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
ENST00000343053 [[140149624, 140150063], [140150358, 140150522], [140150780, 140150880], [140151275, 140151506], [140157488, 140157674], [140158696, 140158809], [140160328, 140160431], [140160782, 140160878], [140161395, 140161538], [140161691, 140161798], [140166532, 140166674], [140166958, 140167067], [140167233, 140167998]] [[140149961, 140150063], [140150358, 140150522], [140150780, 140150880], [140151275, 140151506], [140157488, 140157674], [140158696, 140158809], [140160328, 140160431], [140160782, 140160878], [140161395, 140161538], [140161691, 140161798], [140166532, 140166674], [140166958, 140167067], [140167233, 140167380]]
NM_015456 [[140149751, 140150063], [140150358, 140150522], [140150780, 140150880], [140151275, 140151506], [140157488, 140157674], [140158696, 140158809], [140160328, 140160431], [140160782, 140160878], [140161395, 140161538], [140161691, 140161798], [140166532, 140166674], [140166958, 140167067], [140167233, 140168000]] [[140149817, 140150063], [140150358, 140150522], [140150780, 140150880], [140151275, 140151506], [140157488, 140157674], [140158696, 140158809], [140160328, 140160431], [140160782, 140160878], [140161395, 140161538], [140161691, 140161798], [140166532, 140166674], [140166958, 140167067], [140167233, 140167380]]
Promoter
Chrom Start End Description
chr9 140149661 140149674 CAGE_peak_3_at_COBRA1_5end
chr9 140149730 140149826 CAGE_peak_1_at_COBRA1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I137221 137221486 137232704 2.85 [{'connected_gene': 'RNF224', 'score': 556.63}, {'connected_gene': 'SLC34A3', 'score': 555.96}, {'connected_gene': 'EHMT1', 'score': 17.44}, {'connected_gene': 'LOC651337', 'score': 15.59}, {'connected_gene': 'SDCCAG3', 'score': 15.1}, {'connected_gene': 'ANAPC2', 'score': 12.28}, {'connected_gene': 'RNF208', 'score': 7.2}, {'connected_gene': 'CYSRT1', 'score': 7.15}, {'connected_gene': 'NDOR1', 'score': 6.77}, {'connected_gene': 'MRPL41', 'score': 5.76}, {'connected_gene': 'GRIN1', 'score': 3.3}, {'connected_gene': 'FBXW5', 'score': 2.93}, {'connected_gene': 'NSMF', 'score': 2.57}, {'connected_gene': 'NPDC1', 'score': 2.53}, {'connected_gene': 'ARRDC1-AS1', 'score': 2.52}, {'connected_gene': 'DPH7', 'score': 1.92}, {'connected_gene': 'TPRN', 'score': 1.77}, {'connected_gene': 'NELFB', 'score': 1.57}, {'connected_gene': 'RABL6', 'score': 1.51}, {'connected_gene': 'ABCA2', 'score': 1.5}, {'connected_gene': 'TMEM203', 'score': 1.43}, {'connected_gene': 'SSNA1', 'score': 1.43}]
chr9 GH09I137275 137275290 137279215 2.23 [{'connected_gene': 'TOR4A', 'score': 550.77}, {'connected_gene': 'NELFB', 'score': 0.34}]
chr9 GH09I137271 137271362 137271658 0.51 [{'connected_gene': 'TOR4A', 'score': 0.44}, {'connected_gene': 'NELFB', 'score': 0.37}]
chr9 GH09I137267 137267692 137270028 1.36 [{'connected_gene': 'NELFB', 'score': 24.1}, {'connected_gene': 'EHMT1', 'score': 23.02}, {'connected_gene': 'ANAPC2', 'score': 19.23}, {'connected_gene': 'SNHG7', 'score': 16.62}, {'connected_gene': 'SEC16A', 'score': 13.48}, {'connected_gene': 'SDCCAG3', 'score': 11.83}, {'connected_gene': 'LOC651337', 'score': 10.79}, {'connected_gene': 'DPH7', 'score': 10.75}, {'connected_gene': 'STPG3', 'score': 6.33}, {'connected_gene': 'TOR4A', 'score': 0.44}]
chr9 GH09I137262 137262855 137263425 0.43 [{'connected_gene': 'NELFB', 'score': 23.86}, {'connected_gene': 'TOR4A', 'score': 0.39}]
chr9 GH09I137273 137273849 137275002 1.03 [{'connected_gene': 'NELFB', 'score': 23.79}, {'connected_gene': 'TOR4A', 'score': 0.77}]
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 GH09I137253 137253603 137256858 2.03 [{'connected_gene': 'NELFB', 'score': 575.38}, {'connected_gene': 'STPG3-AS1', 'score': 550.77}, {'connected_gene': 'MAN1B1', 'score': 5.06}, {'connected_gene': 'TOR4A', 'score': 0.34}]
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}]
chr9 GH09I137286 137286329 137286438 0.31 [{'connected_gene': 'GC09P137287', 'score': 550.77}, {'connected_gene': 'ENSG00000270259', 'score': 550.77}, {'connected_gene': 'NELFB', 'score': 8.83}, {'connected_gene': 'ENSG00000260996', 'score': 0.44}]