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
ENST00000511306 [[14507337, 14511992], [14513660, 14513784], [14522252, 14522419], [14523461, 14523506], [14530481, 14530552], [14533059, 14533197], [14534899, 14535006], [14537799, 14537973], [14538133, 14538248], [14542624, 14543584]] [[14523477, 14523506], [14530481, 14530552], [14533059, 14533197], [14534899, 14535006], [14537799, 14537973], [14538133, 14538248], [14542624, 14543145]]
ENST00000358970 [[14511896, 14511992], [14513660, 14513784], [14522252, 14522419], [14523461, 14523506], [14524911, 14524982], [14530481, 14530552], [14533059, 14533197], [14534899, 14535006], [14537799, 14537973], [14538133, 14538248], [14542624, 14543145]] [[14511896, 14511992], [14513660, 14513784], [14522252, 14522419], [14523461, 14523506], [14524911, 14524982], [14530481, 14530552], [14533059, 14533197], [14534899, 14535006], [14537799, 14537973], [14538133, 14538248], [14542624, 14543145]]
ENST00000389891 [[14528959, 14529044], [14530481, 14530552], [14533059, 14533197], [14534899, 14535006], [14537799, 14537973], [14538133, 14538248], [14542624, 14543492]] None
NR_134878 [[14507337, 14511992], [14513660, 14513784], [14522252, 14522419], [14523461, 14523506], [14530481, 14530552], [14533059, 14533197], [14534899, 14535006], [14537799, 14537973], [14538133, 14538248], [14542624, 14543599]] None
NM_001137671 [[14511736, 14511992], [14513660, 14513784], [14522252, 14522419], [14523461, 14523506], [14524911, 14524982], [14530481, 14530552], [14533059, 14533197], [14534899, 14535006], [14537799, 14537973], [14538133, 14538248], [14542624, 14543599]] [[14511896, 14511992], [14513660, 14513784], [14522252, 14522419], [14523461, 14523506], [14524911, 14524982], [14530481, 14530552], [14533059, 14533197], [14534899, 14535006], [14537799, 14537973], [14538133, 14538248], [14542624, 14543145]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr18 GH18I014543 14543200 14543259 0.5 [{'connected_gene': 'GC18P014544', 'score': 550.77}, {'connected_gene': 'POTEC', 'score': 550.77}, {'connected_gene': 'PIR32483', 'score': 0.39}]