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
ENST00000375147 [[100395907, 100396197], [100403075, 100403164], [100403843, 100403944], [100405485, 100405642], [100407398, 100407506], [100407892, 100408014], [100409773, 100409843], [100410289, 100410505], [100412784, 100412882], [100413591, 100413655], [100416079, 100416190], [100417161, 100417226], [100417983, 100418046], [100418292, 100418367], [100420921, 100421025], [100423227, 100423350], [100424323, 100424426], [100425235, 100425329], [100426621, 100426725], [100429044, 100429159], [100431127, 100431256], [100431874, 100431988], [100433367, 100436030]] [[100396163, 100396197], [100403075, 100403164], [100403843, 100403944], [100405485, 100405642], [100407398, 100407506], [100407892, 100408014], [100409773, 100409843], [100410289, 100410505], [100412784, 100412882], [100413591, 100413655], [100416079, 100416190], [100417161, 100417226], [100417983, 100418046], [100418292, 100418367], [100420921, 100421025], [100423227, 100423350], [100424323, 100424426], [100425235, 100425329], [100426621, 100426725], [100429044, 100429159], [100431127, 100431256], [100431874, 100431988], [100433367, 100433481]]
ENST00000478100 [[100395949, 100396197], [100403075, 100403164], [100403843, 100403944], [100407398, 100407506], [100409773, 100409843], [100410289, 100410505], [100412784, 100412844]] [[100396163, 100396197], [100403075, 100403164], [100403843, 100403944], [100407398, 100407423]]
ENST00000375130 [[100429044, 100429159], [100431127, 100431256], [100431874, 100432358]] [[100429044, 100429159], [100431127, 100431256], [100431874, 100432096]]
ENST00000491445 [[100434992, 100435063], [100435793, 100436022]] None
NM_002486 [[100395704, 100396197], [100403075, 100403164], [100403843, 100403944], [100405485, 100405642], [100407398, 100407506], [100407892, 100408014], [100409773, 100409843], [100410289, 100410505], [100412784, 100412882], [100413591, 100413655], [100416079, 100416190], [100417161, 100417226], [100417983, 100418046], [100418292, 100418367], [100420921, 100421025], [100423227, 100423350], [100424323, 100424426], [100425235, 100425329], [100426621, 100426725], [100429044, 100429159], [100431127, 100431256], [100431874, 100431988], [100433367, 100436030]] [[100396163, 100396197], [100403075, 100403164], [100403843, 100403944], [100405485, 100405642], [100407398, 100407506], [100407892, 100408014], [100409773, 100409843], [100410289, 100410505], [100412784, 100412882], [100413591, 100413655], [100416079, 100416190], [100417161, 100417226], [100417983, 100418046], [100418292, 100418367], [100420921, 100421025], [100423227, 100423350], [100424323, 100424426], [100425235, 100425329], [100426621, 100426725], [100429044, 100429159], [100431127, 100431256], [100431874, 100431988], [100433367, 100433481]]
Promoter
Chrom Start End Description
chr9 100395699 100395710 CAGE_peak_8_at_NCBP1_5end
chr9 100395724 100395735 CAGE_peak_6_at_NCBP1_5end
chr9 100395891 100395922 CAGE_peak_4_at_NCBP1_5end
chr9 100396013 100396024 CAGE_peak_7_at_NCBP1_5end
chr9 100396030 100396055 CAGE_peak_3_at_NCBP1_5end
chr9 100396056 100396086 CAGE_peak_2_at_NCBP1_5end
chr9 100396093 100396112 CAGE_peak_1_at_NCBP1_5end
chr9 100396127 100396138 CAGE_peak_5_at_NCBP1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I098117 98117444 98123006 2.54 [{'connected_gene': 'TRIM14', 'score': 559.71}, {'connected_gene': 'NCBP1', 'score': 56.4}, {'connected_gene': 'ZNF322P1', 'score': 38.92}, {'connected_gene': 'TSTD2', 'score': 38.4}, {'connected_gene': 'ENSG00000254633', 'score': 26.39}, {'connected_gene': 'CORO2A', 'score': 22.74}, {'connected_gene': 'ANKS6', 'score': 21.53}, {'connected_gene': 'CCDC180', 'score': 18.62}, {'connected_gene': 'LOC105376171', 'score': 12.1}, {'connected_gene': 'XPA', 'score': 11.9}, {'connected_gene': 'TBC1D2', 'score': 10.26}, {'connected_gene': 'TRMO', 'score': 5.09}, {'connected_gene': 'FOXE1', 'score': 5.03}, {'connected_gene': 'HEMGN', 'score': 1.26}, {'connected_gene': 'PIR36587', 'score': 0.39}]
chr9 GH09I097695 97695783 97698568 2 [{'connected_gene': 'XPA', 'score': 561.88}, {'connected_gene': 'KRT18P13', 'score': 559.49}, {'connected_gene': 'ZNF322P1', 'score': 16.08}, {'connected_gene': 'ZNF510', 'score': 14.66}, {'connected_gene': 'NCBP1', 'score': 11.36}, {'connected_gene': 'CCDC180', 'score': 11.04}, {'connected_gene': 'ZNF782', 'score': 9.67}, {'connected_gene': 'TSTD2', 'score': 8.34}, {'connected_gene': 'GC09M097677', 'score': 0.37}]
chr9 GH09I098055 98055850 98058322 2.22 [{'connected_gene': 'NANS', 'score': 559.6}, {'connected_gene': 'NCBP1', 'score': 14.35}, {'connected_gene': 'TSTD2', 'score': 12.89}, {'connected_gene': 'TRIM14', 'score': 7.01}, {'connected_gene': 'GC09M098254', 'score': 0.31}, {'connected_gene': 'GC09M098251', 'score': 0.31}, {'connected_gene': 'PIR35853', 'score': 0.31}]
chr9 GH09I097918 97918311 97924164 2.6 [{'connected_gene': 'TRMO', 'score': 591.45}, {'connected_gene': 'NCBP1', 'score': 52.35}, {'connected_gene': 'TSTD2', 'score': 39.53}, {'connected_gene': 'ZNF322P1', 'score': 24.45}, {'connected_gene': 'NUTM2G', 'score': 23.16}, {'connected_gene': 'MFSD14C', 'score': 22.18}, {'connected_gene': 'ZNF782', 'score': 21.82}, {'connected_gene': 'ANP32B', 'score': 12.67}, {'connected_gene': 'ENSG00000236896', 'score': 12.67}, {'connected_gene': 'HEMGN', 'score': 12.64}, {'connected_gene': 'RNU6-918P', 'score': 12.0}, {'connected_gene': 'ENSG00000254633', 'score': 12.0}, {'connected_gene': 'XPA', 'score': 11.72}, {'connected_gene': 'TRIM14', 'score': 1.76}, {'connected_gene': 'ENSG00000201830', 'score': 0.44}]
chr9 GH09I097631 97631431 97635396 2.29 [{'connected_gene': 'NCBP1', 'score': 582.53}, {'connected_gene': 'TSTD2', 'score': 567.37}, {'connected_gene': 'MFSD14C', 'score': 22.19}, {'connected_gene': 'ZNF782', 'score': 21.82}, {'connected_gene': 'NUTM2G', 'score': 20.22}, {'connected_gene': 'ZNF322P1', 'score': 13.57}, {'connected_gene': 'ENSG00000224848', 'score': 12.63}, {'connected_gene': 'ZNF510', 'score': 12.18}, {'connected_gene': 'ENSG00000254633', 'score': 12.02}, {'connected_gene': 'XPA', 'score': 10.96}, {'connected_gene': 'LOC105376171', 'score': 10.79}, {'connected_gene': 'TDRD7', 'score': 10.74}, {'connected_gene': 'LOC441454', 'score': 10.57}, {'connected_gene': 'TMOD1', 'score': 9.21}, {'connected_gene': 'PIR37261', 'score': 0.31}, {'connected_gene': 'GC09P097607', 'score': 0.31}]
chr9 GH09I097411 97411382 97413708 2.03 [{'connected_gene': 'TDRD7', 'score': 550.77}, {'connected_gene': 'NCBP1', 'score': 22.38}, {'connected_gene': 'ZNF782', 'score': 20.3}, {'connected_gene': 'MFSD14C', 'score': 13.07}, {'connected_gene': 'NUTM2G', 'score': 10.76}, {'connected_gene': 'ZNF322P1', 'score': 9.71}, {'connected_gene': 'FAM220CP', 'score': 4.65}, {'connected_gene': 'CCDC180', 'score': 4.27}, {'connected_gene': 'TMOD1', 'score': 0.17}]
chr9 GH09I097615 97615599 97615768 0.62 [{'connected_gene': 'TDRD7', 'score': 11.2}, {'connected_gene': 'LOC105376168', 'score': 10.95}, {'connected_gene': 'PIR37261', 'score': 0.44}, {'connected_gene': 'GC09P097607', 'score': 0.44}, {'connected_gene': 'TSTD2', 'score': 0.37}, {'connected_gene': 'NCBP1', 'score': 0.37}]
chr9 GH09I097510 97510253 97512303 1.34 [{'connected_gene': 'ZNF510', 'score': 39.12}, {'connected_gene': 'ENSG00000224848', 'score': 34.09}, {'connected_gene': 'ZNF322P1', 'score': 32.05}, {'connected_gene': 'NCBP1', 'score': 31.36}, {'connected_gene': 'XPA', 'score': 28.62}, {'connected_gene': 'TSTD2', 'score': 26.74}, {'connected_gene': 'LOC105376168', 'score': 23.41}, {'connected_gene': 'LOC105376171', 'score': 19.05}, {'connected_gene': 'ZNF782', 'score': 14.1}, {'connected_gene': 'LOC441455', 'score': 11.82}, {'connected_gene': 'CCDC180', 'score': 10.66}, {'connected_gene': 'LOC441454', 'score': 10.58}, {'connected_gene': 'TMOD1', 'score': 0.39}]
chr9 GH09I096653 96653191 96656193 1.97 [{'connected_gene': 'AAED1', 'score': 550.77}, {'connected_gene': 'ZNF322P1', 'score': 16.07}, {'connected_gene': 'ZNF510', 'score': 14.76}, {'connected_gene': 'CDC14B', 'score': 12.73}, {'connected_gene': 'LINC00476', 'score': 12.35}, {'connected_gene': 'NCBP1', 'score': 11.17}, {'connected_gene': 'CCDC180', 'score': 11.01}, {'connected_gene': 'ERCC6L2', 'score': 10.83}, {'connected_gene': 'ZNF782', 'score': 9.7}, {'connected_gene': 'CTSV', 'score': 4.06}]
chr9 GH09I097979 97979663 97987948 2.52 [{'connected_gene': 'ANP32B', 'score': 550.77}, {'connected_gene': 'NANS', 'score': 26.5}, {'connected_gene': 'NCBP1', 'score': 23.23}, {'connected_gene': 'MFSD14C', 'score': 22.18}, {'connected_gene': 'ZNF782', 'score': 21.82}, {'connected_gene': 'TSTD2', 'score': 16.66}, {'connected_gene': 'ZNF322P1', 'score': 13.55}, {'connected_gene': 'ENSG00000254633', 'score': 12.0}, {'connected_gene': 'XPA', 'score': 10.81}, {'connected_gene': 'TRMO', 'score': 6.22}, {'connected_gene': 'TRIM14', 'score': 4.69}, {'connected_gene': 'ENSG00000236896', 'score': 0.77}]
chr9 GH09I097636 97636801 97637200 0.43 [{'connected_gene': 'LOC105376171', 'score': 550.77}, {'connected_gene': 'TMOD1', 'score': 10.56}, {'connected_gene': 'NCBP1', 'score': 0.77}, {'connected_gene': 'PIR56620', 'score': 0.29}]
chr9 GH09I098221 98221005 98235773 1.72 [{'connected_gene': 'MIR6854', 'score': 550.77}, {'connected_gene': 'TBC1D2', 'score': 45.45}, {'connected_gene': 'CORO2A', 'score': 17.67}, {'connected_gene': 'NCBP1', 'score': 14.33}, {'connected_gene': 'TSTD2', 'score': 12.87}, {'connected_gene': 'TRIM14', 'score': 10.78}, {'connected_gene': 'ENSG00000236896', 'score': 10.71}, {'connected_gene': 'LOC100131625', 'score': 0.44}]
chr9 GH09I097856 97853515 97853574 0.82 [{'connected_gene': 'PTCSC2', 'score': 550.77}, {'connected_gene': 'FOXE1', 'score': 550.77}, {'connected_gene': 'ZNF782', 'score': 18.98}, {'connected_gene': 'NCBP1', 'score': 18.01}, {'connected_gene': 'LOC441454', 'score': 13.44}, {'connected_gene': 'TSTD2', 'score': 12.86}, {'connected_gene': 'MFSD14C', 'score': 12.05}, {'connected_gene': 'ZNF322P1', 'score': 10.46}, {'connected_gene': 'GC09P097870', 'score': 0.37}]
chr9 GH09I097220 97219739 97222771 1.48 [{'connected_gene': 'ANKRD18CP', 'score': 577.27}, {'connected_gene': 'GC09M097223', 'score': 550.77}, {'connected_gene': 'PIR49577', 'score': 550.77}, {'connected_gene': 'VN1R51P', 'score': 33.29}, {'connected_gene': 'CCDC180', 'score': 19.4}, {'connected_gene': 'MFSD14C', 'score': 13.1}, {'connected_gene': 'NCBP1', 'score': 12.36}, {'connected_gene': 'NUTM2G', 'score': 10.78}, {'connected_gene': 'ZNF782', 'score': 9.95}, {'connected_gene': 'ENSG00000203279', 'score': 0.37}]
chr9 GH09I097236 97236956 97239838 1.53 [{'connected_gene': 'LOC100499484', 'score': 550.77}, {'connected_gene': 'ENSG00000203279', 'score': 550.77}, {'connected_gene': 'ENSG00000254483', 'score': 550.77}, {'connected_gene': 'LOC100499484-C9ORF174', 'score': 550.77}, {'connected_gene': 'ANKRD18CP', 'score': 32.19}, {'connected_gene': 'CCDC180', 'score': 26.48}, {'connected_gene': 'MFSD14C', 'score': 13.1}, {'connected_gene': 'NCBP1', 'score': 12.36}, {'connected_gene': 'NUTM2G', 'score': 10.78}, {'connected_gene': 'ZNF782', 'score': 9.94}, {'connected_gene': 'ENSG00000235494', 'score': 8.18}, {'connected_gene': 'VN1R52P', 'score': 0.77}]
chr9 GH09I098087 98087118 98088119 1.16 [{'connected_gene': 'PIR34252', 'score': 550.77}, {'connected_gene': 'GC09M098242', 'score': 550.77}, {'connected_gene': 'PIR62444', 'score': 550.77}, {'connected_gene': 'PIR57415', 'score': 550.77}, {'connected_gene': 'GC09M098247', 'score': 550.77}, {'connected_gene': 'PIR58120', 'score': 550.77}, {'connected_gene': 'GC09M098248', 'score': 550.77}, {'connected_gene': 'PIR55282', 'score': 550.77}, {'connected_gene': 'PIR60387', 'score': 550.77}, {'connected_gene': 'GC09M098249', 'score': 550.77}, {'connected_gene': 'GC09M098241', 'score': 550.77}, {'connected_gene': 'GC09M098237', 'score': 550.77}, {'connected_gene': 'GC09M098238', 'score': 550.77}, {'connected_gene': 'PIR44339', 'score': 550.77}, {'connected_gene': 'GC09M098245', 'score': 550.77}, {'connected_gene': 'GC09M098243', 'score': 550.77}, {'connected_gene': 'GC09M098253', 'score': 550.77}, {'connected_gene': 'PIR53250', 'score': 550.77}, {'connected_gene': 'PIR35660', 'score': 550.77}, {'connected_gene': 'PIR62042', 'score': 550.77}, {'connected_gene': 'GC09M098250', 'score': 550.77}, {'connected_gene': 'GC09M098252', 'score': 550.77}, {'connected_gene': 'PIR55612', 'score': 550.77}, {'connected_gene': 'GC09M098223', 'score': 550.77}, {'connected_gene': 'GC09M098246', 'score': 550.77}, {'connected_gene': 'PIR60855', 'score': 550.77}, {'connected_gene': 'ZNF322P1', 'score': 13.51}, {'connected_gene': 'ENSG00000254633', 'score': 13.17}, {'connected_gene': 'NCBP1', 'score': 12.2}, {'connected_gene': 'TRIM14', 'score': 11.88}, {'connected_gene': 'TBC1D2', 'score': 11.33}, {'connected_gene': 'CCDC180', 'score': 10.63}, {'connected_gene': 'NANS', 'score': 8.36}, {'connected_gene': 'ENSG00000274011', 'score': 0.31}]
chr9 GH09I097670 97670481 97670807 0.22 [{'connected_gene': 'PIR56620', 'score': 550.77}, {'connected_gene': 'PIR42148', 'score': 550.77}, {'connected_gene': 'TSTD2', 'score': 1.81}, {'connected_gene': 'XPA', 'score': 1.73}, {'connected_gene': 'LOC105376171', 'score': 0.29}, {'connected_gene': 'NCBP1', 'score': 0.28}]
chr9 GH09I097660 97660979 97661128 0.2 [{'connected_gene': 'PIR56620', 'score': 0.39}, {'connected_gene': 'LOC105376171', 'score': 0.34}, {'connected_gene': 'NCBP1', 'score': 0.31}, {'connected_gene': 'XPA', 'score': 0.28}]
chr9 GH09I097231 97231950 97233090 0.95 [{'connected_gene': 'ENSG00000235494', 'score': 558.53}, {'connected_gene': 'VN1R51P', 'score': 32.68}, {'connected_gene': 'CCDC180', 'score': 26.45}, {'connected_gene': 'TSTD2', 'score': 16.65}, {'connected_gene': 'ZNF322P1', 'score': 13.82}, {'connected_gene': 'ZNF782', 'score': 13.74}, {'connected_gene': 'NCBP1', 'score': 12.67}, {'connected_gene': 'ENSG00000254633', 'score': 12.23}, {'connected_gene': 'MFSD14C', 'score': 10.96}, {'connected_gene': 'XPA', 'score': 10.79}, {'connected_gene': 'LOC441454', 'score': 10.6}, {'connected_gene': 'LOC100421693', 'score': 9.96}, {'connected_gene': 'GAS2L1P2', 'score': 4.14}, {'connected_gene': 'ENSG00000203279', 'score': 0.44}, {'connected_gene': 'ANKRD18CP', 'score': 0.39}]

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