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
ENST00000450253 [[99792834, 99802293], [99806072, 99806212], [99808229, 99808343], [99809039, 99809103], [99812387, 99812483], [99823026, 99823133], [99850245, 99851788]] [[99802178, 99802293], [99806072, 99806212], [99808229, 99808343], [99809039, 99809103], [99812387, 99812483], [99823026, 99823133], [99850245, 99850263]]
ENST00000280892 [[99801915, 99802293], [99806072, 99806212], [99808229, 99808343], [99809039, 99809103], [99812387, 99812483], [99823026, 99823133], [99850045, 99850243]] [[99802178, 99802293], [99806072, 99806212], [99808229, 99808343], [99809039, 99809103], [99812387, 99812483], [99823026, 99823133], [99850045, 99850123]]
ENST00000515638 [[99801922, 99802293], [99806072, 99806212], [99808229, 99808318], [99823026, 99823133], [99850245, 99850276]] [[99808314, 99808318], [99823026, 99823133], [99850245, 99850263]]
ENST00000511644 [[99801995, 99802293], [99808229, 99808343], [99809039, 99809103], [99812387, 99812483], [99823026, 99823133], [99850245, 99850252]] [[99802215, 99802293], [99808229, 99808343], [99809039, 99809103], [99812387, 99812483], [99823026, 99823133], [99850245, 99850252]]
ENST00000504432 [[99801995, 99802293], [99806072, 99806212], [99808229, 99808343], [99809039, 99809103], [99812387, 99812483], [99823026, 99823133], [99830828, 99831110], [99850245, 99850276]] [[99802178, 99802293], [99806072, 99806212], [99808229, 99808343], [99809039, 99809103], [99812387, 99812483], [99823026, 99823133], [99830828, 99830930]]
ENST00000505992 [[99802048, 99802293], [99806072, 99806212], [99807604, 99807697], [99808229, 99808343], [99809039, 99809103], [99812387, 99812483], [99823026, 99823133], [99850245, 99850284]] [[99802178, 99802293], [99806072, 99806212], [99807604, 99807697], [99808229, 99808343], [99809039, 99809103], [99812387, 99812483], [99823026, 99823133], [99850245, 99850263]]
ENST00000505194 [[99802160, 99802293], [99806072, 99806212], [99808229, 99808343], [99809039, 99809103], [99811937, 99812049]] None
ENST00000507665 [[99807501, 99808343], [99809039, 99809103], [99812387, 99812483], [99823026, 99823133], [99850245, 99850279]] None
ENST00000505829 [[99808313, 99808343], [99809039, 99809103], [99812387, 99812722]] None
ENST00000504472 [[99816272, 99816714], [99823026, 99823133], [99850245, 99850284]] None
ENST00000418385 [[99847122, 99847665], [99850245, 99850276]] None
NM_001130678 [[99792834, 99802293], [99806072, 99806212], [99808229, 99808343], [99809039, 99809103], [99812387, 99812483], [99823026, 99823133], [99850045, 99850243]] [[99802178, 99802293], [99806072, 99806212], [99808229, 99808343], [99809039, 99809103], [99812387, 99812483], [99823026, 99823133], [99850045, 99850123]]
NM_001331017 [[99792834, 99802293], [99806072, 99806212], [99808229, 99808343], [99809039, 99809103], [99812387, 99812483], [99823026, 99823133], [99830828, 99831110], [99850245, 99851788]] [[99802178, 99802293], [99806072, 99806212], [99808229, 99808343], [99809039, 99809103], [99812387, 99812483], [99823026, 99823133], [99830828, 99830930]]
NM_001130679 [[99792834, 99802293], [99806072, 99806212], [99807604, 99807697], [99808229, 99808343], [99809039, 99809103], [99812387, 99812483], [99823026, 99823133], [99850245, 99851788]] [[99802178, 99802293], [99806072, 99806212], [99807604, 99807697], [99808229, 99808343], [99809039, 99809103], [99812387, 99812483], [99823026, 99823133], [99850245, 99850263]]
NM_001968 [[99792834, 99802293], [99806072, 99806212], [99808229, 99808343], [99809039, 99809103], [99812387, 99812483], [99823026, 99823133], [99850245, 99851788]] [[99802178, 99802293], [99806072, 99806212], [99808229, 99808343], [99809039, 99809103], [99812387, 99812483], [99823026, 99823133], [99850245, 99850263]]
Promoter
Chrom Start End Description
chr4 99850268 99850302 CAGE_peak_1_at_EIF4E_5end
chr4 99850947 99850957 CAGE_peak_7_at_EIF4E_5end
chr4 99850976 99850998 CAGE_peak_4_at_EIF4E_5end
chr4 99851024 99851056 CAGE_peak_2_at_EIF4E_5end
chr4 99851766 99851780 CAGE_peak_12_at_EIF4E_5end
chr4 99851800 99851807 CAGE_peak_13_at_EIF4E_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I098994 98994326 98999450 2.24 [{'connected_gene': 'METAP1', 'score': 550.77}, {'connected_gene': 'MIR3684', 'score': 550.77}, {'connected_gene': 'ENSG00000272777', 'score': 27.97}, {'connected_gene': 'LOC100507053', 'score': 20.32}, {'connected_gene': 'EIF4E', 'score': 16.14}, {'connected_gene': 'ADH5', 'score': 11.14}, {'connected_gene': 'RNU7-149P', 'score': 11.02}, {'connected_gene': 'ADH1A', 'score': 4.63}, {'connected_gene': 'ADH4', 'score': 4.5}, {'connected_gene': 'ENSG00000263923', 'score': 0.2}]
chr4 GH04I098938 98938400 98938800 0.38 [{'connected_gene': 'EIF4E', 'score': 0.44}, {'connected_gene': 'ENSG00000263923', 'score': 0.44}, {'connected_gene': 'FAM177A1P1', 'score': 0.37}]
chr4 GH04I098939 98939930 98940079 0.57 [{'connected_gene': 'EIF4E', 'score': 0.44}, {'connected_gene': 'ENSG00000263923', 'score': 0.39}, {'connected_gene': 'FAM177A1P1', 'score': 0.37}]
chr4 GH04I098931 98931401 98931800 0.31 [{'connected_gene': 'EIF4E', 'score': 550.77}, {'connected_gene': 'ENSG00000263923', 'score': 0.77}, {'connected_gene': 'FAM177A1P1', 'score': 0.34}]
chr4 GH04I098932 98932001 98932200 0.31 [{'connected_gene': 'EIF4E', 'score': 550.77}, {'connected_gene': 'ENSG00000263923', 'score': 0.77}, {'connected_gene': 'FAM177A1P1', 'score': 0.34}]
chr4 GH04I098905 98905401 98905600 0.31 [{'connected_gene': 'EIF4E', 'score': 12.53}, {'connected_gene': 'RAP1GDS1', 'score': 9.45}, {'connected_gene': 'ENSG00000214559', 'score': 9.45}, {'connected_gene': 'TBCAP3', 'score': 0.77}, {'connected_gene': 'GC04P098880', 'score': 0.31}]
chr4 GH04I098933 98932401 98933400 1.07 [{'connected_gene': 'EIF4E', 'score': 12.97}, {'connected_gene': 'ENSG00000272777', 'score': 12.53}, {'connected_gene': 'LOC100507053', 'score': 4.94}, {'connected_gene': 'ENSG00000263923', 'score': 0.77}, {'connected_gene': 'FAM177A1P1', 'score': 0.34}]
chr4 GH04I098927 98927121 98931144 2.33 [{'connected_gene': 'EIF4E', 'score': 556.33}, {'connected_gene': 'ENSG00000263923', 'score': 550.77}, {'connected_gene': 'ENSG00000272777', 'score': 12.53}, {'connected_gene': 'LOC100507053', 'score': 4.94}, {'connected_gene': 'RAP1GDS1', 'score': 4.16}]
chr4 GH04I098909 98909801 98910000 0.38 [{'connected_gene': 'TBCAP3', 'score': 550.77}, {'connected_gene': 'EIF4E', 'score': 12.56}, {'connected_gene': 'RAP1GDS1', 'score': 9.44}, {'connected_gene': 'ENSG00000214559', 'score': 9.44}, {'connected_gene': 'GC04P098880', 'score': 0.31}]
chr4 GH04I099022 99022801 99026111 1.03 [{'connected_gene': 'ABT1P1', 'score': 550.77}, {'connected_gene': 'ENSG00000272777', 'score': 28.04}, {'connected_gene': 'LOC100507053', 'score': 7.8}, {'connected_gene': 'EIF4E', 'score': 5.8}, {'connected_gene': 'ADH5', 'score': 5.53}, {'connected_gene': 'METAP1', 'score': 0.31}]
chr4 GH04I099013 99013302 99014179 0.85 [{'connected_gene': 'ENSG00000272777', 'score': 26.35}, {'connected_gene': 'EIF4E', 'score': 5.89}, {'connected_gene': 'ABT1P1', 'score': 0.44}, {'connected_gene': 'METAP1', 'score': 0.37}, {'connected_gene': 'MIR3684', 'score': 0.37}]
chr4 GH04I098880 98880023 98880245 0.4 [{'connected_gene': 'GC04P098880', 'score': 550.77}, {'connected_gene': 'GC04M098880', 'score': 550.77}, {'connected_gene': 'GC04M098881', 'score': 550.77}, {'connected_gene': 'GC04M098882', 'score': 550.77}, {'connected_gene': 'GC04M098872', 'score': 0.44}, {'connected_gene': 'EIF4E', 'score': 0.23}]

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