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
ENST00000237281 [[146114637, 146121445], [146125507, 146127557], [146135738, 146135889]] [[146121241, 146121445], [146125507, 146127541]]
NM_032145 [[146119270, 146121445], [146125507, 146127557], [146135738, 146135921]] [[146121241, 146121445], [146125507, 146127541]]
NM_001348092 [[146119270, 146121445], [146125507, 146127557], [146135827, 146135921]] [[146121241, 146121445], [146125507, 146127541]]
Promoter
Chrom Start End Description
chr6 146135852 146135871 CAGE_peak_2_at_FBXO30_5end
chr6 146135880 146135952 CAGE_peak_1_at_FBXO30_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I145812 145812308 145816431 2.09 [{'connected_gene': 'FBXO30', 'score': 550.77}, {'connected_gene': 'SHPRH', 'score': 19.79}, {'connected_gene': 'LOC100507557', 'score': 18.29}, {'connected_gene': 'KATNBL1P6', 'score': 9.75}, {'connected_gene': 'ENSG00000280184', 'score': 0.34}]
chr6 GH06I146289 146289846 146291114 1.25 [{'connected_gene': 'FBXO30', 'score': 8.95}, {'connected_gene': 'ENSG00000270638', 'score': 4.86}, {'connected_gene': 'RAB32', 'score': 1.95}, {'connected_gene': 'RNA5SP222', 'score': 0.25}, {'connected_gene': 'GC06P146172', 'score': 0.13}, {'connected_gene': 'GRM1', 'score': 0.05}]
chr6 GH06I145882 145882405 145882554 0.2 [{'connected_gene': 'FBXO30', 'score': 11.58}, {'connected_gene': 'LOC100507557', 'score': 11.48}, {'connected_gene': 'GC06P145874', 'score': 0.44}, {'connected_gene': 'GC06M145895', 'score': 0.39}, {'connected_gene': 'SHPRH', 'score': 0.18}]
chr6 GH06I145743 145743462 145743785 0.27 [{'connected_gene': 'FBXO30', 'score': 3.0}, {'connected_gene': 'LOC100507557', 'score': 0.44}, {'connected_gene': 'ENSG00000270828', 'score': 0.44}, {'connected_gene': 'LOC105378039', 'score': 0.34}]
chr6 GH06I145842 145842090 145842643 0.2 [{'connected_gene': 'FBXO30', 'score': 11.66}, {'connected_gene': 'LOC100507557', 'score': 11.49}, {'connected_gene': 'GC06P145856', 'score': 0.39}, {'connected_gene': 'GC06P145831', 'score': 0.39}]
chr6 GH06I145846 145845225 145845374 0.56 [{'connected_gene': 'FBXO30', 'score': 12.74}, {'connected_gene': 'LOC100507557', 'score': 12.58}, {'connected_gene': 'GC06P145856', 'score': 0.39}, {'connected_gene': 'GC06P145831', 'score': 0.39}]
chr6 GH06I145845 145845045 145845194 0.57 [{'connected_gene': 'FBXO30', 'score': 12.74}, {'connected_gene': 'LOC100507557', 'score': 12.58}, {'connected_gene': 'GC06P145856', 'score': 0.39}, {'connected_gene': 'GC06P145831', 'score': 0.39}]
chr6 GH06I145819 145819685 145819862 0.31 [{'connected_gene': 'FBXO30', 'score': 0.77}, {'connected_gene': 'GC06P145825', 'score': 0.44}, {'connected_gene': 'LOC100507557', 'score': 0.18}]
chr6 GH06I145808 145808352 145808411 0.86 [{'connected_gene': 'FBXO30', 'score': 550.44}, {'connected_gene': 'ENSG00000280184', 'score': 0.37}, {'connected_gene': 'LOC100507557', 'score': 0.19}]
chr6 GH06I145816 145816505 145816543 0.52 [{'connected_gene': 'FBXO30', 'score': 550.77}, {'connected_gene': 'GC06P145825', 'score': 0.44}, {'connected_gene': 'LOC100507557', 'score': 0.18}]
chr6 GH06I145818 145818905 145819114 0.2 [{'connected_gene': 'EPM2A', 'score': 6.21}, {'connected_gene': 'FBXO30', 'score': 0.77}, {'connected_gene': 'GC06P145825', 'score': 0.44}, {'connected_gene': 'LOC100507557', 'score': 0.18}]
chr6 GH06I145890 145890862 145892292 0.52 [{'connected_gene': 'LOC100507557', 'score': 26.71}, {'connected_gene': 'FBXO30', 'score': 11.08}, {'connected_gene': 'GC06M145895', 'score': 0.44}, {'connected_gene': 'GC06P145874', 'score': 0.37}, {'connected_gene': 'SHPRH', 'score': 0.19}]