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
ENST00000521053 [[142443928, 142444158], [142444650, 142444725], [142444923, 142445026], [142445226, 142445349], [142446012, 142446168], [142446785, 142446962], [142450325, 142450469], [142451242, 142451357], [142451735, 142451879], [142458006, 142458188], [142459689, 142459849], [142476508, 142476663], [142477498, 142477648], [142480696, 142480863], [142481155, 142481291], [142482949, 142483054], [142484231, 142484327], [142487502, 142487582], [142487875, 142487998], [142488718, 142488865], [142489238, 142489426], [142490009, 142490126], [142490440, 142490548], [142498650, 142498703], [142500216, 142500376], [142504908, 142505037], [142505437, 142505583], [142517169, 142517330]] [[142505543, 142505583], [142517169, 142517249]]
ENST00000523857 [[142443928, 142444158], [142444650, 142444725], [142445226, 142445349], [142446012, 142446168], [142450325, 142450469], [142451242, 142451357], [142451735, 142451879], [142458006, 142458188], [142459689, 142459849], [142476508, 142476663], [142477498, 142477648], [142480696, 142480860], [142481155, 142481291], [142482949, 142483054], [142484101, 142484327], [142487502, 142487582], [142487875, 142487998], [142488718, 142488865], [142489238, 142489426], [142490009, 142490126], [142490440, 142490548], [142498650, 142498703], [142499796, 142499937], [142500216, 142500376], [142504908, 142505037], [142505437, 142505583], [142517169, 142517330]] [[142505543, 142505583], [142517169, 142517249]]
ENST00000430863 [[142443931, 142444158], [142444650, 142444725], [142444923, 142445026], [142445226, 142445349], [142446012, 142446168], [142446785, 142446962], [142450325, 142450469], [142451242, 142451357], [142451735, 142451879], [142458006, 142458188], [142459689, 142459849], [142476508, 142476663], [142477498, 142477648], [142480696, 142480863], [142481155, 142481291], [142482949, 142483054], [142484231, 142484327], [142486024, 142486247], [142487502, 142487582], [142487875, 142487998], [142488718, 142488865], [142489306, 142489426], [142490009, 142490126], [142490440, 142490548], [142498650, 142498703], [142500216, 142500376], [142504908, 142505037], [142505437, 142505583], [142506419, 142506601], [142517169, 142517330]] [[142444057, 142444158], [142444650, 142444725], [142444923, 142445026], [142445226, 142445349], [142446012, 142446168], [142446785, 142446962], [142450325, 142450469], [142451242, 142451357], [142451735, 142451879], [142458006, 142458188], [142459689, 142459849], [142476508, 142476663], [142477498, 142477648], [142480696, 142480863], [142481155, 142481291], [142482949, 142483054], [142484231, 142484327], [142486024, 142486247], [142487502, 142487582], [142487875, 142487998], [142488718, 142488865], [142489306, 142489426], [142490009, 142490126], [142490440, 142490548], [142498650, 142498703], [142500216, 142500376], [142504908, 142505037], [142505437, 142505583], [142506419, 142506601], [142517169, 142517249]]
ENST00000521161 [[142505010, 142505037], [142505437, 142505583], [142506419, 142506859]] [[142505010, 142505037], [142505437, 142505583], [142506419, 142506576]]
NM_207414 [[142443928, 142444158], [142444650, 142444725], [142444923, 142445026], [142445226, 142445349], [142446012, 142446168], [142446785, 142446962], [142450325, 142450469], [142451242, 142451357], [142451735, 142451879], [142458006, 142458188], [142459689, 142459849], [142476508, 142476663], [142477498, 142477648], [142480696, 142480863], [142481155, 142481291], [142482949, 142483054], [142484231, 142484327], [142486024, 142486247], [142487502, 142487582], [142487875, 142487998], [142488718, 142488865], [142489306, 142489426], [142490009, 142490126], [142490440, 142490548], [142498650, 142498703], [142500216, 142500376], [142504908, 142505037], [142505437, 142505583], [142506419, 142506601], [142517169, 142517330]] [[142444057, 142444158], [142444650, 142444725], [142444923, 142445026], [142445226, 142445349], [142446012, 142446168], [142446785, 142446962], [142450325, 142450469], [142451242, 142451357], [142451735, 142451879], [142458006, 142458188], [142459689, 142459849], [142476508, 142476663], [142477498, 142477648], [142480696, 142480863], [142481155, 142481291], [142482949, 142483054], [142484231, 142484327], [142486024, 142486247], [142487502, 142487582], [142487875, 142487998], [142488718, 142488865], [142489306, 142489426], [142490009, 142490126], [142490440, 142490548], [142498650, 142498703], [142500216, 142500376], [142504908, 142505037], [142505437, 142505583], [142506419, 142506601], [142517169, 142517249]]
NR_102364 [[142443928, 142444158], [142444650, 142444725], [142445226, 142445349], [142446012, 142446168], [142450325, 142450469], [142451242, 142451357], [142451735, 142451879], [142458006, 142458188], [142459689, 142459849], [142476508, 142476663], [142477498, 142477648], [142480696, 142480860], [142481155, 142481291], [142482949, 142483054], [142484101, 142484327], [142487502, 142487582], [142487875, 142487998], [142488718, 142488865], [142489238, 142489426], [142490009, 142490126], [142490440, 142490548], [142498650, 142498703], [142499796, 142499937], [142500216, 142500376], [142504908, 142505037], [142505437, 142505583], [142517169, 142517330]] None
NR_102363 [[142443928, 142444158], [142444650, 142444725], [142444923, 142445026], [142445226, 142445349], [142446012, 142446168], [142446785, 142446962], [142450325, 142450469], [142451242, 142451357], [142451735, 142451879], [142458006, 142458188], [142459689, 142459849], [142476508, 142476663], [142477498, 142477648], [142480696, 142480860], [142481155, 142481291], [142482949, 142483054], [142484231, 142484327], [142487502, 142487582], [142487875, 142487998], [142488718, 142488865], [142489238, 142489426], [142490009, 142490126], [142490440, 142490548], [142498650, 142498703], [142500216, 142500376], [142504908, 142505037], [142505437, 142505583], [142517169, 142517330]] None
Promoter
Chrom Start End Description
chr8 142517317 142517332 CAGE_peak_1_at_FLJ43860_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I141507 141507212 141507271 0.5 [{'connected_gene': 'MROH5', 'score': 550.77}, {'connected_gene': 'LOC105375791', 'score': 0.44}]
chr8 GH08I141508 141508041 141508190 0.67 [{'connected_gene': 'MROH5', 'score': 550.77}, {'connected_gene': 'LOC105375791', 'score': 0.44}]
chr8 GH08I141567 141567061 141567230 0.69 [{'connected_gene': 'MROH5', 'score': 12.09}, {'connected_gene': 'GC08P141529', 'score': 0.28}, {'connected_gene': 'MIR1302-7', 'score': 0.08}]
chr8 GH08I141548 141548181 141548310 0.2 [{'connected_gene': 'MROH5', 'score': 12.34}, {'connected_gene': 'ENSG00000226490', 'score': 12.14}, {'connected_gene': 'GC08P141529', 'score': 0.37}, {'connected_gene': 'MIR1302-7', 'score': 0.07}]
chr8 GH08I141446 141446189 141447303 0.52 [{'connected_gene': 'LOC105375789', 'score': 550.77}, {'connected_gene': 'ENSG00000238854', 'score': 550.77}, {'connected_gene': 'HNRNPA1P38', 'score': 8.34}, {'connected_gene': 'FP248', 'score': 6.69}, {'connected_gene': 'MROH5', 'score': 0.21}]
chr8 GH08I141433 141433707 141434497 0.77 [{'connected_gene': 'FP248', 'score': 555.86}, {'connected_gene': 'TSNARE1', 'score': 9.66}, {'connected_gene': 'PTK2', 'score': 4.96}, {'connected_gene': 'PIR43419', 'score': 0.34}, {'connected_gene': 'MROH5', 'score': 0.19}]
chr8 GH08I141473 141473230 141473930 0.43 [{'connected_gene': 'FP248', 'score': 5.21}, {'connected_gene': 'HNRNPA1P38', 'score': 0.39}, {'connected_gene': 'MROH5', 'score': 0.29}]