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
ENST00000264463 [[24487208, 24488262], [24491684, 24491936], [24492925, 24493034], [24498506, 24498628], [24505220, 24505357], [24509674, 24509928], [24511435, 24511623], [24535220, 24535388], [24535811, 24535931], [24537488, 24537783], [24593368, 24593722], [24644702, 24645087]] [[24487771, 24488262], [24491684, 24491936], [24492925, 24493034], [24498506, 24498628], [24505220, 24505357], [24509674, 24509928], [24511435, 24511623], [24535220, 24535388], [24535811, 24535931], [24537488, 24537783], [24593368, 24593599]]
ENST00000510477 [[24487456, 24488262], [24491684, 24491936], [24492925, 24493034], [24498506, 24498628], [24509674, 24509928], [24511435, 24511623], [24535220, 24535388], [24535811, 24535931], [24537488, 24537783], [24593368, 24593722], [24644702, 24644889]] [[24498573, 24498628], [24509674, 24509928], [24511435, 24511623], [24535220, 24535388], [24535811, 24535931], [24537488, 24537783], [24593368, 24593599]]
ENST00000502921 [[24487254, 24488262], [24491684, 24491936], [24492925, 24493034], [24498506, 24498628], [24499446, 24499630]] None
ENST00000503958 [[24487640, 24488262], [24491684, 24491936], [24492925, 24493072]] None
NM_001317224 [[24487208, 24488256], [24491684, 24491936], [24492925, 24493034], [24498506, 24498628], [24505220, 24505357], [24509674, 24509928], [24511435, 24511623], [24535220, 24535388], [24535811, 24535931], [24537488, 24537783], [24593368, 24593608]] [[24487771, 24488256], [24491684, 24491936], [24492925, 24493034], [24498506, 24498628], [24505220, 24505357], [24509674, 24509928], [24511435, 24511623], [24535220, 24535388], [24535811, 24535931], [24537488, 24537783], [24593368, 24593599]]
NM_006727 [[24487208, 24488262], [24491684, 24491936], [24492925, 24493034], [24498506, 24498628], [24505220, 24505357], [24509674, 24509928], [24511435, 24511623], [24535220, 24535388], [24535811, 24535931], [24537488, 24537783], [24593368, 24593722], [24644702, 24645087]] [[24487771, 24488262], [24491684, 24491936], [24492925, 24493034], [24498506, 24498628], [24505220, 24505357], [24509674, 24509928], [24511435, 24511623], [24535220, 24535388], [24535811, 24535931], [24537488, 24537783], [24593368, 24593599]]
NM_001317222 [[24487208, 24488262], [24491684, 24491936], [24492925, 24493034], [24498506, 24498628], [24509674, 24509928], [24511435, 24511623], [24535220, 24535388], [24535811, 24535931], [24537488, 24537783], [24593368, 24593722], [24644702, 24645087]] [[24487771, 24488262], [24491684, 24491778]]
Promoter
Chrom Start End Description
chr5 24644821 24644834 CAGE_peak_3_at_CDH10_5end
chr5 24644839 24644850 CAGE_peak_6_at_CDH10_5end
chr5 24644851 24644868 CAGE_peak_5_at_CDH10_5end
chr5 24644931 24644947 CAGE_peak_4_at_CDH10_5end
chr5 24645032 24645068 CAGE_peak_1_at_CDH10_5end
chr5 24645078 24645096 CAGE_peak_2_at_CDH10_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I024549 24549304 24549570 0.22 [{'connected_gene': 'CDH10', 'score': 1.77}, {'connected_gene': 'ENSG00000251294', 'score': 0.77}, {'connected_gene': 'PIR31830', 'score': 0.15}]
chr5 GH05I024567 24567005 24567023 0.23 [{'connected_gene': 'CDH10', 'score': 10.88}, {'connected_gene': 'ENSG00000251294', 'score': 0.39}, {'connected_gene': 'ENSG00000249562', 'score': 0.39}]
chr5 GH05I024614 24614563 24614950 0.22 [{'connected_gene': 'CDH10', 'score': 12.21}, {'connected_gene': 'GC05M024643', 'score': 0.31}, {'connected_gene': 'GC05P024585', 'score': 0.31}]
chr5 GH05I024644 24644572 24645381 1.52 [{'connected_gene': 'CDH10', 'score': 561.26}, {'connected_gene': 'GC05M024643', 'score': 550.77}]
chr5 GH05I024595 24595388 24595766 0.22 [{'connected_gene': 'ENSG00000251294', 'score': 11.03}, {'connected_gene': 'CDH10', 'score': 4.93}, {'connected_gene': 'GC05P024585', 'score': 0.44}, {'connected_gene': 'GC05M024643', 'score': 0.25}]
chr5 GH05I024740 24740052 24740218 0.22 [{'connected_gene': 'GC05M024751', 'score': 0.44}, {'connected_gene': 'CDH10', 'score': 0.15}]
chr5 GH05I024579 24579162 24579439 0.22 [{'connected_gene': 'ENSG00000249562', 'score': 550.77}, {'connected_gene': 'ENSG00000251294', 'score': 11.35}, {'connected_gene': 'CDH10', 'score': 1.96}, {'connected_gene': 'GC05P024585', 'score': 0.44}]
chr5 GH05I024547 24547272 24547421 0.52 [{'connected_gene': 'ENSG00000251294', 'score': 0.44}, {'connected_gene': 'PIR31830', 'score': 0.15}, {'connected_gene': 'CDH10', 'score': 0.15}]