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
ENST00000261731 [[113899838, 113901362], [113905060, 113905226], [113905931, 113906209], [113906926, 113907150], [113909130, 113909877]] [[113900994, 113901362], [113905060, 113905226], [113905931, 113906209], [113906926, 113907150], [113909130, 113909303]]
ENST00000557836 [[113909287, 113909814], [113909899, 113910085]] None
NM_022363 [[113900693, 113901362], [113905060, 113905226], [113905931, 113906209], [113906926, 113907150], [113909130, 113909877]] [[113900994, 113901362], [113905060, 113905226], [113905931, 113906209], [113906926, 113907150], [113909130, 113909303]]
Promoter
Chrom Start End Description
chr12 113909667 113909681 CAGE_peak_1_at_LHX5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I113463 113463496 113463605 0.46 [{'connected_gene': 'RBM19', 'score': 14.32}, {'connected_gene': 'LHX5-AS1', 'score': 0.44}, {'connected_gene': 'LHX5', 'score': 0.44}, {'connected_gene': 'SDS', 'score': 0.28}]
chr12 GH12I113896 113896296 113896445 0.43 [{'connected_gene': 'LHX5', 'score': 10.42}, {'connected_gene': 'GC12P113919', 'score': 0.34}, {'connected_gene': 'GC12P113854', 'score': 0.26}, {'connected_gene': 'RBM19', 'score': 0.19}]
chr12 GH12I113912 113912816 113912965 0.62 [{'connected_gene': 'LHX5', 'score': 10.46}, {'connected_gene': 'SDSL', 'score': 10.04}, {'connected_gene': 'GC12P113919', 'score': 0.44}, {'connected_gene': 'RBM19', 'score': 0.23}, {'connected_gene': 'GC12P113854', 'score': 0.22}]
chr12 GH12I113472 113472816 113473124 0.68 [{'connected_gene': 'LHX5', 'score': 552.19}, {'connected_gene': 'LHX5-AS1', 'score': 550.77}, {'connected_gene': 'SDSL', 'score': 5.81}, {'connected_gene': 'GC12M113560', 'score': 0.16}]
chr12 GH12I113473 113473916 113474125 0.43 [{'connected_gene': 'LHX5', 'score': 550.77}, {'connected_gene': 'LHX5-AS1', 'score': 0.77}, {'connected_gene': 'GC12M113560', 'score': 0.16}]
chr12 GH12I113591 113591466 113591650 1.05 [{'connected_gene': 'LHX5', 'score': 1.34}, {'connected_gene': 'GC12M113580', 'score': 0.39}, {'connected_gene': 'GC12M113572', 'score': 0.37}]
chr12 GH12I113487 113487227 113487295 0.22 [{'connected_gene': 'LHX5', 'score': 0.39}, {'connected_gene': 'GC12M113560', 'score': 0.18}]
chr12 GH12I113513 113513651 113513967 0.34 [{'connected_gene': 'LHX5', 'score': 0.26}, {'connected_gene': 'GC12M113560', 'score': 0.23}]
chr12 GH12I113500 113500458 113501365 0.38 [{'connected_gene': 'LHX5', 'score': 0.31}, {'connected_gene': 'GC12M113560', 'score': 0.21}]
chr12 GH12I113485 113485436 113485585 0.31 [{'connected_gene': 'LHX5', 'score': 0.39}, {'connected_gene': 'GC12M113560', 'score': 0.18}]
chr12 GH12I113482 113482516 113482605 0.38 [{'connected_gene': 'LHX5', 'score': 0.39}, {'connected_gene': 'GC12M113560', 'score': 0.18}]
chr12 GH12I113514 113514696 113516058 0.43 [{'connected_gene': 'LHX5', 'score': 0.26}, {'connected_gene': 'GC12M113560', 'score': 0.25}]
chr12 GH12I113403 113403601 113404600 1.43 [{'connected_gene': 'SDS', 'score': 550.34}, {'connected_gene': 'SDSL', 'score': 18.47}, {'connected_gene': 'PLBD2', 'score': 11.23}, {'connected_gene': 'LHX5', 'score': 10.0}, {'connected_gene': 'LOC105369989', 'score': 0.26}]
chr12 GH12I113407 113407925 113408400 0.62 [{'connected_gene': 'PLBD2', 'score': 10.87}, {'connected_gene': 'LHX5', 'score': 10.41}, {'connected_gene': 'SDSL', 'score': 0.39}, {'connected_gene': 'SDS', 'score': 0.37}, {'connected_gene': 'LOC105369989', 'score': 0.25}]
chr12 GH12I113476 113476996 113477680 0.43 [{'connected_gene': 'PLBD2', 'score': 6.09}, {'connected_gene': 'LHX5-AS1', 'score': 0.44}, {'connected_gene': 'LHX5', 'score': 0.44}, {'connected_gene': 'GC12M113560', 'score': 0.17}]
chr12 GH12I113465 113465276 113465425 0.49 [{'connected_gene': 'LHX5-AS1', 'score': 0.44}, {'connected_gene': 'LHX5', 'score': 0.44}, {'connected_gene': 'SDS', 'score': 0.28}]
chr12 GH12I113471 113471836 113471985 0.46 [{'connected_gene': 'LHX5-AS1', 'score': 550.77}, {'connected_gene': 'LHX5', 'score': 550.77}, {'connected_gene': 'SDS', 'score': 0.25}]
chr12 GH12I113466 113466276 113466305 0.31 [{'connected_gene': 'LHX5-AS1', 'score': 0.44}, {'connected_gene': 'LHX5', 'score': 0.44}, {'connected_gene': 'SDS', 'score': 0.28}]
chr12 GH12I113467 113467836 113467925 0.6 [{'connected_gene': 'LHX5-AS1', 'score': 0.77}, {'connected_gene': 'LHX5', 'score': 0.77}, {'connected_gene': 'SDS', 'score': 0.26}]
chr12 GH12I113468 113464516 113464645 0.38 [{'connected_gene': 'LHX5-AS1', 'score': 0.44}, {'connected_gene': 'LHX5', 'score': 0.44}, {'connected_gene': 'SDS', 'score': 0.28}]
chr12 GH12I113470 113470936 113471085 0.43 [{'connected_gene': 'LHX5-AS1', 'score': 550.77}, {'connected_gene': 'LHX5', 'score': 550.77}, {'connected_gene': 'SDS', 'score': 0.26}]
chr12 GH12I113469 113468496 113468525 0.43 [{'connected_gene': 'LHX5-AS1', 'score': 0.77}, {'connected_gene': 'LHX5', 'score': 0.77}, {'connected_gene': 'SDS', 'score': 0.26}]
chr12 GH12I113464 113464856 113464985 0.43 [{'connected_gene': 'LHX5-AS1', 'score': 0.44}, {'connected_gene': 'LHX5', 'score': 0.44}, {'connected_gene': 'SDS', 'score': 0.28}]
chr12 GH12I113462 113462476 113462625 0.78 [{'connected_gene': 'LHX5-AS1', 'score': 0.44}, {'connected_gene': 'LHX5', 'score': 0.44}, {'connected_gene': 'SDS', 'score': 0.28}]
chr12 GH12I113475 113472296 113472545 0.38 [{'connected_gene': 'LHX5-AS1', 'score': 550.77}, {'connected_gene': 'LHX5', 'score': 550.77}, {'connected_gene': 'SDSL', 'score': 5.5}, {'connected_gene': 'GC12M113560', 'score': 0.16}]
chr12 GH12I113474 113472776 113472778 0.43 [{'connected_gene': 'LHX5-AS1', 'score': 550.77}, {'connected_gene': 'LHX5', 'score': 550.77}, {'connected_gene': 'GC12M113560', 'score': 0.16}]
chr12 GH12I113480 113480176 113480325 0.77 [{'connected_gene': 'LHX5-AS1', 'score': 0.44}, {'connected_gene': 'LHX5', 'score': 0.44}, {'connected_gene': 'GC12M113560', 'score': 0.18}]