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
ENST00000366630 [[232533710, 232535019], [232538137, 232538219], [232539193, 232539317], [232539870, 232539924], [232551239, 232551371], [232561334, 232561554], [232564156, 232564310], [232567992, 232568217], [232574853, 232575242], [232577036, 232577140], [232577513, 232577614], [232579347, 232579431], [232581274, 232581532], [232596632, 232596907], [232600585, 232601162], [232607116, 232607274], [232615372, 232615476], [232619537, 232619712], [232626619, 232626808], [232629272, 232629406], [232649602, 232651354], [232697214, 232697304]] [[232534872, 232535019], [232538137, 232538219], [232539193, 232539317], [232539870, 232539924], [232551239, 232551371], [232561334, 232561554], [232564156, 232564310], [232567992, 232568217], [232574853, 232575242], [232577036, 232577140], [232577513, 232577614], [232579347, 232579431], [232581274, 232581532], [232596632, 232596907], [232600585, 232601162], [232607116, 232607274], [232615372, 232615476], [232619537, 232619712], [232626619, 232626808], [232629272, 232629406], [232649602, 232651085]]
ENST00000262861 [[232533713, 232535019], [232538137, 232538219], [232539193, 232539317], [232539870, 232539924], [232551239, 232551371], [232561334, 232561554], [232564156, 232564310], [232567992, 232568217], [232574853, 232575242], [232577036, 232577140], [232577513, 232577614], [232579347, 232579431], [232581274, 232581532], [232596632, 232596907], [232600585, 232601162], [232607116, 232607274], [232615372, 232615476], [232619537, 232619712], [232626619, 232626808], [232629272, 232629406], [232649602, 232651312]] [[232534872, 232535019], [232538137, 232538219], [232539193, 232539317], [232539870, 232539924], [232551239, 232551371], [232561334, 232561554], [232564156, 232564310], [232567992, 232568217], [232574853, 232575242], [232577036, 232577140], [232577513, 232577614], [232579347, 232579431], [232581274, 232581532], [232596632, 232596907], [232600585, 232601162], [232607116, 232607274], [232615372, 232615476], [232619537, 232619712], [232626619, 232626808], [232629272, 232629406], [232649602, 232651085]]
ENST00000308942 [[232534455, 232535019], [232538137, 232538219], [232539193, 232539317], [232551239, 232551371], [232561334, 232561554], [232564156, 232564310], [232567992, 232568217], [232574853, 232575242], [232577036, 232577140], [232577513, 232577614], [232579347, 232579431], [232581274, 232581532], [232596632, 232596907], [232597938, 232598163]] [[232534872, 232535019], [232538137, 232538219], [232539193, 232539317], [232551239, 232551371], [232561334, 232561554], [232564156, 232564310], [232567992, 232568217], [232574853, 232575242], [232577036, 232577140], [232577513, 232577614], [232579347, 232579431], [232581274, 232581532], [232596632, 232596907], [232597938, 232597980]]
ENST00000494056 [[232534887, 232535019], [232538137, 232538512]] None
ENST00000495863 [[232539278, 232539317], [232551239, 232551616]] None
ENST00000486472 [[232626431, 232626808], [232629272, 232629406]] None
NM_020808 [[232533710, 232535019], [232538137, 232538219], [232539193, 232539317], [232539870, 232539924], [232551239, 232551371], [232561334, 232561554], [232564156, 232564310], [232567992, 232568217], [232574853, 232575242], [232577036, 232577140], [232577513, 232577614], [232579347, 232579431], [232581274, 232581532], [232596632, 232596907], [232600585, 232601162], [232607116, 232607274], [232615372, 232615476], [232619537, 232619712], [232626619, 232626808], [232629272, 232629406], [232649602, 232651354]] [[232534872, 232535019], [232538137, 232538219], [232539193, 232539317], [232539870, 232539924], [232551239, 232551371], [232561334, 232561554], [232564156, 232564310], [232567992, 232568217], [232574853, 232575242], [232577036, 232577140], [232577513, 232577614], [232579347, 232579431], [232581274, 232581532], [232596632, 232596907], [232600585, 232601162], [232607116, 232607274], [232615372, 232615476], [232619537, 232619712], [232626619, 232626808], [232629272, 232629406], [232649602, 232651085]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I232459 232459545 232460390 0.2 [{'connected_gene': 'MAP3K21', 'score': 4.78}, {'connected_gene': 'PIR51388', 'score': 0.25}, {'connected_gene': 'GC01P232625', 'score': 0.1}, {'connected_gene': 'SIPA1L2', 'score': 0.09}]
chr1 GH01I232511 232511315 232511464 0.89 [{'connected_gene': 'NTPCR', 'score': 9.96}, {'connected_gene': 'PIR51388', 'score': 0.15}, {'connected_gene': 'GC01P232625', 'score': 0.14}, {'connected_gene': 'SIPA1L2', 'score': 0.13}]
chr1 GH01I232578 232578002 232580599 1.03 [{'connected_gene': 'NTPCR', 'score': 5.01}, {'connected_gene': 'GC01P232625', 'score': 0.25}, {'connected_gene': 'SIPA1L2', 'score': 0.23}, {'connected_gene': 'PIR51388', 'score': 0.1}]
chr1 GH01I232515 232515537 232515596 0.5 [{'connected_gene': 'SIPA1L2', 'score': 550.13}, {'connected_gene': 'PIR51388', 'score': 0.15}, {'connected_gene': 'GC01P232625', 'score': 0.14}]
chr1 GH01I232589 232589400 232591799 0.93 [{'connected_gene': 'SIPA1L2', 'score': 1.53}, {'connected_gene': 'GC01P232625', 'score': 0.29}, {'connected_gene': 'PIR51388', 'score': 0.1}]
chr1 GH01I232627 232627401 232631400 1.16 [{'connected_gene': 'SIPA1L2', 'score': 550.77}, {'connected_gene': 'GC01P232625', 'score': 0.77}]
chr1 GH01I232612 232612947 232615400 1.05 [{'connected_gene': 'RPS7P3', 'score': 13.63}, {'connected_gene': 'NTPCR', 'score': 9.97}, {'connected_gene': 'GC01P232625', 'score': 0.39}, {'connected_gene': 'SIPA1L2', 'score': 0.37}, {'connected_gene': 'PIR51388', 'score': 0.08}]
chr1 GH01I232599 232599292 232600824 1.43 [{'connected_gene': 'RPS7P3', 'score': 9.95}, {'connected_gene': 'GC01P232625', 'score': 0.31}, {'connected_gene': 'SIPA1L2', 'score': 0.29}, {'connected_gene': 'PIR51388', 'score': 0.09}]
chr1 GH01I232618 232618184 232623744 1.36 [{'connected_gene': 'RPS7P3', 'score': 18.26}, {'connected_gene': 'GC01P232625', 'score': 0.77}, {'connected_gene': 'SIPA1L2', 'score': 0.44}, {'connected_gene': 'PIR51388', 'score': 0.08}]
chr1 GH01I232684 232684601 232684801 0.57 [{'connected_gene': 'RPS7P3', 'score': 10.68}, {'connected_gene': 'RNU1-74P', 'score': 10.24}, {'connected_gene': 'RNU6-1211P', 'score': 0.37}, {'connected_gene': 'SIPA1L2', 'score': 0.23}]
chr1 GH01I232682 232682355 232682484 0.8 [{'connected_gene': 'RNU6-1211P', 'score': 0.37}, {'connected_gene': 'SIPA1L2', 'score': 0.23}]
chr1 GH01I232667 232667782 232668580 0.43 [{'connected_gene': 'RNU6-1211P', 'score': 0.29}, {'connected_gene': 'SIPA1L2', 'score': 0.28}]
chr1 GH01I232678 232678225 232679119 0.91 [{'connected_gene': 'RNU6-1211P', 'score': 12.3}, {'connected_gene': 'SIPA1L2', 'score': 0.25}]
chr1 GH01I232668 232667315 232667464 0.46 [{'connected_gene': 'RNU6-1211P', 'score': 0.29}, {'connected_gene': 'SIPA1L2', 'score': 0.28}]
chr1 GH01I232530 232530556 232536015 0.52 [{'connected_gene': 'GC01P232625', 'score': 0.16}, {'connected_gene': 'SIPA1L2', 'score': 0.15}, {'connected_gene': 'PIR51388', 'score': 0.13}]
chr1 GH01I232446 232446356 232447157 0.31 [{'connected_gene': 'PIR51388', 'score': 0.29}, {'connected_gene': 'GC01P232625', 'score': 0.1}, {'connected_gene': 'SIPA1L2', 'score': 0.09}]
chr1 GH01I232550 232550587 232552362 0.63 [{'connected_gene': 'GC01P232625', 'score': 0.19}, {'connected_gene': 'SIPA1L2', 'score': 0.18}, {'connected_gene': 'PIR51388', 'score': 0.12}]
chr1 GH01I232613 232612001 232612200 0.43 [{'connected_gene': 'GC01P232625', 'score': 0.39}, {'connected_gene': 'SIPA1L2', 'score': 0.37}, {'connected_gene': 'PIR51388', 'score': 0.08}]
chr1 GH01I232610 232610201 232611800 1.09 [{'connected_gene': 'GC01P232625', 'score': 0.39}, {'connected_gene': 'SIPA1L2', 'score': 0.37}, {'connected_gene': 'PIR51388', 'score': 0.08}]
chr1 GH01I232575 232575201 232575599 0.64 [{'connected_gene': 'GC01P232625', 'score': 0.25}, {'connected_gene': 'SIPA1L2', 'score': 0.22}, {'connected_gene': 'PIR51388', 'score': 0.1}]
chr1 GH01I232429 232429258 232429445 0.51 [{'connected_gene': 'PIR51388', 'score': 0.37}, {'connected_gene': 'GC01P232625', 'score': 0.08}, {'connected_gene': 'SIPA1L2', 'score': 0.08}]
chr1 GH01I232558 232558885 232559580 0.49 [{'connected_gene': 'GC01P232625', 'score': 0.2}, {'connected_gene': 'SIPA1L2', 'score': 0.19}, {'connected_gene': 'PIR51388', 'score': 0.11}]
chr1 GH01I232493 232493498 232496809 0.2 [{'connected_gene': 'PIR51388', 'score': 0.18}, {'connected_gene': 'SIPA1L2', 'score': 0.12}, {'connected_gene': 'GC01P232625', 'score': 0.12}]
chr1 GH01I232486 232486555 232486704 0.43 [{'connected_gene': 'PIR51388', 'score': 0.19}, {'connected_gene': 'GC01P232625', 'score': 0.12}, {'connected_gene': 'SIPA1L2', 'score': 0.11}]
chr1 GH01I232504 232504689 232508585 0.46 [{'connected_gene': 'PIR51388', 'score': 0.16}, {'connected_gene': 'GC01P232625', 'score': 0.13}, {'connected_gene': 'SIPA1L2', 'score': 0.13}]
chr1 GH01I232567 232567899 232569579 0.74 [{'connected_gene': 'GC01P232625', 'score': 0.22}, {'connected_gene': 'SIPA1L2', 'score': 0.21}, {'connected_gene': 'PIR51388', 'score': 0.1}]
chr1 GH01I232418 232418609 232419262 0.2 [{'connected_gene': 'PIR51388', 'score': 0.44}, {'connected_gene': 'GC01P232625', 'score': 0.08}, {'connected_gene': 'SIPA1L2', 'score': 0.08}]
chr1 GH01I232471 232471911 232474104 0.94 [{'connected_gene': 'PIR51388', 'score': 0.22}, {'connected_gene': 'GC01P232625', 'score': 0.1}, {'connected_gene': 'SIPA1L2', 'score': 0.1}]
chr1 GH01I232537 232537614 232539741 1.24 [{'connected_gene': 'GC01P232625', 'score': 0.17}, {'connected_gene': 'SIPA1L2', 'score': 0.16}, {'connected_gene': 'PIR51388', 'score': 0.13}]
chr1 GH01I232555 232555801 232556200 0.51 [{'connected_gene': 'GC01P232625', 'score': 0.2}, {'connected_gene': 'SIPA1L2', 'score': 0.19}, {'connected_gene': 'PIR51388', 'score': 0.11}]
chr1 GH01I232593 232593908 232594636 0.96 [{'connected_gene': 'GC01P232625', 'score': 0.29}, {'connected_gene': 'SIPA1L2', 'score': 0.28}, {'connected_gene': 'PIR51388', 'score': 0.09}]
chr1 GH01I232437 232437763 232438714 0.54 [{'connected_gene': 'PIR51388', 'score': 0.34}, {'connected_gene': 'GC01P232625', 'score': 0.09}, {'connected_gene': 'SIPA1L2', 'score': 0.08}]
chr1 GH01I232529 232529895 232530084 0.73 [{'connected_gene': 'GC01P232625', 'score': 0.15}, {'connected_gene': 'SIPA1L2', 'score': 0.15}, {'connected_gene': 'PIR51388', 'score': 0.13}]
chr1 GH01I232624 232624984 232625344 0.42 [{'connected_gene': 'GC01P232625', 'score': 550.77}, {'connected_gene': 'SIPA1L2', 'score': 0.44}, {'connected_gene': 'PIR51388', 'score': 0.08}]
chr1 GH01I232476 232476655 232476744 0.2 [{'connected_gene': 'PIR51388', 'score': 0.21}, {'connected_gene': 'GC01P232625', 'score': 0.11}, {'connected_gene': 'SIPA1L2', 'score': 0.1}]
chr1 GH01I232447 232447698 232449193 0.2 [{'connected_gene': 'PIR51388', 'score': 0.28}, {'connected_gene': 'GC01P232625', 'score': 0.1}, {'connected_gene': 'SIPA1L2', 'score': 0.09}]
chr1 GH01I232477 232477375 232478534 0.65 [{'connected_gene': 'PIR51388', 'score': 0.21}, {'connected_gene': 'GC01P232625', 'score': 0.11}, {'connected_gene': 'SIPA1L2', 'score': 0.1}]
chr1 GH01I232596 232596801 232597000 0.43 [{'connected_gene': 'GC01P232625', 'score': 0.31}, {'connected_gene': 'SIPA1L2', 'score': 0.29}, {'connected_gene': 'PIR51388', 'score': 0.09}]
chr1 GH01I232417 232417268 232417797 0.2 [{'connected_gene': 'PIR51388', 'score': 0.77}, {'connected_gene': 'GC01P232625', 'score': 0.08}, {'connected_gene': 'SIPA1L2', 'score': 0.08}]
chr1 GH01I232528 232528389 232529504 0.58 [{'connected_gene': 'GC01P232625', 'score': 0.15}, {'connected_gene': 'SIPA1L2', 'score': 0.15}, {'connected_gene': 'PIR51388', 'score': 0.13}]
chr1 GH01I232450 232450776 232453696 0.31 [{'connected_gene': 'PIR51388', 'score': 0.28}, {'connected_gene': 'SIPA1L2', 'score': 0.1}, {'connected_gene': 'GC01P232625', 'score': 0.09}]
chr1 GH01I232415 232415601 232416200 0.2 [{'connected_gene': 'PIR51388', 'score': 0.77}, {'connected_gene': 'GC01P232625', 'score': 0.08}, {'connected_gene': 'SIPA1L2', 'score': 0.08}]
chr1 GH01I232524 232524175 232524264 0.63 [{'connected_gene': 'GC01P232625', 'score': 0.15}, {'connected_gene': 'SIPA1L2', 'score': 0.14}, {'connected_gene': 'PIR51388', 'score': 0.14}]
chr1 GH01I232421 232421692 232424299 0.59 [{'connected_gene': 'PIR51388', 'score': 0.44}, {'connected_gene': 'GC01P232625', 'score': 0.08}, {'connected_gene': 'SIPA1L2', 'score': 0.08}]
chr1 GH01I232458 232458830 232459416 0.46 [{'connected_gene': 'PIR51388', 'score': 0.25}, {'connected_gene': 'GC01P232625', 'score': 0.1}, {'connected_gene': 'SIPA1L2', 'score': 0.09}]
chr1 GH01I232553 232553197 232555686 1 [{'connected_gene': 'GC01P232625', 'score': 0.19}, {'connected_gene': 'SIPA1L2', 'score': 0.18}, {'connected_gene': 'PIR51388', 'score': 0.11}]
chr1 GH01I232414 232414148 232414679 0.2 [{'connected_gene': 'PIR51388', 'score': 550.77}, {'connected_gene': 'SIPA1L2', 'score': 0.08}, {'connected_gene': 'GC01P232625', 'score': 0.08}]
chr1 GH01I232574 232574915 232575144 0.56 [{'connected_gene': 'GC01P232625', 'score': 0.23}, {'connected_gene': 'SIPA1L2', 'score': 0.22}, {'connected_gene': 'PIR51388', 'score': 0.1}]