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
ENST00000220876 [[80523048, 80523449], [80549036, 80549132], [80553612, 80553785], [80567105, 80567297], [80577049, 80578410]] [[80523430, 80523449], [80549036, 80549132], [80553612, 80553785], [80567105, 80567297], [80577049, 80577109]]
ENST00000518111 [[80523386, 80523449], [80549036, 80549132], [80553612, 80553785], [80567105, 80567297], [80575814, 80575896], [80577049, 80577242]] [[80523430, 80523449], [80549036, 80549132], [80553612, 80553785], [80567105, 80567297], [80575814, 80575896], [80577049, 80577051]]
ENST00000518491 [[80523969, 80524026], [80549036, 80549132], [80553612, 80553785], [80567105, 80567297], [80577049, 80577116]] [[80549050, 80549132], [80553612, 80553785], [80567105, 80567297], [80577049, 80577109]]
NM_007029 [[80523048, 80523449], [80549036, 80549132], [80553612, 80553785], [80567105, 80567297], [80577049, 80578410]] [[80523430, 80523449], [80549036, 80549132], [80553612, 80553785], [80567105, 80567297], [80577049, 80577109]]
NM_001199214 [[80523048, 80523449], [80549036, 80549132], [80553612, 80553785], [80567105, 80567297], [80575814, 80575896], [80577049, 80578410]] [[80523430, 80523449], [80549036, 80549132], [80553612, 80553785], [80567105, 80567297], [80575814, 80575896], [80577049, 80577051]]
Promoter
Chrom Start End Description
chr8 80523302 80523319 CAGE_peak_2_at_STMN2_5end
chr8 80523321 80523382 CAGE_peak_1_at_STMN2_5end
chr8 80523962 80523991 CAGE_peak_3_at_STMN2_5end
chr8 80523994 80524003 CAGE_peak_7_at_STMN2_5end
chr8 80567142 80567164 CAGE_peak_4_at_STMN2_5end
chr8 80567172 80567190 CAGE_peak_5_at_STMN2_5end
chr8 80567211 80567218 CAGE_peak_9_at_STMN2_5end
chr8 80567244 80567265 CAGE_peak_6_at_STMN2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I079611 79611046 79611215 0.99 [{'connected_gene': 'STMN2', 'score': 550.77}, {'connected_gene': 'LOC105375916', 'score': 0.31}]
chr8 GH08I079610 79610806 79610955 0.46 [{'connected_gene': 'STMN2', 'score': 550.77}, {'connected_gene': 'LOC105375916', 'score': 0.31}]
chr8 GH08I079363 79363399 79363791 0.22 [{'connected_gene': 'STMN2', 'score': 1.31}, {'connected_gene': 'ENSG00000253659', 'score': 0.2}, {'connected_gene': 'GC08M079400', 'score': 0.16}]
chr8 GH08I079665 79665800 79669137 0.52 [{'connected_gene': 'LOC105375916', 'score': 0.31}, {'connected_gene': 'STMN2', 'score': 0.22}, {'connected_gene': 'HEY1', 'score': 0.15}]
chr8 GH08I079729 79729975 79730230 0.22 [{'connected_gene': 'RNU7-85P', 'score': 10.0}, {'connected_gene': 'STMN2', 'score': 1.82}, {'connected_gene': 'HEY1', 'score': 0.28}, {'connected_gene': 'LOC105375916', 'score': 0.16}]

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