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
ENST00000457685 [[45129700, 45131736], [45132852, 45132945], [45133252, 45133379], [45134945, 45135097], [45140720, 45140779], [45141178, 45142198]] [[45129934, 45131736], [45132852, 45132945], [45133252, 45133286]]
ENST00000593880 [[45129706, 45131736], [45132852, 45132998], [45133252, 45133379], [45134945, 45135277]] [[45129934, 45131736], [45132852, 45132998], [45133252, 45133379], [45134945, 45134982]]
ENST00000347606 [[45129730, 45131736], [45132852, 45132945], [45133252, 45133379], [45140720, 45140779], [45142048, 45142193]] [[45129934, 45131736], [45132852, 45132945], [45133252, 45133379], [45140720, 45140741]]
ENST00000596323 [[45131343, 45131736], [45132852, 45132945], [45133252, 45135009]] [[45131343, 45131736], [45132852, 45132945], [45133252, 45133286]]
NR_073026 [[45128268, 45131736], [45132852, 45132945], [45133252, 45133379], [45141178, 45141205], [45142048, 45142198]] None
NM_018102 [[45128268, 45131736], [45132852, 45132945], [45133252, 45133379], [45140720, 45140779], [45142048, 45142198]] [[45129934, 45131736], [45132852, 45132945], [45133252, 45133379], [45140720, 45140741]]
NM_001270497 [[45128268, 45131736], [45132852, 45132945], [45133252, 45133379], [45138243, 45138390], [45140720, 45140779], [45142135, 45142198]] [[45129934, 45131736], [45132852, 45132945], [45133252, 45133379], [45138243, 45138261]]
Promoter
Chrom Start End Description
chr20 45142154 45142227 CAGE_peak_1_at_ZNF334_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I045880 45880542 45882001 2.05 [{'connected_gene': 'ZSWIM1', 'score': 560.52}, {'connected_gene': 'NCOA5', 'score': 73.66}, {'connected_gene': 'TP53RK', 'score': 39.06}, {'connected_gene': 'PCIF1', 'score': 33.36}, {'connected_gene': 'CD40', 'score': 26.17}, {'connected_gene': 'ZNF335', 'score': 25.63}, {'connected_gene': 'WFDC3', 'score': 24.76}, {'connected_gene': 'SLC35C2', 'score': 24.3}, {'connected_gene': 'SPATA25', 'score': 23.18}, {'connected_gene': 'RPS2P7', 'score': 10.46}, {'connected_gene': 'NEURL2', 'score': 10.29}, {'connected_gene': 'SYS1', 'score': 9.79}, {'connected_gene': 'ZNF334', 'score': 9.66}]
chr20 GH20I046568 46568484 46569320 1 [{'connected_gene': 'SLC13A3', 'score': 20.0}, {'connected_gene': 'SLC2A10', 'score': 10.02}, {'connected_gene': 'ZNF334', 'score': 8.67}, {'connected_gene': 'OCSTAMP', 'score': 0.37}, {'connected_gene': 'ENSG00000273893', 'score': 0.14}]
chr20 GH20I046553 46551594 46553565 1.41 [{'connected_gene': 'SLC13A3', 'score': 15.85}, {'connected_gene': 'ZNF334', 'score': 13.0}, {'connected_gene': 'CD40', 'score': 7.84}, {'connected_gene': 'OCSTAMP', 'score': 5.46}, {'connected_gene': 'GC20P046542', 'score': 0.39}, {'connected_gene': 'ENSG00000273893', 'score': 0.13}]
chr20 GH20I046574 46574458 46574893 0.66 [{'connected_gene': 'SLC13A3', 'score': 15.98}, {'connected_gene': 'ZNF334', 'score': 11.56}, {'connected_gene': 'OCSTAMP', 'score': 0.34}, {'connected_gene': 'ENSG00000273893', 'score': 0.14}]
chr20 GH20I046562 46562036 46564024 1.32 [{'connected_gene': 'SLC13A3', 'score': 19.68}, {'connected_gene': 'ZNF334', 'score': 12.14}, {'connected_gene': 'OCSTAMP', 'score': 0.39}, {'connected_gene': 'ENSG00000273893', 'score': 0.13}]
chr20 GH20I046573 46573301 46574449 0.72 [{'connected_gene': 'SLC13A3', 'score': 19.7}, {'connected_gene': 'ZNF334', 'score': 11.56}, {'connected_gene': 'OCSTAMP', 'score': 0.34}, {'connected_gene': 'ENSG00000273893', 'score': 0.14}]
chr20 GH20I046575 46575148 46577599 0.54 [{'connected_gene': 'SLC13A3', 'score': 19.72}, {'connected_gene': 'ZNF334', 'score': 18.43}, {'connected_gene': 'OCSTAMP', 'score': 0.31}, {'connected_gene': 'ENSG00000273893', 'score': 0.14}]
chr20 GH20I046558 46558082 46559991 1.15 [{'connected_gene': 'SLC13A3', 'score': 18.64}, {'connected_gene': 'ZNF334', 'score': 11.01}, {'connected_gene': 'OCSTAMP', 'score': 0.44}, {'connected_gene': 'ENSG00000273893', 'score': 0.13}]
chr20 GH20I046566 46566978 46568202 0.31 [{'connected_gene': 'SLC13A3', 'score': 19.84}, {'connected_gene': 'ZNF334', 'score': 4.76}, {'connected_gene': 'OCSTAMP', 'score': 0.37}, {'connected_gene': 'ENSG00000273893', 'score': 0.14}]
chr20 GH20I046306 46306862 46307315 1.12 [{'connected_gene': 'CDH22', 'score': 555.96}, {'connected_gene': 'SLC12A5', 'score': 2.77}, {'connected_gene': 'ZNF334', 'score': 1.96}, {'connected_gene': 'GC20M046270', 'score': 0.29}]
chr20 GH20I045967 45967966 45973781 2.37 [{'connected_gene': 'ZNF335', 'score': 620.48}, {'connected_gene': 'NCOA5', 'score': 159.36}, {'connected_gene': 'SLC35C2', 'score': 62.84}, {'connected_gene': 'TP53RK', 'score': 60.0}, {'connected_gene': 'ZNF334', 'score': 58.65}, {'connected_gene': 'PCIF1', 'score': 51.73}, {'connected_gene': 'ZNF663P', 'score': 40.77}, {'connected_gene': 'CD40', 'score': 38.96}, {'connected_gene': 'ENSG00000271984', 'score': 24.1}, {'connected_gene': 'SPATA25', 'score': 19.43}, {'connected_gene': 'SYS1', 'score': 18.98}, {'connected_gene': 'PLTP', 'score': 11.22}, {'connected_gene': 'ENSG00000271784', 'score': 11.16}, {'connected_gene': 'ZSWIM1', 'score': 10.73}, {'connected_gene': 'PIGT', 'score': 9.82}, {'connected_gene': 'MKRN7P', 'score': 9.67}, {'connected_gene': 'WFDC3', 'score': 6.37}]
chr20 GH20I046226 46226691 46226977 0.47 [{'connected_gene': 'NCOA5', 'score': 10.1}, {'connected_gene': 'SLC12A5', 'score': 2.07}, {'connected_gene': 'CDH22', 'score': 2.01}, {'connected_gene': 'ZNF334', 'score': 1.68}, {'connected_gene': 'GC20P046245', 'score': 0.37}, {'connected_gene': 'ENSG00000229957', 'score': 0.22}]
chr20 GH20I046255 46255522 46255691 0.86 [{'connected_gene': 'NCOA5', 'score': 76.44}, {'connected_gene': 'ZNF334', 'score': 40.94}, {'connected_gene': 'ZNF663P', 'score': 31.76}, {'connected_gene': 'ZSWIM1', 'score': 15.29}, {'connected_gene': 'TP53RK', 'score': 11.45}, {'connected_gene': 'SPATA25', 'score': 10.86}, {'connected_gene': 'ZNF335', 'score': 10.81}, {'connected_gene': 'ZSWIM3', 'score': 10.09}, {'connected_gene': 'SLC2A10', 'score': 9.79}, {'connected_gene': 'ELMO2', 'score': 9.47}, {'connected_gene': 'GC20M046239', 'score': 0.77}, {'connected_gene': 'GC20M046270', 'score': 0.37}, {'connected_gene': 'CDH22', 'score': 0.23}]
chr20 GH20I046088 46088090 46090756 2.09 [{'connected_gene': 'NCOA5', 'score': 584.6}, {'connected_gene': 'TP53RK', 'score': 26.75}, {'connected_gene': 'ZNF335', 'score': 23.99}, {'connected_gene': 'CD40', 'score': 23.77}, {'connected_gene': 'PCIF1', 'score': 23.38}, {'connected_gene': 'ZNF334', 'score': 18.67}, {'connected_gene': 'SNX21', 'score': 16.65}, {'connected_gene': 'ENSG00000271984', 'score': 12.52}, {'connected_gene': 'ZSWIM1', 'score': 11.14}, {'connected_gene': 'DNTTIP1', 'score': 10.38}, {'connected_gene': 'SLC35C2', 'score': 10.05}, {'connected_gene': 'LOC105372632', 'score': 0.2}]
chr20 GH20I046430 46430762 46431184 0.25 [{'connected_gene': 'SLC12A5', 'score': 7.88}, {'connected_gene': 'CDH22', 'score': 4.91}, {'connected_gene': 'ZNF334', 'score': 1.69}, {'connected_gene': 'ELMO2', 'score': 0.77}, {'connected_gene': 'LOC105372633', 'score': 0.34}, {'connected_gene': 'ZNF663P', 'score': 0.31}, {'connected_gene': 'GC20M046427', 'score': 0.31}]
chr20 GH20I046021 46021082 46022401 1.94 [{'connected_gene': 'SLC12A5', 'score': 562.99}, {'connected_gene': 'LOC105372632', 'score': 550.77}, {'connected_gene': 'SLC12A5-AS1', 'score': 550.77}, {'connected_gene': 'CD40', 'score': 14.85}, {'connected_gene': 'PCIF1', 'score': 12.01}, {'connected_gene': 'ZNF334', 'score': 10.59}, {'connected_gene': 'NCOA5', 'score': 10.54}, {'connected_gene': 'SYS1', 'score': 9.78}]
chr20 GH20I046544 46544702 46545791 0.92 [{'connected_gene': 'ZNF334', 'score': 27.12}, {'connected_gene': 'SLC2A10', 'score': 10.14}, {'connected_gene': 'ZSWIM1', 'score': 4.46}, {'connected_gene': 'GC20P046542', 'score': 0.77}, {'connected_gene': 'OCSTAMP', 'score': 0.44}]
chr20 GH20I046522 46522642 46523884 0.79 [{'connected_gene': 'ZNF334', 'score': 60.64}, {'connected_gene': 'OCSTAMP', 'score': 11.42}, {'connected_gene': 'SLC13A3', 'score': 10.35}, {'connected_gene': 'SLC2A10', 'score': 9.7}, {'connected_gene': 'ELMO2', 'score': 9.19}, {'connected_gene': 'GC20M046507', 'score': 0.77}]
chr20 GH20I046565 46565033 46566142 0.54 [{'connected_gene': 'ZNF334', 'score': 4.76}, {'connected_gene': 'OCSTAMP', 'score': 0.37}, {'connected_gene': 'SLC13A3', 'score': 0.13}, {'connected_gene': 'ENSG00000273893', 'score': 0.13}]
chr20 GH20I047240 47240749 47242765 0.92 [{'connected_gene': 'ZNF334', 'score': 13.61}, {'connected_gene': 'ENSG00000271784', 'score': 11.17}, {'connected_gene': 'RNU6-497P', 'score': 10.43}, {'connected_gene': 'RPL35AP', 'score': 10.43}, {'connected_gene': 'ZMYND8', 'score': 6.22}, {'connected_gene': 'NCOA3', 'score': 1.2}, {'connected_gene': 'GC20M047253', 'score': 0.37}, {'connected_gene': 'MIR3616', 'score': 0.19}]
chr20 GH20I046512 46512801 46514171 1.89 [{'connected_gene': 'ZNF334', 'score': 617.55}, {'connected_gene': 'GC20M046507', 'score': 0.39}, {'connected_gene': 'ENSG00000283757', 'score': 0.37}]
chr20 GH20I047382 47382020 47385837 1.63 [{'connected_gene': 'ZMYND8', 'score': 11.94}, {'connected_gene': 'NCOA3', 'score': 11.46}, {'connected_gene': 'ZNF334', 'score': 11.14}, {'connected_gene': 'GC20P047395', 'score': 0.39}, {'connected_gene': 'GC20M047326', 'score': 0.34}, {'connected_gene': 'LINC01754', 'score': 0.31}]
chr20 GH20I046894 46894567 46896068 1.77 [{'connected_gene': 'EYA2', 'score': 556.24}, {'connected_gene': 'ZNF334', 'score': 9.8}, {'connected_gene': 'LOC101927355', 'score': 0.44}]
chr20 GH20I045822 45822801 45825423 1.2 [{'connected_gene': 'WFDC3', 'score': 45.37}, {'connected_gene': 'PLTP', 'score': 15.49}, {'connected_gene': 'NCOA5', 'score': 14.75}, {'connected_gene': 'ACOT8', 'score': 11.15}, {'connected_gene': 'ZSWIM3', 'score': 11.15}, {'connected_gene': 'ZSWIM1', 'score': 10.84}, {'connected_gene': 'DNTTIP1', 'score': 10.64}, {'connected_gene': 'ZNF334', 'score': 10.5}, {'connected_gene': 'SPATA25', 'score': 10.49}, {'connected_gene': 'NEURL2', 'score': 10.49}, {'connected_gene': 'CTSA', 'score': 10.49}, {'connected_gene': 'SNX21', 'score': 0.44}, {'connected_gene': 'TNNC2', 'score': 0.44}, {'connected_gene': 'UBE2C', 'score': 0.39}]
chr20 GH20I046521 46521082 46521251 0.84 [{'connected_gene': 'OCSTAMP', 'score': 11.42}, {'connected_gene': 'SLC2A10', 'score': 10.95}, {'connected_gene': 'SLC13A3', 'score': 10.79}, {'connected_gene': 'ZNF334', 'score': 0.44}, {'connected_gene': 'GC20M046507', 'score': 0.44}]
chr20 GH20I046580 46580838 46582305 0.54 [{'connected_gene': 'OCSTAMP', 'score': 11.48}, {'connected_gene': 'ZNF334', 'score': 4.89}, {'connected_gene': 'SLC13A3', 'score': 0.15}, {'connected_gene': 'ENSG00000273893', 'score': 0.15}]
chr20 GH20I046551 46550801 46551000 0.51 [{'connected_gene': 'OCSTAMP', 'score': 550.77}, {'connected_gene': 'ZNF334', 'score': 13.81}, {'connected_gene': 'GC20P046542', 'score': 0.44}, {'connected_gene': 'ENSG00000273893', 'score': 0.12}]
chr20 GH20I046375 46375195 46377261 0.65 [{'connected_gene': 'TP53RK', 'score': 11.46}, {'connected_gene': 'SLC2A10', 'score': 9.8}, {'connected_gene': 'ZNF334', 'score': 9.78}, {'connected_gene': 'GC20M046352', 'score': 0.44}, {'connected_gene': 'ENSG00000273828', 'score': 0.39}, {'connected_gene': 'LOC105372633', 'score': 0.29}, {'connected_gene': 'ELMO2', 'score': 0.22}]
chr20 GH20I047410 47410289 47418217 1.34 [{'connected_gene': 'LINC01754', 'score': 556.22}, {'connected_gene': 'NCOA3', 'score': 13.47}, {'connected_gene': 'ZNF334', 'score': 12.78}, {'connected_gene': 'LOC100419565', 'score': 12.15}, {'connected_gene': 'TP53RK', 'score': 12.05}, {'connected_gene': 'ZNF663P', 'score': 10.36}, {'connected_gene': 'LINC00494', 'score': 5.08}, {'connected_gene': 'GC20M047416', 'score': 0.77}]

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