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
ENST00000342382 [[34929697, 34930021], [34933919, 34934013], [34935814, 34935938], [34936248, 34936371], [34937430, 34937735], [34938962, 34939114], [34941200, 34941288], [34944971, 34945130], [34945865, 34945908], [34950274, 34950447], [34954030, 34954106], [34954657, 34955305]] [[34929924, 34930021], [34933919, 34934013], [34935814, 34935938], [34936248, 34936371], [34937430, 34937735], [34938962, 34939114], [34941200, 34941288], [34944971, 34945130], [34945865, 34945908], [34950274, 34950447], [34954030, 34954106], [34954657, 34954819]]
ENST00000303525 [[34929697, 34930021], [34933919, 34934013], [34935814, 34935938], [34936248, 34936371], [34937430, 34937735], [34938962, 34939114], [34941200, 34941288], [34944971, 34945130], [34945826, 34945908], [34950274, 34950447], [34954030, 34954106], [34954657, 34959068]] [[34929924, 34930021], [34933919, 34934013], [34935814, 34935938], [34936248, 34936371], [34937430, 34937735], [34938962, 34939114], [34941200, 34941288], [34944971, 34945130], [34945826, 34945908], [34950274, 34950447], [34954030, 34954106], [34954657, 34954819]]
ENST00000382021 [[34929697, 34930021], [34933919, 34934013], [34935814, 34935938], [34936248, 34936371], [34937430, 34937735], [34938962, 34939114], [34941200, 34941288], [34944971, 34945130], [34945865, 34945908], [34949647, 34949782], [34950274, 34950447], [34954030, 34954106], [34954657, 34959069]] [[34929924, 34930021], [34933919, 34934013], [34935814, 34935938], [34936248, 34936371], [34937430, 34937735], [34938962, 34939114], [34941200, 34941288], [34944971, 34945130], [34945865, 34945908], [34949647, 34949782], [34950274, 34950447], [34954030, 34954106], [34954657, 34954819]]
ENST00000514237 [[34936308, 34936371], [34937430, 34937735], [34938962, 34939114], [34941200, 34941288], [34944971, 34945130], [34945826, 34945908], [34950274, 34950447], [34954030, 34954046]] None
ENST00000512136 [[34945865, 34945908], [34950274, 34950447], [34950548, 34952848]] None
ENST00000506762 [[34950311, 34950447], [34954030, 34954296]] None
ENST00000509626 [[34953630, 34954106], [34954657, 34954960]] None
NM_001012339 [[34929697, 34930021], [34933919, 34934013], [34935814, 34935938], [34936248, 34936371], [34937430, 34937735], [34938962, 34939114], [34941200, 34941288], [34944971, 34945130], [34945865, 34945908], [34950274, 34950447], [34954030, 34954106], [34954657, 34959069]] [[34929924, 34930021], [34933919, 34934013], [34935814, 34935938], [34936248, 34936371], [34937430, 34937735], [34938962, 34939114], [34941200, 34941288], [34944971, 34945130], [34945865, 34945908], [34950274, 34950447], [34954030, 34954106], [34954657, 34954819]]
NM_194283 [[34929697, 34930021], [34933919, 34934013], [34935814, 34935938], [34936248, 34936371], [34937430, 34937735], [34938962, 34939114], [34941200, 34941288], [34944971, 34945130], [34945865, 34945908], [34949647, 34949782], [34950274, 34950447], [34954030, 34954106], [34954657, 34959069]] [[34929924, 34930021], [34933919, 34934013], [34935814, 34935938], [34936248, 34936371], [34937430, 34937735], [34938962, 34939114], [34941200, 34941288], [34944971, 34945130], [34945865, 34945908], [34949647, 34949782], [34950274, 34950447], [34954030, 34954106], [34954657, 34954819]]
Promoter
Chrom Start End Description
chr5 34929629 34929671 CAGE_peak_2_at_DNAJC21_5end
chr5 34929677 34929789 CAGE_peak_1_at_DNAJC21_5end
chr5 34929947 34930005 CAGE_peak_3_at_DNAJC21_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I035046 35046097 35049358 0.57 [{'connected_gene': 'AGXT2', 'score': 550.77}, {'connected_gene': 'DNAJC21', 'score': 4.35}, {'connected_gene': 'PRLR', 'score': 0.09}]
chr5 GH05I035026 35026576 35026725 0.62 [{'connected_gene': 'AGXT2', 'score': 11.79}, {'connected_gene': 'DNAJC21', 'score': 0.15}]
chr5 GH05I035022 35022928 35024205 0.57 [{'connected_gene': 'RAD1', 'score': 13.06}, {'connected_gene': 'AGXT2', 'score': 11.79}, {'connected_gene': 'DNAJC21', 'score': 0.16}]
chr5 GH05I034913 34913676 34918084 2.1 [{'connected_gene': 'BRIX1', 'score': 550.77}, {'connected_gene': 'RAD1', 'score': 550.77}, {'connected_gene': 'DNAJC21', 'score': 18.7}, {'connected_gene': 'TTC23L', 'score': 9.85}, {'connected_gene': 'GC05P034888', 'score': 0.31}]
chr5 GH05I034006 34006415 34010897 2.54 [{'connected_gene': 'AMACR', 'score': 653.55}, {'connected_gene': 'ENSG00000249572', 'score': 12.53}, {'connected_gene': 'BRIX1', 'score': 11.8}, {'connected_gene': 'TTC23L', 'score': 10.75}, {'connected_gene': 'LOC643373', 'score': 10.41}, {'connected_gene': 'DNAJC21', 'score': 9.76}, {'connected_gene': 'C1QTNF3', 'score': 2.72}, {'connected_gene': 'C1QTNF3-AMACR', 'score': 0.13}]
chr5 GH05I034928 34928763 34931300 2.01 [{'connected_gene': 'DNAJC21', 'score': 575.53}, {'connected_gene': 'GC05P034888', 'score': 0.26}, {'connected_gene': 'AGXT2', 'score': 0.13}]
chr5 GH05I034922 34922635 34925100 1.17 [{'connected_gene': 'DNAJC21', 'score': 18.74}, {'connected_gene': 'BRIX1', 'score': 15.28}, {'connected_gene': 'LOC643373', 'score': 9.8}, {'connected_gene': 'RAD1', 'score': 0.77}, {'connected_gene': 'GC05P034888', 'score': 0.28}]
chr5 GH05I034863 34863106 34865128 0.38 [{'connected_gene': 'DNAJC21', 'score': 6.77}, {'connected_gene': 'TTC23L', 'score': 4.68}, {'connected_gene': 'ENSG00000250140', 'score': 0.77}, {'connected_gene': 'RPL21P54', 'score': 0.37}]
chr5 GH05I034866 34866628 34868044 0.93 [{'connected_gene': 'DNAJC21', 'score': 6.55}, {'connected_gene': 'ENSG00000250140', 'score': 0.44}, {'connected_gene': 'RPL21P54', 'score': 0.37}, {'connected_gene': 'TTC23L', 'score': 0.31}]
chr5 GH05I034865 34865276 34865425 0.2 [{'connected_gene': 'DNAJC21', 'score': 6.59}, {'connected_gene': 'ENSG00000250140', 'score': 0.77}, {'connected_gene': 'RPL21P54', 'score': 0.37}, {'connected_gene': 'TTC23L', 'score': 0.31}]
chr5 GH05I033929 33929440 33930827 0.54 [{'connected_gene': 'RNU6-923P', 'score': 11.14}, {'connected_gene': 'ADAMTS12', 'score': 11.06}, {'connected_gene': 'DNAJC21', 'score': 4.59}, {'connected_gene': 'RXFP3', 'score': 0.44}, {'connected_gene': 'PIR31924', 'score': 0.34}]
chr5 GH05I034891 34891692 34892462 0.38 [{'connected_gene': 'ENSG00000250234', 'score': 10.73}, {'connected_gene': 'RAI14', 'score': 10.73}, {'connected_gene': 'DNAJC21', 'score': 5.57}, {'connected_gene': 'GC05P034888', 'score': 0.77}, {'connected_gene': 'PIR35041', 'score': 0.39}, {'connected_gene': 'TTC23L', 'score': 0.23}]