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
ENST00000340384 [[140135664, 140135869], [140136172, 140136281], [140136362, 140136473], [140136947, 140138159]] [[140135812, 140135869], [140136172, 140136281], [140136362, 140136473], [140136947, 140138008]]
ENST00000604929 [[140135739, 140135869], [140136172, 140136281], [140136362, 140138158]] None
NM_006088 [[140135710, 140135869], [140136172, 140136281], [140136362, 140136473], [140136947, 140138159]] [[140135812, 140135869], [140136172, 140136281], [140136362, 140136473], [140136947, 140138008]]
Promoter
Chrom Start End Description
chr9 140135729 140135748 CAGE_peak_1_at_TUBB4B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I137243 137243489 137245047 1.02 [{'connected_gene': 'INPP5E', 'score': 20.81}, {'connected_gene': 'ANAPC2', 'score': 20.65}, {'connected_gene': 'DPH7', 'score': 17.08}, {'connected_gene': 'SNAPC4', 'score': 14.7}, {'connected_gene': 'SNHG7', 'score': 13.94}, {'connected_gene': 'FAM166A', 'score': 12.03}, {'connected_gene': 'EXD3', 'score': 12.0}, {'connected_gene': 'ZMYND19', 'score': 10.71}, {'connected_gene': 'SDCCAG3', 'score': 10.26}, {'connected_gene': 'ARRDC1-AS1', 'score': 9.89}, {'connected_gene': 'LOC651337', 'score': 9.86}, {'connected_gene': 'UAP1L1', 'score': 4.69}, {'connected_gene': 'TUBB4B', 'score': 0.77}, {'connected_gene': 'STPG3', 'score': 0.44}]
chr9 GH09I137247 137247740 137247799 0.68 [{'connected_gene': 'FAM166A', 'score': 550.77}, {'connected_gene': 'STPG3', 'score': 0.77}, {'connected_gene': 'TUBB4B', 'score': 0.44}]
chr9 GH09I137248 137248618 137248839 0.22 [{'connected_gene': 'LCNL1', 'score': 2.85}, {'connected_gene': 'ABCA2', 'score': 2.64}, {'connected_gene': 'SLC34A3', 'score': 2.32}, {'connected_gene': 'STPG3', 'score': 0.77}, {'connected_gene': 'FAM166A', 'score': 0.77}, {'connected_gene': 'TUBB4B', 'score': 0.44}]
chr9 GH09I137265 137265665 137267574 0.49 [{'connected_gene': 'NELFB', 'score': 23.82}, {'connected_gene': 'TUBB4B', 'score': 13.39}, {'connected_gene': 'SLC34A3', 'score': 13.35}, {'connected_gene': 'NOXA1', 'score': 11.63}, {'connected_gene': 'EXD3', 'score': 11.32}, {'connected_gene': 'TOR4A', 'score': 0.39}]
chr9 GH09I137233 137233373 137243238 2.65 [{'connected_gene': 'TUBB4B', 'score': 550.77}, {'connected_gene': 'EHMT1', 'score': 90.39}, {'connected_gene': 'SDCCAG3', 'score': 59.97}, {'connected_gene': 'ANAPC2', 'score': 50.98}, {'connected_gene': 'NDOR1', 'score': 50.56}, {'connected_gene': 'DPH7', 'score': 40.53}, {'connected_gene': 'INPP5E', 'score': 40.02}, {'connected_gene': 'LOC651337', 'score': 36.84}, {'connected_gene': 'MAN1B1', 'score': 26.89}, {'connected_gene': 'SNHG7', 'score': 26.01}, {'connected_gene': 'SEC16A', 'score': 26.0}, {'connected_gene': 'EXD3', 'score': 13.5}, {'connected_gene': 'TRAF2', 'score': 10.75}, {'connected_gene': 'TMEM203', 'score': 10.34}, {'connected_gene': 'RABL6', 'score': 10.31}, {'connected_gene': 'NELFB', 'score': 8.98}, {'connected_gene': 'LCN15', 'score': 8.35}, {'connected_gene': 'ABCA2', 'score': 7.81}, {'connected_gene': 'TOR4A', 'score': 6.36}, {'connected_gene': 'UAP1L1', 'score': 6.25}, {'connected_gene': 'RNF224', 'score': 5.79}, {'connected_gene': 'CYSRT1', 'score': 5.23}, {'connected_gene': 'MRPL41', 'score': 5.19}, {'connected_gene': 'ZMYND19', 'score': 4.53}, {'connected_gene': 'PNPLA7', 'score': 3.77}, {'connected_gene': 'TPRN', 'score': 3.5}, {'connected_gene': 'LCNL1', 'score': 3.04}, {'connected_gene': 'ENTPD8', 'score': 2.25}, {'connected_gene': 'RNF208', 'score': 1.83}, {'connected_gene': 'DPP7', 'score': 1.81}, {'connected_gene': 'GRIN1', 'score': 1.71}, {'connected_gene': 'AJM1', 'score': 1.66}, {'connected_gene': 'NPDC1', 'score': 1.59}, {'connected_gene': 'NOXA1', 'score': 1.58}, {'connected_gene': 'PTGDS', 'score': 1.41}, {'connected_gene': 'ENTPD2', 'score': 1.26}, {'connected_gene': 'NSMF', 'score': 1.23}, {'connected_gene': 'SLC34A3', 'score': 0.44}]