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
ENST00000603540 [[70918873, 70918980], [70924065, 70926616]] [[70924216, 70926385]]
ENST00000267499 [[70924216, 70926622]] [[70924216, 70926385]]
NM_003813 [[70918873, 70918980], [70924065, 70926622]] [[70924216, 70926385]]
Promoter
Chrom Start End Description
chr14 70918887 70918913 CAGE_peak_1_at_ADAM21_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I070452 70452125 70452184 0.5 [{'connected_gene': 'ADAM21', 'score': 550.77}, {'connected_gene': 'SYNJ2BP', 'score': 11.84}, {'connected_gene': 'GC14P070437', 'score': 0.39}, {'connected_gene': 'LOC105370555', 'score': 0.15}]
chr14 GH14I069715 69715602 69720599 1.53 [{'connected_gene': 'SRSF5', 'score': 69.36}, {'connected_gene': 'EXD2', 'score': 29.96}, {'connected_gene': 'ADAM21', 'score': 26.0}, {'connected_gene': 'ERH', 'score': 14.3}, {'connected_gene': 'SUSD6', 'score': 12.97}, {'connected_gene': 'ADAM20', 'score': 10.26}, {'connected_gene': 'ADAM20P1', 'score': 10.24}, {'connected_gene': 'ENSG00000258957', 'score': 9.74}, {'connected_gene': 'PIR54293', 'score': 0.44}]
chr14 GH14I070401 70401702 70402064 0.2 [{'connected_gene': 'COX16', 'score': 10.63}, {'connected_gene': 'ADAM21', 'score': 4.41}, {'connected_gene': 'GC14P070399', 'score': 0.77}, {'connected_gene': 'SYNJ2BP-COX16', 'score': 0.37}, {'connected_gene': 'SYNJ2BP', 'score': 0.37}]
chr14 GH14I070471 70471284 70471533 0.2 [{'connected_gene': 'COX16', 'score': 18.07}, {'connected_gene': 'SYNJ2BP', 'score': 11.61}, {'connected_gene': 'RNU2-51P', 'score': 10.12}, {'connected_gene': 'SLC8A3', 'score': 4.92}, {'connected_gene': 'MED6', 'score': 4.82}, {'connected_gene': 'ADAM20P1', 'score': 0.39}, {'connected_gene': 'ADAM21', 'score': 0.37}, {'connected_gene': 'LOC105370555', 'score': 0.18}]
chr14 GH14I070317 70317399 70319053 0.93 [{'connected_gene': 'COX16', 'score': 27.97}, {'connected_gene': 'RNU2-51P', 'score': 11.22}, {'connected_gene': 'SLC8A3', 'score': 5.5}, {'connected_gene': 'ADAM20P1', 'score': 5.38}, {'connected_gene': 'ADAM21', 'score': 5.05}, {'connected_gene': 'PIR53064', 'score': 0.29}, {'connected_gene': 'GC14M070313', 'score': 0.22}, {'connected_gene': 'LOC105370552', 'score': 0.21}]