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
ENST00000527260 [[102932804, 102933143], [102936997, 102937102], [102937187, 102937296], [102953476, 102953568], [102953984, 102954055], [102959955, 102960047]] [[102933026, 102933143], [102936997, 102937102], [102937187, 102937296], [102953476, 102953568], [102953984, 102954055], [102959955, 102960047]]
ENST00000260247 [[102932807, 102933143], [102935003, 102935106], [102936997, 102937102], [102937187, 102937296], [102953476, 102953568], [102953984, 102954055], [102959955, 102960047], [102962515, 102962944]] [[102933087, 102933143], [102935003, 102935106], [102936997, 102937102], [102937187, 102937296], [102953476, 102953568], [102953984, 102954055], [102959955, 102960047], [102962515, 102962601]]
ENST00000531571 [[102932826, 102933143], [102935003, 102935106], [102936997, 102937102], [102937187, 102937296], [102953476, 102953568], [102953984, 102954055], [102959955, 102960047], [102962244, 102962890]] [[102962397, 102962601]]
ENST00000531543 [[102932833, 102933143], [102935003, 102935106], [102936997, 102937102], [102937187, 102937296], [102962515, 102962918]] [[102933087, 102933143], [102935003, 102935106], [102936997, 102937102], [102937187, 102937296], [102962515, 102962601]]
ENST00000529281 [[102932899, 102933143], [102935003, 102935106], [102936997, 102937102], [102937187, 102937296], [102953476, 102953568], [102953984, 102954055], [102959955, 102960047], [102962412, 102962906]] [[102960020, 102960047], [102962412, 102962601]]
ENST00000529294 [[102933074, 102933143], [102935003, 102935106], [102936997, 102937102], [102937187, 102937296], [102953984, 102954055], [102959955, 102960047], [102962412, 102962590]] [[102960020, 102960047], [102962412, 102962590]]
ENST00000527576 [[102933109, 102933143], [102935003, 102935106], [102936997, 102937102], [102937187, 102937296], [102953984, 102954055], [102962515, 102962883]] [[102954048, 102954055], [102962515, 102962601]]
ENST00000527779 [[102935003, 102935106], [102936997, 102937102], [102937187, 102937296], [102953984, 102954055], [102959955, 102960047], [102962515, 102962877]] [[102937290, 102937296], [102953984, 102954055], [102959955, 102960047], [102962515, 102962601]]
ENST00000583974 [[102937187, 102937296], [102950637, 102950726], [102953476, 102953568]] [[102950689, 102950726], [102953476, 102953568]]
ENST00000525420 [[102937216, 102937296], [102953476, 102953568], [102953984, 102954055], [102962515, 102962923]] [[102954048, 102954055], [102962515, 102962601]]
ENST00000529076 [[102959999, 102960038], [102962412, 102962855]] None
NM_001318739 [[102921412, 102933143], [102935003, 102935106], [102936997, 102937102], [102937187, 102937296], [102953476, 102953568], [102953984, 102954055], [102959955, 102960047], [102962412, 102962944]] [[102933087, 102933143], [102935003, 102935106], [102936997, 102937102], [102937187, 102937296], [102953476, 102953568], [102953984, 102954026]]
NM_001318741 [[102921412, 102933143], [102935003, 102935106], [102936997, 102937102], [102937187, 102937296], [102953984, 102954055], [102959955, 102960047], [102962412, 102962944]] [[102933087, 102933143], [102935003, 102935106], [102936997, 102937102], [102937187, 102937296], [102953984, 102953986]]
NM_032299 [[102921412, 102933143], [102935003, 102935106], [102936997, 102937102], [102937187, 102937296], [102953476, 102953568], [102953984, 102954055], [102959955, 102960047], [102962515, 102962944]] [[102933087, 102933143], [102935003, 102935106], [102936997, 102937102], [102937187, 102937296], [102953476, 102953568], [102953984, 102954055], [102959955, 102960047], [102962515, 102962601]]
NM_001318740 [[102921412, 102933143], [102935003, 102935106], [102936997, 102937102], [102937187, 102937296], [102953984, 102954055], [102959955, 102960047], [102962515, 102962944]] [[102933087, 102933143], [102935003, 102935106], [102936997, 102937102], [102937187, 102937296], [102953984, 102953986]]
Promoter
Chrom Start End Description
chr11 102962818 102962842 CAGE_peak_2_at_DCUN1D5_5end
chr11 102962853 102962864 CAGE_peak_3_at_DCUN1D5_5end
chr11 102962874 102962927 CAGE_peak_1_at_DCUN1D5_5end
chr11 102962929 102962940 CAGE_peak_4_at_DCUN1D5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I103090 103090416 103092971 2.03 [{'connected_gene': 'DCUN1D5', 'score': 550.77}, {'connected_gene': 'DYNC2H1', 'score': 7.48}, {'connected_gene': 'ENSG00000260966', 'score': 0.28}]
chr11 GH11I103089 103089001 103089600 0.31 [{'connected_gene': 'DYNC2H1', 'score': 18.62}, {'connected_gene': 'DCUN1D5', 'score': 0.77}, {'connected_gene': 'ENSG00000260966', 'score': 0.29}]
chr11 GH11I103069 103069892 103070748 0.38 [{'connected_gene': 'DYNC2H1', 'score': 17.65}, {'connected_gene': 'DCUN1D5', 'score': 12.31}, {'connected_gene': 'ENSG00000260966', 'score': 0.39}]
chr11 GH11I103056 103055532 103055681 0.38 [{'connected_gene': 'ENSG00000260966', 'score': 550.77}, {'connected_gene': 'MMP13', 'score': 9.96}, {'connected_gene': 'MMP27', 'score': 9.41}, {'connected_gene': 'GC11P103046', 'score': 0.39}, {'connected_gene': 'DCUN1D5', 'score': 0.28}]
chr11 GH11I103055 103055332 103055441 0.52 [{'connected_gene': 'ENSG00000260966', 'score': 550.77}, {'connected_gene': 'MMP13', 'score': 9.96}, {'connected_gene': 'MMP27', 'score': 9.41}, {'connected_gene': 'GC11P103046', 'score': 0.39}, {'connected_gene': 'DCUN1D5', 'score': 0.28}]