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
ENST00000366971 [[213031596, 213032532], [213037066, 213037211], [213046019, 213046160], [213056712, 213056780], [213058634, 213058738], [213061232, 213061343], [213061830, 213061936], [213062487, 213062599], [213068327, 213068395], [213068557, 213072705]] [[213031794, 213032532], [213037066, 213037211], [213046019, 213046160], [213056712, 213056780], [213058634, 213058738], [213061232, 213061343], [213061830, 213061936], [213062487, 213062599], [213068327, 213068395], [213068557, 213068632]]
ENST00000419102 [[213032257, 213032532], [213037066, 213037211], [213056712, 213056780], [213058634, 213058738], [213061232, 213061343], [213061830, 213061936], [213062487, 213062599], [213068327, 213068395], [213068557, 213068676]] [[213032257, 213032532], [213037066, 213037211], [213056712, 213056780], [213058634, 213058738], [213061232, 213061343], [213061830, 213061936], [213062487, 213062599], [213068327, 213068395], [213068557, 213068632]]
ENST00000579295 [[213036972, 213037211], [213037734, 213037861], [213043395, 213043508]] None
ENST00000474693 [[213037753, 213037861], [213046019, 213046160], [213056712, 213056780], [213058634, 213058907]] None
ENST00000483790 [[213056750, 213056780], [213058634, 213058738], [213061830, 213061936], [213062487, 213062599], [213068327, 213068395], [213068557, 213068736]] None
NM_014053 [[213031596, 213032532], [213037066, 213037211], [213046019, 213046160], [213056712, 213056780], [213058634, 213058738], [213061232, 213061343], [213061830, 213061936], [213062487, 213062599], [213068327, 213068395], [213068557, 213072705]] [[213031794, 213032532], [213037066, 213037211], [213046019, 213046160], [213056712, 213056780], [213058634, 213058738], [213061232, 213061343], [213061830, 213061936], [213062487, 213062599], [213068327, 213068395], [213068557, 213068632]]
Promoter
Chrom Start End Description
chr1 213031570 213031595 CAGE_peak_2_at_FLVCR1_5end
chr1 213031609 213031635 CAGE_peak_1_at_FLVCR1_5end
chr1 213031644 213031658 CAGE_peak_3_at_FLVCR1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
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 GH01I212995 212995599 212995728 0.79 [{'connected_gene': 'VASH2', 'score': 11.43}, {'connected_gene': 'FLVCR1-AS1', 'score': 11.18}, {'connected_gene': 'FLVCR1', 'score': 11.18}, {'connected_gene': 'ENSG00000235182', 'score': 11.17}, {'connected_gene': 'RPS28P2', 'score': 11.17}, {'connected_gene': 'BATF3', 'score': 10.67}, {'connected_gene': 'ANGEL2', '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 GH01I212856 212856786 212861251 2.11 [{'connected_gene': 'FLVCR1-AS1', 'score': 631.46}, {'connected_gene': 'FLVCR1', 'score': 573.98}, {'connected_gene': 'ANGEL2', 'score': 11.49}, {'connected_gene': 'TATDN3', 'score': 10.98}, {'connected_gene': 'SPATA45', 'score': 10.95}, {'connected_gene': 'GC01M212767', 'score': 0.77}, {'connected_gene': 'GC01P212844', 'score': 0.37}]
chr1 GH01I212832 212832632 212834793 0.67 [{'connected_gene': 'FLVCR1-AS1', 'score': 32.92}, {'connected_gene': 'FLVCR1', 'score': 12.53}, {'connected_gene': 'RPS28P2', 'score': 12.53}, {'connected_gene': 'TATDN3', 'score': 11.21}, {'connected_gene': 'VASH2', 'score': 10.29}, {'connected_gene': 'SPATA45', 'score': 7.54}, {'connected_gene': 'NSL1', 'score': 5.14}, {'connected_gene': 'GC01P212844', 'score': 0.44}, {'connected_gene': 'GC01P212825', 'score': 0.44}, {'connected_gene': 'GC01M212767', 'score': 0.31}]
chr1 GH01I212793 212793823 212795234 1.19 [{'connected_gene': 'FLVCR1-AS1', 'score': 21.51}, {'connected_gene': 'TATDN3', 'score': 18.87}, {'connected_gene': 'FLVCR1', 'score': 15.22}, {'connected_gene': 'SPATA45', 'score': 10.79}, {'connected_gene': 'RPS5P4', 'score': 0.31}, {'connected_gene': 'GC01M212767', 'score': 0.2}]
chr1 GH01I212906 212906642 212910792 0.88 [{'connected_gene': 'FLVCR1-AS1', 'score': 41.89}, {'connected_gene': 'TATDN3', 'score': 10.67}, {'connected_gene': 'FLVCR1', 'score': 8.78}, {'connected_gene': 'SPATA45', 'score': 8.29}, {'connected_gene': 'ENSG00000282718', 'score': 0.44}, {'connected_gene': 'GC01M212767', 'score': 0.25}, {'connected_gene': 'GC01P212844', 'score': 0.2}]
chr1 GH01I212831 212831801 212832200 0.54 [{'connected_gene': 'FLVCR1-AS1', 'score': 34.24}, {'connected_gene': 'ENSG00000235182', 'score': 13.38}, {'connected_gene': 'RPS28P2', 'score': 13.38}, {'connected_gene': 'FLVCR1', 'score': 13.35}, {'connected_gene': 'VASH2', 'score': 10.78}, {'connected_gene': 'BATF3', 'score': 10.54}, {'connected_gene': 'GC01P212825', 'score': 0.44}, {'connected_gene': 'GC01P212844', 'score': 0.39}, {'connected_gene': 'SPATA45', 'score': 0.37}, {'connected_gene': 'GC01M212767', 'score': 0.29}]
chr1 GH01I212880 212880075 212880248 0.38 [{'connected_gene': 'FLVCR1-AS1', 'score': 74.3}, {'connected_gene': 'RPS28P2', 'score': 12.52}, {'connected_gene': 'FLVCR1', 'score': 12.52}, {'connected_gene': 'ENSG00000235182', 'score': 12.49}, {'connected_gene': 'VASH2', 'score': 11.04}, {'connected_gene': 'GC01M212767', 'score': 0.37}, {'connected_gene': 'ENSG00000282718', 'score': 0.28}, {'connected_gene': 'GC01P212844', 'score': 0.28}]
chr1 GH01I212819 212819201 212820329 0.97 [{'connected_gene': 'FLVCR1-AS1', 'score': 33.73}, {'connected_gene': 'ENSG00000235182', 'score': 12.65}, {'connected_gene': 'RPS28P2', 'score': 12.64}, {'connected_gene': 'FLVCR1', 'score': 12.64}, {'connected_gene': 'TATDN3', 'score': 11.97}, {'connected_gene': 'VASH2', 'score': 10.93}, {'connected_gene': 'BATF3', 'score': 10.39}, {'connected_gene': 'RPS5P4', 'score': 0.77}, {'connected_gene': 'GC01M212767', 'score': 0.26}]
chr1 GH01I212827 212827039 212829099 0.78 [{'connected_gene': 'FLVCR1-AS1', 'score': 34.72}, {'connected_gene': 'ENSG00000235182', 'score': 13.35}, {'connected_gene': 'RPS28P2', 'score': 13.35}, {'connected_gene': 'FLVCR1', 'score': 13.34}, {'connected_gene': 'TATDN3', 'score': 11.94}, {'connected_gene': 'VASH2', 'score': 10.78}, {'connected_gene': 'BATF3', 'score': 10.56}, {'connected_gene': 'GC01P212825', 'score': 0.77}, {'connected_gene': 'GC01P212844', 'score': 0.37}, {'connected_gene': 'GC01M212767', 'score': 0.29}]
chr1 GH01I212605 212605186 212610401 2.33 [{'connected_gene': 'ATF3', 'score': 562.88}, {'connected_gene': 'ANGEL2', 'score': 20.72}, {'connected_gene': 'FLVCR1', 'score': 11.25}, {'connected_gene': 'BATF3', 'score': 10.93}, {'connected_gene': 'GC01M212615', 'score': 0.44}]
chr1 GH01I212565 212565996 212568199 1.41 [{'connected_gene': 'ATF3', 'score': 550.77}, {'connected_gene': 'ANGEL2', 'score': 16.65}, {'connected_gene': 'FLVCR1', 'score': 10.23}, {'connected_gene': 'GC01M212615', 'score': 0.25}]
chr1 GH01I212899 212899627 212900665 0.31 [{'connected_gene': 'FLVCR1', 'score': 32.13}, {'connected_gene': 'VASH2', 'score': 11.19}, {'connected_gene': 'FLVCR1-AS1', 'score': 8.78}, {'connected_gene': 'ENSG00000282718', 'score': 0.37}, {'connected_gene': 'GC01M212767', 'score': 0.28}, {'connected_gene': 'GC01P212844', 'score': 0.22}]
chr1 GH01I212631 212631991 212633114 0.49 [{'connected_gene': 'FLVCR1', 'score': 4.55}, {'connected_gene': 'LOC105372909', 'score': 0.44}, {'connected_gene': 'ENSG00000235862', 'score': 0.44}, {'connected_gene': 'LOC102723761', 'score': 0.29}]
chr1 GH01I212873 212873099 212873248 0.52 [{'connected_gene': 'FLVCR1', 'score': 33.99}, {'connected_gene': 'GC01M212767', 'score': 0.39}, {'connected_gene': 'GC01P212844', 'score': 0.31}, {'connected_gene': 'ENSG00000282718', 'score': 0.26}]
chr1 GH01I212749 212749439 212750799 1 [{'connected_gene': 'TATDN3', 'score': 20.49}, {'connected_gene': 'SNORA16B', 'score': 15.96}, {'connected_gene': 'BATF3', 'score': 11.86}, {'connected_gene': 'ANGEL2', 'score': 11.45}, {'connected_gene': 'FLVCR1', 'score': 10.96}, {'connected_gene': 'PIR52879', 'score': 0.34}, {'connected_gene': 'NSL1', 'score': 0.26}]
chr1 GH01I212789 212789419 212793774 2.16 [{'connected_gene': 'TATDN3', 'score': 575.92}, {'connected_gene': 'NSL1', 'score': 550.77}, {'connected_gene': 'FLVCR1', 'score': 44.82}, {'connected_gene': 'FLVCR1-AS1', 'score': 33.77}, {'connected_gene': 'ANGEL2', 'score': 30.01}, {'connected_gene': 'RPL21P28', 'score': 20.02}, {'connected_gene': 'ENSG00000235182', 'score': 11.76}, {'connected_gene': 'RPS28P2', 'score': 11.76}, {'connected_gene': 'VASH2', 'score': 11.23}, {'connected_gene': 'BATF3', 'score': 11.13}, {'connected_gene': 'PIR52879', 'score': 0.21}, {'connected_gene': 'GC01M212767', 'score': 0.19}]
chr1 GH01I212228 212228139 212229934 1.12 [{'connected_gene': 'LOC101929541', 'score': 21.24}, {'connected_gene': 'PPP2R5A', 'score': 16.33}, {'connected_gene': 'FLVCR1', 'score': 4.22}, {'connected_gene': 'GC01P212241', 'score': 0.39}, {'connected_gene': 'GC01M212205', 'score': 0.34}]
chr1 GH01I212260 212260423 212262151 1.31 [{'connected_gene': 'LOC101929541', 'score': 40.63}, {'connected_gene': 'PPP2R5A', 'score': 25.56}, {'connected_gene': 'FLVCR1', 'score': 4.29}, {'connected_gene': 'GC01P212241', 'score': 0.37}]
chr1 GH01I212271 212271540 212273078 0.63 [{'connected_gene': 'LOC101929541', 'score': 42.57}, {'connected_gene': 'FLVCR1', 'score': 4.35}, {'connected_gene': 'GC01P212241', 'score': 0.29}]
chr1 GH01I212557 212557540 212562360 2 [{'connected_gene': 'ENSG00000260805', 'score': 557.4}, {'connected_gene': 'GC01M212558', 'score': 550.77}, {'connected_gene': 'ANGEL2', 'score': 11.43}, {'connected_gene': 'FLVCR1', 'score': 10.88}, {'connected_gene': 'ATF3', 'score': 0.44}]
chr1 GH01I212915 212914566 212917377 1.44 [{'connected_gene': 'ENSG00000282718', 'score': 550.77}, {'connected_gene': 'FLVCR1-AS1', 'score': 66.22}, {'connected_gene': 'FLVCR1', 'score': 25.41}, {'connected_gene': 'TATDN3', 'score': 10.83}, {'connected_gene': 'SPATA45', 'score': 5.02}, {'connected_gene': 'VASH2', 'score': 4.13}, {'connected_gene': 'GC01M212767', 'score': 0.23}, {'connected_gene': 'GC01P212844', 'score': 0.19}]
chr1 GH01I212862 212862001 212862600 0.59 [{'connected_gene': 'GC01M212767', 'score': 550.77}, {'connected_gene': 'FLVCR1-AS1', 'score': 62.73}, {'connected_gene': 'FLVCR1', 'score': 34.36}, {'connected_gene': 'GC01P212844', 'score': 0.37}]