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
ENST00000261455 [[212537272, 212538718], [212548534, 212548642], [212550903, 212551048], [212553236, 212553379], [212558615, 212558767], [212560232, 212560442], [212583766, 212583863], [212588063, 212588237]] [[212538556, 212538718], [212548534, 212548642], [212550903, 212551048], [212553236, 212553379], [212558615, 212558767], [212560232, 212560442], [212583766, 212583863], [212588063, 212588099]]
ENST00000535273 [[212537823, 212538718], [212548534, 212548642], [212550903, 212551048], [212553236, 212553379], [212558615, 212558767], [212560232, 212560442], [212583766, 212583863], [212587239, 212587422], [212588063, 212588243]] [[212538556, 212538718], [212548534, 212548642], [212550903, 212551048], [212553236, 212553379], [212558615, 212558767], [212560232, 212560442], [212583766, 212583863], [212587239, 212587422], [212588063, 212588099]]
ENST00000478166 [[212548562, 212548642], [212550135, 212550226], [212550903, 212551048]] None
ENST00000467822 [[212548589, 212548642], [212550903, 212551048], [212553236, 212553379], [212558615, 212558767], [212560232, 212560442], [212583467, 212583506]] None
ENST00000471937 [[212558615, 212558767], [212560232, 212560442], [212560954, 212561074], [212583766, 212583863], [212588063, 212588237]] None
NM_001198862 [[212537815, 212538718], [212548534, 212548642], [212550903, 212551048], [212553236, 212553379], [212558615, 212558767], [212560232, 212560442], [212583766, 212583863], [212587239, 212587422], [212588063, 212588243]] [[212538556, 212538718], [212548534, 212548642], [212550903, 212551048], [212553236, 212553379], [212558615, 212558767], [212560232, 212560442], [212583766, 212583863], [212587239, 212587422], [212588063, 212588099]]
NM_018252 [[212537815, 212538718], [212548534, 212548642], [212550903, 212551048], [212553236, 212553379], [212558615, 212558767], [212560232, 212560442], [212583766, 212583863], [212588063, 212588267]] [[212538556, 212538718], [212548534, 212548642], [212550903, 212551048], [212553236, 212553379], [212558615, 212558767], [212560232, 212560442], [212583766, 212583863], [212588063, 212588099]]
Promoter
Chrom Start End Description
chr1 212588157 212588265 CAGE_peak_1_at_TMEM206_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I211741 211741747 211743370 0.43 [{'connected_gene': 'LPGAT1', 'score': 8.75}, {'connected_gene': 'TMEM206', 'score': 5.05}, {'connected_gene': 'INTS7', 'score': 4.56}, {'connected_gene': 'PIR57135', 'score': 0.39}, {'connected_gene': 'PIR47428', 'score': 0.37}]
chr1 GH01I211895 211895010 211896039 1.01 [{'connected_gene': 'LPGAT1', 'score': 15.55}, {'connected_gene': 'TMEM206', 'score': 13.79}, {'connected_gene': 'LOC102723727', 'score': 10.97}, {'connected_gene': 'PIR53279', 'score': 0.34}, {'connected_gene': 'ENSG00000233626', 'score': 0.26}]
chr1 GH01I211755 211755451 211758605 0.38 [{'connected_gene': 'LPGAT1', 'score': 10.19}, {'connected_gene': 'ENSG00000212187', 'score': 10.01}, {'connected_gene': 'LOC102723727', 'score': 8.31}, {'connected_gene': 'TMEM206', 'score': 5.36}, {'connected_gene': 'INTS7', 'score': 4.67}, {'connected_gene': 'PIR57135', 'score': 0.77}, {'connected_gene': 'RN7SL344P', 'score': 0.28}]
chr1 GH01I211788 211788209 211791070 0.62 [{'connected_gene': 'LPGAT1', 'score': 10.58}, {'connected_gene': 'LOC102723727', 'score': 8.38}, {'connected_gene': 'TMEM206', 'score': 5.04}, {'connected_gene': 'INTS7', 'score': 4.55}, {'connected_gene': 'RN7SL344P', 'score': 0.77}, {'connected_gene': 'PIR57135', 'score': 0.28}]
chr1 GH01I211785 211785494 211786721 0.62 [{'connected_gene': 'LPGAT1', 'score': 20.52}, {'connected_gene': 'LOC102723727', 'score': 10.79}, {'connected_gene': 'TMEM206', 'score': 5.18}, {'connected_gene': 'RN7SL344P', 'score': 0.44}, {'connected_gene': 'PIR57135', 'score': 0.29}]
chr1 GH01I212594 212594814 212598098 1.76 [{'connected_gene': 'ANGEL2', 'score': 24.66}, {'connected_gene': 'ATF3', 'score': 19.14}, {'connected_gene': 'FAM71A', 'score': 11.59}, {'connected_gene': 'ENSG00000235862', 'score': 11.57}, {'connected_gene': 'BATF3', 'score': 10.38}, {'connected_gene': 'FLVCR1', 'score': 10.24}, {'connected_gene': 'TMEM206', 'score': 9.75}, {'connected_gene': 'PPP2R5A', 'score': 1.36}, {'connected_gene': 'GC01M212615', 'score': 0.37}]
chr1 GH01I212309 212309960 212311313 1.03 [{'connected_gene': 'RPL23AP18', 'score': 550.77}, {'connected_gene': 'PPP2R5A', 'score': 17.92}, {'connected_gene': 'TMEM206', 'score': 11.12}, {'connected_gene': 'DTL', 'score': 11.05}, {'connected_gene': 'INTS7', 'score': 11.05}, {'connected_gene': 'ENSG00000234915', 'score': 0.34}]
chr1 GH01I212306 212306764 212308276 0.77 [{'connected_gene': 'RPL23AP18', 'score': 550.77}, {'connected_gene': 'INTS7', 'score': 20.98}, {'connected_gene': 'FLVCR1', 'score': 18.62}, {'connected_gene': 'ANGEL2', 'score': 16.63}, {'connected_gene': 'TMEM206', 'score': 16.05}, {'connected_gene': 'DTL', 'score': 11.05}, {'connected_gene': 'RPL21P28', 'score': 11.02}, {'connected_gene': 'ENSG00000230063', 'score': 0.39}, {'connected_gene': 'PPP2R5A', 'score': 0.34}, {'connected_gene': 'ENSG00000234915', 'score': 0.34}]
chr1 GH01I212689 212689443 212689778 0.73 [{'connected_gene': 'SNORA16B', 'score': 15.97}, {'connected_gene': 'TMEM206', 'score': 13.82}, {'connected_gene': 'INTS7', 'score': 10.33}, {'connected_gene': 'ENSG00000229832', 'score': 9.69}, {'connected_gene': 'TATDN3', 'score': 6.68}, {'connected_gene': 'BATF3', 'score': 4.03}, {'connected_gene': 'GC01P212693', 'score': 0.77}, {'connected_gene': 'LOC102723761', 'score': 0.34}]
chr1 GH01I212401 212401905 212403575 0.82 [{'connected_gene': 'PPP2R5A', 'score': 17.81}, {'connected_gene': 'ATF3', 'score': 11.78}, {'connected_gene': 'TMEM206', 'score': 6.74}, {'connected_gene': 'LOC101929541', 'score': 6.43}, {'connected_gene': 'LINC01740', 'score': 5.43}, {'connected_gene': 'PIR60492', 'score': 0.28}]
chr1 GH01I212247 212247201 212248761 1.16 [{'connected_gene': 'PPP2R5A', 'score': 23.62}, {'connected_gene': 'LOC101929541', 'score': 15.46}, {'connected_gene': 'TMEM206', 'score': 14.93}, {'connected_gene': 'ENSG00000212187', 'score': 10.17}, {'connected_gene': 'GC01P212241', 'score': 0.44}]
chr1 GH01I211652 211652179 211655669 1.33 [{'connected_gene': 'TMEM206', 'score': 13.79}, {'connected_gene': 'SLC30A1', 'score': 5.31}, {'connected_gene': 'FDPSP8', 'score': 0.44}, {'connected_gene': 'LINC01693', 'score': 0.39}, {'connected_gene': 'ENSG00000228792', 'score': 0.39}]
chr1 GH01I211627 211627984 211629092 0.31 [{'connected_gene': 'TMEM206', 'score': 13.78}, {'connected_gene': 'SLC30A1', 'score': 13.32}, {'connected_gene': 'LINC01693', 'score': 0.39}, {'connected_gene': 'LOC105372903', 'score': 0.37}]
chr1 GH01I212461 212461928 212462851 0.2 [{'connected_gene': 'TMEM206', 'score': 15.9}, {'connected_gene': 'BATF3', 'score': 10.07}, {'connected_gene': 'LOC105372907', 'score': 0.39}, {'connected_gene': 'NENF', 'score': 0.31}]
chr1 GH01I212311 212311878 212314720 0.2 [{'connected_gene': 'TMEM206', 'score': 23.33}, {'connected_gene': 'PPP2R5A', 'score': 17.92}, {'connected_gene': 'DTL', 'score': 11.22}, {'connected_gene': 'INTS7', 'score': 11.22}, {'connected_gene': 'RPL23AP18', 'score': 0.77}, {'connected_gene': 'ENSG00000234915', 'score': 0.37}]
chr1 GH01I212138 212138599 212138762 0.99 [{'connected_gene': 'TMEM206', 'score': 9.85}, {'connected_gene': 'PPP2R5A', 'score': 2.49}, {'connected_gene': 'GC01P212144', 'score': 0.44}, {'connected_gene': 'GC01M212087', 'score': 0.34}]
chr1 GH01I212312 212311634 212311706 0.22 [{'connected_gene': 'TMEM206', 'score': 11.12}, {'connected_gene': 'DTL', 'score': 11.05}, {'connected_gene': 'INTS7', 'score': 11.05}, {'connected_gene': 'RPL23AP18', 'score': 0.77}, {'connected_gene': 'ENSG00000234915', 'score': 0.34}, {'connected_gene': 'PPP2R5A', 'score': 0.31}]
chr1 GH01I212339 212339988 212340377 0.26 [{'connected_gene': 'TMEM206', 'score': 12.01}, {'connected_gene': 'DTL', 'score': 11.01}, {'connected_gene': 'INTS7', 'score': 11.01}, {'connected_gene': 'ENSG00000212187', 'score': 10.47}, {'connected_gene': 'PPP2R5A', 'score': 7.79}, {'connected_gene': 'ENSG00000234915', 'score': 0.44}, {'connected_gene': 'GC01P212353', 'score': 0.39}]
chr1 GH01I212368 212368079 212368248 0.66 [{'connected_gene': 'TMEM206', 'score': 12.09}, {'connected_gene': 'DTL', 'score': 11.3}, {'connected_gene': 'INTS7', 'score': 11.3}, {'connected_gene': 'PIR60492', 'score': 0.77}]
chr1 GH01I212457 212457879 212458028 0.85 [{'connected_gene': 'TMEM206', 'score': 11.5}, {'connected_gene': 'ATF3', 'score': 10.83}, {'connected_gene': 'ENSG00000212187', 'score': 10.35}, {'connected_gene': 'BATF3', 'score': 9.98}, {'connected_gene': 'LOC105372907', 'score': 0.39}, {'connected_gene': 'NENF', 'score': 0.31}]
chr1 GH01I212455 212455479 212456865 1.2 [{'connected_gene': 'TMEM206', 'score': 23.1}, {'connected_gene': 'ATF3', 'score': 10.83}, {'connected_gene': 'ENSG00000212187', 'score': 10.35}, {'connected_gene': 'BATF3', 'score': 9.98}, {'connected_gene': 'LOC105372907', 'score': 0.37}, {'connected_gene': 'NENF', 'score': 0.34}]
chr1 GH01I212458 212458709 212461591 0.63 [{'connected_gene': 'TMEM206', 'score': 26.12}, {'connected_gene': 'ATF3', 'score': 10.83}, {'connected_gene': 'ENSG00000212187', 'score': 10.35}, {'connected_gene': 'BATF3', 'score': 10.35}, {'connected_gene': 'LOC101929541', 'score': 7.31}, {'connected_gene': 'NENF', 'score': 6.1}, {'connected_gene': 'LOC105372907', 'score': 0.39}]
chr1 GH01I212464 212464045 212465703 0.43 [{'connected_gene': 'TMEM206', 'score': 24.29}, {'connected_gene': 'LOC105372907', 'score': 11.23}, {'connected_gene': 'ATF3', 'score': 11.04}, {'connected_gene': 'BATF3', 'score': 10.79}, {'connected_gene': 'PPP2R5A', 'score': 5.9}, {'connected_gene': 'NENF', 'score': 0.29}]
chr1 GH01I212452 212452416 212453897 0.72 [{'connected_gene': 'TMEM206', 'score': 20.98}, {'connected_gene': 'LOC105372907', 'score': 11.73}, {'connected_gene': 'ATF3', 'score': 10.82}, {'connected_gene': 'ENSG00000212187', 'score': 10.35}, {'connected_gene': 'BATF3', 'score': 9.98}, {'connected_gene': 'NENF', 'score': 0.34}]
chr1 GH01I212413 212413887 212416275 2.24 [{'connected_gene': 'TMEM206', 'score': 576.3}, {'connected_gene': 'LOC101929541', 'score': 23.28}, {'connected_gene': 'PPP2R5A', 'score': 18.1}, {'connected_gene': 'PIR60492', 'score': 0.23}]
chr1 GH01I212274 212274117 212274390 0.22 [{'connected_gene': 'TMEM206', 'score': 21.37}, {'connected_gene': 'LOC101929541', 'score': 0.39}, {'connected_gene': 'GC01P212241', 'score': 0.29}]
chr1 GH01I212539 212539886 212540517 0.43 [{'connected_gene': 'ATF3', 'score': 12.46}, {'connected_gene': 'BATF3', 'score': 11.42}, {'connected_gene': 'TMEM206', 'score': 10.5}, {'connected_gene': 'LINC01740', 'score': 0.44}, {'connected_gene': 'LOC105372908', 'score': 0.31}]
chr1 GH01I212593 212593839 212593988 0.54 [{'connected_gene': 'ATF3', 'score': 12.09}, {'connected_gene': 'BATF3', 'score': 10.37}, {'connected_gene': 'TMEM206', 'score': 9.75}, {'connected_gene': 'GC01M212615', 'score': 0.34}]
chr1 GH01I212469 212469639 212470921 1.23 [{'connected_gene': 'NENF', 'score': 12.1}, {'connected_gene': 'FAM71A', 'score': 11.48}, {'connected_gene': 'ENSG00000235862', 'score': 11.48}, {'connected_gene': 'ATF3', 'score': 11.41}, {'connected_gene': 'TMEM206', 'score': 11.17}, {'connected_gene': 'BATF3', 'score': 10.93}, {'connected_gene': 'LOC105372907', 'score': 10.52}, {'connected_gene': 'ENSG00000212187', 'score': 9.83}, {'connected_gene': 'VASH2', 'score': 9.66}]
chr1 GH01I212430 212430081 212434264 2.19 [{'connected_gene': 'NENF', 'score': 550.77}, {'connected_gene': 'LOC105372906', 'score': 550.77}, {'connected_gene': 'LOC101929541', 'score': 32.97}, {'connected_gene': 'TMEM206', 'score': 20.27}, {'connected_gene': 'PPP2R5A', 'score': 15.39}, {'connected_gene': 'DTL', 'score': 10.0}, {'connected_gene': 'INTS7', 'score': 10.0}, {'connected_gene': 'ENSG00000212187', 'score': 9.55}, {'connected_gene': 'BATF3', 'score': 9.39}]
chr1 GH01I212449 212449950 212451903 0.74 [{'connected_gene': 'NENF', 'score': 8.96}, {'connected_gene': 'LINC01740', 'score': 8.78}, {'connected_gene': 'TMEM206', 'score': 4.99}, {'connected_gene': 'LOC105372907', 'score': 0.34}]
chr1 GH01I212512 212512773 212515790 1.12 [{'connected_gene': 'LOC105372908', 'score': 550.77}, {'connected_gene': 'LOC105372907', 'score': 13.73}, {'connected_gene': 'TMEM206', 'score': 4.65}, {'connected_gene': 'ENSG00000260805', 'score': 4.41}]
chr1 GH01I212466 212466310 212468400 1.03 [{'connected_gene': 'LOC105372907', 'score': 16.16}, {'connected_gene': 'TMEM206', 'score': 11.17}, {'connected_gene': 'ATF3', 'score': 11.04}, {'connected_gene': 'BATF3', 'score': 10.8}, {'connected_gene': 'NENF', 'score': 0.29}]
chr1 GH01I212517 212517831 212519873 1.03 [{'connected_gene': 'LOC105372907', 'score': 7.46}, {'connected_gene': 'TMEM206', 'score': 4.37}, {'connected_gene': 'LOC105372908', 'score': 0.77}, {'connected_gene': 'LINC01740', 'score': 0.31}]
chr1 GH01I212506 212506764 212508137 0.38 [{'connected_gene': 'LOC105372907', 'score': 15.69}, {'connected_gene': 'ATF3', 'score': 11.62}, {'connected_gene': 'BATF3', 'score': 10.36}, {'connected_gene': 'TMEM206', 'score': 10.31}, {'connected_gene': 'ENSG00000260805', 'score': 5.61}, {'connected_gene': 'LOC105372908', 'score': 0.44}]
chr1 GH01I212497 212497819 212498942 0.92 [{'connected_gene': 'LOC105372907', 'score': 39.5}, {'connected_gene': 'ATF3', 'score': 11.3}, {'connected_gene': 'NENF', 'score': 11.2}, {'connected_gene': 'BATF3', 'score': 10.15}, {'connected_gene': 'TMEM206', 'score': 9.84}, {'connected_gene': 'LOC105372908', 'score': 0.37}]
chr1 GH01I212476 212476947 212478598 1.59 [{'connected_gene': 'LOC105372907', 'score': 42.52}, {'connected_gene': 'ATF3', 'score': 27.74}, {'connected_gene': 'NENF', 'score': 11.92}, {'connected_gene': 'FAM71A', 'score': 11.49}, {'connected_gene': 'ENSG00000235862', 'score': 11.49}, {'connected_gene': 'BATF3', 'score': 10.93}, {'connected_gene': 'TMEM206', 'score': 10.31}, {'connected_gene': 'RPL21P28', 'score': 10.09}, {'connected_gene': 'ENSG00000212187', 'score': 9.83}, {'connected_gene': 'VASH2', 'score': 9.66}, {'connected_gene': 'LOC105372908', 'score': 0.28}]
chr1 GH01I212474 212474174 212475868 0.46 [{'connected_gene': 'LOC105372907', 'score': 16.09}, {'connected_gene': 'NENF', 'score': 11.92}, {'connected_gene': 'FAM71A', 'score': 11.49}, {'connected_gene': 'ENSG00000235862', 'score': 11.48}, {'connected_gene': 'ATF3', 'score': 11.42}, {'connected_gene': 'BATF3', 'score': 10.93}, {'connected_gene': 'TMEM206', 'score': 10.32}, {'connected_gene': 'ENSG00000212187', 'score': 9.83}, {'connected_gene': 'VASH2', 'score': 9.66}, {'connected_gene': 'ENSG00000260805', 'score': 5.54}, {'connected_gene': 'LOC105372908', 'score': 0.28}]
chr1 GH01I212471 212471244 212473023 0.31 [{'connected_gene': 'LOC105372907', 'score': 598.66}, {'connected_gene': 'NENF', 'score': 11.93}, {'connected_gene': 'FAM71A', 'score': 11.48}, {'connected_gene': 'ENSG00000235862', 'score': 11.48}, {'connected_gene': 'ATF3', 'score': 11.42}, {'connected_gene': 'BATF3', 'score': 10.93}, {'connected_gene': 'TMEM206', 'score': 10.32}, {'connected_gene': 'ENSG00000212187', 'score': 9.83}, {'connected_gene': 'VASH2', 'score': 9.66}]
chr1 GH01I211698 211698201 211699400 1.2 [{'connected_gene': 'LOC102723727', 'score': 11.75}, {'connected_gene': 'LPGAT1', 'score': 11.47}, {'connected_gene': 'ENSG00000212187', 'score': 10.41}, {'connected_gene': 'TMEM206', 'score': 10.28}, {'connected_gene': 'PIR53316', 'score': 0.39}, {'connected_gene': 'LOC91548', 'score': 0.34}, {'connected_gene': 'LOC105372904', 'score': 0.31}]
chr1 GH01I211697 211697295 211698148 0.72 [{'connected_gene': 'LOC102723727', 'score': 11.75}, {'connected_gene': 'LPGAT1', 'score': 11.47}, {'connected_gene': 'ENSG00000212187', 'score': 11.05}, {'connected_gene': 'TMEM206', 'score': 10.28}, {'connected_gene': 'PIR53316', 'score': 0.39}, {'connected_gene': 'LOC91548', 'score': 0.34}, {'connected_gene': 'LOC105372904', 'score': 0.31}]
chr1 GH01I211749 211749783 211750541 0.31 [{'connected_gene': 'LOC102723727', 'score': 10.98}, {'connected_gene': 'LPGAT1', 'score': 10.97}, {'connected_gene': 'ENSG00000212187', 'score': 9.9}, {'connected_gene': 'TMEM206', 'score': 5.05}, {'connected_gene': 'PIR57135', 'score': 0.77}, {'connected_gene': 'PIR47428', 'score': 0.34}]
chr1 GH01I212254 212254013 212257599 1.58 [{'connected_gene': 'LOC101929541', 'score': 40.28}, {'connected_gene': 'PPP2R5A', 'score': 27.28}, {'connected_gene': 'TMEM206', 'score': 5.19}, {'connected_gene': 'LPGAT1', 'score': 4.08}, {'connected_gene': 'ATF3', 'score': 1.15}, {'connected_gene': 'GC01P212241', 'score': 0.39}]
chr1 GH01I212283 212283753 212288119 2.53 [{'connected_gene': 'LOC101929541', 'score': 599.55}, {'connected_gene': 'PPP2R5A', 'score': 569.49}, {'connected_gene': 'TMEM206', 'score': 21.28}, {'connected_gene': 'INTS7', 'score': 1.25}, {'connected_gene': 'ENSG00000230063', 'score': 0.39}]
chr1 GH01I212178 212178901 212180643 0.77 [{'connected_gene': 'LOC101929541', 'score': 17.06}, {'connected_gene': 'PPP2R5A', 'score': 15.67}, {'connected_gene': 'TMEM206', 'score': 4.35}, {'connected_gene': 'ENSG00000229983', 'score': 0.39}, {'connected_gene': 'GC01M212205', 'score': 0.31}]
chr1 GH01I212234 212234130 212239721 1.38 [{'connected_gene': 'LOC101929541', 'score': 17.92}, {'connected_gene': 'TMEM206', 'score': 15.24}, {'connected_gene': 'RCOR3', 'score': 12.15}, {'connected_gene': 'RPL21P28', 'score': 10.14}, {'connected_gene': 'GC01P212241', 'score': 0.77}, {'connected_gene': 'GC01M212205', 'score': 0.29}]
chr1 GH01I212290 212290601 212291788 1.29 [{'connected_gene': 'LOC101929541', 'score': 37.58}, {'connected_gene': 'TMEM206', 'score': 6.32}, {'connected_gene': 'PPP2R5A', 'score': 0.44}, {'connected_gene': 'ENSG00000230063', 'score': 0.44}]
chr1 GH01I212077 212077139 212077288 0.62 [{'connected_gene': 'MIR3122', 'score': 550.77}, {'connected_gene': 'INTS7', 'score': 19.2}, {'connected_gene': 'DTL', 'score': 10.78}, {'connected_gene': 'TMEM206', 'score': 9.73}, {'connected_gene': 'RPL21P28', 'score': 0.31}]
chr1 GH01I212241 212241420 212243400 1.41 [{'connected_gene': 'GC01P212241', 'score': 550.77}, {'connected_gene': 'LOC101929541', 'score': 38.61}, {'connected_gene': 'ENSG00000212187', 'score': 10.17}, {'connected_gene': 'TMEM206', 'score': 5.17}]

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