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
ENST00000358193 [[55271735, 55271893], [55272668, 55272756], [55273198, 55273363], [55273561, 55273684], [55277466, 55277604], [55277718, 55277862], [55279486, 55279648], [55280586, 55280712], [55282661, 55282795], [55307288, 55307375], [55307473, 55307925]] [[55271789, 55271893], [55272668, 55272756], [55273198, 55273363], [55273561, 55273684], [55277466, 55277604], [55277718, 55277862], [55279486, 55279648], [55280586, 55280712], [55282661, 55282795], [55307288, 55307349]]
ENST00000371273 [[55271774, 55271893], [55272668, 55272756], [55273198, 55273363], [55273561, 55273684], [55277466, 55277604], [55277718, 55277862], [55279486, 55279648], [55280586, 55280712], [55282661, 55282795], [55307473, 55307925]] [[55271789, 55271893], [55272668, 55272756], [55273198, 55273363], [55273561, 55273684], [55277466, 55277604], [55277718, 55277862], [55279486, 55279648], [55280586, 55280712], [55282661, 55282795], [55307473, 55307546]]
NM_001110533 [[55271735, 55271893], [55272668, 55272756], [55273198, 55273363], [55273561, 55273684], [55277466, 55277604], [55277718, 55277862], [55279486, 55279648], [55280586, 55280712], [55282661, 55282795], [55307473, 55307937]] [[55271789, 55271893], [55272668, 55272756], [55273198, 55273363], [55273561, 55273684], [55277466, 55277604], [55277718, 55277862], [55279486, 55279648], [55280586, 55280712], [55282661, 55282795], [55307473, 55307546]]
NM_152607 [[55271735, 55271893], [55272668, 55272756], [55273198, 55273363], [55273561, 55273684], [55277466, 55277604], [55277718, 55277862], [55279486, 55279648], [55280586, 55280712], [55282661, 55282795], [55307288, 55307375], [55307473, 55307937]] [[55271789, 55271893], [55272668, 55272756], [55273198, 55273363], [55273561, 55273684], [55277466, 55277604], [55277718, 55277862], [55279486, 55279648], [55280586, 55280712], [55282661, 55282795], [55307288, 55307349]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I054792 54792785 54802259 2.29 [{'connected_gene': 'TTC22', 'score': 556.82}, {'connected_gene': 'LEXM', 'score': 14.56}, {'connected_gene': 'PARS2', 'score': 11.8}, {'connected_gene': 'TTC4', 'score': 10.29}, {'connected_gene': 'ENSG00000242396', 'score': 9.65}, {'connected_gene': 'DHCR24', 'score': 9.65}, {'connected_gene': 'ENSG00000233203', 'score': 9.64}, {'connected_gene': 'ENSG00000237453', 'score': 0.77}, {'connected_gene': 'PIR51709', 'score': 0.77}, {'connected_gene': 'GC01M054800', 'score': 0.77}]
chr1 GH01I054979 54979919 54980010 0.33 [{'connected_gene': 'TMEM61', 'score': 577.77}, {'connected_gene': 'LOC105378736', 'score': 550.77}, {'connected_gene': 'MROH7', 'score': 2.14}, {'connected_gene': 'LEXM', 'score': 1.89}, {'connected_gene': 'GC01P054966', 'score': 0.39}]
chr1 GH01I054803 54803714 54805590 0.79 [{'connected_gene': 'LEXM', 'score': 555.78}, {'connected_gene': 'TTC22', 'score': 5.08}, {'connected_gene': 'GC01M054800', 'score': 0.77}]
chr1 GH01I054813 54813580 54816483 0.58 [{'connected_gene': 'LEXM', 'score': 9.24}, {'connected_gene': 'GC01P054809', 'score': 0.44}, {'connected_gene': 'GC01P054854', 'score': 0.28}]
chr1 GH01I054807 54806973 54808540 0.74 [{'connected_gene': 'LEXM', 'score': 564.13}, {'connected_gene': 'GC01P054809', 'score': 0.77}]
chr1 GH01I054806 54806032 54806091 0.81 [{'connected_gene': 'LEXM', 'score': 550.77}, {'connected_gene': 'GC01M054800', 'score': 0.77}]
chr1 GH01I054871 54871024 54872962 0.65 [{'connected_gene': 'ENSG00000233203', 'score': 11.55}, {'connected_gene': 'TTC22', 'score': 10.71}, {'connected_gene': 'TMEM61', 'score': 10.32}, {'connected_gene': 'ENSG00000237453', 'score': 10.28}, {'connected_gene': 'MROH7', 'score': 9.56}, {'connected_gene': 'LEXM', 'score': 5.15}, {'connected_gene': 'PIR36544', 'score': 0.77}, {'connected_gene': 'DHCR24', 'score': 0.37}, {'connected_gene': 'GC01P054854', 'score': 0.37}]
chr1 GH01I054849 54849788 54851977 0.76 [{'connected_gene': 'ENSG00000233203', 'score': 21.5}, {'connected_gene': 'TTC22', 'score': 10.87}, {'connected_gene': 'ENSG00000242396', 'score': 10.8}, {'connected_gene': 'DHCR24', 'score': 10.8}, {'connected_gene': 'ENSG00000237453', 'score': 10.67}, {'connected_gene': 'LEXM', 'score': 6.59}, {'connected_gene': 'GC01P054854', 'score': 0.77}, {'connected_gene': 'GC01P054809', 'score': 0.26}]
chr1 GH01I054877 54874368 54874686 0.66 [{'connected_gene': 'PIR36544', 'score': 550.77}, {'connected_gene': 'MROH7', 'score': 38.79}, {'connected_gene': 'LEXM', 'score': 24.57}, {'connected_gene': 'DHCR24', 'score': 0.39}, {'connected_gene': 'GC01P054854', 'score': 0.34}]
chr1 GH01I054882 54882271 54890116 2.29 [{'connected_gene': 'ENSG00000233203', 'score': 564.79}, {'connected_gene': 'DHCR24', 'score': 562.33}, {'connected_gene': 'ENSG00000242396', 'score': 550.77}, {'connected_gene': 'SSBP3-AS1', 'score': 23.2}, {'connected_gene': 'HSPB11', 'score': 14.4}, {'connected_gene': 'ENSG00000279049', 'score': 12.58}, {'connected_gene': 'TMEM61', 'score': 10.71}, {'connected_gene': 'TTC22', 'score': 10.62}, {'connected_gene': 'PARS2', 'score': 10.52}, {'connected_gene': 'LRRC42', 'score': 10.5}, {'connected_gene': 'ENSG00000237453', 'score': 10.04}, {'connected_gene': 'TTC4', 'score': 9.99}, {'connected_gene': 'LEXM', 'score': 5.27}, {'connected_gene': 'PIR36544', 'score': 0.39}]
chr1 GH01I054864 54864880 54868308 1.11 [{'connected_gene': 'ENSG00000233203', 'score': 21.5}, {'connected_gene': 'DHCR24', 'score': 19.7}, {'connected_gene': 'ENSG00000242396', 'score': 11.81}, {'connected_gene': 'TTC22', 'score': 10.31}, {'connected_gene': 'ENSG00000237453', 'score': 10.29}, {'connected_gene': 'LEXM', 'score': 5.8}, {'connected_gene': 'TMEM61', 'score': 5.22}, {'connected_gene': 'PIR36544', 'score': 0.44}, {'connected_gene': 'GC01P054854', 'score': 0.39}]
chr1 GH01I054856 54856102 54863609 1.37 [{'connected_gene': 'ENSG00000233203', 'score': 21.3}, {'connected_gene': 'DHCR24', 'score': 19.24}, {'connected_gene': 'LEXM', 'score': 18.32}, {'connected_gene': 'ENSG00000242396', 'score': 11.78}, {'connected_gene': 'TTC22', 'score': 10.08}, {'connected_gene': 'ENSG00000237453', 'score': 9.99}, {'connected_gene': 'LDLRAD1', 'score': 9.33}, {'connected_gene': 'TCEANC2', 'score': 8.86}, {'connected_gene': 'TMEM59', 'score': 8.86}, {'connected_gene': 'TMEM61', 'score': 5.9}, {'connected_gene': 'GC01P054854', 'score': 0.44}, {'connected_gene': 'PIR36544', 'score': 0.37}]
chr1 GH01I054809 54809342 54810438 0.65 [{'connected_gene': 'GC01P054809', 'score': 550.77}, {'connected_gene': 'LEXM', 'score': 13.66}, {'connected_gene': 'GC01P054854', 'score': 0.26}]
chr1 GH01I054810 54810588 54810737 0.66 [{'connected_gene': 'GC01P054809', 'score': 550.77}, {'connected_gene': 'LEXM', 'score': 0.77}, {'connected_gene': 'GC01P054854', 'score': 0.26}]
chr1 GH01I054814 54813248 54813397 0.66 [{'connected_gene': 'GC01P054809', 'score': 0.77}, {'connected_gene': 'LEXM', 'score': 0.44}, {'connected_gene': 'GC01P054854', 'score': 0.26}]
chr1 GH01I054402 54402909 54403103 0.44 [{'connected_gene': 'ENSG00000225632', 'score': 10.93}, {'connected_gene': 'TCEANC2', 'score': 9.77}, {'connected_gene': 'TMEM59', 'score': 9.77}, {'connected_gene': 'LEXM', 'score': 7.95}, {'connected_gene': 'MROH7', 'score': 7.32}, {'connected_gene': 'PIR46432', 'score': 0.44}, {'connected_gene': 'SSBP3', 'score': 0.39}, {'connected_gene': 'GC01M054384', 'score': 0.37}]