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
ENST00000270586 [[4699438, 4699591], [4700022, 4700090], [4700732, 4700864], [4700976, 4701106], [4701303, 4701448], [4701574, 4701790]] [[4699489, 4699591], [4700022, 4700090], [4700732, 4700864], [4700976, 4701106], [4701303, 4701448], [4701574, 4701717]]
ENST00000575079 [[4699455, 4699591], [4700022, 4700469]] None
ENST00000571309 [[4699498, 4699591], [4700022, 4700090], [4700732, 4700864], [4701011, 4701106], [4701303, 4701448], [4701574, 4701624]] [[4699498, 4699591], [4700022, 4700090], [4700732, 4700864], [4701011, 4701027]]
ENST00000575643 [[4700978, 4701448], [4701574, 4701770]] None
NM_002798 [[4699438, 4699591], [4700022, 4700090], [4700732, 4700864], [4700976, 4701106], [4701303, 4701448], [4701574, 4701798]] [[4699489, 4699591], [4700022, 4700090], [4700732, 4700864], [4700976, 4701106], [4701303, 4701448], [4701574, 4701717]]
NM_001270481 [[4699438, 4699591], [4700022, 4700090], [4700732, 4700864], [4700976, 4701106], [4701303, 4701448], [4701554, 4701798]] [[4699489, 4699591], [4700022, 4700090], [4700732, 4700864], [4700976, 4701106], [4701303, 4701448], [4701554, 4701619]]
Promoter
Chrom Start End Description
chr17 4699451 4699490 CAGE_peak_1_at_PSMB6_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I004795 4795409 4797075 2.04 [{'connected_gene': 'PSMB6', 'score': 550.77}, {'connected_gene': 'ZNF594', 'score': 18.14}, {'connected_gene': 'PLD2', 'score': 16.78}, {'connected_gene': 'LOC100130950', 'score': 16.45}, {'connected_gene': 'ENSG00000262165', 'score': 15.73}, {'connected_gene': 'LOC101927979', 'score': 14.95}, {'connected_gene': 'ZZEF1', 'score': 10.63}, {'connected_gene': 'PELP1', 'score': 10.01}, {'connected_gene': 'C17orf107', 'score': 4.73}, {'connected_gene': 'GC17M004737', 'score': 0.28}]
chr17 GH17I004786 4786093 4791385 2.07 [{'connected_gene': 'VMO1', 'score': 564.08}, {'connected_gene': 'ENSG00000280254', 'score': 550.77}, {'connected_gene': 'GLTPD2', 'score': 550.77}, {'connected_gene': 'ZNF594', 'score': 18.14}, {'connected_gene': 'LOC100130950', 'score': 16.45}, {'connected_gene': 'PELP1', 'score': 10.03}, {'connected_gene': 'RNF167', 'score': 5.81}, {'connected_gene': 'PSMB6', 'score': 0.44}, {'connected_gene': 'GC17M004737', 'score': 0.26}]
chr17 GH17I004842 4842801 4846199 1.09 [{'connected_gene': 'CHRNE', 'score': 36.89}, {'connected_gene': 'ARRB2', 'score': 19.83}, {'connected_gene': 'ZMYND15', 'score': 16.86}, {'connected_gene': 'CXCL16', 'score': 13.78}, {'connected_gene': 'C17orf107', 'score': 13.68}, {'connected_gene': 'PLD2', 'score': 12.83}, {'connected_gene': 'ENO3', 'score': 12.74}, {'connected_gene': 'PSMB6', 'score': 11.92}, {'connected_gene': 'RPS12P29', 'score': 11.7}, {'connected_gene': 'VMO1', 'score': 11.69}, {'connected_gene': 'GLTPD2', 'score': 11.69}, {'connected_gene': 'PELP1', 'score': 11.69}, {'connected_gene': 'LOC101559451', 'score': 11.69}, {'connected_gene': 'SCIMP', 'score': 2.9}, {'connected_gene': 'MINK1', 'score': 2.67}, {'connected_gene': 'ATP6V0CP1', 'score': 0.39}]
chr17 GH17I004801 4801202 4801581 0.24 [{'connected_gene': 'ENSG00000262165', 'score': 17.19}, {'connected_gene': 'MINK1', 'score': 11.62}, {'connected_gene': 'ZNF232', 'score': 3.69}, {'connected_gene': 'KIF1C', 'score': 1.35}, {'connected_gene': 'PSMB6', 'score': 0.44}, {'connected_gene': 'GC17M004737', 'score': 0.29}]