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
ENST00000555166 [[57857261, 57857423], [57863469, 57863593], [57866545, 57866601], [57876096, 57877048]] [[57863472, 57863593], [57866545, 57866601], [57876096, 57876234]]
ENST00000556492 [[57857270, 57857423], [57857674, 57858446], [57863469, 57863593], [57866545, 57866601], [57876096, 57882635]] [[57857675, 57858446], [57863469, 57863593], [57866545, 57866601], [57876096, 57876234]]
ENST00000554703 [[57857305, 57857423], [57863469, 57863593], [57876096, 57876649]] [[57863472, 57863593], [57876096, 57876125]]
ENST00000298406 [[57858018, 57858224], [57863469, 57863593], [57866545, 57866601], [57876096, 57879464]] [[57858018, 57858224], [57863469, 57863593], [57866545, 57866601], [57876096, 57876234]]
NM_001011713 [[57857270, 57857423], [57857674, 57858446], [57863469, 57863593], [57866545, 57866601], [57876096, 57879466]] [[57857675, 57858446], [57863469, 57863593], [57866545, 57866601], [57876096, 57876234]]
Promoter
Chrom Start End Description
chr14 57857290 57857334 CAGE_peak_1_at_NAA30_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I057264 57264546 57270601 2.06 [{'connected_gene': 'AP5M1', 'score': 556.98}, {'connected_gene': 'EXOC5', 'score': 550.77}, {'connected_gene': 'NAA30', 'score': 17.8}, {'connected_gene': 'ENSG00000258592', 'score': 0.1}]
chr14 GH14I057383 57383201 57383400 0.31 [{'connected_gene': 'AP5M1', 'score': 15.81}, {'connected_gene': 'EXOC5', 'score': 9.73}, {'connected_gene': 'NAA30', 'score': 0.44}, {'connected_gene': 'ENSG00000259008', 'score': 0.31}]
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 GH14I057486 57486768 57487139 0.59 [{'connected_gene': 'NAA30', 'score': 5.97}, {'connected_gene': 'CCDC198', 'score': 5.84}, {'connected_gene': 'GC14P057427', 'score': 0.22}]
chr14 GH14I057389 57389303 57393201 1.95 [{'connected_gene': 'NAA30', 'score': 568.19}, {'connected_gene': 'GC14P057427', 'score': 0.28}]
chr14 GH14I057361 57361520 57363221 0.43 [{'connected_gene': 'NAA30', 'score': 10.87}, {'connected_gene': 'ENSG00000259008', 'score': 0.44}]
chr14 GH14I057382 57382201 57382800 0.74 [{'connected_gene': 'EXOC5', 'score': 9.73}, {'connected_gene': 'AP5M1', 'score': 9.73}, {'connected_gene': 'NAA30', 'score': 0.44}, {'connected_gene': 'ENSG00000259008', 'score': 0.31}]
chr14 GH14I057365 57365183 57365352 0.2 [{'connected_gene': 'ENSG00000259008', 'score': 0.44}, {'connected_gene': 'NAA30', 'score': 0.31}]