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
ENST00000481646 [[137906108, 137906441], [137907296, 137907372], [137928658, 137928735], [137940767, 137940839], [137942230, 137942373], [137942477, 137942575], [137947759, 137947852], [137953875, 137953956], [137956150, 137956226], [137956323, 137956414], [137958309, 137958370], [137960624, 137960825], [137963929, 137964025], [137982580, 137982663], [137982972, 137983054], [137985996, 137986083], [137988881, 137988974], [137991808, 137991958], [137993290, 137993386], [138003272, 138003368], [138007889, 138007962], [138009387, 138009481], [138014700, 138015391]] [[137907369, 137907372], [137928658, 137928735], [137940767, 137940839], [137942230, 137942373], [137942477, 137942575], [137947759, 137947852], [137953875, 137953956], [137956150, 137956226], [137956323, 137956414], [137958309, 137958370], [137960624, 137960825], [137963929, 137964025], [137982580, 137982663], [137982972, 137983054], [137985996, 137986083], [137988881, 137988974], [137991808, 137991958], [137993290, 137993386], [138003272, 138003368], [138007889, 138007962], [138009387, 138009481], [138014700, 138014734]]
ENST00000469044 [[137906125, 137906441], [137928658, 137928735], [137940767, 137940839], [137942230, 137942373], [137942477, 137942575], [137947759, 137947852], [137953875, 137953956], [137956150, 137956226], [137956323, 137956414], [137958309, 137958370], [137960624, 137960825], [137963929, 137964025], [137982580, 137982663], [137982972, 137983054], [137985996, 137986083], [137988881, 137988974], [137991808, 137991958], [137993290, 137993386], [138003272, 138003368], [138007889, 138007962], [138009387, 138009481], [138014700, 138017231]] [[137906396, 137906441], [137928658, 137928735], [137940767, 137940839], [137942230, 137942373], [137942477, 137942575], [137947759, 137947852], [137953875, 137953956], [137956150, 137956226], [137956323, 137956414], [137958309, 137958370], [137960624, 137960825], [137963929, 137964025], [137982580, 137982663], [137982972, 137983054], [137985996, 137986083], [137988881, 137988974], [137991808, 137991958], [137993290, 137993386], [138003272, 138003368], [138007889, 138007962], [138009387, 138009481], [138014700, 138014734]]
ENST00000491704 [[137906142, 137906441], [137907296, 137907372], [137940767, 137940839], [137942230, 137942373], [137942477, 137942575], [137947759, 137947852], [137953875, 137953956], [137956150, 137956226], [137956323, 137956414], [137958309, 137958370], [137960624, 137960825], [137963929, 137964025], [137982580, 137982663], [137982972, 137983054], [137985996, 137986083], [137988881, 137988974], [137991808, 137991958], [137993290, 137993386], [138003272, 138003368], [138007889, 138007962], [138009387, 138009481], [138014700, 138015236]] [[137940771, 137940839], [137942230, 137942373], [137942477, 137942575], [137947759, 137947852], [137953875, 137953956], [137956150, 137956226], [137956323, 137956414], [137958309, 137958370], [137960624, 137960825], [137963929, 137964025], [137982580, 137982663], [137982972, 137983054], [137985996, 137986083], [137988881, 137988974], [137991808, 137991958], [137993290, 137993386], [138003272, 138003368], [138007889, 138007962], [138009387, 138009481], [138014700, 138014734]]
ENST00000461600 [[137906146, 137906196], [137906310, 137906441], [137928658, 137928735], [137940767, 137940839], [137942230, 137942373], [137942477, 137942575], [137947759, 137947852], [137953875, 137953942]] [[137906396, 137906441], [137928658, 137928735], [137940767, 137940839], [137942230, 137942373], [137942477, 137942575], [137947759, 137947852], [137953875, 137953942]]
ENST00000466749 [[137906159, 137906441], [137907242, 137907372], [137940767, 137940839], [137942230, 137942373], [137942477, 137942575], [137947759, 137947841]] [[137940771, 137940839], [137942230, 137942373], [137942477, 137942575], [137947759, 137947841]]
ENST00000358441 [[137906183, 137906441], [137907242, 137907372], [137928658, 137928735], [137940767, 137940839], [137942230, 137942373], [137942477, 137942575], [137947759, 137947852], [137953875, 137953956], [137956150, 137956226], [137956323, 137956414], [137958309, 137958370], [137960624, 137960825], [137963929, 137965729]] [[137907369, 137907372], [137928658, 137928735], [137940767, 137940839], [137942230, 137942373], [137942477, 137942575], [137947759, 137947852], [137953875, 137953956], [137956150, 137956226], [137956323, 137956414], [137958309, 137958370], [137960624, 137960825], [137963929, 137964091]]
ENST00000489213 [[137906191, 137906441], [137940767, 137940839], [137942230, 137942373], [137942477, 137942575], [137947759, 137947852], [137953875, 137953956], [137956150, 137956226], [137956323, 137956414], [137958309, 137958370], [137960624, 137960825], [137963929, 137964477]] [[137940771, 137940839], [137942230, 137942373], [137942477, 137942575], [137947759, 137947852], [137953875, 137953956], [137956150, 137956226], [137956323, 137956414], [137958309, 137958370], [137960624, 137960825], [137963929, 137964091]]
ENST00000461822 [[137906358, 137906441], [137928658, 137928735], [137940767, 137940839], [137942230, 137942373], [137942477, 137942575], [137947759, 137947852], [137953875, 137953956], [137956150, 137956226], [137956323, 137956414], [137958309, 137958370], [137963929, 137964025], [137982580, 137982663], [137982972, 137983054], [137985996, 137986083], [137988881, 137988974], [137991808, 137991958], [137993290, 137993386], [138003272, 138003368], [138007889, 138007962], [138009387, 138009481], [138014700, 138015096]] [[137906396, 137906441], [137928658, 137928735], [137940767, 137940839], [137942230, 137942373], [137942477, 137942575], [137947759, 137947852], [137953875, 137953956], [137956150, 137956226], [137956323, 137956414], [137958309, 137958370], [137963929, 137964025], [137982580, 137982663], [137982972, 137983054], [137985996, 137986083], [137988881, 137988974], [137991808, 137991958], [137993290, 137993386], [138003272, 138003368], [138007889, 138007962], [138009387, 138009481], [138014700, 138014734]]
ENST00000485396 [[137906369, 137906441], [137940767, 137940839], [137942230, 137942373], [137942477, 137942575], [137953875, 137953956], [137956150, 137956226], [137956323, 137956414], [137958309, 137958370], [137960624, 137960825], [137963929, 137964025], [137982580, 137982663], [137982972, 137983054], [137985996, 137986083], [137988881, 137988974], [137991808, 137991958], [137993290, 137993386], [138003272, 138003368], [138007889, 138007962], [138009387, 138009481], [138014700, 138014775]] [[137940771, 137940839], [137942230, 137942373], [137942477, 137942575], [137953875, 137953956], [137956150, 137956226], [137956323, 137956414], [137958309, 137958370], [137960624, 137960825], [137963929, 137964025], [137982580, 137982663], [137982972, 137983054], [137985996, 137986083], [137988881, 137988974], [137991808, 137991958], [137993290, 137993386], [138003272, 138003368], [138007889, 138007962], [138009387, 138009481], [138014700, 138014734]]
ENST00000471453 [[137906370, 137906441], [137907296, 137907372], [137928658, 137928735], [137940767, 137940839], [137942230, 137942373], [137942477, 137942575], [137947759, 137947852], [137953875, 137953956], [137956150, 137956226], [137956323, 137956414], [137958309, 137958370], [137960624, 137960825], [137963929, 137965699]] [[137907369, 137907372], [137928658, 137928735], [137940767, 137940839], [137942230, 137942373], [137942477, 137942575], [137947759, 137947852], [137953875, 137953956], [137956150, 137956226], [137956323, 137956414], [137958309, 137958370], [137960624, 137960825], [137963929, 137964091]]
ENST00000470821 [[137906372, 137906441], [137928658, 137928735], [137940767, 137940839], [137942230, 137942373], [137942477, 137942575], [137947759, 137947852], [137953875, 137953956], [137956150, 137956226], [137956323, 137956414], [137958309, 137958370], [137960624, 137960825], [137963929, 137964523]] [[137906396, 137906441], [137928658, 137928735], [137940767, 137940839], [137942230, 137942373], [137942477, 137942575], [137947759, 137947852], [137953875, 137953956], [137956150, 137956226], [137956323, 137956414], [137958309, 137958370], [137960624, 137960825], [137963929, 137964091]]
ENST00000471709 [[137906388, 137906441], [137928658, 137928735], [137940767, 137940839], [137942230, 137942373], [137942477, 137942575], [137953875, 137953956], [137956150, 137956226], [137956323, 137956414]] [[137906396, 137906441], [137928658, 137928735], [137940767, 137940839], [137942230, 137942373], [137942477, 137942575], [137953875, 137953956], [137956150, 137956226], [137956323, 137956414]]
ENST00000538260 [[137906389, 137906441], [137928658, 137928735], [137940767, 137940839], [137942230, 137942373], [137942477, 137942575], [137953875, 137953956], [137956150, 137956226], [137956323, 137956414], [137958309, 137958370], [137960624, 137960825], [137963929, 137964025], [137982580, 137982663], [137982972, 137983054], [137985996, 137986083], [137988881, 137988974], [137991808, 137991958], [137993290, 137993386], [138003272, 138003368], [138007889, 138007962], [138009387, 138009481], [138014700, 138015263]] [[137906396, 137906441], [137928658, 137928735], [137940767, 137940839], [137942230, 137942373], [137942477, 137942575], [137953875, 137953956], [137956150, 137956226], [137956323, 137956414], [137958309, 137958370], [137960624, 137960825], [137963929, 137964025], [137982580, 137982663], [137982972, 137983054], [137985996, 137986083], [137988881, 137988974], [137991808, 137991958], [137993290, 137993386], [138003272, 138003368], [138007889, 138007962], [138009387, 138009481], [138014700, 138014734]]
ENST00000393058 [[137906389, 137906441], [137928658, 137928735], [137940767, 137940839], [137942230, 137942373], [137942477, 137942575], [137947759, 137947852], [137953875, 137953956], [137956150, 137956226], [137956323, 137956414], [137958309, 137958370], [137960624, 137960825], [137963929, 137964025], [137982580, 137982663], [137982972, 137983054], [137985996, 137986083], [137988881, 137988974], [137991808, 137991958], [137993290, 137993386], [138003272, 138003368], [138007889, 138007962], [138009387, 138009481], [138014700, 138015263]] [[137906426, 137906441], [137928658, 137928735], [137940767, 137940839], [137942230, 137942373], [137942477, 137942575], [137947759, 137947852], [137953875, 137953956], [137956150, 137956226], [137956323, 137956414], [137958309, 137958370], [137960624, 137960825], [137963929, 137964025], [137982580, 137982663], [137982972, 137983054], [137985996, 137986083], [137988881, 137988974], [137991808, 137991958], [137993290, 137993386], [138003272, 138003368], [138007889, 138007962], [138009387, 138009481], [138014700, 138014734]]
ENST00000463485 [[137906393, 137906441], [137940767, 137940839], [137947759, 137947852], [137953875, 137953956], [137956150, 137956226], [137956323, 137956414], [137958309, 137958370], [137960624, 137960825], [137963929, 137964025], [137982580, 137982663], [137982972, 137983054], [137985996, 137986071]] [[137906396, 137906441], [137940767, 137940839], [137947759, 137947852], [137953875, 137953956], [137956150, 137956226], [137956323, 137956414], [137958309, 137958370], [137960624, 137960825], [137963929, 137964025], [137982580, 137982663], [137982972, 137983054], [137985996, 137986071]]
ENST00000468560 [[137906617, 137907372], [137928658, 137928732]] [[137907369, 137907372], [137928658, 137928732]]
ENST00000470842 [[137942230, 137942373], [137942477, 137942575], [137947759, 137947893]] None
ENST00000470549 [[137942477, 137942575], [137947759, 137947852], [137953875, 137953956], [137956150, 137956226], [137958309, 137958370], [137963929, 137964172]] [[137942477, 137942575], [137947759, 137947852], [137953875, 137953956], [137956150, 137956226], [137958309, 137958314]]
ENST00000469860 [[137942477, 137942575], [137953875, 137953956], [137963929, 137964524]] [[137942477, 137942575], [137953875, 137953956], [137963929, 137964091]]
ENST00000460495 [[137956120, 137956414], [137958309, 137958370], [137960624, 137960825], [137963929, 137964025], [137982580, 137982663], [137982972, 137983054], [137985996, 137986083], [137988881, 137988974], [137991808, 137991958], [137993290, 137993386], [138003272, 138003368], [138007889, 138007962], [138009387, 138009481], [138014700, 138015383]] None
ENST00000486832 [[137956861, 137958370], [137960624, 137960825], [137963929, 137965314]] None
ENST00000466762 [[137982352, 137983054], [137985996, 137986083], [137988881, 137988974], [137991808, 137991958], [137993290, 137993386], [138003272, 138003368], [138007889, 138007962], [138009387, 138009481], [138014700, 138017215]] None
ENST00000464181 [[137991921, 137991958], [137993290, 137993386], [138003272, 138003368], [138006473, 138006856]] [[137991921, 137991958], [137993290, 137993386], [138003272, 138003368], [138006473, 138006515]]
ENST00000494015 [[138007862, 138007962], [138009387, 138009470]] None
NM_014154 [[137906089, 137906441], [137907296, 137907372], [137928658, 137928735], [137940767, 137940839], [137942230, 137942373], [137942477, 137942575], [137947759, 137947852], [137953875, 137953956], [137956150, 137956226], [137956323, 137956414], [137958309, 137958370], [137960624, 137960825], [137963929, 137965729]] [[137907369, 137907372], [137928658, 137928735], [137940767, 137940839], [137942230, 137942373], [137942477, 137942575], [137947759, 137947852], [137953875, 137953956], [137956150, 137956226], [137956323, 137956414], [137958309, 137958370], [137960624, 137960825], [137963929, 137964091]]
NM_213654 [[137906089, 137906441], [137907242, 137907372], [137928658, 137928735], [137940767, 137940839], [137942230, 137942373], [137942477, 137942575], [137947759, 137947852], [137953875, 137953956], [137956150, 137956226], [137956323, 137956414], [137958309, 137958370], [137960624, 137960825], [137963929, 137965729]] [[137907369, 137907372], [137928658, 137928735], [137940767, 137940839], [137942230, 137942373], [137942477, 137942575], [137947759, 137947852], [137953875, 137953956], [137956150, 137956226], [137956323, 137956414], [137958309, 137958370], [137960624, 137960825], [137963929, 137964091]]
NM_001282342 [[137906089, 137906441], [137940767, 137940839], [137942230, 137942373], [137942477, 137942575], [137953875, 137953956], [137956150, 137956226], [137956323, 137956414], [137958309, 137958370], [137960624, 137960825], [137963929, 137964025], [137982580, 137982663], [137982972, 137983054], [137985996, 137986083], [137988881, 137988974], [137991808, 137991958], [137993290, 137993386], [138003272, 138003368], [138007889, 138007962], [138009387, 138009481], [138014700, 138017231]] [[137940771, 137940839], [137942230, 137942373], [137942477, 137942575], [137953875, 137953956], [137956150, 137956226], [137956323, 137956414], [137958309, 137958370], [137960624, 137960825], [137963929, 137964025], [137982580, 137982663], [137982972, 137983054], [137985996, 137986083], [137988881, 137988974], [137991808, 137991958], [137993290, 137993386], [138003272, 138003368], [138007889, 138007962], [138009387, 138009481], [138014700, 138014734]]
NM_001267041 [[137906089, 137906441], [137928658, 137928735], [137940767, 137940839], [137942230, 137942373], [137942477, 137942575], [137953875, 137953956], [137956150, 137956226], [137956323, 137956414], [137958309, 137958370], [137960624, 137960825], [137963929, 137964025], [137982580, 137982663], [137982972, 137983054], [137985996, 137986083], [137988881, 137988974], [137991808, 137991958], [137993290, 137993386], [138003272, 138003368], [138007889, 138007962], [138009387, 138009481], [138014700, 138017231]] [[137906396, 137906441], [137928658, 137928735], [137940767, 137940839], [137942230, 137942373], [137942477, 137942575], [137953875, 137953956], [137956150, 137956226], [137956323, 137956414], [137958309, 137958370], [137960624, 137960825], [137963929, 137964025], [137982580, 137982663], [137982972, 137983054], [137985996, 137986083], [137988881, 137988974], [137991808, 137991958], [137993290, 137993386], [138003272, 138003368], [138007889, 138007962], [138009387, 138009481], [138014700, 138014734]]
NM_001267042 [[137906089, 137906441], [137928658, 137928735], [137940767, 137940839], [137942230, 137942373], [137942477, 137942575], [137947759, 137947852], [137953875, 137953956], [137956150, 137956226], [137956323, 137956414], [137958309, 137958370], [137963929, 137964025], [137982580, 137982663], [137982972, 137983054], [137985996, 137986083], [137988881, 137988974], [137991808, 137991958], [137993290, 137993386], [138003272, 138003368], [138007889, 138007962], [138009387, 138009481], [138014700, 138017231]] [[137906396, 137906441], [137928658, 137928735], [137940767, 137940839], [137942230, 137942373], [137942477, 137942575], [137947759, 137947852], [137953875, 137953956], [137956150, 137956226], [137956323, 137956414], [137958309, 137958370], [137963929, 137964025], [137982580, 137982663], [137982972, 137983054], [137985996, 137986083], [137988881, 137988974], [137991808, 137991958], [137993290, 137993386], [138003272, 138003368], [138007889, 138007962], [138009387, 138009481], [138014700, 138014734]]
NM_015396 [[137906089, 137906441], [137907296, 137907372], [137928658, 137928735], [137940767, 137940839], [137942230, 137942373], [137942477, 137942575], [137947759, 137947852], [137953875, 137953956], [137956150, 137956226], [137956323, 137956414], [137958309, 137958370], [137960624, 137960825], [137963929, 137964025], [137982580, 137982663], [137982972, 137983054], [137985996, 137986083], [137988881, 137988974], [137991808, 137991958], [137993290, 137993386], [138003272, 138003368], [138007889, 138007962], [138009387, 138009481], [138014700, 138017231]] [[137907369, 137907372], [137928658, 137928735], [137940767, 137940839], [137942230, 137942373], [137942477, 137942575], [137947759, 137947852], [137953875, 137953956], [137956150, 137956226], [137956323, 137956414], [137958309, 137958370], [137960624, 137960825], [137963929, 137964025], [137982580, 137982663], [137982972, 137983054], [137985996, 137986083], [137988881, 137988974], [137991808, 137991958], [137993290, 137993386], [138003272, 138003368], [138007889, 138007962], [138009387, 138009481], [138014700, 138014734]]
Promoter
Chrom Start End Description
chr3 137906119 137906153 CAGE_peak_3_at_ARMC8_5end
chr3 137906154 137906191 CAGE_peak_2_at_ARMC8_5end
chr3 137906353 137906402 CAGE_peak_1_at_ARMC8_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I139118 139118713 139122978 1.33 [{'connected_gene': 'BPESC1', 'score': 6.91}, {'connected_gene': 'ARMC8', 'score': 5.21}, {'connected_gene': 'GC03M139047', 'score': 0.31}, {'connected_gene': 'MRPS22', 'score': 0.13}]
chr3 GH03I138281 138281444 138282854 0.38 [{'connected_gene': 'NME9', 'score': 11.78}, {'connected_gene': 'DBR1', 'score': 11.36}, {'connected_gene': 'DZIP1L', 'score': 10.47}, {'connected_gene': 'GC03P138286', 'score': 0.77}, {'connected_gene': 'ARMC8', 'score': 0.16}]
chr3 GH03I138221 138221801 138223000 0.51 [{'connected_gene': 'ARMC8', 'score': 12.3}, {'connected_gene': 'DBR1', 'score': 12.14}, {'connected_gene': 'MRAS', 'score': 10.32}, {'connected_gene': 'NME9', 'score': 10.3}, {'connected_gene': 'DZIP1L', 'score': 9.58}, {'connected_gene': 'GC03P138286', 'score': 0.21}]
chr3 GH03I138219 138219385 138219553 0.37 [{'connected_gene': 'ARMC8', 'score': 13.62}, {'connected_gene': 'DBR1', 'score': 12.16}, {'connected_gene': 'DZIP1L', 'score': 9.58}, {'connected_gene': 'GC03P138286', 'score': 0.2}]
chr3 GH03I138186 138186259 138189296 2.04 [{'connected_gene': 'ARMC8', 'score': 550.77}, {'connected_gene': 'MRAS', 'score': 12.2}, {'connected_gene': 'CEP70', 'score': 11.64}, {'connected_gene': 'A4GNT', 'score': 4.1}, {'connected_gene': 'GC03P138286', 'score': 0.15}]
chr3 GH03I138199 138199469 138201461 0.83 [{'connected_gene': 'ARMC8', 'score': 0.39}, {'connected_gene': 'GC03P138286', 'score': 0.17}]
chr3 GH03I138645 138645919 138646518 0.57 [{'connected_gene': 'PPIAP72', 'score': 550.77}, {'connected_gene': 'GC03P138644', 'score': 550.77}, {'connected_gene': 'FAIM', 'score': 9.51}, {'connected_gene': 'ARMC8', 'score': 1.51}, {'connected_gene': 'PIK3CB', 'score': 1.31}, {'connected_gene': 'GAPDHP39', 'score': 0.12}]
chr3 GH03I138253 138253883 138255068 0.38 [{'connected_gene': 'GC03P138286', 'score': 0.29}, {'connected_gene': 'ARMC8', 'score': 0.2}]