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
ENST00000519262 [[58907067, 58907365], [58944164, 58944262], [58988093, 58988182], [59058465, 59058558]] None
ENST00000361488 [[58907112, 58907365], [58944164, 58944262], [58955742, 58955858], [58988093, 58988182], [59058465, 59061347]] [[59058789, 59059902]]
ENST00000520369 [[58907126, 58907365], [58944164, 58944262], [58988093, 58988182], [59110389, 59110716], [59116073, 59116838]] None
ENST00000522059 [[58944174, 58944262], [58988093, 58988182], [58989685, 58989773], [59058465, 59058599]] None
ENST00000518427 [[58982765, 58982946], [58988093, 58988182]] None
ENST00000523486 [[58982785, 58982921], [58988093, 58988182], [59101876, 59101975], [59110389, 59110651]] None
ENST00000521413 [[58982876, 58982921], [58988093, 58988182], [58989685, 58989773], [59058465, 59058596]] None
NM_147189 [[58907112, 58907365], [58944164, 58944262], [58955742, 58955858], [58988093, 58988182], [59058465, 59062277]] [[59058789, 59059902]]
Promoter
Chrom Start End Description
chr8 58907015 58907044 CAGE_peak_3_at_FAM110B_5end
chr8 58907055 58907099 CAGE_peak_1_at_FAM110B_5end
chr8 58907104 58907131 CAGE_peak_2_at_FAM110B_5end
chr8 58907149 58907161 CAGE_peak_5_at_FAM110B_5end
chr8 58982747 58982814 CAGE_peak_4_at_FAM110B_5end
chr8 59060744 59060748 CAGE_peak_7_at_FAM110B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I058073 58073639 58074938 0.76 [{'connected_gene': 'FAM110B', 'score': 12.41}, {'connected_gene': 'CYP7A1', 'score': 4.66}, {'connected_gene': 'ENSG00000253116', 'score': 0.29}, {'connected_gene': 'ENSG00000253523', 'score': 0.26}, {'connected_gene': 'GC08M057799', 'score': 0.18}]
chr8 GH08I058377 58377882 58379175 1.09 [{'connected_gene': 'FAM110B', 'score': 11.14}, {'connected_gene': 'UBXN2B', 'score': 7.96}, {'connected_gene': 'GC08P058299', 'score': 0.18}]
chr8 GH08I058195 58195542 58197365 0.62 [{'connected_gene': 'FAM110B', 'score': 4.56}, {'connected_gene': 'GC08M057799', 'score': 0.26}, {'connected_gene': 'LOC101929528', 'score': 0.18}]
chr8 GH08I058285 58285222 58285371 0.59 [{'connected_gene': 'FAM110B', 'score': 8.08}, {'connected_gene': 'GC08P058299', 'score': 0.39}, {'connected_gene': 'LOC101929528', 'score': 0.39}]
chr8 GH08I058233 58233537 58236613 0.84 [{'connected_gene': 'FAM110B', 'score': 10.61}, {'connected_gene': 'LOC101929528', 'score': 0.28}, {'connected_gene': 'GC08M057799', 'score': 0.18}]
chr8 GH08I057949 57949589 57949601 0.22 [{'connected_gene': 'FAM110B', 'score': 9.55}, {'connected_gene': 'LINC01602', 'score': 0.31}, {'connected_gene': 'GC08P057898', 'score': 0.23}, {'connected_gene': 'LOC105375856', 'score': 0.16}, {'connected_gene': 'GC08M057799', 'score': 0.08}]
chr8 GH08I057933 57933601 57934400 0.69 [{'connected_gene': 'FAM110B', 'score': 5.69}, {'connected_gene': 'GC08P057898', 'score': 0.28}, {'connected_gene': 'LINC01602', 'score': 0.26}, {'connected_gene': 'LOC105375856', 'score': 0.18}, {'connected_gene': 'GC08M057799', 'score': 0.07}]
chr8 GH08I058072 58072741 58073522 0.38 [{'connected_gene': 'FAM110B', 'score': 12.41}, {'connected_gene': 'ENSG00000253116', 'score': 0.29}, {'connected_gene': 'ENSG00000253523', 'score': 0.26}, {'connected_gene': 'GC08M057799', 'score': 0.18}]
chr8 GH08I057993 57993922 57998473 1.98 [{'connected_gene': 'FAM110B', 'score': 563.43}, {'connected_gene': 'GC08P057996', 'score': 0.77}, {'connected_gene': 'ENSG00000253523', 'score': 0.28}, {'connected_gene': 'GC08M057799', 'score': 0.1}]
chr8 GH08I058077 58077670 58077729 0.7 [{'connected_gene': 'FAM110B', 'score': 550.18}, {'connected_gene': 'ENSG00000253116', 'score': 0.31}, {'connected_gene': 'ENSG00000253523', 'score': 0.25}, {'connected_gene': 'GC08M057799', 'score': 0.18}]
chr8 GH08I058052 58051480 58051622 0.51 [{'connected_gene': 'FAM110B', 'score': 11.54}, {'connected_gene': 'ENSG00000253523', 'score': 0.37}, {'connected_gene': 'ENSG00000253116', 'score': 0.23}, {'connected_gene': 'GC08M057799', 'score': 0.15}]
chr8 GH08I058062 58062682 58063360 0.2 [{'connected_gene': 'FAM110B', 'score': 11.36}, {'connected_gene': 'ENSG00000253523', 'score': 0.29}, {'connected_gene': 'ENSG00000253116', 'score': 0.26}, {'connected_gene': 'GC08M057799', 'score': 0.16}]
chr8 GH08I058060 58060681 58061651 0.2 [{'connected_gene': 'FAM110B', 'score': 11.42}, {'connected_gene': 'ENSG00000253523', 'score': 0.31}, {'connected_gene': 'ENSG00000253116', 'score': 0.25}, {'connected_gene': 'GC08M057799', 'score': 0.16}]
chr8 GH08I058037 58037456 58039973 0.89 [{'connected_gene': 'FAM110B', 'score': 11.51}, {'connected_gene': 'ENSG00000253523', 'score': 0.44}, {'connected_gene': 'ENSG00000253116', 'score': 0.2}, {'connected_gene': 'GC08M057799', 'score': 0.13}]
chr8 GH08I058066 58066582 58070871 1.35 [{'connected_gene': 'FAM110B', 'score': 11.35}, {'connected_gene': 'ENSG00000253523', 'score': 0.28}, {'connected_gene': 'ENSG00000253116', 'score': 0.28}, {'connected_gene': 'GC08M057799', 'score': 0.17}]
chr8 GH08I058086 58086464 58087901 0.38 [{'connected_gene': 'FAM110B', 'score': 11.08}, {'connected_gene': 'ENSG00000253116', 'score': 0.37}, {'connected_gene': 'ENSG00000253523', 'score': 0.23}, {'connected_gene': 'GC08M057799', 'score': 0.2}]
chr8 GH08I058051 58051868 58052286 0.31 [{'connected_gene': 'FAM110B', 'score': 11.54}, {'connected_gene': 'ENSG00000253523', 'score': 0.37}, {'connected_gene': 'ENSG00000253116', 'score': 0.23}, {'connected_gene': 'GC08M057799', 'score': 0.15}]
chr8 GH08I058128 58128161 58129794 0.99 [{'connected_gene': 'SDCBP', 'score': 8.7}, {'connected_gene': 'RPL26P26', 'score': 0.37}, {'connected_gene': 'GC08M057799', 'score': 0.31}, {'connected_gene': 'FAM110B', 'score': 0.12}]
chr8 GH08I058172 58172142 58173634 1.09 [{'connected_gene': 'RPS26P7', 'score': 4.39}, {'connected_gene': 'GC08M057799', 'score': 0.37}, {'connected_gene': 'LOC101929528', 'score': 0.15}, {'connected_gene': 'FAM110B', 'score': 0.1}]
chr8 GH08I058254 58254935 58258308 1.2 [{'connected_gene': 'UBXN2B', 'score': 6.98}, {'connected_gene': 'FAM110B', 'score': 6.75}, {'connected_gene': 'LOC101929528', 'score': 5.82}, {'connected_gene': 'GC08M057799', 'score': 0.15}]
chr8 GH08I058309 58309572 58310623 0.69 [{'connected_gene': 'UBXN2B', 'score': 8.3}, {'connected_gene': 'FAM110B', 'score': 7.01}, {'connected_gene': 'GC08P058299', 'score': 0.39}]
chr8 GH08I058119 58119922 58120151 0.62 [{'connected_gene': 'RPL26P26', 'score': 0.44}, {'connected_gene': 'GC08M057799', 'score': 0.28}, {'connected_gene': 'FAM110B', 'score': 0.13}]
chr8 GH08I058130 58130502 58130651 0.74 [{'connected_gene': 'RPL26P26', 'score': 0.37}, {'connected_gene': 'GC08M057799', 'score': 0.31}, {'connected_gene': 'FAM110B', 'score': 0.12}]
chr8 GH08I058131 58131965 58132997 0.38 [{'connected_gene': 'RPL26P26', 'score': 0.37}, {'connected_gene': 'GC08M057799', 'score': 0.34}, {'connected_gene': 'FAM110B', 'score': 0.12}]
chr8 GH08I058121 58121023 58122622 0.4 [{'connected_gene': 'RPL26P26', 'score': 0.44}, {'connected_gene': 'GC08M057799', 'score': 0.29}, {'connected_gene': 'FAM110B', 'score': 0.13}]
chr8 GH08I058133 58133166 58134123 0.2 [{'connected_gene': 'RPL26P26', 'score': 0.37}, {'connected_gene': 'GC08M057799', 'score': 0.34}, {'connected_gene': 'FAM110B', 'score': 0.12}]
chr8 GH08I058124 58124152 58124863 0.31 [{'connected_gene': 'RPL26P26', 'score': 0.39}, {'connected_gene': 'GC08M057799', 'score': 0.29}, {'connected_gene': 'FAM110B', 'score': 0.13}]
chr8 GH08I058035 58035314 58036422 0.38 [{'connected_gene': 'ENSG00000253523', 'score': 0.77}, {'connected_gene': 'FAM110B', 'score': 0.26}, {'connected_gene': 'ENSG00000253116', 'score': 0.19}, {'connected_gene': 'GC08M057799', 'score': 0.13}]
chr8 GH08I058033 58033740 58035068 0.38 [{'connected_gene': 'ENSG00000253523', 'score': 550.77}, {'connected_gene': 'FAM110B', 'score': 0.28}, {'connected_gene': 'ENSG00000253116', 'score': 0.19}, {'connected_gene': 'GC08M057799', 'score': 0.13}]
chr8 GH08I058081 58081920 58082737 0.31 [{'connected_gene': 'ENSG00000253116', 'score': 0.34}, {'connected_gene': 'ENSG00000253523', 'score': 0.25}, {'connected_gene': 'GC08M057799', 'score': 0.19}, {'connected_gene': 'FAM110B', 'score': 0.17}]
chr8 GH08I057994 57993162 57993311 0.52 [{'connected_gene': 'GC08P057996', 'score': 550.77}, {'connected_gene': 'FAM110B', 'score': 550.77}, {'connected_gene': 'GC08M057799', 'score': 0.1}]
chr8 GH08I058099 58099823 58100648 0.2 [{'connected_gene': 'ENSG00000253116', 'score': 0.44}, {'connected_gene': 'GC08M057799', 'score': 0.22}, {'connected_gene': 'ENSG00000253523', 'score': 0.2}, {'connected_gene': 'FAM110B', 'score': 0.14}]
chr8 GH08I058084 58084489 58085330 0.2 [{'connected_gene': 'ENSG00000253116', 'score': 0.34}, {'connected_gene': 'ENSG00000253523', 'score': 0.23}, {'connected_gene': 'GC08M057799', 'score': 0.19}, {'connected_gene': 'FAM110B', 'score': 0.16}]
chr8 GH08I058090 58090794 58091776 0.43 [{'connected_gene': 'ENSG00000253116', 'score': 0.37}, {'connected_gene': 'ENSG00000253523', 'score': 0.22}, {'connected_gene': 'GC08M057799', 'score': 0.21}, {'connected_gene': 'FAM110B', 'score': 0.15}]
chr8 GH08I058107 58107995 58109362 0.2 [{'connected_gene': 'GC08M058114', 'score': 0.77}, {'connected_gene': 'ENSG00000253116', 'score': 0.77}, {'connected_gene': 'GC08M057799', 'score': 0.25}, {'connected_gene': 'FAM110B', 'score': 0.14}]
chr8 GH08I058101 58101615 58102376 0.31 [{'connected_gene': 'ENSG00000253116', 'score': 0.77}, {'connected_gene': 'GC08M057799', 'score': 0.23}, {'connected_gene': 'ENSG00000253523', 'score': 0.2}, {'connected_gene': 'FAM110B', 'score': 0.14}]
chr8 GH08I058057 58057722 58057851 0.89 [{'connected_gene': 'ENSG00000253523', 'score': 0.31}, {'connected_gene': 'ENSG00000253116', 'score': 0.25}, {'connected_gene': 'FAM110B', 'score': 0.21}, {'connected_gene': 'GC08M057799', 'score': 0.15}]
chr8 GH08I058030 58030458 58031381 0.88 [{'connected_gene': 'ENSG00000253523', 'score': 550.77}, {'connected_gene': 'FAM110B', 'score': 0.28}, {'connected_gene': 'GC08M057799', 'score': 0.13}]
chr8 GH08I058097 58097904 58099036 1 [{'connected_gene': 'ENSG00000253116', 'score': 0.44}, {'connected_gene': 'GC08M057799', 'score': 0.22}, {'connected_gene': 'ENSG00000253523', 'score': 0.2}, {'connected_gene': 'FAM110B', 'score': 0.15}]
chr8 GH08I058071 58071322 58071471 0.66 [{'connected_gene': 'ENSG00000253116', 'score': 0.29}, {'connected_gene': 'ENSG00000253523', 'score': 0.28}, {'connected_gene': 'FAM110B', 'score': 0.18}, {'connected_gene': 'GC08M057799', 'score': 0.18}]
chr8 GH08I058083 58083462 58084365 0.2 [{'connected_gene': 'ENSG00000253116', 'score': 0.34}, {'connected_gene': 'ENSG00000253523', 'score': 0.23}, {'connected_gene': 'GC08M057799', 'score': 0.19}, {'connected_gene': 'FAM110B', 'score': 0.17}]
chr8 GH08I058109 58109459 58109980 0.2 [{'connected_gene': 'GC08M058114', 'score': 0.77}, {'connected_gene': 'ENSG00000253116', 'score': 0.77}, {'connected_gene': 'GC08M057799', 'score': 0.25}, {'connected_gene': 'FAM110B', 'score': 0.13}]
chr8 GH08I058075 58075874 58076819 0.31 [{'connected_gene': 'ENSG00000253116', 'score': 0.31}, {'connected_gene': 'ENSG00000253523', 'score': 0.26}, {'connected_gene': 'GC08M057799', 'score': 0.18}, {'connected_gene': 'FAM110B', 'score': 0.18}]
chr8 GH08I058022 58022711 58022851 0.43 [{'connected_gene': 'ENSG00000253523', 'score': 0.44}, {'connected_gene': 'FAM110B', 'score': 0.31}, {'connected_gene': 'GC08M057799', 'score': 0.12}]
chr8 GH08I058103 58103498 58104008 0.2 [{'connected_gene': 'ENSG00000253116', 'score': 0.77}, {'connected_gene': 'GC08M057799', 'score': 0.23}, {'connected_gene': 'ENSG00000253523', 'score': 0.19}, {'connected_gene': 'FAM110B', 'score': 0.14}]
chr8 GH08I058102 58102482 58103175 0.2 [{'connected_gene': 'ENSG00000253116', 'score': 0.77}, {'connected_gene': 'GC08M057799', 'score': 0.23}, {'connected_gene': 'ENSG00000253523', 'score': 0.19}, {'connected_gene': 'FAM110B', 'score': 0.14}]
chr8 GH08I058078 58078522 58080190 1.35 [{'connected_gene': 'ENSG00000253116', 'score': 0.31}, {'connected_gene': 'ENSG00000253523', 'score': 0.25}, {'connected_gene': 'GC08M057799', 'score': 0.18}, {'connected_gene': 'FAM110B', 'score': 0.18}]
chr8 GH08I058155 58155001 58157864 0.93 [{'connected_gene': 'GC08M057799', 'score': 550.77}, {'connected_gene': 'SDCBP', 'score': 6.25}, {'connected_gene': 'LOC101929528', 'score': 0.13}, {'connected_gene': 'FAM110B', 'score': 0.1}]
chr8 GH08I058187 58187166 58187504 0.2 [{'connected_gene': 'GC08M057799', 'score': 0.29}, {'connected_gene': 'LOC101929528', 'score': 0.18}, {'connected_gene': 'FAM110B', 'score': 0.08}]
chr8 GH08I058198 58198042 58198191 0.2 [{'connected_gene': 'GC08M057799', 'score': 0.26}, {'connected_gene': 'LOC101929528', 'score': 0.19}, {'connected_gene': 'FAM110B', 'score': 0.08}]
chr8 GH08I058191 58191562 58191691 0.2 [{'connected_gene': 'GC08M057799', 'score': 0.28}, {'connected_gene': 'LOC101929528', 'score': 0.18}, {'connected_gene': 'FAM110B', 'score': 0.08}]
chr8 GH08I058137 58137002 58137151 0.72 [{'connected_gene': 'GC08M057799', 'score': 0.37}, {'connected_gene': 'RPL26P26', 'score': 0.34}, {'connected_gene': 'FAM110B', 'score': 0.11}]
chr8 GH08I058114 58114326 58115015 0.2 [{'connected_gene': 'GC08M058114', 'score': 550.77}, {'connected_gene': 'RPL26P26', 'score': 550.77}, {'connected_gene': 'FAM110B', 'score': 12.02}, {'connected_gene': 'GC08M057799', 'score': 0.26}]
chr8 GH08I058145 58145002 58146800 1.04 [{'connected_gene': 'GC08M057799', 'score': 0.44}, {'connected_gene': 'RPL26P26', 'score': 0.29}, {'connected_gene': 'FAM110B', 'score': 0.1}]
chr8 GH08I058140 58140386 58142361 1.14 [{'connected_gene': 'GC08M057799', 'score': 0.39}, {'connected_gene': 'RPL26P26', 'score': 0.31}, {'connected_gene': 'FAM110B', 'score': 0.11}]
chr8 GH08I058136 58136150 58136787 0.57 [{'connected_gene': 'GC08M057799', 'score': 0.37}, {'connected_gene': 'RPL26P26', 'score': 0.34}, {'connected_gene': 'FAM110B', 'score': 0.11}]
chr8 GH08I058138 58137502 58138454 0.63 [{'connected_gene': 'GC08M057799', 'score': 0.37}, {'connected_gene': 'RPL26P26', 'score': 0.34}, {'connected_gene': 'FAM110B', 'score': 0.11}]