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
ENST00000311148 [[74003817, 74004582], [74008196, 74008399], [74009753, 74010498]] [[74004125, 74004582], [74008196, 74008399], [74009753, 74010359]]
ENST00000557556 [[74004097, 74004582], [74008196, 74008399], [74009831, 74010414]] [[74004125, 74004582], [74008196, 74008399], [74009831, 74010359]]
NM_001037161 [[74003927, 74004582], [74008196, 74008399], [74009753, 74010498]] [[74004125, 74004582], [74008196, 74008399], [74009753, 74010359]]
Promoter
Chrom Start End Description
chr14 74003840 74003852 CAGE_peak_1_at_ACOT1_5end
chr14 74003991 74004001 CAGE_peak_4_at_ACOT1_5end
chr14 74004017 74004036 CAGE_peak_2_at_ACOT1_5end
chr14 74004051 74004070 CAGE_peak_5_at_ACOT1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I073638 73638964 73640726 0.49 [{'connected_gene': 'PNMA1', 'score': 21.87}, {'connected_gene': 'ELMSAN1', 'score': 7.61}, {'connected_gene': 'ACOT1', 'score': 5.35}, {'connected_gene': 'DNAL1', 'score': 0.44}, {'connected_gene': 'ENSG00000258603', 'score': 0.44}]
chr14 GH14I073661 73661293 73663198 1.02 [{'connected_gene': 'PNMA1', 'score': 22.62}, {'connected_gene': 'ACOT1', 'score': 5.58}, {'connected_gene': 'RNU6-240P', 'score': 0.77}, {'connected_gene': 'DNAL1', 'score': 0.37}, {'connected_gene': 'ENSG00000258660', 'score': 0.28}]
chr14 GH14I073738 73738379 73748160 1.66 [{'connected_gene': 'PNMA1', 'score': 20.84}, {'connected_gene': 'LOC100506476', 'score': 11.52}, {'connected_gene': 'PTGR2', 'score': 10.7}, {'connected_gene': 'ENSG00000223300', 'score': 10.69}, {'connected_gene': 'ELMSAN1', 'score': 9.22}, {'connected_gene': 'ACOT1', 'score': 8.49}, {'connected_gene': 'ZNF410', 'score': 1.88}, {'connected_gene': 'GC14P073756', 'score': 0.39}]
chr14 GH14I073722 73722583 73731427 1.39 [{'connected_gene': 'ELMSAN1', 'score': 19.28}, {'connected_gene': 'RBM25', 'score': 13.58}, {'connected_gene': 'ZNF410', 'score': 12.35}, {'connected_gene': 'ENSG00000258559', 'score': 11.28}, {'connected_gene': 'PNMA1', 'score': 10.74}, {'connected_gene': 'ENSG00000258891', 'score': 10.35}, {'connected_gene': 'ACOT1', 'score': 8.16}, {'connected_gene': 'LOC100506476', 'score': 7.14}, {'connected_gene': 'DNAL1', 'score': 6.91}, {'connected_gene': 'ENSG00000258695', 'score': 6.3}, {'connected_gene': 'GC14P073756', 'score': 0.31}]
chr14 GH14I073748 73748908 73766343 2.62 [{'connected_gene': 'ELMSAN1', 'score': 597.03}, {'connected_gene': 'GC14P073756', 'score': 550.77}, {'connected_gene': 'MIR4505', 'score': 550.77}, {'connected_gene': 'ZNF410', 'score': 33.38}, {'connected_gene': 'PNMA1', 'score': 24.22}, {'connected_gene': 'RBM25', 'score': 16.17}, {'connected_gene': 'LOC100506476', 'score': 15.43}, {'connected_gene': 'NUMB', 'score': 11.82}, {'connected_gene': 'FCF1', 'score': 11.53}, {'connected_gene': 'PTGR2', 'score': 11.4}, {'connected_gene': 'ENSG00000223300', 'score': 11.39}, {'connected_gene': 'LOC100420966', 'score': 10.28}, {'connected_gene': 'DCAF4', 'score': 9.86}, {'connected_gene': 'DNAL1', 'score': 8.41}, {'connected_gene': 'ACOT1', 'score': 8.34}, {'connected_gene': 'ENSG00000258944', 'score': 5.79}, {'connected_gene': 'NT5CP2', 'score': 4.68}, {'connected_gene': 'RIOX1', 'score': 3.99}, {'connected_gene': 'COQ6', 'score': 2.29}, {'connected_gene': 'GC14M073765', 'score': 0.37}]
chr14 GH14I073456 73456412 73464264 2.29 [{'connected_gene': 'NUMB', 'score': 556.13}, {'connected_gene': 'ZNF410', 'score': 31.22}, {'connected_gene': 'ELMSAN1', 'score': 20.31}, {'connected_gene': 'LOC100420966', 'score': 18.69}, {'connected_gene': 'DCAF4', 'score': 17.94}, {'connected_gene': 'NT5CP1', 'score': 12.38}, {'connected_gene': 'ENSG00000258891', 'score': 12.35}, {'connected_gene': 'ENSG00000258695', 'score': 12.11}, {'connected_gene': 'ENSG00000258944', 'score': 11.62}, {'connected_gene': 'RBM25', 'score': 10.9}, {'connected_gene': 'ACOT1', 'score': 10.76}, {'connected_gene': 'LOC101928143', 'score': 0.77}, {'connected_gene': 'GC14M073418', 'score': 0.77}, {'connected_gene': 'ENSG00000251393', 'score': 0.77}, {'connected_gene': 'GC14P073395', 'score': 0.2}]
chr14 GH14I073464 73464488 73469912 1.38 [{'connected_gene': 'NUMB', 'score': 38.65}, {'connected_gene': 'PSEN1', 'score': 23.63}, {'connected_gene': 'ACOT1', 'score': 12.1}, {'connected_gene': 'HEATR4', 'score': 6.21}, {'connected_gene': 'LOC101928123', 'score': 5.02}, {'connected_gene': 'ENSG00000258695', 'score': 4.85}, {'connected_gene': 'DCAF4', 'score': 4.7}, {'connected_gene': 'ZNF410', 'score': 4.1}, {'connected_gene': 'ZFYVE1', 'score': 3.21}, {'connected_gene': 'RBM25', 'score': 2.18}, {'connected_gene': 'ELMSAN1', 'score': 2.17}, {'connected_gene': 'GC14M073418', 'score': 0.77}, {'connected_gene': 'ENSG00000251393', 'score': 0.77}, {'connected_gene': 'RIOX1', 'score': 0.34}]
chr14 GH14I073326 73326563 73327319 0.31 [{'connected_gene': 'NUMB', 'score': 10.84}, {'connected_gene': 'RNU6-419P', 'score': 10.8}, {'connected_gene': 'ENSG00000251393', 'score': 9.82}, {'connected_gene': 'ACOT1', 'score': 9.71}, {'connected_gene': 'ENSG00000258944', 'score': 0.23}, {'connected_gene': 'GC14P073395', 'score': 0.2}]
chr14 GH14I072859 72859508 72860072 0.2 [{'connected_gene': 'DPF3', 'score': 11.02}, {'connected_gene': 'ACOT1', 'score': 4.82}, {'connected_gene': 'ENSG00000206751', 'score': 0.44}, {'connected_gene': 'GC14M072854', 'score': 0.44}]
chr14 GH14I073731 73731725 73732608 0.2 [{'connected_gene': 'ACOT1', 'score': 8.62}, {'connected_gene': 'PNMA1', 'score': 0.37}, {'connected_gene': 'GC14P073756', 'score': 0.34}, {'connected_gene': 'ELMSAN1', 'score': 0.22}]
chr14 GH14I073476 73476193 73476998 0.38 [{'connected_gene': 'ACOT1', 'score': 10.87}, {'connected_gene': 'NUMB', 'score': 10.22}, {'connected_gene': 'HEATR4', 'score': 6.63}, {'connected_gene': 'RIOX1', 'score': 0.39}, {'connected_gene': 'GC14M073418', 'score': 0.39}, {'connected_gene': 'ENSG00000251393', 'score': 0.39}]
chr14 GH14I073490 73490136 73492665 2.04 [{'connected_gene': 'ACOT1', 'score': 566.02}, {'connected_gene': 'RIOX1', 'score': 550.77}, {'connected_gene': 'GC14P073495', 'score': 550.77}, {'connected_gene': 'PIR46009', 'score': 550.77}, {'connected_gene': 'ENSG00000258695', 'score': 6.65}, {'connected_gene': 'NUMB', 'score': 4.52}, {'connected_gene': 'HEATR4', 'score': 0.2}]
chr14 GH14I073472 73472001 73472401 0.97 [{'connected_gene': 'ACOT1', 'score': 11.12}, {'connected_gene': 'GC14M073418', 'score': 0.44}, {'connected_gene': 'ENSG00000251393', 'score': 0.44}, {'connected_gene': 'RIOX1', 'score': 0.37}]
chr14 GH14I073525 73525504 73527306 0.74 [{'connected_gene': 'ACOT1', 'score': 15.51}, {'connected_gene': 'NT5CP2', 'score': 9.52}, {'connected_gene': 'PNMA1', 'score': 9.39}, {'connected_gene': 'HEATR4', 'score': 5.42}, {'connected_gene': 'ACOT2', 'score': 4.97}, {'connected_gene': 'ENSG00000258695', 'score': 0.77}, {'connected_gene': 'GC14M073540', 'score': 0.39}]
chr14 GH14I073536 73536360 73539837 2.1 [{'connected_gene': 'ACOT1', 'score': 558.57}, {'connected_gene': 'NT5CP2', 'score': 550.77}, {'connected_gene': 'GC14M073540', 'score': 550.77}, {'connected_gene': 'ACOT2', 'score': 7.12}, {'connected_gene': 'BBOF1', 'score': 5.57}, {'connected_gene': 'ENSG00000258695', 'score': 0.37}, {'connected_gene': 'HEATR4', 'score': 0.34}]
chr14 GH14I073717 73717291 73720201 1.14 [{'connected_gene': 'RBM25', 'score': 43.2}, {'connected_gene': 'ENSG00000258559', 'score': 42.18}, {'connected_gene': 'NT5CP1', 'score': 16.74}, {'connected_gene': 'DNAL1', 'score': 13.02}, {'connected_gene': 'ABCD4', 'score': 11.83}, {'connected_gene': 'PNMA1', 'score': 11.12}, {'connected_gene': 'ZNF410', 'score': 10.97}, {'connected_gene': 'ELMSAN1', 'score': 10.38}, {'connected_gene': 'LOC100506476', 'score': 9.11}, {'connected_gene': 'ACOT1', 'score': 7.9}, {'connected_gene': 'NT5CP2', 'score': 6.5}, {'connected_gene': 'GC14P073756', 'score': 0.28}]
chr14 GH14I073057 73057146 73060102 2.08 [{'connected_gene': 'RBM25', 'score': 581.03}, {'connected_gene': 'LOC105370560', 'score': 550.77}, {'connected_gene': 'ZNF410', 'score': 30.49}, {'connected_gene': 'ELMSAN1', 'score': 27.93}, {'connected_gene': 'LOC101928123', 'score': 21.36}, {'connected_gene': 'NUMB', 'score': 20.78}, {'connected_gene': 'LOC100420966', 'score': 19.92}, {'connected_gene': 'ZFYVE1', 'score': 11.26}, {'connected_gene': 'PAPLN', 'score': 9.67}, {'connected_gene': 'DCAF4', 'score': 9.26}, {'connected_gene': 'PSEN1', 'score': 8.62}, {'connected_gene': 'ACOT1', 'score': 5.11}]
chr14 GH14I073135 73135818 73138240 1.98 [{'connected_gene': 'PSEN1', 'score': 550.77}, {'connected_gene': 'RBM25', 'score': 39.0}, {'connected_gene': 'ELMSAN1', 'score': 24.43}, {'connected_gene': 'LOC101928123', 'score': 18.13}, {'connected_gene': 'PNMA1', 'score': 16.56}, {'connected_gene': 'ENSG00000258891', 'score': 15.26}, {'connected_gene': 'DNAL1', 'score': 15.16}, {'connected_gene': 'LIN52', 'score': 13.69}, {'connected_gene': 'ZNF410', 'score': 11.99}, {'connected_gene': 'ENSG00000258443', 'score': 11.91}, {'connected_gene': 'PAPLN', 'score': 10.58}, {'connected_gene': 'ENSG00000258695', 'score': 9.8}, {'connected_gene': 'ZFYVE1', 'score': 9.74}, {'connected_gene': 'DCAF4', 'score': 8.76}, {'connected_gene': 'ACOT1', 'score': 3.99}, {'connected_gene': 'ENSG00000259109', 'score': 0.23}]
chr14 GH14I073591 73591401 73592646 1.79 [{'connected_gene': 'ACOT4', 'score': 566.78}, {'connected_gene': 'PIR31448', 'score': 550.77}, {'connected_gene': 'DCAF4', 'score': 9.86}, {'connected_gene': 'NUMB', 'score': 9.86}, {'connected_gene': 'LOC100506476', 'score': 8.04}, {'connected_gene': 'ACOT1', 'score': 6.15}, {'connected_gene': 'DNAL1', 'score': 4.57}, {'connected_gene': 'ACOT6', 'score': 0.37}]
chr14 GH14I073567 73567081 73570832 2 [{'connected_gene': 'ACOT2', 'score': 556.04}, {'connected_gene': 'GC14M073564', 'score': 550.77}, {'connected_gene': 'GC14M073568', 'score': 550.77}, {'connected_gene': 'ACOT1', 'score': 16.19}, {'connected_gene': 'ENSG00000258695', 'score': 10.29}, {'connected_gene': 'DCAF4', 'score': 9.87}, {'connected_gene': 'LOC100506476', 'score': 9.59}, {'connected_gene': 'DNAL1', 'score': 5.07}]
chr14 GH14I073209 73209692 73210702 0.43 [{'connected_gene': 'RNU6-419P', 'score': 11.86}, {'connected_gene': 'PAPLN', 'score': 11.8}, {'connected_gene': 'ACOT1', 'score': 4.49}, {'connected_gene': 'GC14P073223', 'score': 0.39}, {'connected_gene': 'ENSG00000259109', 'score': 0.34}, {'connected_gene': 'PSEN1', 'score': 0.19}]
chr14 GH14I073782 73782479 73791687 2.28 [{'connected_gene': 'LOC100506476', 'score': 606.16}, {'connected_gene': 'ELMSAN1', 'score': 578.12}, {'connected_gene': 'GC14P073786', 'score': 550.77}, {'connected_gene': 'ZNF410', 'score': 33.85}, {'connected_gene': 'RBM25', 'score': 30.69}, {'connected_gene': 'PTGR2', 'score': 24.06}, {'connected_gene': 'LOC100420966', 'score': 20.75}, {'connected_gene': 'DCAF4', 'score': 17.18}, {'connected_gene': 'YLPM1', 'score': 13.42}, {'connected_gene': 'ENSG00000258559', 'score': 12.49}, {'connected_gene': 'NUMB', 'score': 12.25}, {'connected_gene': 'ABCD4', 'score': 11.97}, {'connected_gene': 'FCF1', 'score': 11.16}, {'connected_gene': 'ENSG00000223300', 'score': 10.51}, {'connected_gene': 'LIN52', 'score': 8.28}, {'connected_gene': 'ACOT1', 'score': 5.19}, {'connected_gene': 'BBOF1', 'score': 4.17}, {'connected_gene': 'GC14P073784', 'score': 0.77}]
chr14 GH14I073736 73736492 73737673 0.2 [{'connected_gene': 'LOC100506476', 'score': 11.36}, {'connected_gene': 'DNAL1', 'score': 10.6}, {'connected_gene': 'PNMA1', 'score': 8.27}, {'connected_gene': 'ACOT1', 'score': 7.96}, {'connected_gene': 'GC14P073756', 'score': 0.37}, {'connected_gene': 'ELMSAN1', 'score': 0.23}]
chr14 GH14I073700 73700086 73703080 0.49 [{'connected_gene': 'ENSG00000258660', 'score': 550.77}, {'connected_gene': 'DNAL1', 'score': 13.23}, {'connected_gene': 'PNMA1', 'score': 12.21}, {'connected_gene': 'ACOT1', 'score': 7.77}, {'connected_gene': 'GC14P073713', 'score': 0.39}]
chr14 GH14I073414 73414342 73415818 0.82 [{'connected_gene': 'ENSG00000258944', 'score': 14.08}, {'connected_gene': 'ACOT1', 'score': 8.44}, {'connected_gene': 'DNAL1', 'score': 6.57}, {'connected_gene': 'NT5CP2', 'score': 5.97}, {'connected_gene': 'NUMB', 'score': 4.86}, {'connected_gene': 'FAM161B', 'score': 4.18}, {'connected_gene': 'GC14P073395', 'score': 0.37}, {'connected_gene': 'ENSG00000251393', 'score': 0.25}]
chr14 GH14I073507 73507237 73507657 0.2 [{'connected_gene': 'ENSG00000258695', 'score': 5.43}, {'connected_gene': 'GC14P073510', 'score': 0.77}, {'connected_gene': 'ACOT1', 'score': 0.39}, {'connected_gene': 'HEATR4', 'score': 0.23}]
chr14 GH14I073767 73767602 73775476 1.72 [{'connected_gene': 'ENSG00000258559', 'score': 50.22}, {'connected_gene': 'YLPM1', 'score': 47.91}, {'connected_gene': 'RBM25', 'score': 33.53}, {'connected_gene': 'NT5CP1', 'score': 32.66}, {'connected_gene': 'PNMA1', 'score': 21.3}, {'connected_gene': 'PTGR2', 'score': 16.45}, {'connected_gene': 'LOC100506476', 'score': 15.43}, {'connected_gene': 'LIN52', 'score': 14.46}, {'connected_gene': 'DNAL1', 'score': 12.33}, {'connected_gene': 'ABCD4', 'score': 11.82}, {'connected_gene': 'ENSG00000223300', 'score': 11.03}, {'connected_gene': 'ENSG00000258443', 'score': 10.02}, {'connected_gene': 'FAM161B', 'score': 9.96}, {'connected_gene': 'ELMSAN1', 'score': 8.92}, {'connected_gene': 'LINC02274', 'score': 8.49}, {'connected_gene': 'ACOT1', 'score': 5.12}, {'connected_gene': 'ENTPD5', 'score': 4.46}, {'connected_gene': 'RIOX1', 'score': 3.09}, {'connected_gene': 'ZNF410', 'score': 2.27}, {'connected_gene': 'COQ6', 'score': 1.93}, {'connected_gene': 'GC14M073765', 'score': 0.44}, {'connected_gene': 'MIR4505', 'score': 0.39}]
chr14 GH14I073570 73570857 73571046 0.68 [{'connected_gene': 'GC14M073568', 'score': 550.77}, {'connected_gene': 'NT5CP1', 'score': 550.77}, {'connected_gene': 'ACOT1', 'score': 35.51}, {'connected_gene': 'ACOT2', 'score': 0.77}]

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