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
ENST00000221086 [[11141924, 11142579], [11152702, 11152811], [11157531, 11157657], [11162349, 11162523], [11163698, 11163916], [11167035, 11167197], [11172431, 11172573], [11174181, 11174402], [11177195, 11177347], [11180133, 11185646]] [[11142397, 11142579], [11152702, 11152811], [11157531, 11157657], [11162349, 11162523], [11163698, 11163916], [11167035, 11167197], [11172431, 11172573], [11174181, 11174402], [11177195, 11177347], [11180133, 11180297]]
ENST00000530200 [[11142335, 11142579], [11152702, 11152811], [11155408, 11155460], [11157531, 11157657], [11162349, 11162523], [11163698, 11163916], [11167035, 11167197], [11172431, 11172573], [11174181, 11174402], [11177195, 11177347], [11180133, 11182036]] [[11142397, 11142579], [11152702, 11152811], [11155408, 11155423]]
ENST00000526292 [[11142602, 11142825], [11152702, 11152811], [11157531, 11157657], [11162349, 11162523], [11163698, 11163916], [11167035, 11167197], [11172431, 11172573], [11174181, 11174402], [11177195, 11177347], [11180133, 11180566]] [[11152775, 11152811], [11157531, 11157657], [11162349, 11162523], [11163698, 11163916], [11167035, 11167197], [11172431, 11172573], [11174181, 11174402], [11177195, 11177347], [11180133, 11180297]]
ENST00000528389 [[11152283, 11152811], [11157531, 11158286]] None
NM_015458 [[11141999, 11142579], [11152702, 11152811], [11157531, 11157657], [11162349, 11162523], [11163698, 11163916], [11167035, 11167197], [11172431, 11172573], [11174181, 11174402], [11177195, 11177347], [11180133, 11185655]] [[11142397, 11142579], [11152702, 11152811], [11157531, 11157657], [11162349, 11162523], [11163698, 11163916], [11167035, 11167197], [11172431, 11172573], [11174181, 11174402], [11177195, 11177347], [11180133, 11180297]]
Promoter
Chrom Start End Description
chr8 11141926 11141937 CAGE_peak_5_at_MTMR9_5end
chr8 11141944 11141969 CAGE_peak_3_at_MTMR9_5end
chr8 11141984 11142047 CAGE_peak_2_at_MTMR9_5end
chr8 11142299 11142375 CAGE_peak_1_at_MTMR9_5end
chr8 11183173 11183183 CAGE_peak_4_at_MTMR9_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I011294 11294332 11294481 0.52 [{'connected_gene': 'SLC35G5', 'score': 10.92}, {'connected_gene': 'LINC00529', 'score': 10.06}, {'connected_gene': 'MTMR9', 'score': 0.44}, {'connected_gene': 'ENSG00000280273', 'score': 0.44}, {'connected_gene': 'PIR36234', 'score': 0.29}]
chr8 GH08I011297 11297552 11297741 0.72 [{'connected_gene': 'SLC35G5', 'score': 10.94}, {'connected_gene': 'LINC00529', 'score': 10.06}, {'connected_gene': 'MTMR9', 'score': 0.39}, {'connected_gene': 'ENSG00000280273', 'score': 0.39}, {'connected_gene': 'PIR36234', 'score': 0.31}]
chr8 GH08I011304 11304472 11304641 0.63 [{'connected_gene': 'SLC35G5', 'score': 10.75}, {'connected_gene': 'ENSG00000280273', 'score': 0.37}, {'connected_gene': 'MTMR9', 'score': 0.34}, {'connected_gene': 'PIR36234', 'score': 0.34}]
chr8 GH08I011482 11482572 11484539 1.01 [{'connected_gene': 'FAM167A', 'score': 24.74}, {'connected_gene': 'FAM90A2P', 'score': 14.63}, {'connected_gene': 'LOC105379241', 'score': 14.21}, {'connected_gene': 'PINX1', 'score': 13.36}, {'connected_gene': 'LOC101929290', 'score': 13.07}, {'connected_gene': 'FAM86B1', 'score': 11.89}, {'connected_gene': 'FAM66A', 'score': 11.41}, {'connected_gene': 'MTMR9', 'score': 11.17}, {'connected_gene': 'FAM66D', 'score': 11.16}, {'connected_gene': 'ENPP7P12', 'score': 9.83}, {'connected_gene': 'FAM86B2', 'score': 9.69}, {'connected_gene': 'ENSG00000269918', 'score': 4.83}, {'connected_gene': 'BLK', 'score': 0.39}]
chr8 GH08I011455 11455889 11458985 2.16 [{'connected_gene': 'FAM167A', 'score': 574.87}, {'connected_gene': 'BLK', 'score': 11.27}, {'connected_gene': 'LOC105379241', 'score': 11.15}, {'connected_gene': 'ENSG00000255518', 'score': 11.14}, {'connected_gene': 'ENSG00000255354', 'score': 11.14}, {'connected_gene': 'ENSG00000255310', 'score': 7.73}, {'connected_gene': 'XKR6', 'score': 3.25}, {'connected_gene': 'MTMR9', 'score': 2.21}, {'connected_gene': 'PIR35143', 'score': 0.29}]
chr8 GH08I011464 11464353 11468260 2.46 [{'connected_gene': 'FAM167A', 'score': 567.44}, {'connected_gene': 'PINX1', 'score': 13.36}, {'connected_gene': 'LOC101929290', 'score': 13.08}, {'connected_gene': 'LOC105379241', 'score': 12.35}, {'connected_gene': 'ENSG00000255310', 'score': 8.15}, {'connected_gene': 'MTMR9', 'score': 1.91}, {'connected_gene': 'NEIL2', 'score': 1.19}, {'connected_gene': 'XKR6', 'score': 1.18}, {'connected_gene': 'PIR35143', 'score': 0.26}]
chr8 GH08I011472 11472877 11477987 1.28 [{'connected_gene': 'FAM167A', 'score': 570.09}, {'connected_gene': 'FAM66A', 'score': 22.73}, {'connected_gene': 'FAM66D', 'score': 21.4}, {'connected_gene': 'LOC105379241', 'score': 15.4}, {'connected_gene': 'LOC101929290', 'score': 14.52}, {'connected_gene': 'FAM90A2P', 'score': 13.94}, {'connected_gene': 'FAM86B1', 'score': 13.88}, {'connected_gene': 'PINX1', 'score': 12.2}, {'connected_gene': 'ALG1L11P', 'score': 11.35}, {'connected_gene': 'MTMR9', 'score': 10.54}, {'connected_gene': 'LOC102723313', 'score': 10.11}, {'connected_gene': 'ENSG00000255310', 'score': 9.6}, {'connected_gene': 'LOC100129129', 'score': 5.1}, {'connected_gene': 'PIR35143', 'score': 0.23}]
chr8 GH08I011573 11573652 11573873 0.8 [{'connected_gene': 'FAM90A2P', 'score': 12.43}, {'connected_gene': 'MTMR9', 'score': 10.65}, {'connected_gene': 'FAM66A', 'score': 10.42}, {'connected_gene': 'FAM66D', 'score': 5.48}, {'connected_gene': 'LINC00208', 'score': 0.77}, {'connected_gene': 'ENSG00000255354', 'score': 0.39}]
chr8 GH08I011283 11283695 11286001 2.09 [{'connected_gene': 'MTMR9', 'score': 559.97}, {'connected_gene': 'ENSG00000280273', 'score': 550.77}, {'connected_gene': 'PINX1', 'score': 26.51}, {'connected_gene': 'LOC101929290', 'score': 23.41}, {'connected_gene': 'FAM90A2P', 'score': 23.06}, {'connected_gene': 'LOC100129129', 'score': 11.36}, {'connected_gene': 'FAM86B1', 'score': 10.29}, {'connected_gene': 'ENSG00000272505', 'score': 4.36}]
chr8 GH08I011013 11013982 11017154 1.49 [{'connected_gene': 'MTMR9', 'score': 10.69}, {'connected_gene': 'ENSG00000269918', 'score': 9.04}, {'connected_gene': 'ENSG00000255310', 'score': 8.7}, {'connected_gene': 'XKR6', 'score': 1.27}, {'connected_gene': 'MIR598', 'score': 0.37}, {'connected_gene': 'GC08P010967', 'score': 0.25}, {'connected_gene': 'PIR55470', 'score': 0.25}]
chrX GH0XI064850 64850644 64851059 0.28 [{'connected_gene': 'MTMR8', 'score': 4.25}, {'connected_gene': 'LOC105373239', 'score': 0.44}, {'connected_gene': 'GC0XM064895', 'score': 0.26}]
chrX GH0XI064351 64351672 64352675 0.31 [{'connected_gene': 'MTMR8', 'score': 12.71}, {'connected_gene': 'GC0XM064277', 'score': 0.29}, {'connected_gene': 'GC0XM064275', 'score': 0.29}, {'connected_gene': 'GC0XM064276', 'score': 0.29}, {'connected_gene': 'LOC100421109', 'score': 0.25}]
chr8 GH08I011292 11292290 11292909 0.54 [{'connected_gene': 'MTMR9', 'score': 8.8}, {'connected_gene': 'ENSG00000280273', 'score': 0.44}, {'connected_gene': 'PIR36234', 'score': 0.29}]
chrX GH0XI064394 64394401 64396070 1.81 [{'connected_gene': 'MTMR8', 'score': 550.77}, {'connected_gene': 'GC0XM064277', 'score': 0.39}]
chr8 GH08I011506 11506133 11518124 1.63 [{'connected_gene': 'PINX1', 'score': 81.84}, {'connected_gene': 'LOC101929290', 'score': 79.19}, {'connected_gene': 'FAM90A2P', 'score': 34.12}, {'connected_gene': 'MTMR9', 'score': 30.38}, {'connected_gene': 'FAM66A', 'score': 30.21}, {'connected_gene': 'FAM167A', 'score': 24.61}, {'connected_gene': 'LOC105379241', 'score': 22.07}, {'connected_gene': 'FAM66D', 'score': 19.37}, {'connected_gene': 'FAM86B1', 'score': 11.89}, {'connected_gene': 'ENSG00000255518', 'score': 11.09}, {'connected_gene': 'ENSG00000255354', 'score': 11.09}, {'connected_gene': 'ENPP7P6', 'score': 10.34}, {'connected_gene': 'ENPP7P12', 'score': 9.83}, {'connected_gene': 'FAM86B2', 'score': 9.69}, {'connected_gene': 'LOC100129129', 'score': 6.2}, {'connected_gene': 'ENSG00000269954', 'score': 6.05}, {'connected_gene': 'ENSG00000255310', 'score': 5.95}, {'connected_gene': 'ENSG00000269918', 'score': 5.76}, {'connected_gene': 'ENSG00000270154', 'score': 5.14}, {'connected_gene': 'BLK', 'score': 4.13}]
chr8 GH08I011178 11178857 11179041 0.33 [{'connected_gene': 'XKR6', 'score': 14.26}, {'connected_gene': 'ENSG00000254936', 'score': 11.31}, {'connected_gene': 'MTMR9', 'score': 1.82}, {'connected_gene': 'RPL17P29', 'score': 0.77}, {'connected_gene': 'GC08M011176', 'score': 0.44}]
chrX GH0XI064334 64334428 64334591 0.24 [{'connected_gene': 'AMER1', 'score': 3.6}, {'connected_gene': 'MTMR8', 'score': 2.68}, {'connected_gene': 'LOC100421109', 'score': 0.31}, {'connected_gene': 'GC0XM064277', 'score': 0.25}, {'connected_gene': 'GC0XM064275', 'score': 0.25}, {'connected_gene': 'GC0XM064276', 'score': 0.25}]
chr8 GH08I010850 10850290 10851200 0.87 [{'connected_gene': 'LOC101929248', 'score': 550.77}, {'connected_gene': 'MTMR9', 'score': 10.64}, {'connected_gene': 'RP1L1', 'score': 9.42}, {'connected_gene': 'ENSG00000269918', 'score': 6.41}, {'connected_gene': 'ENSG00000280294', 'score': 0.44}]
chrX GH0XI063433 63433159 63435430 0.85 [{'connected_gene': 'LOC100421109', 'score': 12.88}, {'connected_gene': 'SPIN4-AS1', 'score': 11.51}, {'connected_gene': 'MTMR8', 'score': 10.03}, {'connected_gene': 'PIR59801', 'score': 0.21}, {'connected_gene': 'LINC01278', 'score': 0.13}]