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
ENST00000265944 [[26223195, 26223257], [26224672, 26224759], [26241022, 26241207], [26243802, 26243937], [26285418, 26285523], [26286087, 26286187], [26305748, 26305825], [26310431, 26310577], [26312950, 26313016], [26315305, 26315461], [26355903, 26356003], [26357696, 26357813], [26359039, 26359144], [26359246, 26359330], [26377131, 26377334], [26385309, 26385408], [26385496, 26385611], [26409604, 26409731], [26414326, 26414537], [26417319, 26417467], [26432376, 26432530], [26434374, 26434463], [26436358, 26436488], [26442778, 26442858], [26443674, 26443752], [26446238, 26446444], [26454995, 26455107], [26457640, 26457803], [26459344, 26459468], [26462591, 26463486], [26465629, 26465774], [26482133, 26482240], [26490193, 26490234], [26491892, 26492036], [26500771, 26501456]] [[26241039, 26241207], [26243802, 26243937], [26285418, 26285523], [26286087, 26286187], [26305748, 26305825], [26310431, 26310577], [26312950, 26313016], [26315305, 26315461], [26355903, 26356003], [26357696, 26357813], [26359039, 26359144], [26359246, 26359330], [26377131, 26377334], [26385309, 26385408], [26385496, 26385611], [26409604, 26409731], [26414326, 26414537], [26417319, 26417467], [26432376, 26432530], [26434374, 26434463], [26436358, 26436488], [26442778, 26442858], [26443674, 26443752], [26446238, 26446444], [26454995, 26455107], [26457640, 26457803], [26459344, 26459468], [26462591, 26463486], [26465629, 26465774], [26482133, 26482240], [26490193, 26490234], [26491892, 26492036], [26500771, 26500892]]
ENST00000543632 [[26224716, 26224759], [26241022, 26241207], [26243802, 26243937], [26285418, 26285523], [26286087, 26286187], [26305748, 26305825], [26310431, 26310577], [26312950, 26313016], [26315305, 26315461], [26355903, 26356003], [26357696, 26357813], [26359039, 26359144], [26359246, 26359330], [26377131, 26377334], [26385309, 26385408], [26385496, 26385611], [26500771, 26501138]] [[26241039, 26241207], [26243802, 26243937], [26285418, 26285523], [26286087, 26286187], [26305748, 26305825], [26310431, 26310577], [26312950, 26313016], [26315305, 26315461], [26355903, 26356003], [26357696, 26357813], [26359039, 26359144], [26359246, 26359330], [26377131, 26377334], [26385309, 26385408], [26385496, 26385611], [26500771, 26500990]]
ENST00000376302 [[26223202, 26223257], [26224672, 26224759], [26241022, 26241207], [26243802, 26243937], [26285418, 26285523], [26286087, 26286187], [26305748, 26305825], [26310431, 26312410]] [[26241039, 26241207], [26243802, 26243937], [26285418, 26285523], [26286087, 26286187], [26305748, 26305825], [26310431, 26310590]]
ENST00000376301 [[26241028, 26241207], [26243802, 26243937], [26285418, 26285523], [26286087, 26286187], [26305748, 26305956]] [[26241039, 26241207], [26243802, 26243937], [26285418, 26285523], [26286087, 26286187], [26305748, 26305834]]
ENST00000477691 [[26454770, 26455107], [26457640, 26457767]] None
ENST00000478093 [[26491952, 26492036], [26493013, 26493431]] None
NM_017433 [[26223001, 26223257], [26224672, 26224759], [26241022, 26241207], [26243802, 26243937], [26285418, 26285523], [26286087, 26286187], [26305748, 26305825], [26310431, 26310577], [26312950, 26313016], [26315305, 26315461], [26355903, 26356003], [26357696, 26357813], [26359039, 26359144], [26359246, 26359330], [26377131, 26377334], [26385309, 26385408], [26385496, 26385611], [26409604, 26409731], [26414326, 26414537], [26417319, 26417467], [26432376, 26432530], [26434374, 26434463], [26436358, 26436488], [26442778, 26442858], [26443674, 26443752], [26446238, 26446444], [26454995, 26455107], [26457640, 26457803], [26459344, 26459468], [26462591, 26463486], [26465629, 26465774], [26482133, 26482240], [26490193, 26490234], [26491892, 26492036], [26500771, 26501465]] [[26241039, 26241207], [26243802, 26243937], [26285418, 26285523], [26286087, 26286187], [26305748, 26305825], [26310431, 26310577], [26312950, 26313016], [26315305, 26315461], [26355903, 26356003], [26357696, 26357813], [26359039, 26359144], [26359246, 26359330], [26377131, 26377334], [26385309, 26385408], [26385496, 26385611], [26409604, 26409731], [26414326, 26414537], [26417319, 26417467], [26432376, 26432530], [26434374, 26434463], [26436358, 26436488], [26442778, 26442858], [26443674, 26443752], [26446238, 26446444], [26454995, 26455107], [26457640, 26457803], [26459344, 26459468], [26462591, 26463486], [26465629, 26465774], [26482133, 26482240], [26490193, 26490234], [26491892, 26492036], [26500771, 26500892]]
Promoter
Chrom Start End Description
chr10 26223126 26223136 CAGE_peak_6_at_MYO3A_5end
chr10 26223137 26223175 CAGE_peak_1_at_MYO3A_5end
chr10 26223200 26223212 CAGE_peak_4_at_MYO3A_5end
chr10 26223250 26223262 CAGE_peak_2_at_MYO3A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I026000 26000970 26001166 0.23 [{'connected_gene': 'MYO3A', 'score': 15.42}, {'connected_gene': 'GAD2', 'score': 2.5}, {'connected_gene': 'GC10P025995', 'score': 0.44}, {'connected_gene': 'GC10P026192', 'score': 0.08}]
chr10 GH10I025933 25933720 25935132 1.9 [{'connected_gene': 'MYO3A', 'score': 581.65}, {'connected_gene': 'LOC101929073', 'score': 550.77}, {'connected_gene': 'GAD2', 'score': 4.91}, {'connected_gene': 'GC10P025995', 'score': 0.21}]
chr10 GH10I025765 25765610 25767236 1.07 [{'connected_gene': 'MYO3A', 'score': 4.89}, {'connected_gene': 'RNA5SP306', 'score': 0.25}, {'connected_gene': 'HIRAP1', 'score': 0.19}]
chr10 GH10I025753 25753777 25754201 0.83 [{'connected_gene': 'MYO3A', 'score': 4.77}, {'connected_gene': 'RNA5SP306', 'score': 0.22}, {'connected_gene': 'HIRAP1', 'score': 0.21}]
chr10 GH10I026213 26213880 26214981 0.6 [{'connected_gene': 'GAD2', 'score': 554.17}, {'connected_gene': 'GC10M026212', 'score': 550.77}, {'connected_gene': 'MYO3A', 'score': 1.96}, {'connected_gene': 'GC10P026192', 'score': 0.34}]
chr10 GH10I025901 25901434 25902957 0.59 [{'connected_gene': 'GC10M025807', 'score': 550.77}, {'connected_gene': 'MYO3A', 'score': 18.94}, {'connected_gene': 'LOC101929073', 'score': 12.68}, {'connected_gene': 'LOC105376460', 'score': 0.77}]