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
ENST00000312475 [[89002706, 89003094], [89007933, 89008107], [89008817, 89009004], [89010380, 89010650]] [[89002843, 89003094], [89007933, 89008107], [89008817, 89009004], [89010380, 89010608]]
ENST00000558660 [[89002707, 89008107], [89008817, 89008978]] None
ENST00000559538 [[89002708, 89003094], [89003383, 89003613], [89007933, 89008044]] None
ENST00000560703 [[89002838, 89003094], [89007933, 89008107], [89010380, 89010620]] [[89008074, 89008107], [89010380, 89010608]]
ENST00000558531 [[89008243, 89009004], [89010380, 89010621]] None
NM_022163 [[89002708, 89003094], [89007933, 89008107], [89008817, 89009004], [89010380, 89010633]] [[89002843, 89003094], [89007933, 89008107], [89008817, 89009004], [89010380, 89010608]]
Promoter
Chrom Start End Description
chr15 89010607 89010633 CAGE_peak_1_at_MRPL46_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I088662 88662250 88662399 0.31 [{'connected_gene': 'AEN', 'score': 12.17}, {'connected_gene': 'MIR7-2', 'score': 10.58}, {'connected_gene': 'ENSG00000173867', 'score': 10.51}, {'connected_gene': 'MRPL46', 'score': 10.49}, {'connected_gene': 'MRPS11', 'score': 10.49}, {'connected_gene': 'ISG20', 'score': 0.31}, {'connected_gene': 'PIR50540', 'score': 0.29}]
chr15 GH15I088664 88664530 88664679 0.49 [{'connected_gene': 'AEN', 'score': 12.17}, {'connected_gene': 'MIR7-2', 'score': 10.58}, {'connected_gene': 'ENSG00000173867', 'score': 10.51}, {'connected_gene': 'MRPL46', 'score': 10.49}, {'connected_gene': 'MRPS11', 'score': 10.49}, {'connected_gene': 'ISG20', 'score': 0.31}, {'connected_gene': 'PIR50540', 'score': 0.29}]
chr15 GH15I088435 88435830 88435979 0.57 [{'connected_gene': 'POLG', 'score': 13.04}, {'connected_gene': 'MRPL46', 'score': 0.29}, {'connected_gene': 'LOC105370959', 'score': 0.16}]
chr15 GH15I088878 88878830 88878999 0.63 [{'connected_gene': 'MFGE8', 'score': 11.13}, {'connected_gene': 'AEN', 'score': 9.72}, {'connected_gene': 'ENSG00000173867', 'score': 9.12}, {'connected_gene': 'MRPL46', 'score': 9.11}, {'connected_gene': 'MRPS11', 'score': 9.11}, {'connected_gene': 'GC15M088846', 'score': 0.44}, {'connected_gene': 'GC15P088887', 'score': 0.44}, {'connected_gene': 'HAPLN3', 'score': 0.37}]
chr15 GH15I088571 88571461 88572659 0.56 [{'connected_gene': 'MIR7-2', 'score': 11.18}, {'connected_gene': 'AEN', 'score': 11.0}, {'connected_gene': 'ENSG00000173867', 'score': 9.8}, {'connected_gene': 'MRPL46', 'score': 9.74}, {'connected_gene': 'MRPS11', 'score': 9.74}, {'connected_gene': 'LINC01586', 'score': 4.52}, {'connected_gene': 'ENSG00000259569', 'score': 0.77}]
chr15 GH15I088659 88659186 88660345 0.78 [{'connected_gene': 'ISG20', 'score': 16.03}, {'connected_gene': 'AEN', 'score': 11.96}, {'connected_gene': 'ENSG00000173867', 'score': 10.7}, {'connected_gene': 'MRPS11', 'score': 10.67}, {'connected_gene': 'MRPL46', 'score': 10.67}, {'connected_gene': 'HAPLN3', 'score': 10.26}, {'connected_gene': 'ACAN', 'score': 5.06}, {'connected_gene': 'PIR50540', 'score': 0.28}]
chr15 GH15I088655 88655070 88658039 1.19 [{'connected_gene': 'ISG20', 'score': 27.59}, {'connected_gene': 'AEN', 'score': 12.63}, {'connected_gene': 'MIR7-2', 'score': 11.32}, {'connected_gene': 'ENSG00000173867', 'score': 10.7}, {'connected_gene': 'MRPS11', 'score': 10.67}, {'connected_gene': 'MRPL46', 'score': 10.67}, {'connected_gene': 'HAPLN3', 'score': 10.26}, {'connected_gene': 'PIR50540', 'score': 0.26}]
chr15 GH15I088462 88462922 88468717 2.1 [{'connected_gene': 'MRPL46', 'score': 550.77}, {'connected_gene': 'MRPS11', 'score': 550.77}, {'connected_gene': 'POLG', 'score': 33.75}, {'connected_gene': 'ENSG00000173867', 'score': 12.15}, {'connected_gene': 'AEN', 'score': 6.04}, {'connected_gene': 'LOC105370959', 'score': 0.13}]
chr15 GH15I088380 88380836 88386891 0.56 [{'connected_gene': 'MRPL46', 'score': 10.2}, {'connected_gene': 'MRPS11', 'score': 10.2}, {'connected_gene': 'ENSG00000173867', 'score': 10.15}, {'connected_gene': 'NTRK3', 'score': 6.5}, {'connected_gene': 'LOC105370959', 'score': 0.28}]
chr15 GH15I088246 88246701 88247498 0.97 [{'connected_gene': 'MRPL46', 'score': 9.15}, {'connected_gene': 'MRPS11', 'score': 9.15}, {'connected_gene': 'ENSG00000173867', 'score': 9.14}, {'connected_gene': 'NTRK3-AS1', 'score': 6.38}, {'connected_gene': 'NTRK3', 'score': 0.44}, {'connected_gene': 'MED28P6', 'score': 0.15}]
chr15 GH15I088393 88393993 88396967 0.63 [{'connected_gene': 'MRPL46', 'score': 9.84}, {'connected_gene': 'MRPS11', 'score': 9.84}, {'connected_gene': 'ENSG00000173867', 'score': 9.77}, {'connected_gene': 'LOC105370959', 'score': 0.23}]
chr15 GH15I088388 88388810 88388959 0.92 [{'connected_gene': 'MRPL46', 'score': 9.97}, {'connected_gene': 'MRPS11', 'score': 9.97}, {'connected_gene': 'ENSG00000173867', 'score': 9.91}, {'connected_gene': 'LOC105370959', 'score': 0.26}]
chr15 GH15I088454 88454733 88455891 0.92 [{'connected_gene': 'MRPL46', 'score': 0.39}, {'connected_gene': 'LOC105370959', 'score': 0.14}]
chr15 GH15I088450 88450310 88450459 0.75 [{'connected_gene': 'MRPL46', 'score': 0.37}, {'connected_gene': 'LOC105370959', 'score': 0.14}]
chr15 GH15I088810 88810050 88811777 0.43 [{'connected_gene': 'LOC105370960', 'score': 11.44}, {'connected_gene': 'HAPLN3', 'score': 10.31}, {'connected_gene': 'AEN', 'score': 9.83}, {'connected_gene': 'ENSG00000173867', 'score': 9.08}, {'connected_gene': 'MRPL46', 'score': 9.07}, {'connected_gene': 'MRPS11', 'score': 9.07}, {'connected_gene': 'GC15M088815', 'score': 0.44}, {'connected_gene': 'ACAN', 'score': 0.44}]
chr15 GH15I088400 88400172 88403260 1.54 [{'connected_gene': 'LOC105370959', 'score': 0.22}, {'connected_gene': 'MRPL46', 'score': 0.2}]
chr15 GH15I088374 88374836 88376779 1.03 [{'connected_gene': 'LOC105370959', 'score': 0.29}, {'connected_gene': 'MRPL46', 'score': 0.16}]
chr15 GH15I088397 88397345 88398515 0.2 [{'connected_gene': 'LOC105370959', 'score': 0.23}, {'connected_gene': 'MRPL46', 'score': 0.2}]

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