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
ENST00000262442 [[11501747, 11502232], [11511445, 11511642], [11513712, 11513871], [11514966, 11515097], [11520727, 11520939], [11522864, 11523098], [11532733, 11532901], [11535903, 11536020], [11539950, 11540101], [11543586, 11543701], [11547947, 11548016], [11550388, 11550515], [11554385, 11554641], [11556077, 11556319], [11568149, 11568285], [11572380, 11572577], [11572686, 11573111], [11583073, 11583296], [11584039, 11584206], [11592882, 11593753], [11597184, 11597315], [11597637, 11597764], [11603047, 11603200], [11604438, 11604564], [11607519, 11607759], [11608341, 11608502], [11622650, 11622807], [11631134, 11631239], [11642196, 11642354], [11645491, 11645630], [11648113, 11648401], [11650872, 11651083], [11656149, 11656277], [11659884, 11659993], [11660861, 11661009], [11666756, 11666931], [11671769, 11671943], [11672438, 11672646], [11684325, 11684491], [11686962, 11687065], [11687616, 11687856], [11696819, 11696981], [11700913, 11701110], [11711048, 11711211], [11713562, 11713686], [11725236, 11725379], [11725754, 11725916], [11726117, 11726351], [11737954, 11738215], [11757319, 11757745], [11772450, 11772570], [11774914, 11775103], [11778265, 11778501], [11783394, 11783517], [11784525, 11784730], [11786902, 11787067], [11790141, 11790282], [11795093, 11795264], [11797690, 11797813], [11806035, 11806229], [11808977, 11809126], [11827130, 11827258], [11833182, 11833410], [11835330, 11835522], [11837196, 11837388], [11840668, 11840839], [11845619, 11845802], [11865183, 11865573], [11872616, 11873065]] [[11501815, 11502232], [11511445, 11511642], [11513712, 11513871], [11514966, 11515097], [11520727, 11520939], [11522864, 11523098], [11532733, 11532901], [11535903, 11536020], [11539950, 11540101], [11543586, 11543701], [11547947, 11548016], [11550388, 11550515], [11554385, 11554641], [11556077, 11556319], [11568149, 11568285], [11572380, 11572577], [11572686, 11573111], [11583073, 11583296], [11584039, 11584206], [11592882, 11593753], [11597184, 11597315], [11597637, 11597764], [11603047, 11603200], [11604438, 11604564], [11607519, 11607759], [11608341, 11608502], [11622650, 11622807], [11631134, 11631239], [11642196, 11642354], [11645491, 11645630], [11648113, 11648401], [11650872, 11651083], [11656149, 11656277], [11659884, 11659993], [11660861, 11661009], [11666756, 11666931], [11671769, 11671943], [11672438, 11672646], [11684325, 11684491], [11686962, 11687065], [11687616, 11687856], [11696819, 11696981], [11700913, 11701110], [11711048, 11711211], [11713562, 11713686], [11725236, 11725379], [11725754, 11725916], [11726117, 11726351], [11737954, 11738215], [11757319, 11757745], [11772450, 11772570], [11774914, 11775103], [11778265, 11778501], [11783394, 11783517], [11784525, 11784730], [11786902, 11787067], [11790141, 11790282], [11795093, 11795264], [11797690, 11797813], [11806035, 11806229], [11808977, 11809126], [11827130, 11827258], [11833182, 11833410], [11835330, 11835522], [11837196, 11837388], [11840668, 11840839], [11845619, 11845802], [11865183, 11865573], [11872616, 11872844]]
ENST00000454412 [[11501815, 11502232], [11511445, 11511642], [11513712, 11513871], [11514966, 11515097], [11520727, 11520939], [11522864, 11523098], [11532733, 11532901], [11535903, 11536020], [11539950, 11540101], [11543586, 11543701], [11547947, 11548016], [11550388, 11550515], [11554385, 11554641], [11556077, 11556319], [11568149, 11568285], [11572380, 11572577], [11572686, 11573111], [11583073, 11583296], [11584039, 11584206], [11592882, 11593753], [11597184, 11597315], [11597637, 11597764], [11603047, 11603200], [11604438, 11604564], [11607519, 11607759], [11608341, 11608502], [11622650, 11622807], [11631134, 11631239], [11642196, 11642354], [11645491, 11645630], [11648113, 11648401], [11650872, 11651083], [11656149, 11656277], [11659884, 11659993], [11660861, 11661009], [11666756, 11666931], [11671769, 11671943], [11672438, 11672646], [11684325, 11684491], [11686962, 11687065], [11687616, 11687856], [11696819, 11696981], [11700913, 11701110], [11711048, 11711211], [11713562, 11713686], [11725236, 11725379], [11725754, 11725916], [11726117, 11726351], [11737954, 11738215], [11757319, 11757745], [11772450, 11772570], [11774914, 11775103], [11778265, 11778501], [11783394, 11783517], [11784525, 11784730], [11786902, 11787067], [11790141, 11790282], [11795093, 11795264], [11797690, 11797813], [11806035, 11806229], [11808977, 11809126], [11827130, 11827258], [11835330, 11835522], [11837196, 11837388], [11840668, 11840839], [11845619, 11845802], [11865183, 11865573], [11872616, 11873063]] [[11501815, 11502232], [11511445, 11511642], [11513712, 11513871], [11514966, 11515097], [11520727, 11520939], [11522864, 11523098], [11532733, 11532901], [11535903, 11536020], [11539950, 11540101], [11543586, 11543701], [11547947, 11548016], [11550388, 11550515], [11554385, 11554641], [11556077, 11556319], [11568149, 11568285], [11572380, 11572577], [11572686, 11573111], [11583073, 11583296], [11584039, 11584206], [11592882, 11593753], [11597184, 11597315], [11597637, 11597764], [11603047, 11603200], [11604438, 11604564], [11607519, 11607759], [11608341, 11608502], [11622650, 11622807], [11631134, 11631239], [11642196, 11642354], [11645491, 11645630], [11648113, 11648401], [11650872, 11651083], [11656149, 11656277], [11659884, 11659993], [11660861, 11661009], [11666756, 11666931], [11671769, 11671943], [11672438, 11672646], [11684325, 11684491], [11686962, 11687065], [11687616, 11687856], [11696819, 11696981], [11700913, 11701110], [11711048, 11711211], [11713562, 11713686], [11725236, 11725379], [11725754, 11725916], [11726117, 11726351], [11737954, 11738215], [11757319, 11757745], [11772450, 11772570], [11774914, 11775103], [11778265, 11778501], [11783394, 11783517], [11784525, 11784730], [11786902, 11787067], [11790141, 11790282], [11795093, 11795264], [11797690, 11797813], [11806035, 11806229], [11808977, 11809126], [11827130, 11827258], [11835330, 11835522], [11837196, 11837388], [11840668, 11840839], [11845619, 11845802], [11865183, 11865573], [11872616, 11872844]]
ENST00000608377 [[11786218, 11786489], [11786902, 11787067], [11790141, 11790282], [11795093, 11795264], [11797690, 11797813], [11806035, 11806229], [11808977, 11809126], [11827130, 11827258], [11833182, 11833410], [11835330, 11835522], [11837196, 11837388], [11840668, 11840839], [11845619, 11845802], [11865183, 11865573], [11872616, 11873065]] [[11790234, 11790282], [11795093, 11795264], [11797690, 11797813], [11806035, 11806229], [11808977, 11809126], [11827130, 11827258], [11833182, 11833410], [11835330, 11835522], [11837196, 11837388], [11840668, 11840839], [11845619, 11845802], [11865183, 11865573], [11872616, 11872844]]
ENST00000396001 [[11786220, 11786489], [11786902, 11787067], [11790141, 11790282], [11795093, 11795264], [11797690, 11797813], [11806035, 11806229], [11808977, 11809126], [11827130, 11827258], [11833182, 11833410], [11835330, 11835522], [11837196, 11837388], [11840668, 11840839], [11845619, 11845802], [11865183, 11865573], [11872616, 11873065]] None
ENST00000581682 [[11787650, 11787902], [11790141, 11790282], [11795093, 11795264], [11797690, 11797813], [11806035, 11806229], [11808977, 11809126], [11827130, 11827258], [11828476, 11828778]] None
ENST00000579828 [[11501786, 11502232], [11511445, 11511642], [11513712, 11513871], [11514966, 11516150]] [[11501815, 11502232], [11511445, 11511642], [11513712, 11513871], [11514966, 11515153]]
ENST00000579406 [[11501788, 11502232], [11511445, 11511642], [11513712, 11513871], [11514966, 11515097], [11520727, 11520939], [11522864, 11523098], [11532733, 11532901], [11533470, 11533831]] None
ENST00000579602 [[11513833, 11513871], [11514966, 11515097], [11515891, 11516151]] [[11513833, 11513871], [11514966, 11515097], [11515891, 11515986]]
ENST00000579813 [[11515078, 11515097], [11515859, 11516153]] [[11515078, 11515097], [11515859, 11515972]]
ENST00000585197 [[11520716, 11520939], [11522864, 11523251]] None
ENST00000583192 [[11607516, 11607759], [11608341, 11608810]] None
ENST00000584663 [[11626425, 11626790], [11631134, 11631310]] None
ENST00000578834 [[11756508, 11756562], [11757319, 11757745], [11772450, 11772512]] None
ENST00000579703 [[11757370, 11757745], [11772450, 11772570], [11778265, 11778501], [11783394, 11783517]] [[11757370, 11757745], [11772450, 11772570], [11778265, 11778501], [11783394, 11783517]]
ENST00000580255 [[11776746, 11776769], [11778265, 11778501], [11783394, 11783517], [11784525, 11784689]] None
NM_001372 [[11501747, 11502232], [11511445, 11511642], [11513712, 11513871], [11514966, 11515097], [11520727, 11520939], [11522864, 11523098], [11532733, 11532901], [11535903, 11536020], [11539950, 11540101], [11543586, 11543701], [11547947, 11548016], [11550388, 11550515], [11554385, 11554641], [11556077, 11556319], [11568149, 11568285], [11572380, 11572577], [11572686, 11573111], [11583073, 11583296], [11584039, 11584206], [11592882, 11593753], [11597184, 11597315], [11597637, 11597764], [11603047, 11603200], [11604438, 11604564], [11607519, 11607759], [11608341, 11608502], [11622650, 11622807], [11631134, 11631239], [11642196, 11642354], [11645491, 11645630], [11648113, 11648401], [11650872, 11651083], [11656149, 11656277], [11659884, 11659993], [11660861, 11661009], [11666756, 11666931], [11671769, 11671943], [11672438, 11672646], [11684325, 11684491], [11686962, 11687065], [11687616, 11687856], [11696819, 11696981], [11700913, 11701110], [11711048, 11711211], [11713562, 11713686], [11725236, 11725379], [11725754, 11725916], [11726117, 11726351], [11737954, 11738215], [11757319, 11757745], [11772450, 11772570], [11774914, 11775103], [11778265, 11778501], [11783394, 11783517], [11784525, 11784730], [11786902, 11787067], [11790141, 11790282], [11795093, 11795264], [11797690, 11797813], [11806035, 11806229], [11808977, 11809126], [11827130, 11827258], [11833182, 11833410], [11835330, 11835522], [11837196, 11837388], [11840668, 11840839], [11845619, 11845802], [11865183, 11865573], [11872616, 11873065]] [[11501815, 11502232], [11511445, 11511642], [11513712, 11513871], [11514966, 11515097], [11520727, 11520939], [11522864, 11523098], [11532733, 11532901], [11535903, 11536020], [11539950, 11540101], [11543586, 11543701], [11547947, 11548016], [11550388, 11550515], [11554385, 11554641], [11556077, 11556319], [11568149, 11568285], [11572380, 11572577], [11572686, 11573111], [11583073, 11583296], [11584039, 11584206], [11592882, 11593753], [11597184, 11597315], [11597637, 11597764], [11603047, 11603200], [11604438, 11604564], [11607519, 11607759], [11608341, 11608502], [11622650, 11622807], [11631134, 11631239], [11642196, 11642354], [11645491, 11645630], [11648113, 11648401], [11650872, 11651083], [11656149, 11656277], [11659884, 11659993], [11660861, 11661009], [11666756, 11666931], [11671769, 11671943], [11672438, 11672646], [11684325, 11684491], [11686962, 11687065], [11687616, 11687856], [11696819, 11696981], [11700913, 11701110], [11711048, 11711211], [11713562, 11713686], [11725236, 11725379], [11725754, 11725916], [11726117, 11726351], [11737954, 11738215], [11757319, 11757745], [11772450, 11772570], [11774914, 11775103], [11778265, 11778501], [11783394, 11783517], [11784525, 11784730], [11786902, 11787067], [11790141, 11790282], [11795093, 11795264], [11797690, 11797813], [11806035, 11806229], [11808977, 11809126], [11827130, 11827258], [11833182, 11833410], [11835330, 11835522], [11837196, 11837388], [11840668, 11840839], [11845619, 11845802], [11865183, 11865573], [11872616, 11872844]]
NM_004662 [[11786218, 11786489], [11786902, 11787067], [11790141, 11790282], [11795093, 11795264], [11797690, 11797813], [11806035, 11806229], [11808977, 11809126], [11827130, 11827258], [11833182, 11833410], [11835330, 11835522], [11837196, 11837388], [11840668, 11840839], [11845619, 11845802], [11865183, 11865573], [11872616, 11873065]] [[11790234, 11790282], [11795093, 11795264], [11797690, 11797813], [11806035, 11806229], [11808977, 11809126], [11827130, 11827258], [11833182, 11833410], [11835330, 11835522], [11837196, 11837388], [11840668, 11840839], [11845619, 11845802], [11865183, 11865573], [11872616, 11872844]]
Promoter
Chrom Start End Description
chr17 11501773 11501806 CAGE_peak_1_at_DNAH9_5end
chr17 11501822 11501834 CAGE_peak_2_at_DNAH9_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I011943 11943658 11945389 0.49 [{'connected_gene': 'MAP2K4', 'score': 4.97}, {'connected_gene': 'GC17M011972', 'score': 0.31}, {'connected_gene': 'LOC101928350', 'score': 0.21}, {'connected_gene': 'DNAH9', 'score': 0.05}]
chr17 GH17I011644 11644404 11644553 0.66 [{'connected_gene': 'DNAH9', 'score': 0.25}, {'connected_gene': 'LOC101928350', 'score': 0.07}]
chr17 GH17I011704 11704937 11705760 0.68 [{'connected_gene': 'DNAH9', 'score': 0.14}, {'connected_gene': 'LOC101928350', 'score': 0.1}]
chr17 GH17I011598 11598103 11599368 1.68 [{'connected_gene': 'DNAH9', 'score': 550.77}, {'connected_gene': 'GC17P011447', 'score': 0.1}, {'connected_gene': 'LOC101928350', 'score': 0.06}]
chr17 GH17I011668 11668704 11669354 0.2 [{'connected_gene': 'DNAH9', 'score': 0.19}, {'connected_gene': 'LOC101928350', 'score': 0.08}]
chr17 GH17I011608 11608000 11609187 0.76 [{'connected_gene': 'DNAH9', 'score': 0.39}, {'connected_gene': 'LOC101928350', 'score': 0.06}]
chr17 GH17I011618 11618700 11619702 0.31 [{'connected_gene': 'DNAH9', 'score': 0.34}, {'connected_gene': 'LOC101928350', 'score': 0.07}]
chr17 GH17I011781 11781987 11782236 0.22 [{'connected_gene': 'DNAH9', 'score': 3.92}, {'connected_gene': 'LOC101928350', 'score': 0.15}]
chr17 GH17I011899 11899525 11900861 0.52 [{'connected_gene': 'LOC101928350', 'score': 0.37}, {'connected_gene': 'GC17M011972', 'score': 0.19}, {'connected_gene': 'DNAH9', 'score': 0.06}]
chr17 GH17I011908 11908396 11909653 0.98 [{'connected_gene': 'LOC101928350', 'score': 0.31}, {'connected_gene': 'GC17M011972', 'score': 0.21}, {'connected_gene': 'DNAH9', 'score': 0.06}]
chr17 GH17I011971 11971664 11971685 0.22 [{'connected_gene': 'GC17M011972', 'score': 550.77}, {'connected_gene': 'DNAH9', 'score': 2.61}, {'connected_gene': 'ENSG00000266368', 'score': 0.44}, {'connected_gene': 'LOC101928350', 'score': 0.16}]
chr17 GH17I011590 11590408 11590648 0.22 [{'connected_gene': 'PIR52820', 'score': 550.77}, {'connected_gene': 'DNAH9', 'score': 14.35}, {'connected_gene': 'GC17P011447', 'score': 0.11}]
chr17 GH17I011948 11948743 11949217 0.58 [{'connected_gene': 'GC17M011972', 'score': 0.34}, {'connected_gene': 'LOC101928350', 'score': 0.2}, {'connected_gene': 'DNAH9', 'score': 0.05}]