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
ENST00000261588 [[27561472, 27561498], [27585221, 27585277], [27629745, 27629822], [27639981, 27640151], [27642385, 27642483], [27659924, 27660056], [27689049, 27689317], [27692719, 27692851], [27709648, 27709821], [27710854, 27710920], [27712909, 27713016], [27715216, 27715319], [27720025, 27720241], [27732878, 27733016], [27751361, 27752241], [27760904, 27761627], [27763039, 27763245], [27765493, 27765572], [27772733, 27772911], [27777629, 27777795], [27781181, 27781339], [27782908, 27782973], [27784419, 27784530], [27786265, 27786405], [27788248, 27788350], [27788930, 27789091], [27789201, 27789290], [27789894, 27791690]] [[27561491, 27561498], [27585221, 27585277], [27629745, 27629822], [27639981, 27640151], [27642385, 27642483], [27659924, 27660056], [27689049, 27689317], [27692719, 27692851], [27709648, 27709821], [27710854, 27710920], [27712909, 27713016], [27715216, 27715319], [27720025, 27720241], [27732878, 27733016], [27751361, 27752241], [27760904, 27761627], [27763039, 27763245], [27765493, 27765572], [27772733, 27772911], [27777629, 27777795], [27781181, 27781339], [27782908, 27782973], [27784419, 27784530], [27786265, 27786405], [27788248, 27788350], [27788930, 27789091], [27789201, 27789290], [27789894, 27789950]]
ENST00000568258 [[27585227, 27585277], [27629745, 27629822], [27639981, 27640151], [27642385, 27642483], [27659924, 27660056], [27665928, 27666057], [27689049, 27689139]] [[27585227, 27585277], [27629745, 27629822], [27639981, 27640151], [27642385, 27642483], [27659924, 27660056], [27665928, 27666057], [27689049, 27689139]]
ENST00000565672 [[27585242, 27585277], [27639981, 27640151], [27642385, 27642483], [27659924, 27660056], [27665928, 27666057], [27689049, 27689252]] [[27585242, 27585277], [27639981, 27640113]]
ENST00000564749 [[27639908, 27640151], [27642385, 27642483], [27659924, 27660056], [27665928, 27666019]] None
ENST00000567894 [[27643784, 27643924], [27659924, 27660056], [27665928, 27666057], [27689049, 27689317], [27692719, 27692851], [27709648, 27709821], [27710854, 27710920], [27712909, 27713016], [27715216, 27715319], [27720025, 27720241], [27732878, 27733016], [27738536, 27739194]] None
ENST00000566023 [[27561453, 27561498], [27585221, 27585616]] None
ENST00000573850 [[27709648, 27709821], [27712909, 27713016], [27715216, 27715319], [27720034, 27720241], [27732878, 27733016], [27760904, 27761627], [27763039, 27763245], [27765493, 27767073]] None
ENST00000562207 [[27712754, 27713016], [27715216, 27715275]] None
ENST00000568622 [[27788186, 27788350], [27788930, 27789091], [27789201, 27789290], [27789894, 27790050]] None
NM_015202 [[27561467, 27561498], [27585221, 27585277], [27629745, 27629822], [27639981, 27640151], [27642385, 27642483], [27659924, 27660056], [27689049, 27689317], [27692719, 27692851], [27709648, 27709821], [27710854, 27710920], [27712909, 27713016], [27715216, 27715319], [27720025, 27720241], [27732878, 27733016], [27751361, 27752241], [27760904, 27761627], [27763039, 27763245], [27765493, 27765572], [27772733, 27772911], [27777629, 27777795], [27781181, 27781339], [27782908, 27782973], [27784419, 27784530], [27786265, 27786405], [27788248, 27788350], [27788930, 27789091], [27789201, 27789290], [27789894, 27791692]] [[27561491, 27561498], [27585221, 27585277], [27629745, 27629822], [27639981, 27640151], [27642385, 27642483], [27659924, 27660056], [27689049, 27689317], [27692719, 27692851], [27709648, 27709821], [27710854, 27710920], [27712909, 27713016], [27715216, 27715319], [27720025, 27720241], [27732878, 27733016], [27751361, 27752241], [27760904, 27761627], [27763039, 27763245], [27765493, 27765572], [27772733, 27772911], [27777629, 27777795], [27781181, 27781339], [27782908, 27782973], [27784419, 27784530], [27786265, 27786405], [27788248, 27788350], [27788930, 27789091], [27789201, 27789290], [27789894, 27789950]]
Promoter
Chrom Start End Description
chr16 27561449 27561481 CAGE_peak_1_at_KIAA0556_5end
chr16 27561495 27561506 CAGE_peak_2_at_KIAA0556_5end
chr16 27643774 27643785 CAGE_peak_3_at_KIAA0556_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I027169 27169529 27170289 1.15 [{'connected_gene': 'KDM8', 'score': 6.52}, {'connected_gene': 'IL21R', 'score': 5.18}, {'connected_gene': 'KIAA0556', 'score': 1.66}, {'connected_gene': 'LINC02129', 'score': 0.44}, {'connected_gene': 'LOC105371155', 'score': 0.37}]
chr16 GH16I027522 27522191 27522484 0.26 [{'connected_gene': 'IL21R', 'score': 2.27}, {'connected_gene': 'KIAA0556', 'score': 2.0}, {'connected_gene': 'GTF3C1', 'score': 1.74}, {'connected_gene': 'KDM8', 'score': 1.74}, {'connected_gene': 'IL21R-AS1', 'score': 0.2}]
chr16 GH16I027312 27312980 27332565 2.78 [{'connected_gene': 'IL4R', 'score': 572.71}, {'connected_gene': 'FLJ21408', 'score': 16.93}, {'connected_gene': 'NSMCE1', 'score': 12.49}, {'connected_gene': 'GTF3C1', 'score': 9.91}, {'connected_gene': 'IL21R', 'score': 7.1}, {'connected_gene': 'KIAA0556', 'score': 6.79}, {'connected_gene': 'GSG1L', 'score': 5.01}, {'connected_gene': 'ENSG00000259940', 'score': 4.64}, {'connected_gene': 'KDM8', 'score': 1.99}, {'connected_gene': 'ENSG00000274092', 'score': 0.44}, {'connected_gene': 'PIR58561', 'score': 0.37}]
chr16 GH16I027252 27252915 27255032 1.45 [{'connected_gene': 'IL4R', 'score': 16.46}, {'connected_gene': 'KIAA0556', 'score': 1.88}, {'connected_gene': 'FLJ21408', 'score': 0.39}, {'connected_gene': 'NSMCE1', 'score': 0.39}, {'connected_gene': 'ENSG00000259940', 'score': 0.28}]
chr16 GH16I027286 27285802 27288399 1.46 [{'connected_gene': 'IL4R', 'score': 24.53}, {'connected_gene': 'ENSG00000259940', 'score': 7.03}, {'connected_gene': 'KIAA0556', 'score': 5.99}, {'connected_gene': 'FLJ21408', 'score': 0.37}, {'connected_gene': 'NSMCE1', 'score': 0.37}]
chr16 GH16I027299 27299742 27300662 1.06 [{'connected_gene': 'IL4R', 'score': 10.25}, {'connected_gene': 'KIAA0556', 'score': 5.5}, {'connected_gene': 'NSMCE1', 'score': 0.29}]
chr16 GH16I027759 27759013 27760829 1.03 [{'connected_gene': 'IL21R-AS1', 'score': 22.21}, {'connected_gene': 'IL4R', 'score': 1.96}, {'connected_gene': 'LOC105371157', 'score': 0.39}, {'connected_gene': 'GC16M027762', 'score': 0.37}, {'connected_gene': 'KIAA0556', 'score': 0.08}]
chr16 GH16I027690 27690155 27693479 0.67 [{'connected_gene': 'IL21R-AS1', 'score': 22.03}, {'connected_gene': 'KIAA0556', 'score': 13.07}, {'connected_gene': 'NPIPB8', 'score': 10.97}, {'connected_gene': 'ENSG00000273553', 'score': 0.77}, {'connected_gene': 'LOC100128079', 'score': 0.31}, {'connected_gene': 'PIR62239', 'score': 0.31}]
chr16 GH16I027640 27640080 27640229 0.59 [{'connected_gene': 'IL21R-AS1', 'score': 22.77}, {'connected_gene': 'ENSG00000261736', 'score': 0.77}, {'connected_gene': 'GC16M027636', 'score': 0.25}, {'connected_gene': 'KIAA0556', 'score': 0.16}]
chr16 GH16I027780 27780020 27780169 0.54 [{'connected_gene': 'IL21R-AS1', 'score': 20.19}, {'connected_gene': 'GC16M027762', 'score': 0.77}, {'connected_gene': 'GC16P027839', 'score': 0.22}, {'connected_gene': 'KIAA0556', 'score': 0.07}]
chr16 GH16I027634 27634374 27635665 0.2 [{'connected_gene': 'IL21R-AS1', 'score': 11.57}, {'connected_gene': 'ENSG00000261736', 'score': 0.44}, {'connected_gene': 'KIAA0556', 'score': 0.18}]
chr16 GH16I027625 27624471 27626887 0.97 [{'connected_gene': 'IL21R-AS1', 'score': 24.31}, {'connected_gene': 'GSG1L', 'score': 10.65}, {'connected_gene': 'ENSG00000261736', 'score': 0.37}, {'connected_gene': 'KIAA0556', 'score': 0.18}]
chr16 GH16I027577 27577979 27580087 1.11 [{'connected_gene': 'IL21R-AS1', 'score': 31.86}, {'connected_gene': 'GSG1L', 'score': 10.29}, {'connected_gene': 'KIAA0556', 'score': 0.31}, {'connected_gene': 'ENSG00000261736', 'score': 0.21}]
chr16 GH16I027709 27709418 27713647 0.2 [{'connected_gene': 'IL21R-AS1', 'score': 23.31}, {'connected_gene': 'GSG1L', 'score': 10.58}, {'connected_gene': 'LOC100128079', 'score': 0.44}, {'connected_gene': 'PIR62239', 'score': 0.44}, {'connected_gene': 'ENSG00000273553', 'score': 0.34}, {'connected_gene': 'KIAA0556', 'score': 0.1}]
chr16 GH16I027713 27713791 27715608 0.2 [{'connected_gene': 'IL21R-AS1', 'score': 21.55}, {'connected_gene': 'GSG1L', 'score': 10.58}, {'connected_gene': 'LOC100128079', 'score': 0.77}, {'connected_gene': 'PIR62239', 'score': 0.77}, {'connected_gene': 'ENSG00000273553', 'score': 0.31}, {'connected_gene': 'KIAA0556', 'score': 0.1}]
chr16 GH16I027675 27675204 27676322 0.2 [{'connected_gene': 'IL21R-AS1', 'score': 23.74}, {'connected_gene': 'GSG1L', 'score': 10.56}, {'connected_gene': 'GC16M027636', 'score': 0.39}, {'connected_gene': 'ENSG00000261736', 'score': 0.29}, {'connected_gene': 'LOC100128079', 'score': 0.26}, {'connected_gene': 'KIAA0556', 'score': 0.13}]
chr16 GH16I027769 27769190 27771215 0.63 [{'connected_gene': 'IL21R-AS1', 'score': 10.5}, {'connected_gene': 'GC16M027762', 'score': 0.44}, {'connected_gene': 'LOC105371157', 'score': 0.34}, {'connected_gene': 'KIAA0556', 'score': 0.07}]
chr16 GH16I027705 27705621 27708087 0.31 [{'connected_gene': 'IL21R-AS1', 'score': 21.54}, {'connected_gene': 'LOC100128079', 'score': 0.39}, {'connected_gene': 'PIR62239', 'score': 0.39}, {'connected_gene': 'ENSG00000273553', 'score': 0.37}, {'connected_gene': 'KIAA0556', 'score': 0.1}]
chr16 GH16I027700 27700033 27701539 0.31 [{'connected_gene': 'IL21R-AS1', 'score': 24.59}, {'connected_gene': 'ENSG00000273553', 'score': 0.39}, {'connected_gene': 'LOC100128079', 'score': 0.37}, {'connected_gene': 'PIR62239', 'score': 0.37}, {'connected_gene': 'KIAA0556', 'score': 0.1}]
chr16 GH16I027708 27708100 27709216 0.2 [{'connected_gene': 'IL21R-AS1', 'score': 21.56}, {'connected_gene': 'PIR62239', 'score': 0.44}, {'connected_gene': 'LOC100128079', 'score': 0.39}, {'connected_gene': 'ENSG00000273553', 'score': 0.34}, {'connected_gene': 'KIAA0556', 'score': 0.1}]
chr16 GH16I027548 27548063 27551611 2.03 [{'connected_gene': 'KIAA0556', 'score': 550.77}, {'connected_gene': 'GTF3C1', 'score': 550.77}, {'connected_gene': 'IL21R-AS1', 'score': 31.88}]
chr16 GH16I027571 27571900 27572049 0.43 [{'connected_gene': 'KIAA0556', 'score': 0.34}, {'connected_gene': 'ENSG00000261736', 'score': 0.19}]
chr16 GH16I027565 27565780 27566044 0.36 [{'connected_gene': 'KIAA0556', 'score': 0.37}, {'connected_gene': 'ENSG00000261736', 'score': 0.18}]
chr16 GH16I027572 27572380 27572601 0.66 [{'connected_gene': 'KIAA0556', 'score': 0.34}, {'connected_gene': 'ENSG00000261736', 'score': 0.19}]
chr16 GH16I027560 27560800 27561009 0.2 [{'connected_gene': 'KIAA0556', 'score': 0.39}, {'connected_gene': 'ENSG00000261736', 'score': 0.18}]
chr16 GH16I027624 27624320 27624469 0.2 [{'connected_gene': 'GSG1L', 'score': 10.65}, {'connected_gene': 'ENSG00000261736', 'score': 0.37}, {'connected_gene': 'KIAA0556', 'score': 0.19}]
chr16 GH16I027627 27627149 27627211 0.2 [{'connected_gene': 'GSG1L', 'score': 10.65}, {'connected_gene': 'ENSG00000261736', 'score': 0.37}, {'connected_gene': 'KIAA0556', 'score': 0.18}]
chr16 GH16I027676 27676460 27678139 0.58 [{'connected_gene': 'GSG1L', 'score': 10.56}, {'connected_gene': 'GC16M027636', 'score': 0.44}, {'connected_gene': 'ENSG00000261736', 'score': 0.29}, {'connected_gene': 'LOC100128079', 'score': 0.26}, {'connected_gene': 'KIAA0556', 'score': 0.13}]
chr16 GH16I027746 27746240 27746389 0.2 [{'connected_gene': 'LOC105371157', 'score': 550.77}, {'connected_gene': 'IL21R-AS1', 'score': 21.54}, {'connected_gene': 'GC16M027722', 'score': 0.34}, {'connected_gene': 'ENSG00000201371', 'score': 0.34}, {'connected_gene': 'KIAA0556', 'score': 0.08}]
chr16 GH16I027748 27748716 27749649 1.07 [{'connected_gene': 'LOC105371157', 'score': 550.77}, {'connected_gene': 'GC16M027762', 'score': 0.31}, {'connected_gene': 'KIAA0556', 'score': 0.08}]
chr16 GH16I027755 27755917 27756134 0.43 [{'connected_gene': 'LOC105371157', 'score': 0.44}, {'connected_gene': 'GC16M027762', 'score': 0.34}, {'connected_gene': 'KIAA0556', 'score': 0.08}]
chr16 GH16I027718 27718162 27719303 0.66 [{'connected_gene': 'LOC100128079', 'score': 550.77}, {'connected_gene': 'PIR62239', 'score': 550.77}, {'connected_gene': 'KIAA0556', 'score': 0.1}]
chr16 GH16I027719 27719694 27720221 0.31 [{'connected_gene': 'LOC100128079', 'score': 550.77}, {'connected_gene': 'GC16M027722', 'score': 0.77}, {'connected_gene': 'ENSG00000201371', 'score': 0.77}, {'connected_gene': 'KIAA0556', 'score': 0.1}]
chr16 GH16I027228 27228712 27247799 1.77 [{'connected_gene': 'ENSG00000259940', 'score': 9.26}, {'connected_gene': 'KDM8', 'score': 7.76}, {'connected_gene': 'NSMCE1', 'score': 6.6}, {'connected_gene': 'IL4R', 'score': 4.71}, {'connected_gene': 'IL21R', 'score': 1.91}, {'connected_gene': 'KIAA0556', 'score': 1.53}, {'connected_gene': 'FLJ21408', 'score': 0.31}]
chr16 GH16I027720 27720482 27723122 0.97 [{'connected_gene': 'GC16M027722', 'score': 550.77}, {'connected_gene': 'ENSG00000201371', 'score': 550.77}, {'connected_gene': 'IL21R-AS1', 'score': 23.13}, {'connected_gene': 'LOC100128079', 'score': 0.77}, {'connected_gene': 'KIAA0556', 'score': 0.09}]
chr16 GH16I027628 27627775 27628827 0.56 [{'connected_gene': 'ENSG00000261736', 'score': 0.39}, {'connected_gene': 'KIAA0556', 'score': 0.18}]
chr16 GH16I027638 27638960 27639109 0.38 [{'connected_gene': 'ENSG00000261736', 'score': 0.77}, {'connected_gene': 'GC16M027636', 'score': 0.25}, {'connected_gene': 'KIAA0556', 'score': 0.17}]
chr16 GH16I027609 27609382 27609410 0.27 [{'connected_gene': 'ENSG00000261736', 'score': 0.29}, {'connected_gene': 'KIAA0556', 'score': 0.22}]
chr16 GH16I027600 27600520 27600669 0.2 [{'connected_gene': 'ENSG00000261736', 'score': 0.26}, {'connected_gene': 'KIAA0556', 'score': 0.23}]
chr16 GH16I027639 27639880 27640049 0.57 [{'connected_gene': 'ENSG00000261736', 'score': 0.77}, {'connected_gene': 'GC16M027636', 'score': 0.25}, {'connected_gene': 'KIAA0556', 'score': 0.17}]
chr16 GH16I027629 27629180 27629242 0.2 [{'connected_gene': 'ENSG00000261736', 'score': 0.39}, {'connected_gene': 'KIAA0556', 'score': 0.18}]
chr16 GH16I027725 27725087 27725329 0.31 [{'connected_gene': 'GC16M027722', 'score': 0.77}, {'connected_gene': 'ENSG00000201371', 'score': 0.77}, {'connected_gene': 'LOC105371157', 'score': 0.34}, {'connected_gene': 'KIAA0556', 'score': 0.1}]
chr16 GH16I027729 27729600 27729749 0.66 [{'connected_gene': 'GC16M027722', 'score': 0.44}, {'connected_gene': 'ENSG00000201371', 'score': 0.44}, {'connected_gene': 'LOC105371157', 'score': 0.37}, {'connected_gene': 'KIAA0556', 'score': 0.1}]
chr16 GH16I027724 27724683 27724983 0.31 [{'connected_gene': 'GC16M027722', 'score': 0.77}, {'connected_gene': 'ENSG00000201371', 'score': 0.77}, {'connected_gene': 'LOC105371157', 'score': 0.34}, {'connected_gene': 'KIAA0556', 'score': 0.09}]
chr16 GH16I027726 27724271 27724576 0.31 [{'connected_gene': 'GC16M027722', 'score': 0.77}, {'connected_gene': 'ENSG00000201371', 'score': 0.77}, {'connected_gene': 'LOC105371157', 'score': 0.34}, {'connected_gene': 'KIAA0556', 'score': 0.09}]
chr16 GH16I027689 27689450 27690076 0.51 [{'connected_gene': 'ENSG00000273553', 'score': 0.77}, {'connected_gene': 'LOC100128079', 'score': 0.31}, {'connected_gene': 'PIR62239', 'score': 0.31}, {'connected_gene': 'KIAA0556', 'score': 0.12}]
chr16 GH16I027698 27698360 27698489 0.69 [{'connected_gene': 'ENSG00000273553', 'score': 0.39}, {'connected_gene': 'PIR62239', 'score': 0.37}, {'connected_gene': 'LOC100128079', 'score': 0.34}, {'connected_gene': 'KIAA0556', 'score': 0.11}]
chr16 GH16I027703 27703680 27703849 0.58 [{'connected_gene': 'PIR62239', 'score': 0.39}, {'connected_gene': 'LOC100128079', 'score': 0.37}, {'connected_gene': 'ENSG00000273553', 'score': 0.37}, {'connected_gene': 'KIAA0556', 'score': 0.1}]

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