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
ENST00000259396 [[117085335, 117085527], [117085942, 117086085], [117086297, 117086368], [117087069, 117087177], [117087328, 117087432], [117088571, 117088755]] [[117085413, 117085527], [117085942, 117086085], [117086297, 117086368], [117087069, 117087177], [117087328, 117087432], [117088571, 117088637]]
ENST00000538816 [[117085376, 117086085], [117086297, 117086584]] [[117085413, 117085998]]
ENST00000477456 [[117086045, 117086085], [117086297, 117086368], [117087069, 117087177], [117087328, 117087531]] None
NM_000607 [[117085302, 117085527], [117085942, 117086085], [117086297, 117086368], [117087069, 117087177], [117087328, 117087432], [117088571, 117088759]] [[117085413, 117085527], [117085942, 117086085], [117086297, 117086368], [117087069, 117087177], [117087328, 117087432], [117088571, 117088637]]
Promoter
Chrom Start End Description
chr9 117086005 117086035 CAGE_peak_1_at_ORM1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I114169 114169015 114178504 1.59 [{'connected_gene': 'COL27A1', 'score': 35.05}, {'connected_gene': 'PRPF4', 'score': 16.02}, {'connected_gene': 'MIR455', 'score': 12.34}, {'connected_gene': 'ORM1', 'score': 1.67}, {'connected_gene': 'GC09P114665', 'score': 0.77}, {'connected_gene': 'GC09P114318', 'score': 0.28}, {'connected_gene': 'GC09P114317', 'score': 0.28}]
chr9 GH09I114360 114360857 114391414 2.75 [{'connected_gene': 'AKNA', 'score': 576.12}, {'connected_gene': 'WHRN', 'score': 27.79}, {'connected_gene': 'TMEM268', 'score': 11.11}, {'connected_gene': 'ENSG00000201749', 'score': 11.11}, {'connected_gene': 'ORM1', 'score': 5.94}, {'connected_gene': 'ORM2', 'score': 1.46}, {'connected_gene': 'ATP6V1G1', 'score': 1.42}, {'connected_gene': 'ENSG00000235119', 'score': 0.34}]
chr9 GH09I114331 114331710 114335743 0.49 [{'connected_gene': 'ORM2', 'score': 6.25}, {'connected_gene': 'ORM1', 'score': 5.85}, {'connected_gene': 'WHRN', 'score': 5.21}, {'connected_gene': 'ENSG00000235119', 'score': 0.21}, {'connected_gene': 'AKNA', 'score': 0.21}]
chr9 GH09I114329 114329154 114330139 1.2 [{'connected_gene': 'ORM2', 'score': 557.4}, {'connected_gene': 'ORM1', 'score': 5.36}]
chr9 GH09I113992 113992298 113993400 1.04 [{'connected_gene': 'ORM2', 'score': 16.3}, {'connected_gene': 'AMBP', 'score': 15.09}, {'connected_gene': 'ORM1', 'score': 6.42}, {'connected_gene': 'COL27A1', 'score': 4.61}, {'connected_gene': 'GC09P114664', 'score': 0.21}, {'connected_gene': 'ZNF618', 'score': 0.13}]
chr9 GH09I114321 114321881 114322030 0.38 [{'connected_gene': 'ORM1', 'score': 550.77}, {'connected_gene': 'ORM2', 'score': 5.93}, {'connected_gene': 'WHRN', 'score': 4.93}, {'connected_gene': 'LOC105376224', 'score': 0.77}]
chr9 GH09I114323 114323013 114323072 0.5 [{'connected_gene': 'ORM1', 'score': 550.77}, {'connected_gene': 'ORM2', 'score': 0.44}]
chr9 GH09I114314 114314999 114315454 0.94 [{'connected_gene': 'ORM1', 'score': 21.01}, {'connected_gene': 'AMBP', 'score': 19.81}, {'connected_gene': 'ORM2', 'score': 8.39}, {'connected_gene': 'LOC105376224', 'score': 0.77}, {'connected_gene': 'MIR455', 'score': 0.14}]
chr9 GH09I114324 114324933 114326995 0.43 [{'connected_gene': 'ORM1', 'score': 9.77}, {'connected_gene': 'WHRN', 'score': 5.72}, {'connected_gene': 'ORM2', 'score': 5.44}]
chr9 GH09I114317 114317576 114318772 1.24 [{'connected_gene': 'LOC105376224', 'score': 550.77}, {'connected_gene': 'ORM2', 'score': 10.5}, {'connected_gene': 'ATP6V1G1', 'score': 2.24}, {'connected_gene': 'ORM1', 'score': 2.22}, {'connected_gene': 'TNFSF15', 'score': 2.12}, {'connected_gene': 'MIR455', 'score': 0.14}]