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
ENST00000398307 [[49794473, 49795525], [49796175, 49796513]] [[49794473, 49795525], [49796175, 49796284]]
ENST00000218721 [[49794473, 49795374], [49796175, 49796513]] [[49794473, 49795374], [49796175, 49796513]]
NM_001507 [[49794473, 49795374], [49796175, 49796513]] [[49794473, 49795374], [49796175, 49796513]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I049187 49187749 49187772 0.25 [{'connected_gene': 'COX7CP1', 'score': 550.77}, {'connected_gene': 'MLNR', 'score': 11.47}, {'connected_gene': 'GC13M049205', 'score': 0.34}, {'connected_gene': 'FNDC3A', 'score': 0.08}]
chr13 GH13I049400 49400932 49402134 1.66 [{'connected_gene': 'CAB39L', 'score': 554.78}, {'connected_gene': 'PHF11', 'score': 11.0}, {'connected_gene': 'MLNR', 'score': 10.89}, {'connected_gene': 'GC13P049413', 'score': 0.39}, {'connected_gene': 'GC13P049390', 'score': 0.39}]
chr13 GH13I049240 49240238 49240370 0.57 [{'connected_gene': 'CAB39L', 'score': 2.03}, {'connected_gene': 'MLNR', 'score': 1.62}, {'connected_gene': 'GC13P049237', 'score': 0.77}, {'connected_gene': 'LOC105370203', 'score': 0.44}]
chr13 GH13I049277 49277785 49278750 0.31 [{'connected_gene': 'CDADC1', 'score': 23.24}, {'connected_gene': 'MLNR', 'score': 12.95}, {'connected_gene': 'CAB39L', 'score': 8.47}, {'connected_gene': 'GC13P049296', 'score': 0.37}, {'connected_gene': 'GC13M049248', 'score': 0.31}]
chr13 GH13I048971 48971710 48971716 0.22 [{'connected_gene': 'CYSLTR2', 'score': 6.4}, {'connected_gene': 'CAB39L', 'score': 2.33}, {'connected_gene': 'MLNR', 'score': 1.92}, {'connected_gene': 'GC13M048972', 'score': 0.77}, {'connected_gene': 'GC13P048866', 'score': 0.15}]
chr13 GH13I049184 49184705 49184854 0.2 [{'connected_gene': 'MLNR', 'score': 11.45}, {'connected_gene': 'COX7CP1', 'score': 0.77}, {'connected_gene': 'RNY3P2', 'score': 0.17}, {'connected_gene': 'FNDC3A', 'score': 0.08}]
chr13 GH13I049146 49146300 49147695 0.58 [{'connected_gene': 'MLNR', 'score': 11.46}, {'connected_gene': 'COX7CP1', 'score': 0.26}, {'connected_gene': 'RNY3P2', 'score': 0.23}, {'connected_gene': 'FNDC3A', 'score': 0.09}]
chr13 GH13I049219 49219711 49221452 1.41 [{'connected_gene': 'MLNR', 'score': 550.77}, {'connected_gene': 'SETDB2', 'score': 15.51}, {'connected_gene': 'TRIM13', 'score': 12.86}, {'connected_gene': 'KCNRG', 'score': 11.51}, {'connected_gene': 'PPP1R26P1', 'score': 10.66}, {'connected_gene': 'FNDC3A', 'score': 4.94}, {'connected_gene': 'THAP12P10', 'score': 0.39}, {'connected_gene': 'LOC105370203', 'score': 0.31}]
chr13 GH13I049257 49257601 49258950 0.6 [{'connected_gene': 'MLNR', 'score': 11.93}, {'connected_gene': 'CAB39L', 'score': 8.44}, {'connected_gene': 'GC13M049248', 'score': 0.44}, {'connected_gene': 'CDADC1', 'score': 0.39}, {'connected_gene': 'GC13P049296', 'score': 0.28}]
chr13 GH13I049264 49264856 49266721 0.31 [{'connected_gene': 'MLNR', 'score': 12.26}, {'connected_gene': 'CDADC1', 'score': 10.73}, {'connected_gene': 'GC13M049248', 'score': 0.39}, {'connected_gene': 'GC13P049296', 'score': 0.29}]
chr13 GH13I049252 49252617 49255310 0.38 [{'connected_gene': 'MLNR', 'score': 11.94}, {'connected_gene': 'GC13M049248', 'score': 0.77}, {'connected_gene': 'CDADC1', 'score': 0.44}, {'connected_gene': 'GC13P049296', 'score': 0.26}]
chr13 GH13I049298 49298980 49299954 0.49 [{'connected_gene': 'MLNR', 'score': 11.28}, {'connected_gene': 'PHF11', 'score': 10.76}, {'connected_gene': 'CDADC1', 'score': 10.5}, {'connected_gene': 'GC13P049296', 'score': 0.77}, {'connected_gene': 'GC13P049390', 'score': 0.16}]
chr13 GH13I049214 49214132 49215754 1.05 [{'connected_gene': 'FNDC3A', 'score': 5.08}, {'connected_gene': 'OGFOD1P1', 'score': 0.77}, {'connected_gene': 'MLNR', 'score': 0.44}, {'connected_gene': 'LOC105370203', 'score': 0.29}]