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
ENST00000449823 [[37005966, 37006303], [37007172, 37007358], [37011765, 37012012], [37012203, 37012328], [37012780, 37013004], [37014115, 37014320], [37015254, 37015368], [37016307, 37016441], [37016750, 37017019]] [[37007193, 37007358], [37011765, 37012012], [37012203, 37012328], [37012780, 37013004], [37014115, 37014320], [37015254, 37015368], [37016307, 37016441], [37016750, 37016802]]
ENST00000440264 [[37005966, 37006303], [37007169, 37007358], [37011765, 37012012], [37012203, 37012328], [37012780, 37013004], [37014115, 37014320], [37015254, 37015368], [37016307, 37016441], [37016750, 37017019]] [[37007193, 37007358], [37011765, 37012012], [37012203, 37012328], [37012780, 37013004], [37014115, 37014320], [37015254, 37015368], [37016307, 37016441], [37016750, 37016802]]
ENST00000463403 [[37006039, 37006303], [37007169, 37007358], [37011765, 37011848]] None
ENST00000418263 [[37006408, 37006866], [37007172, 37007358], [37011765, 37012012], [37012203, 37012328], [37012780, 37013004], [37014115, 37014320], [37015254, 37015368], [37016307, 37016441], [37016750, 37017019]] [[37006758, 37006866], [37007172, 37007358], [37011765, 37012012], [37012203, 37012328], [37012780, 37013004], [37014115, 37014320], [37015254, 37015368], [37016307, 37016441], [37016750, 37016802]]
ENST00000255465 [[37006494, 37006866], [37007169, 37007358], [37011765, 37012012], [37012203, 37012328], [37012780, 37013004], [37014115, 37014320], [37015254, 37015368], [37016307, 37016441], [37016750, 37017019]] [[37006758, 37006866], [37007169, 37007358], [37011765, 37012012], [37012203, 37012328], [37012780, 37013004], [37014115, 37014320], [37015254, 37015368], [37016307, 37016441], [37016750, 37016802]]
NM_001111047 [[37005966, 37006303], [37007172, 37007358], [37011765, 37012012], [37012203, 37012328], [37012780, 37013004], [37014115, 37014320], [37015254, 37015368], [37016307, 37016441], [37016750, 37017019]] [[37007193, 37007358], [37011765, 37012012], [37012203, 37012328], [37012780, 37013004], [37014115, 37014320], [37015254, 37015368], [37016307, 37016441], [37016750, 37016802]]
NM_001111046 [[37005966, 37006303], [37007169, 37007358], [37011765, 37012012], [37012203, 37012328], [37012780, 37013004], [37014115, 37014320], [37015254, 37015368], [37016307, 37016441], [37016750, 37017019]] [[37007193, 37007358], [37011765, 37012012], [37012203, 37012328], [37012780, 37013004], [37014115, 37014320], [37015254, 37015368], [37016307, 37016441], [37016750, 37016802]]
NM_001111045 [[37006408, 37006866], [37007172, 37007358], [37011765, 37012012], [37012203, 37012328], [37012780, 37013004], [37014115, 37014320], [37015254, 37015368], [37016307, 37016441], [37016750, 37017019]] [[37006758, 37006866], [37007172, 37007358], [37011765, 37012012], [37012203, 37012328], [37012780, 37013004], [37014115, 37014320], [37015254, 37015368], [37016307, 37016441], [37016750, 37016802]]
NM_003914 [[37006408, 37006866], [37007169, 37007358], [37011765, 37012012], [37012203, 37012328], [37012780, 37013004], [37014115, 37014320], [37015254, 37015368], [37016307, 37016441], [37016750, 37017019]] [[37006758, 37006866], [37007169, 37007358], [37011765, 37012012], [37012203, 37012328], [37012780, 37013004], [37014115, 37014320], [37015254, 37015368], [37016307, 37016441], [37016750, 37016802]]
Promoter
Chrom Start End Description
chr13 37005647 37005661 CAGE_peak_9_at_CCNA1_5end
chr13 37006045 37006056 CAGE_peak_6_at_CCNA1_5end
chr13 37006060 37006068 CAGE_peak_11_at_CCNA1_5end
chr13 37006080 37006097 CAGE_peak_4_at_CCNA1_5end
chr13 37006398 37006417 CAGE_peak_5_at_CCNA1_5end
chr13 37006421 37006487 CAGE_peak_2_at_CCNA1_5end
chr13 37006624 37006638 CAGE_peak_1_at_CCNA1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I036074 36074575 36075308 0.53 [{'connected_gene': 'CCNA1', 'score': 3.98}, {'connected_gene': 'DCLK1', 'score': 2.96}, {'connected_gene': 'CCDC169', 'score': 1.32}, {'connected_gene': 'NMTRQ-TTG10-1', 'score': 0.44}]
chr13 GH13I036432 36432000 36432601 1.8 [{'connected_gene': 'CCNA1', 'score': 550.77}, {'connected_gene': 'CCDC169', 'score': 8.15}, {'connected_gene': 'HIST1H2APS6', 'score': 0.22}]
chr13 GH13I036420 36420484 36420613 0.69 [{'connected_gene': 'CCNA1', 'score': 0.39}, {'connected_gene': 'SPART', 'score': 0.23}]
chr13 GH13I036772 36772675 36773471 0.31 [{'connected_gene': 'CCNA1', 'score': 10.38}, {'connected_gene': 'LOC102723490', 'score': 0.37}, {'connected_gene': 'TCEAL4P1', 'score': 0.29}]
chr13 GH13I036431 36431767 36431826 1.02 [{'connected_gene': 'CCNA1', 'score': 550.77}, {'connected_gene': 'HIST1H2APS6', 'score': 0.22}]
chr13 GH13I036433 36433001 36433200 0.54 [{'connected_gene': 'CCNA1', 'score': 0.77}, {'connected_gene': 'HIST1H2APS6', 'score': 0.22}]
chr13 GH13I036373 36373911 36375536 0.54 [{'connected_gene': 'CCDC169', 'score': 8.04}, {'connected_gene': 'SPART-AS1', 'score': 7.83}, {'connected_gene': 'CCNA1', 'score': 4.55}, {'connected_gene': 'SPART', 'score': 0.77}]
chr13 GH13I036279 36279099 36279122 0.22 [{'connected_gene': 'RFXAP', 'score': 9.82}, {'connected_gene': 'CCDC169', 'score': 6.05}, {'connected_gene': 'CCNA1', 'score': 2.86}, {'connected_gene': 'RNU6-71P', 'score': 0.39}, {'connected_gene': 'CCDC169-SOHLH2', 'score': 0.37}]
chr13 GH13I036717 36717704 36718446 0.2 [{'connected_gene': 'SERTM1', 'score': 10.83}, {'connected_gene': 'CCNA1', 'score': 9.73}, {'connected_gene': 'RFXAP', 'score': 9.55}, {'connected_gene': 'GAPDHP34', 'score': 0.34}, {'connected_gene': 'LOC102723490', 'score': 0.19}]
chr13 GH13I036370 36370147 36370353 1.01 [{'connected_gene': 'SPART', 'score': 550.77}, {'connected_gene': 'CCNA1', 'score': 0.21}]
chr13 GH13I036427 36427725 36428773 0.65 [{'connected_gene': 'SPART-AS1', 'score': 7.02}, {'connected_gene': 'CCDC169', 'score': 5.4}, {'connected_gene': 'CCNA1', 'score': 0.77}, {'connected_gene': 'SPART', 'score': 0.22}]
chr13 GH13I036416 36416900 36418935 1.21 [{'connected_gene': 'SPART-AS1', 'score': 6.72}, {'connected_gene': 'SPART', 'score': 5.48}, {'connected_gene': 'CCNA1', 'score': 0.39}]