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
ENST00000353801 [[44214823, 44214932], [44216353, 44216513], [44217113, 44217320], [44217411, 44217571], [44217757, 44217891], [44218027, 44218336], [44218784, 44218950], [44219154, 44219345], [44219473, 44219621], [44219735, 44220004], [44220781, 44221115], [44221225, 44221620]] [[44216366, 44216513], [44217113, 44217320], [44217411, 44217571], [44217757, 44217891], [44218027, 44218336], [44218784, 44218950], [44219154, 44219345], [44219473, 44219621], [44219735, 44220004], [44220781, 44221115], [44221225, 44221335]]
ENST00000371646 [[44214823, 44214932], [44216366, 44216513], [44217113, 44217320], [44217411, 44217571], [44217757, 44217891], [44218027, 44218336], [44218784, 44218950], [44219154, 44219345], [44219473, 44219621], [44219735, 44220004], [44220781, 44221115], [44221225, 44221620]] [[44216366, 44216513], [44217113, 44217320], [44217411, 44217571], [44217757, 44217891], [44218027, 44218336], [44218784, 44218950], [44219154, 44219345], [44219473, 44219621], [44219735, 44220004], [44220781, 44221115], [44221225, 44221335]]
ENST00000371554 [[44215602, 44215816], [44216366, 44216513], [44217113, 44217320], [44217411, 44217571], [44217757, 44217891], [44218027, 44218336], [44218784, 44218950], [44219154, 44219345], [44219473, 44219621], [44219735, 44220004], [44220781, 44221115], [44221225, 44221620]] [[44216366, 44216513], [44217113, 44217320], [44217411, 44217571], [44217757, 44217891], [44218027, 44218336], [44218784, 44218950], [44219154, 44219345], [44219473, 44219621], [44219735, 44220004], [44220781, 44221115], [44221225, 44221335]]
NM_001271970 [[44213902, 44214081], [44216366, 44216513], [44217113, 44217320], [44217411, 44217571], [44217757, 44217891], [44218027, 44218336], [44218784, 44218950], [44219154, 44219345], [44219473, 44219621], [44219735, 44220004], [44220781, 44221115], [44221225, 44221625]] [[44216366, 44216513], [44217113, 44217320], [44217411, 44217571], [44217757, 44217891], [44218027, 44218336], [44218784, 44218950], [44219154, 44219345], [44219473, 44219621], [44219735, 44220004], [44220781, 44221115], [44221225, 44221335]]
NM_001271971 [[44214694, 44214932], [44216366, 44216513], [44217113, 44217188], [44217423, 44217571], [44217757, 44217891], [44218027, 44218336], [44218784, 44218950], [44219154, 44219345], [44219473, 44219621], [44219735, 44220004], [44220781, 44221115], [44221225, 44221625]] [[44216366, 44216513], [44217113, 44217188], [44217423, 44217571], [44217757, 44217891], [44218027, 44218336], [44218784, 44218950], [44219154, 44219345], [44219473, 44219621], [44219735, 44220004], [44220781, 44221115], [44221225, 44221335]]
NM_001271972 [[44214694, 44214932], [44216366, 44216513], [44217113, 44217320], [44217441, 44217571], [44217757, 44217891], [44218027, 44218336], [44218784, 44218950], [44219154, 44219345], [44219473, 44219621], [44219735, 44220004], [44220781, 44221115], [44221225, 44221625]] [[44216366, 44216513], [44217113, 44217320], [44217441, 44217571], [44217757, 44217891], [44218027, 44218336], [44218784, 44218950], [44219154, 44219345], [44219473, 44219621], [44219735, 44220004], [44220781, 44221115], [44221225, 44221335]]
NM_007355 [[44214694, 44214932], [44216366, 44216513], [44217113, 44217320], [44217411, 44217571], [44217757, 44217891], [44218027, 44218336], [44218784, 44218950], [44219154, 44219345], [44219473, 44219621], [44219735, 44220004], [44220781, 44221115], [44221225, 44221625]] [[44216366, 44216513], [44217113, 44217320], [44217411, 44217571], [44217757, 44217891], [44218027, 44218336], [44218784, 44218950], [44219154, 44219345], [44219473, 44219621], [44219735, 44220004], [44220781, 44221115], [44221225, 44221335]]
NM_001271969 [[44214694, 44214932], [44216353, 44216513], [44217113, 44217320], [44217411, 44217571], [44217757, 44217891], [44218027, 44218336], [44218784, 44218950], [44219154, 44219345], [44219473, 44219621], [44219735, 44220004], [44220781, 44221115], [44221225, 44221625]] [[44216366, 44216513], [44217113, 44217320], [44217411, 44217571], [44217757, 44217891], [44218027, 44218336], [44218784, 44218950], [44219154, 44219345], [44219473, 44219621], [44219735, 44220004], [44220781, 44221115], [44221225, 44221335]]
Promoter
Chrom Start End Description
chr6 44214833 44214841 CAGE_peak_1_at_HSP90AB1_5end
chr6 44215640 44215666 CAGE_peak_16_at_HSP90AB1_5end
chr6 44215668 44215690 CAGE_peak_13_at_HSP90AB1_5end
chr6 44217439 44217463 CAGE_peak_2_at_HSP90AB1_5end
chr6 44218018 44218055 CAGE_peak_5_at_HSP90AB1_5end
chr6 44218811 44218826 CAGE_peak_4_at_HSP90AB1_5end
chr6 44219488 44219531 CAGE_peak_3_at_HSP90AB1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I044094 44094004 44095812 0.93 [{'connected_gene': 'MRPL14', 'score': 31.26}, {'connected_gene': 'TMEM63B', 'score': 17.55}, {'connected_gene': 'CAPN11', 'score': 12.29}, {'connected_gene': 'VEGFA', 'score': 10.76}, {'connected_gene': 'AARS2', 'score': 10.75}, {'connected_gene': 'SLC29A1', 'score': 10.72}, {'connected_gene': 'HSP90AB1', 'score': 10.5}, {'connected_gene': 'SLC35B2', 'score': 10.38}, {'connected_gene': 'NFKBIE', 'score': 10.38}, {'connected_gene': 'TMEM151B', 'score': 10.29}, {'connected_gene': 'SPATS1', 'score': 9.7}, {'connected_gene': 'RPL29P16', 'score': 0.44}, {'connected_gene': 'PIR46189', 'score': 0.37}]
chr6 GH06I044114 44114113 44118674 1.21 [{'connected_gene': 'MRPL14', 'score': 21.74}, {'connected_gene': 'CAPN11', 'score': 12.05}, {'connected_gene': 'SLC29A1', 'score': 10.94}, {'connected_gene': 'HSP90AB1', 'score': 10.78}, {'connected_gene': 'TMEM63B', 'score': 10.7}, {'connected_gene': 'NFKBIE', 'score': 10.52}, {'connected_gene': 'SLC35B2', 'score': 10.41}, {'connected_gene': 'CRIP3', 'score': 5.38}, {'connected_gene': 'PIR46189', 'score': 0.44}]
chr6 GH06I044252 44250144 44250333 0.54 [{'connected_gene': 'AARS2', 'score': 11.06}, {'connected_gene': 'HSP90AB1', 'score': 0.77}, {'connected_gene': 'MIR4647', 'score': 0.77}]
chr6 GH06I044250 44250604 44250673 0.66 [{'connected_gene': 'AARS2', 'score': 11.06}, {'connected_gene': 'HSP90AB1', 'score': 0.77}, {'connected_gene': 'MIR4647', 'score': 0.77}]
chr6 GH06I044255 44255004 44266883 2.66 [{'connected_gene': 'SLC35B2', 'score': 562.82}, {'connected_gene': 'ABCC10', 'score': 51.59}, {'connected_gene': 'RPL34P14', 'score': 48.25}, {'connected_gene': 'ZNF318', 'score': 46.06}, {'connected_gene': 'AARS2', 'score': 36.43}, {'connected_gene': 'NFKBIE', 'score': 34.66}, {'connected_gene': 'RPS2P29', 'score': 32.58}, {'connected_gene': 'POLH', 'score': 28.89}, {'connected_gene': 'GTPBP2', 'score': 24.34}, {'connected_gene': 'POLR1C', 'score': 24.26}, {'connected_gene': 'XPO5', 'score': 20.39}, {'connected_gene': 'ENSG00000271970', 'score': 17.12}, {'connected_gene': 'TMEM151B', 'score': 16.14}, {'connected_gene': 'SLC29A1', 'score': 11.67}, {'connected_gene': 'CAPN11', 'score': 10.86}, {'connected_gene': 'YIPF3', 'score': 10.0}, {'connected_gene': 'HSP90AB1', 'score': 6.41}, {'connected_gene': 'SLC22A7', 'score': 5.68}]
chr6 GH06I044245 44245048 44250046 2.36 [{'connected_gene': 'HSP90AB1', 'score': 556.79}, {'connected_gene': 'ZNF318', 'score': 128.81}, {'connected_gene': 'POLH', 'score': 109.82}, {'connected_gene': 'GTPBP2', 'score': 104.43}, {'connected_gene': 'ABCC10', 'score': 87.01}, {'connected_gene': 'RPS2P29', 'score': 76.96}, {'connected_gene': 'POLR1C', 'score': 54.86}, {'connected_gene': 'AARS2', 'score': 41.52}, {'connected_gene': 'YIPF3', 'score': 31.99}, {'connected_gene': 'CDC5L', 'score': 31.95}, {'connected_gene': 'XPO5', 'score': 31.41}, {'connected_gene': 'RPL34P14', 'score': 21.46}, {'connected_gene': 'ENSG00000271970', 'score': 21.1}, {'connected_gene': 'SLC35B2', 'score': 19.44}, {'connected_gene': 'ENSG00000271754', 'score': 18.56}, {'connected_gene': 'MYMX', 'score': 12.77}, {'connected_gene': 'SLC29A1', 'score': 5.2}, {'connected_gene': 'MIR4647', 'score': 0.44}]
chr6 GH06I044104 44104198 44106047 0.78 [{'connected_gene': 'ZNF318', 'score': 49.74}, {'connected_gene': 'ENSG00000271970', 'score': 48.91}, {'connected_gene': 'ABCC10', 'score': 40.61}, {'connected_gene': 'AARS2', 'score': 39.17}, {'connected_gene': 'RPL34P14', 'score': 38.62}, {'connected_gene': 'POLR1C', 'score': 36.14}, {'connected_gene': 'SLC35B2', 'score': 28.94}, {'connected_gene': 'XPO5', 'score': 20.29}, {'connected_gene': 'MRPL14', 'score': 19.62}, {'connected_gene': 'CUL9', 'score': 13.0}, {'connected_gene': 'CAPN11', 'score': 12.15}, {'connected_gene': 'HSP90AB1', 'score': 10.97}, {'connected_gene': 'POLH-AS1', 'score': 10.9}, {'connected_gene': 'TMEM63B', 'score': 10.67}, {'connected_gene': 'TJAP1', 'score': 10.63}, {'connected_gene': 'NFKBIE', 'score': 10.56}, {'connected_gene': 'TMEM151B', 'score': 10.48}, {'connected_gene': 'SLC29A1', 'score': 10.42}, {'connected_gene': 'SPATS1', 'score': 10.03}, {'connected_gene': 'PIR46189', 'score': 0.44}, {'connected_gene': 'RPL29P16', 'score': 0.37}]
chr6 GH06I044251 44251884 44251953 0.38 [{'connected_gene': 'SLC29A1', 'score': 11.67}, {'connected_gene': 'AARS2', 'score': 10.73}, {'connected_gene': 'MIR4647', 'score': 0.77}, {'connected_gene': 'HSP90AB1', 'score': 0.44}]
chr6 GH06I044200 44200587 44204018 1.3 [{'connected_gene': 'SLC29A1', 'score': 38.34}, {'connected_gene': 'CAPN11', 'score': 21.84}, {'connected_gene': 'HSP90AB1', 'score': 11.5}, {'connected_gene': 'NFKBIE', 'score': 10.6}, {'connected_gene': 'TMEM151B', 'score': 10.59}, {'connected_gene': 'SLC35B2', 'score': 10.55}, {'connected_gene': 'MRPL14', 'score': 10.49}, {'connected_gene': 'TMEM63B', 'score': 10.48}, {'connected_gene': 'MYMX', 'score': 5.27}, {'connected_gene': 'RN7SL811P', 'score': 0.44}]
chr6 GH06I044096 44096824 44096973 0.85 [{'connected_gene': 'CAPN11', 'score': 12.29}, {'connected_gene': 'TMEM63B', 'score': 11.8}, {'connected_gene': 'MRPL14', 'score': 11.78}, {'connected_gene': 'VEGFA', 'score': 10.76}, {'connected_gene': 'AARS2', 'score': 10.75}, {'connected_gene': 'SLC29A1', 'score': 10.72}, {'connected_gene': 'HSP90AB1', 'score': 10.5}, {'connected_gene': 'NFKBIE', 'score': 10.38}, {'connected_gene': 'SLC35B2', 'score': 10.38}, {'connected_gene': 'TMEM151B', 'score': 10.29}, {'connected_gene': 'SPATS1', 'score': 9.7}, {'connected_gene': 'RPL29P16', 'score': 0.44}, {'connected_gene': 'PIR46189', 'score': 0.39}]
chr6 GH06I044206 44206801 44207000 0.76 [{'connected_gene': 'CAPN11', 'score': 11.73}, {'connected_gene': 'HSP90AB1', 'score': 11.51}, {'connected_gene': 'NFKBIE', 'score': 10.61}, {'connected_gene': 'TMEM151B', 'score': 10.6}, {'connected_gene': 'SLC35B2', 'score': 10.56}, {'connected_gene': 'MRPL14', 'score': 10.48}, {'connected_gene': 'TMEM63B', 'score': 10.47}, {'connected_gene': 'RN7SL811P', 'score': 0.77}, {'connected_gene': 'MYMX', 'score': 0.39}]
chr6 GH06I044204 44204124 44204273 0.82 [{'connected_gene': 'CAPN11', 'score': 11.73}, {'connected_gene': 'HSP90AB1', 'score': 11.5}, {'connected_gene': 'NFKBIE', 'score': 10.6}, {'connected_gene': 'TMEM151B', 'score': 10.59}, {'connected_gene': 'SLC35B2', 'score': 10.56}, {'connected_gene': 'TMEM63B', 'score': 10.48}, {'connected_gene': 'MRPL14', 'score': 10.48}, {'connected_gene': 'RN7SL811P', 'score': 0.44}, {'connected_gene': 'MYMX', 'score': 0.39}]
chr6 GH06I044258 44253544 44253753 0.75 [{'connected_gene': 'MIR4647', 'score': 550.77}, {'connected_gene': 'XPO5', 'score': 17.71}, {'connected_gene': 'POLH', 'score': 13.47}, {'connected_gene': 'ZNF318', 'score': 12.99}, {'connected_gene': 'POLR1C', 'score': 11.75}, {'connected_gene': 'SLC29A1', 'score': 11.67}, {'connected_gene': 'AARS2', 'score': 10.74}, {'connected_gene': 'CDC5L', 'score': 10.07}, {'connected_gene': 'RPS2P29', 'score': 9.69}, {'connected_gene': 'HSP90AB1', 'score': 0.44}]
chr6 GH06I044253 44253384 44253473 0.68 [{'connected_gene': 'MIR4647', 'score': 550.77}, {'connected_gene': 'XPO5', 'score': 17.71}, {'connected_gene': 'POLH', 'score': 13.47}, {'connected_gene': 'ZNF318', 'score': 12.99}, {'connected_gene': 'POLR1C', 'score': 11.75}, {'connected_gene': 'SLC29A1', 'score': 11.67}, {'connected_gene': 'AARS2', 'score': 10.74}, {'connected_gene': 'CDC5L', 'score': 10.07}, {'connected_gene': 'RPS2P29', 'score': 9.69}, {'connected_gene': 'HSP90AB1', 'score': 0.44}]
chr6 GH06I044236 44236719 44239089 1.79 [{'connected_gene': 'GC06P044236', 'score': 550.77}, {'connected_gene': 'NFKBIE', 'score': 14.94}, {'connected_gene': 'CAPN11', 'score': 11.41}, {'connected_gene': 'TMEM63B', 'score': 11.14}, {'connected_gene': 'MRPL14', 'score': 11.14}, {'connected_gene': 'AARS2', 'score': 10.62}, {'connected_gene': 'SPATS1', 'score': 10.26}, {'connected_gene': 'RPL34P14', 'score': 9.97}, {'connected_gene': 'HSP90AB1', 'score': 5.82}, {'connected_gene': 'SLC29A1', 'score': 5.44}, {'connected_gene': 'VEGFA', 'score': 1.27}]

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