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
ENST00000361314 [[53068043, 53068219], [53072355, 53072617], [53073933, 53074723]] [[53068081, 53068219], [53072355, 53072617], [53073933, 53074097]]
ENST00000459779 [[53068071, 53068219], [53072355, 53073080]] None
NM_015696 [[53068042, 53068219], [53072355, 53072617], [53073933, 53074723]] [[53068081, 53068219], [53072355, 53072617], [53073933, 53074097]]
Promoter
Chrom Start End Description
chr1 53068020 53068087 CAGE_peak_1_at_GPX7_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I052138 52138808 52143600 2.24 [{'connected_gene': 'ZFYVE9', 'score': 550.77}, {'connected_gene': 'PRPF38A', 'score': 23.99}, {'connected_gene': 'ZCCHC11', 'score': 16.13}, {'connected_gene': 'RPS13P2', 'score': 12.14}, {'connected_gene': 'ENSG00000230953', 'score': 11.32}, {'connected_gene': 'ENSG00000266993', 'score': 10.64}, {'connected_gene': 'PODN', 'score': 10.4}, {'connected_gene': 'CC2D1B', 'score': 9.26}, {'connected_gene': 'LOC100190934', 'score': 8.97}, {'connected_gene': 'GPX7', 'score': 8.73}, {'connected_gene': 'TXNDC12', 'score': 5.71}, {'connected_gene': 'PIR34571', 'score': 0.23}]
chr1 GH01I053324 53324026 53328642 2.25 [{'connected_gene': 'LRP8', 'score': 556.28}, {'connected_gene': 'LINC01771', 'score': 550.77}, {'connected_gene': 'MAGOH', 'score': 23.78}, {'connected_gene': 'PRPF38A', 'score': 11.76}, {'connected_gene': 'RPS13P2', 'score': 11.24}, {'connected_gene': 'LRRC42', 'score': 10.9}, {'connected_gene': 'SSBP3-AS1', 'score': 10.84}, {'connected_gene': 'GPX7', 'score': 10.45}, {'connected_gene': 'C1orf123', 'score': 4.86}, {'connected_gene': 'GC01M053305', 'score': 0.37}]
chr1 GH01I053144 53144962 53148824 1.32 [{'connected_gene': 'SLC1A7', 'score': 13.41}, {'connected_gene': 'PODN', 'score': 9.37}, {'connected_gene': 'GPX7', 'score': 5.2}, {'connected_gene': 'PLA2G12AP1', 'score': 3.99}, {'connected_gene': 'LOC105378724', 'score': 0.29}]
chr1 GH01I052574 52574326 52575338 0.72 [{'connected_gene': 'EEF1GP7', 'score': 550.77}, {'connected_gene': 'CC2D1B', 'score': 16.48}, {'connected_gene': 'GPX7', 'score': 12.5}, {'connected_gene': 'ZCCHC11', 'score': 12.42}, {'connected_gene': 'PRPF38A', 'score': 10.5}]
chr1 GH01I051874 51874801 51880132 2.56 [{'connected_gene': 'NRDC', 'score': 561.05}, {'connected_gene': 'ENSG00000266993', 'score': 63.03}, {'connected_gene': 'ZCCHC11', 'score': 52.1}, {'connected_gene': 'PRPF38A', 'score': 23.07}, {'connected_gene': 'CC2D1B', 'score': 14.37}, {'connected_gene': 'ZFYVE9', 'score': 13.19}, {'connected_gene': 'LINC01562', 'score': 12.69}, {'connected_gene': 'TXNDC12', 'score': 11.24}, {'connected_gene': 'RPS13P2', 'score': 10.09}, {'connected_gene': 'KTI12', 'score': 9.84}, {'connected_gene': 'GPX7', 'score': 9.83}, {'connected_gene': 'OSBPL9', 'score': 1.69}, {'connected_gene': 'GC01P051865', 'score': 0.39}]
chr1 GH01I052659 52659066 52660664 0.93 [{'connected_gene': 'MAGOH', 'score': 16.07}, {'connected_gene': 'PRPF38A', 'score': 14.04}, {'connected_gene': 'GPX7', 'score': 11.09}, {'connected_gene': 'ZCCHC11', 'score': 11.04}, {'connected_gene': 'RPS13P2', 'score': 10.38}, {'connected_gene': 'ENSG00000230953', 'score': 10.25}, {'connected_gene': 'PODN', 'score': 10.14}, {'connected_gene': 'ZYG11B', 'score': 5.63}, {'connected_gene': 'PIR34624', 'score': 0.37}, {'connected_gene': 'GC01P052637', 'score': 0.34}, {'connected_gene': 'SHISAL2A', 'score': 0.31}]
chr1 GH01I053502 53502728 53502857 0.8 [{'connected_gene': 'MAGOH', 'score': 13.05}, {'connected_gene': 'GPX7', 'score': 12.41}, {'connected_gene': 'LRRC42', 'score': 11.11}, {'connected_gene': 'NDC1', 'score': 9.72}, {'connected_gene': 'DMRTB1', 'score': 0.26}, {'connected_gene': 'PIR60882', 'score': 0.19}]
chr1 GH01I052904 52904826 52906386 0.75 [{'connected_gene': 'MAGOH', 'score': 14.91}, {'connected_gene': 'SCP2', 'score': 12.34}, {'connected_gene': 'ECHDC2', 'score': 12.34}, {'connected_gene': 'ZCCHC11', 'score': 11.2}, {'connected_gene': 'ENSG00000230953', 'score': 10.68}, {'connected_gene': 'RPS13P2', 'score': 10.18}, {'connected_gene': 'GPX7', 'score': 9.86}, {'connected_gene': 'SLC1A7', 'score': 5.61}, {'connected_gene': 'PIR50883', 'score': 0.44}]
chr1 GH01I052631 52631305 52639399 2.63 [{'connected_gene': 'SHISAL2A', 'score': 557.17}, {'connected_gene': 'ZCCHC11', 'score': 29.15}, {'connected_gene': 'GPX7', 'score': 26.89}, {'connected_gene': 'MAGOH', 'score': 14.62}, {'connected_gene': 'PRPF38A', 'score': 13.33}, {'connected_gene': 'ENSG00000230953', 'score': 12.29}, {'connected_gene': 'ENSG00000272100', 'score': 12.01}, {'connected_gene': 'CC2D1B', 'score': 11.66}, {'connected_gene': 'ENSG00000266993', 'score': 11.43}, {'connected_gene': 'ORC1', 'score': 10.75}, {'connected_gene': 'ECHDC2', 'score': 9.95}, {'connected_gene': 'RPS13P2', 'score': 9.84}, {'connected_gene': 'GC01P052637', 'score': 0.77}]
chr1 GH01I052653 52653159 52654829 0.59 [{'connected_gene': 'GPX7', 'score': 11.44}, {'connected_gene': 'PRPF38A', 'score': 9.91}, {'connected_gene': 'COA7', 'score': 5.15}, {'connected_gene': 'GC01P052637', 'score': 0.37}, {'connected_gene': 'SHISAL2A', 'score': 0.34}, {'connected_gene': 'PIR34624', 'score': 0.34}]
chr1 GH01I052569 52569201 52570200 0.74 [{'connected_gene': 'GPX7', 'score': 11.31}, {'connected_gene': 'PRPF38A', 'score': 9.99}, {'connected_gene': 'EEF1GP7', 'score': 0.77}, {'connected_gene': 'GC01P052561', 'score': 0.44}]
chr1 GH01I052600 52600849 52600998 0.66 [{'connected_gene': 'GPX7', 'score': 550.77}, {'connected_gene': 'EEF1GP7', 'score': 0.31}]
chr1 GH01I052640 52640544 52641770 1 [{'connected_gene': 'GPX7', 'score': 11.4}, {'connected_gene': 'SHISAL2A', 'score': 4.01}, {'connected_gene': 'ZCCHC11', 'score': 1.68}, {'connected_gene': 'PRPF38A', 'score': 1.58}, {'connected_gene': 'CC2D1B', 'score': 1.24}, {'connected_gene': 'GC01P052637', 'score': 0.77}, {'connected_gene': 'PIR34624', 'score': 0.29}]
chr1 GH01I052651 52651551 52652697 0.81 [{'connected_gene': 'GPX7', 'score': 11.46}, {'connected_gene': 'GC01P052637', 'score': 0.39}, {'connected_gene': 'SHISAL2A', 'score': 0.34}, {'connected_gene': 'PIR34624', 'score': 0.34}]
chr1 GH01I052655 52655084 52657415 0.31 [{'connected_gene': 'GPX7', 'score': 11.44}, {'connected_gene': 'GC01P052637', 'score': 0.37}, {'connected_gene': 'PIR34624', 'score': 0.37}, {'connected_gene': 'SHISAL2A', 'score': 0.34}]
chr1 GH01I052674 52674316 52680020 0.91 [{'connected_gene': 'GPX7', 'score': 15.91}, {'connected_gene': 'ZCCHC11', 'score': 11.18}, {'connected_gene': 'ZYG11B', 'score': 7.65}, {'connected_gene': 'COA7', 'score': 6.45}, {'connected_gene': 'SCP2', 'score': 5.53}, {'connected_gene': 'SHISAL2A', 'score': 5.34}, {'connected_gene': 'PIR34624', 'score': 0.77}, {'connected_gene': 'GC01P052685', 'score': 0.44}]
chr1 GH01I052662 52662269 52663586 1 [{'connected_gene': 'GPX7', 'score': 11.08}, {'connected_gene': 'ZCCHC11', 'score': 11.04}, {'connected_gene': 'ZYG11B', 'score': 6.58}, {'connected_gene': 'PIR34624', 'score': 0.39}, {'connected_gene': 'GC01P052637', 'score': 0.34}, {'connected_gene': 'SHISAL2A', 'score': 0.29}]
chr1 GH01I052601 52601157 52605442 1.72 [{'connected_gene': 'GPX7', 'score': 620.37}, {'connected_gene': 'CC2D1B', 'score': 19.62}, {'connected_gene': 'SHISAL2A', 'score': 12.43}, {'connected_gene': 'ZCCHC11', 'score': 11.2}, {'connected_gene': 'GC01P052619', 'score': 0.37}]
chr1 GH01I052647 52647981 52650376 0.31 [{'connected_gene': 'GPX7', 'score': 9.64}, {'connected_gene': 'CC2D1B', 'score': 6.24}, {'connected_gene': 'SHISAL2A', 'score': 4.72}, {'connected_gene': 'GC01P052637', 'score': 0.39}, {'connected_gene': 'PIR34624', 'score': 0.31}]
chr1 GH01I052550 52550115 52555682 2.3 [{'connected_gene': 'ZCCHC11', 'score': 583.32}, {'connected_gene': 'ENSG00000272371', 'score': 550.77}, {'connected_gene': 'MAGOH', 'score': 26.88}, {'connected_gene': 'ENSG00000266993', 'score': 24.82}, {'connected_gene': 'CC2D1B', 'score': 21.8}, {'connected_gene': 'RPS13P2', 'score': 20.53}, {'connected_gene': 'ENSG00000230953', 'score': 19.93}, {'connected_gene': 'GPX7', 'score': 19.81}, {'connected_gene': 'C1orf123', 'score': 10.3}, {'connected_gene': 'PRPF38A', 'score': 9.85}, {'connected_gene': 'SHISAL2A', 'score': 2.5}, {'connected_gene': 'ZYG11B', 'score': 2.15}, {'connected_gene': 'BTF3L4', 'score': 1.41}, {'connected_gene': 'GC01P052555', 'score': 0.77}, {'connected_gene': 'LOC105378723', 'score': 0.34}]
chr1 GH01I052454 52454698 52455300 0.31 [{'connected_gene': 'ZCCHC11', 'score': 11.18}, {'connected_gene': 'GPX7', 'score': 10.57}, {'connected_gene': 'PRPF38A', 'score': 0.23}, {'connected_gene': 'GC01M052527', 'score': 0.19}]
chr1 GH01I052668 52668329 52670905 0.43 [{'connected_gene': 'ZCCHC11', 'score': 16.7}, {'connected_gene': 'GPX7', 'score': 11.08}, {'connected_gene': 'ZYG11B', 'score': 6.33}, {'connected_gene': 'SCP2', 'score': 4.49}, {'connected_gene': 'PIR34624', 'score': 0.44}, {'connected_gene': 'GC01P052637', 'score': 0.29}, {'connected_gene': 'SHISAL2A', 'score': 0.28}]
chr1 GH01I052644 52644868 52647642 0.54 [{'connected_gene': 'ZCCHC11', 'score': 11.41}, {'connected_gene': 'GPX7', 'score': 9.42}, {'connected_gene': 'SHISAL2A', 'score': 4.63}, {'connected_gene': 'GC01P052637', 'score': 0.44}, {'connected_gene': 'PIR34624', 'score': 0.31}]
chr1 GH01I052422 52422853 52425661 0.92 [{'connected_gene': 'ZCCHC11', 'score': 23.02}, {'connected_gene': 'CC2D1B', 'score': 22.06}, {'connected_gene': 'GPX7', 'score': 15.88}, {'connected_gene': 'PRPF38A', 'score': 0.37}, {'connected_gene': 'GC01M052527', 'score': 0.15}]
chr1 GH01I052364 52364062 52367269 2.09 [{'connected_gene': 'CC2D1B', 'score': 573.72}, {'connected_gene': 'PRPF38A', 'score': 28.17}, {'connected_gene': 'ZCCHC11', 'score': 24.7}, {'connected_gene': 'MAGOH', 'score': 24.42}, {'connected_gene': 'ENSG00000230953', 'score': 21.41}, {'connected_gene': 'ENSG00000266993', 'score': 16.03}, {'connected_gene': 'ORC1', 'score': 11.65}, {'connected_gene': 'LOC100190934', 'score': 10.96}, {'connected_gene': 'RPS13P2', 'score': 10.11}, {'connected_gene': 'GPX7', 'score': 9.87}, {'connected_gene': 'ENSG00000272100', 'score': 0.39}]
chr1 GH01I051728 51728221 51731591 2.07 [{'connected_gene': 'OSBPL9', 'score': 554.01}, {'connected_gene': 'GC01P051732', 'score': 550.77}, {'connected_gene': 'GC01P051733', 'score': 550.77}, {'connected_gene': 'ENSG00000266993', 'score': 16.21}, {'connected_gene': 'PRPF38A', 'score': 11.77}, {'connected_gene': 'TXNDC12', 'score': 11.2}, {'connected_gene': 'ZCCHC11', 'score': 11.17}, {'connected_gene': 'NRDC', 'score': 10.39}, {'connected_gene': 'GPX7', 'score': 9.83}, {'connected_gene': 'KTI12', 'score': 9.79}, {'connected_gene': 'RNU6-877P', 'score': 9.15}, {'connected_gene': 'ENSG00000212624', 'score': 0.44}]
chr1 GH01I052162 52162517 52162911 0.22 [{'connected_gene': 'GC01M052162', 'score': 550.77}, {'connected_gene': 'LOC724060', 'score': 550.77}, {'connected_gene': 'GPX7', 'score': 7.4}, {'connected_gene': 'LOC100190934', 'score': 0.77}, {'connected_gene': 'GC01M052152', 'score': 0.44}, {'connected_gene': 'ZFYVE9', 'score': 0.34}]
chr1 GH01I052532 52532001 52533279 0.89 [{'connected_gene': 'GC01P052532', 'score': 550.77}, {'connected_gene': 'LOC105378723', 'score': 550.77}, {'connected_gene': 'GPX7', 'score': 23.2}, {'connected_gene': 'ZCCHC11', 'score': 17.31}, {'connected_gene': 'CC2D1B', 'score': 17.22}, {'connected_gene': 'PRPF38A', 'score': 8.38}, {'connected_gene': 'GC01P052542', 'score': 0.44}]

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