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
ENST00000380149 [[7999217, 8000124], [8006640, 8006811], [8007432, 8007533], [8011785, 8011907], [8012491, 8012661], [8013233, 8013320], [8013409, 8013613], [8013702, 8013846], [8014676, 8014849], [8015410, 8015514], [8017801, 8017927], [8018255, 8018375], [8018924, 8019006], [8020093, 8020298], [8021161, 8021807]] [[7999944, 8000124], [8006640, 8006811], [8007432, 8007533], [8011785, 8011907], [8012491, 8012661], [8013233, 8013320], [8013409, 8013613], [8013702, 8013846], [8014676, 8014849], [8015410, 8015514], [8017801, 8017927], [8018255, 8018375], [8018924, 8019006], [8020093, 8020298], [8021161, 8021776]]
ENST00000448843 [[7999218, 8000124], [8006640, 8006811], [8007432, 8007533], [8011785, 8011907], [8012491, 8012661], [8013233, 8013320], [8013409, 8013613], [8013702, 8013846], [8014676, 8014849], [8015410, 8015514], [8017801, 8017927], [8018255, 8018375], [8018924, 8019006], [8020093, 8020298], [8021161, 8021621], [8021803, 8021831]] [[7999944, 8000124], [8006640, 8006811], [8007432, 8007533], [8011785, 8011907], [8012491, 8012661], [8013233, 8013320], [8013409, 8013613], [8013702, 8013846], [8014676, 8014849], [8015410, 8015514], [8017801, 8017927], [8018255, 8018375], [8018924, 8019006], [8020093, 8020298], [8021161, 8021308]]
ENST00000583808 [[7999566, 8000124], [8006640, 8006833]] None
ENST00000318227 [[7999692, 8000124], [8006640, 8006811], [8007432, 8007533], [8011785, 8011907], [8012491, 8012661], [8013233, 8013320], [8013409, 8013613], [8013702, 8013846], [8014676, 8014849], [8015410, 8015514], [8017801, 8017927], [8018255, 8018375], [8018924, 8019006], [8020093, 8020298], [8021161, 8021621], [8022013, 8022365]] [[7999944, 8000124], [8006640, 8006811], [8007432, 8007533], [8011785, 8011907], [8012491, 8012661], [8013233, 8013320], [8013409, 8013613], [8013702, 8013846], [8014676, 8014849], [8015410, 8015514], [8017801, 8017927], [8018255, 8018375], [8018924, 8019006], [8020093, 8020298], [8021161, 8021621], [8022013, 8022096]]
NM_021628 [[7999217, 8000124], [8006640, 8006811], [8007432, 8007533], [8011785, 8011907], [8012491, 8012661], [8013233, 8013320], [8013409, 8013613], [8013702, 8013846], [8014676, 8014849], [8015410, 8015514], [8017801, 8017927], [8018255, 8018375], [8018924, 8019006], [8020093, 8020298], [8021161, 8021621], [8021803, 8021860]] [[7999944, 8000124], [8006640, 8006811], [8007432, 8007533], [8011785, 8011907], [8012491, 8012661], [8013233, 8013320], [8013409, 8013613], [8013702, 8013846], [8014676, 8014849], [8015410, 8015514], [8017801, 8017927], [8018255, 8018375], [8018924, 8019006], [8020093, 8020298], [8021161, 8021308]]
NM_001165960 [[7999217, 8000124], [8006640, 8006811], [8007432, 8007533], [8011785, 8011907], [8012491, 8012661], [8013233, 8013320], [8013409, 8013613], [8013702, 8013846], [8014676, 8014849], [8015410, 8015514], [8017801, 8017927], [8018255, 8018375], [8018924, 8019006], [8020093, 8020298], [8021161, 8021621], [8022013, 8022234]] [[7999944, 8000124], [8006640, 8006811], [8007432, 8007533], [8011785, 8011907], [8012491, 8012661], [8013233, 8013320], [8013409, 8013613], [8013702, 8013846], [8014676, 8014849], [8015410, 8015514], [8017801, 8017927], [8018255, 8018375], [8018924, 8019006], [8020093, 8020298], [8021161, 8021621], [8022013, 8022096]]
Promoter
Chrom Start End Description
chr17 8021710 8021722 CAGE_peak_5_at_ALOXE3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I008117 8117442 8125092 2.33 [{'connected_gene': 'HES7', 'score': 571.1}, {'connected_gene': 'ALOXE3', 'score': 555.55}, {'connected_gene': 'TRL-TAG1-1', 'score': 550.77}, {'connected_gene': 'GC17M008514', 'score': 550.77}, {'connected_gene': 'TRQ-CTG1-5', 'score': 550.77}, {'connected_gene': 'TRR-TCT2-1', 'score': 550.77}, {'connected_gene': 'NEURL4', 'score': 67.33}, {'connected_gene': 'SENP3', 'score': 48.75}, {'connected_gene': 'NLGN2', 'score': 28.37}, {'connected_gene': 'DVL2', 'score': 27.41}, {'connected_gene': 'CTC1', 'score': 24.5}, {'connected_gene': 'PFAS', 'score': 22.52}, {'connected_gene': 'LOC100996842', 'score': 21.0}, {'connected_gene': 'CYB5D1', 'score': 20.75}, {'connected_gene': 'ZBTB4', 'score': 20.19}, {'connected_gene': 'SNORD10', 'score': 16.69}, {'connected_gene': 'ATP1B2', 'score': 14.27}, {'connected_gene': 'SNORA48', 'score': 13.66}, {'connected_gene': 'VAMP2', 'score': 13.36}, {'connected_gene': 'DLG4', 'score': 13.31}, {'connected_gene': 'MIR324', 'score': 12.42}, {'connected_gene': 'SNORD118', 'score': 11.72}, {'connected_gene': 'TMEM107', 'score': 11.71}, {'connected_gene': 'BORCS6', 'score': 11.48}, {'connected_gene': 'PLSCR3', 'score': 11.23}, {'connected_gene': 'CNTROB', 'score': 11.2}, {'connected_gene': 'ENSG00000269947', 'score': 11.14}, {'connected_gene': 'KDM6B', 'score': 11.08}, {'connected_gene': 'WRAP53', 'score': 10.68}, {'connected_gene': 'KCNAB3', 'score': 10.63}, {'connected_gene': 'PER1', 'score': 10.53}, {'connected_gene': 'EIF4A1', 'score': 10.14}, {'connected_gene': 'SPEM2', 'score': 6.9}, {'connected_gene': 'TRK-TTT3-5', 'score': 0.77}]
chr17 GH17I008172 8172372 8177561 2.37 [{'connected_gene': 'SNORD118', 'score': 550.77}, {'connected_gene': 'TMEM107', 'score': 550.77}, {'connected_gene': 'GC17M008511', 'score': 550.77}, {'connected_gene': 'LOC105371520', 'score': 550.77}, {'connected_gene': 'DVL2', 'score': 120.98}, {'connected_gene': 'CTC1', 'score': 108.83}, {'connected_gene': 'CNTROB', 'score': 103.01}, {'connected_gene': 'POLR2A', 'score': 94.41}, {'connected_gene': 'WRAP53', 'score': 93.86}, {'connected_gene': 'SNORD10', 'score': 82.64}, {'connected_gene': 'PFAS', 'score': 81.08}, {'connected_gene': 'KDM6B', 'score': 74.25}, {'connected_gene': 'SNORA48', 'score': 62.39}, {'connected_gene': 'PER1', 'score': 57.94}, {'connected_gene': 'ENSG00000265749', 'score': 53.22}, {'connected_gene': 'EIF4A1', 'score': 52.47}, {'connected_gene': 'MIR324', 'score': 41.95}, {'connected_gene': 'PLSCR3', 'score': 40.31}, {'connected_gene': 'KCTD11', 'score': 29.38}, {'connected_gene': 'TP53', 'score': 28.33}, {'connected_gene': 'SENP3', 'score': 27.48}, {'connected_gene': 'GPS2', 'score': 24.12}, {'connected_gene': 'RPL26', 'score': 19.72}, {'connected_gene': 'NEURL4', 'score': 17.99}, {'connected_gene': 'VAMP2', 'score': 12.28}, {'connected_gene': 'CYB5D1', 'score': 11.88}, {'connected_gene': 'ATP1B2', 'score': 10.94}, {'connected_gene': 'ENSG00000269947', 'score': 10.47}, {'connected_gene': 'HES7', 'score': 10.4}, {'connected_gene': 'NLGN2', 'score': 10.22}, {'connected_gene': 'SLC25A35', 'score': 10.09}, {'connected_gene': 'CHD3', 'score': 9.91}, {'connected_gene': 'LOC100996842', 'score': 9.9}, {'connected_gene': 'ALOXE3', 'score': 4.87}, {'connected_gene': 'KRBA2', 'score': 4.66}, {'connected_gene': 'SPEM2', 'score': 4.45}]
chr17 GH17I008109 8109152 8110656 1.02 [{'connected_gene': 'ALOXE3', 'score': 17.64}, {'connected_gene': 'ALOX12B', 'score': 13.67}, {'connected_gene': 'LOC107985075', 'score': 13.62}, {'connected_gene': 'ALOX15B', 'score': 11.02}, {'connected_gene': 'SNORD118', 'score': 10.66}, {'connected_gene': 'TMEM107', 'score': 10.65}, {'connected_gene': 'CNTROB', 'score': 10.21}, {'connected_gene': 'TRAPPC1', 'score': 10.21}, {'connected_gene': 'KCNAB3', 'score': 10.2}, {'connected_gene': 'PFAS', 'score': 9.91}, {'connected_gene': 'MIR4314', 'score': 0.34}]
chr17 GH17I008105 8105862 8106966 0.66 [{'connected_gene': 'ALOXE3', 'score': 33.39}, {'connected_gene': 'LOC107985075', 'score': 13.64}, {'connected_gene': 'ALOX15B', 'score': 11.03}, {'connected_gene': 'SNORD118', 'score': 10.65}, {'connected_gene': 'TMEM107', 'score': 10.65}, {'connected_gene': 'KCNAB3', 'score': 10.21}, {'connected_gene': 'CNTROB', 'score': 10.21}, {'connected_gene': 'TRAPPC1', 'score': 10.21}, {'connected_gene': 'PFAS', 'score': 9.91}, {'connected_gene': 'BORCS6', 'score': 5.68}, {'connected_gene': 'MIR4314', 'score': 0.37}]
chr17 GH17I008093 8093963 8094112 0.91 [{'connected_gene': 'DVL2', 'score': 148.13}, {'connected_gene': 'PFAS', 'score': 136.12}, {'connected_gene': 'CTC1', 'score': 87.02}, {'connected_gene': 'CNTROB', 'score': 66.51}, {'connected_gene': 'WRAP53', 'score': 59.62}, {'connected_gene': 'POLR2A', 'score': 49.88}, {'connected_gene': 'SNORD10', 'score': 48.25}, {'connected_gene': 'ENSG00000265749', 'score': 41.17}, {'connected_gene': 'SNORA48', 'score': 40.21}, {'connected_gene': 'NLGN2', 'score': 34.93}, {'connected_gene': 'RPL26', 'score': 33.21}, {'connected_gene': 'KCTD11', 'score': 29.89}, {'connected_gene': 'MIR324', 'score': 28.89}, {'connected_gene': 'NEURL4', 'score': 28.81}, {'connected_gene': 'PLSCR3', 'score': 21.69}, {'connected_gene': 'PER1', 'score': 21.13}, {'connected_gene': 'ENSG00000269947', 'score': 19.44}, {'connected_gene': 'SENP3', 'score': 18.6}, {'connected_gene': 'LOC100996842', 'score': 18.2}, {'connected_gene': 'KDM6B', 'score': 13.82}, {'connected_gene': 'CYB5D1', 'score': 13.11}, {'connected_gene': 'EIF4A1', 'score': 10.98}, {'connected_gene': 'ATP1B2', 'score': 10.96}, {'connected_gene': 'HES7', 'score': 10.44}, {'connected_gene': 'SLC25A35', 'score': 10.38}, {'connected_gene': 'ZBTB4', 'score': 9.91}, {'connected_gene': 'MIR4314', 'score': 0.44}, {'connected_gene': 'ALOXE3', 'score': 0.31}]
chr17 GH17I008094 8094201 8094400 0.56 [{'connected_gene': 'MIR4314', 'score': 0.44}, {'connected_gene': 'ALOXE3', 'score': 0.34}]

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