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
ENST00000301284 [[4472283, 4472419], [4475271, 4475348], [4475441, 4475580], [4488672, 4488873], [4491562, 4491679], [4491760, 4491832], [4493699, 4493859], [4493978, 4494054], [4494162, 4494472], [4496298, 4496402], [4497954, 4498028], [4498302, 4498373], [4498810, 4498912], [4499487, 4499716], [4501202, 4501329], [4501922, 4502223]] [[4472347, 4472419], [4475271, 4475348], [4475441, 4475580], [4488672, 4488873], [4491562, 4491679], [4491760, 4491832], [4493699, 4493859], [4493978, 4494054], [4494162, 4494472], [4496298, 4496402], [4497954, 4498028], [4498302, 4498373], [4498810, 4498912], [4499487, 4499716], [4501202, 4501329], [4501922, 4502022]]
ENST00000586684 [[4472302, 4472419], [4475271, 4475348], [4475441, 4475580], [4488672, 4488873], [4491562, 4491679], [4491760, 4491832], [4493699, 4493859], [4493978, 4494054], [4494162, 4494472], [4496298, 4496402], [4497954, 4498028], [4498302, 4498373], [4498810, 4498912], [4499487, 4499716], [4501202, 4501329], [4501925, 4502219]] [[4472347, 4472419], [4475271, 4475348], [4475441, 4475580], [4488672, 4488873], [4491562, 4491679], [4491760, 4491832], [4493699, 4493859], [4493978, 4494054], [4494162, 4494472], [4496298, 4496402], [4497954, 4498028], [4498302, 4498373], [4498810, 4498912], [4499487, 4499716], [4501202, 4501329], [4501925, 4502022]]
ENST00000601353 [[4472304, 4472419], [4475271, 4475348], [4475441, 4475580], [4486379, 4486382], [4488676, 4488873], [4491562, 4491679]] [[4472347, 4472419], [4475271, 4475348], [4475441, 4475580], [4486379, 4486382], [4488676, 4488679]]
ENST00000589486 [[4474888, 4475027], [4475271, 4475348], [4475441, 4475580], [4488672, 4488873], [4491562, 4491679], [4491760, 4491832], [4493699, 4493759]] [[4488759, 4488873], [4491562, 4491679], [4491760, 4491832], [4493699, 4493759]]
ENST00000592691 [[4474908, 4475348], [4475441, 4475580], [4488672, 4488833]] [[4488759, 4488833]]
ENST00000590872 [[4475345, 4475348], [4475441, 4475580], [4488672, 4488873], [4491562, 4491679], [4491760, 4491832], [4493699, 4493859], [4493978, 4494054], [4494162, 4494472], [4496298, 4496402], [4496915, 4498028], [4498302, 4498373], [4498810, 4498912], [4499487, 4499716], [4501202, 4501329], [4501922, 4502213]] [[4475345, 4475348], [4475441, 4475580], [4488672, 4488873], [4491562, 4491679], [4491760, 4491832], [4493699, 4493859], [4493978, 4494054], [4494162, 4494472], [4496298, 4496402], [4496915, 4497153]]
ENST00000587016 [[4496329, 4496402], [4497954, 4498028], [4498302, 4498373], [4498810, 4498912], [4499487, 4499601], [4501680, 4502116]] [[4496329, 4496402], [4497954, 4498028], [4498302, 4498373], [4498810, 4498912], [4499487, 4499601], [4501680, 4501773]]
ENST00000592417 [[4498015, 4498028], [4498302, 4498373], [4498810, 4498912], [4499487, 4499526], [4499649, 4499716], [4501202, 4501329], [4501922, 4502219]] [[4498015, 4498028], [4498302, 4498373], [4498810, 4498912], [4499487, 4499526], [4499649, 4499716], [4501202, 4501329], [4501922, 4502022]]
ENST00000586428 [[4498358, 4498373], [4498810, 4498912], [4499487, 4499716], [4501202, 4502220]] [[4498358, 4498373], [4498810, 4498912], [4499487, 4499716], [4501202, 4501333]]
ENST00000591328 [[4499585, 4499716], [4501922, 4502045]] [[4499585, 4499716], [4501922, 4502045]]
ENST00000588271 [[4499625, 4499716], [4501202, 4501329], [4501473, 4501590]] [[4499625, 4499716], [4501202, 4501329], [4501473, 4501477]]
Promoter
Chrom Start End Description
chr19 4472162 4472171 CAGE_peak_10_at_HDGFRP2_5end
chr19 4472177 4472184 CAGE_peak_8_at_HDGFRP2_5end
chr19 4472187 4472206 CAGE_peak_4_at_HDGFRP2_5end
chr19 4472210 4472225 CAGE_peak_3_at_HDGFRP2_5end
chr19 4472230 4472304 CAGE_peak_1_at_HDGFRP2_5end
chr19 4488750 4488765 CAGE_peak_2_at_HDGFRP2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I005112 5112159 5114447 0.63 [{'connected_gene': 'SAFB2', 'score': 19.59}, {'connected_gene': 'ENSG00000267030', 'score': 12.25}, {'connected_gene': 'HDGFL2', 'score': 11.48}, {'connected_gene': 'KDM4B', 'score': 11.04}, {'connected_gene': 'PLIN3', 'score': 10.5}, {'connected_gene': 'RANBP3', 'score': 10.36}, {'connected_gene': 'ZNRF4', 'score': 10.24}, {'connected_gene': 'UHRF1', 'score': 4.72}, {'connected_gene': 'GC19P005127', 'score': 0.39}, {'connected_gene': 'GC19P005074', 'score': 0.28}]
chr19 GH19I004721 4721859 4726347 2.34 [{'connected_gene': 'DPP9', 'score': 563.95}, {'connected_gene': 'TRG-TCC1-1', 'score': 550.77}, {'connected_gene': 'GC19M004737', 'score': 550.77}, {'connected_gene': 'TRV-CAC3-1', 'score': 550.77}, {'connected_gene': 'GC19P004749', 'score': 550.77}, {'connected_gene': 'LOC105372250', 'score': 550.77}, {'connected_gene': 'PTPRS', 'score': 54.27}, {'connected_gene': 'SAFB2', 'score': 42.67}, {'connected_gene': 'SAFB', 'score': 39.67}, {'connected_gene': 'SNRPEP4', 'score': 37.09}, {'connected_gene': 'APBA3', 'score': 31.48}, {'connected_gene': 'CCDC94', 'score': 27.75}, {'connected_gene': 'ENSG00000267030', 'score': 27.51}, {'connected_gene': 'ENSG00000267769', 'score': 22.99}, {'connected_gene': 'ENSG00000269807', 'score': 22.03}, {'connected_gene': 'ENSG00000267138', 'score': 21.97}, {'connected_gene': 'DPP9-AS1', 'score': 21.27}, {'connected_gene': 'HDGFL2', 'score': 20.77}, {'connected_gene': 'TICAM1', 'score': 15.98}, {'connected_gene': 'PIAS4', 'score': 12.02}, {'connected_gene': 'ENSG00000267205', 'score': 11.94}, {'connected_gene': 'KDM4B', 'score': 11.57}, {'connected_gene': 'ENSG00000267980', 'score': 11.23}, {'connected_gene': 'HSD11B1L', 'score': 4.62}]
chr19 GH19I004470 4470318 4475333 2.05 [{'connected_gene': 'HDGFL2', 'score': 558.56}, {'connected_gene': 'ENSG00000267011', 'score': 550.77}, {'connected_gene': 'CACTIN-AS1', 'score': 12.77}, {'connected_gene': 'PIAS4', 'score': 10.11}, {'connected_gene': 'ENSG00000267769', 'score': 8.34}, {'connected_gene': 'GC19P004486', 'score': 0.39}]
chr19 GH19I005339 5339506 5341359 2.26 [{'connected_gene': 'PTPRS', 'score': 567.6}, {'connected_gene': 'ENSG00000267030', 'score': 30.55}, {'connected_gene': 'RANBP3', 'score': 21.32}, {'connected_gene': 'SAFB2', 'score': 19.62}, {'connected_gene': 'ENSG00000267571', 'score': 19.52}, {'connected_gene': 'SNRPEP4', 'score': 14.75}, {'connected_gene': 'SAFB', 'score': 13.09}, {'connected_gene': 'HDGFL2', 'score': 11.47}, {'connected_gene': 'DUS3L', 'score': 10.58}, {'connected_gene': 'HSD11B1L', 'score': 1.42}, {'connected_gene': 'LOC105372252', 'score': 0.77}]
chr19 GH19I005308 5308354 5309999 1.22 [{'connected_gene': 'DUS3L', 'score': 89.04}, {'connected_gene': 'ENSG00000267030', 'score': 71.9}, {'connected_gene': 'ENSG00000267571', 'score': 55.82}, {'connected_gene': 'PTPRS', 'score': 48.52}, {'connected_gene': 'SAFB', 'score': 46.09}, {'connected_gene': 'VMAC', 'score': 45.44}, {'connected_gene': 'SAFB2', 'score': 42.66}, {'connected_gene': 'ENSG00000267255', 'score': 38.9}, {'connected_gene': 'RANBP3', 'score': 37.24}, {'connected_gene': 'ENSG00000267769', 'score': 37.14}, {'connected_gene': 'KDM4B', 'score': 31.52}, {'connected_gene': 'SH3GL1', 'score': 30.35}, {'connected_gene': 'DPP9-AS1', 'score': 23.89}, {'connected_gene': 'SNRPEP4', 'score': 23.01}, {'connected_gene': 'ENSG00000269807', 'score': 11.12}, {'connected_gene': 'RPL36', 'score': 10.64}, {'connected_gene': 'ZNRF4', 'score': 10.24}, {'connected_gene': 'HDGFL2', 'score': 9.82}, {'connected_gene': 'LOC105372253', 'score': 0.37}, {'connected_gene': 'LOC105372252', 'score': 0.31}]
chr19 GH19I004668 4668969 4671885 2.04 [{'connected_gene': 'MYDGF', 'score': 558.05}, {'connected_gene': 'SNRPEP4', 'score': 12.57}, {'connected_gene': 'HDGFL2', 'score': 11.42}, {'connected_gene': 'SAFB', 'score': 10.33}, {'connected_gene': 'DPP9-AS1', 'score': 0.44}, {'connected_gene': 'GC19M004658', 'score': 0.39}]
chr19 GH19I004246 4246220 4248444 2.13 [{'connected_gene': 'CCDC94', 'score': 588.46}, {'connected_gene': 'ENSG00000280247', 'score': 550.77}, {'connected_gene': 'CACTIN', 'score': 64.44}, {'connected_gene': 'CACTIN-AS1', 'score': 57.83}, {'connected_gene': 'ENSG00000267769', 'score': 32.36}, {'connected_gene': 'ENSG00000267030', 'score': 28.28}, {'connected_gene': 'HDGFL2', 'score': 22.15}, {'connected_gene': 'PIAS4', 'score': 20.42}, {'connected_gene': 'APBA3', 'score': 18.54}, {'connected_gene': 'DPP9-AS1', 'score': 15.22}, {'connected_gene': 'CHAF1A', 'score': 13.23}, {'connected_gene': 'KDM4B', 'score': 13.22}, {'connected_gene': 'ENSG00000267138', 'score': 13.21}, {'connected_gene': 'C19orf71', 'score': 12.12}, {'connected_gene': 'ENSG00000267205', 'score': 11.96}, {'connected_gene': 'ENSG00000269807', 'score': 11.24}, {'connected_gene': 'ENSG00000268670', 'score': 11.19}, {'connected_gene': 'HMG20B', 'score': 10.68}, {'connected_gene': 'SH3GL1', 'score': 10.53}, {'connected_gene': 'FZR1', 'score': 10.4}, {'connected_gene': 'ENSG00000267255', 'score': 10.15}, {'connected_gene': 'GC19M004242', 'score': 0.77}]
chr19 GH19I003605 3605293 3609913 2.23 [{'connected_gene': 'CACTIN-AS1', 'score': 603.51}, {'connected_gene': 'TBXA2R', 'score': 550.77}, {'connected_gene': 'ZNF77', 'score': 113.43}, {'connected_gene': 'CACTIN', 'score': 107.6}, {'connected_gene': 'CCDC94', 'score': 48.22}, {'connected_gene': 'ENSG00000267030', 'score': 47.44}, {'connected_gene': 'ZNF555', 'score': 40.97}, {'connected_gene': 'ENSG00000267769', 'score': 40.03}, {'connected_gene': 'APBA3', 'score': 29.09}, {'connected_gene': 'GNA11', 'score': 27.21}, {'connected_gene': 'ZNF554', 'score': 23.7}, {'connected_gene': 'HDGFL2', 'score': 22.18}, {'connected_gene': 'ENSG00000267205', 'score': 20.2}, {'connected_gene': 'PIAS4', 'score': 20.06}, {'connected_gene': 'ENSG00000267139', 'score': 18.74}, {'connected_gene': 'ENSG00000267255', 'score': 18.6}, {'connected_gene': 'SLC39A3', 'score': 13.36}, {'connected_gene': 'ENSG00000267138', 'score': 13.29}, {'connected_gene': 'CHAF1A', 'score': 13.15}, {'connected_gene': 'C19orf71', 'score': 12.3}, {'connected_gene': 'LOC101928631', 'score': 11.77}, {'connected_gene': 'SH3GL1', 'score': 10.78}, {'connected_gene': 'FZR1', 'score': 10.52}, {'connected_gene': 'TLE2', 'score': 10.17}, {'connected_gene': 'MATK', 'score': 10.13}, {'connected_gene': 'GNG7', 'score': 9.75}, {'connected_gene': 'ENSG00000269807', 'score': 9.72}, {'connected_gene': 'GIPC3', 'score': 7.15}, {'connected_gene': 'PIR31690', 'score': 0.44}]
chr19 GH19I004741 4741992 4743436 0.68 [{'connected_gene': 'MIR7-3HG', 'score': 13.48}, {'connected_gene': 'MIR7-3', 'score': 13.48}, {'connected_gene': 'FEM1A', 'score': 13.41}, {'connected_gene': 'HDGFL2', 'score': 12.55}, {'connected_gene': 'PIAS4', 'score': 12.02}, {'connected_gene': 'PLIN3', 'score': 10.91}, {'connected_gene': 'GC19M004737', 'score': 0.37}, {'connected_gene': 'TRV-CAC3-1', 'score': 0.37}]
chr19 GH19I003867 3867703 3869682 1.33 [{'connected_gene': 'ZFR2', 'score': 559.94}, {'connected_gene': 'ZNF77', 'score': 14.07}, {'connected_gene': 'CACTIN', 'score': 13.75}, {'connected_gene': 'ENSG00000267030', 'score': 12.25}, {'connected_gene': 'HDGFL2', 'score': 11.48}, {'connected_gene': 'FZR1', 'score': 11.47}, {'connected_gene': 'C19orf71', 'score': 10.38}, {'connected_gene': 'PIR53050', 'score': 0.39}]
chr19 GH19I004227 4227348 4231543 1.66 [{'connected_gene': 'EBI3', 'score': 550.77}, {'connected_gene': 'CACTIN', 'score': 54.51}, {'connected_gene': 'CACTIN-AS1', 'score': 53.1}, {'connected_gene': 'ENSG00000267030', 'score': 38.01}, {'connected_gene': 'CCDC94', 'score': 35.9}, {'connected_gene': 'ENSG00000267769', 'score': 32.67}, {'connected_gene': 'APBA3', 'score': 23.51}, {'connected_gene': 'ENSG00000267138', 'score': 13.22}, {'connected_gene': 'DPP9-AS1', 'score': 12.92}, {'connected_gene': 'HDGFL2', 'score': 12.56}, {'connected_gene': 'C19orf71', 'score': 12.12}, {'connected_gene': 'PIAS4', 'score': 12.07}, {'connected_gene': 'ENSG00000267205', 'score': 11.96}, {'connected_gene': 'KDM4B', 'score': 11.54}, {'connected_gene': 'ENSG00000269807', 'score': 10.69}, {'connected_gene': 'FZR1', 'score': 10.4}, {'connected_gene': 'MATK', 'score': 10.09}, {'connected_gene': 'GC19M004230', 'score': 0.77}]
chr19 GH19I004719 4719392 4720796 0.83 [{'connected_gene': 'SNRPEP4', 'score': 84.73}, {'connected_gene': 'ENSG00000267030', 'score': 79.56}, {'connected_gene': 'CCDC94', 'score': 75.54}, {'connected_gene': 'SAFB', 'score': 67.9}, {'connected_gene': 'ENSG00000267769', 'score': 64.46}, {'connected_gene': 'APBA3', 'score': 61.62}, {'connected_gene': 'ENSG00000269807', 'score': 39.04}, {'connected_gene': 'SAFB2', 'score': 30.13}, {'connected_gene': 'PTPRS', 'score': 29.81}, {'connected_gene': 'DPP9-AS1', 'score': 28.69}, {'connected_gene': 'KDM4B', 'score': 22.92}, {'connected_gene': 'SH3GL1', 'score': 19.69}, {'connected_gene': 'HDGFL2', 'score': 13.26}, {'connected_gene': 'ENSG00000268670', 'score': 11.13}, {'connected_gene': 'ENSG00000267255', 'score': 10.12}, {'connected_gene': 'ENSG00000267138', 'score': 9.78}, {'connected_gene': 'RPL36', 'score': 9.74}, {'connected_gene': 'DPP9', 'score': 5.31}, {'connected_gene': 'HSD11B1L', 'score': 4.6}, {'connected_gene': 'LOC105372250', 'score': 0.77}, {'connected_gene': 'GC19M004658', 'score': 0.28}]
chr19 GH19I003535 3535745 3539853 1.53 [{'connected_gene': 'C19orf71', 'score': 559.85}, {'connected_gene': 'PIR47601', 'score': 550.77}, {'connected_gene': 'MFSD12', 'score': 33.13}, {'connected_gene': 'ZNF77', 'score': 15.22}, {'connected_gene': 'ZNF555', 'score': 14.37}, {'connected_gene': 'CACTIN', 'score': 13.1}, {'connected_gene': 'HDGFL2', 'score': 11.43}, {'connected_gene': 'GC19P003535', 'score': 0.77}, {'connected_gene': 'PIR52859', 'score': 0.77}, {'connected_gene': 'FZR1', 'score': 0.29}]
chr19 GH19I004448 4448084 4450005 0.88 [{'connected_gene': 'ENSG00000280239', 'score': 550.77}, {'connected_gene': 'ENSG00000267030', 'score': 550.77}, {'connected_gene': 'ENSG00000267769', 'score': 43.55}, {'connected_gene': 'UBXN6', 'score': 26.46}, {'connected_gene': 'HDGFL2', 'score': 12.83}, {'connected_gene': 'SH3GL1', 'score': 12.54}, {'connected_gene': 'CHAF1A', 'score': 12.54}, {'connected_gene': 'C19orf71', 'score': 12.12}, {'connected_gene': 'PIAS4', 'score': 12.04}, {'connected_gene': 'MRPL54', 'score': 9.95}, {'connected_gene': 'ENSG00000267980', 'score': 4.88}]
chr19 GH19I004840 4840017 4846899 1.39 [{'connected_gene': 'PIR52015', 'score': 550.77}, {'connected_gene': 'GC19M004846', 'score': 550.77}, {'connected_gene': 'DUS3L', 'score': 47.57}, {'connected_gene': 'ENSG00000267030', 'score': 44.23}, {'connected_gene': 'SNRPEP4', 'score': 37.49}, {'connected_gene': 'SAFB', 'score': 34.17}, {'connected_gene': 'ENSG00000267769', 'score': 33.8}, {'connected_gene': 'CCDC94', 'score': 33.45}, {'connected_gene': 'SAFB2', 'score': 20.81}, {'connected_gene': 'SH3GL1', 'score': 19.68}, {'connected_gene': 'ENSG00000269807', 'score': 19.51}, {'connected_gene': 'DPP9-AS1', 'score': 15.28}, {'connected_gene': 'KDM4B', 'score': 13.32}, {'connected_gene': 'HDGFL2', 'score': 13.24}, {'connected_gene': 'PTPRS', 'score': 12.03}, {'connected_gene': 'ENSG00000268670', 'score': 11.13}, {'connected_gene': 'ENSG00000267255', 'score': 10.11}, {'connected_gene': 'PLIN3', 'score': 6.72}, {'connected_gene': 'ENSG00000267484', 'score': 0.44}]
chr19 GH19I003719 3718674 3723512 2.47 [{'connected_gene': 'GC19P003720', 'score': 550.77}, {'connected_gene': 'TJP3', 'score': 550.39}, {'connected_gene': 'ZNF77', 'score': 40.3}, {'connected_gene': 'CACTIN', 'score': 34.5}, {'connected_gene': 'ZNF555', 'score': 29.64}, {'connected_gene': 'TLE2', 'score': 20.45}, {'connected_gene': 'MRPL54', 'score': 18.92}, {'connected_gene': 'GNA11', 'score': 18.92}, {'connected_gene': 'ZNF554', 'score': 14.06}, {'connected_gene': 'HDGFL2', 'score': 12.97}, {'connected_gene': 'APBA3', 'score': 12.76}, {'connected_gene': 'TMIGD2', 'score': 9.86}, {'connected_gene': 'FSD1', 'score': 9.86}, {'connected_gene': 'GC19P003750', 'score': 0.31}]

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