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
ENST00000357878 [[124895477, 124895966], [124896573, 124897257]] [[124895566, 124895966], [124896573, 124897247]]
NM_001105574 [[124895566, 124895966], [124896573, 124897247]] [[124895566, 124895966], [124896573, 124897247]]
Promoter
Chrom Start End Description
chr10 124895227 124895241 CAGE_peak_5_at_HMX3_5end
chr10 124895472 124895508 CAGE_peak_1_at_HMX3_5end
chr10 124895520 124895540 CAGE_peak_3_at_HMX3_5end
chr10 124895548 124895570 CAGE_peak_2_at_HMX3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I123392 123392107 123392565 1.07 [{'connected_gene': 'BUB3', 'score': 1.75}, {'connected_gene': 'HMX3', 'score': 1.47}, {'connected_gene': 'GC10P123367', 'score': 0.34}, {'connected_gene': 'ENSG00000225152', 'score': 0.28}, {'connected_gene': 'LOC105378531', 'score': 0.28}]
chr10 GH10I123039 123039001 123039200 0.31 [{'connected_gene': 'IKZF5', 'score': 11.37}, {'connected_gene': 'ACADSB', 'score': 11.37}, {'connected_gene': 'HMX3', 'score': 10.45}, {'connected_gene': 'GC10P123103', 'score': 0.21}]
chr10 GH10I123139 123138499 123140149 0.95 [{'connected_gene': 'IKZF5', 'score': 10.01}, {'connected_gene': 'ACADSB', 'score': 10.01}, {'connected_gene': 'HMX2', 'score': 0.77}, {'connected_gene': 'HMX3', 'score': 0.77}, {'connected_gene': 'GC10P123103', 'score': 0.28}]
chr10 GH10I123043 123043445 123043614 0.7 [{'connected_gene': 'ACADSB', 'score': 19.22}, {'connected_gene': 'IKZF5', 'score': 11.37}, {'connected_gene': 'HMX3', 'score': 10.73}, {'connected_gene': 'GC10P123103', 'score': 0.22}]
chr10 GH10I123017 123017345 123018709 0.38 [{'connected_gene': 'ACADSB', 'score': 35.79}, {'connected_gene': 'HMX3', 'score': 10.05}, {'connected_gene': 'BTBD16', 'score': 4.9}, {'connected_gene': 'GC10P123103', 'score': 0.17}]
chr10 GH10I123019 123019721 123020689 0.83 [{'connected_gene': 'ACADSB', 'score': 22.42}, {'connected_gene': 'HMX3', 'score': 9.89}, {'connected_gene': 'GC10P123103', 'score': 0.18}]
chr10 GH10I123160 123160205 123161368 0.31 [{'connected_gene': 'HMX3', 'score': 11.47}, {'connected_gene': 'GC10P123164', 'score': 0.77}, {'connected_gene': 'BUB3', 'score': 0.44}]
chr10 GH10I123157 123157236 123157864 0.77 [{'connected_gene': 'HMX3', 'score': 11.75}, {'connected_gene': 'IKZF5', 'score': 10.22}, {'connected_gene': 'ACADSB', 'score': 10.22}, {'connected_gene': 'BUB3', 'score': 0.77}, {'connected_gene': 'GC10P123164', 'score': 0.44}, {'connected_gene': 'GC10P123103', 'score': 0.23}]
chr10 GH10I123138 123137745 123137894 0.54 [{'connected_gene': 'HMX3', 'score': 550.77}, {'connected_gene': 'HMX2', 'score': 0.77}, {'connected_gene': 'GC10P123103', 'score': 0.29}]
chr10 GH10I123136 123136487 123137432 0.59 [{'connected_gene': 'HMX3', 'score': 550.77}, {'connected_gene': 'HMX2', 'score': 0.44}, {'connected_gene': 'GC10P123103', 'score': 0.29}]
chr10 GH10I123137 123135285 123135796 0.98 [{'connected_gene': 'HMX3', 'score': 550.77}, {'connected_gene': 'BTBD16', 'score': 4.72}, {'connected_gene': 'GC10P123103', 'score': 0.29}]
chr10 GH10I123550 123550685 123550794 0.4 [{'connected_gene': 'HMX3', 'score': 10.85}, {'connected_gene': 'LOC105378530', 'score': 0.39}, {'connected_gene': 'GC10M123502', 'score': 0.26}, {'connected_gene': 'LOC105378531', 'score': 0.08}]
chr10 GH10I123545 123545416 123546330 0.2 [{'connected_gene': 'HMX3', 'score': 10.55}, {'connected_gene': 'LOC105378530', 'score': 0.37}, {'connected_gene': 'GC10M123502', 'score': 0.28}, {'connected_gene': 'LOC105378531', 'score': 0.08}]
chr10 GH10I123534 123534401 123534800 0.43 [{'connected_gene': 'HMX3', 'score': 10.32}, {'connected_gene': 'LOC105378530', 'score': 0.31}, {'connected_gene': 'GC10M123502', 'score': 0.31}, {'connected_gene': 'LOC105378531', 'score': 0.09}]
chr10 GH10I123553 123553188 123553533 0.91 [{'connected_gene': 'HMX3', 'score': 10.97}, {'connected_gene': 'LOC105378530', 'score': 0.44}, {'connected_gene': 'GC10M123502', 'score': 0.25}, {'connected_gene': 'LOC105378531', 'score': 0.08}]
chr10 GH10I123132 123132637 123133885 1.01 [{'connected_gene': 'HMX3', 'score': 0.77}, {'connected_gene': 'GC10P123103', 'score': 0.31}]
chr10 GH10I123135 123135805 123135990 1.25 [{'connected_gene': 'HMX3', 'score': 550.77}, {'connected_gene': 'GC10P123103', 'score': 0.29}]
chr10 GH10I123140 123140425 123140574 0.56 [{'connected_gene': 'HMX2', 'score': 550.77}, {'connected_gene': 'HMX3', 'score': 0.77}, {'connected_gene': 'GC10P123103', 'score': 0.28}]
chr10 GH10I123109 123109199 123109834 0.76 [{'connected_gene': 'GC10P123103', 'score': 0.44}, {'connected_gene': 'HMX3', 'score': 0.31}]
chr10 GH10I123118 123117725 123117894 0.38 [{'connected_gene': 'GC10P123103', 'score': 0.39}, {'connected_gene': 'HMX3', 'score': 0.37}]
chr10 GH10I123117 123117939 123118362 0.38 [{'connected_gene': 'GC10P123103', 'score': 0.39}, {'connected_gene': 'HMX3', 'score': 0.37}]

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