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
ENST00000250003 [[17741114, 17741959], [17742448, 17742527], [17742801, 17743678]] [[17741329, 17741959], [17742448, 17742527], [17742801, 17743055]]
NM_002478 [[17741109, 17741959], [17742448, 17742527], [17742801, 17743678]] [[17741329, 17741959], [17742448, 17742527], [17742801, 17743055]]
Promoter
Chrom Start End Description
chr11 17741084 17741094 CAGE_peak_3_at_MYOD1_5end
chr11 17741111 17741124 CAGE_peak_1_at_MYOD1_5end
chr11 17741206 17741215 CAGE_peak_6_at_MYOD1_5end
chr11 17741228 17741243 CAGE_peak_4_at_MYOD1_5end
chr11 17741254 17741282 CAGE_peak_2_at_MYOD1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I017812 17812654 17812803 0.49 [{'connected_gene': 'MYOD1', 'score': 9.8}, {'connected_gene': 'GC11P017794', 'score': 0.37}, {'connected_gene': 'GC11M017875', 'score': 0.2}, {'connected_gene': 'KCNC1', 'score': 0.18}, {'connected_gene': 'SERGEF', 'score': 0.08}]
chr11 GH11I017931 17931714 17931863 0.31 [{'connected_gene': 'MYOD1', 'score': 8.78}, {'connected_gene': 'GC11P017950', 'score': 0.37}, {'connected_gene': 'GC11P017887', 'score': 0.26}, {'connected_gene': 'SERGEF', 'score': 0.18}]
chr11 GH11I017718 17718224 17722303 1.45 [{'connected_gene': 'MYOD1', 'score': 550.77}, {'connected_gene': 'LOC102723330', 'score': 29.72}, {'connected_gene': 'ENSG00000254586', 'score': 10.99}, {'connected_gene': 'KCNC1', 'score': 0.39}]
chr11 GH11I017731 17731174 17731323 0.72 [{'connected_gene': 'KCNC1', 'score': 0.77}, {'connected_gene': 'MYOD1', 'score': 0.39}]
chr11 GH11I017978 17978774 17978923 0.71 [{'connected_gene': 'SERGEF', 'score': 11.01}, {'connected_gene': 'MYOD1', 'score': 10.67}, {'connected_gene': 'KCNC1', 'score': 10.63}, {'connected_gene': 'GC11P017952', 'score': 0.31}]
chr11 GH11I017985 17985430 17987275 0.95 [{'connected_gene': 'SERGEF', 'score': 22.28}, {'connected_gene': 'MYOD1', 'score': 9.9}, {'connected_gene': 'SAAL1', 'score': 9.74}, {'connected_gene': 'HIGD1AP5', 'score': 9.74}, {'connected_gene': 'GC11P017952', 'score': 0.29}]
chr11 GH11I017972 17972803 17973366 0.52 [{'connected_gene': 'SERGEF', 'score': 15.03}, {'connected_gene': 'MYOD1', 'score': 9.69}, {'connected_gene': 'GC11P017952', 'score': 0.34}]
chr11 GH11I017696 17696247 17701483 1.12 [{'connected_gene': 'LOC102723330', 'score': 585.73}, {'connected_gene': 'ENSG00000254586', 'score': 0.77}, {'connected_gene': 'MYOD1', 'score': 0.34}]
chr11 GH11I017713 17713621 17715393 0.51 [{'connected_gene': 'LOC102723330', 'score': 14.87}, {'connected_gene': 'MYOD1', 'score': 0.44}]
chr11 GH11I017707 17707543 17708189 0.51 [{'connected_gene': 'LOC102723330', 'score': 12.21}, {'connected_gene': 'KCNC1', 'score': 10.55}, {'connected_gene': 'MYOD1', 'score': 0.39}]
chr11 GH11I017648 17648033 17654655 0.79 [{'connected_gene': 'LOC102723330', 'score': 19.58}, {'connected_gene': 'ENSG00000254586', 'score': 18.5}, {'connected_gene': 'SPTY2D1', 'score': 15.82}, {'connected_gene': 'MYOD1', 'score': 14.36}, {'connected_gene': 'SNORD14A', 'score': 13.09}, {'connected_gene': 'SAAL1', 'score': 12.85}, {'connected_gene': 'ENSG00000256361', 'score': 12.67}, {'connected_gene': 'ENSG00000256588', 'score': 12.67}, {'connected_gene': 'TSG101', 'score': 11.33}, {'connected_gene': 'SNORD14B', 'score': 10.77}, {'connected_gene': 'GC11M017461', 'score': 0.77}]