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
ENST00000546177 [[96123152, 96123237], [96137442, 96137555], [96240200, 96240738]] None
ENST00000332349 [[96123157, 96123237], [96123646, 96126421]] [[96123813, 96125388]]
ENST00000458427 [[96123157, 96126727]] [[96123813, 96125388]]
NM_001261833 [[96123157, 96123237], [96123646, 96126727]] [[96123813, 96125388]]
NM_003772 [[96123157, 96126727]] [[96123813, 96125388]]
Promoter
Chrom Start End Description
chr11 96123170 96123211 CAGE_peak_1_at_JRKL_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I095788 95788221 95792611 2.3 [{'connected_gene': 'CEP57', 'score': 590.6}, {'connected_gene': 'FAM76B', 'score': 586.01}, {'connected_gene': 'FGFR3P2', 'score': 23.27}, {'connected_gene': 'MAML2', 'score': 18.24}, {'connected_gene': 'JRKL', 'score': 14.39}, {'connected_gene': 'LOC101929295', 'score': 10.76}, {'connected_gene': 'MTMR2', 'score': 9.61}, {'connected_gene': 'GC11M095802', 'score': 0.37}]
chr11 GH11I096061 96061706 96063806 0.89 [{'connected_gene': 'JRKL', 'score': 10.68}, {'connected_gene': 'CCDC82', 'score': 10.68}, {'connected_gene': 'GC11M095989', 'score': 0.21}, {'connected_gene': 'GC11P096202', 'score': 0.12}, {'connected_gene': 'MAML2', 'score': 0.06}]
chr11 GH11I096037 96037017 96038426 0.96 [{'connected_gene': 'JRKL', 'score': 11.08}, {'connected_gene': 'CCDC82', 'score': 11.08}, {'connected_gene': 'GC11M095989', 'score': 0.28}, {'connected_gene': 'GC11P096202', 'score': 0.1}, {'connected_gene': 'MAML2', 'score': 0.06}]
chr11 GH11I096391 96391601 96391800 0.2 [{'connected_gene': 'JRKL', 'score': 550.77}, {'connected_gene': 'CCDC82', 'score': 550.77}, {'connected_gene': 'GC11M096475', 'score': 0.18}, {'connected_gene': 'RNA5SP346', 'score': 0.18}]
chr11 GH11I096393 96393897 96394046 0.68 [{'connected_gene': 'JRKL', 'score': 0.77}, {'connected_gene': 'GC11M096475', 'score': 0.18}, {'connected_gene': 'RNA5SP346', 'score': 0.18}]
chr11 GH11I096011 96011538 96017134 1.69 [{'connected_gene': 'MAML2', 'score': 16.12}, {'connected_gene': 'CEP57', 'score': 11.01}, {'connected_gene': 'JRKL', 'score': 10.34}, {'connected_gene': 'FAM76B', 'score': 5.95}, {'connected_gene': 'LOC101929295', 'score': 5.71}, {'connected_gene': 'CCDC82', 'score': 1.78}, {'connected_gene': 'GC11M095989', 'score': 0.37}, {'connected_gene': 'GC11P096202', 'score': 0.09}]
chr11 GH11I096226 96226802 96232199 1.44 [{'connected_gene': 'MAML2', 'score': 6.45}, {'connected_gene': 'MTMR2', 'score': 5.11}, {'connected_gene': 'FAM76B', 'score': 3.14}, {'connected_gene': 'JRKL', 'score': 2.01}, {'connected_gene': 'CCDC82', 'score': 1.77}, {'connected_gene': 'GC11P096202', 'score': 0.31}, {'connected_gene': 'GC11M096338', 'score': 0.14}]
chr11 GH11I096168 96168277 96170061 1.39 [{'connected_gene': 'MAML2', 'score': 9.99}, {'connected_gene': 'MTMR2', 'score': 5.04}, {'connected_gene': 'FAM76B', 'score': 3.82}, {'connected_gene': 'JRKL', 'score': 2.57}, {'connected_gene': 'CCDC82', 'score': 2.3}, {'connected_gene': 'GC11P096202', 'score': 0.29}, {'connected_gene': 'GC11M095989', 'score': 0.09}]
chr11 GH11I096253 96253088 96260827 1.65 [{'connected_gene': 'MAML2', 'score': 24.1}, {'connected_gene': 'CCDC82', 'score': 8.37}, {'connected_gene': 'FAM76B', 'score': 7.15}, {'connected_gene': 'JRKL', 'score': 2.84}, {'connected_gene': 'GC11P096202', 'score': 0.23}, {'connected_gene': 'GC11M096338', 'score': 0.18}]
chr11 GH11I096266 96266931 96268916 1.42 [{'connected_gene': 'MAML2', 'score': 7.85}, {'connected_gene': 'CCDC82', 'score': 4.49}, {'connected_gene': 'FAM76B', 'score': 3.19}, {'connected_gene': 'JRKL', 'score': 1.53}, {'connected_gene': 'GC11P096202', 'score': 0.2}, {'connected_gene': 'GC11M096338', 'score': 0.19}]
chr11 GH11I096206 96206202 96209599 1.51 [{'connected_gene': 'MAML2', 'score': 12.46}, {'connected_gene': 'FAM76B', 'score': 9.51}, {'connected_gene': 'MTMR2', 'score': 4.58}, {'connected_gene': 'CCDC82', 'score': 3.38}, {'connected_gene': 'JRKL', 'score': 1.34}, {'connected_gene': 'GC11P096202', 'score': 0.44}, {'connected_gene': 'GC11M096338', 'score': 0.12}]
chr11 GH11I096262 96262617 96266256 1.45 [{'connected_gene': 'MAML2', 'score': 21.99}, {'connected_gene': 'FAM76B', 'score': 3.3}, {'connected_gene': 'JRKL', 'score': 2.51}, {'connected_gene': 'CCDC82', 'score': 2.17}, {'connected_gene': 'GC11P096202', 'score': 0.21}, {'connected_gene': 'GC11M096338', 'score': 0.18}]
chr11 GH11I096045 96045699 96047127 1.23 [{'connected_gene': 'MAML2', 'score': 7.79}, {'connected_gene': 'FAM76B', 'score': 2.46}, {'connected_gene': 'JRKL', 'score': 2.12}, {'connected_gene': 'CCDC82', 'score': 1.68}, {'connected_gene': 'GC11M095989', 'score': 0.25}, {'connected_gene': 'GC11P096202', 'score': 0.1}]
chr11 GH11I096241 96241148 96244732 1.75 [{'connected_gene': 'MAML2', 'score': 25.1}, {'connected_gene': 'FAM76B', 'score': 16.7}, {'connected_gene': 'CCDC82', 'score': 3.24}, {'connected_gene': 'JRKL', 'score': 2.21}, {'connected_gene': 'GC11P096202', 'score': 0.26}, {'connected_gene': 'GC11M096338', 'score': 0.15}]
chr11 GH11I096337 96337039 96343891 2.51 [{'connected_gene': 'MAML2', 'score': 568.26}, {'connected_gene': 'GC11M096338', 'score': 550.77}, {'connected_gene': 'MIR1260B', 'score': 550.77}, {'connected_gene': 'FAM76B', 'score': 26.9}, {'connected_gene': 'FGFR3P2', 'score': 14.49}, {'connected_gene': 'CEP57', 'score': 11.86}, {'connected_gene': 'CCDC82', 'score': 7.56}, {'connected_gene': 'JRKL', 'score': 3.74}]
chr11 GH11I096388 96388618 96391084 2.02 [{'connected_gene': 'CCDC82', 'score': 633.42}, {'connected_gene': 'JRKL', 'score': 550.77}, {'connected_gene': 'FAM76B', 'score': 10.97}, {'connected_gene': 'MAML2', 'score': 0.25}]
chr11 GH11I096455 96455946 96456846 0.31 [{'connected_gene': 'CCDC82', 'score': 12.23}, {'connected_gene': 'GC11M096475', 'score': 0.37}, {'connected_gene': 'RNA5SP346', 'score': 0.37}, {'connected_gene': 'JRKL-AS1', 'score': 0.23}, {'connected_gene': 'JRKL', 'score': 0.2}]
chr11 GH11I096153 96153202 96158975 1.71 [{'connected_gene': 'FAM76B', 'score': 37.27}, {'connected_gene': 'CEP57', 'score': 32.33}, {'connected_gene': 'FGFR3P2', 'score': 27.8}, {'connected_gene': 'CCDC82', 'score': 13.17}, {'connected_gene': 'JRKL', 'score': 11.32}, {'connected_gene': 'MAML2', 'score': 10.47}, {'connected_gene': 'GC11P096202', 'score': 0.25}, {'connected_gene': 'GC11M095989', 'score': 0.1}]
chr11 GH11I096486 96486931 96488066 0.95 [{'connected_gene': 'LOC105369443', 'score': 5.0}, {'connected_gene': 'GC11M096475', 'score': 0.39}, {'connected_gene': 'RNA5SP346', 'score': 0.39}, {'connected_gene': 'JRKL-AS1', 'score': 0.37}, {'connected_gene': 'JRKL', 'score': 0.15}]
chr11 GH11I096328 96328337 96334097 1.39 [{'connected_gene': 'FGFR3P2', 'score': 23.0}, {'connected_gene': 'FAM76B', 'score': 16.29}, {'connected_gene': 'CCDC82', 'score': 15.34}, {'connected_gene': 'CEP57', 'score': 15.23}, {'connected_gene': 'JRKL', 'score': 14.58}, {'connected_gene': 'MAML2', 'score': 10.03}, {'connected_gene': 'GC11M096338', 'score': 0.44}, {'connected_gene': 'GC11P096202', 'score': 0.13}]
chr11 GH11I096463 96463802 96465199 0.96 [{'connected_gene': 'GC11M096475', 'score': 0.39}, {'connected_gene': 'RNA5SP346', 'score': 0.39}, {'connected_gene': 'JRKL-AS1', 'score': 0.26}, {'connected_gene': 'JRKL', 'score': 0.19}]