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
ENST00000309422 [[64002009, 64002365], [64002929, 64002972], [64003284, 64003481], [64003725, 64003799], [64004658, 64004694], [64004891, 64005127], [64005827, 64006259]] [[64002305, 64002365], [64002929, 64002972], [64003284, 64003481], [64003725, 64003799], [64004658, 64004694], [64004891, 64005105]]
ENST00000426086 [[64002291, 64002365], [64002929, 64002972], [64003284, 64003481], [64003725, 64003799], [64004658, 64004694], [64004992, 64005127], [64005827, 64006247]] [[64002305, 64002365], [64002929, 64002972], [64003284, 64003481], [64003725, 64003799], [64004658, 64004694], [64004992, 64005127], [64005827, 64005849]]
ENST00000543462 [[64004598, 64004694], [64004992, 64005127], [64005827, 64006259]] None
ENST00000541681 [[64005007, 64005127], [64005268, 64005373]] [[64005007, 64005105]]
NM_001243733 [[64002055, 64002365], [64002929, 64002972], [64003284, 64003481], [64003725, 64003799], [64004658, 64004694], [64004992, 64005127], [64005827, 64006736]] [[64002305, 64002365], [64002929, 64002972], [64003284, 64003481], [64003725, 64003799], [64004658, 64004694], [64004992, 64005127], [64005827, 64005849]]
NM_003377 [[64002055, 64002365], [64002929, 64002972], [64003284, 64003481], [64003725, 64003799], [64004658, 64004694], [64004891, 64005127], [64005827, 64006736]] [[64002305, 64002365], [64002929, 64002972], [64003284, 64003481], [64003725, 64003799], [64004658, 64004694], [64004891, 64005105]]
Promoter
Chrom Start End Description
chr11 64001962 64002033 CAGE_peak_2_at_VEGFB_5end
chr11 64002041 64002119 CAGE_peak_1_at_VEGFB_5end
chr11 64002306 64002317 CAGE_peak_5_at_VEGFB_5end
chr11 64002335 64002342 CAGE_peak_8_at_VEGFB_5end
chr11 64004888 64004909 CAGE_peak_3_at_VEGFB_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I064108 64108150 64110350 0.38 [{'connected_gene': 'TRPT1', 'score': 23.0}, {'connected_gene': 'VEGFB', 'score': 10.48}, {'connected_gene': 'CCDC88B', 'score': 8.43}, {'connected_gene': 'PIR46997', 'score': 0.44}, {'connected_gene': 'ENSG00000256481', 'score': 0.31}, {'connected_gene': 'MACROD1', 'score': 0.22}, {'connected_gene': 'FLRT1', 'score': 0.19}]
chr11 GH11I064093 64093372 64095726 1.24 [{'connected_gene': 'PLCB3', 'score': 17.24}, {'connected_gene': 'SF1', 'score': 16.07}, {'connected_gene': 'ENSG00000256341', 'score': 11.89}, {'connected_gene': 'ZFPL1', 'score': 10.37}, {'connected_gene': 'NAALADL1', 'score': 10.36}, {'connected_gene': 'TRPT1', 'score': 9.42}, {'connected_gene': 'VEGFB', 'score': 6.92}, {'connected_gene': 'NRXN2', 'score': 4.55}, {'connected_gene': 'FKBP2', 'score': 4.31}, {'connected_gene': 'ENSG00000256481', 'score': 0.39}, {'connected_gene': 'PIR46997', 'score': 0.34}, {'connected_gene': 'FLRT1', 'score': 0.22}, {'connected_gene': 'ENSG00000256824', 'score': 0.22}, {'connected_gene': 'MACROD1', 'score': 0.19}]
chr11 GH11I064097 64097753 64099253 0.79 [{'connected_gene': 'TRMT112', 'score': 14.36}, {'connected_gene': 'VEGFB', 'score': 9.07}, {'connected_gene': 'CCDC88B', 'score': 8.75}, {'connected_gene': 'ENSG00000256481', 'score': 0.37}, {'connected_gene': 'PIR46997', 'score': 0.37}, {'connected_gene': 'FLRT1', 'score': 0.21}, {'connected_gene': 'ENSG00000256824', 'score': 0.21}, {'connected_gene': 'MACROD1', 'score': 0.2}]
chr11 GH11I064237 64237035 64253602 2.32 [{'connected_gene': 'PPP1R14B', 'score': 572.68}, {'connected_gene': 'FKBP2', 'score': 550.77}, {'connected_gene': 'LOC105369340', 'score': 550.77}, {'connected_gene': 'PLCB3', 'score': 550.44}, {'connected_gene': 'TRPT1', 'score': 23.86}, {'connected_gene': 'LOC102723878', 'score': 22.35}, {'connected_gene': 'VEGFB', 'score': 19.71}, {'connected_gene': 'TRMT112', 'score': 17.45}, {'connected_gene': 'FERMT3', 'score': 12.7}, {'connected_gene': 'GPR137', 'score': 11.63}, {'connected_gene': 'BAD', 'score': 11.57}, {'connected_gene': 'ENSG00000257086', 'score': 6.66}, {'connected_gene': 'ENSG00000256116', 'score': 5.79}, {'connected_gene': 'FLRT1', 'score': 5.1}, {'connected_gene': 'PIR60417', 'score': 0.44}]
chr11 GH11I064036 64036000 64037109 1.37 [{'connected_gene': 'FLRT1', 'score': 550.77}, {'connected_gene': 'ENSG00000256824', 'score': 550.77}, {'connected_gene': 'VEGFB', 'score': 4.76}, {'connected_gene': 'PIR44183', 'score': 0.37}, {'connected_gene': 'MACROD1', 'score': 0.13}]
chr11 GH11I064074 64074832 64077281 0.46 [{'connected_gene': 'FLRT1', 'score': 11.95}, {'connected_gene': 'ENSG00000256341', 'score': 11.13}, {'connected_gene': 'VEGFB', 'score': 7.14}, {'connected_gene': 'ENSG00000257086', 'score': 6.48}, {'connected_gene': 'ENSG00000256481', 'score': 0.44}, {'connected_gene': 'PIR44183', 'score': 0.34}, {'connected_gene': 'ENSG00000256824', 'score': 0.26}, {'connected_gene': 'MACROD1', 'score': 0.16}]
chr11 GH11I064232 64232929 64232971 0.31 [{'connected_gene': 'PIR49361', 'score': 550.77}, {'connected_gene': 'VEGFB', 'score': 550.77}, {'connected_gene': 'ENSG00000256116', 'score': 550.77}, {'connected_gene': 'TRPT1', 'score': 17.64}, {'connected_gene': 'DNAJC4', 'score': 0.77}]
chr11 GH11I064233 64233001 64233200 0.38 [{'connected_gene': 'PIR49361', 'score': 550.77}, {'connected_gene': 'VEGFB', 'score': 550.77}, {'connected_gene': 'ENSG00000256116', 'score': 550.77}, {'connected_gene': 'TRPT1', 'score': 17.65}, {'connected_gene': 'DNAJC4', 'score': 0.77}]
chr11 GH11I064262 64262404 64264109 0.43 [{'connected_gene': 'GC11P064262', 'score': 550.77}, {'connected_gene': 'VEGFB', 'score': 17.12}, {'connected_gene': 'GPR137', 'score': 0.44}, {'connected_gene': 'PLCB3', 'score': 0.39}]
chr11 GH11I064234 64233545 64236245 2.1 [{'connected_gene': 'PIR49361', 'score': 550.77}, {'connected_gene': 'VEGFB', 'score': 550.77}, {'connected_gene': 'ENSG00000256116', 'score': 550.77}, {'connected_gene': 'DNAJC4', 'score': 0.77}, {'connected_gene': 'PIR60417', 'score': 0.77}]
chr11 GH11I064088 64088489 64088658 0.63 [{'connected_gene': 'ENSG00000256341', 'score': 11.75}, {'connected_gene': 'VEGFB', 'score': 4.78}, {'connected_gene': 'ENSG00000256481', 'score': 0.44}, {'connected_gene': 'PIR46997', 'score': 0.31}, {'connected_gene': 'FLRT1', 'score': 0.23}, {'connected_gene': 'ENSG00000256824', 'score': 0.23}, {'connected_gene': 'MACROD1', 'score': 0.18}]
chr11 GH11I064183 64183481 64187865 2.33 [{'connected_gene': 'GC11M064182', 'score': 550.77}, {'connected_gene': 'STIP1', 'score': 550.77}, {'connected_gene': 'TRPT1', 'score': 24.67}, {'connected_gene': 'ENSG00000257086', 'score': 21.53}, {'connected_gene': 'IMMP1LP1', 'score': 13.74}, {'connected_gene': 'FERMT3', 'score': 13.36}, {'connected_gene': 'SF1', 'score': 11.49}, {'connected_gene': 'C11orf95', 'score': 11.35}, {'connected_gene': 'ZNHIT2', 'score': 11.22}, {'connected_gene': 'PLCB3', 'score': 10.84}, {'connected_gene': 'ENSG00000256341', 'score': 10.34}, {'connected_gene': 'DNAJC4', 'score': 9.9}, {'connected_gene': 'NAA40', 'score': 9.75}, {'connected_gene': 'ZFPL1', 'score': 9.73}, {'connected_gene': 'VEGFB', 'score': 7.97}, {'connected_gene': 'ENSG00000256116', 'score': 5.65}, {'connected_gene': 'OTUB1', 'score': 2.03}, {'connected_gene': 'CCDC88B', 'score': 1.86}]