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
ENST00000337006 [[88161454, 88162201], [88190229, 88190390], [88193834, 88194011], [88200377, 88200509], [88201745, 88201875], [88203212, 88203393], [88204442, 88204596], [88207474, 88207619], [88211276, 88211364], [88233897, 88234046], [88234129, 88234216], [88236116, 88236200], [88247576, 88248289], [88257741, 88257858], [88261235, 88261333], [88270057, 88270115], [88272349, 88272558], [88284399, 88284493], [88287464, 88287596], [88292350, 88292497], [88293249, 88293313], [88296182, 88296250], [88307603, 88307728], [88327416, 88327481], [88356689, 88356944]] [[88272479, 88272558], [88284399, 88284493], [88287464, 88287596], [88292350, 88292497], [88293249, 88293313], [88296182, 88296233]]
ENST00000376083 [[88161456, 88162201], [88190229, 88190390], [88193834, 88194011], [88200377, 88200509], [88201745, 88201875], [88203212, 88203393], [88204442, 88204596], [88207474, 88207619], [88211276, 88211364], [88233897, 88234046], [88234129, 88234216], [88236116, 88236200], [88247576, 88248289], [88257741, 88257858], [88261235, 88261333], [88270057, 88270115], [88272349, 88272558], [88275850, 88275888], [88284399, 88284493], [88287464, 88287596], [88292350, 88292497], [88293249, 88293313], [88296182, 88296250], [88307603, 88307728], [88327416, 88327481], [88356689, 88356733]] [[88162023, 88162201], [88190229, 88190390], [88193834, 88194011], [88200377, 88200509], [88201745, 88201875], [88203212, 88203393], [88204442, 88204596], [88207474, 88207619], [88211276, 88211364], [88233897, 88234046], [88234129, 88234216], [88236116, 88236200], [88247576, 88248289], [88257741, 88257858], [88261235, 88261333], [88270057, 88270115], [88272349, 88272558], [88275850, 88275888], [88284399, 88284493], [88287464, 88287596], [88292350, 88292497], [88293249, 88293313], [88296182, 88296250], [88307603, 88307728], [88327416, 88327448]]
ENST00000357081 [[88161456, 88162201], [88190229, 88190390], [88193834, 88194011], [88200377, 88200509], [88201745, 88201875], [88203212, 88203393], [88204442, 88204596], [88207474, 88207619], [88211276, 88211364], [88233897, 88234046], [88234129, 88234216], [88236116, 88236200], [88247576, 88248289], [88257741, 88257858], [88261235, 88261333], [88270057, 88270235], [88272349, 88272558], [88275850, 88275888], [88284399, 88284493], [88287464, 88287596], [88292350, 88292497], [88293249, 88293313], [88296182, 88296250], [88307603, 88307728], [88327416, 88327481], [88356689, 88356801]] [[88162023, 88162201], [88190229, 88190390], [88193834, 88194011], [88200377, 88200509], [88201745, 88201875], [88203212, 88203393], [88204442, 88204596], [88207474, 88207619], [88211276, 88211364], [88233897, 88234046], [88234129, 88234216], [88236116, 88236200], [88247576, 88248289], [88257741, 88257858], [88261235, 88261333], [88270057, 88270235], [88272349, 88272558], [88275850, 88275888], [88284399, 88284493], [88287464, 88287596], [88292350, 88292497], [88293249, 88293313], [88296182, 88296250], [88307603, 88307728], [88327416, 88327448]]
ENST00000376109 [[88161585, 88162201], [88190229, 88190390], [88193834, 88194011], [88200377, 88200509], [88201745, 88201875], [88203212, 88203393], [88204442, 88204596], [88207474, 88207619], [88211276, 88211364], [88233897, 88234046], [88234129, 88234216], [88236116, 88236200], [88247576, 88248289], [88257741, 88257858], [88261235, 88261333], [88270057, 88270115], [88272349, 88272558], [88275850, 88275888], [88284399, 88284493], [88287464, 88287596], [88292350, 88292497], [88293249, 88293313], [88296182, 88296250], [88307603, 88307728], [88356689, 88356944]] [[88162023, 88162201], [88190229, 88190390], [88193834, 88194011], [88200377, 88200509], [88201745, 88201875], [88203212, 88203393], [88204442, 88204596], [88207474, 88207619], [88211276, 88211364], [88233897, 88234046], [88234129, 88234216], [88236116, 88236200], [88247576, 88248289], [88257741, 88257858], [88261235, 88261333], [88270057, 88270115], [88272349, 88272558], [88275850, 88275888], [88284399, 88284493], [88287464, 88287596], [88292350, 88292497], [88293249, 88293313], [88296182, 88296250], [88307603, 88307728], [88356689, 88356877]]
ENST00000432218 [[88161881, 88162201], [88233897, 88234046], [88234129, 88234216], [88236116, 88236200], [88247576, 88248289], [88257741, 88257858], [88261235, 88261333], [88270057, 88270235], [88272349, 88272558], [88275850, 88275888], [88284399, 88284493], [88292350, 88292497], [88293249, 88293313], [88296182, 88296201]] [[88162118, 88162201], [88233897, 88234046], [88234129, 88234216], [88236116, 88236200], [88247576, 88248289], [88257741, 88257858], [88261235, 88261333], [88270057, 88270235], [88272349, 88272558], [88275850, 88275888], [88284399, 88284493], [88292350, 88292432]]
ENST00000376081 [[88270130, 88270235], [88284399, 88284493], [88287464, 88287596], [88292350, 88292497], [88293249, 88293313], [88296182, 88296250], [88307603, 88307728], [88327416, 88327481], [88356689, 88356803]] [[88270183, 88270235], [88284399, 88284493], [88287464, 88287596], [88292350, 88292497], [88293249, 88293313], [88296182, 88296250], [88307603, 88307728], [88327416, 88327448]]
ENST00000489265 [[88168787, 88169187], [88190229, 88190390], [88193834, 88193940]] None
ENST00000491784 [[88272352, 88272558], [88275850, 88275888], [88284399, 88284493], [88287464, 88287596], [88292350, 88292497], [88296182, 88296250], [88307603, 88307707]] None
ENST00000376080 [[88272368, 88272558], [88284399, 88284493], [88287464, 88287596], [88292350, 88292497], [88293249, 88293313], [88296182, 88296250], [88307603, 88307695]] [[88272479, 88272558], [88284399, 88284493], [88287464, 88287596], [88292350, 88292497], [88293249, 88293313], [88296182, 88296233]]
NM_001330701 [[88161453, 88162201], [88190229, 88190390], [88193834, 88194011], [88200377, 88200509], [88201745, 88201875], [88203212, 88203393], [88204442, 88204596], [88207474, 88207619], [88211276, 88211364], [88233897, 88234046], [88234129, 88234216], [88236116, 88236200], [88247576, 88248289], [88257741, 88257858], [88261235, 88261333], [88270057, 88270235], [88272349, 88272558], [88275850, 88275888], [88284399, 88284493], [88287464, 88287596], [88292350, 88292497], [88293249, 88293313], [88296182, 88296250], [88307603, 88307728], [88327416, 88327481], [88356689, 88356944]] [[88162023, 88162201], [88190229, 88190390], [88193834, 88194011], [88200377, 88200509], [88201745, 88201875], [88203212, 88203393], [88204442, 88204596], [88207474, 88207619], [88211276, 88211364], [88233897, 88234046], [88234129, 88234216], [88236116, 88236200], [88247576, 88248289], [88257741, 88257858], [88261235, 88261333], [88270057, 88270235], [88272349, 88272558], [88275850, 88275888], [88284399, 88284493], [88287464, 88287596], [88292350, 88292497], [88293249, 88293313], [88296182, 88296250], [88307603, 88307728], [88327416, 88327448]]
NM_015239 [[88161453, 88162201], [88190229, 88190390], [88193834, 88194011], [88200377, 88200509], [88201745, 88201875], [88203212, 88203393], [88204442, 88204596], [88207474, 88207619], [88211276, 88211364], [88233897, 88234046], [88234129, 88234216], [88236116, 88236200], [88247576, 88248289], [88257741, 88257858], [88261235, 88261333], [88270057, 88270115], [88272349, 88272558], [88275850, 88275888], [88284399, 88284493], [88287464, 88287596], [88292350, 88292497], [88293249, 88293313], [88296182, 88296250], [88307603, 88307728], [88327416, 88327481], [88356689, 88356944]] [[88162023, 88162201], [88190229, 88190390], [88193834, 88194011], [88200377, 88200509], [88201745, 88201875], [88203212, 88203393], [88204442, 88204596], [88207474, 88207619], [88211276, 88211364], [88233897, 88234046], [88234129, 88234216], [88236116, 88236200], [88247576, 88248289], [88257741, 88257858], [88261235, 88261333], [88270057, 88270115], [88272349, 88272558], [88275850, 88275888], [88284399, 88284493], [88287464, 88287596], [88292350, 88292497], [88293249, 88293313], [88296182, 88296250], [88307603, 88307728], [88327416, 88327448]]
NM_001286715 [[88161453, 88162201], [88190229, 88190390], [88193834, 88194011], [88200377, 88200509], [88201745, 88201875], [88203212, 88203393], [88204442, 88204596], [88207474, 88207619], [88211276, 88211364], [88233897, 88234046], [88234129, 88234216], [88236116, 88236200], [88247576, 88248289], [88257741, 88257858], [88261235, 88261333], [88270057, 88270235], [88272349, 88272558], [88275850, 88275888], [88284399, 88284493], [88287464, 88287596], [88292350, 88292497], [88293249, 88293313], [88296182, 88296250], [88307603, 88307728], [88356689, 88356944]] [[88162023, 88162201], [88190229, 88190390], [88193834, 88194011], [88200377, 88200509], [88201745, 88201875], [88203212, 88203393], [88204442, 88204596], [88207474, 88207619], [88211276, 88211364], [88233897, 88234046], [88234129, 88234216], [88236116, 88236200], [88247576, 88248289], [88257741, 88257858], [88261235, 88261333], [88270057, 88270235], [88272349, 88272558], [88275850, 88275888], [88284399, 88284493], [88287464, 88287596], [88292350, 88292497], [88293249, 88293313], [88296182, 88296250], [88307603, 88307728], [88356689, 88356877]]
NM_001286717 [[88161453, 88162201], [88190229, 88190390], [88193834, 88194011], [88200377, 88200509], [88201745, 88201875], [88203212, 88203393], [88204442, 88204596], [88207474, 88207619], [88211276, 88211364], [88233897, 88234046], [88234129, 88234216], [88236116, 88236200], [88247576, 88248289], [88257741, 88257858], [88261235, 88261333], [88270057, 88270115], [88272349, 88272558], [88275850, 88275888], [88284399, 88284493], [88287464, 88287596], [88292350, 88292497], [88293249, 88293313], [88296182, 88296250], [88307603, 88307728], [88356689, 88356944]] [[88162023, 88162201], [88190229, 88190390], [88193834, 88194011], [88200377, 88200509], [88201745, 88201875], [88203212, 88203393], [88204442, 88204596], [88207474, 88207619], [88211276, 88211364], [88233897, 88234046], [88234129, 88234216], [88236116, 88236200], [88247576, 88248289], [88257741, 88257858], [88261235, 88261333], [88270057, 88270115], [88272349, 88272558], [88275850, 88275888], [88284399, 88284493], [88287464, 88287596], [88292350, 88292497], [88293249, 88293313], [88296182, 88296250], [88307603, 88307728], [88356689, 88356877]]
Promoter
Chrom Start End Description
chr9 88356760 88356765 CAGE_peak_2_at_AGTPBP1_5end
chr9 88356789 88356903 CAGE_peak_1_at_AGTPBP1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I085647 85647181 85648600 0.52 [{'connected_gene': 'NAA35', 'score': 11.6}, {'connected_gene': 'AGTPBP1', 'score': 10.28}, {'connected_gene': 'GC09M085658', 'score': 0.37}, {'connected_gene': 'GC09M085603', 'score': 0.29}]
chr9 GH09I085706 85706668 85708017 0.31 [{'connected_gene': 'AGTPBP1', 'score': 12.15}, {'connected_gene': 'NAA35', 'score': 11.61}, {'connected_gene': 'GC09P085680', 'score': 0.31}]
chr9 GH09I085516 85516040 85517524 0.2 [{'connected_gene': 'AGTPBP1', 'score': 10.13}, {'connected_gene': 'STK33P1', 'score': 0.34}, {'connected_gene': 'LOC101927603', 'score': 0.34}]
chr9 GH09I085518 85518027 85520434 0.2 [{'connected_gene': 'AGTPBP1', 'score': 10.3}, {'connected_gene': 'LOC101927603', 'score': 0.37}, {'connected_gene': 'STK33P1', 'score': 0.31}]
chr9 GH09I085527 85527164 85528428 1.07 [{'connected_gene': 'AGTPBP1', 'score': 10.31}, {'connected_gene': 'LOC101927603', 'score': 0.39}, {'connected_gene': 'STK33P1', 'score': 0.28}]
chr9 GH09I085740 85740299 85743958 2.55 [{'connected_gene': 'AGTPBP1', 'score': 564.51}, {'connected_gene': 'LOC100130049', 'score': 20.06}, {'connected_gene': 'LOC389765', 'score': 10.25}, {'connected_gene': 'GC09M085748', 'score': 0.44}]
chr9 GH09I085630 85630554 85631525 0.31 [{'connected_gene': 'AGTPBP1', 'score': 10.25}, {'connected_gene': 'GC09M085603', 'score': 0.37}, {'connected_gene': 'GC09M085658', 'score': 0.28}]
chr9 GH09I085661 85661496 85665985 0.43 [{'connected_gene': 'AGTPBP1', 'score': 10.3}, {'connected_gene': 'GC09M085658', 'score': 0.77}, {'connected_gene': 'GC09M085603', 'score': 0.23}]
chr9 GH09I085626 85626336 85628069 0.2 [{'connected_gene': 'AGTPBP1', 'score': 10.7}, {'connected_gene': 'GC09M085603', 'score': 0.39}, {'connected_gene': 'GC09M085658', 'score': 0.28}]
chr9 GH09I085640 85640025 85641127 0.31 [{'connected_gene': 'AGTPBP1', 'score': 10.27}, {'connected_gene': 'GC09M085603', 'score': 0.31}, {'connected_gene': 'GC09M085658', 'score': 0.31}]
chr9 GH09I085656 85656113 85657154 0.2 [{'connected_gene': 'AGTPBP1', 'score': 10.29}, {'connected_gene': 'GC09M085658', 'score': 0.39}, {'connected_gene': 'GC09M085603', 'score': 0.26}]
chr9 GH09I085600 85600746 85600895 0.2 [{'connected_gene': 'AGTPBP1', 'score': 10.53}, {'connected_gene': 'GC09M085603', 'score': 0.39}, {'connected_gene': 'GC09M085536', 'score': 0.34}, {'connected_gene': 'GC09M085537', 'score': 0.34}]
chr9 GH09I085609 85609949 85610815 0.91 [{'connected_gene': 'AGTPBP1', 'score': 10.67}, {'connected_gene': 'GC09M085603', 'score': 0.77}, {'connected_gene': 'GC09M085536', 'score': 0.29}, {'connected_gene': 'GC09M085537', 'score': 0.29}]
chr9 GH09I085669 85669816 85670755 0.2 [{'connected_gene': 'AGTPBP1', 'score': 10.31}, {'connected_gene': 'GC09M085658', 'score': 0.77}, {'connected_gene': 'GC09P085680', 'score': 0.39}]
chr9 GH09I085714 85714516 85717722 1.12 [{'connected_gene': 'AGTPBP1', 'score': 13.08}, {'connected_gene': 'GC09P085680', 'score': 0.28}]
chr9 GH09I085709 85709419 85711073 0.2 [{'connected_gene': 'AGTPBP1', 'score': 10.7}, {'connected_gene': 'GC09P085680', 'score': 0.31}]
chr9 GH09I085683 85683877 85684085 0.43 [{'connected_gene': 'AGTPBP1', 'score': 4.86}, {'connected_gene': 'GC09P085680', 'score': 0.77}]
chr9 GH09I085699 85699641 85701101 0.31 [{'connected_gene': 'AGTPBP1', 'score': 22.12}, {'connected_gene': 'GC09P085680', 'score': 0.37}]
chr9 GH09I085715 85714243 85714467 0.76 [{'connected_gene': 'AGTPBP1', 'score': 17.24}, {'connected_gene': 'GC09P085680', 'score': 0.29}]
chr9 GH09I085701 85701304 85705800 0.69 [{'connected_gene': 'AGTPBP1', 'score': 13.06}, {'connected_gene': 'GC09P085680', 'score': 0.34}]
chr9 GH09I085698 85698426 85698575 0.57 [{'connected_gene': 'AGTPBP1', 'score': 17.62}, {'connected_gene': 'GC09P085680', 'score': 0.37}]
chr9 GH09I085727 85727001 85728000 0.4 [{'connected_gene': 'AGTPBP1', 'score': 0.39}, {'connected_gene': 'GC09P085680', 'score': 0.25}]
chr9 GH09I085733 85733001 85733800 0.4 [{'connected_gene': 'AGTPBP1', 'score': 10.84}, {'connected_gene': 'GC09P085680', 'score': 0.23}]
chr9 GH09I085729 85729787 85731800 0.89 [{'connected_gene': 'AGTPBP1', 'score': 13.17}, {'connected_gene': 'GC09P085680', 'score': 0.25}]
chr9 GH09I085693 85693604 85695962 0.31 [{'connected_gene': 'AGTPBP1', 'score': 10.36}, {'connected_gene': 'GC09P085680', 'score': 0.39}]
chr9 GH09I085722 85722606 85724060 0.75 [{'connected_gene': 'AGTPBP1', 'score': 13.15}, {'connected_gene': 'GC09P085680', 'score': 0.26}]
chr9 GH09I085859 85859971 85860530 0.46 [{'connected_gene': 'PIR57070', 'score': 550.77}, {'connected_gene': 'NAA35', 'score': 10.84}, {'connected_gene': 'AGTPBP1', 'score': 7.63}, {'connected_gene': 'PHBP7', 'score': 0.28}]
chr9 GH09I085549 85549132 85550555 0.2 [{'connected_gene': 'GC09P085546', 'score': 0.77}, {'connected_gene': 'GC09M085536', 'score': 0.31}, {'connected_gene': 'GC09M085537', 'score': 0.31}, {'connected_gene': 'AGTPBP1', 'score': 0.08}]
chr9 GH09I085601 85601066 85601255 0.43 [{'connected_gene': 'GC09M085603', 'score': 0.39}, {'connected_gene': 'GC09M085536', 'score': 0.34}, {'connected_gene': 'GC09M085537', 'score': 0.34}, {'connected_gene': 'AGTPBP1', 'score': 0.11}]
chr9 GH09I085680 85680068 85680110 0.22 [{'connected_gene': 'GC09P085680', 'score': 550.77}, {'connected_gene': 'GC09M085658', 'score': 0.39}, {'connected_gene': 'AGTPBP1', 'score': 0.21}]
chr9 GH09I085553 85553504 85554763 0.43 [{'connected_gene': 'GC09P085546', 'score': 0.44}, {'connected_gene': 'GC09M085536', 'score': 0.31}, {'connected_gene': 'GC09M085537', 'score': 0.31}, {'connected_gene': 'AGTPBP1', 'score': 0.09}]
chr9 GH09I085678 85678172 85679768 0.2 [{'connected_gene': 'GC09P085680', 'score': 550.77}, {'connected_gene': 'AGTPBP1', 'score': 10.33}, {'connected_gene': 'GC09M085658', 'score': 0.39}]

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