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
ENST00000296777 [[71014989, 71015279], [71015706, 71015790], [71016334, 71016875]] [[71015120, 71015279], [71015706, 71015790], [71016334, 71016442]]
ENST00000513096 [[71015405, 71015790], [71016334, 71016875]] None
NM_004291 [[71014989, 71015279], [71015706, 71015790], [71016334, 71016875]] [[71015120, 71015279], [71015706, 71015790], [71016334, 71016442]]
Promoter
Chrom Start End Description
chr5 71015094 71015110 CAGE_peak_1_at_CARTPT_5end
chr5 71015455 71015465 CAGE_peak_2_at_CARTPT_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I071693 71693398 71696003 1.17 [{'connected_gene': 'CARTPT', 'score': 21.34}, {'connected_gene': 'MCCC2', 'score': 0.14}]
chr5 GH05I071698 71698054 71698203 0.54 [{'connected_gene': 'CARTPT', 'score': 29.2}, {'connected_gene': 'MCCC2', 'score': 0.14}]
chr5 GH05I071719 71719014 71719073 0.68 [{'connected_gene': 'CARTPT', 'score': 550.77}, {'connected_gene': 'MCCC2', 'score': 0.12}]
chr5 GH05I071743 71743194 71744546 0.46 [{'connected_gene': 'CARTPT', 'score': 17.36}, {'connected_gene': 'LOC105379027', 'score': 0.44}]
chr5 GH05I071600 71600114 71602719 1.13 [{'connected_gene': 'MCCC2', 'score': 18.4}, {'connected_gene': 'CARTPT', 'score': 0.13}]
chr5 GH05I071642 71642337 71642595 0.34 [{'connected_gene': 'MCCC2', 'score': 0.22}, {'connected_gene': 'CARTPT', 'score': 0.18}]
chr5 GH05I071585 71585790 71589068 2.05 [{'connected_gene': 'MCCC2', 'score': 567.65}, {'connected_gene': 'BDP1', 'score': 10.82}, {'connected_gene': 'CARTPT', 'score': 0.12}]
chr5 GH05I071782 71782601 71783808 0.95 [{'connected_gene': 'MAP1B', 'score': 10.34}, {'connected_gene': 'CARTPT', 'score': 10.2}, {'connected_gene': 'GC05P071793', 'score': 0.39}, {'connected_gene': 'LOC100422013', 'score': 0.31}, {'connected_gene': 'LOC105379027', 'score': 0.29}]
chr5 GH05I071748 71748514 71748763 0.68 [{'connected_gene': 'LOC105379027', 'score': 550.77}, {'connected_gene': 'CARTPT', 'score': 6.01}]
chr5 GH05I071749 71748808 71749419 0.6 [{'connected_gene': 'LOC105379027', 'score': 550.77}, {'connected_gene': 'CARTPT', 'score': 6.58}]