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
ENST00000545307 [[58666797, 58667012], [58669572, 58669645], [58674653, 58674736], [58675716, 58675825], [58678009, 58678128], [58680358, 58680416], [58681922, 58682002], [58686411, 58686447], [58690339, 58690419], [58690500, 58690574], [58697116, 58697198], [58698783, 58698985], [58701087, 58701478]] [[58666935, 58667012], [58669572, 58669645], [58674653, 58674736], [58675716, 58675825], [58678009, 58678128], [58680358, 58680416], [58681922, 58681961]]
ENST00000254286 [[58666855, 58667012], [58669572, 58669645], [58674653, 58674736], [58675716, 58675825], [58678009, 58678117], [58680348, 58680416], [58681922, 58682002], [58686411, 58686447], [58690339, 58690419], [58690500, 58690574], [58697116, 58697198], [58698783, 58698985], [58701087, 58701750]] [[58666935, 58667012], [58669572, 58669645], [58674653, 58674736], [58675716, 58675825], [58678009, 58678117], [58680348, 58680416], [58681922, 58682002], [58686411, 58686447], [58690339, 58690419], [58690500, 58690574], [58697116, 58697198], [58698783, 58698985], [58701087, 58701269]]
ENST00000555229 [[58666859, 58667012], [58669572, 58669645], [58674653, 58674736], [58675716, 58675825], [58678009, 58678110], [58680358, 58680416], [58681922, 58682002], [58686411, 58686447], [58690339, 58690419], [58690500, 58690574], [58697116, 58697198], [58698783, 58698985], [58701087, 58701473]] [[58666935, 58667012], [58669572, 58669645], [58674653, 58674736], [58675716, 58675825], [58678009, 58678110], [58680358, 58680416], [58681922, 58681961]]
ENST00000555337 [[58666866, 58667012], [58669572, 58669645], [58674653, 58674736], [58675716, 58675825], [58681922, 58682002], [58686411, 58686447], [58697116, 58697198], [58698783, 58698879]] [[58666935, 58667012], [58669572, 58669645], [58674653, 58674736], [58675716, 58675825], [58681922, 58681961]]
ENST00000556748 [[58666871, 58667012], [58674653, 58674736], [58675716, 58675825], [58681922, 58682002], [58686411, 58686447], [58690339, 58690419], [58690500, 58690574]] [[58666935, 58667012], [58674653, 58674708]]
ENST00000556312 [[58666887, 58667012], [58669572, 58669645], [58674653, 58674736], [58675716, 58675975]] None
ENST00000556243 [[58666928, 58667012], [58669572, 58669645], [58673766, 58673901], [58674653, 58674736], [58675716, 58675825]] [[58666935, 58667012], [58669572, 58669645], [58673766, 58673889]]
ENST00000554402 [[58666936, 58667012], [58669572, 58669645], [58674653, 58674736], [58675716, 58675825], [58678009, 58678117], [58680348, 58680416], [58681922, 58682002], [58686411, 58686447], [58690339, 58690419], [58690500, 58690574], [58697116, 58697198], [58697797, 58697871], [58698783, 58698985], [58701087, 58701486]] [[58666936, 58667012], [58669572, 58669645], [58674653, 58674736], [58675716, 58675825], [58678009, 58678117], [58680348, 58680416], [58681922, 58682002], [58686411, 58686447], [58690339, 58690419], [58690500, 58690574], [58697116, 58697198], [58697797, 58697836]]
ENST00000556694 [[58677801, 58678117], [58680348, 58680416], [58681922, 58682002], [58686411, 58686447], [58690339, 58690419], [58690500, 58690545]] None
ENST00000557711 [[58679751, 58680416], [58681922, 58682002], [58686411, 58686447], [58690339, 58690419], [58690500, 58690574], [58697116, 58697198], [58698783, 58698985], [58701087, 58701452]] None
ENST00000557583 [[58686235, 58686447], [58690339, 58690574], [58697118, 58697194]] None
ENST00000554790 [[58686387, 58686447], [58690339, 58690419], [58690500, 58690574], [58697116, 58697198], [58698783, 58698986]] None
ENST00000556449 [[58690210, 58690574], [58697116, 58697198], [58698783, 58698826]] None
ENST00000555965 [[58690316, 58690419], [58690500, 58690574], [58697116, 58697198], [58698783, 58698986]] None
ENST00000553907 [[58690340, 58690419], [58697116, 58697198], [58698783, 58698985], [58701087, 58701504]] [[58690340, 58690419], [58697116, 58697143]]
ENST00000554642 [[58690355, 58690419], [58698783, 58698985], [58701087, 58701508]] [[58690355, 58690419], [58698783, 58698985], [58701087, 58701269]]
NM_018477 [[58666832, 58667012], [58669572, 58669645], [58674653, 58674736], [58675716, 58675825], [58678009, 58678117], [58680348, 58680416], [58681922, 58682002], [58686411, 58686447], [58690339, 58690419], [58690500, 58690574], [58697116, 58697198], [58698783, 58698985], [58701087, 58702354]] [[58666935, 58667012], [58669572, 58669645], [58674653, 58674736], [58675716, 58675825], [58678009, 58678117], [58680348, 58680416], [58681922, 58682002], [58686411, 58686447], [58690339, 58690419], [58690500, 58690574], [58697116, 58697198], [58698783, 58698985], [58701087, 58701269]]
Promoter
Chrom Start End Description
chr14 58666824 58666902 CAGE_peak_1_at_ACTR10_5end
chr14 58666903 58666926 CAGE_peak_2_at_ACTR10_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I058280 58280564 58282943 1.56 [{'connected_gene': 'ACTR10', 'score': 22.62}, {'connected_gene': 'TOMM20L', 'score': 10.84}, {'connected_gene': 'ENSG00000258682', 'score': 8.7}, {'connected_gene': 'ARID4A', 'score': 5.8}, {'connected_gene': 'HMGB1P14', 'score': 0.77}, {'connected_gene': 'PIR55001', 'score': 0.39}, {'connected_gene': 'C14orf37', 'score': 0.37}, {'connected_gene': 'PSMA3-AS1', 'score': 0.37}]
chr14 GH14I058199 58199200 58201614 1.93 [{'connected_gene': 'ACTR10', 'score': 550.77}, {'connected_gene': 'PSMA3-AS1', 'score': 6.16}, {'connected_gene': 'C14orf37', 'score': 5.93}, {'connected_gene': 'TRK-CTT1-1', 'score': 0.28}, {'connected_gene': 'GC14P058110', 'score': 0.17}]
chr14 GH14I058198 58198203 58198352 0.31 [{'connected_gene': 'ACTR10', 'score': 550.77}, {'connected_gene': 'GC14P058189', 'score': 0.44}, {'connected_gene': 'GC14P058110', 'score': 0.17}, {'connected_gene': 'C14orf37', 'score': 0.15}]
chr14 GH14I058138 58138091 58138684 0.72 [{'connected_gene': 'ACTR10', 'score': 13.97}, {'connected_gene': 'ENSG00000259969', 'score': 4.82}, {'connected_gene': 'UBA52P3', 'score': 0.77}, {'connected_gene': 'PIR47835', 'score': 0.37}, {'connected_gene': 'GC14P058110', 'score': 0.31}, {'connected_gene': 'C14orf37', 'score': 0.1}]
chr14 GH14I058296 58296200 58300650 2.53 [{'connected_gene': 'PSMA3-AS1', 'score': 570.55}, {'connected_gene': 'ARID4A', 'score': 557.25}, {'connected_gene': 'C14orf37', 'score': 550.77}, {'connected_gene': 'KIAA0586', 'score': 25.08}, {'connected_gene': 'ENSG00000258682', 'score': 24.68}, {'connected_gene': 'TIMM9', 'score': 13.82}, {'connected_gene': 'TOMM20L', 'score': 10.77}, {'connected_gene': 'ACTR10', 'score': 6.46}, {'connected_gene': 'GC14P058345', 'score': 0.25}]
chr14 GH14I057977 57977319 57977579 0.22 [{'connected_gene': 'SLC35F4', 'score': 8.25}, {'connected_gene': 'ACTR10', 'score': 1.37}, {'connected_gene': 'C14orf37', 'score': 1.35}, {'connected_gene': 'GC14M057931', 'score': 0.39}]
chr14 GH14I057760 57760270 57760649 0.22 [{'connected_gene': 'SLC35F4', 'score': 13.62}, {'connected_gene': 'NAA30', 'score': 2.76}, {'connected_gene': 'ACTR10', 'score': 1.76}, {'connected_gene': 'EXOC5', 'score': 1.61}, {'connected_gene': 'C14orf37', 'score': 1.51}, {'connected_gene': 'RN7SKP99', 'score': 0.18}, {'connected_gene': 'GC14M057656', 'score': 0.18}]
chr14 GH14I058238 58238020 58240999 1.6 [{'connected_gene': 'TRK-CTT1-1', 'score': 550.77}, {'connected_gene': 'ARID4A', 'score': 12.77}, {'connected_gene': 'DACT1', 'score': 12.75}, {'connected_gene': 'KIAA0586', 'score': 10.26}, {'connected_gene': 'ENSG00000258682', 'score': 7.5}, {'connected_gene': 'PSMA3-AS1', 'score': 7.34}, {'connected_gene': 'C14orf37', 'score': 5.44}, {'connected_gene': 'ACTR10', 'score': 0.28}, {'connected_gene': 'GC14P058110', 'score': 0.13}]