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
ENST00000370706 [[56954807, 56955072], [56955608, 56955692], [56963858, 56963939], [56989531, 56989657], [56993526, 56993638], [56997839, 56997990], [56999541, 56999668], [57006099, 57006253], [57006745, 57006893], [57011887, 57013491], [57015516, 57015660], [57017018, 57017149], [57018658, 57018845], [57025881, 57025950], [57033220, 57035105]] [[56955051, 56955072], [56955608, 56955692], [56963858, 56963939], [56989531, 56989657], [56993526, 56993638], [56997839, 56997990], [56999541, 56999668], [57006099, 57006253], [57006745, 57006893], [57011887, 57013491], [57015516, 57015660], [57017018, 57017149], [57018658, 57018845], [57025881, 57025950], [57033220, 57033267]]
ENST00000357489 [[56954827, 56955072], [56955608, 56955692], [56963858, 56963939], [56989531, 56989657], [56993526, 56993638], [56997839, 56997990], [56999541, 56999668], [57006099, 57006253], [57006745, 57006893], [57011887, 57013491], [57017018, 57017149], [57018658, 57018845], [57025881, 57025950], [57033220, 57034999]] [[56955051, 56955072], [56955608, 56955692], [56963858, 56963939], [56989531, 56989657], [56993526, 56993638], [56997839, 56997990], [56999541, 56999668], [57006099, 57006253], [57006745, 57006893], [57011887, 57013491], [57017018, 57017149], [57018658, 57018845], [57025881, 57025950], [57033220, 57033267]]
ENST00000491832 [[56954986, 56955072], [56955608, 56955692], [56963858, 56963939], [56989531, 56989657], [56993526, 56993638], [56997839, 56997990], [56999541, 56999668], [57006099, 57006253], [57006745, 57006893], [57011887, 57013491], [57015516, 57015660], [57017018, 57017149], [57018658, 57019342]] [[56955051, 56955072], [56955608, 56955692], [56963858, 56963939], [56989531, 56989657], [56993526, 56993638], [56997839, 56997990], [56999541, 56999668], [57006099, 57006253], [57006745, 57006893], [57011887, 57013491], [57015516, 57015660], [57017018, 57017149], [57018658, 57018901]]
ENST00000504603 [[56955022, 56955072], [56955608, 56955692], [57006745, 57006893], [57025881, 57025950], [57033220, 57033430]] [[56955051, 56955072], [56955608, 56955692], [57006745, 57006802]]
ENST00000515290 [[56951641, 56951706], [56955608, 56955692], [56963858, 56963939], [56989531, 56989657], [56993526, 56993638], [56997839, 56997952]] [[56993631, 56993638], [56997839, 56997952]]
ENST00000510483 [[56954807, 56955072], [56963858, 56963939], [56989531, 56989657], [56993526, 56993638], [56997839, 56997974]] [[56955051, 56955072], [56963858, 56963939], [56989531, 56989657], [56993526, 56993638], [56997839, 56997974]]
ENST00000370708 [[56954873, 56955072], [56955608, 56955692], [56963858, 56963939], [56965400, 56974514]] [[56955051, 56955072], [56955608, 56955692], [56963858, 56963939], [56965400, 56966894]]
ENST00000370702 [[56954874, 56955072], [56955608, 56955692], [56963858, 56963939], [56989226, 56989321]] [[56955051, 56955072], [56955608, 56955692], [56963858, 56963939], [56989226, 56989262]]
ENST00000444273 [[56954910, 56955072], [56955608, 56955692], [56963858, 56963939], [56989531, 56989657], [56993526, 56993638], [56997839, 56997990], [56999541, 56999668], [57006099, 57006253], [57006745, 57006893], [57011887, 57013491], [57015516, 57016169]] None
ENST00000370711 [[56954936, 56955072], [56955608, 56955692], [56963858, 56963939], [56964266, 56964366], [56989531, 56989657], [56993526, 56993608]] [[56955051, 56955072], [56955608, 56955692], [56963858, 56963939], [56964266, 56964308]]
ENST00000508603 [[56954966, 56955072], [56963858, 56963939], [56965400, 56965751]] [[56955051, 56955072], [56963858, 56963939], [56965400, 56965751]]
ENST00000370710 [[56955004, 56955072], [56955608, 56955692], [56963858, 56963939], [56964266, 56964408]] [[56955051, 56955072], [56955608, 56955692], [56963858, 56963939], [56964266, 56964308]]
ENST00000502749 [[56955008, 56955072], [56955630, 56955692], [56963858, 56963939], [56989531, 56989657], [56993526, 56993638], [56997839, 56997990], [56999541, 56999668], [57006099, 57006166]] [[56955051, 56955072], [56955630, 56955692], [56963858, 56963939], [56989531, 56989586]]
ENST00000509071 [[56955580, 56955692], [56963858, 56963939], [56964266, 56964366], [56989531, 56989657], [56993526, 56993584]] None
ENST00000510989 [[56956227, 56956250], [56957582, 56957849], [56963858, 56963939], [56965400, 56965587]] None
ENST00000509251 [[56967358, 56967677], [56989531, 56989657], [56991329, 56991397]] None
ENST00000508548 [[57016954, 57017149], [57018658, 57018958]] None
ENST00000504364 [[57025605, 57025950], [57033220, 57033631]] None
NM_015555 [[56954827, 56955072], [56955608, 56955692], [56963858, 56963939], [56989531, 56989657], [56993526, 56993638], [56997839, 56997990], [56999541, 56999668], [57006099, 57006253], [57006745, 57006893], [57011887, 57013491], [57017018, 57017149], [57018658, 57018845], [57025881, 57025950], [57033220, 57035098]] [[56955051, 56955072], [56955608, 56955692], [56963858, 56963939], [56989531, 56989657], [56993526, 56993638], [56997839, 56997990], [56999541, 56999668], [57006099, 57006253], [57006745, 57006893], [57011887, 57013491], [57017018, 57017149], [57018658, 57018845], [57025881, 57025950], [57033220, 57033267]]
NM_001031623 [[56954827, 56955072], [56955608, 56955692], [56963858, 56963939], [56989531, 56989657], [56993526, 56993638], [56997839, 56997990], [56999541, 56999668], [57006099, 57006253], [57006745, 57006893], [57011887, 57013491], [57015516, 57015660], [57017018, 57017149], [57018658, 57018845], [57025881, 57025950], [57033220, 57035098]] [[56955051, 56955072], [56955608, 56955692], [56963858, 56963939], [56989531, 56989657], [56993526, 56993638], [56997839, 56997990], [56999541, 56999668], [57006099, 57006253], [57006745, 57006893], [57011887, 57013491], [57015516, 57015660], [57017018, 57017149], [57018658, 57018845], [57025881, 57025950], [57033220, 57033267]]
NM_001257273 [[56954807, 56955072], [56955608, 56955692], [56963858, 56963939], [56965400, 56974514]] [[56955051, 56955072], [56955608, 56955692], [56963858, 56963939], [56965400, 56966894]]
Promoter
Chrom Start End Description
chr6 56954830 56954845 CAGE_peak_3_at_ZNF451_5end
chr6 56954867 56954882 CAGE_peak_2_at_ZNF451_5end
chr6 56954905 56954915 CAGE_peak_4_at_ZNF451_5end
chr6 56954919 56955000 CAGE_peak_1_at_ZNF451_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I056226 56226544 56228081 0.2 [{'connected_gene': 'COL21A1', 'score': 17.59}, {'connected_gene': 'ZNF451', 'score': 5.08}, {'connected_gene': 'GC06M056228', 'score': 0.77}, {'connected_gene': 'LOC105375100', 'score': 0.08}]
chr6 GH06I056707 56707515 56710492 1.17 [{'connected_gene': 'DST', 'score': 22.7}, {'connected_gene': 'ZNF451', 'score': 9.97}, {'connected_gene': 'KIAA1586', 'score': 9.89}, {'connected_gene': 'BEND6', 'score': 9.79}, {'connected_gene': 'GC06M056744', 'score': 0.23}, {'connected_gene': 'GC06P056616', 'score': 0.16}]
chr6 GH06I057176 57176496 57178681 0.58 [{'connected_gene': 'KIAA1586', 'score': 26.84}, {'connected_gene': 'PRIM2', 'score': 18.04}, {'connected_gene': 'ZNF451', 'score': 11.02}, {'connected_gene': 'LOC101927211', 'score': 0.77}, {'connected_gene': 'BAG2', 'score': 0.44}, {'connected_gene': 'RAB23', 'score': 0.26}]
chr6 GH06I057045 57045975 57048001 2.28 [{'connected_gene': 'KIAA1586', 'score': 565.35}, {'connected_gene': 'GC06M057041', 'score': 550.77}, {'connected_gene': 'PRIM2', 'score': 23.33}, {'connected_gene': 'BEND6', 'score': 16.01}, {'connected_gene': 'ZNF451', 'score': 11.43}, {'connected_gene': 'LOC101927211', 'score': 10.21}, {'connected_gene': 'BAG2', 'score': 10.21}, {'connected_gene': 'ENSG00000272316', 'score': 9.69}, {'connected_gene': 'PIR59769', 'score': 0.31}]
chr6 GH06I057181 57181083 57183127 0.43 [{'connected_gene': 'KIAA1586', 'score': 15.27}, {'connected_gene': 'RAB23', 'score': 11.89}, {'connected_gene': 'ZNF451', 'score': 11.01}, {'connected_gene': 'LOC101927211', 'score': 0.44}, {'connected_gene': 'BAG2', 'score': 0.44}]
chr6 GH06I057104 57104001 57104600 0.2 [{'connected_gene': 'KIAA1586', 'score': 10.77}, {'connected_gene': 'ZNF451', 'score': 4.92}, {'connected_gene': 'GC06M057088', 'score': 0.39}, {'connected_gene': 'BAG2', 'score': 0.2}]
chr6 GH06I056367 56367807 56373272 1.36 [{'connected_gene': 'KIAA1586', 'score': 23.81}, {'connected_gene': 'ZNF451', 'score': 10.73}, {'connected_gene': 'DST', 'score': 4.71}, {'connected_gene': 'PIR32262', 'score': 0.39}, {'connected_gene': 'COL21A1', 'score': 0.34}, {'connected_gene': 'ENSG00000227602', 'score': 0.28}]
chr6 GH06I056668 56668040 56674476 1.02 [{'connected_gene': 'KIAA1586', 'score': 15.0}, {'connected_gene': 'ZNF451', 'score': 13.18}, {'connected_gene': 'BEND6', 'score': 9.49}, {'connected_gene': 'DST', 'score': 9.49}, {'connected_gene': 'COL21A1', 'score': 5.03}, {'connected_gene': 'LOC101930010', 'score': 4.29}, {'connected_gene': 'GC06P056616', 'score': 0.22}, {'connected_gene': 'GC06M056744', 'score': 0.16}]
chr6 GH06I056523 56523756 56530192 1.35 [{'connected_gene': 'KIAA1586', 'score': 22.29}, {'connected_gene': 'ZNF451', 'score': 21.47}, {'connected_gene': 'BEND6', 'score': 18.79}, {'connected_gene': 'PRIM2', 'score': 10.01}, {'connected_gene': 'RAB23', 'score': 9.8}, {'connected_gene': 'GC06P056536', 'score': 0.44}, {'connected_gene': 'RCC2P7', 'score': 0.16}, {'connected_gene': 'DST', 'score': 0.04}]
chr6 GH06I056334 56334237 56336909 1.09 [{'connected_gene': 'ZNF451', 'score': 10.1}, {'connected_gene': 'ENSG00000227602', 'score': 0.77}, {'connected_gene': 'PIR32262', 'score': 0.25}, {'connected_gene': 'COL21A1', 'score': 0.22}]
chr6 GH06I056765 56765782 56768543 1.27 [{'connected_gene': 'ZNF451', 'score': 75.09}, {'connected_gene': 'KIAA1586', 'score': 39.84}, {'connected_gene': 'PRIM2', 'score': 36.2}, {'connected_gene': 'LOC101927211', 'score': 21.76}, {'connected_gene': 'BEND6', 'score': 19.11}, {'connected_gene': 'LOC101930010', 'score': 14.99}, {'connected_gene': 'RAB23', 'score': 10.67}, {'connected_gene': 'DST', 'score': 9.99}, {'connected_gene': 'GC06M056744', 'score': 0.44}, {'connected_gene': 'GC06P056805', 'score': 0.28}]
chr6 GH06I056717 56717145 56718453 0.59 [{'connected_gene': 'ZNF451', 'score': 21.86}, {'connected_gene': 'KIAA1586', 'score': 21.49}, {'connected_gene': 'LOC101927211', 'score': 12.7}, {'connected_gene': 'BEND6', 'score': 10.1}, {'connected_gene': 'PRIM2', 'score': 9.79}, {'connected_gene': 'LOC101930010', 'score': 9.57}, {'connected_gene': 'GC06M056744', 'score': 0.26}, {'connected_gene': 'GC06P056616', 'score': 0.15}, {'connected_gene': 'DST', 'score': 0.07}]
chr6 GH06I056513 56513536 56516154 0.84 [{'connected_gene': 'ZNF451', 'score': 39.58}, {'connected_gene': 'KIAA1586', 'score': 20.24}, {'connected_gene': 'LOC101927211', 'score': 19.67}, {'connected_gene': 'BEND6', 'score': 18.79}, {'connected_gene': 'GC06P056536', 'score': 0.34}, {'connected_gene': 'RCC2P7', 'score': 0.18}, {'connected_gene': 'DST', 'score': 0.05}]
chr6 GH06I056491 56491071 56492495 0.82 [{'connected_gene': 'ZNF451', 'score': 18.32}, {'connected_gene': 'PRIM2', 'score': 15.01}, {'connected_gene': 'GC06P056536', 'score': 0.26}, {'connected_gene': 'RCC2P7', 'score': 0.22}, {'connected_gene': 'DST', 'score': 0.04}]
chr6 GH06I057089 57089002 57091401 2.29 [{'connected_gene': 'ZNF451', 'score': 550.77}, {'connected_gene': 'GC06M057088', 'score': 550.77}, {'connected_gene': 'BEND6', 'score': 20.23}, {'connected_gene': 'KIAA1586', 'score': 16.7}, {'connected_gene': 'PRIM2', 'score': 13.76}]
chr6 GH06I057171 57171289 57176330 2.07 [{'connected_gene': 'LOC101927211', 'score': 550.77}, {'connected_gene': 'BAG2', 'score': 550.77}, {'connected_gene': 'KIAA1586', 'score': 29.45}, {'connected_gene': 'ZNF451', 'score': 27.09}, {'connected_gene': 'PRIM2', 'score': 13.52}, {'connected_gene': 'LINC00680', 'score': 11.85}]
chr6 GH06I057241 57241902 57243634 1.26 [{'connected_gene': 'GC06M057241', 'score': 550.77}, {'connected_gene': 'ZNF451', 'score': 19.8}, {'connected_gene': 'PRIM2', 'score': 16.04}, {'connected_gene': 'BAG2', 'score': 15.67}, {'connected_gene': 'GUSBP4', 'score': 12.23}, {'connected_gene': 'ENSG00000272316', 'score': 10.64}, {'connected_gene': 'KIAA1586', 'score': 9.92}, {'connected_gene': 'LOC101927211', 'score': 9.78}, {'connected_gene': 'BEND6', 'score': 5.89}, {'connected_gene': 'GC06P057245', 'score': 0.77}, {'connected_gene': 'GC06M057222', 'score': 0.34}]