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
ENST00000278886 [[25433340, 25434278], [25436308, 25436422], [25439018, 25439165], [25442157, 25442271], [25443018, 25443177], [25448024, 25448094], [25450626, 25450731], [25456678, 25457725], [25459558, 25459842], [25460796, 25460903], [25462603, 25462736], [25469879, 25469960], [25470510, 25470621], [25471986, 25472161], [25477298, 25477439], [25478845, 25478982], [25481475, 25481646], [25484587, 25484740], [25485523, 25485714], [25491309, 25491376], [25493469, 25493642], [25498388, 25498485], [25507043, 25507234], [25566090, 25566153]] [[25434086, 25434278], [25436308, 25436422], [25439018, 25439165], [25442157, 25442271], [25443018, 25443177], [25448024, 25448094], [25450626, 25450731], [25456678, 25457725], [25459558, 25459842], [25460796, 25460903], [25462603, 25462736], [25469879, 25469960], [25470510, 25470621], [25471986, 25472161], [25477298, 25477439], [25478845, 25478982], [25481475, 25481646], [25484587, 25484740], [25485523, 25485714], [25491309, 25491376], [25493469, 25493642], [25498388, 25498485], [25507043, 25507223]]
ENST00000422516 [[25433340, 25434278], [25436308, 25436422], [25439018, 25439165], [25442157, 25442271], [25443018, 25443177], [25448024, 25448094], [25450626, 25450731], [25459558, 25459842], [25460796, 25460903], [25462603, 25462736], [25469879, 25469960], [25470510, 25470621], [25471986, 25472161], [25477298, 25477439], [25478845, 25478982], [25481475, 25481646], [25484587, 25484740], [25485523, 25485714], [25491309, 25491376], [25493469, 25493642], [25498388, 25498485], [25507043, 25507234], [25566090, 25566153]] [[25434086, 25434278], [25436308, 25436422], [25439018, 25439165], [25442157, 25442271], [25443018, 25443177], [25448024, 25448094], [25450626, 25450731], [25459558, 25459842], [25460796, 25460903], [25462603, 25462736], [25469879, 25469960], [25470510, 25470621], [25471986, 25472161], [25477298, 25477439], [25478845, 25478982], [25481475, 25481646], [25484587, 25484740], [25485523, 25485714], [25491309, 25491376], [25493469, 25493642], [25498388, 25498485], [25507043, 25507223]]
ENST00000464285 [[25433472, 25434278], [25436308, 25436422], [25439018, 25439612]] None
ENST00000496509 [[25436308, 25436422], [25439018, 25439165], [25442157, 25442271], [25443018, 25443378]] None
ENST00000336104 [[25443018, 25443177], [25448024, 25448094], [25450626, 25450731], [25459558, 25459663]] [[25443018, 25443177], [25448024, 25448094], [25450626, 25450731], [25459558, 25459663]]
ENST00000489780 [[25462473, 25462736], [25469879, 25469960], [25470510, 25470621], [25471986, 25472161]] None
ENST00000461642 [[25469618, 25469960], [25470510, 25470621], [25477298, 25477439]] None
NM_025176 [[25433332, 25434278], [25436308, 25436422], [25439018, 25439165], [25442157, 25442271], [25443018, 25443177], [25448024, 25448094], [25450626, 25450731], [25456678, 25457725], [25459558, 25459842], [25460796, 25460903], [25462603, 25462736], [25469879, 25469960], [25470510, 25470621], [25471986, 25472161], [25477298, 25477439], [25478845, 25478982], [25481475, 25481646], [25484587, 25484740], [25485523, 25485714], [25491309, 25491376], [25493469, 25493642], [25498388, 25498485], [25507043, 25507234], [25566090, 25566167]] [[25434086, 25434278], [25436308, 25436422], [25439018, 25439165], [25442157, 25442271], [25443018, 25443177], [25448024, 25448094], [25450626, 25450731], [25456678, 25457725], [25459558, 25459842], [25460796, 25460903], [25462603, 25462736], [25469879, 25469960], [25470510, 25470621], [25471986, 25472161], [25477298, 25477439], [25478845, 25478982], [25481475, 25481646], [25484587, 25484740], [25485523, 25485714], [25491309, 25491376], [25493469, 25493642], [25498388, 25498485], [25507043, 25507223]]
NM_001318226 [[25433332, 25434278], [25436308, 25436422], [25439018, 25439165], [25442157, 25442271], [25443018, 25443177], [25448024, 25448094], [25450626, 25450731], [25459558, 25459842], [25460796, 25460903], [25462603, 25462736], [25469879, 25469960], [25470510, 25470621], [25471986, 25472161], [25477298, 25477439], [25478845, 25478982], [25481475, 25481646], [25484587, 25484740], [25485523, 25485714], [25491309, 25491376], [25493469, 25493642], [25498388, 25498485], [25507043, 25507234], [25566090, 25566167]] [[25434086, 25434278], [25436308, 25436422], [25439018, 25439165], [25442157, 25442271], [25443018, 25443177], [25448024, 25448094], [25450626, 25450731], [25459558, 25459842], [25460796, 25460903], [25462603, 25462736], [25469879, 25469960], [25470510, 25470621], [25471986, 25472161], [25477298, 25477439], [25478845, 25478982], [25481475, 25481646], [25484587, 25484740], [25485523, 25485714], [25491309, 25491376], [25493469, 25493642], [25498388, 25498485], [25507043, 25507223]]
Promoter
Chrom Start End Description
chr20 25520974 25520986 CAGE_peak_6_at_NINL_5end
chr20 25520997 25521023 CAGE_peak_2_at_NINL_5end
chr20 25521032 25521049 CAGE_peak_4_at_NINL_5end
chr20 25521435 25521445 CAGE_peak_8_at_NINL_5end
chr20 25566158 25566211 CAGE_peak_1_at_NINL_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I025194 25194657 25198084 2.23 [{'connected_gene': 'ENTPD6', 'score': 562.83}, {'connected_gene': 'LOC101926889', 'score': 550.77}, {'connected_gene': 'PYGB', 'score': 31.27}, {'connected_gene': 'FAM182B', 'score': 16.63}, {'connected_gene': 'NINL', 'score': 13.28}, {'connected_gene': 'ABHD12', 'score': 12.27}, {'connected_gene': 'ACSS1', 'score': 11.31}, {'connected_gene': 'VN1R108P', 'score': 9.8}, {'connected_gene': 'VSX1', 'score': 7.83}, {'connected_gene': 'CST7', 'score': 5.21}]
chr20 GH20I024994 24994465 24995514 1.27 [{'connected_gene': 'CST7', 'score': 18.95}, {'connected_gene': 'ZNF337', 'score': 15.75}, {'connected_gene': 'NINL', 'score': 10.09}, {'connected_gene': 'APMAP', 'score': 8.29}, {'connected_gene': 'PIR53263', 'score': 0.26}]
chr20 GH20I025051 25051671 25060101 2.4 [{'connected_gene': 'ACSS1', 'score': 558.24}, {'connected_gene': 'VSX1', 'score': 11.47}, {'connected_gene': 'CST7', 'score': 7.78}, {'connected_gene': 'ENTPD6', 'score': 6.63}, {'connected_gene': 'FAM182B', 'score': 5.53}, {'connected_gene': 'ZNF337', 'score': 5.25}, {'connected_gene': 'NINL', 'score': 4.02}, {'connected_gene': 'PIR53263', 'score': 0.37}]
chr20 GH20I025987 25987001 25987600 0.7 [{'connected_gene': 'FAM182B', 'score': 49.5}, {'connected_gene': 'NINL', 'score': 4.49}, {'connected_gene': 'PIR33096', 'score': 0.77}, {'connected_gene': 'LINC01733', 'score': 0.29}]
chr20 GH20I025535 25535676 25536242 0.2 [{'connected_gene': 'FAM182B', 'score': 8.54}, {'connected_gene': 'GC20P025533', 'score': 0.77}, {'connected_gene': 'PIR48473', 'score': 0.39}, {'connected_gene': 'NINL', 'score': 0.25}]
chr20 GH20I025503 25503610 25504861 0.31 [{'connected_gene': 'ZNF337', 'score': 13.95}, {'connected_gene': 'ABHD12', 'score': 4.39}, {'connected_gene': 'ENSG00000231081', 'score': 3.52}, {'connected_gene': 'GC20P025489', 'score': 0.37}, {'connected_gene': 'GC20P025533', 'score': 0.31}, {'connected_gene': 'NINL', 'score': 0.18}]
chr20 GH20I025497 25497125 25497274 0.76 [{'connected_gene': 'ZNF337', 'score': 13.36}, {'connected_gene': 'ABHD12', 'score': 4.49}, {'connected_gene': 'GC20P025489', 'score': 0.44}, {'connected_gene': 'GC20P025533', 'score': 0.28}, {'connected_gene': 'NINL', 'score': 0.17}]
chr20 GH20I025529 25529457 25530395 0.31 [{'connected_gene': 'ZNF337', 'score': 13.31}, {'connected_gene': 'NINL', 'score': 10.81}, {'connected_gene': 'NANP', 'score': 10.43}, {'connected_gene': 'ZNF337-AS1', 'score': 10.43}, {'connected_gene': 'GC20P025533', 'score': 0.77}, {'connected_gene': 'GC20P025489', 'score': 0.26}]
chr20 GH20I025543 25543165 25543552 0.69 [{'connected_gene': 'ZNF337', 'score': 13.53}, {'connected_gene': 'NINL', 'score': 12.86}, {'connected_gene': 'RNU6ATAC17P', 'score': 10.72}, {'connected_gene': 'PIR48473', 'score': 0.77}, {'connected_gene': 'GC20P025533', 'score': 0.39}]
chr20 GH20I025571 25571021 25572239 0.52 [{'connected_gene': 'ZNF337', 'score': 13.48}, {'connected_gene': 'NINL', 'score': 0.39}, {'connected_gene': 'PIR54986', 'score': 0.39}, {'connected_gene': 'PIR44041', 'score': 0.37}]
chr20 GH20I025573 25573352 25574709 0.57 [{'connected_gene': 'ZNF337', 'score': 13.55}, {'connected_gene': 'NINL', 'score': 0.39}, {'connected_gene': 'PIR54986', 'score': 0.39}, {'connected_gene': 'PIR44041', 'score': 0.37}]
chr20 GH20I025375 25375132 25379927 0.87 [{'connected_gene': 'ABHD12', 'score': 39.42}, {'connected_gene': 'PYGB', 'score': 31.22}, {'connected_gene': 'GINS1', 'score': 13.33}, {'connected_gene': 'NINL', 'score': 11.87}, {'connected_gene': 'ZNF337', 'score': 10.38}, {'connected_gene': 'PPIAP2', 'score': 0.44}]
chr20 GH20I025464 25464401 25465833 0.97 [{'connected_gene': 'ABHD12', 'score': 45.89}, {'connected_gene': 'PYGB', 'score': 20.39}, {'connected_gene': 'ACSS1', 'score': 5.84}, {'connected_gene': 'GC20P025489', 'score': 0.34}, {'connected_gene': 'PIR61820', 'score': 0.29}, {'connected_gene': 'NINL', 'score': 0.13}]
chr20 GH20I025484 25484205 25486207 0.66 [{'connected_gene': 'ABHD12', 'score': 33.78}, {'connected_gene': 'PYGB', 'score': 13.11}, {'connected_gene': 'FAM182B', 'score': 6.25}, {'connected_gene': 'GC20P025489', 'score': 0.77}, {'connected_gene': 'PIR61820', 'score': 0.23}, {'connected_gene': 'NINL', 'score': 0.15}]
chr20 GH20I025301 25301016 25302805 0.38 [{'connected_gene': 'ABHD12', 'score': 36.02}, {'connected_gene': 'PYGB', 'score': 31.86}, {'connected_gene': 'NINL', 'score': 11.86}, {'connected_gene': 'FAM182B', 'score': 4.36}, {'connected_gene': 'GC20P025297', 'score': 0.77}, {'connected_gene': 'GC20P025348', 'score': 0.25}]
chr20 GH20I025360 25360456 25362199 0.85 [{'connected_gene': 'ABHD12', 'score': 33.92}, {'connected_gene': 'PYGB', 'score': 29.91}, {'connected_gene': 'NINL', 'score': 11.86}, {'connected_gene': 'ZNF337-AS1', 'score': 4.26}, {'connected_gene': 'GC20M025368', 'score': 0.44}, {'connected_gene': 'GC20P025348', 'score': 0.39}]
chr20 GH20I025506 25506389 25510020 1.17 [{'connected_gene': 'ABHD12', 'score': 36.36}, {'connected_gene': 'ZNF337', 'score': 13.3}, {'connected_gene': 'ENTPD6', 'score': 11.27}, {'connected_gene': 'GC20P025489', 'score': 0.37}, {'connected_gene': 'GC20P025533', 'score': 0.34}, {'connected_gene': 'NINL', 'score': 0.18}]
chr20 GH20I025525 25525001 25527086 1.26 [{'connected_gene': 'ABHD12', 'score': 24.15}, {'connected_gene': 'ZNF337', 'score': 13.36}, {'connected_gene': 'ENTPD6', 'score': 11.47}, {'connected_gene': 'RNU6ATAC17P', 'score': 11.25}, {'connected_gene': 'NANP', 'score': 10.11}, {'connected_gene': 'ZNF337-AS1', 'score': 10.11}, {'connected_gene': 'GC20P025533', 'score': 0.44}, {'connected_gene': 'GC20P025489', 'score': 0.28}, {'connected_gene': 'NINL', 'score': 0.22}]
chr20 GH20I025541 25541707 25543000 1 [{'connected_gene': 'ABHD12', 'score': 15.12}, {'connected_gene': 'ZNF337', 'score': 13.92}, {'connected_gene': 'NINL', 'score': 12.86}, {'connected_gene': 'RNU6ATAC17P', 'score': 10.72}, {'connected_gene': 'FAM182B', 'score': 6.25}, {'connected_gene': 'PIR48473', 'score': 0.44}, {'connected_gene': 'GC20P025533', 'score': 0.44}]
chr20 GH20I025544 25544222 25546233 0.49 [{'connected_gene': 'ABHD12', 'score': 36.99}, {'connected_gene': 'NINL', 'score': 13.39}, {'connected_gene': 'RNU6ATAC17P', 'score': 10.75}, {'connected_gene': 'PYGB', 'score': 6.33}, {'connected_gene': 'PIR48473', 'score': 0.77}, {'connected_gene': 'GC20P025533', 'score': 0.39}]
chr20 GH20I025460 25460601 25462124 0.51 [{'connected_gene': 'ABHD12', 'score': 37.89}, {'connected_gene': 'NANP', 'score': 4.89}, {'connected_gene': 'GC20P025489', 'score': 0.31}, {'connected_gene': 'PIR61820', 'score': 0.29}, {'connected_gene': 'NINL', 'score': 0.13}]
chr20 GH20I025584 25584153 25586174 1.93 [{'connected_gene': 'NINL', 'score': 563.15}, {'connected_gene': 'PIR54986', 'score': 550.77}, {'connected_gene': 'PYGB', 'score': 21.53}, {'connected_gene': 'ZNF337', 'score': 14.33}, {'connected_gene': 'FAM182A', 'score': 9.24}, {'connected_gene': 'FAM182B', 'score': 5.45}]
chr20 GH20I025538 25538760 25541425 1.84 [{'connected_gene': 'NINL', 'score': 560.83}, {'connected_gene': 'ABHD12', 'score': 37.27}, {'connected_gene': 'ZNF337', 'score': 13.53}, {'connected_gene': 'FAM182B', 'score': 10.84}, {'connected_gene': 'RNU6ATAC17P', 'score': 10.27}, {'connected_gene': 'ZNF337-AS1', 'score': 4.07}, {'connected_gene': 'PIR48473', 'score': 0.44}, {'connected_gene': 'GC20P025533', 'score': 0.44}]
chr20 GH20I025545 25543665 25543874 0.67 [{'connected_gene': 'NINL', 'score': 12.86}, {'connected_gene': 'RNU6ATAC17P', 'score': 10.72}, {'connected_gene': 'NANP', 'score': 5.25}, {'connected_gene': 'PIR48473', 'score': 0.77}, {'connected_gene': 'GC20P025533', 'score': 0.39}]
chr20 GH20I025622 25622226 25625134 2.29 [{'connected_gene': 'NANP', 'score': 564.03}, {'connected_gene': 'ZNF337-AS1', 'score': 562.72}, {'connected_gene': 'ZNF337', 'score': 25.9}, {'connected_gene': 'NINL', 'score': 20.31}, {'connected_gene': 'VN1R108P', 'score': 10.04}, {'connected_gene': 'FAM182B', 'score': 5.5}, {'connected_gene': 'RNU6ATAC17P', 'score': 0.39}]
chr20 GH20I025232 25232639 25240401 1.8 [{'connected_gene': 'LOC105372579', 'score': 550.77}, {'connected_gene': 'ABHD12', 'score': 37.53}, {'connected_gene': 'ZNF337', 'score': 24.15}, {'connected_gene': 'ZNF337-AS1', 'score': 23.55}, {'connected_gene': 'NANP', 'score': 19.6}, {'connected_gene': 'PYGB', 'score': 18.76}, {'connected_gene': 'NINL', 'score': 12.21}, {'connected_gene': 'ENTPD6', 'score': 11.76}, {'connected_gene': 'FAM182B', 'score': 8.07}, {'connected_gene': 'FAM182A', 'score': 3.96}, {'connected_gene': 'LOC100134868', 'score': 3.75}, {'connected_gene': 'ENSG00000277938', 'score': 0.44}, {'connected_gene': 'LOC105372580', 'score': 0.39}]
chr20 GH20I026009 26009102 26011401 1.48 [{'connected_gene': 'LOC100134868', 'score': 550.77}, {'connected_gene': 'ENSG00000231081', 'score': 550.77}, {'connected_gene': 'FAM182B', 'score': 36.58}, {'connected_gene': 'NANP', 'score': 19.15}, {'connected_gene': 'ABHD12', 'score': 12.25}, {'connected_gene': 'NINL', 'score': 4.49}, {'connected_gene': 'ZNF337', 'score': 3.76}, {'connected_gene': 'GC20P025998', 'score': 0.39}]
chr20 GH20I025259 25259640 25260795 0.4 [{'connected_gene': 'PIR44667', 'score': 550.77}, {'connected_gene': 'PYGB', 'score': 36.5}, {'connected_gene': 'NINL', 'score': 5.26}, {'connected_gene': 'ENSG00000276952', 'score': 0.31}]
chr20 GH20I025225 25225361 25228000 1.29 [{'connected_gene': 'ENSG00000279322', 'score': 550.77}, {'connected_gene': 'ABHD12', 'score': 35.51}, {'connected_gene': 'PYGB', 'score': 32.44}, {'connected_gene': 'ENTPD6', 'score': 11.39}, {'connected_gene': 'FAM182A', 'score': 3.88}, {'connected_gene': 'NINL', 'score': 3.71}, {'connected_gene': 'ENSG00000202414', 'score': 0.39}]
chr20 GH20I025531 25531686 25535289 0.96 [{'connected_gene': 'GC20P025533', 'score': 550.77}, {'connected_gene': 'ABHD12', 'score': 22.6}, {'connected_gene': 'PYGB', 'score': 19.32}, {'connected_gene': 'ZNF337', 'score': 13.31}, {'connected_gene': 'NINL', 'score': 12.04}, {'connected_gene': 'NANP', 'score': 10.43}, {'connected_gene': 'ZNF337-AS1', 'score': 10.43}, {'connected_gene': 'PIR48473', 'score': 0.39}]
chr20 GH20I025293 25293464 25298147 1.35 [{'connected_gene': 'PIR57709', 'score': 550.77}, {'connected_gene': 'GC20P025297', 'score': 550.77}, {'connected_gene': 'PIR34275', 'score': 550.77}, {'connected_gene': 'ABHD12', 'score': 39.18}, {'connected_gene': 'PYGB', 'score': 20.61}, {'connected_gene': 'ZNF337', 'score': 10.37}, {'connected_gene': 'NINL', 'score': 9.86}, {'connected_gene': 'ZNF337-AS1', 'score': 7.03}, {'connected_gene': 'PIR48093', 'score': 0.44}]
chr20 GH20I025489 25489181 25491124 0.31 [{'connected_gene': 'GC20P025489', 'score': 550.77}, {'connected_gene': 'ABHD12', 'score': 32.52}, {'connected_gene': 'PYGB', 'score': 19.76}, {'connected_gene': 'ZNF337', 'score': 12.17}, {'connected_gene': 'ENSG00000231081', 'score': 3.52}, {'connected_gene': 'GC20P025533', 'score': 0.26}, {'connected_gene': 'NINL', 'score': 0.15}]
chr20 GH20I025553 25553597 25554354 0.75 [{'connected_gene': 'PIR44041', 'score': 550.77}, {'connected_gene': 'ABHD12', 'score': 32.47}, {'connected_gene': 'ZNF337', 'score': 13.54}, {'connected_gene': 'ENTPD6', 'score': 8.83}, {'connected_gene': 'PIR43236', 'score': 0.77}, {'connected_gene': 'NINL', 'score': 0.29}]
chr20 GH20I025548 25548575 25552103 1.13 [{'connected_gene': 'PIR43236', 'score': 550.77}, {'connected_gene': 'ABHD12', 'score': 32.47}, {'connected_gene': 'ZNF337', 'score': 13.54}, {'connected_gene': 'RNU6ATAC17P', 'score': 10.79}, {'connected_gene': 'NANP', 'score': 10.46}, {'connected_gene': 'ZNF337-AS1', 'score': 10.46}, {'connected_gene': 'FAM182B', 'score': 6.25}, {'connected_gene': 'PIR44041', 'score': 0.44}, {'connected_gene': 'NINL', 'score': 0.28}]
chr20 GH20I025470 25470125 25470314 0.57 [{'connected_gene': 'GC20P025489', 'score': 0.37}, {'connected_gene': 'PIR61820', 'score': 0.28}, {'connected_gene': 'NINL', 'score': 0.13}]

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