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
ENST00000316881 [[54965269, 54969590], [54972703, 54972802], [54972881, 54972965], [54973286, 54973313], [54976475, 54976541], [54978779, 54978939], [54981615, 54981849], [54985828, 54985924], [54990752, 54991399]] [[54969060, 54969590], [54972703, 54972802], [54972881, 54972965], [54973286, 54973313], [54976475, 54976541], [54978779, 54978939], [54981615, 54981849], [54985828, 54985924], [54990752, 54991349]]
ENST00000573108 [[54967881, 54968661], [54968715, 54968887]] None
ENST00000537230 [[54968635, 54968661], [54968724, 54969590], [54972703, 54972802], [54972881, 54972965], [54973286, 54973313], [54976475, 54976541], [54978779, 54978939], [54981615, 54981849], [54985828, 54985924], [54990752, 54991388]] [[54969060, 54969590], [54972703, 54972802], [54972881, 54972965], [54973286, 54973313], [54976475, 54976541], [54978779, 54978939], [54981615, 54981849], [54985828, 54985924], [54990752, 54991349]]
ENST00000572021 [[54968943, 54969590], [54972703, 54972802], [54972881, 54972965], [54973286, 54973313], [54976475, 54976541], [54978779, 54978939], [54981615, 54981849], [54985828, 54985924], [54989465, 54989526], [54990752, 54990833]] [[54989475, 54989526], [54990752, 54990833]]
ENST00000574234 [[54969472, 54969590], [54972703, 54972802], [54972881, 54973135]] None
ENST00000570473 [[54973130, 54973313], [54976475, 54976541], [54978779, 54978939], [54981615, 54981704]] None
ENST00000570749 [[54976321, 54976541], [54978779, 54978939], [54981615, 54981849]] None
ENST00000572550 [[54978787, 54978939], [54981615, 54981849], [54985828, 54985924], [54986107, 54986144]] None
ENST00000574997 [[54985843, 54985924], [54990119, 54990478]] None
NM_005082 [[54965269, 54969590], [54972703, 54972802], [54972881, 54972965], [54973286, 54973313], [54976475, 54976541], [54978779, 54978939], [54981615, 54981849], [54985828, 54985924], [54990752, 54991409]] [[54969060, 54969590], [54972703, 54972802], [54972881, 54972965], [54973286, 54973313], [54976475, 54976541], [54978779, 54978939], [54981615, 54981849], [54985828, 54985924], [54990752, 54991349]]
Promoter
Chrom Start End Description
chr17 54991255 54991266 CAGE_peak_4_at_TRIM25_5end
chr17 54991369 54991386 CAGE_peak_2_at_TRIM25_5end
chr17 54991395 54991453 CAGE_peak_1_at_TRIM25_5end
chr17 54991800 54991803 CAGE_peak_8_at_TRIM25_5end
chr17 54991812 54991826 CAGE_peak_3_at_TRIM25_5end
chr17 54991844 54991855 CAGE_peak_5_at_TRIM25_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I056777 56777978 56778161 0.24 [{'connected_gene': 'NOG', 'score': 11.07}, {'connected_gene': 'TRIM25', 'score': 6.43}, {'connected_gene': 'SCPEP1', 'score': 4.26}, {'connected_gene': 'GC17M056765', 'score': 0.44}, {'connected_gene': 'GC17M056800', 'score': 0.34}, {'connected_gene': 'GC17M056657', 'score': 0.15}]
chr17 GH17I056911 56911602 56918381 2.66 [{'connected_gene': 'TRIM25', 'score': 575.96}, {'connected_gene': 'ENSG00000274213', 'score': 550.77}, {'connected_gene': 'DGKE', 'score': 23.59}, {'connected_gene': 'ENSG00000262298', 'score': 22.1}, {'connected_gene': 'SCPEP1', 'score': 17.48}]
chr17 GH17I056909 56909814 56911077 1.48 [{'connected_gene': 'TRIM25', 'score': 28.21}, {'connected_gene': 'SCPEP1', 'score': 16.32}, {'connected_gene': 'MIR3614', 'score': 0.37}]
chr17 GH17I056918 56918601 56919800 1.47 [{'connected_gene': 'TRIM25', 'score': 19.95}, {'connected_gene': 'SCPEP1', 'score': 5.21}, {'connected_gene': 'ENSG00000274213', 'score': 0.44}, {'connected_gene': 'ENSG00000262298', 'score': 0.34}]
chr17 GH17I056919 56919880 56919999 0.59 [{'connected_gene': 'TRIM25', 'score': 21.65}, {'connected_gene': 'SCPEP1', 'score': 3.89}, {'connected_gene': 'ENSG00000274213', 'score': 0.44}, {'connected_gene': 'ENSG00000262298', 'score': 0.37}]
chr17 GH17I056893 56893385 56894343 0.43 [{'connected_gene': 'TRIM25', 'score': 12.58}, {'connected_gene': 'C17orf67', 'score': 10.93}, {'connected_gene': 'MIR3614', 'score': 0.77}]
chr17 GH17I056819 56819601 56820199 1.29 [{'connected_gene': 'TRIM25', 'score': 11.99}, {'connected_gene': 'PIR41486', 'score': 0.39}, {'connected_gene': 'C17orf67', 'score': 0.37}, {'connected_gene': 'ENSG00000283209', 'score': 0.37}, {'connected_gene': 'GC17M056657', 'score': 0.22}]
chr17 GH17I057471 57471463 57479247 1.19 [{'connected_gene': 'TRIM25', 'score': 11.86}, {'connected_gene': 'ENSG00000279281', 'score': 0.31}, {'connected_gene': 'LOC101927557', 'score': 0.25}, {'connected_gene': 'MSI2', 'score': 0.08}]
chr17 GH17I056910 56909720 56909804 0.58 [{'connected_gene': 'TRIM25', 'score': 0.77}, {'connected_gene': 'MIR3614', 'score': 0.37}]
chr17 GH17I057648 57648675 57651729 1.11 [{'connected_gene': 'SRSF1', 'score': 53.98}, {'connected_gene': 'MKS1', 'score': 46.65}, {'connected_gene': 'ENSG00000262298', 'score': 31.75}, {'connected_gene': 'COIL', 'score': 27.63}, {'connected_gene': 'TSPOAP1', 'score': 13.19}, {'connected_gene': 'DGKE', 'score': 12.93}, {'connected_gene': 'TRIM25', 'score': 11.86}, {'connected_gene': 'RNU7-134P', 'score': 11.47}, {'connected_gene': 'VEZF1', 'score': 9.89}, {'connected_gene': 'GC17P057653', 'score': 0.77}, {'connected_gene': 'GC17P057625', 'score': 0.34}, {'connected_gene': 'MSI2', 'score': 0.05}]
chr17 GH17I056907 56907812 56909478 0.86 [{'connected_gene': 'SCPEP1', 'score': 7.05}, {'connected_gene': 'TRIM25', 'score': 0.44}, {'connected_gene': 'MIR3614', 'score': 0.37}]
chr17 GH17I056784 56784747 56788329 1.6 [{'connected_gene': 'C17orf67', 'score': 17.08}, {'connected_gene': 'NOG', 'score': 10.97}, {'connected_gene': 'TRIM25', 'score': 8.71}, {'connected_gene': 'SCPEP1', 'score': 6.4}, {'connected_gene': 'GC17M056800', 'score': 0.37}, {'connected_gene': 'GC17M056765', 'score': 0.37}, {'connected_gene': 'GC17M056657', 'score': 0.17}]
chr17 GH17I056903 56903790 56905176 0.38 [{'connected_gene': 'RNU6-1158P', 'score': 11.41}, {'connected_gene': 'C17orf67', 'score': 11.22}, {'connected_gene': 'TRIM25', 'score': 0.44}, {'connected_gene': 'MIR3614', 'score': 0.39}]
chr17 GH17I056901 56901335 56903173 0.79 [{'connected_gene': 'RNU6-1158P', 'score': 12.23}, {'connected_gene': 'C17orf67', 'score': 11.66}, {'connected_gene': 'SCPEP1', 'score': 7.93}, {'connected_gene': 'TRIM25', 'score': 0.39}, {'connected_gene': 'MIR3614', 'score': 0.39}]
chr17 GH17I056898 56898529 56900088 0.46 [{'connected_gene': 'RNU6-1158P', 'score': 12.24}, {'connected_gene': 'C17orf67', 'score': 11.66}, {'connected_gene': 'SCPEP1', 'score': 8.87}, {'connected_gene': 'MIR3614', 'score': 0.44}, {'connected_gene': 'TRIM25', 'score': 0.39}]
chr17 GH17I056897 56897680 56897829 0.66 [{'connected_gene': 'RNU6-1158P', 'score': 12.24}, {'connected_gene': 'C17orf67', 'score': 11.67}, {'connected_gene': 'MIR3614', 'score': 0.44}, {'connected_gene': 'TRIM25', 'score': 0.37}]
chr17 GH17I056899 56897151 56897249 0.4 [{'connected_gene': 'RNU6-1158P', 'score': 12.24}, {'connected_gene': 'C17orf67', 'score': 11.67}, {'connected_gene': 'MIR3614', 'score': 0.44}, {'connected_gene': 'TRIM25', 'score': 0.37}]
chr17 GH17I056889 56889978 56892240 0.67 [{'connected_gene': 'MIR3614', 'score': 550.77}, {'connected_gene': 'TRIM25', 'score': 12.58}, {'connected_gene': 'C17orf67', 'score': 11.23}, {'connected_gene': 'SCPEP1', 'score': 10.64}, {'connected_gene': 'ENSG00000262112', 'score': 0.77}]
chr17 GH17I056885 56885709 56888329 1.05 [{'connected_gene': 'ENSG00000262112', 'score': 550.77}, {'connected_gene': 'ENSG00000262298', 'score': 13.18}, {'connected_gene': 'C17orf67', 'score': 10.97}, {'connected_gene': 'MTVR2', 'score': 0.77}, {'connected_gene': 'TRIM25', 'score': 0.31}]
chr17 GH17I056869 56869951 56870402 0.65 [{'connected_gene': 'PIR52664', 'score': 550.77}, {'connected_gene': 'RNU6-1158P', 'score': 550.77}, {'connected_gene': 'GC17P056869', 'score': 550.77}, {'connected_gene': 'GC17P056872', 'score': 550.77}, {'connected_gene': 'TRIM25', 'score': 9.13}, {'connected_gene': 'SCPEP1', 'score': 4.3}, {'connected_gene': 'GC17M056657', 'score': 0.44}, {'connected_gene': 'GC17P056857', 'score': 0.39}]
chr17 GH17I056890 56889297 56889804 0.38 [{'connected_gene': 'ENSG00000262112', 'score': 550.77}, {'connected_gene': 'MIR3614', 'score': 550.77}, {'connected_gene': 'C17orf67', 'score': 11.23}, {'connected_gene': 'SCPEP1', 'score': 10.64}, {'connected_gene': 'TRIM25', 'score': 0.34}]