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
ENST00000367833 [[168148170, 168148419], [168153139, 168153319], [168154016, 168154116], [168160606, 168160738], [168165784, 168165880], [168168156, 168168219], [168169140, 168169950]] [[168148315, 168148419], [168153139, 168153319], [168154016, 168154116], [168160606, 168160738], [168165784, 168165880], [168168156, 168168219], [168169140, 168169284]]
ENST00000367830 [[168148292, 168148419], [168153139, 168153319], [168154016, 168154116], [168160606, 168160738], [168161445, 168161633]] [[168148315, 168148419], [168153139, 168153319], [168154016, 168154116], [168160606, 168160738], [168161445, 168161466]]
NM_152902 [[168148082, 168148419], [168153139, 168153319], [168154016, 168154116], [168160606, 168160738], [168165784, 168165880], [168168156, 168168219], [168169140, 168171352]] [[168148315, 168148419], [168153139, 168153319], [168154016, 168154116], [168160606, 168160738], [168165784, 168165880], [168168156, 168168219], [168169140, 168169284]]
NM_001031800 [[168148082, 168148419], [168153139, 168153319], [168154016, 168154116], [168160606, 168160738], [168161445, 168161633]] [[168148315, 168148419], [168153139, 168153319], [168154016, 168154116], [168160606, 168160738], [168161445, 168161466]]
Promoter
Chrom Start End Description
chr1 168148169 168148221 CAGE_peak_1_at_TIPRL_5end
chr1 168148230 168148263 CAGE_peak_2_at_TIPRL_5end
chr1 168148273 168148292 CAGE_peak_3_at_TIPRL_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I167718 167718603 167723680 2.42 [{'connected_gene': 'MPZL1', 'score': 558.33}, {'connected_gene': 'GC01M167719', 'score': 550.77}, {'connected_gene': 'ENSG00000232194', 'score': 10.69}, {'connected_gene': 'ENSG00000250762', 'score': 10.69}, {'connected_gene': 'TIPRL', 'score': 10.29}]
chr1 GH01I167875 167875160 167875832 0.46 [{'connected_gene': 'ADCY10', 'score': 11.29}, {'connected_gene': 'MPC2', 'score': 7.26}, {'connected_gene': 'TIPRL', 'score': 4.72}, {'connected_gene': 'GC01P167854', 'score': 0.34}]
chr1 GH01I168708 168708213 168710954 1.07 [{'connected_gene': 'C1orf112', 'score': 24.75}, {'connected_gene': 'TIPRL', 'score': 10.27}, {'connected_gene': 'LOC101928596', 'score': 9.75}, {'connected_gene': 'ATP1B1', 'score': 9.75}, {'connected_gene': 'CCDC181', 'score': 5.34}, {'connected_gene': 'DPT', 'score': 5.22}, {'connected_gene': 'GC01M168701', 'score': 0.39}, {'connected_gene': 'LOC105371604', 'score': 0.26}]
chr1 GH01I168225 168225003 168229211 2.07 [{'connected_gene': 'SFT2D2', 'score': 550.77}, {'connected_gene': 'TBX19', 'score': 17.5}, {'connected_gene': 'RNU6-1310P', 'score': 11.43}, {'connected_gene': 'TIPRL', 'score': 10.84}, {'connected_gene': 'MPZL1', 'score': 10.7}, {'connected_gene': 'GC01P168246', 'score': 0.37}, {'connected_gene': 'PIR32870', 'score': 0.37}, {'connected_gene': 'GC01M168113', 'score': 0.09}]
chr1 GH01I168177 168177846 168180792 2.37 [{'connected_gene': 'TIPRL', 'score': 561.68}, {'connected_gene': 'MPZL1', 'score': 31.53}, {'connected_gene': 'POU2F1', 'score': 10.39}, {'connected_gene': 'GPR161', 'score': 7.47}, {'connected_gene': 'MPC2', 'score': 5.24}, {'connected_gene': 'RPL34P1', 'score': 0.29}, {'connected_gene': 'GC01M168113', 'score': 0.08}]
chr1 GH01I168145 168145401 168146619 0.94 [{'connected_gene': 'TIPRL', 'score': 22.58}, {'connected_gene': 'SFT2D2', 'score': 10.03}, {'connected_gene': 'MPZL1', 'score': 9.73}, {'connected_gene': 'TBX19', 'score': 9.5}, {'connected_gene': 'GPR161', 'score': 0.44}, {'connected_gene': 'GC01M168113', 'score': 0.07}]
chr1 GH01I168202 168202530 168204098 0.94 [{'connected_gene': 'TIPRL', 'score': 23.65}, {'connected_gene': 'SFT2D2', 'score': 12.49}, {'connected_gene': 'MPC2', 'score': 5.35}, {'connected_gene': 'RPL34P1', 'score': 0.44}, {'connected_gene': 'GC01M168113', 'score': 0.08}]
chr1 GH01I168146 168146723 168146872 0.52 [{'connected_gene': 'TIPRL', 'score': 11.02}, {'connected_gene': 'GPR161', 'score': 0.44}, {'connected_gene': 'GC01M168113', 'score': 0.07}]
chr1 GH01I168148 168148801 168149315 0.38 [{'connected_gene': 'TIPRL', 'score': 18.09}, {'connected_gene': 'GPR161', 'score': 0.39}, {'connected_gene': 'GC01M168113', 'score': 0.07}]
chr1 GH01I168121 168121072 168122352 1.01 [{'connected_gene': 'GPR161', 'score': 550.37}, {'connected_gene': 'TBX19', 'score': 9.3}, {'connected_gene': 'MPC2', 'score': 7.87}, {'connected_gene': 'TIPRL', 'score': 4.93}, {'connected_gene': 'GC01M168079', 'score': 0.26}, {'connected_gene': 'GC01M168113', 'score': 0.06}]
chr1 GH01I168135 168135589 168137870 1.87 [{'connected_gene': 'GPR161', 'score': 550.77}, {'connected_gene': 'TIPRL', 'score': 19.96}, {'connected_gene': 'SFT2D2', 'score': 10.47}, {'connected_gene': 'MPC2', 'score': 6.69}, {'connected_gene': 'GC01M168079', 'score': 0.22}, {'connected_gene': 'GC01M168113', 'score': 0.07}]
chr1 GH01I168091 168091999 168092505 0.31 [{'connected_gene': 'GPR161', 'score': 11.46}, {'connected_gene': 'TIPRL', 'score': 11.01}, {'connected_gene': 'GC01M168079', 'score': 0.39}]
chr1 GH01I168093 168093103 168093252 0.6 [{'connected_gene': 'GPR161', 'score': 11.48}, {'connected_gene': 'TIPRL', 'score': 11.01}, {'connected_gene': 'GC01M168079', 'score': 0.39}]