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
ENST00000373116 [[36921318, 36921526], [36921787, 36921979], [36923523, 36923582], [36926292, 36926377], [36926864, 36926913], [36927688, 36927764], [36929406, 36929451], [36929746, 36930038]] [[36921388, 36921526], [36921787, 36921979], [36923523, 36923582], [36926292, 36926377], [36926864, 36926913], [36927688, 36927764], [36929406, 36929451], [36929746, 36929876]]
ENST00000488606 [[36921372, 36921526], [36921787, 36921979], [36923523, 36925304]] None
ENST00000477040 [[36921373, 36921526], [36921787, 36922167]] None
ENST00000462067 [[36921374, 36921526], [36921787, 36921979], [36923523, 36924727], [36929882, 36929946]] None
NM_031280 [[36921361, 36921526], [36921787, 36921979], [36923523, 36923582], [36926292, 36926377], [36926864, 36926913], [36927688, 36927764], [36929406, 36929451], [36929746, 36930040]] [[36921388, 36921526], [36921787, 36921979], [36923523, 36923582], [36926292, 36926377], [36926864, 36926913], [36927688, 36927764], [36929406, 36929451], [36929746, 36929876]]
Promoter
Chrom Start End Description
chr1 36921824 36921829 CAGE_peak_9_at_MRPS15_5end
chr1 36921851 36921874 CAGE_peak_6_at_MRPS15_5end
chr1 36929813 36929867 CAGE_peak_5_at_MRPS15_5end
chr1 36929871 36929891 CAGE_peak_3_at_MRPS15_5end
chr1 36929919 36929932 CAGE_peak_2_at_MRPS15_5end
chr1 36929936 36929999 CAGE_peak_1_at_MRPS15_5end
chr1 36930012 36930026 CAGE_peak_4_at_MRPS15_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I036516 36516440 36516589 0.75 [{'connected_gene': 'THRAP3', 'score': 12.3}, {'connected_gene': 'LOC105378647', 'score': 12.16}, {'connected_gene': 'CSF3R', 'score': 12.05}, {'connected_gene': 'MRPS15', 'score': 11.99}, {'connected_gene': 'EVA1B', 'score': 11.19}, {'connected_gene': 'OSCP1', 'score': 10.77}, {'connected_gene': 'GC01M036518', 'score': 0.37}]
chr1 GH01I036463 36463200 36466142 2.15 [{'connected_gene': 'MRPS15', 'score': 550.77}, {'connected_gene': 'AGO3', 'score': 22.88}, {'connected_gene': 'THRAP3', 'score': 21.87}, {'connected_gene': 'LOC105378647', 'score': 19.0}, {'connected_gene': 'TRAPPC3', 'score': 13.33}, {'connected_gene': 'STK40', 'score': 13.01}, {'connected_gene': 'OSCP1', 'score': 12.82}, {'connected_gene': 'EVA1B', 'score': 10.12}, {'connected_gene': 'CSF3R', 'score': 0.37}]
chr1 GH01I036489 36489600 36489749 0.71 [{'connected_gene': 'MRPS15', 'score': 12.14}, {'connected_gene': 'OSCP1', 'score': 10.84}, {'connected_gene': 'SNORA63C', 'score': 10.25}, {'connected_gene': 'CSF3R', 'score': 0.44}, {'connected_gene': 'GC01M036518', 'score': 0.26}]
chr1 GH01I036484 36484954 36489119 1.44 [{'connected_gene': 'CSF3R', 'score': 46.65}, {'connected_gene': 'OSCP1', 'score': 15.51}, {'connected_gene': 'MRPS15', 'score': 12.17}, {'connected_gene': 'SNORA63C', 'score': 10.26}, {'connected_gene': 'THRAP3', 'score': 9.01}, {'connected_gene': 'STK40', 'score': 8.77}, {'connected_gene': 'MAP7D1', 'score': 5.05}, {'connected_gene': 'SH3D21', 'score': 1.44}, {'connected_gene': 'LSM10', 'score': 1.41}, {'connected_gene': 'GC01M036518', 'score': 0.25}]
chr1 GH01I036481 36481141 36483900 1.75 [{'connected_gene': 'CSF3R', 'score': 550.77}, {'connected_gene': 'OSCP1', 'score': 17.96}, {'connected_gene': 'SNORA63C', 'score': 10.59}, {'connected_gene': 'MRPS15', 'score': 0.37}]
chr1 GH01I036457 36457601 36459259 0.77 [{'connected_gene': 'OSCP1', 'score': 11.42}, {'connected_gene': 'LSM10', 'score': 10.47}, {'connected_gene': 'GC01P036455', 'score': 0.77}, {'connected_gene': 'MRPS15', 'score': 0.44}]
chr1 GH01I036474 36474818 36474896 0.22 [{'connected_gene': 'OSCP1', 'score': 11.33}, {'connected_gene': 'SNORA63C', 'score': 10.6}, {'connected_gene': 'CSF3R', 'score': 3.01}, {'connected_gene': 'MRPS15', 'score': 0.39}]