene': 'OSBPL9', 'score': 5.35}, {'connected_gene': 'EPS15', 'score': 1.6}, {'connected_gene': 'TXNDC12', 'score': 1.38}, {'connected_gene': 'GAPDHP51', 'score': 0.26}, {'connected_gene': 'LOC105378719', 'score': 0.26}]
chr1 GH01I052330 52330427 52330557 0.92 [{'connected_gene': 'MAGOH', 'score': 13.96}, {'connected_gene': 'PLA2G12AP1', 'score': 11.51}, {'connected_gene': 'CC2D1B', 'score': 11.51}, {'connected_gene': 'TXNDC12', 'score': 11.21}, {'connected_gene': 'TXNDC12-AS1', 'score': 10.86}, {'connected_gene': 'KTI12', 'score': 9.8}, {'connected_gene': 'GC01M052353', 'score': 0.34}, {'connected_gene': 'GC01M052352', 'score': 0.34}, {'connected_gene': 'GC01P052280', 'score': 0.25}, {'connected_gene': 'ZFYVE9', 'score': 0.09}]
chr1 GH01I052037 52037346 52038676 0.91 [{'connected_gene': 'CC2D1B', 'score': 19.91}, {'connected_gene': 'ENSG00000223390', 'score': 0.77}, {'connected_gene': 'KTI12', 'score': 0.77}, {'connected_gene': 'TXNDC12-AS1', 'score': 0.39}, {'connected_gene': 'TXNDC12', 'score': 0.37}]
chr1 GH01I051728 51728221 51731591 2.07 [{'connected_gene': 'OSBPL9', 'score': 554.01}, {'connected_gene': 'GC01P051732', 'score': 550.77}, {'connected_gene': 'GC01P051733', 'score': 550.77}, {'connected_gene': 'ENSG00000266993', 'score': 16.21}, {'connected_gene': 'PRPF38A', 'score': 11.77}, {'connected_gene': 'TXNDC12', 'score': 11.2}, {'connected_gene': 'ZCCHC11', 'score': 11.17}, {'connected_gene': 'NRDC', 'score': 10.39}, {'connected_gene': 'GPX7', 'score': 9.83}, {'connected_gene': 'KTI12', 'score': 9.79}, {'connected_gene': 'RNU6-877P', 'score': 9.15}, {'connected_gene': 'ENSG00000212624', 'score': 0.44}]
chr1 GH01I052032 52032214 52034577 2.04 [{'connected_gene': 'KTI12', 'score': 564.63}, {'connected_gene': 'ENSG00000223390', 'score': 550.77}, {'connected_gene': 'ZCCHC11', 'score': 25.72}, {'connected_gene': 'ENSG00000266993', 'score': 22.36}, {'connected_gene': 'CC2D1B', 'score': 18.8}, {'connected_gene': 'TXNDC12', 'score': 11.94}, {'connected_gene': 'BTF3L4', 'score': 11.94}, {'connected_gene': 'ORC1', 'score': 10.82}, {'connected_gene': 'LOC100190934', 'score': 8.61}]
chr1 GH01I052027 52027917 52029103 0.56 [{'connected_gene': 'LOC100190934', 'score': 7.61}, {'connected_gene': 'CC2D1B', 'score': 4.55}, {'connected_gene': 'ENSG00000223390', 'score': 0.77}, {'connected_gene': 'TXNDC12', 'score': 0.31}, {'connected_gene': 'GC01M051997', 'score': 0.29}, {'connected_gene': 'GC01M051996', 'score': 0.29}]
chr1 GH01I052033 52032000 52032201 0.68 [{'connected_gene': 'ENSG00000223390', 'score': 550.77}, {'connected_gene': 'KTI12', 'score': 550.77}, {'connected_gene': 'TXNDC12', 'score': 0.34}, {'connected_gene': 'GC01M051997', 'score': 0.29}, {'connected_gene': 'GC01M051996', 'score': 0.29}]
chr1 GH01I052042 52042279 52042482 0.24 [{'connected_gene': 'ENSG00000223390', 'score': 0.44}, {'connected_gene': 'KTI12', 'score': 0.44}, {'connected_gene': 'TXNDC12-AS1', 'score': 0.44}, {'connected_gene': 'TXNDC12', 'score': 0.39}]