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
ENST00000369037 [[107473760, 107475981], [107515025, 107515058], [107531642, 107531774], [107533312, 107533486], [107566751, 107566823], [107595232, 107595431], [107655401, 107655536], [107780193, 107780767]] [[107475822, 107475981], [107515025, 107515058], [107531642, 107531774], [107533312, 107533486], [107566751, 107566823], [107595232, 107595431], [107655401, 107655536], [107780193, 107780489]]
ENST00000453874 [[107475649, 107475981], [107515025, 107515058], [107566751, 107566823], [107595232, 107595431], [107655401, 107655536], [107780193, 107780760]] [[107475822, 107475981], [107515025, 107515058], [107566751, 107566823], [107595232, 107595431], [107655401, 107655536], [107780193, 107780489]]
ENST00000369031 [[107585389, 107585716], [107595232, 107595431], [107655401, 107655536], [107780193, 107780768]] [[107585623, 107585716], [107595232, 107595431], [107655401, 107655536], [107780193, 107780489]]
ENST00000449027 [[107519044, 107519102], [107531642, 107531774], [107533312, 107533363]] [[107519044, 107519102], [107531642, 107531774], [107533312, 107533363]]
NM_020381 [[107473760, 107475981], [107515025, 107515058], [107531642, 107531774], [107533312, 107533486], [107566751, 107566823], [107595232, 107595431], [107655401, 107655536], [107780193, 107780779]] [[107475822, 107475981], [107515025, 107515058], [107531642, 107531774], [107533312, 107533486], [107566751, 107566823], [107595232, 107595431], [107655401, 107655536], [107780193, 107780489]]
Promoter
Chrom Start End Description
chr6 107780574 107780581 CAGE_peak_7_at_PDSS2_5end
chr6 107780625 107780638 CAGE_peak_4_at_PDSS2_5end
chr6 107780670 107780691 CAGE_peak_3_at_PDSS2_5end
chr6 107780708 107780748 CAGE_peak_2_at_PDSS2_5end
chr6 107780751 107780786 CAGE_peak_1_at_PDSS2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I107453 107453649 107454067 0.43 [{'connected_gene': 'BEND3', 'score': 1.26}, {'connected_gene': 'PIR39325', 'score': 0.77}, {'connected_gene': 'PDSS2', 'score': 0.44}, {'connected_gene': 'GC06P107406', 'score': 0.25}]
chr6 GH06I107458 107458400 107460652 2.09 [{'connected_gene': 'PDSS2', 'score': 550.77}, {'connected_gene': 'PIR39325', 'score': 550.77}, {'connected_gene': 'SOBP', 'score': 5.56}]
chr6 GH06I107151 107151691 107155118 0.73 [{'connected_gene': 'PDSS2', 'score': 6.5}, {'connected_gene': 'RNU6-1299P', 'score': 0.34}, {'connected_gene': 'ENSG00000276620', 'score': 0.28}]
chr6 GH06I107437 107437173 107438640 0.2 [{'connected_gene': 'PDSS2', 'score': 12.79}, {'connected_gene': 'PIR39325', 'score': 0.34}, {'connected_gene': 'GC06P107406', 'score': 0.29}]
chr6 GH06I107220 107220877 107222158 0.67 [{'connected_gene': 'PDSS2', 'score': 8.42}, {'connected_gene': 'GC06M107226', 'score': 0.77}, {'connected_gene': 'ENSG00000276620', 'score': 0.31}]
chr6 GH06I107202 107202917 107203066 0.52 [{'connected_gene': 'PDSS2', 'score': 4.83}, {'connected_gene': 'ENSG00000276620', 'score': 0.39}, {'connected_gene': 'GC06M107226', 'score': 0.34}]
chr6 GH06I107241 107241066 107242852 0.96 [{'connected_gene': 'SOBP', 'score': 7.74}, {'connected_gene': 'PDSS2', 'score': 4.6}, {'connected_gene': 'GC06P107237', 'score': 0.77}, {'connected_gene': 'GC06P107246', 'score': 0.77}]
chr6 GH06I107452 107452129 107452198 0.23 [{'connected_gene': 'SOBP', 'score': 1.9}, {'connected_gene': 'PDSS2', 'score': 0.44}, {'connected_gene': 'PIR39325', 'score': 0.44}, {'connected_gene': 'GC06P107406', 'score': 0.25}]
chr6 GH06I107488 107488477 107496399 2.44 [{'connected_gene': 'SOBP', 'score': 556.02}, {'connected_gene': 'PDSS2', 'score': 10.74}, {'connected_gene': 'ENSG00000234206', 'score': 0.37}, {'connected_gene': 'GC06M107466', 'score': 0.34}]
chr6 GH06I107318 107318200 107318401 0.72 [{'connected_gene': 'SOBP', 'score': 4.62}, {'connected_gene': 'GC06P107268', 'score': 0.25}, {'connected_gene': 'PIR39423', 'score': 0.22}, {'connected_gene': 'PDSS2', 'score': 0.11}]
chr6 GH06I107290 107290577 107290928 0.52 [{'connected_gene': 'SOBP', 'score': 5.8}, {'connected_gene': 'GC06P107268', 'score': 0.34}, {'connected_gene': 'PIR39423', 'score': 0.18}, {'connected_gene': 'PDSS2', 'score': 0.1}]
chr6 GH06I107329 107329995 107331139 0.56 [{'connected_gene': 'SOBP', 'score': 13.08}, {'connected_gene': 'LINC02526', 'score': 4.82}, {'connected_gene': 'PIR39423', 'score': 0.26}, {'connected_gene': 'GC06P107268', 'score': 0.21}, {'connected_gene': 'PDSS2', 'score': 0.13}]
chr6 GH06I107812 107812445 107812794 0.33 [{'connected_gene': 'SCML4', 'score': 12.47}, {'connected_gene': 'PDSS2', 'score': 1.87}, {'connected_gene': 'ENSG00000280135', 'score': 0.14}]
chr6 GH06I107211 107211721 107212747 0.77 [{'connected_gene': 'GC06M107226', 'score': 0.39}, {'connected_gene': 'ENSG00000276620', 'score': 0.37}, {'connected_gene': 'PDSS2', 'score': 0.07}]
chr6 GH06I107264 107264417 107264506 0.88 [{'connected_gene': 'GC06M107263', 'score': 550.77}, {'connected_gene': 'GC06P107268', 'score': 0.77}, {'connected_gene': 'PDSS2', 'score': 0.08}]
chr6 GH06I107300 107300587 107300971 0.22 [{'connected_gene': 'GC06P107268', 'score': 0.29}, {'connected_gene': 'PIR39423', 'score': 0.19}, {'connected_gene': 'PDSS2', 'score': 0.1}]
chr6 GH06I107274 107274952 107276119 0.92 [{'connected_gene': 'GC06P107268', 'score': 0.44}, {'connected_gene': 'PIR39423', 'score': 0.15}, {'connected_gene': 'PDSS2', 'score': 0.09}]
chr6 GH06I107323 107323517 107323646 0.2 [{'connected_gene': 'PIR39423', 'score': 0.23}, {'connected_gene': 'GC06P107268', 'score': 0.22}, {'connected_gene': 'PDSS2', 'score': 0.12}]
chr6 GH06I107362 107362057 107362226 0.69 [{'connected_gene': 'PIR39423', 'score': 0.39}, {'connected_gene': 'GC06P107268', 'score': 0.16}, {'connected_gene': 'PDSS2', 'score': 0.15}]
chr6 GH06I107304 107304237 107305079 0.38 [{'connected_gene': 'GC06P107268', 'score': 0.28}, {'connected_gene': 'PIR39423', 'score': 0.2}, {'connected_gene': 'PDSS2', 'score': 0.1}]