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
ENST00000254799 [[71681498, 71686578], [71690010, 71690085], [71691012, 71691148], [71691840, 71691962], [71693568, 71693753], [71697255, 71697391], [71698023, 71698167], [71698834, 71698990], [71701874, 71702031], [71705187, 71705662]] [[71690035, 71690085], [71691012, 71691148], [71691840, 71691962], [71693568, 71693753], [71697255, 71697391], [71698023, 71698167], [71698834, 71698990], [71701874, 71702031], [71705187, 71705544]]
ENST00000439371 [[71681503, 71686578], [71690010, 71690085], [71691012, 71691148], [71691840, 71691962], [71693568, 71693753], [71697255, 71697391], [71698023, 71698167], [71698834, 71698990], [71701874, 71702031], [71704944, 71705220]] [[71690035, 71690085], [71691012, 71691148], [71691840, 71691962], [71693568, 71693753], [71697255, 71697391], [71698023, 71698167], [71698834, 71698990], [71701874, 71701902]]
ENST00000505068 [[71685247, 71686578], [71690010, 71690085], [71691012, 71691962], [71693568, 71693753], [71697255, 71697391], [71698023, 71698167], [71698834, 71698990], [71701874, 71702031], [71705187, 71705614]] None
ENST00000499044 [[71685474, 71686578], [71690010, 71690085], [71691012, 71691148], [71691840, 71691962], [71693568, 71693753], [71697255, 71697391], [71698023, 71698167], [71698834, 71698990], [71701874, 71702031], [71704944, 71705220]] [[71690035, 71690085], [71691012, 71691148], [71691840, 71691962], [71693568, 71693753], [71697255, 71697391], [71698023, 71698167], [71698834, 71698990], [71701874, 71702031], [71704944, 71705220]]
ENST00000502323 [[71686028, 71686578], [71690010, 71690085], [71691012, 71691148], [71691840, 71691962], [71693568, 71693753], [71697255, 71697391], [71698023, 71698167], [71698834, 71698990], [71701874, 71702031], [71704585, 71704718]] [[71690035, 71690085], [71691012, 71691148], [71691840, 71691962], [71693568, 71693753], [71697255, 71697391], [71698023, 71698167], [71698834, 71698990], [71701874, 71701902]]
ENST00000545193 [[71686091, 71686578], [71690010, 71690085], [71691012, 71691148], [71691840, 71691962], [71693568, 71693753], [71697255, 71697391], [71698023, 71698167], [71698834, 71698990], [71701874, 71702031], [71704893, 71705033]] [[71690035, 71690085], [71691012, 71691148], [71691840, 71691962], [71693568, 71693753], [71697255, 71697391], [71698023, 71698167], [71698834, 71698990], [71701874, 71702031], [71704893, 71704896]]
ENST00000514161 [[71686091, 71686578], [71690010, 71690085], [71691012, 71691148], [71691840, 71691962], [71693568, 71693753], [71697255, 71697391], [71698023, 71698167], [71698834, 71698990], [71701874, 71702031], [71704893, 71705060]] [[71690035, 71690085], [71691012, 71691148], [71691840, 71691962], [71693568, 71693753], [71697255, 71697391], [71698023, 71698167], [71698834, 71698990], [71701874, 71702031], [71704893, 71705060]]
ENST00000506453 [[71686415, 71686578], [71690010, 71690085], [71691012, 71691148], [71691840, 71691962], [71693568, 71693753], [71698023, 71698167], [71698834, 71698934]] [[71693652, 71693753], [71698023, 71698167], [71698834, 71698934]]
ENST00000508091 [[71686462, 71686578], [71701874, 71702031], [71704944, 71705090]] None
NM_001098477 [[71681498, 71686578], [71690010, 71690085], [71691012, 71691148], [71691840, 71691962], [71693568, 71693753], [71697255, 71697391], [71698023, 71698167], [71698834, 71698990], [71701874, 71702031], [71704944, 71705220]] [[71690035, 71690085], [71691012, 71691148], [71691840, 71691962], [71693568, 71693753], [71697255, 71697391], [71698023, 71698167], [71698834, 71698990], [71701874, 71701902]]
NM_002092 [[71681498, 71686578], [71690010, 71690085], [71691012, 71691148], [71691840, 71691962], [71693568, 71693753], [71697255, 71697391], [71698023, 71698167], [71698834, 71698990], [71701874, 71702031], [71705187, 71705627]] [[71690035, 71690085], [71691012, 71691148], [71691840, 71691962], [71693568, 71693753], [71697255, 71697391], [71698023, 71698167], [71698834, 71698990], [71701874, 71702031], [71705187, 71705544]]
Promoter
Chrom Start End Description
chr4 71704957 71704992 CAGE_peak_2_at_GRSF1_5end
chr4 71705027 71705051 CAGE_peak_4_at_GRSF1_5end
chr4 71705065 71705081 CAGE_peak_6_at_GRSF1_5end
chr4 71705082 71705108 CAGE_peak_5_at_GRSF1_5end
chr4 71705590 71705613 CAGE_peak_1_at_GRSF1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I070938 70938257 70938316 0.76 [{'connected_gene': 'MOB1B', 'score': 550.28}, {'connected_gene': 'GRSF1', 'score': 11.12}, {'connected_gene': 'JCHAIN', 'score': 10.22}, {'connected_gene': 'DCK', 'score': 0.23}]
chr4 GH04I070901 70901526 70904540 2.36 [{'connected_gene': 'MOB1B', 'score': 567.62}, {'connected_gene': 'DCK', 'score': 11.9}, {'connected_gene': 'GRSF1', 'score': 11.85}, {'connected_gene': 'UTP3', 'score': 10.35}, {'connected_gene': 'JCHAIN', 'score': 10.35}]
chr4 GH04I070836 70836827 70840640 2.01 [{'connected_gene': 'GRSF1', 'score': 550.77}, {'connected_gene': 'GC04P070840', 'score': 550.77}, {'connected_gene': 'UTP3', 'score': 10.1}, {'connected_gene': 'JCHAIN', 'score': 10.1}, {'connected_gene': 'RUFY3', 'score': 8.35}, {'connected_gene': 'DCK', 'score': 5.96}, {'connected_gene': 'PIR34937', 'score': 0.18}]
chr4 GH04I070837 70836282 70836341 0.73 [{'connected_gene': 'GRSF1', 'score': 550.44}, {'connected_gene': 'UTP3', 'score': 10.11}, {'connected_gene': 'JCHAIN', 'score': 10.1}, {'connected_gene': 'GC04P070840', 'score': 0.77}, {'connected_gene': 'PIR34937', 'score': 0.19}]
chr4 GH04I070844 70844304 70844433 0.46 [{'connected_gene': 'GRSF1', 'score': 550.77}, {'connected_gene': 'ENSG00000283313', 'score': 0.77}]
chr4 GH04I070969 70969833 70972006 0.8 [{'connected_gene': 'DCK', 'score': 19.44}, {'connected_gene': 'RUFY3', 'score': 12.17}, {'connected_gene': 'GRSF1', 'score': 11.48}, {'connected_gene': 'JCHAIN', 'score': 10.93}, {'connected_gene': 'UTP3', 'score': 10.93}, {'connected_gene': 'MOB1B', 'score': 0.2}]
chr4 GH04I070846 70846801 70847000 0.31 [{'connected_gene': 'ENSG00000283313', 'score': 550.77}, {'connected_gene': 'GRSF1', 'score': 0.77}]

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