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
ENST00000573382 [[44184675, 44184705], [44185186, 44185973]] None
ENST00000576476 [[44184698, 44184731], [44185186, 44185835]] None

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I043476 43476682 43479135 2 [{'connected_gene': 'TJAP1', 'score': 550.77}, {'connected_gene': 'MYMX', 'score': 12.57}, {'connected_gene': 'RSPH9', 'score': 7.42}, {'connected_gene': 'GC06P043482', 'score': 0.77}, {'connected_gene': 'GC06P043362', 'score': 0.13}]
chr6 GH06I044312 44312135 44313973 2.13 [{'connected_gene': 'AARS2', 'score': 562.2}, {'connected_gene': 'ZNF318', 'score': 45.54}, {'connected_gene': 'ABCC10', 'score': 33.62}, {'connected_gene': 'RPS2P29', 'score': 32.97}, {'connected_gene': 'POLH', 'score': 28.46}, {'connected_gene': 'GTPBP2', 'score': 27.24}, {'connected_gene': 'POLR1C', 'score': 26.23}, {'connected_gene': 'XPO5', 'score': 23.88}, {'connected_gene': 'RPL34P14', 'score': 19.6}, {'connected_gene': 'ENSG00000271754', 'score': 18.56}, {'connected_gene': 'MYMX', 'score': 12.67}, {'connected_gene': 'CDC5L', 'score': 11.16}, {'connected_gene': 'ENSG00000271970', 'score': 11.12}, {'connected_gene': 'YIPF3', 'score': 10.01}, {'connected_gene': 'TMEM151B', 'score': 9.51}, {'connected_gene': 'TCTE1', 'score': 0.37}, {'connected_gene': 'ENSG00000272442', 'score': 0.28}]
chr6 GH06I043686 43686810 43688634 2.24 [{'connected_gene': 'MRPS18A', 'score': 550.77}, {'connected_gene': 'MYMX', 'score': 12.58}, {'connected_gene': 'RSPH9', 'score': 10.57}, {'connected_gene': 'MAD2L1BP', 'score': 10.53}, {'connected_gene': 'GTPBP2', 'score': 10.53}, {'connected_gene': 'GC06M043677', 'score': 0.44}, {'connected_gene': 'GC06P043362', 'score': 0.05}]
chr6 GH06I043624 43624351 43631726 2.34 [{'connected_gene': 'GTPBP2', 'score': 618.69}, {'connected_gene': 'MAD2L1BP', 'score': 550.77}, {'connected_gene': 'POLH', 'score': 61.08}, {'connected_gene': 'ZNF318', 'score': 57.24}, {'connected_gene': 'ABCC10', 'score': 53.86}, {'connected_gene': 'RRP36', 'score': 42.88}, {'connected_gene': 'RPS2P29', 'score': 35.13}, {'connected_gene': 'CUL7', 'score': 33.91}, {'connected_gene': 'BICRAL', 'score': 21.63}, {'connected_gene': 'XPO5', 'score': 14.05}, {'connected_gene': 'POLR1C', 'score': 13.55}, {'connected_gene': 'RPL34P14', 'score': 12.96}, {'connected_gene': 'MYMX', 'score': 12.57}, {'connected_gene': 'PEX6', 'score': 12.41}, {'connected_gene': 'AARS2', 'score': 11.59}, {'connected_gene': 'YIPF3', 'score': 11.49}, {'connected_gene': 'SLC35B2', 'score': 10.74}, {'connected_gene': 'ENSG00000271754', 'score': 10.61}, {'connected_gene': 'ENSG00000272223', 'score': 9.83}, {'connected_gene': 'PTK7', 'score': 9.69}, {'connected_gene': 'RSPH9', 'score': 8.7}, {'connected_gene': 'PIR56550', 'score': 0.44}, {'connected_gene': 'GC06P043623', 'score': 0.44}, {'connected_gene': 'GC06P043362', 'score': 0.06}]
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 GH06I044040 44040234 44045150 1.75 [{'connected_gene': 'ZNF318', 'score': 85.89}, {'connected_gene': 'ABCC10', 'score': 78.37}, {'connected_gene': 'POLH', 'score': 74.43}, {'connected_gene': 'GTPBP2', 'score': 72.18}, {'connected_gene': 'CUL7', 'score': 66.48}, {'connected_gene': 'RPS2P29', 'score': 41.83}, {'connected_gene': 'RPL34P14', 'score': 32.15}, {'connected_gene': 'XPO5', 'score': 27.58}, {'connected_gene': 'POLR1C', 'score': 22.33}, {'connected_gene': 'SLC35B2', 'score': 21.73}, {'connected_gene': 'TJAP1', 'score': 18.55}, {'connected_gene': 'MYMX', 'score': 12.66}, {'connected_gene': 'AARS2', 'score': 11.62}, {'connected_gene': 'YIPF3', 'score': 10.87}, {'connected_gene': 'ENSG00000271970', 'score': 9.72}, {'connected_gene': 'MRPL14', 'score': 2.2}, {'connected_gene': 'C6orf223', 'score': 1.77}, {'connected_gene': 'VEGFA', 'score': 1.38}, {'connected_gene': 'GC06P044013', 'score': 0.31}, {'connected_gene': 'GC06M044069', 'score': 0.29}, {'connected_gene': 'LOC101929705', 'score': 0.29}]
chr6 GH06I044216 44216010 44230324 2.59 [{'connected_gene': 'SLC29A1', 'score': 564.04}, {'connected_gene': 'GTPBP2', 'score': 31.19}, {'connected_gene': 'POLH', 'score': 24.62}, {'connected_gene': 'RPS2P29', 'score': 24.3}, {'connected_gene': 'ZNF318', 'score': 21.16}, {'connected_gene': 'ABCC10', 'score': 20.02}, {'connected_gene': 'YIPF3', 'score': 19.66}, {'connected_gene': 'MYMX', 'score': 18.84}, {'connected_gene': 'SLC35B2', 'score': 11.01}, {'connected_gene': 'RPL34P14', 'score': 10.29}, {'connected_gene': 'MRPL14', 'score': 1.46}, {'connected_gene': 'GC06P044215', 'score': 0.44}, {'connected_gene': 'GC06P044236', 'score': 0.39}]
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 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 GH06I044187 44186004 44186153 0.46 [{'connected_gene': 'LOC105375072', 'score': 550.77}, {'connected_gene': 'MYMX', 'score': 0.44}]
chr6 GH06I044186 44186401 44186600 0.56 [{'connected_gene': 'LOC105375072', 'score': 550.77}, {'connected_gene': 'MYMX', 'score': 0.44}]
chr6 GH06I044192 44192184 44193293 1.18 [{'connected_gene': 'MYMX', 'score': 550.77}, {'connected_gene': 'SLC29A1', 'score': 9.75}, {'connected_gene': 'RN7SL811P', 'score': 0.37}]
chr6 GH06I043950 43948069 43948168 0.56 [{'connected_gene': 'MYMX', 'score': 12.61}, {'connected_gene': 'LOC105375067', 'score': 0.25}, {'connected_gene': 'GC06M043993', 'score': 0.25}]
chr6 GH06I043955 43948179 43948276 0.52 [{'connected_gene': 'MYMX', 'score': 12.61}, {'connected_gene': 'LOC105375067', 'score': 0.25}, {'connected_gene': 'GC06M043993', 'score': 0.25}]
chr6 GH06I043947 43947857 43948058 0.57 [{'connected_gene': 'MYMX', 'score': 12.61}, {'connected_gene': 'LOC105375067', 'score': 0.25}, {'connected_gene': 'GC06M043993', 'score': 0.25}]