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
ENST00000273480 [[141457045, 141457358], [141462350, 141462398], [141464000, 141466402]] [[141457183, 141457358], [141462350, 141462398], [141464000, 141464119]]
ENST00000498828 [[141457090, 141457358], [141461485, 141461869]] None
ENST00000480908 [[141457118, 141457358], [141464000, 141464542]] [[141457183, 141457358], [141464000, 141464119]]
ENST00000393000 [[141457138, 141457351], [141462350, 141462398], [141464000, 141464544]] [[141457183, 141457351], [141462350, 141462398], [141464000, 141464057]]
ENST00000477012 [[141457145, 141457358], [141461485, 141461749], [141462350, 141462398], [141464000, 141464511]] [[141457183, 141457358], [141461485, 141461637]]
ENST00000477393 [[141457160, 141457351], [141461485, 141461749], [141462350, 141462398], [141464000, 141464359]] [[141457183, 141457351], [141461485, 141461524]]
ENST00000486377 [[141464683, 141464961], [141465096, 141465236]] None
NM_183237 [[141457050, 141457351], [141462350, 141462398], [141464000, 141465645]] [[141457183, 141457351], [141462350, 141462398], [141464000, 141464057]]
NR_037703 [[141457050, 141457351], [141461485, 141461749], [141462350, 141462398], [141464000, 141465645]] None
NM_001201370 [[141457050, 141457358], [141464000, 141465645]] [[141457183, 141457358], [141464000, 141464119]]
NM_014245 [[141457050, 141457358], [141462350, 141462398], [141464000, 141465645]] [[141457183, 141457358], [141462350, 141462398], [141464000, 141464119]]
NR_037702 [[141457050, 141457358], [141461485, 141461749], [141462350, 141462398], [141464000, 141465645]] None
Promoter
Chrom Start End Description
chr3 141457030 141457051 CAGE_peak_4_at_RNF7_5end
chr3 141457060 141457073 CAGE_peak_3_at_RNF7_5end
chr3 141457085 141457099 CAGE_peak_2_at_RNF7_5end
chr3 141457105 141457189 CAGE_peak_1_at_RNF7_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I233402 233402487 233402526 0.4 [{'connected_gene': 'SAG', 'score': 10.12}, {'connected_gene': 'SCARNA5', 'score': 9.8}, {'connected_gene': 'ATG16L1', 'score': 9.76}, {'connected_gene': 'GC02M233380', 'score': 0.34}, {'connected_gene': 'ENSG00000201013', 'score': 0.34}, {'connected_gene': 'DGKD', 'score': 0.25}, {'connected_gene': 'PIR59405', 'score': 0.22}]
chr3 GH03I141681 141681801 141682200 0.65 [{'connected_gene': 'RNF7', 'score': 11.71}, {'connected_gene': 'LOC646730', 'score': 0.34}, {'connected_gene': 'TPT1P3', 'score': 0.31}]
chr3 GH03I141736 141736964 141742920 2.34 [{'connected_gene': 'RNF7', 'score': 561.84}, {'connected_gene': 'RASA2', 'score': 14.48}, {'connected_gene': 'ATP1B3', 'score': 11.61}, {'connected_gene': 'ATP1B3-AS1', 'score': 10.99}, {'connected_gene': 'GRK7', 'score': 10.82}, {'connected_gene': 'RNU6-509P', 'score': 10.48}, {'connected_gene': 'ATR', 'score': 9.74}]
chr2 GH02I233360 233360343 233360546 0.4 [{'connected_gene': 'SAG', 'score': 11.26}, {'connected_gene': 'ATG16L1', 'score': 10.53}, {'connected_gene': 'SCARNA5', 'score': 10.31}, {'connected_gene': 'DGKD', 'score': 0.44}, {'connected_gene': 'GC02M233380', 'score': 0.37}, {'connected_gene': 'ENSG00000201013', 'score': 0.37}]
chr2 GH02I233279 233279581 233283427 0.56 [{'connected_gene': 'SAG', 'score': 11.42}, {'connected_gene': 'ATG16L1', 'score': 10.58}, {'connected_gene': 'USP40', 'score': 6.88}, {'connected_gene': 'SCARNA5', 'score': 0.44}, {'connected_gene': 'GC02P233278', 'score': 0.44}, {'connected_gene': 'GC02P233298', 'score': 0.44}, {'connected_gene': 'GC02P233276', 'score': 0.44}]
chr2 GH02I233339 233339201 233339600 0.43 [{'connected_gene': 'SAG', 'score': 11.16}, {'connected_gene': 'ATG16L1', 'score': 5.98}, {'connected_gene': 'ENSG00000259793', 'score': 0.39}]
chr3 GH03I141689 141689801 141691054 0.31 [{'connected_gene': 'RNF7', 'score': 11.89}, {'connected_gene': 'ATP1B3', 'score': 10.61}, {'connected_gene': 'GRK7', 'score': 10.39}, {'connected_gene': 'TPT1P3', 'score': 0.37}, {'connected_gene': 'LOC646730', 'score': 0.29}]
chr3 GH03I141685 141685954 141687498 0.95 [{'connected_gene': 'RNF7', 'score': 11.87}, {'connected_gene': 'ATP1B3', 'score': 10.61}, {'connected_gene': 'GRK7', 'score': 10.38}, {'connected_gene': 'TPT1P3', 'score': 0.34}, {'connected_gene': 'LOC646730', 'score': 0.31}]
chr3 GH03I141680 141680601 141681659 0.79 [{'connected_gene': 'RNF7', 'score': 11.71}, {'connected_gene': 'GRK7', 'score': 10.89}, {'connected_gene': 'LOC646730', 'score': 0.34}, {'connected_gene': 'TPT1P3', 'score': 0.31}]
chr3 GH03I141646 141646800 141647200 0.98 [{'connected_gene': 'RNF7', 'score': 12.31}, {'connected_gene': 'GRK7', 'score': 11.25}, {'connected_gene': 'LOC646730', 'score': 0.39}, {'connected_gene': 'GC03P141615', 'score': 0.29}]
chr3 GH03I141644 141644999 141645201 0.92 [{'connected_gene': 'RNF7', 'score': 12.31}, {'connected_gene': 'GRK7', 'score': 11.25}, {'connected_gene': 'LOC646730', 'score': 0.37}, {'connected_gene': 'GC03P141615', 'score': 0.29}]
chr3 GH03I141677 141677818 141677972 0.23 [{'connected_gene': 'RNF7', 'score': 11.95}, {'connected_gene': 'GRK7', 'score': 10.19}, {'connected_gene': 'ATP1B3', 'score': 4.81}, {'connected_gene': 'LOC646730', 'score': 0.37}, {'connected_gene': 'TPT1P3', 'score': 0.29}]
chr3 GH03I141860 141860621 141861968 1.15 [{'connected_gene': 'RNF7', 'score': 11.65}, {'connected_gene': 'GRK7', 'score': 10.86}, {'connected_gene': 'ATP1B3', 'score': 7.5}, {'connected_gene': 'GC03M141866', 'score': 0.77}, {'connected_gene': 'LOC105374134', 'score': 0.44}]
chr3 GH03I141933 141933705 141934468 0.38 [{'connected_gene': 'RNF7', 'score': 11.23}, {'connected_gene': 'GRK7', 'score': 10.32}, {'connected_gene': 'ATP1B3', 'score': 7.34}, {'connected_gene': 'ENSG00000279147', 'score': 0.77}, {'connected_gene': 'ATP1B3-AS1', 'score': 0.37}]
chr3 GH03I141859 141859319 141860098 0.43 [{'connected_gene': 'RNF7', 'score': 11.65}, {'connected_gene': 'GRK7', 'score': 11.5}, {'connected_gene': 'RNU6-509P', 'score': 10.81}, {'connected_gene': 'GC03M141866', 'score': 0.44}, {'connected_gene': 'LOC105374134', 'score': 0.44}]
chr3 GH03I141684 141684632 141685397 0.46 [{'connected_gene': 'RNF7', 'score': 11.62}, {'connected_gene': 'TPT1P3', 'score': 0.34}, {'connected_gene': 'LOC646730', 'score': 0.34}]
chr2 GH02I233307 233307831 233307890 0.5 [{'connected_gene': 'SAG', 'score': 550.77}, {'connected_gene': 'ENSG00000259793', 'score': 0.25}]
chr2 GH02I233321 233321542 233322576 0.31 [{'connected_gene': 'SAG', 'score': 13.86}, {'connected_gene': 'ENSG00000259793', 'score': 0.29}]
chr2 GH02I233311 233311334 233311697 0.48 [{'connected_gene': 'SAG', 'score': 19.09}, {'connected_gene': 'ENSG00000259793', 'score': 0.26}]
chr2 GH02I233330 233330927 233334164 1.09 [{'connected_gene': 'DGKD', 'score': 18.79}, {'connected_gene': 'ATG16L1', 'score': 18.18}, {'connected_gene': 'SAG', 'score': 11.96}, {'connected_gene': 'SCARNA6', 'score': 11.14}, {'connected_gene': 'SCARNA5', 'score': 10.51}, {'connected_gene': 'ENSG00000259793', 'score': 0.34}]
chr2 GH02I233384 233384123 233389471 1.79 [{'connected_gene': 'DGKD', 'score': 569.63}, {'connected_gene': 'ATG16L1', 'score': 16.91}, {'connected_gene': 'USP40', 'score': 14.65}, {'connected_gene': 'SAG', 'score': 10.63}, {'connected_gene': 'SCARNA5', 'score': 10.55}, {'connected_gene': 'SCARNA6', 'score': 10.38}, {'connected_gene': 'ENSG00000201013', 'score': 0.44}, {'connected_gene': 'GC02M233380', 'score': 0.44}, {'connected_gene': 'PIR59405', 'score': 0.19}]
chr2 GH02I233348 233348622 233360126 2.67 [{'connected_gene': 'DGKD', 'score': 559.72}, {'connected_gene': 'ENSG00000259793', 'score': 550.77}, {'connected_gene': 'ATG16L1', 'score': 17.27}, {'connected_gene': 'USP40', 'score': 11.67}, {'connected_gene': 'SAG', 'score': 11.27}, {'connected_gene': 'SCARNA5', 'score': 10.31}, {'connected_gene': 'GIGYF2', 'score': 9.94}, {'connected_gene': 'SCARNA6', 'score': 9.93}, {'connected_gene': 'INPP5D', 'score': 3.43}]
chr3 GH03I141863 141863327 141864706 0.45 [{'connected_gene': 'HMGN2P25', 'score': 550.77}, {'connected_gene': 'GC03M141866', 'score': 550.77}, {'connected_gene': 'RNF7', 'score': 11.43}, {'connected_gene': 'GRK7', 'score': 11.31}, {'connected_gene': 'ATP1B3', 'score': 9.83}, {'connected_gene': 'LOC105374134', 'score': 0.39}]
chr3 GH03I142723 142723399 142725618 1.98 [{'connected_gene': 'TRPC1', 'score': 556.2}, {'connected_gene': 'RNF7', 'score': 4.51}, {'connected_gene': 'GC03M142746', 'score': 0.34}]
chr3 GH03I142014 142014615 142014674 0.5 [{'connected_gene': 'TFDP2', 'score': 550.12}, {'connected_gene': 'GK5', 'score': 11.35}, {'connected_gene': 'RNU6-425P', 'score': 11.22}, {'connected_gene': 'RNF7', 'score': 10.08}, {'connected_gene': 'RPL19P6', 'score': 0.31}, {'connected_gene': 'PIR46950', 'score': 0.21}]
chr2 GH02I233433 233433294 233434923 0.51 [{'connected_gene': 'SCARNA5', 'score': 10.11}, {'connected_gene': 'ATG16L1', 'score': 10.08}, {'connected_gene': 'SAG', 'score': 9.67}, {'connected_gene': 'PIR59405', 'score': 0.31}, {'connected_gene': 'GC02M233380', 'score': 0.23}, {'connected_gene': 'ENSG00000201013', 'score': 0.23}, {'connected_gene': 'DGKD', 'score': 0.18}]
chr2 GH02I233399 233399295 233401061 0.89 [{'connected_gene': 'SCARNA5', 'score': 10.93}, {'connected_gene': 'ATG16L1', 'score': 10.89}, {'connected_gene': 'SAG', 'score': 10.17}, {'connected_gene': 'USP40', 'score': 8.5}, {'connected_gene': 'DGKD', 'score': 4.69}, {'connected_gene': 'ENSG00000201013', 'score': 0.34}, {'connected_gene': 'GC02M233380', 'score': 0.34}, {'connected_gene': 'PIR59405', 'score': 0.22}]
chr2 GH02I233412 233412597 233430949 1.64 [{'connected_gene': 'USP40', 'score': 30.4}, {'connected_gene': 'SAG', 'score': 12.64}, {'connected_gene': 'ATG16L1', 'score': 12.27}, {'connected_gene': 'DGKD', 'score': 10.67}, {'connected_gene': 'SCARNA6', 'score': 10.24}, {'connected_gene': 'SCARNA5', 'score': 10.11}, {'connected_gene': 'INPP5D', 'score': 9.87}, {'connected_gene': 'LOC105373929', 'score': 4.6}, {'connected_gene': 'PIR59405', 'score': 0.28}, {'connected_gene': 'ENSG00000201013', 'score': 0.26}, {'connected_gene': 'GC02M233380', 'score': 0.26}]
chr2 GH02I233363 233363428 233364235 0.46 [{'connected_gene': 'USP40', 'score': 13.41}, {'connected_gene': 'SAG', 'score': 11.26}, {'connected_gene': 'ATG16L1', 'score': 10.53}, {'connected_gene': 'SCARNA5', 'score': 10.3}, {'connected_gene': 'DGKD', 'score': 0.44}, {'connected_gene': 'GC02M233380', 'score': 0.37}, {'connected_gene': 'ENSG00000201013', 'score': 0.37}]
chr2 GH02I233440 233440837 233442019 0.2 [{'connected_gene': 'USP40', 'score': 16.4}, {'connected_gene': 'SCARNA5', 'score': 11.1}, {'connected_gene': 'ATG16L1', 'score': 11.07}, {'connected_gene': 'SAG', 'score': 10.65}, {'connected_gene': 'DGKD', 'score': 8.42}, {'connected_gene': 'PIR59405', 'score': 0.37}, {'connected_gene': 'ENSG00000201013', 'score': 0.21}, {'connected_gene': 'GC02M233380', 'score': 0.21}]
chr2 GH02I233480 233480046 233482085 0.63 [{'connected_gene': 'USP40', 'score': 15.96}, {'connected_gene': 'UGT1A4', 'score': 10.11}, {'connected_gene': 'SCARNA5', 'score': 9.53}, {'connected_gene': 'ATG16L1', 'score': 9.52}, {'connected_gene': 'SAG', 'score': 5.7}, {'connected_gene': 'PIR59405', 'score': 0.34}, {'connected_gene': 'LOC100422710', 'score': 0.21}]
chr2 GH02I233361 233360815 233361808 0.87 [{'connected_gene': 'ATG16L1', 'score': 16.62}, {'connected_gene': 'SAG', 'score': 11.26}, {'connected_gene': 'SCARNA5', 'score': 10.3}, {'connected_gene': 'DGKD', 'score': 0.44}, {'connected_gene': 'GC02M233380', 'score': 0.37}, {'connected_gene': 'ENSG00000201013', 'score': 0.37}]
chr2 GH02I233258 233258591 233261186 0.31 [{'connected_gene': 'ATG16L1', 'score': 14.17}, {'connected_gene': 'SAG', 'score': 6.39}, {'connected_gene': 'USP40', 'score': 5.22}, {'connected_gene': 'GC02P233277', 'score': 0.37}]
chr2 GH02I233266 233266329 233272461 0.89 [{'connected_gene': 'ATG16L1', 'score': 23.96}, {'connected_gene': 'SAG', 'score': 10.98}, {'connected_gene': 'KCNJ13', 'score': 10.03}, {'connected_gene': 'GIGYF2', 'score': 10.02}, {'connected_gene': 'GC02P233277', 'score': 0.44}]
chr2 GH02I233233 233233621 233235153 0.58 [{'connected_gene': 'ATG16L1', 'score': 11.61}, {'connected_gene': 'SAG', 'score': 10.11}, {'connected_gene': 'GC02P233277', 'score': 0.26}]
chr2 GH02I233473 233473016 233475236 0.46 [{'connected_gene': 'UGT1A4', 'score': 10.21}, {'connected_gene': 'USP40', 'score': 9.58}, {'connected_gene': 'SAG', 'score': 6.34}, {'connected_gene': 'PIR59405', 'score': 0.39}, {'connected_gene': 'LOC100422710', 'score': 0.19}]
chr3 GH03I141938 141938819 141943216 1.23 [{'connected_gene': 'XRN1', 'score': 15.43}, {'connected_gene': 'RNF7', 'score': 11.35}, {'connected_gene': 'RASA2', 'score': 9.77}, {'connected_gene': 'ATP1B3', 'score': 7.34}, {'connected_gene': 'GK5', 'score': 5.46}, {'connected_gene': 'ENSG00000279147', 'score': 0.77}, {'connected_gene': 'GC03M141945', 'score': 0.44}]
chr3 GH03I141795 141795247 141799227 1.14 [{'connected_gene': 'ATP1B3', 'score': 12.12}, {'connected_gene': 'RNF7', 'score': 11.7}, {'connected_gene': 'GRK7', 'score': 10.34}, {'connected_gene': 'RASA2', 'score': 2.9}, {'connected_gene': 'TFDP2', 'score': 1.95}, {'connected_gene': 'GK5', 'score': 1.16}, {'connected_gene': 'PIR31846', 'score': 0.37}, {'connected_gene': 'LOC105374134', 'score': 0.23}]
chr3 GH03I141848 141848986 141849913 0.95 [{'connected_gene': 'ATP1B3', 'score': 18.14}, {'connected_gene': 'RNF7', 'score': 16.67}, {'connected_gene': 'GRK7', 'score': 11.13}, {'connected_gene': 'GK5', 'score': 5.43}, {'connected_gene': 'LOC105374134', 'score': 0.77}, {'connected_gene': 'PIR31846', 'score': 0.2}]
chr3 GH03I141913 141913319 141913468 0.78 [{'connected_gene': 'ATP1B3', 'score': 20.63}, {'connected_gene': 'TRPC1', 'score': 12.53}, {'connected_gene': 'RNF7', 'score': 11.54}, {'connected_gene': 'GRK7', 'score': 10.89}, {'connected_gene': 'RNU6-425P', 'score': 9.95}, {'connected_gene': 'ATP1B3-AS1', 'score': 0.44}, {'connected_gene': 'GC03M141903', 'score': 0.39}, {'connected_gene': 'RNU6-509P', 'score': 0.39}]
chr3 GH03I141854 141854746 141854868 0.34 [{'connected_gene': 'ATP1B3', 'score': 15.5}, {'connected_gene': 'GRK7', 'score': 12.78}, {'connected_gene': 'RNF7', 'score': 11.17}, {'connected_gene': 'RNU6-509P', 'score': 11.01}, {'connected_gene': 'LOC105374134', 'score': 0.77}, {'connected_gene': 'GC03M141866', 'score': 0.39}]
chr2 GH02I232852 232852784 232854885 0.79 [{'connected_gene': 'NGEF', 'score': 17.32}, {'connected_gene': 'SNORC', 'score': 14.52}, {'connected_gene': 'INPP5D', 'score': 10.37}, {'connected_gene': 'LOC101928881', 'score': 10.1}, {'connected_gene': 'SAG', 'score': 8.88}, {'connected_gene': 'ATG16L1', 'score': 8.76}, {'connected_gene': 'SCARNA5', 'score': 8.76}, {'connected_gene': 'ENSG00000199781', 'score': 0.31}, {'connected_gene': 'GIGYF2', 'score': 0.1}]
chr3 GH03I141828 141828316 141831628 0.86 [{'connected_gene': 'GRK7', 'score': 16.73}, {'connected_gene': 'RNF7', 'score': 16.72}, {'connected_gene': 'ATP1B3', 'score': 12.03}, {'connected_gene': 'LOC105374134', 'score': 0.34}, {'connected_gene': 'PIR31846', 'score': 0.25}]
chr3 GH03I141852 141852802 141854000 0.62 [{'connected_gene': 'LOC105374134', 'score': 550.77}, {'connected_gene': 'ATP1B3', 'score': 17.38}, {'connected_gene': 'RNF7', 'score': 11.83}, {'connected_gene': 'GRK7', 'score': 11.7}, {'connected_gene': 'RNU6-509P', 'score': 11.01}, {'connected_gene': 'GC03M141866', 'score': 0.39}]
chr3 GH03I141851 141851539 141851688 0.31 [{'connected_gene': 'LOC105374134', 'score': 550.77}, {'connected_gene': 'ATP1B3', 'score': 12.4}, {'connected_gene': 'RNF7', 'score': 12.12}, {'connected_gene': 'GRK7', 'score': 11.12}, {'connected_gene': 'GC03M141866', 'score': 0.39}]
chr2 GH02I232650 232650827 232654296 0.93 [{'connected_gene': 'LOC105373929', 'score': 11.13}, {'connected_gene': 'GIGYF2', 'score': 11.13}, {'connected_gene': 'KCNJ13', 'score': 10.53}, {'connected_gene': 'ECEL1', 'score': 10.3}, {'connected_gene': 'SAG', 'score': 9.65}, {'connected_gene': 'EFHD1', 'score': 7.69}, {'connected_gene': 'RN7SL359P', 'score': 0.77}]
chr3 GH03I141600 141600343 141600638 0.27 [{'connected_gene': 'YWHAQP6', 'score': 550.77}, {'connected_gene': 'GC03M141600', 'score': 550.77}, {'connected_gene': 'RNF7', 'score': 11.51}, {'connected_gene': 'RASA2', 'score': 1.99}, {'connected_gene': 'GC03M141590', 'score': 0.77}, {'connected_gene': 'RASA2-IT1', 'score': 0.18}]
chr3 GH03I141894 141894899 141895068 0.69 [{'connected_gene': 'ATP1B3-AS1', 'score': 11.26}, {'connected_gene': 'GRK7', 'score': 10.85}, {'connected_gene': 'RNF7', 'score': 10.35}, {'connected_gene': 'GC03M141903', 'score': 0.44}, {'connected_gene': 'RNU6-509P', 'score': 0.44}, {'connected_gene': 'GC03P141887', 'score': 0.44}, {'connected_gene': 'ATP1B3', 'score': 0.37}]
chr3 GH03I141707 141707139 141712077 0.92 [{'connected_gene': 'TPT1P3', 'score': 550.77}, {'connected_gene': 'RNF7', 'score': 16.87}, {'connected_gene': 'GRK7', 'score': 6.08}, {'connected_gene': 'LOC646730', 'score': 0.25}]
chr3 GH03I141728 141728539 141728688 0.82 [{'connected_gene': 'ENSG00000241526', 'score': 0.77}, {'connected_gene': 'RNF7', 'score': 0.44}, {'connected_gene': 'LOC646730', 'score': 0.2}]
chr3 GH03I141937 141937241 141938772 0.38 [{'connected_gene': 'ENSG00000279147', 'score': 550.77}, {'connected_gene': 'RNF7', 'score': 11.35}, {'connected_gene': 'GRK7', 'score': 10.31}, {'connected_gene': 'ATP1B3-AS1', 'score': 0.37}]
chr2 GH02I233378 233378417 233382036 0.67 [{'connected_gene': 'GC02M233380', 'score': 550.77}, {'connected_gene': 'ENSG00000201013', 'score': 550.77}, {'connected_gene': 'DGKD', 'score': 20.17}, {'connected_gene': 'ATG16L1', 'score': 16.71}, {'connected_gene': 'SCARNA5', 'score': 11.04}, {'connected_gene': 'SAG', 'score': 10.15}, {'connected_gene': 'PIR59405', 'score': 0.18}]
chr2 GH02I233460 233460347 233461632 0.89 [{'connected_gene': 'PIR59405', 'score': 550.77}, {'connected_gene': 'USP40', 'score': 10.47}, {'connected_gene': 'DGKD', 'score': 5.72}, {'connected_gene': 'SAG', 'score': 4.91}, {'connected_gene': 'LOC100422710', 'score': 0.18}]

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