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
ENST00000295746 [[108268715, 108270166], [108271080, 108271220], [108272494, 108272577], [108273222, 108273336], [108276064, 108276261], [108278603, 108278714], [108278800, 108278875], [108279495, 108279688], [108281972, 108282091], [108284201, 108284301], [108285343, 108285485], [108287001, 108287161], [108288235, 108288454], [108295117, 108295193], [108298127, 108298273], [108298412, 108298535], [108300261, 108300358], [108300954, 108301049], [108301823, 108301930], [108303911, 108304059], [108308120, 108308299]] [[108269995, 108270166], [108271080, 108271220], [108272494, 108272577], [108273222, 108273336], [108276064, 108276261], [108278603, 108278714], [108278800, 108278875], [108279495, 108279688], [108281972, 108282091], [108284201, 108284301], [108285343, 108285485], [108287001, 108287161], [108288235, 108288454], [108295117, 108295193], [108298127, 108298273], [108298412, 108298535], [108300261, 108300358], [108300954, 108301049], [108301823, 108301930], [108303911, 108304059], [108308120, 108308222]]
ENST00000491772 [[108268832, 108270166], [108271080, 108271220], [108272494, 108272577], [108273222, 108273336], [108276064, 108276261], [108278603, 108278714], [108278800, 108278875], [108279495, 108279688], [108281972, 108282091], [108284201, 108284301], [108285343, 108285485], [108287001, 108287161], [108288235, 108288454], [108295117, 108295193], [108298127, 108298273], [108298412, 108298535], [108300261, 108300358], [108300954, 108301049], [108301823, 108301930], [108303911, 108304059], [108304512, 108304610]] [[108269995, 108270166], [108271080, 108271220], [108272494, 108272577], [108273222, 108273336], [108276064, 108276261], [108278603, 108278714], [108278800, 108278875], [108279495, 108279688], [108281972, 108282091], [108284201, 108284301], [108285343, 108285485], [108287001, 108287161], [108288235, 108288454], [108295117, 108295193], [108298127, 108298273], [108298412, 108298535], [108300261, 108300333]]
ENST00000481530 [[108269962, 108270166], [108271080, 108271220], [108272494, 108272577], [108273222, 108273336], [108276064, 108276261], [108278603, 108278714], [108278800, 108278875], [108279495, 108279688], [108281972, 108282091], [108284201, 108284301], [108285343, 108285485], [108287001, 108287161], [108288235, 108288454], [108295117, 108295193], [108298127, 108298273], [108298412, 108298535], [108300261, 108300358], [108300954, 108300985], [108301823, 108301930], [108303911, 108304059], [108308120, 108308299]] [[108300976, 108300985], [108301823, 108301930], [108303911, 108304059], [108308120, 108308222]]
ENST00000487834 [[108279581, 108279688], [108281968, 108282091], [108284201, 108284301], [108285343, 108285485], [108287001, 108287161], [108288235, 108288454], [108295117, 108295193], [108298127, 108298273], [108298412, 108298535], [108300261, 108300358], [108300954, 108301049], [108301823, 108301930], [108303911, 108304059], [108308120, 108308491]] None
ENST00000468953 [[108300321, 108300358], [108300954, 108301049], [108301823, 108301930], [108303911, 108304059], [108304512, 108304596], [108308120, 108308303]] [[108304551, 108304596], [108308120, 108308222]]
ENST00000461666 [[108303706, 108304059], [108308120, 108308278]] None
Promoter
Chrom Start End Description
chr3 108308241 108308316 CAGE_peak_1_at_KIAA1524_5end
chr3 108308467 108308505 CAGE_peak_2_at_KIAA1524_5end
chr3 108308695 108308704 CAGE_peak_4_at_KIAA1524_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I108587 108587716 108591058 2.05 [{'connected_gene': 'DZIP3', 'score': 567.61}, {'connected_gene': 'CIP2A', 'score': 558.5}, {'connected_gene': 'ENSG00000276763', 'score': 0.39}]
chr3 GH03I108602 108602170 108604584 1.13 [{'connected_gene': 'DZIP3', 'score': 559.06}, {'connected_gene': 'MYH15', 'score': 5.61}, {'connected_gene': 'CIP2A', 'score': 0.39}, {'connected_gene': 'LOC105374033', 'score': 0.13}]
chr3 GH03I108470 108470518 108474162 0.85 [{'connected_gene': 'DZIP3', 'score': 13.44}, {'connected_gene': 'MYH15', 'score': 5.78}, {'connected_gene': 'CIP2A', 'score': 5.57}, {'connected_gene': 'RPL13P8', 'score': 4.66}, {'connected_gene': 'GC03M108465', 'score': 0.22}, {'connected_gene': 'GC03M108377', 'score': 0.18}]
chr3 GH03I107969 107969570 107971222 0.97 [{'connected_gene': 'CIP2A', 'score': 10.42}, {'connected_gene': 'LINC00636', 'score': 6.16}, {'connected_gene': 'ENSG00000279277', 'score': 0.2}]
chr3 GH03I108552 108552694 108552843 0.46 [{'connected_gene': 'MYH15', 'score': 0.77}, {'connected_gene': 'GC03P108587', 'score': 0.34}, {'connected_gene': 'CIP2A', 'score': 0.28}]
chr3 GH03I108662 108662294 108662423 0.62 [{'connected_gene': 'LOC105374033', 'score': 0.2}, {'connected_gene': 'CIP2A', 'score': 0.19}, {'connected_gene': 'DZIP3', 'score': 0.19}]