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
ENST00000396062 [[45584802, 45585455], [45587230, 45587328], [45590089, 45590157], [45590687, 45590823], [45598996, 45599104], [45599901, 45600003], [45603551, 45603732]] [[45585400, 45585455], [45587230, 45587328], [45590089, 45590157], [45590687, 45590823], [45598996, 45599104], [45599901, 45600003], [45603551, 45603659]]
ENST00000216330 [[45584802, 45585455], [45587230, 45587328], [45590089, 45590157], [45590687, 45590823], [45598996, 45599104], [45599901, 45600003], [45603551, 45604009], [45604461, 45604522]] [[45585400, 45585455], [45587230, 45587328], [45590089, 45590157], [45590687, 45590823], [45598996, 45599104], [45599901, 45600003], [45603551, 45603659]]
ENST00000557324 [[45590112, 45590157], [45590687, 45590823], [45598996, 45599104], [45599901, 45600003], [45602525, 45602642], [45603551, 45603686]] [[45602552, 45602642], [45603551, 45603659]]
ENST00000556231 [[45590790, 45590823], [45598996, 45599104], [45599901, 45600464]] None
NM_002013 [[45584801, 45585455], [45587230, 45587328], [45590089, 45590157], [45590687, 45590823], [45598996, 45599104], [45599901, 45600003], [45603551, 45603732]] [[45585400, 45585455], [45587230, 45587328], [45590089, 45590157], [45590687, 45590823], [45598996, 45599104], [45599901, 45600003], [45603551, 45603659]]
Promoter
Chrom Start End Description
chr14 45603657 45603694 CAGE_peak_1_at_FKBP3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I045133 45133400 45137801 2.07 [{'connected_gene': 'FANCM', 'score': 578.21}, {'connected_gene': 'FKBP3', 'score': 550.77}, {'connected_gene': 'GC14M045133', 'score': 550.77}, {'connected_gene': 'PRPF39', 'score': 20.91}, {'connected_gene': 'ENSG00000212615', 'score': 11.05}, {'connected_gene': 'LOC105370474', 'score': 11.04}, {'connected_gene': 'KLHL28', 'score': 10.46}, {'connected_gene': 'SNORD127', 'score': 10.41}, {'connected_gene': 'TOGARAM1', 'score': 10.4}, {'connected_gene': 'MIS18BP1', 'score': 10.25}, {'connected_gene': 'LINC02302', 'score': 9.4}, {'connected_gene': 'GC14P045108', 'score': 0.31}, {'connected_gene': 'GC14P045107', 'score': 0.31}, {'connected_gene': 'GC14M044793', 'score': 0.26}, {'connected_gene': 'GC14P044911', 'score': 0.07}]
chr14 GH14I045123 45123176 45123528 0.22 [{'connected_gene': 'PRPF39', 'score': 2.13}, {'connected_gene': 'SNORD127', 'score': 0.39}, {'connected_gene': 'GC14M045133', 'score': 0.39}, {'connected_gene': 'FKBP3', 'score': 0.39}, {'connected_gene': 'GC14P045108', 'score': 0.37}, {'connected_gene': 'GC14P045107', 'score': 0.37}, {'connected_gene': 'GC14M044793', 'score': 0.22}, {'connected_gene': 'GC14P044911', 'score': 0.08}]