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
ENST00000261520 [[60711807, 60715961], [60720627, 60720886], [60724132, 60724183], [60728341, 60728426], [60734614, 60734744], [60740168, 60740344], [60741046, 60742040], [60745801, 60745983], [60747201, 60747361], [60747524, 60747641], [60748855, 60748993], [60758792, 60758912], [60760259, 60760521], [60768261, 60768366], [60770135, 60770268], [60771201, 60771344]] [[60715832, 60715961], [60720627, 60720886], [60724132, 60724183], [60728341, 60728426], [60734614, 60734744], [60740168, 60740344], [60741046, 60742040], [60745801, 60745983], [60747201, 60747361], [60747524, 60747641], [60748855, 60748993], [60758792, 60758912], [60760259, 60760521], [60768261, 60768366], [60770135, 60770176]]
ENST00000439632 [[60711807, 60715961], [60720627, 60720886], [60724132, 60724183], [60728341, 60728426], [60734614, 60734744], [60740168, 60740344], [60741046, 60742040], [60745801, 60745983], [60747201, 60747361], [60747524, 60747641], [60748855, 60748993], [60758792, 60758912], [60760259, 60760361], [60768261, 60768366], [60770135, 60770268], [60771201, 60771344]] [[60715832, 60715961], [60720627, 60720886], [60724132, 60724183], [60728341, 60728426], [60734614, 60734744], [60740168, 60740344], [60741046, 60742040], [60745801, 60745983], [60747201, 60747361], [60747524, 60747641], [60748855, 60748993], [60758792, 60758909]]
ENST00000558181 [[60711811, 60715961], [60720627, 60720886], [60724132, 60724183], [60728341, 60728426], [60734614, 60734744], [60740168, 60740344], [60741046, 60742040], [60745801, 60745983], [60747201, 60747361], [60747524, 60747641], [60748855, 60748993], [60758792, 60758912], [60760259, 60760361], [60768261, 60768366], [60770135, 60770268], [60771201, 60771359]] [[60760285, 60760361], [60768261, 60768366], [60770135, 60770176]]
ENST00000558121 [[60713674, 60715961], [60720627, 60720886], [60724132, 60724183], [60728341, 60728426], [60734614, 60735270]] None
ENST00000561124 [[60715850, 60715961], [60720627, 60720886], [60724132, 60724183], [60728341, 60728426], [60732829, 60732867]] None
ENST00000561328 [[60730018, 60734744], [60741046, 60742040], [60745801, 60745982]] None
ENST00000561144 [[60739689, 60740344], [60741046, 60741150]] None
ENST00000561114 [[60743293, 60745983], [60747201, 60747361], [60747524, 60747641], [60748855, 60748993], [60758792, 60758912], [60760259, 60760521], [60768261, 60768366], [60770135, 60770268], [60771201, 60771272]] [[60745774, 60745983], [60747201, 60747361], [60747524, 60747641], [60748855, 60748993], [60758792, 60758912], [60760259, 60760521], [60768261, 60768366], [60770135, 60770176]]
ENST00000558512 [[60745910, 60745983], [60747201, 60747361], [60747524, 60747641], [60748855, 60748993], [60758792, 60758912], [60760259, 60760521], [60768261, 60768366], [60770135, 60770268], [60770766, 60771128]] [[60745910, 60745983], [60747201, 60747361], [60747524, 60747641], [60748855, 60748993], [60758792, 60758912], [60760259, 60760521], [60768261, 60768366], [60770135, 60770176]]
ENST00000558451 [[60746886, 60747361], [60747524, 60747641]] None
ENST00000560895 [[60747554, 60747641], [60748855, 60748993], [60768261, 60768366], [60770135, 60770268], [60771201, 60771309]] [[60748983, 60748993], [60768261, 60768366], [60770135, 60770176]]
ENST00000561446 [[60748864, 60748993], [60758792, 60758912], [60760259, 60760361], [60768261, 60768366], [60771201, 60771309]] [[60760285, 60760361], [60768261, 60768366], [60771201, 60771206]]
ENST00000560668 [[60748959, 60748993], [60758792, 60758912], [60760259, 60760361], [60768261, 60768366], [60770135, 60770268], [60771270, 60771331]] [[60760285, 60760361], [60768261, 60768366], [60770135, 60770176]]
ENST00000561087 [[60748963, 60748993], [60758792, 60758912], [60760259, 60760361], [60768261, 60768366], [60770766, 60770849], [60771201, 60771306]] None
ENST00000558654 [[60758871, 60758912], [60760259, 60760361], [60768261, 60768366], [60770135, 60770268], [60770766, 60770836], [60771201, 60771311]] None
ENST00000560072 [[60758885, 60758912], [60760259, 60760521], [60768261, 60768366], [60770135, 60770268], [60771270, 60771302]] [[60758885, 60758912], [60760259, 60760521], [60768261, 60768366], [60770135, 60770176]]
ENST00000560406 [[60760369, 60760521], [60768261, 60768366], [60770135, 60770268], [60770766, 60770859], [60771201, 60771302]] [[60760369, 60760521], [60768261, 60768366], [60770135, 60770176]]
ENST00000560520 [[60760385, 60760521], [60768261, 60768366], [60770135, 60770268], [60770766, 60770849], [60771201, 60771312]] [[60760385, 60760521], [60768261, 60768366], [60770135, 60770176]]
NM_024611 [[60711807, 60715961], [60720627, 60720886], [60724132, 60724183], [60728341, 60728426], [60734614, 60734744], [60740168, 60740344], [60741046, 60742040], [60745801, 60745983], [60747201, 60747361], [60747524, 60747641], [60748855, 60748993], [60758792, 60758912], [60760259, 60760521], [60768261, 60768366], [60770135, 60770268], [60771201, 60771359]] [[60715832, 60715961], [60720627, 60720886], [60724132, 60724183], [60728341, 60728426], [60734614, 60734744], [60740168, 60740344], [60741046, 60742040], [60745801, 60745983], [60747201, 60747361], [60747524, 60747641], [60748855, 60748993], [60758792, 60758912], [60760259, 60760521], [60768261, 60768366], [60770135, 60770176]]
NM_001018089 [[60711807, 60715961], [60720627, 60720886], [60724132, 60724183], [60728341, 60728426], [60734614, 60734744], [60740168, 60740344], [60741046, 60742040], [60745801, 60745983], [60747201, 60747361], [60747524, 60747641], [60748855, 60748993], [60758792, 60758912], [60760259, 60760361], [60768261, 60768366], [60770135, 60770268], [60771201, 60771359]] [[60715832, 60715961], [60720627, 60720886], [60724132, 60724183], [60728341, 60728426], [60734614, 60734744], [60740168, 60740344], [60741046, 60742040], [60745801, 60745983], [60747201, 60747361], [60747524, 60747641], [60748855, 60748993], [60758792, 60758909]]
NM_001276385 [[60743293, 60745983], [60747201, 60747361], [60747524, 60747641], [60748855, 60748993], [60758792, 60758912], [60760259, 60760521], [60768261, 60768366], [60770135, 60770268], [60771201, 60771359]] [[60745774, 60745983], [60747201, 60747361], [60747524, 60747641], [60748855, 60748993], [60758792, 60758912], [60760259, 60760521], [60768261, 60768366], [60770135, 60770176]]
Promoter
Chrom Start End Description
chr15 60771268 60771277 CAGE_peak_2_at_NARG2_5end
chr15 60771280 60771351 CAGE_peak_1_at_NARG2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I059586 59586937 59588218 0.77 [{'connected_gene': 'ICE2', 'score': 39.0}, {'connected_gene': 'SLTM', 'score': 23.72}, {'connected_gene': 'MINDY2', 'score': 21.06}, {'connected_gene': 'RPS3AP6', 'score': 20.16}, {'connected_gene': 'GC15M059584', 'score': 0.44}, {'connected_gene': 'GCNT3', 'score': 0.44}, {'connected_gene': 'GC15M059575', 'score': 0.39}]
chr15 GH15I061038 61038542 61038691 0.8 [{'connected_gene': 'ICE2', 'score': 38.02}, {'connected_gene': 'PIR44161', 'score': 0.39}, {'connected_gene': 'GC15M061038', 'score': 0.34}, {'connected_gene': 'GC15M060908', 'score': 0.13}, {'connected_gene': 'RORA', 'score': 0.08}]
chr15 GH15I060554 60554419 60555552 0.31 [{'connected_gene': 'ICE2', 'score': 4.82}, {'connected_gene': 'CYCSP38', 'score': 0.77}, {'connected_gene': 'PIR43643', 'score': 0.34}, {'connected_gene': 'RORA-AS1', 'score': 0.18}, {'connected_gene': 'RORA', 'score': 0.03}]
chr15 GH15I060535 60535809 60537744 0.38 [{'connected_gene': 'ICE2', 'score': 4.97}, {'connected_gene': 'PIR43643', 'score': 0.77}, {'connected_gene': 'ENSG00000259274', 'score': 0.44}, {'connected_gene': 'CYCSP38', 'score': 0.34}, {'connected_gene': 'RORA-AS1', 'score': 0.22}, {'connected_gene': 'RORA', 'score': 0.03}]
chr15 GH15I059996 59996634 59997773 1.02 [{'connected_gene': 'ICE2', 'score': 12.69}, {'connected_gene': 'RPS3AP6', 'score': 11.33}, {'connected_gene': 'FOXB1', 'score': 0.44}, {'connected_gene': 'NMNAT1P5', 'score': 0.29}, {'connected_gene': 'GC15M059893', 'score': 0.23}]
chr15 GH15I060020 60020842 60020971 0.38 [{'connected_gene': 'ICE2', 'score': 20.22}, {'connected_gene': 'RPS3AP6', 'score': 13.28}, {'connected_gene': 'LOC105370838', 'score': 0.44}, {'connected_gene': 'FOXB1', 'score': 0.37}, {'connected_gene': 'GC15M059893', 'score': 0.31}]
chr15 GH15I060476 60476303 60480551 2.09 [{'connected_gene': 'ICE2', 'score': 566.94}, {'connected_gene': 'RORA-AS1', 'score': 550.77}, {'connected_gene': 'BNIP2', 'score': 14.78}, {'connected_gene': 'ANXA2', 'score': 14.18}, {'connected_gene': 'RPS3AP6', 'score': 11.17}, {'connected_gene': 'PIGHP1', 'score': 9.88}, {'connected_gene': 'GC15M060398', 'score': 0.21}]
chr15 GH15I060500 60500484 60501926 0.2 [{'connected_gene': 'ICE2', 'score': 12.74}, {'connected_gene': 'RORA-AS1', 'score': 12.74}, {'connected_gene': 'PIR42657', 'score': 0.44}, {'connected_gene': 'GC15P060512', 'score': 0.39}, {'connected_gene': 'RORA', 'score': 0.03}]
chr15 GH15I060504 60504536 60506628 0.38 [{'connected_gene': 'ICE2', 'score': 7.54}, {'connected_gene': 'GC15P060512', 'score': 0.44}, {'connected_gene': 'PIR42657', 'score': 0.44}, {'connected_gene': 'RORA-AS1', 'score': 0.31}, {'connected_gene': 'RORA', 'score': 0.03}]
chr15 GH15I060521 60521390 60522776 0.31 [{'connected_gene': 'ICE2', 'score': 5.24}, {'connected_gene': 'GC15P060525', 'score': 0.77}, {'connected_gene': 'GC15P060512', 'score': 0.44}, {'connected_gene': 'RORA-AS1', 'score': 0.26}, {'connected_gene': 'RORA', 'score': 0.03}]
chr15 GH15I060420 60420133 60425096 1.18 [{'connected_gene': 'ICE2', 'score': 6.85}, {'connected_gene': 'RORA-AS1', 'score': 6.24}, {'connected_gene': 'GC15M060398', 'score': 0.77}]
chr15 GH15I060412 60412950 60414718 1.04 [{'connected_gene': 'ICE2', 'score': 7.74}, {'connected_gene': 'GC15M060398', 'score': 0.77}, {'connected_gene': 'ENSG00000273721', 'score': 0.77}]
chr15 GH15I060465 60465603 60465770 0.39 [{'connected_gene': 'ICE2', 'score': 0.39}, {'connected_gene': 'GC15M060398', 'score': 0.25}]
chr15 GH15I060458 60458601 60458800 0.2 [{'connected_gene': 'ICE2', 'score': 0.34}, {'connected_gene': 'GC15M060398', 'score': 0.26}]
chr15 GH15I060538 60538680 60554161 1.29 [{'connected_gene': 'RORA', 'score': 23.5}, {'connected_gene': 'ICE2', 'score': 5.69}, {'connected_gene': 'CYCSP38', 'score': 0.39}, {'connected_gene': 'PIR43643', 'score': 0.39}, {'connected_gene': 'ENSG00000259274', 'score': 0.37}, {'connected_gene': 'RORA-AS1', 'score': 0.2}]
chr15 GH15I060388 60388284 60403680 2.52 [{'connected_gene': 'ANXA2', 'score': 550.44}, {'connected_gene': 'ICE2', 'score': 37.0}, {'connected_gene': 'RPS3AP6', 'score': 21.27}, {'connected_gene': 'RPL36AP44', 'score': 9.43}, {'connected_gene': 'RORA-AS1', 'score': 4.97}, {'connected_gene': 'GC15P060391', 'score': 0.44}, {'connected_gene': 'GC15M060398', 'score': 0.34}]
chr15 GH15I060523 60523142 60523291 0.58 [{'connected_gene': 'ANXA2', 'score': 10.77}, {'connected_gene': 'ICE2', 'score': 5.06}, {'connected_gene': 'GC15P060525', 'score': 0.77}, {'connected_gene': 'GC15P060512', 'score': 0.39}, {'connected_gene': 'RORA-AS1', 'score': 0.26}, {'connected_gene': 'RORA', 'score': 0.03}]
chr15 GH15I060358 60358556 60365772 1.2 [{'connected_gene': 'ANXA2', 'score': 17.72}, {'connected_gene': 'ICE2', 'score': 12.0}, {'connected_gene': 'RORA-AS1', 'score': 12.0}, {'connected_gene': 'PIR58768', 'score': 0.37}, {'connected_gene': 'GC15M060303', 'score': 0.37}]
chr15 GH15I060440 60440822 60444116 0.43 [{'connected_gene': 'ANXA2', 'score': 11.41}, {'connected_gene': 'ICE2', 'score': 7.43}, {'connected_gene': 'GC15M060398', 'score': 0.34}]
chr15 GH15I060425 60425349 60426408 0.31 [{'connected_gene': 'ANXA2', 'score': 12.65}, {'connected_gene': 'ICE2', 'score': 6.57}, {'connected_gene': 'GC15M060398', 'score': 0.44}]
chr15 GH15I060448 60448745 60450079 0.38 [{'connected_gene': 'ANXA2', 'score': 11.99}, {'connected_gene': 'ICE2', 'score': 7.48}, {'connected_gene': 'GC15M060398', 'score': 0.29}]
chr15 GH15I059656 59656011 59658229 2.01 [{'connected_gene': 'GTF2A2', 'score': 573.66}, {'connected_gene': 'SLTM', 'score': 14.35}, {'connected_gene': 'ICE2', 'score': 12.68}, {'connected_gene': 'RPS3AP6', 'score': 11.4}, {'connected_gene': 'GC15M059646', 'score': 0.77}, {'connected_gene': 'ENSG00000227161', 'score': 0.37}]
chr15 GH15I060760 60760581 60762134 0.56 [{'connected_gene': 'LOC105370844', 'score': 550.77}, {'connected_gene': 'ICE2', 'score': 13.68}, {'connected_gene': 'RNA5SP397', 'score': 0.34}, {'connected_gene': 'RORA', 'score': 0.04}]
chr15 GH15I060527 60527889 60529266 0.69 [{'connected_gene': 'ENSG00000259274', 'score': 550.77}, {'connected_gene': 'ICE2', 'score': 5.81}, {'connected_gene': 'GC15P060525', 'score': 0.77}, {'connected_gene': 'GC15P060512', 'score': 0.37}, {'connected_gene': 'RORA-AS1', 'score': 0.25}, {'connected_gene': 'RORA', 'score': 0.03}]
chr15 GH15I060406 60406433 60410108 1.44 [{'connected_gene': 'ENSG00000273721', 'score': 550.77}, {'connected_gene': 'ICE2', 'score': 7.39}, {'connected_gene': 'GC15P060405', 'score': 0.77}, {'connected_gene': 'GC15M060398', 'score': 0.44}]
chr15 GH15I060426 60426704 60427911 0.83 [{'connected_gene': 'GC15M060398', 'score': 0.44}, {'connected_gene': 'ICE2', 'score': 0.23}]