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
ENST00000468542 [[160156788, 160156974], [160203146, 160203561]] [[160156788, 160156974], [160203146, 160203164]]
ENST00000543469 [[160150232, 160153680], [160156019, 160156974], [160166513, 160166725]] [[160153660, 160153680], [160156019, 160156971]]
ENST00000309784 [[160153290, 160156974], [160166513, 160166583], [160167504, 160167617]] [[160155759, 160156971]]
ENST00000479460 [[160156438, 160156974], [160166513, 160166583], [160167259, 160167513]] [[160156438, 160156971]]
ENST00000471396 [[160156506, 160156974], [160167471, 160167551]] [[160156506, 160156971]]
ENST00000496222 [[160156518, 160156974], [160166513, 160166583], [160167471, 160167548]] [[160156518, 160156974], [160166513, 160166583], [160167471, 160167482]]
ENST00000471155 [[160156628, 160156974], [160165519, 160165630], [160166513, 160166583], [160167504, 160167553]] [[160156628, 160156971]]
ENST00000494486 [[160156636, 160156974], [160166513, 160166583], [160167232, 160167401]] [[160156636, 160156971]]
NM_173084 [[160153290, 160156974], [160166513, 160166583], [160167504, 160167626]] [[160155759, 160156971]]
Promoter
Chrom Start End Description
chr3 160167301 160167369 CAGE_peak_2_at_TRIM59_5end
chr3 160167508 160167517 CAGE_peak_5_at_TRIM59_5end
chr3 160167525 160167536 CAGE_peak_3_at_TRIM59_5end
chr3 160167540 160167598 CAGE_peak_1_at_TRIM59_5end
chr3 160203278 160203289 CAGE_peak_8_at_TRIM59_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I160506 160506662 160508197 0.77 [{'connected_gene': 'SCARNA7', 'score': 0.44}, {'connected_gene': 'GC03M160515', 'score': 0.44}, {'connected_gene': 'TRIM59', 'score': 0.34}, {'connected_gene': 'KPNA4', 'score': 0.22}]
chr3 GH03I160500 160500179 160500542 0.4 [{'connected_gene': 'SCARNA7', 'score': 0.39}, {'connected_gene': 'GC03M160515', 'score': 0.39}, {'connected_gene': 'TRIM59', 'score': 0.39}, {'connected_gene': 'KPNA4', 'score': 0.2}]
chr3 GH03I160501 160501803 160502015 0.4 [{'connected_gene': 'SCARNA7', 'score': 0.39}, {'connected_gene': 'GC03M160515', 'score': 0.39}, {'connected_gene': 'TRIM59', 'score': 0.37}, {'connected_gene': 'KPNA4', 'score': 0.21}]
chr3 GH03I160461 160461153 160467966 0.31 [{'connected_gene': 'B3GAT3P1', 'score': 12.61}, {'connected_gene': 'TRIM59', 'score': 12.2}, {'connected_gene': 'SCARNA7', 'score': 10.74}, {'connected_gene': 'IFT80', 'score': 7.64}, {'connected_gene': 'SMC4', 'score': 6.09}, {'connected_gene': 'SPTSSB', 'score': 4.8}, {'connected_gene': 'GC03M160475', 'score': 0.44}, {'connected_gene': 'GC03P160455', 'score': 0.39}, {'connected_gene': 'PIR52189', 'score': 0.39}, {'connected_gene': 'GC03P160454', 'score': 0.39}]
chr3 GH03I160454 160454460 160456502 0.2 [{'connected_gene': 'B3GAT3P1', 'score': 12.68}, {'connected_gene': 'TRIM59', 'score': 12.44}, {'connected_gene': 'SCARNA7', 'score': 10.33}, {'connected_gene': 'IFT80', 'score': 7.83}, {'connected_gene': 'SMC4', 'score': 6.11}, {'connected_gene': 'GC03P160455', 'score': 0.77}, {'connected_gene': 'PIR52189', 'score': 0.77}, {'connected_gene': 'GC03P160454', 'score': 0.77}, {'connected_gene': 'GC03M160475', 'score': 0.37}]
chr3 GH03I160452 160452206 160454097 0.52 [{'connected_gene': 'B3GAT3P1', 'score': 560.19}, {'connected_gene': 'GC03P160455', 'score': 550.77}, {'connected_gene': 'PIR52189', 'score': 550.77}, {'connected_gene': 'GC03P160454', 'score': 550.77}, {'connected_gene': 'TRIM59', 'score': 12.44}, {'connected_gene': 'SCARNA7', 'score': 10.32}, {'connected_gene': 'IFT80', 'score': 6.96}, {'connected_gene': 'GC03M160475', 'score': 0.37}]
chr3 GH03I160457 160457440 160459298 0.56 [{'connected_gene': 'TRIM59', 'score': 12.46}, {'connected_gene': 'SCARNA7', 'score': 10.33}, {'connected_gene': 'B3GAT3P1', 'score': 8.69}, {'connected_gene': 'IFT80', 'score': 7.05}, {'connected_gene': 'GC03P160455', 'score': 0.44}, {'connected_gene': 'PIR52189', 'score': 0.44}, {'connected_gene': 'GC03P160454', 'score': 0.44}, {'connected_gene': 'GC03M160475', 'score': 0.39}]
chr3 GH03I160460 160460142 160460390 0.55 [{'connected_gene': 'TRIM59', 'score': 11.77}, {'connected_gene': 'SCARNA7', 'score': 10.54}, {'connected_gene': 'GC03P160455', 'score': 0.44}, {'connected_gene': 'PIR52189', 'score': 0.44}, {'connected_gene': 'GC03P160454', 'score': 0.44}, {'connected_gene': 'GC03M160475', 'score': 0.39}]
chr3 GH03I160486 160486600 160486800 0.54 [{'connected_gene': 'TRIM59', 'score': 550.77}, {'connected_gene': 'SCARNA7', 'score': 0.31}, {'connected_gene': 'GC03M160515', 'score': 0.31}]
chr3 GH03I160485 160485401 160486400 0.76 [{'connected_gene': 'TRIM59', 'score': 550.77}, {'connected_gene': 'SCARNA7', 'score': 0.31}, {'connected_gene': 'GC03M160515', 'score': 0.31}]
chr3 GH03I160446 160446801 160452078 2.46 [{'connected_gene': 'TRIM59', 'score': 562.42}, {'connected_gene': 'ENSG00000248710', 'score': 550.77}, {'connected_gene': 'RPL23AP42', 'score': 26.1}, {'connected_gene': 'B3GAT3P1', 'score': 13.98}, {'connected_gene': 'SCARNA7', 'score': 10.32}, {'connected_gene': 'SMC4', 'score': 6.12}, {'connected_gene': 'GC03P160415', 'score': 0.28}]
chr3 GH03I160472 160472769 160475191 0.54 [{'connected_gene': 'RNU7-136P', 'score': 550.77}, {'connected_gene': 'GC03M160475', 'score': 550.77}, {'connected_gene': 'B3GAT3P1', 'score': 12.11}, {'connected_gene': 'TRIM59', 'score': 0.39}]
chr3 GH03I160444 160444593 160444742 0.77 [{'connected_gene': 'ENSG00000248710', 'score': 0.44}, {'connected_gene': 'GC03P160415', 'score': 0.29}, {'connected_gene': 'TRIM59', 'score': 0.26}]