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
ENST00000439351 [[186285191, 186285385], [186287951, 186288754], [186289883, 186290040], [186293628, 186293726], [186295456, 186295589], [186299159, 186299302], [186299783, 186299866], [186300504, 186300562], [186301653, 186301765], [186302218, 186302378], [186303132, 186303589]] [[186288686, 186288754], [186289883, 186290040], [186293628, 186293726], [186295456, 186295589], [186299159, 186299302], [186299783, 186299866], [186300504, 186300562], [186301653, 186301765], [186302218, 186302378], [186303132, 186303197]]
ENST00000265028 [[186288466, 186288754], [186289883, 186290040], [186293628, 186293726], [186295456, 186295589], [186299159, 186299302], [186299783, 186299866], [186300504, 186300562], [186301653, 186301765], [186302218, 186302378], [186303132, 186303588]] [[186288686, 186288754], [186289883, 186290040], [186293628, 186293726], [186295456, 186295589], [186299159, 186299302], [186299783, 186299866], [186300504, 186300562], [186301653, 186301765], [186302218, 186302378], [186303132, 186303197]]
ENST00000464877 [[186289892, 186290040], [186293628, 186293726], [186295456, 186295849]] None
ENST00000495390 [[186296086, 186299302], [186299783, 186299866], [186300504, 186300562], [186301653, 186301765], [186302218, 186302378], [186303132, 186303582]] None
ENST00000418776 [[186299783, 186299866], [186300504, 186300562], [186301653, 186301765], [186302218, 186302378], [186303132, 186303170], [186314842, 186314892]] [[186299783, 186299866], [186300504, 186300562], [186301653, 186301765], [186302218, 186302378], [186303132, 186303170], [186314842, 186314892]]
ENST00000538831 [[186314752, 186315061]] [[186314764, 186314992]]
NM_016306 [[186288464, 186288754], [186289883, 186290040], [186293628, 186293726], [186295456, 186295589], [186299159, 186299302], [186299783, 186299866], [186300504, 186300562], [186301653, 186301765], [186302218, 186302378], [186303132, 186303589]] [[186288686, 186288754], [186289883, 186290040], [186293628, 186293726], [186295456, 186295589], [186299159, 186299302], [186299783, 186299866], [186300504, 186300562], [186301653, 186301765], [186302218, 186302378], [186303132, 186303197]]
Promoter
Chrom Start End Description
chr3 186285211 186285229 CAGE_peak_3_at_DNAJB11_5end
chr3 186288454 186288535 CAGE_peak_1_at_DNAJB11_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I186570 186569530 186571861 2.06 [{'connected_gene': 'TBCCD1', 'score': 591.33}, {'connected_gene': 'DNAJB11', 'score': 550.77}, {'connected_gene': 'TRA2B', 'score': 74.57}, {'connected_gene': 'ENSG00000200418', 'score': 32.15}, {'connected_gene': 'SNORA4', 'score': 27.24}, {'connected_gene': 'SNORA81', 'score': 20.56}, {'connected_gene': 'RFC4', 'score': 11.98}, {'connected_gene': 'RPS20P14', 'score': 10.31}, {'connected_gene': 'SNORA63', 'score': 9.73}, {'connected_gene': 'CRYGS', 'score': 5.07}, {'connected_gene': 'ENSG00000283149', 'score': 0.39}]
chr3 GH03I186566 186566261 186568529 2.03 [{'connected_gene': 'TBCCD1', 'score': 575.74}, {'connected_gene': 'DNAJB11', 'score': 550.77}, {'connected_gene': 'TRA2B', 'score': 30.63}, {'connected_gene': 'RFC4', 'score': 11.5}, {'connected_gene': 'ENSG00000200418', 'score': 10.32}, {'connected_gene': 'SNORA4', 'score': 10.0}, {'connected_gene': 'PIR33054', 'score': 0.39}]
chr3 GH03I186569 186569001 186569200 0.31 [{'connected_gene': 'DNAJB11', 'score': 550.77}, {'connected_gene': 'TBCCD1', 'score': 550.77}]
chr3 GH03I186593 186593409 186595286 0.76 [{'connected_gene': 'FETUB', 'score': 10.4}, {'connected_gene': 'KNG1', 'score': 10.35}, {'connected_gene': 'RFC4', 'score': 9.93}, {'connected_gene': 'ENSG00000231724', 'score': 9.8}, {'connected_gene': 'HRG', 'score': 9.75}, {'connected_gene': 'DNAJB11', 'score': 4.76}, {'connected_gene': 'LOC100287402', 'score': 0.77}, {'connected_gene': 'ENSG00000283149', 'score': 0.39}, {'connected_gene': 'LOC105374258', 'score': 0.1}]
chr3 GH03I186187 186187014 186188553 0.43 [{'connected_gene': 'ETV5', 'score': 11.3}, {'connected_gene': 'ETV5-AS1', 'score': 10.34}, {'connected_gene': 'DNAJB11', 'score': 4.93}, {'connected_gene': 'GC03P186167', 'score': 0.34}, {'connected_gene': 'DGKG', 'score': 0.09}]
chr3 GH03I186588 186588296 186591531 1.07 [{'connected_gene': 'AHSG', 'score': 12.3}, {'connected_gene': 'SNORD2', 'score': 10.75}, {'connected_gene': 'EIF4A2', 'score': 10.75}, {'connected_gene': 'ENSG00000200418', 'score': 10.75}, {'connected_gene': 'SNORA63', 'score': 10.75}, {'connected_gene': 'SNORA81', 'score': 10.75}, {'connected_gene': 'RFC4', 'score': 10.4}, {'connected_gene': 'ENSG00000231724', 'score': 10.4}, {'connected_gene': 'FETUB', 'score': 10.38}, {'connected_gene': 'KNG1', 'score': 10.35}, {'connected_gene': 'HRG', 'score': 10.04}, {'connected_gene': 'DNAJB11', 'score': 5.51}, {'connected_gene': 'CRYGS', 'score': 5.07}, {'connected_gene': 'LOC100287402', 'score': 0.44}, {'connected_gene': 'ENSG00000283149', 'score': 0.44}, {'connected_gene': 'LOC105374258', 'score': 0.09}]
chr3 GH03I186024 186024109 186024925 0.4 [{'connected_gene': 'ETV5-AS1', 'score': 10.68}, {'connected_gene': 'ETV5', 'score': 10.62}, {'connected_gene': 'KNG1', 'score': 9.95}, {'connected_gene': 'AHSG', 'score': 9.49}, {'connected_gene': 'HRG', 'score': 8.95}, {'connected_gene': 'DNAJB11', 'score': 4.8}, {'connected_gene': 'GC03P186008', 'score': 0.37}, {'connected_gene': 'ENSG00000277118', 'score': 0.23}]