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
ENST00000422222 [[56591188, 56591281], [56592873, 56592938], [56593596, 56593622], [56597711, 56598153], [56600621, 56600787], [56600977, 56601081], [56605208, 56605330], [56627518, 56627769], [56627971, 56628056], [56647616, 56647778], [56649155, 56649300], [56649949, 56650081], [56651139, 56651329]] [[56591270, 56591281], [56592873, 56592938], [56593596, 56593622], [56597711, 56598153], [56600621, 56600787], [56600977, 56601081], [56605208, 56605330], [56627518, 56627769], [56627971, 56628056], [56647616, 56647778], [56649155, 56649300], [56649949, 56650081], [56651139, 56651329]]
ENST00000394672 [[56591200, 56591281], [56592873, 56592938], [56593596, 56593622], [56597711, 56598153], [56600621, 56600787], [56600977, 56601081], [56605208, 56605330], [56626997, 56627129], [56627518, 56627769], [56627971, 56628056], [56647616, 56647778], [56649155, 56649300], [56649949, 56650081], [56651139, 56651633], [56652199, 56652240], [56653298, 56653555], [56653804, 56653929], [56655559, 56655825]] [[56591270, 56591281], [56592873, 56592938], [56593596, 56593622], [56597711, 56598153], [56600621, 56600787], [56600977, 56601081], [56605208, 56605330], [56626997, 56627129], [56627518, 56627769], [56627971, 56628056], [56647616, 56647778], [56649155, 56649300], [56649949, 56650081], [56651139, 56651633], [56652199, 56652240], [56653298, 56653555], [56653804, 56653929], [56655559, 56655646]]
ENST00000326595 [[56591215, 56591262], [56592873, 56592938], [56593596, 56593622], [56597711, 56598153], [56600621, 56600787], [56600977, 56601081], [56605208, 56605330], [56626997, 56627129], [56627518, 56627769], [56627971, 56628056], [56647616, 56647778], [56649155, 56649300], [56649949, 56650081], [56651139, 56651633], [56652199, 56652240], [56653298, 56653555], [56653804, 56653929], [56655559, 56655790]] [[56597711, 56598153], [56600621, 56600787], [56600977, 56601081], [56605208, 56605330], [56626997, 56627129], [56627518, 56627769], [56627971, 56628056], [56647616, 56647778], [56649155, 56649300], [56649949, 56650081], [56651139, 56651633], [56652199, 56652240], [56653298, 56653555], [56653804, 56653929], [56655559, 56655646]]
ENST00000471681 [[56591238, 56591262], [56592873, 56592938], [56593596, 56593622], [56597711, 56598153], [56600621, 56600787], [56600977, 56601081], [56605208, 56605330], [56606364, 56606456], [56626997, 56627129], [56627518, 56627769], [56627971, 56628056], [56647638, 56647778], [56649155, 56649300], [56649949, 56650081], [56651139, 56651633], [56652199, 56652240], [56653298, 56653555], [56653804, 56653929], [56655559, 56655836]] [[56597711, 56598153], [56600621, 56600787], [56600977, 56601081], [56605208, 56605330], [56606364, 56606394]]
ENST00000341455 [[56591246, 56591281], [56592873, 56592938], [56593596, 56593622], [56597711, 56598153], [56600621, 56600768], [56600977, 56601081], [56605208, 56605330], [56626997, 56627129], [56627518, 56627769], [56627971, 56628056], [56647616, 56647778], [56649155, 56649300], [56649949, 56650081], [56651139, 56651633], [56652199, 56652240], [56653298, 56653555], [56653804, 56653929], [56655559, 56655836]] [[56591270, 56591281], [56592873, 56592938], [56593596, 56593622], [56597711, 56598153], [56600621, 56600768], [56600977, 56600979]]
ENST00000436465 [[56592779, 56592790], [56592873, 56592938], [56593596, 56593622], [56597711, 56598153], [56600621, 56600787], [56600977, 56601081], [56605208, 56605330], [56626997, 56627129], [56627518, 56627769], [56627971, 56628056], [56647616, 56647778], [56649155, 56649300], [56649949, 56650081], [56651139, 56651633], [56652199, 56652240], [56653298, 56653555], [56653804, 56653929], [56655559, 56655846]] [[56592779, 56592790], [56592873, 56592938], [56593596, 56593622], [56597711, 56598153], [56600621, 56600787], [56600977, 56601081], [56605208, 56605330], [56626997, 56627129], [56627518, 56627769], [56627971, 56628056], [56647616, 56647778], [56649155, 56649300], [56649949, 56650081], [56651139, 56651633], [56652199, 56652240], [56653298, 56653555], [56653804, 56653929], [56655559, 56655646]]
ENST00000484623 [[56592872, 56592938], [56593596, 56593622], [56600977, 56601081], [56626997, 56627129], [56627518, 56627769], [56627971, 56628056], [56647616, 56647778], [56649155, 56649181]] None
ENST00000494672 [[56600810, 56601081], [56605208, 56605330], [56606364, 56606456], [56626997, 56627089]] None
ENST00000439445 [[56591190, 56591281], [56592873, 56592938], [56593596, 56593622], [56594889, 56595040], [56597711, 56597853], [56597933, 56598167]] [[56591270, 56591281], [56592873, 56592938], [56593596, 56593622], [56594889, 56594970]]
ENST00000460838 [[56591190, 56591281], [56592873, 56592938], [56597711, 56598153], [56600621, 56600767]] None
ENST00000459746 [[56591218, 56591281], [56592873, 56592938], [56593596, 56593622], [56597679, 56598153]] None
ENST00000472582 [[56591230, 56591281], [56592873, 56592938], [56593596, 56593622], [56597711, 56598153], [56599161, 56599232], [56600621, 56600734]] None
ENST00000434467 [[56591237, 56591281], [56592873, 56592938], [56593596, 56593622], [56594889, 56595040], [56597711, 56598153], [56600621, 56600768], [56600977, 56601081], [56603340, 56604774]] [[56591270, 56591281], [56592873, 56592938], [56593596, 56593622], [56594889, 56594970]]
ENST00000422788 [[56591246, 56591281], [56592873, 56592938], [56593596, 56593622], [56595284, 56595406], [56597711, 56598153], [56599161, 56599233]] [[56591270, 56591281], [56592873, 56592938], [56593596, 56593622], [56595284, 56595299]]
ENST00000442522 [[56591255, 56591281], [56592873, 56592938], [56593596, 56593622], [56597711, 56598153], [56600621, 56600787], [56600977, 56601081], [56603340, 56604699]] None
ENST00000469966 [[56591734, 56591985], [56592873, 56592938], [56597711, 56598184]] None
ENST00000538560 [[56592779, 56592790], [56592873, 56592938], [56593596, 56593622], [56597711, 56598153], [56600621, 56600787], [56600977, 56601081], [56603340, 56604774]] [[56592779, 56592790], [56592873, 56592938], [56593596, 56593622], [56597711, 56598153], [56600621, 56600787], [56600977, 56601081], [56603340, 56603390]]
ENST00000487739 [[56592882, 56592938], [56593596, 56593622], [56594889, 56595250]] None
ENST00000473322 [[56597543, 56598153], [56599161, 56599205]] None
ENST00000482673 [[56600688, 56600787], [56600977, 56601081], [56605208, 56605330], [56606364, 56606938]] None
ENST00000484441 [[56600978, 56601081], [56605208, 56605407]] None
ENST00000468108 [[56627739, 56627769], [56627971, 56628056], [56647616, 56647778], [56649155, 56649445]] None
ENST00000480884 [[56649896, 56651633], [56652199, 56652240], [56653298, 56653555], [56653804, 56653929], [56655559, 56655846]] None
ENST00000476142 [[56651128, 56653555], [56653804, 56653929], [56655559, 56655790]] None
NM_001012506 [[56591183, 56591262], [56592873, 56592938], [56593596, 56593622], [56597711, 56598153], [56600621, 56600787], [56600977, 56601081], [56605208, 56605330], [56626997, 56627129], [56627518, 56627769], [56627971, 56628056], [56647616, 56647778], [56649155, 56649300], [56649949, 56650081], [56651139, 56651633], [56652199, 56652240], [56653298, 56653555], [56653804, 56653929], [56655559, 56655864]] [[56597711, 56598153], [56600621, 56600787], [56600977, 56601081], [56605208, 56605330], [56626997, 56627129], [56627518, 56627769], [56627971, 56628056], [56647616, 56647778], [56649155, 56649300], [56649949, 56650081], [56651139, 56651633], [56652199, 56652240], [56653298, 56653555], [56653804, 56653929], [56655559, 56655646]]
NR_024460 [[56591183, 56591281], [56592873, 56592938], [56593596, 56593622], [56597711, 56598153], [56600621, 56600768], [56600977, 56601081], [56605208, 56605330], [56626997, 56627129], [56627518, 56627769], [56627971, 56628056], [56647616, 56647778], [56649155, 56649300], [56649949, 56650081], [56651139, 56651633], [56652199, 56652240], [56653298, 56653555], [56653804, 56653929], [56655559, 56655864]] None
NM_001141947 [[56591183, 56591281], [56592873, 56592938], [56593596, 56593622], [56597711, 56598153], [56600621, 56600787], [56600977, 56601081], [56605208, 56605330], [56626997, 56627129], [56627518, 56627769], [56627971, 56628056], [56647616, 56647778], [56649155, 56649300], [56649949, 56650081], [56651139, 56651633], [56652199, 56652240], [56653298, 56653555], [56653804, 56653929], [56655559, 56655864]] [[56591270, 56591281], [56592873, 56592938], [56593596, 56593622], [56597711, 56598153], [56600621, 56600787], [56600977, 56601081], [56605208, 56605330], [56626997, 56627129], [56627518, 56627769], [56627971, 56628056], [56647616, 56647778], [56649155, 56649300], [56649949, 56650081], [56651139, 56651633], [56652199, 56652240], [56653298, 56653555], [56653804, 56653929], [56655559, 56655646]]
Promoter
Chrom Start End Description
chr3 56591184 56591255 CAGE_peak_1_at_CCDC66_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I056757 56757987 56760315 1.28 [{'connected_gene': 'ARHGEF3', 'score': 10.0}, {'connected_gene': 'CCDC66', 'score': 8.41}, {'connected_gene': 'FAM208A', 'score': 4.32}, {'connected_gene': 'GC03P056724', 'score': 0.29}, {'connected_gene': 'GC03M056906', 'score': 0.11}]
chr3 GH03I056731 56731761 56733801 0.58 [{'connected_gene': 'ARHGEF3', 'score': 15.49}, {'connected_gene': 'CCDC66', 'score': 8.71}, {'connected_gene': 'GC03P056724', 'score': 0.44}, {'connected_gene': 'GC03M056906', 'score': 0.09}]
chr3 GH03I056794 56794539 56802862 2.4 [{'connected_gene': 'ARHGEF3', 'score': 566.99}, {'connected_gene': 'CCDC66', 'score': 6.59}, {'connected_gene': 'GC03P056724', 'score': 0.19}, {'connected_gene': 'GC03M056906', 'score': 0.14}]
chr3 GH03I056752 56752444 56757484 1.41 [{'connected_gene': 'ARHGEF3', 'score': 12.57}, {'connected_gene': 'CCDC66', 'score': 7.73}, {'connected_gene': 'GC03P056724', 'score': 0.29}, {'connected_gene': 'GC03M056906', 'score': 0.1}]
chr3 GH03I056740 56740179 56741190 0.31 [{'connected_gene': 'ARHGEF3', 'score': 9.82}, {'connected_gene': 'CCDC66', 'score': 9.23}, {'connected_gene': 'GC03P056724', 'score': 0.37}, {'connected_gene': 'GC03M056906', 'score': 0.1}]
chr3 GH03I056761 56761647 56763257 0.38 [{'connected_gene': 'ARHGEF3', 'score': 10.01}, {'connected_gene': 'CCDC66', 'score': 5.07}, {'connected_gene': 'GC03P056724', 'score': 0.28}, {'connected_gene': 'GC03M056906', 'score': 0.11}]
chr3 GH03I056734 56734058 56736573 0.81 [{'connected_gene': 'CCDC66', 'score': 10.91}, {'connected_gene': 'ARHGEF3', 'score': 9.82}, {'connected_gene': 'GC03P056724', 'score': 0.39}, {'connected_gene': 'GC03M056906', 'score': 0.09}]
chr3 GH03I056744 56744563 56745845 0.2 [{'connected_gene': 'CCDC66', 'score': 7.96}, {'connected_gene': 'GC03P056724', 'score': 0.34}, {'connected_gene': 'GC03M056906', 'score': 0.1}, {'connected_gene': 'ARHGEF3', 'score': 0.06}]
chr3 GH03I056748 56748670 56749356 0.76 [{'connected_gene': 'CCDC66', 'score': 7.7}, {'connected_gene': 'GC03P056724', 'score': 0.34}, {'connected_gene': 'GC03M056906', 'score': 0.1}, {'connected_gene': 'ARHGEF3', 'score': 0.06}]
chr3 GH03I056770 56770973 56772367 0.2 [{'connected_gene': 'CCDC66', 'score': 7.19}, {'connected_gene': 'GC03P056724', 'score': 0.25}, {'connected_gene': 'GC03M056906', 'score': 0.12}, {'connected_gene': 'ARHGEF3', 'score': 0.06}]
chr3 GH03I056742 56742731 56744557 0.31 [{'connected_gene': 'CCDC66', 'score': 9.22}, {'connected_gene': 'GC03P056724', 'score': 0.37}, {'connected_gene': 'GC03M056906', 'score': 0.1}, {'connected_gene': 'ARHGEF3', 'score': 0.05}]
chr3 GH03I056778 56778709 56779284 0.2 [{'connected_gene': 'CCDC66', 'score': 6.55}, {'connected_gene': 'GC03P056724', 'score': 0.23}, {'connected_gene': 'GC03M056906', 'score': 0.13}, {'connected_gene': 'ARHGEF3', 'score': 0.06}]
chr3 GH03I057158 57158551 57162597 1.1 [{'connected_gene': 'CCDC66', 'score': 15.47}, {'connected_gene': 'FAM208A', 'score': 11.79}, {'connected_gene': 'IL17RD', 'score': 11.42}, {'connected_gene': 'APPL1', 'score': 10.61}, {'connected_gene': 'HESX1', 'score': 10.61}, {'connected_gene': 'ASB14', 'score': 10.26}, {'connected_gene': 'DNAH12', 'score': 10.19}, {'connected_gene': 'SLMAP', 'score': 4.02}, {'connected_gene': 'LOC105377101', 'score': 0.44}]
chr3 GH03I056779 56779478 56792871 1.68 [{'connected_gene': 'CCDC66', 'score': 22.13}, {'connected_gene': 'FAM208A', 'score': 12.28}, {'connected_gene': 'ARHGEF3', 'score': 8.64}, {'connected_gene': 'GC03P056724', 'score': 0.21}, {'connected_gene': 'GC03M056906', 'score': 0.13}]
chr3 GH03I056750 56750768 56752058 0.2 [{'connected_gene': 'CCDC66', 'score': 8.46}, {'connected_gene': 'FAM208A', 'score': 5.11}, {'connected_gene': 'GC03P056724', 'score': 0.31}, {'connected_gene': 'GC03M056906', 'score': 0.1}, {'connected_gene': 'ARHGEF3', 'score': 0.05}]
chr3 GH03I056921 56921305 56927423 1.38 [{'connected_gene': 'CCDC66', 'score': 19.54}, {'connected_gene': 'FAM208A', 'score': 16.8}, {'connected_gene': 'DENND6A', 'score': 15.75}, {'connected_gene': 'APPL1', 'score': 12.27}, {'connected_gene': 'ARHGEF3', 'score': 12.2}, {'connected_gene': 'PDE12', 'score': 10.88}, {'connected_gene': 'GC03M056906', 'score': 0.37}, {'connected_gene': 'ARHGEF3-AS1', 'score': 0.37}]
chr3 GH03I056976 56976253 56978134 0.99 [{'connected_gene': 'CCDC66', 'score': 19.56}, {'connected_gene': 'FAM208A', 'score': 19.54}, {'connected_gene': 'DENND6A', 'score': 10.16}, {'connected_gene': 'ARHGEF3-AS1', 'score': 0.28}, {'connected_gene': 'SPATA12', 'score': 0.18}, {'connected_gene': 'ARHGEF3', 'score': 0.15}]
chr3 GH03I056691 56691077 56691768 0.65 [{'connected_gene': 'CCDC66', 'score': 14.62}, {'connected_gene': 'FAM208A', 'score': 0.44}, {'connected_gene': 'GC03M056697', 'score': 0.44}]
chr3 GH03I056631 56631318 56631514 0.33 [{'connected_gene': 'CCDC66', 'score': 16.84}, {'connected_gene': 'FAM208A', 'score': 1.99}]
chr3 GH03I056628 56628740 56629974 0.38 [{'connected_gene': 'CCDC66', 'score': 19.6}, {'connected_gene': 'FAM208A', 'score': 0.23}]
chr3 GH03I056590 56590001 56593081 0.4 [{'connected_gene': 'CCDC66', 'score': 20.28}, {'connected_gene': 'FAM208A', 'score': 19.18}, {'connected_gene': 'GC03P056532', 'score': 0.22}]
chr3 GH03I056556 56556201 56558587 1.96 [{'connected_gene': 'CCDC66', 'score': 596.74}, {'connected_gene': 'FAM208A', 'score': 17.23}, {'connected_gene': 'GC03P056532', 'score': 0.31}]
chr3 GH03I056702 56702401 56703000 0.82 [{'connected_gene': 'CCDC66', 'score': 10.19}, {'connected_gene': 'GC03M056697', 'score': 0.77}, {'connected_gene': 'GC03M056712', 'score': 0.39}]
chr3 GH03I056995 56995553 56995682 0.69 [{'connected_gene': 'APPL1', 'score': 12.39}, {'connected_gene': 'SPATA12', 'score': 12.26}, {'connected_gene': 'PDE12', 'score': 11.83}, {'connected_gene': 'ARHGEF3', 'score': 11.63}, {'connected_gene': 'CCDC66', 'score': 10.08}, {'connected_gene': 'ARHGEF3-AS1', 'score': 0.22}]
chr3 GH03I056467 56467000 56468801 1.79 [{'connected_gene': 'ERC2', 'score': 550.77}, {'connected_gene': 'FAM208A', 'score': 22.43}, {'connected_gene': 'CCDC66', 'score': 15.72}, {'connected_gene': 'LOC105377099', 'score': 0.29}]
chr3 GH03I056692 56692601 56696116 0.86 [{'connected_gene': 'FAM208A', 'score': 19.4}, {'connected_gene': 'CCDC66', 'score': 17.55}, {'connected_gene': 'GC03M056697', 'score': 0.44}]
chr3 GH03I056680 56680840 56683891 2.03 [{'connected_gene': 'FAM208A', 'score': 590.48}, {'connected_gene': 'CCDC66', 'score': 47.64}]
chr3 GH03I057016 57016649 57017924 1.42 [{'connected_gene': 'FLNB', 'score': 13.06}, {'connected_gene': 'APPL1', 'score': 12.4}, {'connected_gene': 'PDE12', 'score': 11.84}, {'connected_gene': 'SPATA12', 'score': 11.62}, {'connected_gene': 'ARHGEF3', 'score': 11.15}, {'connected_gene': 'CCDC66', 'score': 10.08}, {'connected_gene': 'ARHGEF3-AS1', 'score': 0.18}]
chr3 GH03I057555 57555074 57558445 2.11 [{'connected_gene': 'PDE12', 'score': 561.62}, {'connected_gene': 'GC03M057554', 'score': 550.77}, {'connected_gene': 'DENND6A', 'score': 25.93}, {'connected_gene': 'APPL1', 'score': 22.1}, {'connected_gene': 'CCDC66', 'score': 16.81}, {'connected_gene': 'FAM208A', 'score': 16.28}, {'connected_gene': 'FLNB-AS1', 'score': 14.35}, {'connected_gene': 'FLNB', 'score': 13.57}, {'connected_gene': 'DENND6A-DT', 'score': 10.21}, {'connected_gene': 'HESX1', 'score': 9.88}, {'connected_gene': 'ARF4', 'score': 9.16}, {'connected_gene': 'ENSG00000272202', 'score': 4.59}, {'connected_gene': 'GC03P057599', 'score': 0.26}]
chr3 GH03I056724 56724637 56727220 0.87 [{'connected_gene': 'GC03P056724', 'score': 550.77}, {'connected_gene': 'CCDC66', 'score': 12.85}, {'connected_gene': 'ARHGEF3', 'score': 9.85}, {'connected_gene': 'GC03M056906', 'score': 0.09}]

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