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
ENST00000457408 [[44617492, 44619227], [44620691, 44620838], [44621047, 44621173], [44621321, 44621422], [44621645, 44621858]] [[44619077, 44619227], [44620691, 44620838], [44621047, 44621173], [44621321, 44621422], [44621645, 44621805]]
ENST00000289577 [[44617492, 44619227], [44621047, 44621173], [44621321, 44621422], [44621645, 44621886]] [[44619077, 44619227], [44621047, 44621173], [44621321, 44621422], [44621645, 44621805]]
ENST00000481238 [[44619495, 44620838], [44621047, 44621173], [44621321, 44621422], [44621645, 44621830]] [[44620664, 44620838], [44621047, 44621173], [44621321, 44621422], [44621645, 44621805]]
ENST00000477639 [[44619502, 44620838], [44621047, 44621173], [44621321, 44621809]] None
ENST00000444131 [[44620691, 44620838], [44621047, 44621173], [44621321, 44621405], [44621652, 44621840]] None
NM_001303062 [[44617492, 44619227], [44620691, 44620838], [44621047, 44621173], [44621321, 44621894]] [[44619077, 44619227], [44620691, 44620838], [44621047, 44621173], [44621321, 44621405]]
NM_182547 [[44617492, 44619227], [44620691, 44620838], [44621047, 44621173], [44621321, 44621422], [44621645, 44621894]] [[44619077, 44619227], [44620691, 44620838], [44621047, 44621173], [44621321, 44621422], [44621645, 44621805]]
NM_001303059 [[44617492, 44619227], [44621047, 44621173], [44621321, 44621422], [44621645, 44621894]] [[44619077, 44619227], [44621047, 44621173], [44621321, 44621422], [44621645, 44621805]]
NM_001303061 [[44617492, 44619227], [44620691, 44620838], [44621047, 44621173], [44621321, 44621422], [44621652, 44621894]] [[44619077, 44619227], [44620691, 44620838], [44621047, 44621173], [44621321, 44621405]]
NM_001303060 [[44619489, 44620838], [44621047, 44621173], [44621321, 44621894]] [[44620664, 44620838], [44621047, 44621173], [44621321, 44621405]]
NM_001303058 [[44619489, 44620838], [44621047, 44621173], [44621321, 44621422], [44621645, 44621894]] [[44620664, 44620838], [44621047, 44621173], [44621321, 44621422], [44621645, 44621805]]
Promoter
Chrom Start End Description
chr7 44621608 44621619 CAGE_peak_6_at_TMED4_5end
chr7 44621756 44621767 CAGE_peak_3_at_TMED4_5end
chr7 44621777 44621863 CAGE_peak_1_at_TMED4_5end
chr7 44621878 44621889 CAGE_peak_2_at_TMED4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I043653 43653196 43654400 0.86 [{'connected_gene': 'STK17A', 'score': 26.28}, {'connected_gene': 'DDX56', 'score': 16.51}, {'connected_gene': 'BLVRA', 'score': 12.99}, {'connected_gene': 'ENSG00000228434', 'score': 11.52}, {'connected_gene': 'TMED4', 'score': 11.12}, {'connected_gene': 'COA1', 'score': 10.93}, {'connected_gene': 'SPDYE1', 'score': 9.85}, {'connected_gene': 'GC07M043624', 'score': 0.31}]
chr7 GH07I044997 44997963 45002495 2.5 [{'connected_gene': 'CCM2', 'score': 563.25}, {'connected_gene': 'LOC102723334', 'score': 550.77}, {'connected_gene': 'SNORA5C', 'score': 17.04}, {'connected_gene': 'POLM', 'score': 16.72}, {'connected_gene': 'ENSG00000260997', 'score': 15.92}, {'connected_gene': 'DDX56', 'score': 13.88}, {'connected_gene': 'SNORA5A', 'score': 11.63}, {'connected_gene': 'SNORA5B', 'score': 11.3}, {'connected_gene': 'ENSG00000228434', 'score': 11.29}, {'connected_gene': 'SNHG15', 'score': 10.63}, {'connected_gene': 'TMED4', 'score': 10.44}, {'connected_gene': 'TBRG4', 'score': 10.21}, {'connected_gene': 'CICP20', 'score': 9.83}, {'connected_gene': 'PURB', 'score': 5.74}, {'connected_gene': 'MYO1G', 'score': 1.87}, {'connected_gene': 'OGDH', 'score': 1.61}, {'connected_gene': 'GC07M045025', 'score': 0.29}]
chr7 GH07I044989 44989456 44992217 1.29 [{'connected_gene': 'CCM2', 'score': 19.28}, {'connected_gene': 'ENSG00000260997', 'score': 15.92}, {'connected_gene': 'CICP20', 'score': 14.57}, {'connected_gene': 'DDX56', 'score': 12.8}, {'connected_gene': 'TMED4', 'score': 12.37}, {'connected_gene': 'SNORA5B', 'score': 11.12}, {'connected_gene': 'SNORA5C', 'score': 10.88}, {'connected_gene': 'TBRG4', 'score': 5.54}, {'connected_gene': 'LINC00957', 'score': 5.52}, {'connected_gene': 'SNHG15', 'score': 0.77}]
chr7 GH07I044333 44333390 44334874 0.43 [{'connected_gene': 'CAMK2B', 'score': 550.77}, {'connected_gene': 'NUDCD3', 'score': 10.21}, {'connected_gene': 'TMED4', 'score': 4.36}, {'connected_gene': 'PIR57733', 'score': 0.13}]
chr7 GH07I043868 43868162 43871622 2.23 [{'connected_gene': 'MRPS24', 'score': 550.77}, {'connected_gene': 'POLM', 'score': 30.49}, {'connected_gene': 'URGCP', 'score': 19.4}, {'connected_gene': 'DDX56', 'score': 15.57}, {'connected_gene': 'ENSG00000239556', 'score': 13.52}, {'connected_gene': 'ENSG00000228434', 'score': 11.17}, {'connected_gene': 'TMED4', 'score': 10.74}, {'connected_gene': 'ENSG00000241057', 'score': 4.59}, {'connected_gene': 'LINC00957', 'score': 4.5}, {'connected_gene': 'RASA4CP', 'score': 4.32}, {'connected_gene': 'GC07P043860', 'score': 0.44}, {'connected_gene': 'GC07P043861', 'score': 0.44}, {'connected_gene': 'PIR56876', 'score': 0.44}, {'connected_gene': 'URGCP-MRPS24', 'score': 0.28}]
chr7 GH07I044613 44613873 44626909 1.64 [{'connected_gene': 'PURB', 'score': 25.43}, {'connected_gene': 'ZMIZ2', 'score': 16.61}, {'connected_gene': 'URGCP', 'score': 12.98}, {'connected_gene': 'ENSG00000228596', 'score': 11.51}, {'connected_gene': 'MYO1G', 'score': 10.35}, {'connected_gene': 'OGDH', 'score': 8.36}, {'connected_gene': 'DDX56', 'score': 7.92}, {'connected_gene': 'NUDCD3', 'score': 5.21}, {'connected_gene': 'TMED4', 'score': 1.75}, {'connected_gene': 'GC07M044657', 'score': 0.18}]
chr7 GH07I043728 43728400 43730872 2.06 [{'connected_gene': 'COA1', 'score': 566.65}, {'connected_gene': 'DDX56', 'score': 25.94}, {'connected_gene': 'POLM', 'score': 25.16}, {'connected_gene': 'ENSG00000228434', 'score': 21.91}, {'connected_gene': 'STK17A', 'score': 14.97}, {'connected_gene': 'BLVRA', 'score': 14.11}, {'connected_gene': 'SPDYE1', 'score': 12.28}, {'connected_gene': 'TMED4', 'score': 10.42}, {'connected_gene': 'LINC00957', 'score': 6.07}, {'connected_gene': 'GC07M043624', 'score': 0.15}]
chr7 GH07I044795 44795369 44799513 2.1 [{'connected_gene': 'PPIA', 'score': 559.23}, {'connected_gene': 'GC07P044796', 'score': 550.77}, {'connected_gene': 'LOC105375259', 'score': 550.77}, {'connected_gene': 'GC07P044797', 'score': 550.77}, {'connected_gene': 'SEPT7P2', 'score': 28.27}, {'connected_gene': 'SNORA5C', 'score': 27.21}, {'connected_gene': 'POLM', 'score': 25.78}, {'connected_gene': 'DDX56', 'score': 23.65}, {'connected_gene': 'SNORA5B', 'score': 21.07}, {'connected_gene': 'ENSG00000228434', 'score': 19.42}, {'connected_gene': 'ZMIZ2', 'score': 19.14}, {'connected_gene': 'TBRG4', 'score': 18.44}, {'connected_gene': 'SPDYE1', 'score': 18.33}, {'connected_gene': 'H2AFV', 'score': 18.19}, {'connected_gene': 'LINC01952', 'score': 11.8}, {'connected_gene': 'SNORA5A', 'score': 11.54}, {'connected_gene': 'URGCP', 'score': 10.78}, {'connected_gene': 'TMED4', 'score': 10.48}, {'connected_gene': 'MYO1G', 'score': 10.48}, {'connected_gene': 'SNHG15', 'score': 9.72}, {'connected_gene': 'LOC105375260', 'score': 0.34}]
chr7 GH07I044218 44218093 44218914 0.66 [{'connected_gene': 'DDX56', 'score': 12.17}, {'connected_gene': 'CAMK2B', 'score': 10.71}, {'connected_gene': 'TMED4', 'score': 10.35}, {'connected_gene': 'PIR57733', 'score': 0.44}]
chr7 GH07I044628 44628409 44641999 1.81 [{'connected_gene': 'DDX56', 'score': 31.05}, {'connected_gene': 'OGDH', 'score': 22.15}, {'connected_gene': 'H2AFV', 'score': 21.75}, {'connected_gene': 'SNORA5C', 'score': 21.7}, {'connected_gene': 'PURB', 'score': 19.81}, {'connected_gene': 'SNORA5B', 'score': 19.34}, {'connected_gene': 'NACAD', 'score': 18.78}, {'connected_gene': 'NUDCD3', 'score': 13.99}, {'connected_gene': 'TMED4', 'score': 12.56}, {'connected_gene': 'ENSG00000228434', 'score': 12.36}, {'connected_gene': 'SPDYE1', 'score': 12.25}, {'connected_gene': 'MYO1G', 'score': 11.73}, {'connected_gene': 'ENSG00000228596', 'score': 11.49}, {'connected_gene': 'SNHG15', 'score': 10.99}, {'connected_gene': 'LINC01952', 'score': 10.91}, {'connected_gene': 'POLM', 'score': 10.23}, {'connected_gene': 'GCK', 'score': 9.78}, {'connected_gene': 'PPIA', 'score': 4.98}, {'connected_gene': 'CCM2', 'score': 2.48}, {'connected_gene': 'ZMIZ2', 'score': 2.07}, {'connected_gene': 'GC07M044657', 'score': 0.2}]
chr7 GH07I044121 44121323 44124756 2.04 [{'connected_gene': 'POLD2', 'score': 550.77}, {'connected_gene': 'POLM', 'score': 32.92}, {'connected_gene': 'TMED4', 'score': 32.88}, {'connected_gene': 'SPDYE1', 'score': 30.09}, {'connected_gene': 'SNORA5B', 'score': 29.27}, {'connected_gene': 'ENSG00000228434', 'score': 28.81}, {'connected_gene': 'DDX56', 'score': 28.48}, {'connected_gene': 'SNORA5C', 'score': 26.14}, {'connected_gene': 'TBRG4', 'score': 18.87}, {'connected_gene': 'TUBG1P', 'score': 15.42}, {'connected_gene': 'URGCP', 'score': 11.83}, {'connected_gene': 'SNORA5A', 'score': 11.44}, {'connected_gene': 'SNHG15', 'score': 10.69}, {'connected_gene': 'NACAD', 'score': 9.84}, {'connected_gene': 'GCK', 'score': 7.72}, {'connected_gene': 'RASA4CP', 'score': 4.39}, {'connected_gene': 'MIR4649', 'score': 0.39}]
chr7 GH07I044983 44983027 44988251 1.77 [{'connected_gene': 'SNHG15', 'score': 579.1}, {'connected_gene': 'SNORA9', 'score': 550.77}, {'connected_gene': 'GC07M044985', 'score': 550.77}, {'connected_gene': 'DDX56', 'score': 25.85}, {'connected_gene': 'CCM2', 'score': 21.07}, {'connected_gene': 'POLM', 'score': 19.18}, {'connected_gene': 'SNORA5C', 'score': 18.23}, {'connected_gene': 'ENSG00000260997', 'score': 15.93}, {'connected_gene': 'TMED4', 'score': 14.8}, {'connected_gene': 'SNORA5A', 'score': 12.01}, {'connected_gene': 'SNORA5B', 'score': 11.55}, {'connected_gene': 'CICP20', 'score': 10.86}, {'connected_gene': 'RAMP3', 'score': 10.82}, {'connected_gene': 'ENSG00000228434', 'score': 10.52}, {'connected_gene': 'TBRG4', 'score': 5.1}]
chr7 GH07I044184 44184162 44185911 1.03 [{'connected_gene': 'POLM', 'score': 33.36}, {'connected_gene': 'SNORA5C', 'score': 33.05}, {'connected_gene': 'DDX56', 'score': 27.37}, {'connected_gene': 'SNORA5B', 'score': 26.14}, {'connected_gene': 'ENSG00000228434', 'score': 24.86}, {'connected_gene': 'TMED4', 'score': 23.87}, {'connected_gene': 'SNORA5A', 'score': 21.83}, {'connected_gene': 'SPDYE1', 'score': 11.07}, {'connected_gene': 'SNHG15', 'score': 10.27}, {'connected_gene': 'YKT6', 'score': 7.55}, {'connected_gene': 'GCK', 'score': 4.61}, {'connected_gene': 'LOC105375257', 'score': 0.39}]
chr7 GH07I044488 44488995 44491586 2.31 [{'connected_gene': 'NUDCD3', 'score': 580.76}, {'connected_gene': 'DDX56', 'score': 32.41}, {'connected_gene': 'TMED4', 'score': 12.48}, {'connected_gene': 'URGCP', 'score': 12.0}, {'connected_gene': 'SNORA5B', 'score': 11.02}, {'connected_gene': 'SNORA5C', 'score': 10.77}, {'connected_gene': 'PURB', 'score': 9.82}, {'connected_gene': 'GC07M044473', 'score': 0.37}, {'connected_gene': 'GC07M044472', 'score': 0.37}]
chr7 GH07I044580 44580315 44583561 2.23 [{'connected_gene': 'TMED4', 'score': 550.77}, {'connected_gene': 'GC07P044583', 'score': 550.77}, {'connected_gene': 'PIR35616', 'score': 550.77}, {'connected_gene': 'PIR31244', 'score': 550.77}, {'connected_gene': 'GC07P044582', 'score': 550.77}, {'connected_gene': 'DDX56', 'score': 20.45}, {'connected_gene': 'SNORA5C', 'score': 12.68}, {'connected_gene': 'ENSG00000228434', 'score': 12.36}, {'connected_gene': 'SPDYE1', 'score': 12.25}, {'connected_gene': 'SNHG15', 'score': 10.98}, {'connected_gene': 'POLM', 'score': 10.25}, {'connected_gene': 'SNORA5B', 'score': 10.02}, {'connected_gene': 'NUDCD3', 'score': 5.27}, {'connected_gene': 'PIR40932', 'score': 0.77}, {'connected_gene': 'GC07M044579', 'score': 0.77}]
chr7 GH07I044712 44712844 44714089 0.31 [{'connected_gene': 'TMED4', 'score': 4.37}, {'connected_gene': 'GC07M044657', 'score': 0.44}, {'connected_gene': 'GC07P044747', 'score': 0.29}]
chr7 GH07I044845 44845500 44849667 2.12 [{'connected_gene': 'LINC01952', 'score': 550.77}, {'connected_gene': 'H2AFV', 'score': 550.77}, {'connected_gene': 'CICP20', 'score': 68.11}, {'connected_gene': 'DDX56', 'score': 46.55}, {'connected_gene': 'SNORA5C', 'score': 41.11}, {'connected_gene': 'POLM', 'score': 39.05}, {'connected_gene': 'SNORA5B', 'score': 32.01}, {'connected_gene': 'ENSG00000228434', 'score': 29.96}, {'connected_gene': 'SPDYE1', 'score': 28.7}, {'connected_gene': 'TMED4', 'score': 22.39}, {'connected_gene': 'SNHG15', 'score': 20.77}, {'connected_gene': 'SNORA5A', 'score': 20.11}, {'connected_gene': 'TBRG4', 'score': 18.45}, {'connected_gene': 'URGCP', 'score': 12.0}, {'connected_gene': 'SEPT7P2', 'score': 10.15}, {'connected_gene': 'PURB', 'score': 10.04}, {'connected_gene': 'PPIA', 'score': 7.12}, {'connected_gene': 'ZMIZ2', 'score': 5.98}, {'connected_gene': 'PIR39901', 'score': 0.37}]
chr7 GH07I044111 44111614 44114056 1 [{'connected_gene': 'MIR4649', 'score': 550.77}, {'connected_gene': 'DDX56', 'score': 16.53}, {'connected_gene': 'POLM', 'score': 12.07}, {'connected_gene': 'SNORA5C', 'score': 11.99}, {'connected_gene': 'ENSG00000228434', 'score': 11.61}, {'connected_gene': 'TMED4', 'score': 11.14}, {'connected_gene': 'SNHG15', 'score': 10.68}, {'connected_gene': 'SNORA5A', 'score': 10.06}, {'connected_gene': 'SPDYE1', 'score': 9.92}, {'connected_gene': 'SNORA5B', 'score': 9.71}, {'connected_gene': 'GCK', 'score': 8.23}, {'connected_gene': 'AEBP1', 'score': 0.44}, {'connected_gene': 'POLD2', 'score': 0.39}]
chr7 GH07I044993 44993846 44997284 1.19 [{'connected_gene': 'ENSG00000260997', 'score': 15.93}, {'connected_gene': 'CCM2', 'score': 11.71}, {'connected_gene': 'SNHG15', 'score': 10.67}, {'connected_gene': 'TMED4', 'score': 4.73}, {'connected_gene': 'LOC102723334', 'score': 0.77}]
chr7 GH07I043734 43734388 43736794 1.17 [{'connected_gene': 'PIR57316', 'score': 550.77}, {'connected_gene': 'BLVRA', 'score': 28.92}, {'connected_gene': 'COA1', 'score': 16.29}, {'connected_gene': 'STK17A', 'score': 14.89}, {'connected_gene': 'DDX56', 'score': 12.78}, {'connected_gene': 'TMED4', 'score': 12.35}, {'connected_gene': 'MRPL32', 'score': 10.38}, {'connected_gene': 'LINC00957', 'score': 6.08}]
chr7 GH07I044961 44961916 44963864 0.76 [{'connected_gene': 'ENSG00000260997', 'score': 550.77}, {'connected_gene': 'PURB', 'score': 15.43}, {'connected_gene': 'SEPT7P2', 'score': 14.3}, {'connected_gene': 'DDX56', 'score': 12.17}, {'connected_gene': 'ENSG00000228596', 'score': 10.57}, {'connected_gene': 'TMED4', 'score': 10.35}, {'connected_gene': 'MYO1G', 'score': 5.06}]
chr7 GH07I044695 44695581 44698352 0.2 [{'connected_gene': 'ENSG00000228596', 'score': 11.73}, {'connected_gene': 'TMED4', 'score': 4.98}, {'connected_gene': 'NUDCD3', 'score': 4.77}, {'connected_gene': 'GC07M044657', 'score': 0.44}, {'connected_gene': 'OGDH', 'score': 0.16}]

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