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
ENST00000506729 [[101707485, 101707827], [101709040, 101709198], [101724391, 101724529], [101726684, 101726749], [101735258, 101735446], [101748693, 101748847], [101755529, 101755725], [101774320, 101774465], [101794085, 101794195], [101795359, 101795481], [101811400, 101811497], [101813379, 101813565], [101815880, 101816138], [101834190, 101834720]] [[101709055, 101709198], [101724391, 101724529], [101726684, 101726749], [101735258, 101735446], [101748693, 101748847], [101755529, 101755725], [101774320, 101774465], [101794085, 101794195], [101795359, 101795481], [101811400, 101811497], [101813379, 101813565], [101815880, 101816138], [101834190, 101834548]]
ENST00000514765 [[101707648, 101707775], [101709040, 101709198], [101724391, 101724529], [101726684, 101726933]] None
ENST00000379807 [[101707648, 101707775], [101709040, 101709198], [101724391, 101724529], [101726684, 101726749], [101735258, 101735446], [101748693, 101748847], [101755529, 101755725], [101774320, 101774465], [101794085, 101794195], [101795359, 101795481], [101811400, 101811497], [101813379, 101813565], [101815880, 101816138], [101834190, 101834683]] [[101709055, 101709198], [101724391, 101724529], [101726684, 101726749], [101735258, 101735446], [101748693, 101748847], [101755529, 101755725], [101774320, 101774465], [101794085, 101794195], [101795359, 101795481], [101811400, 101811497], [101813379, 101813565], [101815880, 101816138], [101834190, 101834548]]
ENST00000389019 [[101707648, 101707827], [101709040, 101709198], [101724391, 101724529], [101726684, 101726749], [101735258, 101735446], [101748693, 101748847], [101755529, 101755725], [101774320, 101774465], [101794085, 101794195], [101795359, 101795481], [101811400, 101811497], [101815880, 101816138], [101834190, 101834720]] [[101709055, 101709198], [101724391, 101724529], [101726684, 101726749], [101735258, 101735446], [101748693, 101748847], [101755529, 101755725], [101774320, 101774465], [101794085, 101794195], [101795359, 101795481], [101811400, 101811497], [101815880, 101816138], [101834190, 101834548]]
ENST00000513675 [[101707649, 101707775], [101709040, 101709198], [101724391, 101724529], [101726684, 101726749], [101735258, 101735446], [101748693, 101748847], [101811400, 101811497], [101815880, 101816138], [101834190, 101834617]] [[101709055, 101709198], [101724391, 101724529], [101726684, 101726749], [101735258, 101735446], [101748693, 101748847], [101811400, 101811497], [101815880, 101816138], [101834190, 101834548]]
ENST00000379810 [[101707653, 101707827], [101709040, 101709198], [101724391, 101724529], [101726684, 101726749], [101735258, 101735446], [101748693, 101748847], [101811400, 101811497], [101815880, 101816138], [101834190, 101834720]] [[101709055, 101709198], [101724391, 101724529], [101726684, 101726749], [101735258, 101735446], [101748693, 101748847], [101811400, 101811497], [101815880, 101816138], [101834190, 101834548]]
ENST00000511588 [[101707491, 101707830], [101709040, 101709133]] [[101709055, 101709133]]
ENST00000514551 [[101755626, 101755725], [101774320, 101774465], [101794085, 101794195], [101795359, 101795481], [101811400, 101811497], [101816048, 101816138], [101834190, 101834354]] None
ENST00000505739 [[101774244, 101774465], [101794085, 101794195], [101811400, 101811497], [101813379, 101813401]] None
ENST00000505407 [[101811425, 101811497], [101813379, 101813394], [101815880, 101816138], [101834190, 101834514]] None
NM_173488 [[101707485, 101707827], [101709040, 101709198], [101724391, 101724529], [101726684, 101726749], [101735258, 101735446], [101748693, 101748847], [101755529, 101755725], [101774320, 101774465], [101794085, 101794195], [101795359, 101795481], [101811400, 101811497], [101813379, 101813565], [101815880, 101816138], [101834190, 101834720]] [[101709055, 101709198], [101724391, 101724529], [101726684, 101726749], [101735258, 101735446], [101748693, 101748847], [101755529, 101755725], [101774320, 101774465], [101794085, 101794195], [101795359, 101795481], [101811400, 101811497], [101813379, 101813565], [101815880, 101816138], [101834190, 101834548]]
NM_001289002 [[101707485, 101707775], [101709040, 101709198], [101724391, 101724529], [101726684, 101726749], [101735258, 101735446], [101748693, 101748847], [101755529, 101755725], [101774320, 101774465], [101794085, 101794195], [101795359, 101795481], [101811400, 101811497], [101813379, 101813565], [101815880, 101816138], [101834190, 101834720]] [[101709055, 101709198], [101724391, 101724529], [101726684, 101726749], [101735258, 101735446], [101748693, 101748847], [101755529, 101755725], [101774320, 101774465], [101794085, 101794195], [101795359, 101795481], [101811400, 101811497], [101813379, 101813565], [101815880, 101816138], [101834190, 101834548]]
NM_001289004 [[101707485, 101707827], [101709040, 101709198], [101724391, 101724529], [101726684, 101726749], [101735258, 101735446], [101748693, 101748847], [101755529, 101755725], [101774320, 101774465], [101794085, 101794195], [101795359, 101795481], [101811400, 101811497], [101815880, 101816138], [101834190, 101834720]] [[101709055, 101709198], [101724391, 101724529], [101726684, 101726749], [101735258, 101735446], [101748693, 101748847], [101755529, 101755725], [101774320, 101774465], [101794085, 101794195], [101795359, 101795481], [101811400, 101811497], [101815880, 101816138], [101834190, 101834548]]
NM_001308014 [[101707485, 101707775], [101709040, 101709198], [101724391, 101724529], [101726684, 101726749], [101735258, 101735446], [101748693, 101748847], [101811400, 101811497], [101815880, 101816138], [101834190, 101834720]] [[101709055, 101709198], [101724391, 101724529], [101726684, 101726749], [101735258, 101735446], [101748693, 101748847], [101811400, 101811497], [101815880, 101816138], [101834190, 101834548]]
Promoter
Chrom Start End Description
chr5 101834686 101834710 CAGE_peak_1_at_SLCO6A1_5end
chr5 101834712 101834736 CAGE_peak_2_at_SLCO6A1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I102295 102294985 102297460 1.99 [{'connected_gene': 'SLCO4C1', 'score': 558.34}, {'connected_gene': 'PAM', 'score': 6.19}, {'connected_gene': 'SLCO6A1', 'score': 5.92}, {'connected_gene': 'GC05P102158', 'score': 0.12}]
chr5 GH05I102523 102523401 102523800 0.49 [{'connected_gene': 'SLCO6A1', 'score': 16.94}, {'connected_gene': 'ENSG00000249017', 'score': 11.58}, {'connected_gene': 'SLCO4C1', 'score': 6.02}, {'connected_gene': 'LINC00492', 'score': 0.22}]
chr5 GH05I102242 102242012 102242111 0.45 [{'connected_gene': 'SLCO6A1', 'score': 5.48}, {'connected_gene': 'SLCO4C1', 'score': 0.23}, {'connected_gene': 'GC05P102158', 'score': 0.18}]
chr5 GH05I102528 102528478 102530323 0.2 [{'connected_gene': 'SLCO6A1', 'score': 17.12}, {'connected_gene': 'ENSG00000249017', 'score': 11.64}, {'connected_gene': 'PAM', 'score': 4.34}, {'connected_gene': 'LINC00492', 'score': 0.23}]
chr5 GH05I102498 102498982 102499041 0.61 [{'connected_gene': 'SLCO6A1', 'score': 556.15}, {'connected_gene': 'ENSG00000249017', 'score': 550.77}, {'connected_gene': 'RN7SKP68', 'score': 0.08}]
chr5 GH05I102530 102530836 102531126 0.2 [{'connected_gene': 'ENSG00000249017', 'score': 11.63}, {'connected_gene': 'SLCO6A1', 'score': 11.63}, {'connected_gene': 'LINC00492', 'score': 0.23}]