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
ENST00000306052 [[53711216, 53712728], [53715051, 53715228], [53716361, 53716534], [53720788, 53720857], [53722911, 53723136], [53723990, 53724143], [53726135, 53726277], [53727739, 53727879], [53728117, 53728236], [53729840, 53730068], [53732144, 53732319], [53736699, 53736825], [53736898, 53737018], [53741302, 53741425], [53742363, 53742750], [53746258, 53746387], [53755238, 53755361], [53792544, 53792664], [53793460, 53793686]] [[53712689, 53712728], [53715051, 53715228], [53716361, 53716534], [53720788, 53720857], [53722911, 53723136], [53723990, 53724143], [53726135, 53726277], [53727739, 53727879], [53728117, 53728236], [53729840, 53730068], [53732144, 53732319], [53736699, 53736825], [53736898, 53737018], [53741302, 53741425], [53742363, 53742750], [53746258, 53746387], [53755238, 53755361], [53792544, 53792664], [53793460, 53793584]]
ENST00000371454 [[53712224, 53712728], [53716361, 53716534], [53720788, 53720857], [53722911, 53723136], [53723990, 53724143], [53726135, 53726277], [53727739, 53727879], [53728117, 53728236], [53729840, 53730068], [53732144, 53732319], [53736699, 53736825], [53736898, 53737018], [53741302, 53741425], [53742363, 53742750], [53746258, 53746387], [53755238, 53755361], [53792544, 53792664], [53793460, 53793726]] [[53712689, 53712728], [53716361, 53716534], [53720788, 53720857], [53722911, 53723136], [53723990, 53724143], [53726135, 53726277], [53727739, 53727879], [53728117, 53728236], [53729840, 53730068], [53732144, 53732319], [53736699, 53736825], [53736898, 53737018], [53741302, 53741425], [53742363, 53742750], [53746258, 53746387], [53755238, 53755361], [53792544, 53792664], [53793460, 53793584]]
ENST00000465675 [[53712239, 53712728], [53716361, 53716534], [53720788, 53720857], [53722911, 53723136], [53723990, 53724143], [53726135, 53726277], [53727739, 53727879], [53728117, 53728236], [53729840, 53730068], [53732144, 53732319], [53736898, 53737018], [53741302, 53741425], [53746258, 53746387], [53755238, 53755361], [53792544, 53792664], [53792929, 53793071]] [[53712689, 53712728], [53716361, 53716534], [53720788, 53720857], [53722911, 53723136], [53723990, 53724143], [53726135, 53726277], [53727739, 53727879], [53728117, 53728236], [53729840, 53730068], [53732144, 53732230]]
ENST00000354412 [[53712239, 53712728], [53716361, 53716534], [53720788, 53720857], [53723990, 53724143], [53726135, 53726277], [53727739, 53727879], [53728117, 53728236], [53729840, 53730068], [53732144, 53732319], [53736699, 53736825], [53736898, 53737018], [53741302, 53741425], [53746258, 53746387], [53755238, 53755361], [53792544, 53792664], [53793460, 53793584]] [[53712689, 53712728], [53716361, 53716534], [53720788, 53720857], [53723990, 53724143], [53726135, 53726277], [53727739, 53727879], [53728117, 53728236], [53729840, 53730068], [53732144, 53732319], [53736699, 53736825], [53736898, 53737018], [53741302, 53741425], [53746258, 53746387], [53755238, 53755361], [53792544, 53792664], [53793460, 53793584]]
ENST00000480045 [[53712629, 53712728], [53715051, 53715228], [53716361, 53716534], [53720788, 53720857], [53722911, 53723136], [53723990, 53724143], [53726135, 53726277], [53727739, 53727879], [53728117, 53728236], [53729840, 53730068], [53732144, 53732319], [53736699, 53736825], [53736898, 53737018], [53740371, 53740492], [53741302, 53741425], [53742363, 53742750], [53746258, 53746387], [53755238, 53755361], [53792544, 53792664], [53793460, 53793742]] [[53736966, 53737018], [53740371, 53740492], [53741302, 53741425], [53742363, 53742750], [53746258, 53746387], [53755238, 53755361], [53792544, 53792664], [53793460, 53793584]]
ENST00000347547 [[53712689, 53712728], [53715051, 53715228], [53716361, 53716534], [53720788, 53720857], [53722911, 53723136], [53723990, 53724143], [53726135, 53726277], [53727739, 53727879], [53728117, 53728236], [53729840, 53730068], [53732144, 53732319], [53736699, 53736825], [53736898, 53737018], [53746258, 53746387], [53755238, 53755361], [53792544, 53792664], [53793460, 53793584]] [[53712689, 53712728], [53715051, 53715228], [53716361, 53716534], [53720788, 53720857], [53722911, 53723136], [53723990, 53724143], [53726135, 53726277], [53727739, 53727879], [53728117, 53728236], [53729840, 53730068], [53732144, 53732319], [53736699, 53736825], [53736898, 53737018], [53746258, 53746387], [53755238, 53755361], [53792544, 53792664], [53793460, 53793584]]
ENST00000475501 [[53729840, 53730068], [53732144, 53732319], [53736699, 53736825], [53736898, 53737018], [53738275, 53738314], [53741302, 53741335]] [[53729840, 53730068], [53732144, 53732319], [53736699, 53736825], [53736898, 53737018], [53738275, 53738314], [53741302, 53741335]]
ENST00000529670 [[53711420, 53711653], [53712627, 53712728], [53716361, 53716534], [53720788, 53720857], [53722911, 53722995]] [[53712689, 53712728], [53716361, 53716534], [53720788, 53720857], [53722911, 53722995]]
ENST00000459674 [[53716436, 53716534], [53720788, 53720857], [53722911, 53723136], [53723990, 53724143], [53726135, 53726277], [53727739, 53727879], [53728117, 53728236], [53729840, 53730068], [53732144, 53734270]] None
ENST00000460214 [[53722914, 53723136], [53723680, 53723746], [53723990, 53724143], [53726135, 53726277], [53727739, 53727879], [53728117, 53728169]] None
ENST00000481431 [[53726135, 53726277], [53727739, 53727879], [53729840, 53730068], [53732144, 53732261]] [[53727818, 53727879], [53729840, 53730068], [53732144, 53732261]]
ENST00000496580 [[53755003, 53755361], [53792544, 53792664], [53793460, 53793489]] None
NM_004631 [[53708035, 53712728], [53715051, 53715228], [53716361, 53716534], [53720788, 53720857], [53722911, 53723136], [53723990, 53724143], [53726135, 53726277], [53727739, 53727879], [53728117, 53728236], [53729840, 53730068], [53732144, 53732319], [53736699, 53736825], [53736898, 53737018], [53741302, 53741425], [53742363, 53742750], [53746258, 53746387], [53755238, 53755361], [53792544, 53792664], [53793460, 53793821]] [[53712689, 53712728], [53715051, 53715228], [53716361, 53716534], [53720788, 53720857], [53722911, 53723136], [53723990, 53724143], [53726135, 53726277], [53727739, 53727879], [53728117, 53728236], [53729840, 53730068], [53732144, 53732319], [53736699, 53736825], [53736898, 53737018], [53741302, 53741425], [53742363, 53742750], [53746258, 53746387], [53755238, 53755361], [53792544, 53792664], [53793460, 53793584]]
NM_001018054 [[53708035, 53712728], [53716361, 53716534], [53720788, 53720857], [53722911, 53723136], [53723990, 53724143], [53726135, 53726277], [53727739, 53727879], [53728117, 53728236], [53729840, 53730068], [53732144, 53732319], [53736699, 53736825], [53736898, 53737018], [53741302, 53741425], [53742363, 53742750], [53746258, 53746387], [53755238, 53755361], [53792544, 53792664], [53793460, 53793821]] [[53712689, 53712728], [53716361, 53716534], [53720788, 53720857], [53722911, 53723136], [53723990, 53724143], [53726135, 53726277], [53727739, 53727879], [53728117, 53728236], [53729840, 53730068], [53732144, 53732319], [53736699, 53736825], [53736898, 53737018], [53741302, 53741425], [53742363, 53742750], [53746258, 53746387], [53755238, 53755361], [53792544, 53792664], [53793460, 53793584]]
NM_017522 [[53708035, 53712728], [53716361, 53716534], [53720788, 53720857], [53723990, 53724143], [53726135, 53726277], [53727739, 53727879], [53728117, 53728236], [53729840, 53730068], [53732144, 53732319], [53736699, 53736825], [53736898, 53737018], [53741302, 53741425], [53746258, 53746387], [53755238, 53755361], [53792544, 53792664], [53793460, 53793821]] [[53712689, 53712728], [53716361, 53716534], [53720788, 53720857], [53723990, 53724143], [53726135, 53726277], [53727739, 53727879], [53728117, 53728236], [53729840, 53730068], [53732144, 53732319], [53736699, 53736825], [53736898, 53737018], [53741302, 53741425], [53746258, 53746387], [53755238, 53755361], [53792544, 53792664], [53793460, 53793584]]
NM_033300 [[53708035, 53712728], [53715051, 53715228], [53716361, 53716534], [53720788, 53720857], [53722911, 53723136], [53723990, 53724143], [53726135, 53726277], [53727739, 53727879], [53728117, 53728236], [53729840, 53730068], [53732144, 53732319], [53736699, 53736825], [53736898, 53737018], [53746258, 53746387], [53755238, 53755361], [53792544, 53792664], [53793460, 53793821]] [[53712689, 53712728], [53715051, 53715228], [53716361, 53716534], [53720788, 53720857], [53722911, 53723136], [53723990, 53724143], [53726135, 53726277], [53727739, 53727879], [53728117, 53728236], [53729840, 53730068], [53732144, 53732319], [53736699, 53736825], [53736898, 53737018], [53746258, 53746387], [53755238, 53755361], [53792544, 53792664], [53793460, 53793584]]
Promoter
Chrom Start End Description
chr1 53793705 53793719 CAGE_peak_2_at_LRP8_5end
chr1 53793725 53793789 CAGE_peak_1_at_LRP8_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I053411 53411700 53415166 1.25 [{'connected_gene': 'LRP8', 'score': 15.93}, {'connected_gene': 'MAGOH', 'score': 11.14}, {'connected_gene': 'LOC100507564', 'score': 11.14}, {'connected_gene': 'LINC01771', 'score': 10.69}, {'connected_gene': 'ENSG00000232762', 'score': 10.62}, {'connected_gene': 'RNU7-95P', 'score': 10.02}, {'connected_gene': 'DMRTB1', 'score': 4.56}, {'connected_gene': 'SLC25A3P1', 'score': 0.31}, {'connected_gene': 'LOC105378733', 'score': 0.31}, {'connected_gene': 'ENSG00000230138', 'score': 0.25}]
chr1 GH01I053409 53409148 53410709 1.11 [{'connected_gene': 'LRP8', 'score': 4.51}, {'connected_gene': 'LOC105378733', 'score': 0.31}, {'connected_gene': 'ENSG00000230138', 'score': 0.26}]
chr1 GH01I053324 53324026 53328642 2.25 [{'connected_gene': 'LRP8', 'score': 556.28}, {'connected_gene': 'LINC01771', 'score': 550.77}, {'connected_gene': 'MAGOH', 'score': 23.78}, {'connected_gene': 'PRPF38A', 'score': 11.76}, {'connected_gene': 'RPS13P2', 'score': 11.24}, {'connected_gene': 'LRRC42', 'score': 10.9}, {'connected_gene': 'SSBP3-AS1', 'score': 10.84}, {'connected_gene': 'GPX7', 'score': 10.45}, {'connected_gene': 'C1orf123', 'score': 4.86}, {'connected_gene': 'GC01M053305', 'score': 0.37}]
chr1 GH01I053416 53416942 53417758 0.89 [{'connected_gene': 'LRP8', 'score': 10.69}, {'connected_gene': 'LINC01771', 'score': 10.69}, {'connected_gene': 'ENSG00000232762', 'score': 10.41}, {'connected_gene': 'SHISAL2A', 'score': 4.26}, {'connected_gene': 'SLC25A3P1', 'score': 0.34}, {'connected_gene': 'LOC105378733', 'score': 0.34}, {'connected_gene': 'ENSG00000230138', 'score': 0.25}]
chr1 GH01I053381 53381738 53382347 0.72 [{'connected_gene': 'LRP8', 'score': 11.79}, {'connected_gene': 'LINC01771', 'score': 11.79}, {'connected_gene': 'ENSG00000232762', 'score': 10.74}, {'connected_gene': 'ENSG00000230138', 'score': 0.39}, {'connected_gene': 'LOC105378733', 'score': 0.22}]
chr1 GH01I053328 53328769 53328918 0.58 [{'connected_gene': 'LRP8', 'score': 550.77}, {'connected_gene': 'LINC01771', 'score': 550.77}, {'connected_gene': 'LOC105378730', 'score': 0.44}]
chr1 GH01I053393 53393429 53394184 0.7 [{'connected_gene': 'LRP8', 'score': 12.83}, {'connected_gene': 'ENSG00000228838', 'score': 12.77}, {'connected_gene': 'LOC105378728', 'score': 12.74}, {'connected_gene': 'LINC01771', 'score': 11.68}, {'connected_gene': 'ZYG11A', 'score': 11.19}, {'connected_gene': 'ENSG00000230138', 'score': 0.31}, {'connected_gene': 'LOC105378733', 'score': 0.25}]
chr1 GH01I053390 53390201 53390679 0.71 [{'connected_gene': 'LRP8', 'score': 12.86}, {'connected_gene': 'ENSG00000228838', 'score': 12.8}, {'connected_gene': 'LOC105378728', 'score': 12.77}, {'connected_gene': 'LINC01771', 'score': 11.56}, {'connected_gene': 'ENSG00000232762', 'score': 10.79}, {'connected_gene': 'ENSG00000230138', 'score': 0.34}, {'connected_gene': 'LOC105378733', 'score': 0.25}]
chr1 GH01I053394 53393201 53393401 0.69 [{'connected_gene': 'LRP8', 'score': 12.83}, {'connected_gene': 'ENSG00000228838', 'score': 12.77}, {'connected_gene': 'LOC105378728', 'score': 12.74}, {'connected_gene': 'LINC01771', 'score': 11.68}, {'connected_gene': 'ENSG00000230138', 'score': 0.31}, {'connected_gene': 'LOC105378733', 'score': 0.25}]
chr1 GH01I053429 53429606 53432234 0.74 [{'connected_gene': 'DMRTB1', 'score': 11.2}, {'connected_gene': 'LRP8', 'score': 10.65}, {'connected_gene': 'MAGOH', 'score': 10.31}, {'connected_gene': 'LOC100507564', 'score': 10.31}, {'connected_gene': 'LINC01771', 'score': 10.16}, {'connected_gene': 'RNU7-95P', 'score': 9.75}, {'connected_gene': 'SLC25A3P1', 'score': 5.11}, {'connected_gene': 'LOC105378733', 'score': 0.44}, {'connected_gene': 'ENSG00000230138', 'score': 0.21}]
chr1 GH01I053835 53835064 53839200 2.12 [{'connected_gene': 'NDC1', 'score': 563.15}, {'connected_gene': 'MAGOH', 'score': 45.35}, {'connected_gene': 'SSBP3-AS1', 'score': 36.53}, {'connected_gene': 'HSPB11', 'score': 33.21}, {'connected_gene': 'LRRC42', 'score': 21.47}, {'connected_gene': 'ECHDC2', 'score': 18.27}, {'connected_gene': 'ENSG00000256407', 'score': 12.79}, {'connected_gene': 'CYB5RL', 'score': 12.55}, {'connected_gene': 'C1orf123', 'score': 10.3}, {'connected_gene': 'ENSG00000279049', 'score': 9.9}, {'connected_gene': 'ENSG00000230953', 'score': 9.82}, {'connected_gene': 'TTC4', 'score': 9.72}, {'connected_gene': 'TMEM59', 'score': 9.67}, {'connected_gene': 'TCEANC2', 'score': 9.67}, {'connected_gene': 'ENSG00000237453', 'score': 9.09}, {'connected_gene': 'TTC22', 'score': 9.09}, {'connected_gene': 'YIPF1', 'score': 6.06}, {'connected_gene': 'LRP8', 'score': 4.73}, {'connected_gene': 'ENSG00000201003', 'score': 0.2}, {'connected_gene': 'GC01M053772', 'score': 0.2}]
chr1 GH01I053249 53249026 53250617 0.46 [{'connected_gene': 'C1orf123', 'score': 11.28}, {'connected_gene': 'LRP8', 'score': 10.85}, {'connected_gene': 'LINC01771', 'score': 10.27}, {'connected_gene': 'CPT2', 'score': 9.88}, {'connected_gene': 'LOC105378728', 'score': 0.44}, {'connected_gene': 'GC01M053244', 'score': 0.44}]
chr1 GH01I053321 53321009 53322288 0.49 [{'connected_gene': 'C1orf123', 'score': 4.93}, {'connected_gene': 'LRP8', 'score': 0.44}, {'connected_gene': 'GC01M053305', 'score': 0.39}]
chr1 GH01I053245 53245971 53247414 0.54 [{'connected_gene': 'C1orf123', 'score': 35.36}, {'connected_gene': 'CPT2', 'score': 10.56}, {'connected_gene': 'ENSG00000232762', 'score': 9.86}, {'connected_gene': 'GC01M053244', 'score': 0.77}, {'connected_gene': 'LOC105378728', 'score': 0.44}, {'connected_gene': 'LRP8', 'score': 0.18}]
chr1 GH01I053237 53237598 53239598 2.32 [{'connected_gene': 'MAGOH', 'score': 574.79}, {'connected_gene': 'LOC100507564', 'score': 550.77}, {'connected_gene': 'C1orf123', 'score': 28.65}, {'connected_gene': 'NDC1', 'score': 22.26}, {'connected_gene': 'CYB5RL', 'score': 21.53}, {'connected_gene': 'ZCCHC11', 'score': 20.71}, {'connected_gene': 'ENSG00000230953', 'score': 20.41}, {'connected_gene': 'SSBP3-AS1', 'score': 13.69}, {'connected_gene': 'ENSG00000236723', 'score': 11.51}, {'connected_gene': 'LRP8', 'score': 10.66}, {'connected_gene': 'LINC01771', 'score': 10.66}, {'connected_gene': 'LRRC42', 'score': 10.02}, {'connected_gene': 'ECHDC2', 'score': 9.95}, {'connected_gene': 'ENSG00000256407', 'score': 9.8}, {'connected_gene': 'PIR31553', 'score': 0.37}]
chr1 GH01I053315 53315755 53317941 0.92 [{'connected_gene': 'TCEANC2', 'score': 8.82}, {'connected_gene': 'SLC1A7', 'score': 4.89}, {'connected_gene': 'GC01M053305', 'score': 0.44}, {'connected_gene': 'LRP8', 'score': 0.39}]
chr1 GH01I053254 53254349 53254498 0.54 [{'connected_gene': 'LOC105378728', 'score': 550.77}, {'connected_gene': 'LRP8', 'score': 11.14}, {'connected_gene': 'LINC01771', 'score': 11.14}, {'connected_gene': 'ENSG00000232762', 'score': 10.7}, {'connected_gene': 'GC01M053244', 'score': 0.44}]
chr1 GH01I053291 53291794 53295452 0.93 [{'connected_gene': 'ENSG00000225030', 'score': 550.77}, {'connected_gene': 'LRP8', 'score': 28.68}, {'connected_gene': 'LINC01771', 'score': 12.01}, {'connected_gene': 'C1orf123', 'score': 11.43}, {'connected_gene': 'TCEANC2', 'score': 6.46}, {'connected_gene': 'GC01P053298', 'score': 0.77}, {'connected_gene': 'GC01P053291', 'score': 0.77}, {'connected_gene': 'LOC105378726', 'score': 0.77}]
chr1 GH01I053367 53367212 53369121 1.05 [{'connected_gene': 'ENSG00000230138', 'score': 550.77}, {'connected_gene': 'LRP8', 'score': 16.08}, {'connected_gene': 'LINC01771', 'score': 11.66}, {'connected_gene': 'ENSG00000232762', 'score': 10.97}, {'connected_gene': 'RNU7-95P', 'score': 9.17}, {'connected_gene': 'ENSG00000226938', 'score': 0.37}]
chr1 GH01I053295 53295801 53296400 0.67 [{'connected_gene': 'GC01P053298', 'score': 550.77}, {'connected_gene': 'LRP8', 'score': 12.09}, {'connected_gene': 'LOC105378728', 'score': 12.05}, {'connected_gene': 'LINC01771', 'score': 11.38}, {'connected_gene': 'C1orf123', 'score': 9.34}, {'connected_gene': 'ENSG00000225030', 'score': 0.77}, {'connected_gene': 'LOC105378726', 'score': 0.44}]
chr1 GH01I053278 53278349 53278495 0.65 [{'connected_gene': 'ENSG00000228838', 'score': 0.44}, {'connected_gene': 'LOC105378728', 'score': 0.34}, {'connected_gene': 'LRP8', 'score': 0.25}]

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