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
ENST00000367478 [[186280783, 186283158], [186283760, 186283856], [186286613, 186286732], [186287578, 186287735], [186287864, 186287960], [186289443, 186289550], [186291449, 186291544], [186291649, 186291718], [186292817, 186293002], [186294895, 186294986], [186295235, 186295367], [186296591, 186296792], [186300629, 186300713], [186301326, 186301475], [186302253, 186302526], [186303456, 186303665], [186304199, 186304261], [186304469, 186304675], [186305627, 186305826], [186306144, 186306288], [186307164, 186307375], [186308773, 186308904], [186310159, 186310291], [186310383, 186310521], [186312457, 186312605], [186313037, 186313222], [186313506, 186313710], [186314711, 186314828], [186315266, 186315419], [186316423, 186316590], [186319354, 186319520], [186320461, 186320602], [186321107, 186321242], [186322819, 186322982], [186324541, 186324690], [186324766, 186324900], [186325417, 186325581], [186326528, 186326755], [186327674, 186327782], [186328930, 186329128], [186329404, 186329496], [186329896, 186330037], [186330753, 186330841], [186330920, 186331001], [186331419, 186331512], [186331968, 186332133], [186332473, 186332577], [186337017, 186337114], [186340101, 186340175], [186342490, 186342595], [186344009, 186344457]] [[186283102, 186283158], [186283760, 186283856], [186286613, 186286732], [186287578, 186287735], [186287864, 186287960], [186289443, 186289550], [186291449, 186291544], [186291649, 186291718], [186292817, 186293002], [186294895, 186294986], [186295235, 186295367], [186296591, 186296792], [186300629, 186300713], [186301326, 186301475], [186302253, 186302526], [186303456, 186303665], [186304199, 186304261], [186304469, 186304675], [186305627, 186305826], [186306144, 186306288], [186307164, 186307375], [186308773, 186308904], [186310159, 186310291], [186310383, 186310521], [186312457, 186312605], [186313037, 186313222], [186313506, 186313710], [186314711, 186314828], [186315266, 186315419], [186316423, 186316590], [186319354, 186319520], [186320461, 186320602], [186321107, 186321242], [186322819, 186322982], [186324541, 186324690], [186324766, 186324900], [186325417, 186325581], [186326528, 186326755], [186327674, 186327782], [186328930, 186329128], [186329404, 186329496], [186329896, 186330037], [186330753, 186330841], [186330920, 186331001], [186331419, 186331512], [186331968, 186332133], [186332473, 186332577], [186337017, 186337114], [186340101, 186340175], [186342490, 186342595], [186344009, 186344160]]
ENST00000467810 [[186287636, 186287735], [186287864, 186287960], [186289443, 186289550], [186291449, 186291544], [186291649, 186291833]] None
ENST00000492973 [[186294650, 186294986], [186295235, 186295352]] None
ENST00000481347 [[186307318, 186307375], [186308773, 186308904], [186310159, 186310291], [186310383, 186312605], [186313037, 186313222]] None
ENST00000491783 [[186320554, 186320602], [186321107, 186321242], [186322819, 186322982], [186324541, 186324690], [186324766, 186324900], [186325417, 186325670]] None
ENST00000469463 [[186321083, 186321242], [186322819, 186323080]] None
ENST00000474852 [[186321146, 186321242], [186322819, 186323012], [186324541, 186324690], [186324766, 186324900], [186325417, 186325581], [186326528, 186326755], [186327674, 186327782], [186328930, 186329128], [186329404, 186329496], [186329896, 186330037], [186330753, 186330841], [186330920, 186331001], [186331419, 186331512], [186331968, 186332133], [186332473, 186332577], [186337017, 186337114], [186340101, 186340175], [186342490, 186342595], [186344009, 186344457]] None
ENST00000451586 [[186342524, 186342595], [186344009, 186344318], [186344690, 186344825]] [[186342524, 186342595], [186344009, 186344318], [186344690, 186344760]]
NM_003292 [[186280783, 186283158], [186283760, 186283856], [186286613, 186286732], [186287578, 186287735], [186287864, 186287960], [186289443, 186289550], [186291449, 186291544], [186291649, 186291718], [186292817, 186293002], [186294895, 186294986], [186295235, 186295367], [186296591, 186296792], [186300629, 186300713], [186301326, 186301475], [186302253, 186302526], [186303456, 186303665], [186304199, 186304261], [186304469, 186304675], [186305627, 186305826], [186306144, 186306288], [186307164, 186307375], [186308773, 186308904], [186310159, 186310291], [186310383, 186310521], [186312457, 186312605], [186313037, 186313222], [186313506, 186313710], [186314711, 186314828], [186315266, 186315419], [186316423, 186316590], [186319354, 186319520], [186320461, 186320602], [186321107, 186321242], [186322819, 186322982], [186324541, 186324690], [186324766, 186324900], [186325417, 186325581], [186326528, 186326755], [186327674, 186327782], [186328930, 186329128], [186329404, 186329496], [186329896, 186330037], [186330753, 186330841], [186330920, 186331001], [186331419, 186331512], [186331968, 186332133], [186332473, 186332577], [186337017, 186337114], [186340101, 186340175], [186342490, 186342595], [186344009, 186344457]] [[186283102, 186283158], [186283760, 186283856], [186286613, 186286732], [186287578, 186287735], [186287864, 186287960], [186289443, 186289550], [186291449, 186291544], [186291649, 186291718], [186292817, 186293002], [186294895, 186294986], [186295235, 186295367], [186296591, 186296792], [186300629, 186300713], [186301326, 186301475], [186302253, 186302526], [186303456, 186303665], [186304199, 186304261], [186304469, 186304675], [186305627, 186305826], [186306144, 186306288], [186307164, 186307375], [186308773, 186308904], [186310159, 186310291], [186310383, 186310521], [186312457, 186312605], [186313037, 186313222], [186313506, 186313710], [186314711, 186314828], [186315266, 186315419], [186316423, 186316590], [186319354, 186319520], [186320461, 186320602], [186321107, 186321242], [186322819, 186322982], [186324541, 186324690], [186324766, 186324900], [186325417, 186325581], [186326528, 186326755], [186327674, 186327782], [186328930, 186329128], [186329404, 186329496], [186329896, 186330037], [186330753, 186330841], [186330920, 186331001], [186331419, 186331512], [186331968, 186332133], [186332473, 186332577], [186337017, 186337114], [186340101, 186340175], [186342490, 186342595], [186344009, 186344160]]
Promoter
Chrom Start End Description
chr1 186344262 186344277 CAGE_peak_4_at_TPR_5end
chr1 186344351 186344370 CAGE_peak_2_at_TPR_5end
chr1 186344371 186344415 CAGE_peak_1_at_TPR_5end
chr1 186344456 186344465 CAGE_peak_5_at_TPR_5end
chr1 186344802 186344895 CAGE_peak_3_at_TPR_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I186654 186654697 186655098 0.41 [{'connected_gene': 'TPR', 'score': 14.74}, {'connected_gene': 'PTGS2', 'score': 12.56}, {'connected_gene': 'ENSG00000273198', 'score': 7.12}, {'connected_gene': 'PLA2G4A', 'score': 3.8}, {'connected_gene': 'ODR4', 'score': 1.63}, {'connected_gene': 'GC01P186644', 'score': 0.39}, {'connected_gene': 'GC01P186643', 'score': 0.39}]
chr1 GH01I186615 186615448 186615579 0.24 [{'connected_gene': 'TPR', 'score': 2.92}, {'connected_gene': 'PTGS2', 'score': 1.85}, {'connected_gene': 'PLA2G4A', 'score': 1.72}, {'connected_gene': 'GC01P186627', 'score': 0.39}, {'connected_gene': 'GC01P186626', 'score': 0.39}, {'connected_gene': 'LOC100131939', 'score': 0.29}]
chr1 GH01I186373 186373510 186377187 2.13 [{'connected_gene': 'TPR', 'score': 625.41}, {'connected_gene': 'ODR4', 'score': 558.18}, {'connected_gene': 'OCLM', 'score': 48.51}, {'connected_gene': 'ENSG00000228238', 'score': 5.29}, {'connected_gene': 'GC01P186372', 'score': 0.77}, {'connected_gene': 'GC01M186369', 'score': 0.18}]
chr1 GH01I187041 187041030 187044493 0.6 [{'connected_gene': 'TPR', 'score': 29.71}, {'connected_gene': 'OCLM', 'score': 25.02}, {'connected_gene': 'GC01P187071', 'score': 0.31}, {'connected_gene': 'PLA2G4A', 'score': 0.08}]
chr1 GH01I186212 186212600 186212878 1.07 [{'connected_gene': 'TPR', 'score': 19.78}, {'connected_gene': 'OCLM', 'score': 11.85}, {'connected_gene': 'PACERR', 'score': 4.38}, {'connected_gene': 'LOC105371654', 'score': 0.44}, {'connected_gene': 'ENSG00000224691', 'score': 0.28}]
chr1 GH01I185404 185403001 185403200 0.38 [{'connected_gene': 'TPR', 'score': 19.71}, {'connected_gene': 'OCLM', 'score': 11.79}, {'connected_gene': 'LOC100422414', 'score': 5.34}, {'connected_gene': 'LOC102724897', 'score': 0.29}, {'connected_gene': 'RNU7-183P', 'score': 0.29}]
chr1 GH01I185398 185398803 185401758 0.91 [{'connected_gene': 'TPR', 'score': 23.22}, {'connected_gene': 'LOC100422414', 'score': 5.42}, {'connected_gene': 'EDEM3', 'score': 5.26}, {'connected_gene': 'LOC102724897', 'score': 0.31}, {'connected_gene': 'RNU7-183P', 'score': 0.29}]
chr1 GH01I186828 186828329 186830899 2.06 [{'connected_gene': 'PLA2G4A', 'score': 554.93}, {'connected_gene': 'TPR', 'score': 19.97}, {'connected_gene': 'OCLM', 'score': 13.15}, {'connected_gene': 'PTGS2', 'score': 4.1}, {'connected_gene': 'GC01P187071', 'score': 0.07}]
chr1 GH01I186081 186081789 186083745 1.44 [{'connected_gene': 'OCLM', 'score': 14.07}, {'connected_gene': 'TPR', 'score': 12.65}, {'connected_gene': 'ODR4', 'score': 11.33}, {'connected_gene': 'HMCN1', 'score': 9.22}, {'connected_gene': 'PDC', 'score': 1.32}, {'connected_gene': 'ENSG00000224691', 'score': 0.16}, {'connected_gene': 'GC01M185927', 'score': 0.1}]
chr1 GH01I185374 185374659 185377759 1.19 [{'connected_gene': 'IVNS1ABP', 'score': 35.59}, {'connected_gene': 'EDEM3', 'score': 12.85}, {'connected_gene': 'TPR', 'score': 12.62}, {'connected_gene': 'RNU7-183P', 'score': 11.36}, {'connected_gene': 'ODR4', 'score': 11.3}, {'connected_gene': 'FAM129A', 'score': 11.28}, {'connected_gene': 'SWT1', 'score': 8.84}, {'connected_gene': 'LOC100422414', 'score': 5.45}, {'connected_gene': 'RNF2', 'score': 5.12}, {'connected_gene': 'TRMT1L', 'score': 1.21}, {'connected_gene': 'LOC102724897', 'score': 0.44}]
chr1 GH01I186678 186678875 186682952 2.1 [{'connected_gene': 'PACERR', 'score': 558.21}, {'connected_gene': 'PTGS2', 'score': 550.77}, {'connected_gene': 'TPR', 'score': 18.13}, {'connected_gene': 'LOC102724919', 'score': 6.66}, {'connected_gene': 'ENSG00000228238', 'score': 4.57}, {'connected_gene': 'PLA2G4A', 'score': 0.11}]
chr1 GH01I186348 186348469 186348578 0.52 [{'connected_gene': 'GC01P186372', 'score': 0.34}, {'connected_gene': 'TPR', 'score': 0.31}, {'connected_gene': 'GC01M186320', 'score': 0.28}, {'connected_gene': 'RNU6-1240P', 'score': 0.28}]