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
ENST00000263665 [[74311718, 74313652], [74315631, 74315800], [74316416, 74316529], [74334455, 74334642], [74344271, 74344387], [74347107, 74347342], [74349018, 74349089], [74350548, 74350698], [74350797, 74350956], [74351840, 74351958], [74383885, 74384061], [74385681, 74385809], [74411040, 74411191], [74413617, 74413747], [74414716, 74414853], [74418339, 74418524], [74419039, 74419142], [74420346, 74420550], [74473995, 74474091], [74535606, 74535782], [74548809, 74548936], [74570208, 74570291]] [[74313551, 74313652], [74315631, 74315800], [74316416, 74316529], [74334455, 74334642], [74344271, 74344387], [74347107, 74347342], [74349018, 74349089], [74350548, 74350698], [74350797, 74350956], [74351840, 74351958], [74383885, 74384061], [74385681, 74385809], [74411040, 74411191], [74413617, 74413747], [74414716, 74414853], [74418339, 74418524], [74419039, 74419142], [74420346, 74420550], [74473995, 74474091], [74535606, 74535782], [74548809, 74548936], [74570208, 74570263]]
ENST00000477856 [[74313535, 74313652], [74315631, 74315800], [74316416, 74316690]] None
NM_020872 [[74311718, 74313652], [74315631, 74315800], [74316416, 74316529], [74334455, 74334642], [74344271, 74344387], [74347107, 74347342], [74349018, 74349089], [74350548, 74350698], [74350797, 74350956], [74351840, 74351958], [74383885, 74384061], [74385681, 74385809], [74411040, 74411191], [74413617, 74413747], [74414716, 74414853], [74418339, 74418524], [74419039, 74419142], [74420346, 74420550], [74473995, 74474091], [74535606, 74535782], [74548809, 74548936], [74570208, 74570291]] [[74313551, 74313652], [74315631, 74315800], [74316416, 74316529], [74334455, 74334642], [74344271, 74344387], [74347107, 74347342], [74349018, 74349089], [74350548, 74350698], [74350797, 74350956], [74351840, 74351958], [74383885, 74384061], [74385681, 74385809], [74411040, 74411191], [74413617, 74413747], [74414716, 74414853], [74418339, 74418524], [74419039, 74419142], [74420346, 74420550], [74473995, 74474091], [74535606, 74535782], [74548809, 74548936], [74570208, 74570263]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I074633 74633972 74635998 0.59 [{'connected_gene': 'CNTN3', 'score': 8.59}, {'connected_gene': 'FAM86DP', 'score': 4.73}, {'connected_gene': 'LOC105377166', 'score': 0.34}, {'connected_gene': 'GC03P074677', 'score': 0.26}]
chr3 GH03I074638 74638921 74641242 0.31 [{'connected_gene': 'CNTN3', 'score': 8.64}, {'connected_gene': 'HNRNPA3P6', 'score': 5.14}, {'connected_gene': 'FAM86DP', 'score': 4.74}, {'connected_gene': 'LOC105377166', 'score': 0.31}, {'connected_gene': 'GC03P074677', 'score': 0.28}]
chr3 GH03I074620 74620514 74625673 0.38 [{'connected_gene': 'CNTN3', 'score': 5.11}, {'connected_gene': 'LINC02018', 'score': 4.34}, {'connected_gene': 'LOC105377166', 'score': 0.44}, {'connected_gene': 'GC03P074677', 'score': 0.23}]
chr3 GH03I074613 74613689 74615256 0.86 [{'connected_gene': 'CNTN3', 'score': 557.03}, {'connected_gene': 'LOC105377166', 'score': 550.77}]
chr3 GH03I074531 74531425 74532228 0.4 [{'connected_gene': 'CNTN3', 'score': 0.18}, {'connected_gene': 'PIR33009', 'score': 0.17}]
chr3 GH03I074536 74536934 74537893 0.2 [{'connected_gene': 'CNTN3', 'score': 0.18}, {'connected_gene': 'PIR33009', 'score': 0.16}]
chr3 GH03I074538 74538035 74539087 0.2 [{'connected_gene': 'CNTN3', 'score': 0.18}, {'connected_gene': 'PIR33009', 'score': 0.16}]
chr3 GH03I074532 74532530 74532719 0.58 [{'connected_gene': 'CNTN3', 'score': 0.18}, {'connected_gene': 'PIR33009', 'score': 0.17}]
chr3 GH03I074521 74521113 74521172 0.68 [{'connected_gene': 'CNTN3', 'score': 550.16}, {'connected_gene': 'PIR33009', 'score': 0.18}]
chr3 GH03I074598 74598728 74600745 0.49 [{'connected_gene': 'CNTN3', 'score': 0.39}, {'connected_gene': 'PIR33009', 'score': 0.1}]
chr3 GH03I074347 74347223 74348736 0.57 [{'connected_gene': 'GC03M074276', 'score': 0.44}, {'connected_gene': 'PIR38692', 'score': 0.44}, {'connected_gene': 'CNTN3', 'score': 0.06}]
chr3 GH03I074415 74415870 74415999 0.38 [{'connected_gene': 'PIR33009', 'score': 0.31}, {'connected_gene': 'PIR38692', 'score': 0.22}, {'connected_gene': 'CNTN3', 'score': 0.08}]
chr3 GH03I074390 74390376 74390432 0.22 [{'connected_gene': 'PIR38692', 'score': 0.29}, {'connected_gene': 'PIR33009', 'score': 0.22}, {'connected_gene': 'CNTN3', 'score': 0.07}]
chr3 GH03I074402 74402824 74403385 0.31 [{'connected_gene': 'PIR33009', 'score': 0.26}, {'connected_gene': 'PIR38692', 'score': 0.25}, {'connected_gene': 'CNTN3', 'score': 0.08}]