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
ENST00000392415 [[181845111, 181845302], [181846742, 181846963], [181848769, 181848820], [181922419, 181922552], [181925391, 181925539], [181927517, 181928150]] [[181846769, 181846963], [181848769, 181848820], [181922419, 181922552], [181925391, 181925539], [181927517, 181927615]]
ENST00000410062 [[181845332, 181845700], [181846744, 181846963], [181848769, 181848820], [181922419, 181922552], [181925391, 181925539], [181927517, 181928168]] [[181846769, 181846963], [181848769, 181848820], [181922419, 181922552], [181925391, 181925539], [181927517, 181927615]]
ENST00000602710 [[181845850, 181846204], [181846744, 181846963], [181848769, 181848820], [181922419, 181922552], [181925391, 181925539], [181927517, 181928168]] [[181846769, 181846963], [181848769, 181848820], [181922419, 181922552], [181925391, 181925539], [181927517, 181927615]]
ENST00000602762 [[181846744, 181846963], [181848769, 181848820], [181940222, 181940255], [181940922, 181940959]] None
ENST00000602837 [[181922417, 181922552], [181925391, 181925539], [181927517, 181927768], [181940925, 181941205]] None
ENST00000602970 [[181927616, 181927768], [181940222, 181940255], [181940925, 181941312]] None
ENST00000602303 [[181831974, 181832077], [181846744, 181846963], [181848769, 181848820], [181922419, 181922552], [181925391, 181925539]] [[181846769, 181846963], [181848769, 181848820], [181922419, 181922552], [181925391, 181925539]]
ENST00000602959 [[181845099, 181845186], [181845668, 181845700], [181846744, 181846963], [181848769, 181848820], [181922419, 181922552], [181925391, 181925539], [181927517, 181927756]] [[181846769, 181846963], [181848769, 181848820], [181922419, 181922552], [181925391, 181925539], [181927517, 181927615]]
ENST00000602479 [[181845102, 181845273], [181845668, 181845700], [181846744, 181846963], [181848769, 181848820], [181922419, 181922552], [181925391, 181925537]] [[181846769, 181846963], [181848769, 181848820], [181922419, 181922552], [181925391, 181925537]]
ENST00000602291 [[181845117, 181845273], [181846744, 181846963], [181848769, 181848820], [181922419, 181922552], [181925391, 181925539], [181927517, 181927576]] [[181846769, 181846963], [181848769, 181848820], [181922419, 181922552], [181925391, 181925537]]
ENST00000602475 [[181845533, 181845700], [181846744, 181846963], [181848769, 181848820], [181854608, 181854773]] [[181846769, 181846963], [181848769, 181848820], [181854608, 181854699]]
ENST00000602499 [[181845762, 181846112], [181846744, 181846963], [181848769, 181848820], [181922419, 181922543]] [[181846769, 181846963], [181848769, 181848820], [181922419, 181922543]]
ENST00000602632 [[181846749, 181846963], [181848769, 181848820], [181852064, 181852121], [181854608, 181854732]] [[181846769, 181846963], [181848769, 181848820], [181852064, 181852121], [181854608, 181854699]]
ENST00000602888 [[181848732, 181848820], [181922419, 181922552], [181925391, 181925539], [181927517, 181927647]] None
NM_001278555 [[181845111, 181845273], [181846744, 181846963], [181848769, 181848820], [181922419, 181922552], [181925391, 181925539], [181927517, 181928154]] [[181846769, 181846963], [181848769, 181848820], [181922419, 181922552], [181925391, 181925539], [181927517, 181927615]]
NM_182678 [[181845111, 181845273], [181845668, 181845700], [181846744, 181846963], [181848769, 181848820], [181922419, 181922552], [181925391, 181925539], [181927517, 181928154]] [[181846769, 181846963], [181848769, 181848820], [181922419, 181922552], [181925391, 181925539], [181927517, 181927615]]
NM_006357 [[181845307, 181845700], [181846744, 181846963], [181848769, 181848820], [181922419, 181922552], [181925391, 181925539], [181927517, 181928154]] [[181846769, 181846963], [181848769, 181848820], [181922419, 181922552], [181925391, 181925539], [181927517, 181927615]]
NM_001278554 [[181845850, 181846204], [181846744, 181846963], [181848769, 181848820], [181922419, 181922552], [181925391, 181925539], [181927517, 181928154]] [[181846769, 181846963], [181848769, 181848820], [181922419, 181922552], [181925391, 181925539], [181927517, 181927615]]
Promoter
Chrom Start End Description
chr2 181845052 181845070 CAGE_peak_7_at_UBE2E3_5end
chr2 181845074 181845114 CAGE_peak_2_at_UBE2E3_5end
chr2 181845134 181845154 CAGE_peak_6_at_UBE2E3_5end
chr2 181845298 181845378 CAGE_peak_1_at_UBE2E3_5end
chr2 181845532 181845556 CAGE_peak_5_at_UBE2E3_5end
chr2 181845590 181845614 CAGE_peak_3_at_UBE2E3_5end
chr2 181845639 181845670 CAGE_peak_4_at_UBE2E3_5end
chr2 181845764 181845795 CAGE_peak_9_at_UBE2E3_5end
chr2 181845796 181845824 CAGE_peak_8_at_UBE2E3_5end
chr2 181845843 181845859 CAGE_peak_10_at_UBE2E3_5end
chr2 181848643 181848652 CAGE_peak_20_at_UBE2E3_5end
chr2 181848738 181848765 CAGE_peak_13_at_UBE2E3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I181374 181374878 181375702 0.97 [{'connected_gene': 'ITGA4', 'score': 11.06}, {'connected_gene': 'CERKL', 'score': 8.02}, {'connected_gene': 'UBE2E3', 'score': 5.38}, {'connected_gene': 'GC02P181326', 'score': 0.25}, {'connected_gene': 'ENSG00000226681', 'score': 0.23}, {'connected_gene': 'LINC01934', 'score': 0.06}]
chr2 GH02I181129 181129235 181133207 0.31 [{'connected_gene': 'ITGA4', 'score': 10.35}, {'connected_gene': 'UBE2E3', 'score': 6.42}, {'connected_gene': 'CERKL', 'score': 5.84}, {'connected_gene': 'LINC01934', 'score': 0.31}, {'connected_gene': 'ENSG00000238171', 'score': 0.31}, {'connected_gene': 'MIR4437', 'score': 0.09}]
chr2 GH02I181138 181138684 181139243 0.43 [{'connected_gene': 'ITGA4', 'score': 10.3}, {'connected_gene': 'UBE2E3', 'score': 7.44}, {'connected_gene': 'ENSG00000238171', 'score': 0.29}, {'connected_gene': 'LINC01934', 'score': 0.28}, {'connected_gene': 'MIR4437', 'score': 0.1}]
chr2 GH02I181139 181139434 181143499 1.14 [{'connected_gene': 'ITGA4', 'score': 16.72}, {'connected_gene': 'UBE2E3', 'score': 8.38}, {'connected_gene': 'LINC01934', 'score': 0.28}, {'connected_gene': 'ENSG00000238171', 'score': 0.28}, {'connected_gene': 'MIR4437', 'score': 0.1}]
chr2 GH02I181123 181123506 181128868 1.14 [{'connected_gene': 'ITGA4', 'score': 11.71}, {'connected_gene': 'UBE2E3', 'score': 10.03}, {'connected_gene': 'LINC01934', 'score': 0.34}, {'connected_gene': 'ENSG00000238171', 'score': 0.34}, {'connected_gene': 'MIR4437', 'score': 0.1}]
chr2 GH02I181162 181162800 181166668 0.96 [{'connected_gene': 'ITGA4', 'score': 10.78}, {'connected_gene': 'UBE2E3', 'score': 8.11}, {'connected_gene': 'ENSG00000238171', 'score': 0.22}, {'connected_gene': 'LINC01934', 'score': 0.21}, {'connected_gene': 'MIR4437', 'score': 0.11}]
chr2 GH02I181281 181281055 181282318 0.2 [{'connected_gene': 'ITGA4', 'score': 11.59}, {'connected_gene': 'UBE2E3', 'score': 5.67}, {'connected_gene': 'MIR4437', 'score': 0.34}, {'connected_gene': 'LINC01934', 'score': 0.1}, {'connected_gene': 'ENSG00000238171', 'score': 0.1}]
chr2 GH02I181203 181203084 181203935 0.54 [{'connected_gene': 'ITGA4', 'score': 10.48}, {'connected_gene': 'UBE2E3', 'score': 7.74}, {'connected_gene': 'ENSG00000238171', 'score': 0.15}, {'connected_gene': 'MIR4437', 'score': 0.15}, {'connected_gene': 'LINC01934', 'score': 0.15}]
chr2 GH02I181275 181275323 181276335 0.66 [{'connected_gene': 'ITGA4', 'score': 10.95}, {'connected_gene': 'UBE2E3', 'score': 5.82}, {'connected_gene': 'MIR4437', 'score': 0.31}, {'connected_gene': 'ENSG00000238171', 'score': 0.1}, {'connected_gene': 'LINC01934', 'score': 0.09}]
chr2 GH02I181303 181303873 181315459 1.66 [{'connected_gene': 'ITGA4', 'score': 20.11}, {'connected_gene': 'UBE2E3', 'score': 6.98}, {'connected_gene': 'MIR4437', 'score': 0.77}, {'connected_gene': 'GC02P181326', 'score': 0.37}, {'connected_gene': 'LINC01934', 'score': 0.08}]
chr2 GH02I180983 180983340 180984531 1.31 [{'connected_gene': 'LOC105373772', 'score': 0.77}, {'connected_gene': 'UBE2E3', 'score': 0.37}, {'connected_gene': 'LINC01934', 'score': 0.13}]
chr2 GH02I180985 180985001 180985200 0.2 [{'connected_gene': 'LOC105373772', 'score': 0.77}, {'connected_gene': 'UBE2E3', 'score': 0.37}, {'connected_gene': 'LINC01934', 'score': 0.13}]
chr2 GH02I180978 180978762 180982959 1.99 [{'connected_gene': 'UBE2E3', 'score': 560.77}, {'connected_gene': 'LOC105373772', 'score': 555.88}, {'connected_gene': 'CWC22', 'score': 14.2}, {'connected_gene': 'LINC01934', 'score': 0.13}]
chr2 GH02I181036 181036280 181038659 0.56 [{'connected_gene': 'UBE2E3', 'score': 20.63}, {'connected_gene': 'LOC105373772', 'score': 15.94}, {'connected_gene': 'ITGA4', 'score': 14.43}, {'connected_gene': 'LINC01934', 'score': 0.21}]
chr2 GH02I181189 181189582 181190703 0.2 [{'connected_gene': 'UBE2E3', 'score': 7.6}, {'connected_gene': 'ENSG00000238171', 'score': 0.18}, {'connected_gene': 'LINC01934', 'score': 0.17}, {'connected_gene': 'MIR4437', 'score': 0.13}]
chr2 GH02I181349 181348254 181348403 0.65 [{'connected_gene': 'UBE2E3', 'score': 5.36}, {'connected_gene': 'GC02P181326', 'score': 0.34}, {'connected_gene': 'ENSG00000226681', 'score': 0.18}, {'connected_gene': 'LINC01934', 'score': 0.07}]
chr2 GH02I180625 180625574 180625763 0.49 [{'connected_gene': 'UBE2E3', 'score': 4.0}, {'connected_gene': 'SCHLAP1', 'score': 0.2}, {'connected_gene': 'LOC105373770', 'score': 0.2}, {'connected_gene': 'ENSG00000270289', 'score': 0.1}]
chr2 GH02I180647 180647023 180648336 0.2 [{'connected_gene': 'UBE2E3', 'score': 4.34}, {'connected_gene': 'SCHLAP1', 'score': 0.26}, {'connected_gene': 'LOC105373770', 'score': 0.26}, {'connected_gene': 'ENSG00000270289', 'score': 0.09}]
chr2 GH02I181298 181298739 181300064 0.31 [{'connected_gene': 'UBE2E3', 'score': 6.27}, {'connected_gene': 'MIR4437', 'score': 0.44}, {'connected_gene': 'ENSG00000238171', 'score': 0.08}, {'connected_gene': 'LINC01934', 'score': 0.08}]
chr2 GH02I181300 181300257 181301537 0.97 [{'connected_gene': 'UBE2E3', 'score': 6.56}, {'connected_gene': 'MIR4437', 'score': 0.77}, {'connected_gene': 'ENSG00000238171', 'score': 0.08}, {'connected_gene': 'LINC01934', 'score': 0.08}]
chr2 GH02I181070 181070174 181070383 0.66 [{'connected_gene': 'LINC01934', 'score': 0.29}, {'connected_gene': 'LOC105373772', 'score': 0.16}, {'connected_gene': 'UBE2E3', 'score': 0.15}]
chr2 GH02I181062 181062935 181063281 0.4 [{'connected_gene': 'LINC01934', 'score': 0.28}, {'connected_gene': 'LOC105373772', 'score': 0.18}, {'connected_gene': 'UBE2E3', 'score': 0.15}]
chr2 GH02I180937 180937614 180937763 0.59 [{'connected_gene': 'RPL27AP3', 'score': 550.77}, {'connected_gene': 'UBE2E3', 'score': 5.67}, {'connected_gene': 'FTH1P20', 'score': 0.21}]
chr2 GH02I181104 181104634 181105001 0.85 [{'connected_gene': 'ENSG00000238171', 'score': 550.77}, {'connected_gene': 'ITGA4', 'score': 12.35}, {'connected_gene': 'CERKL', 'score': 10.06}, {'connected_gene': 'NEUROD1', 'score': 10.06}, {'connected_gene': 'ENSG00000234595', 'score': 10.06}, {'connected_gene': 'UBE2E3', 'score': 8.61}, {'connected_gene': 'LINC01934', 'score': 0.77}]