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
ENST00000334438 [[158368311, 158369256]] [[158368311, 158369256]]
NM_001004475 [[158368311, 158369256]] [[158368311, 158369256]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I158247 158247601 158249800 1.3 [{'connected_gene': 'CD1A', 'score': 550.77}, {'connected_gene': 'CD1C', 'score': 14.02}, {'connected_gene': 'CD1E', 'score': 5.94}, {'connected_gene': 'CD1D', 'score': 4.5}, {'connected_gene': 'CD1B', 'score': 3.81}, {'connected_gene': 'OR10T2', 'score': 2.31}, {'connected_gene': 'GC01P158261', 'score': 0.44}, {'connected_gene': 'GC01P158260', 'score': 0.44}]
chr1 GH01I158333 158333888 158334071 0.46 [{'connected_gene': 'CD1E', 'score': 22.01}, {'connected_gene': 'CD1B', 'score': 8.18}, {'connected_gene': 'OR6Y1', 'score': 3.55}, {'connected_gene': 'OR10K2', 'score': 2.75}, {'connected_gene': 'OR6K6', 'score': 2.44}, {'connected_gene': 'OR10T2', 'score': 2.22}, {'connected_gene': 'CD1C', 'score': 1.67}]
chr1 GH01I158395 158395091 158397072 0.2 [{'connected_gene': 'CD1E', 'score': 5.59}, {'connected_gene': 'OR10T2', 'score': 0.77}]
chr1 GH01I158353 158353801 158354200 1.01 [{'connected_gene': 'CD1E', 'score': 550.77}, {'connected_gene': 'OR10T2', 'score': 0.25}]
chr1 GH01I158389 158389129 158394204 0.2 [{'connected_gene': 'CD1E', 'score': 6.33}, {'connected_gene': 'OR10T2', 'score': 0.44}]
chr1 GH01I158361 158361950 158366193 0.31 [{'connected_gene': 'CD1B', 'score': 11.17}, {'connected_gene': 'OR10T2', 'score': 11.05}, {'connected_gene': 'CD1C', 'score': 10.47}, {'connected_gene': 'OR10K2', 'score': 10.21}, {'connected_gene': 'OR10X1', 'score': 9.48}, {'connected_gene': 'CD1E', 'score': 5.13}]
chr1 GH01I158358 158358359 158360954 0.2 [{'connected_gene': 'SPTA1', 'score': 13.68}, {'connected_gene': 'OR10T2', 'score': 11.05}, {'connected_gene': 'CD1B', 'score': 10.67}, {'connected_gene': 'CD1C', 'score': 10.36}, {'connected_gene': 'OR10R2', 'score': 10.06}, {'connected_gene': 'CD1E', 'score': 0.44}]
chr1 GH01I157991 157991414 158023607 2.66 [{'connected_gene': 'KIRREL1', 'score': 563.87}, {'connected_gene': 'LOC246784', 'score': 15.81}, {'connected_gene': 'CD1E', 'score': 11.24}, {'connected_gene': 'OR10T2', 'score': 3.31}, {'connected_gene': 'KIRREL1-IT1', 'score': 0.37}]
chr1 GH01I158425 158425793 158426670 0.2 [{'connected_gene': 'OR10K2', 'score': 550.77}, {'connected_gene': 'CD1E', 'score': 10.68}, {'connected_gene': 'OR10T2', 'score': 10.59}, {'connected_gene': 'CD1B', 'score': 7.35}]
chr1 GH01I158424 158424070 158424630 0.2 [{'connected_gene': 'OR10K2', 'score': 550.77}, {'connected_gene': 'CD1B', 'score': 6.49}, {'connected_gene': 'OR10T2', 'score': 0.34}]
chr1 GH01I158426 158424642 158425761 0.2 [{'connected_gene': 'OR10K2', 'score': 550.77}, {'connected_gene': 'CD1B', 'score': 6.45}, {'connected_gene': 'OR10T2', 'score': 0.31}]
chr1 GH01I158410 158410686 158411930 0.2 [{'connected_gene': 'OR10K2', 'score': 0.39}, {'connected_gene': 'OR10T2', 'score': 0.39}]
chr1 GH01I158423 158423268 158424010 0.2 [{'connected_gene': 'OR10K2', 'score': 0.77}, {'connected_gene': 'OR10T2', 'score': 0.34}]
chr1 GH01I158420 158420213 158421340 0.2 [{'connected_gene': 'OR10R2', 'score': 10.05}, {'connected_gene': 'OR10T2', 'score': 9.76}, {'connected_gene': 'CD1B', 'score': 6.47}, {'connected_gene': 'OR10K2', 'score': 0.44}]
chr1 GH01I158407 158407921 158409122 0.2 [{'connected_gene': 'OR10R2', 'score': 10.16}, {'connected_gene': 'OR10T2', 'score': 0.44}, {'connected_gene': 'OR10K2', 'score': 0.37}]
chr1 GH01I158394 158394640 158395021 0.38 [{'connected_gene': 'ACKR1', 'score': 4.49}, {'connected_gene': 'OR10T2', 'score': 0.77}, {'connected_gene': 'CD1E', 'score': 0.26}]
chr1 GH01I158400 158400866 158401183 0.47 [{'connected_gene': 'OR10T2', 'score': 552.49}, {'connected_gene': 'CD1E', 'score': 15.76}, {'connected_gene': 'CD1B', 'score': 4.43}, {'connected_gene': 'OR10K1', 'score': 1.67}, {'connected_gene': 'OR6K3', 'score': 1.49}, {'connected_gene': 'OR6N1', 'score': 1.47}, {'connected_gene': 'OR10K2', 'score': 0.31}]
chr1 GH01I158370 158370974 158371596 0.54 [{'connected_gene': 'OR10T2', 'score': 11.22}, {'connected_gene': 'CD1E', 'score': 6.51}]
chr1 GH01I158369 158369759 158370940 0.38 [{'connected_gene': 'OR10T2', 'score': 11.22}, {'connected_gene': 'CD1E', 'score': 0.37}]
chr1 GH01I158368 158368296 158369458 0.2 [{'connected_gene': 'OR10T2', 'score': 11.2}, {'connected_gene': 'CD1E', 'score': 0.37}]
chr1 GH01I158399 158399378 158399437 0.7 [{'connected_gene': 'OR10T2', 'score': 550.77}, {'connected_gene': 'CD1E', 'score': 0.25}]
chr1 GH01I158366 158366393 158367242 0.2 [{'connected_gene': 'OR10T2', 'score': 11.2}, {'connected_gene': 'OR10K2', 'score': 9.92}, {'connected_gene': 'OR10X1', 'score': 9.48}, {'connected_gene': 'CD1E', 'score': 0.39}]
chr1 GH01I158434 158434313 158437493 0.31 [{'connected_gene': 'OR10T2', 'score': 10.9}, {'connected_gene': 'OR10R2', 'score': 10.69}, {'connected_gene': 'OR6K2', 'score': 9.37}, {'connected_gene': 'OR10X1', 'score': 9.32}, {'connected_gene': 'CD1B', 'score': 7.14}, {'connected_gene': 'OR10K2', 'score': 0.44}, {'connected_gene': 'OR10T1P', 'score': 0.39}]
chr1 GH01I158493 158493046 158493397 0.26 [{'connected_gene': 'ENSG00000236656', 'score': 550.77}, {'connected_gene': 'CD1E', 'score': 15.21}, {'connected_gene': 'SPTA1', 'score': 7.05}, {'connected_gene': 'OR6N1', 'score': 5.51}, {'connected_gene': 'CD1B', 'score': 4.28}, {'connected_gene': 'OR10T2', 'score': 2.63}, {'connected_gene': 'OR10R3P', 'score': 0.77}]