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
ENST00000261735 [[112451119, 112451413], [112457559, 112457698], [112459953, 112461255]] [[112451269, 112451413], [112457559, 112457698], [112459953, 112460456]]
ENST00000455836 [[112451151, 112451413], [112459953, 112461024]] [[112451269, 112451413], [112459953, 112459971]]
ENST00000546477 [[112456607, 112457147], [112457559, 112457698], [112459953, 112460972]] [[112459973, 112460456]]
ENST00000553161 [[112451232, 112451413], [112452394, 112453129]] None
ENST00000552052 [[112451283, 112451413], [112457486, 112457640]] [[112451283, 112451413], [112457486, 112457640]]
NM_001034025 [[112451151, 112451413], [112459953, 112461024]] [[112451269, 112451413], [112459953, 112459971]]
NM_006817 [[112451151, 112451413], [112457559, 112457698], [112459953, 112461024]] [[112451269, 112451413], [112457559, 112457698], [112459953, 112460456]]
Promoter
Chrom Start End Description
chr12 112451192 112451203 CAGE_peak_3_at_ERP29_5end
chr12 112451207 112451218 CAGE_peak_2_at_ERP29_5end
chr12 112451222 112451264 CAGE_peak_1_at_ERP29_5end
chr12 112451328 112451343 CAGE_peak_4_at_ERP29_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I112021 112021729 112023695 0.43 [{'connected_gene': 'TMEM116', 'score': 19.61}, {'connected_gene': 'ADAM1A', 'score': 11.69}, {'connected_gene': 'ENSG00000274227', 'score': 0.77}, {'connected_gene': 'ERP29', 'score': 0.44}, {'connected_gene': 'MIR3657', 'score': 0.37}]
chr12 GH12I111942 111942177 111942897 0.69 [{'connected_gene': 'TMEM116', 'score': 24.23}, {'connected_gene': 'ADAM1A', 'score': 20.45}, {'connected_gene': 'ERP29', 'score': 11.91}, {'connected_gene': 'ADAM1B', 'score': 0.37}, {'connected_gene': 'GC12P111986', 'score': 0.26}]
chr12 GH12I112011 112011401 112015726 2.33 [{'connected_gene': 'TMEM116', 'score': 577.97}, {'connected_gene': 'ERP29', 'score': 550.77}, {'connected_gene': 'RPL6', 'score': 20.27}, {'connected_gene': 'HSPA8P14', 'score': 19.78}, {'connected_gene': 'MAPKAPK5', 'score': 14.65}, {'connected_gene': 'HECTD4', 'score': 12.1}, {'connected_gene': 'ADAM1A', 'score': 11.52}, {'connected_gene': 'NAA25', 'score': 11.04}, {'connected_gene': 'TRAFD1', 'score': 10.07}, {'connected_gene': 'RPS2P41', 'score': 9.87}, {'connected_gene': 'GC12P112008', 'score': 0.77}, {'connected_gene': 'ENSG00000274227', 'score': 0.44}]
chr12 GH12I112347 112347373 112348165 0.76 [{'connected_gene': 'TMEM116', 'score': 31.9}, {'connected_gene': 'ERP29', 'score': 10.07}, {'connected_gene': 'GC12P112348', 'score': 0.77}, {'connected_gene': 'GC12P112372', 'score': 0.34}, {'connected_gene': 'HECTD4', 'score': 0.29}]
chr12 GH12I112134 112134752 112135823 0.43 [{'connected_gene': 'NAA25', 'score': 12.51}, {'connected_gene': 'ERP29', 'score': 10.65}, {'connected_gene': 'TMEM116', 'score': 10.65}, {'connected_gene': 'ADAM1A', 'score': 5.59}, {'connected_gene': 'TRAFD1', 'score': 0.44}, {'connected_gene': 'GC12P112151', 'score': 0.39}]
chr12 GH12I112345 112345919 112346796 0.46 [{'connected_gene': 'ERP29', 'score': 10.07}, {'connected_gene': 'TMEM116', 'score': 10.07}, {'connected_gene': 'GC12P112348', 'score': 0.77}, {'connected_gene': 'GC12P112372', 'score': 0.31}, {'connected_gene': 'HECTD4', 'score': 0.28}]
chr12 GH12I112351 112350001 112350200 0.31 [{'connected_gene': 'ERP29', 'score': 10.07}, {'connected_gene': 'TMEM116', 'score': 10.07}, {'connected_gene': 'GC12P112348', 'score': 0.44}, {'connected_gene': 'GC12P112372', 'score': 0.34}, {'connected_gene': 'HECTD4', 'score': 0.29}]
chr12 GH12I111975 111975240 111976476 0.82 [{'connected_gene': 'ERP29', 'score': 11.94}, {'connected_gene': 'TMEM116', 'score': 11.94}, {'connected_gene': 'ALDH2', 'score': 11.71}, {'connected_gene': 'ATXN2', 'score': 10.05}, {'connected_gene': 'GC12P111986', 'score': 0.39}, {'connected_gene': 'ADAM1B', 'score': 0.25}]
chr12 GH12I111971 111971776 111972065 0.2 [{'connected_gene': 'ERP29', 'score': 12.01}, {'connected_gene': 'TMEM116', 'score': 12.01}, {'connected_gene': 'GC12P111986', 'score': 0.39}, {'connected_gene': 'ADAM1B', 'score': 0.26}]
chr12 GH12I111945 111945357 111945506 0.6 [{'connected_gene': 'ERP29', 'score': 11.92}, {'connected_gene': 'TMEM116', 'score': 11.92}, {'connected_gene': 'ADAM1B', 'score': 0.37}, {'connected_gene': 'GC12P111986', 'score': 0.26}]
chr12 GH12I112124 112124662 112132060 2.45 [{'connected_gene': 'TRAFD1', 'score': 550.77}, {'connected_gene': 'TMEM116', 'score': 37.45}, {'connected_gene': 'MAPKAPK5', 'score': 15.99}, {'connected_gene': 'BRAP', 'score': 14.97}, {'connected_gene': 'ADAM1A', 'score': 11.4}, {'connected_gene': 'NAA25', 'score': 10.7}, {'connected_gene': 'ERP29', 'score': 10.66}, {'connected_gene': 'GC12P112151', 'score': 0.34}]
chr12 GH12I112160 112160391 112164592 0.49 [{'connected_gene': 'MIR6861', 'score': 550.77}, {'connected_gene': 'TMEM116', 'score': 37.34}, {'connected_gene': 'ADAM1A', 'score': 19.97}, {'connected_gene': 'TRAFD1', 'score': 11.85}, {'connected_gene': 'NAA25', 'score': 11.8}, {'connected_gene': 'ALDH2', 'score': 11.42}, {'connected_gene': 'ERP29', 'score': 10.54}, {'connected_gene': 'ENSG00000200135', 'score': 0.39}, {'connected_gene': 'HECTD4', 'score': 0.08}]
chr12 GH12I112018 112018142 112020388 0.74 [{'connected_gene': 'ENSG00000274227', 'score': 550.77}, {'connected_gene': 'ATXN2', 'score': 12.69}, {'connected_gene': 'ERP29', 'score': 0.44}]
chr12 GH12I112017 112017333 112017849 0.51 [{'connected_gene': 'ENSG00000274227', 'score': 550.77}, {'connected_gene': 'ERP29', 'score': 0.77}]

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