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
ENST00000545643 [[14299471, 14300970], [14303147, 14303266], [14316016, 14316125], [14316305, 14316408], [14317313, 14317419], [14380308, 14380730]] [[14300882, 14300970], [14303147, 14303266], [14316016, 14316125], [14316305, 14316408], [14317313, 14317419], [14380308, 14380416]]
ENST00000537760 [[14299471, 14300970], [14303147, 14303266], [14316016, 14316125], [14316305, 14316408], [14317313, 14317401], [14385936, 14386052]] [[14300882, 14300970], [14303147, 14303266], [14316016, 14316125], [14316305, 14316408], [14317313, 14317401], [14385936, 14385939]]
ENST00000414023 [[14299509, 14300970], [14303147, 14303266], [14316016, 14316125], [14316305, 14316408], [14317313, 14317405]] [[14300882, 14300970], [14303147, 14303266], [14316016, 14316125], [14316305, 14316373]]
ENST00000529237 [[14300227, 14300970], [14303147, 14303266], [14316016, 14316125], [14316305, 14316408], [14317313, 14317401], [14385936, 14386052]] [[14300882, 14300970], [14303147, 14303266], [14316016, 14316125], [14316305, 14316373]]
ENST00000256196 [[14300295, 14300970], [14303147, 14303266], [14316016, 14316125], [14316305, 14316408], [14317313, 14317401], [14380308, 14380730]] [[14300882, 14300970], [14303147, 14303266], [14316016, 14316125], [14316305, 14316408], [14317313, 14317401], [14380308, 14380416]]
ENST00000534746 [[14300484, 14300970], [14303147, 14303266], [14316016, 14316125], [14316305, 14316408], [14317313, 14317401], [14375958, 14376046]] [[14300882, 14300970], [14303147, 14303266], [14316016, 14316125], [14316305, 14316373]]
ENST00000526063 [[14300648, 14300970], [14303147, 14303266], [14316016, 14316125], [14316305, 14316408], [14317313, 14317401], [14379802, 14380031]] [[14300882, 14300970], [14303147, 14303266], [14316016, 14316125], [14316305, 14316373]]
ENST00000532814 [[14300655, 14300970], [14303147, 14303266], [14316016, 14316125], [14316305, 14316408], [14317313, 14317401], [14379783, 14380031]] [[14300882, 14300970], [14303147, 14303266], [14316016, 14316125], [14316305, 14316373]]
ENST00000531807 [[14300942, 14300970], [14303147, 14303266], [14316016, 14316125], [14316305, 14316408], [14317313, 14317401], [14363355, 14363640]] [[14300942, 14300970], [14303147, 14303266], [14316016, 14316125], [14316305, 14316408], [14317313, 14317401], [14363355, 14363406]]
ENST00000532950 [[14303147, 14303266], [14316016, 14316125], [14316305, 14316408], [14317313, 14317401], [14378231, 14378315], [14380308, 14380693]] [[14378279, 14378315], [14380308, 14380416]]
ENST00000531421 [[14303235, 14303266], [14316016, 14316125], [14316305, 14316408], [14317313, 14317401], [14358546, 14358712]] [[14303235, 14303266], [14316016, 14316125], [14316305, 14316373]]
ENST00000526717 [[14316005, 14316125], [14316305, 14316408], [14317313, 14317401], [14329752, 14329863], [14380308, 14380701]] [[14329812, 14329863], [14380308, 14380416]]
NM_001177315 [[14299465, 14300970], [14303147, 14303266], [14316016, 14316125], [14316305, 14316408], [14317313, 14317401], [14379783, 14380031]] [[14300882, 14300970], [14303147, 14303266], [14316016, 14316125], [14316305, 14316373]]
NM_001102669 [[14299465, 14300970], [14303147, 14303266], [14316016, 14316125], [14316305, 14316408], [14317313, 14317401], [14379802, 14380073]] [[14300882, 14300970], [14303147, 14303266], [14316016, 14316125], [14316305, 14316373]]
NM_012250 [[14299465, 14300970], [14303147, 14303266], [14316016, 14316125], [14316305, 14316408], [14317313, 14317401], [14380308, 14380730]] [[14300882, 14300970], [14303147, 14303266], [14316016, 14316125], [14316305, 14316408], [14317313, 14317401], [14380308, 14380416]]
NM_001177314 [[14299465, 14300970], [14303147, 14303266], [14316016, 14316125], [14316305, 14316408], [14317313, 14317401], [14385936, 14386052]] [[14300882, 14300970], [14303147, 14303266], [14316016, 14316125], [14316305, 14316408], [14317313, 14317401], [14385936, 14385939]]
Promoter
Chrom Start End Description
chr11 14358620 14358659 CAGE_peak_4_at_RRAS2_5end
chr11 14358790 14358812 CAGE_peak_5_at_RRAS2_5end
chr11 14379997 14380064 CAGE_peak_2_at_RRAS2_5end
chr11 14380664 14380739 CAGE_peak_1_at_RRAS2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I014540 14540001 14540800 0.85 [{'connected_gene': 'PSMA1', 'score': 12.15}, {'connected_gene': 'PDE3B', 'score': 12.15}, {'connected_gene': 'COPB1', 'score': 11.25}, {'connected_gene': 'RRAS2', 'score': 4.22}, {'connected_gene': 'ENSG00000256206', 'score': 0.34}, {'connected_gene': 'PIR39085', 'score': 0.22}]
chr11 GH11I014518 14518458 14521413 2.08 [{'connected_gene': 'PSMA1', 'score': 560.54}, {'connected_gene': 'ENSG00000256206', 'score': 550.77}, {'connected_gene': 'COPB1', 'score': 36.56}, {'connected_gene': 'CYP2R1', 'score': 9.91}, {'connected_gene': 'SPON1', 'score': 8.83}, {'connected_gene': 'RRAS2', 'score': 6.03}]
chr11 GH11I014253 14253490 14255386 0.52 [{'connected_gene': 'RRAS2', 'score': 5.83}, {'connected_gene': 'SPON1-AS1', 'score': 0.37}, {'connected_gene': 'RNA5SP332', 'score': 0.13}, {'connected_gene': 'SPON1', 'score': 0.06}]
chr11 GH11I014269 14269966 14272300 0.72 [{'connected_gene': 'RRAS2', 'score': 10.23}, {'connected_gene': 'SPON1-AS1', 'score': 0.77}, {'connected_gene': 'RNA5SP332', 'score': 0.12}]
chr11 GH11I014344 14344179 14344992 0.2 [{'connected_gene': 'RRAS2', 'score': 0.37}, {'connected_gene': 'SPON1-AS1', 'score': 0.19}]
chr11 GH11I014347 14347691 14348220 0.38 [{'connected_gene': 'RRAS2', 'score': 0.37}, {'connected_gene': 'SPON1-AS1', 'score': 0.19}]
chr11 GH11I014330 14330942 14332267 0.63 [{'connected_gene': 'RRAS2', 'score': 0.29}, {'connected_gene': 'SPON1-AS1', 'score': 0.22}]
chr11 GH11I014356 14356201 14356800 0.74 [{'connected_gene': 'RRAS2', 'score': 0.44}, {'connected_gene': 'SPON1-AS1', 'score': 0.18}]
chr11 GH11I014359 14359835 14360064 0.76 [{'connected_gene': 'RRAS2', 'score': 0.77}, {'connected_gene': 'SPON1-AS1', 'score': 0.17}]
chr11 GH11I014334 14334714 14343779 1.82 [{'connected_gene': 'RRAS2', 'score': 554.97}, {'connected_gene': 'SPON1-AS1', 'score': 0.2}]
chr11 GH11I014357 14357200 14359818 2.17 [{'connected_gene': 'RRAS2', 'score': 560.45}, {'connected_gene': 'SPON1-AS1', 'score': 0.18}]
chr11 GH11I014329 14329425 14330220 0.2 [{'connected_gene': 'RRAS2', 'score': 0.29}, {'connected_gene': 'SPON1-AS1', 'score': 0.22}]
chr11 GH11I014345 14345520 14346712 0.46 [{'connected_gene': 'RRAS2', 'score': 0.37}, {'connected_gene': 'SPON1-AS1', 'score': 0.19}]
chr11 GH11I014380 14380759 14382056 1.25 [{'connected_gene': 'RRAS2', 'score': 0.37}, {'connected_gene': 'LOC105376670', 'score': 0.23}]
chr11 GH11I014382 14382075 14382092 0.58 [{'connected_gene': 'RRAS2', 'score': 0.37}, {'connected_gene': 'LOC105376670', 'score': 0.23}]
chr11 GH11I014384 14384455 14384604 0.2 [{'connected_gene': 'RRAS2', 'score': 9.05}, {'connected_gene': 'LOC105376670', 'score': 0.23}]
chr11 GH11I014386 14386516 14387414 0.52 [{'connected_gene': 'RRAS2', 'score': 0.34}, {'connected_gene': 'LOC105376670', 'score': 0.25}]
chr11 GH11I014376 14376482 14377847 0.31 [{'connected_gene': 'RRAS2', 'score': 0.39}, {'connected_gene': 'LOC105376670', 'score': 0.22}]
chr11 GH11I014368 14368731 14370696 0.31 [{'connected_gene': 'RRAS2', 'score': 10.57}, {'connected_gene': 'LOC105376670', 'score': 0.2}]
chr11 GH11I014410 14410891 14415985 0.91 [{'connected_gene': 'RRAS2', 'score': 6.22}, {'connected_gene': 'LOC105376670', 'score': 0.34}]
chr11 GH11I014287 14287481 14289986 0.58 [{'connected_gene': 'RRAS2', 'score': 10.25}, {'connected_gene': 'SPON1', 'score': 8.22}, {'connected_gene': 'SPON1-AS1', 'score': 0.37}]
chr11 GH11I013991 13991752 13994203 0.78 [{'connected_gene': 'RRAS2', 'score': 4.4}, {'connected_gene': 'GC11M013996', 'score': 0.39}, {'connected_gene': 'SPON1', 'score': 0.29}]
chr11 GH11I013939 13939725 13941096 0.53 [{'connected_gene': 'RRAS2', 'score': 2.46}, {'connected_gene': 'LOC101928132', 'score': 0.37}, {'connected_gene': 'SPON1', 'score': 0.34}]
chr11 GH11I014445 14445011 14447854 0.72 [{'connected_gene': 'COPB1', 'score': 9.06}, {'connected_gene': 'RRAS2', 'score': 6.09}, {'connected_gene': 'LOC105376670', 'score': 0.39}, {'connected_gene': 'GC11P014466', 'score': 0.34}]
chr11 GH11I014416 14416810 14418017 0.38 [{'connected_gene': 'COPB1', 'score': 9.47}, {'connected_gene': 'RRAS2', 'score': 6.23}, {'connected_gene': 'LOC105376670', 'score': 0.37}]
chr11 GH11I014307 14307958 14316715 1.23 [{'connected_gene': 'SPON1-AS1', 'score': 10.23}, {'connected_gene': 'RRAS2', 'score': 4.55}]
chr11 GH11I014322 14322023 14328173 1.12 [{'connected_gene': 'SPON1-AS1', 'score': 11.03}, {'connected_gene': 'RRAS2', 'score': 9.65}]
chr11 GH11I014303 14303932 14305769 0.31 [{'connected_gene': 'SPON1-AS1', 'score': 12.04}, {'connected_gene': 'RRAS2', 'score': 0.22}]
chr11 GH11I014319 14319559 14320665 0.87 [{'connected_gene': 'SPON1-AS1', 'score': 11.03}, {'connected_gene': 'RRAS2', 'score': 0.26}]
chr11 GH11I014274 14274655 14275776 0.2 [{'connected_gene': 'SPON1-AS1', 'score': 550.77}, {'connected_gene': 'RRAS2', 'score': 0.17}]
chr11 GH11I014349 14349795 14351070 0.69 [{'connected_gene': 'SPON1-AS1', 'score': 10.74}, {'connected_gene': 'RRAS2', 'score': 4.85}]
chr11 GH11I014300 14300600 14301024 1.15 [{'connected_gene': 'SPON1-AS1', 'score': 0.31}, {'connected_gene': 'RRAS2', 'score': 0.21}]
chr11 GH11I014419 14418955 14419064 0.62 [{'connected_gene': 'SPON1-AS1', 'score': 10.78}, {'connected_gene': 'LOC105376670', 'score': 0.37}, {'connected_gene': 'RRAS2', 'score': 0.23}]
chr11 GH11I014421 14421270 14425059 1.4 [{'connected_gene': 'SPON1-AS1', 'score': 10.78}, {'connected_gene': 'SPON1', 'score': 9.78}, {'connected_gene': 'COPB1', 'score': 9.46}, {'connected_gene': 'RRAS2', 'score': 6.87}, {'connected_gene': 'LOC105376670', 'score': 0.39}]
chr11 GH11I014418 14418095 14418264 0.2 [{'connected_gene': 'LOC105376670', 'score': 0.37}, {'connected_gene': 'RRAS2', 'score': 0.23}]
chr11 GH11I014407 14407232 14408194 0.2 [{'connected_gene': 'LOC105376670', 'score': 0.31}, {'connected_gene': 'RRAS2', 'score': 0.26}]
chr11 GH11I014373 14373720 14375785 0.89 [{'connected_gene': 'SPON1', 'score': 10.81}, {'connected_gene': 'RRAS2', 'score': 0.39}, {'connected_gene': 'LOC105376670', 'score': 0.21}]