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
ENST00000334304 [[22389006, 22390570], [22390710, 22390806], [22394167, 22394313], [22403053, 22403177], [22404297, 22404422], [22414804, 22415013], [22415223, 22415437], [22422508, 22422712], [22425813, 22425975], [22436933, 22437089], [22438062, 22438264], [22439878, 22440043], [22444272, 22444486], [22446595, 22446756], [22449062, 22449134], [22456488, 22456560], [22463359, 22463431], [22475394, 22475466], [22517150, 22517677]] [[22389327, 22390570], [22390710, 22390806], [22394167, 22394313], [22403053, 22403177], [22404297, 22404422], [22414804, 22415013], [22415223, 22415437], [22422508, 22422712], [22425813, 22425975], [22436933, 22437089], [22438062, 22438264], [22439878, 22440043], [22444272, 22444486], [22446595, 22446756], [22449062, 22449134], [22456488, 22456560], [22463359, 22463431], [22475394, 22475466], [22517150, 22517407]]
ENST00000282943 [[22389330, 22390570], [22390710, 22390806], [22394167, 22394313], [22403053, 22403177], [22404297, 22404422], [22414804, 22415013], [22415223, 22415383], [22422508, 22422712], [22425813, 22425975], [22436933, 22437089], [22438062, 22438264], [22439878, 22440043], [22444272, 22444486], [22446595, 22446756], [22449062, 22449134], [22456488, 22456560], [22457431, 22457457]] None
ENST00000504617 [[22394167, 22394313], [22414804, 22414938]] None
ENST00000511051 [[22346693, 22346968], [22348355, 22348446], [22390710, 22390806], [22394167, 22394313], [22403053, 22403127]] [[22348445, 22348446], [22390710, 22390806], [22394167, 22394175]]
ENST00000499527 [[22389022, 22390570], [22390710, 22390806], [22394167, 22396491]] None
ENST00000506155 [[22414828, 22415013], [22415223, 22415709]] None
ENST00000508133 [[22415816, 22416229], [22422508, 22422712], [22425813, 22425975], [22436933, 22437089], [22438062, 22438264], [22439878, 22440043], [22444272, 22444486], [22444702, 22444758]] [[22416214, 22416229], [22422508, 22422712], [22425813, 22425975], [22436933, 22437089], [22438062, 22438264], [22439878, 22440043], [22444272, 22444486], [22444702, 22444730]]
ENST00000502482 [[22421660, 22422712], [22425813, 22425975], [22436933, 22437089], [22438062, 22438264], [22439878, 22440043], [22444272, 22444486], [22446595, 22446756], [22449062, 22449134], [22456488, 22456560], [22463359, 22463431], [22475394, 22475466], [22517150, 22517620]] [[22422466, 22422712], [22425813, 22425975], [22436933, 22437089], [22438062, 22438264], [22439878, 22440043], [22444272, 22444486], [22446595, 22446756], [22449062, 22449134], [22456488, 22456560], [22463359, 22463431], [22475394, 22475466], [22517150, 22517407]]
ENST00000514129 [[22439880, 22440043], [22444272, 22444486], [22446663, 22446756], [22449062, 22449134], [22456488, 22456560], [22463359, 22463431], [22475394, 22475441]] [[22439880, 22440043], [22444272, 22444400]]
ENST00000506133 [[22444272, 22444486], [22446595, 22446756], [22449062, 22449134], [22463359, 22463431], [22475394, 22475429]] None
ENST00000513385 [[22446622, 22446756], [22449062, 22449134], [22456488, 22456560], [22463359, 22463431], [22475394, 22475466], [22516087, 22516203]] None
ENST00000514749 [[22449062, 22449134], [22456488, 22456560], [22463359, 22463431], [22475394, 22475466], [22479246, 22479299], [22479715, 22479859]] None
ENST00000506346 [[22474642, 22474854], [22475394, 22475466], [22517150, 22517319]] None
NM_145290 [[22388996, 22390570], [22390710, 22390806], [22394167, 22394313], [22403053, 22403177], [22404297, 22404422], [22414804, 22415013], [22415223, 22415437], [22422508, 22422712], [22425813, 22425975], [22436933, 22437089], [22438062, 22438264], [22439878, 22440043], [22444272, 22444486], [22446595, 22446756], [22449062, 22449134], [22456488, 22456560], [22463359, 22463431], [22475394, 22475466], [22517150, 22517677]] [[22389327, 22390570], [22390710, 22390806], [22394167, 22394313], [22403053, 22403177], [22404297, 22404422], [22414804, 22415013], [22415223, 22415437], [22422508, 22422712], [22425813, 22425975], [22436933, 22437089], [22438062, 22438264], [22439878, 22440043], [22444272, 22444486], [22446595, 22446756], [22449062, 22449134], [22456488, 22456560], [22463359, 22463431], [22475394, 22475466], [22517150, 22517407]]
Promoter
Chrom Start End Description
chr4 22444733 22444767 CAGE_peak_4_at_GPR125_5end
chr4 22517512 22517537 CAGE_peak_5_at_GPR125_5end
chr4 22517551 22517593 CAGE_peak_2_at_GPR125_5end
chr4 22517624 22517712 CAGE_peak_1_at_GPR125_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I022674 22674796 22674811 0.24 [{'connected_gene': 'ADGRA3', 'score': 10.48}, {'connected_gene': 'GBA3', 'score': 0.37}, {'connected_gene': 'LOC105374520', 'score': 0.28}]
chr4 GH04I022668 22668339 22669174 0.58 [{'connected_gene': 'ADGRA3', 'score': 15.91}, {'connected_gene': 'GBA3', 'score': 0.34}, {'connected_gene': 'LOC105374520', 'score': 0.29}]
chr4 GH04I022667 22667479 22667715 0.22 [{'connected_gene': 'ADGRA3', 'score': 10.89}, {'connected_gene': 'GBA3', 'score': 0.31}, {'connected_gene': 'LOC105374520', 'score': 0.29}]
chr4 GH04I022685 22685824 22686907 0.31 [{'connected_gene': 'ADGRA3', 'score': 11.0}, {'connected_gene': 'GBA3', 'score': 10.53}, {'connected_gene': 'LOC105374520', 'score': 0.23}]
chr4 GH04I023422 23422281 23424279 0.31 [{'connected_gene': 'ADGRA3', 'score': 4.8}, {'connected_gene': 'LOC105374523', 'score': 0.34}, {'connected_gene': 'GC04M023482', 'score': 0.17}]
chr4 GH04I022661 22661462 22661822 0.26 [{'connected_gene': 'ADGRA3', 'score': 10.01}, {'connected_gene': 'LOC105374520', 'score': 0.31}, {'connected_gene': 'GC04P022629', 'score': 0.29}, {'connected_gene': 'GBA3', 'score': 0.29}]
chr4 GH04I022556 22556652 22557153 0.2 [{'connected_gene': 'ADGRA3', 'score': 11.75}, {'connected_gene': 'RPS27P13', 'score': 0.28}]
chr4 GH04I022532 22531338 22531487 0.2 [{'connected_gene': 'ADGRA3', 'score': 6.17}, {'connected_gene': 'RPS27P13', 'score': 0.21}]
chr4 GH04I022531 22531663 22531902 0.2 [{'connected_gene': 'ADGRA3', 'score': 5.31}, {'connected_gene': 'RPS27P13', 'score': 0.21}]
chr4 GH04I022471 22471062 22476399 1.17 [{'connected_gene': 'ADGRA3', 'score': 18.44}, {'connected_gene': 'PIR53421', 'score': 0.29}, {'connected_gene': 'GC04P022366', 'score': 0.14}]
chr4 GH04I022499 22499081 22503956 1.18 [{'connected_gene': 'ADGRA3', 'score': 9.28}, {'connected_gene': 'PIR53421', 'score': 0.44}, {'connected_gene': 'GC04P022366', 'score': 0.12}]
chr4 GH04I022489 22489846 22491781 0.62 [{'connected_gene': 'ADGRA3', 'score': 19.38}, {'connected_gene': 'PIR53421', 'score': 0.37}, {'connected_gene': 'GC04P022366', 'score': 0.13}]
chr4 GH04I022487 22487264 22488608 0.6 [{'connected_gene': 'ADGRA3', 'score': 19.78}, {'connected_gene': 'PIR53421', 'score': 0.37}, {'connected_gene': 'GC04P022366', 'score': 0.13}]
chr4 GH04I022482 22482244 22486493 1.14 [{'connected_gene': 'ADGRA3', 'score': 20.07}, {'connected_gene': 'PIR53421', 'score': 0.34}, {'connected_gene': 'GC04P022366', 'score': 0.13}]
chr4 GH04I022513 22513463 22517216 2.13 [{'connected_gene': 'ADGRA3', 'score': 555.8}, {'connected_gene': 'PIR53421', 'score': 0.44}]
chr4 GH04I022635 22635172 22635409 0.36 [{'connected_gene': 'LOC105374520', 'score': 550.77}, {'connected_gene': 'ADGRA3', 'score': 10.5}, {'connected_gene': 'GBA3', 'score': 1.83}, {'connected_gene': 'GC04P022629', 'score': 0.44}]
chr4 GH04I022634 22634610 22634740 0.42 [{'connected_gene': 'LOC105374520', 'score': 550.77}, {'connected_gene': 'ADGRA3', 'score': 10.5}, {'connected_gene': 'GC04P022629', 'score': 0.44}]
chr4 GH04I022389 22389378 22389507 0.56 [{'connected_gene': 'GC04P022366', 'score': 0.34}, {'connected_gene': 'ADGRA3', 'score': 0.13}, {'connected_gene': 'PIR53421', 'score': 0.13}]
chr4 GH04I022385 22385074 22386272 0.46 [{'connected_gene': 'GC04P022366', 'score': 0.37}, {'connected_gene': 'PIR53421', 'score': 0.13}, {'connected_gene': 'ADGRA3', 'score': 0.12}]