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
ENST00000256246 [[30689059, 30690839], [30694318, 30695577], [30697421, 30697480], [30699519, 30706608]] [[30690801, 30690839], [30694318, 30695577], [30697421, 30697480], [30699519, 30706533]]
ENST00000523186 [[30706242, 30706832], [30716183, 30716346], [30717426, 30717573], [30724780, 30725018], [30732452, 30732618], [30744682, 30744827], [30746151, 30746222]] None
ENST00000518257 [[30732508, 30732618], [30744381, 30744523], [30744682, 30744827], [30745191, 30745289], [30748040, 30748122]] None
NM_031271 [[30689059, 30690839], [30694318, 30695577], [30697421, 30697480], [30699519, 30706533]] [[30690801, 30690839], [30694318, 30695577], [30697421, 30697480], [30699519, 30706533]]
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I030848 30848999 30849058 0.5 [{'connected_gene': 'TEX15', 'score': 550.21}, {'connected_gene': 'PPP2CB', 'score': 11.14}, {'connected_gene': 'LOC105379357', 'score': 0.28}]
chr8 GH08I030911 30911578 30913354 1.15 [{'connected_gene': 'TEX15', 'score': 550.77}, {'connected_gene': 'PPP2CB', 'score': 33.06}, {'connected_gene': 'LOC105379357', 'score': 0.34}]
chr8 GH08I031049 31049509 31049763 0.42 [{'connected_gene': 'TEX15', 'score': 1.86}, {'connected_gene': 'PURG', 'score': 1.57}, {'connected_gene': 'WRN', 'score': 0.37}, {'connected_gene': 'SUMO2P16', 'score': 0.18}]
chr8 GH08I030875 30875813 30875826 0.23 [{'connected_gene': 'LOC105379357', 'score': 0.39}, {'connected_gene': 'TEX15', 'score': 0.28}, {'connected_gene': 'PPP2CB', 'score': 0.21}]
chr8 GH08I030919 30919045 30919194 0.7 [{'connected_gene': 'ENSG00000253204', 'score': 550.77}, {'connected_gene': 'TEX15', 'score': 0.44}]

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