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
ENST00000402813 [[47937993, 47939846], [47942779, 47942886], [47944057, 47944165], [47945197, 47945305], [47945387, 47945429], [47951849, 47951912], [47953369, 47953486], [47954599, 47954720], [47972912, 47973117], [47983409, 47983552]] [[47938437, 47939846], [47942779, 47942886], [47944057, 47944165], [47945197, 47945305], [47945387, 47945429], [47951849, 47951912], [47953369, 47953486], [47954599, 47954720], [47972912, 47973117]]
ENST00000514170 [[47937993, 47939846], [47942779, 47942886], [47944057, 47944165], [47945197, 47945305], [47945387, 47945429], [47951849, 47951912], [47953369, 47953486], [47954599, 47954720], [47983409, 47983517], [48012810, 48012910], [48018499, 48018609]] [[47938437, 47939846], [47942779, 47942886], [47944057, 47944165], [47945197, 47945305], [47945387, 47945429], [47951849, 47951912], [47953369, 47953486], [47954599, 47954718]]
ENST00000358519 [[47937995, 47939846], [47942779, 47942886], [47944057, 47944165], [47945197, 47945305], [47945387, 47945429], [47951849, 47951912], [47953369, 47953486], [47954599, 47954720], [47983409, 47983519]] [[47938437, 47939846], [47942779, 47942886], [47944057, 47944165], [47945197, 47945305], [47945387, 47945429], [47951849, 47951912], [47953369, 47953486], [47954599, 47954718]]
ENST00000544810 [[47937995, 47939846], [47942779, 47942886], [47944057, 47944165], [47945197, 47945305], [47945387, 47945429], [47951849, 47951912], [47953369, 47953486], [47954599, 47954720], [47972912, 47973117], [47983409, 47983550]] [[47938437, 47939846], [47942779, 47942886], [47944057, 47944165], [47945197, 47945305], [47945387, 47945429], [47951849, 47951912], [47953369, 47953486], [47954599, 47954718]]
ENST00000420489 [[47938030, 47939846], [47942779, 47942886], [47944057, 47944165], [47945197, 47945305], [47945387, 47945429], [47951849, 47951912], [47953369, 47953486], [47954599, 47954720], [47983409, 47983517], [48012810, 48012910], [48014905, 48014961]] [[47938437, 47939846], [47942779, 47942886], [47944057, 47944165], [47945197, 47945305], [47945387, 47945429], [47951849, 47951912], [47953369, 47953486], [47954599, 47954718]]
ENST00000504722 [[47945261, 47945305], [47945387, 47945429], [47951849, 47951912], [47953369, 47953486], [47954599, 47954720], [48012810, 48012910], [48014905, 48014961]] [[47945261, 47945305], [47945387, 47945429], [47951849, 47951912], [47953369, 47953486], [47954599, 47954718]]
ENST00000513178 [[47951851, 47951912], [47953369, 47953486], [47954599, 47954720], [48012810, 48012910], [48018499, 48018689]] [[47951851, 47951912], [47953369, 47953486], [47954599, 47954718]]
ENST00000506118 [[47944933, 47945305], [47945387, 47945429], [47951849, 47951912], [47953369, 47953486], [47954599, 47954706]] None
ENST00000514520 [[47951849, 47951912], [47953369, 47953486], [47954599, 47954824]] [[47951849, 47951912], [47953369, 47953486], [47954599, 47954718]]
NM_001142564 [[47937993, 47939846], [47942779, 47942886], [47944057, 47944165], [47945197, 47945305], [47945387, 47945429], [47951849, 47951912], [47953369, 47953486], [47954599, 47954720], [47972912, 47973117], [47983409, 47983550]] [[47938437, 47939846], [47942779, 47942886], [47944057, 47944165], [47945197, 47945305], [47945387, 47945429], [47951849, 47951912], [47953369, 47953486], [47954599, 47954720], [47972912, 47973117]]
NM_000087 [[47937993, 47939846], [47942779, 47942886], [47944057, 47944165], [47945197, 47945305], [47945387, 47945429], [47951849, 47951912], [47953369, 47953486], [47954599, 47954720], [47983409, 47983517], [48012810, 48012910], [48014905, 48014961]] [[47938437, 47939846], [47942779, 47942886], [47944057, 47944165], [47945197, 47945305], [47945387, 47945429], [47951849, 47951912], [47953369, 47953486], [47954599, 47954718]]
Promoter
Chrom Start End Description
chr4 47983576 47983583 CAGE_peak_8_at_CNGA1_5end
chr4 47983608 47983615 CAGE_peak_9_at_CNGA1_5end
chr4 47983625 47983631 CAGE_peak_11_at_CNGA1_5end
chr4 47983637 47983656 CAGE_peak_6_at_CNGA1_5end
chr4 48014931 48014964 CAGE_peak_4_at_CNGA1_5end
chr4 48018580 48018602 CAGE_peak_5_at_CNGA1_5end
chr4 48018616 48018632 CAGE_peak_3_at_CNGA1_5end
chr4 48018648 48018676 CAGE_peak_1_at_CNGA1_5end
chr4 48018680 48018704 CAGE_peak_2_at_CNGA1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I048093 48093275 48094713 0.92 [{'connected_gene': 'TXK', 'score': 14.19}, {'connected_gene': 'CNGA1', 'score': 11.11}, {'connected_gene': 'NIPAL1', 'score': 11.02}, {'connected_gene': 'GC04P048104', 'score': 0.39}]
chr4 GH04I048058 48058359 48059277 0.78 [{'connected_gene': 'TXK', 'score': 15.93}, {'connected_gene': 'RNU6-838P', 'score': 10.73}, {'connected_gene': 'NIPAL1', 'score': 9.2}, {'connected_gene': 'SLAIN2', 'score': 4.88}, {'connected_gene': 'CNGA1', 'score': 0.26}, {'connected_gene': 'GC04P048104', 'score': 0.25}]
chr4 GH04I048172 48172482 48174861 1.27 [{'connected_gene': 'TXK', 'score': 11.41}, {'connected_gene': 'TEC', 'score': 9.01}, {'connected_gene': 'CNGA1', 'score': 8.41}, {'connected_gene': 'NIPAL1', 'score': 6.26}, {'connected_gene': 'ENSG00000248254', 'score': 5.43}, {'connected_gene': 'NFXL1', 'score': 5.05}, {'connected_gene': 'PIR56753', 'score': 0.37}, {'connected_gene': 'ENSG00000202014', 'score': 0.34}]
chr4 GH04I048227 48227604 48227916 0.73 [{'connected_gene': 'TXK', 'score': 11.33}, {'connected_gene': 'TEC', 'score': 8.68}, {'connected_gene': 'CNGA1', 'score': 1.76}, {'connected_gene': 'GC04M048219', 'score': 0.44}]
chr4 GH04I048126 48126352 48134886 2.11 [{'connected_gene': 'TXK', 'score': 562.0}, {'connected_gene': 'TEC', 'score': 12.6}, {'connected_gene': 'RNU6-838P', 'score': 10.99}, {'connected_gene': 'ENSG00000248254', 'score': 5.44}, {'connected_gene': 'CNGA1', 'score': 5.4}, {'connected_gene': 'ZAR1', 'score': 2.16}, {'connected_gene': 'GC04P048134', 'score': 0.77}, {'connected_gene': 'ENSG00000283499', 'score': 0.34}]
chr4 GH04I047465 47465046 47465320 0.63 [{'connected_gene': 'COMMD8', 'score': 556.15}, {'connected_gene': 'LOC107986277', 'score': 550.77}, {'connected_gene': 'CNGA1', 'score': 5.76}, {'connected_gene': 'ATP10D', 'score': 0.34}]
chr4 GH04I047462 47462418 47464942 2 [{'connected_gene': 'COMMD8', 'score': 558.6}, {'connected_gene': 'LOC107986277', 'score': 550.77}, {'connected_gene': 'CNGA1', 'score': 5.76}, {'connected_gene': 'ATP10D', 'score': 5.6}, {'connected_gene': 'GC04M047447', 'score': 0.44}]
chr4 GH04I048683 48683626 48685033 1.16 [{'connected_gene': 'OCIAD1', 'score': 7.86}, {'connected_gene': 'SLC10A4', 'score': 6.29}, {'connected_gene': 'CNGA1', 'score': 4.37}, {'connected_gene': 'GC04P048658', 'score': 0.31}, {'connected_gene': 'FRYL', 'score': 0.15}]
chr4 GH04I048014 48014829 48023483 2.33 [{'connected_gene': 'NIPAL1', 'score': 561.28}, {'connected_gene': 'CNGA1', 'score': 45.24}, {'connected_gene': 'NFXL1', 'score': 23.66}, {'connected_gene': 'RNU6-838P', 'score': 10.41}, {'connected_gene': 'GC04P048104', 'score': 0.17}]
chr4 GH04I048071 48071389 48072396 0.31 [{'connected_gene': 'NIPAL1', 'score': 19.32}, {'connected_gene': 'CNGA1', 'score': 11.27}, {'connected_gene': 'RNU6-838P', 'score': 10.56}, {'connected_gene': 'GC04P048104', 'score': 0.29}, {'connected_gene': 'TXK', 'score': 0.21}]
chr4 GH04I048072 48071164 48071313 0.2 [{'connected_gene': 'NIPAL1', 'score': 19.19}, {'connected_gene': 'CNGA1', 'score': 11.28}, {'connected_gene': 'RNU6-838P', 'score': 10.56}, {'connected_gene': 'GC04P048104', 'score': 0.29}, {'connected_gene': 'TXK', 'score': 0.21}]
chr4 GH04I048079 48079423 48080964 0.67 [{'connected_gene': 'NIPAL1', 'score': 16.1}, {'connected_gene': 'RNU6-838P', 'score': 11.5}, {'connected_gene': 'CNGA1', 'score': 11.5}, {'connected_gene': 'ENSG00000259959', 'score': 5.14}, {'connected_gene': 'CWH43', 'score': 3.74}, {'connected_gene': 'GC04P048104', 'score': 0.34}, {'connected_gene': 'TXK', 'score': 0.23}]
chr4 GH04I047913 47913105 47915401 2.02 [{'connected_gene': 'NFXL1', 'score': 605.73}, {'connected_gene': 'NIPAL1', 'score': 550.77}, {'connected_gene': 'LOC101927157', 'score': 550.77}, {'connected_gene': 'CNGA1', 'score': 16.19}]
chr4 GH04I047855 47855060 47857338 0.31 [{'connected_gene': 'NFXL1', 'score': 55.92}, {'connected_gene': 'CNGA1', 'score': 23.88}, {'connected_gene': 'ENSG00000259959', 'score': 5.38}, {'connected_gene': 'LOC101927179', 'score': 0.34}, {'connected_gene': 'NIPAL1', 'score': 0.22}]
chr4 GH04I047852 47852260 47852996 0.2 [{'connected_gene': 'NFXL1', 'score': 52.19}, {'connected_gene': 'CNGA1', 'score': 17.59}, {'connected_gene': 'ENSG00000259959', 'score': 0.44}, {'connected_gene': 'LOC101927179', 'score': 0.34}, {'connected_gene': 'NIPAL1', 'score': 0.21}]
chr4 GH04I047482 47482005 47482800 0.74 [{'connected_gene': 'CNGA1', 'score': 4.66}, {'connected_gene': 'ATP10D', 'score': 0.77}, {'connected_gene': 'LOC107986277', 'score': 0.37}]
chr4 GH04I048115 48115813 48119719 0.2 [{'connected_gene': 'CNGA1', 'score': 10.36}, {'connected_gene': 'ZAR1', 'score': 9.85}, {'connected_gene': 'ENSG00000259959', 'score': 7.64}, {'connected_gene': 'TXK', 'score': 5.03}, {'connected_gene': 'ENSG00000283499', 'score': 0.44}]
chr4 GH04I048085 48085931 48087134 0.52 [{'connected_gene': 'CNGA1', 'score': 19.99}, {'connected_gene': 'NIPAL1', 'score': 11.18}, {'connected_gene': 'ENSG00000259959', 'score': 8.52}, {'connected_gene': 'GC04P048104', 'score': 0.37}, {'connected_gene': 'TXK', 'score': 0.25}]
chr4 GH04I048046 48046560 48048653 1.01 [{'connected_gene': 'CNGA1', 'score': 30.34}, {'connected_gene': 'NIPAL1', 'score': 12.32}, {'connected_gene': 'RNU6-838P', 'score': 10.45}, {'connected_gene': 'NFXL1', 'score': 8.61}, {'connected_gene': 'ENSG00000259959', 'score': 4.16}, {'connected_gene': 'GC04P048104', 'score': 0.22}]
chr4 GH04I048038 48038037 48038653 0.54 [{'connected_gene': 'CNGA1', 'score': 11.97}, {'connected_gene': 'NIPAL1', 'score': 11.75}, {'connected_gene': 'RNU6-838P', 'score': 10.39}, {'connected_gene': 'GC04P048104', 'score': 0.2}]
chr4 GH04I048042 48042758 48043827 0.85 [{'connected_gene': 'CNGA1', 'score': 30.94}, {'connected_gene': 'NIPAL1', 'score': 12.33}, {'connected_gene': 'RNU6-838P', 'score': 10.44}, {'connected_gene': 'GC04P048104', 'score': 0.21}]
chr4 GH04I048036 48036254 48037563 0.92 [{'connected_gene': 'CNGA1', 'score': 45.28}, {'connected_gene': 'NIPAL1', 'score': 11.75}, {'connected_gene': 'RNU6-838P', 'score': 10.39}, {'connected_gene': 'GC04P048104', 'score': 0.2}]
chr4 GH04I047981 47981615 47981674 0.5 [{'connected_gene': 'CNGA1', 'score': 550.28}, {'connected_gene': 'PIR42399', 'score': 0.31}, {'connected_gene': 'NIPAL1', 'score': 0.2}, {'connected_gene': 'LOC101927157', 'score': 0.2}, {'connected_gene': 'NFXL1', 'score': 0.2}]
chr4 GH04I047926 47926284 47927391 0.94 [{'connected_gene': 'CNGA1', 'score': 26.45}, {'connected_gene': 'NFXL1', 'score': 20.54}, {'connected_gene': 'SLAIN2', 'score': 5.24}, {'connected_gene': 'NIPAL1', 'score': 0.39}, {'connected_gene': 'LOC101927157', 'score': 0.39}, {'connected_gene': 'PIR42399', 'score': 0.18}]
chr4 GH04I047911 47911401 47912600 0.31 [{'connected_gene': 'CNGA1', 'score': 23.8}, {'connected_gene': 'NFXL1', 'score': 21.4}, {'connected_gene': 'NIPAL1', 'score': 0.77}, {'connected_gene': 'ENSG00000259959', 'score': 0.2}]
chr4 GH04I048012 48012928 48012987 0.79 [{'connected_gene': 'CNGA1', 'score': 565.45}, {'connected_gene': 'RNU6-838P', 'score': 10.82}, {'connected_gene': 'PIR42399', 'score': 0.77}, {'connected_gene': 'NIPAL1', 'score': 0.15}]
chr4 GH04I048031 48031251 48034113 0.93 [{'connected_gene': 'CNGA1', 'score': 15.4}, {'connected_gene': 'RNU6-838P', 'score': 10.44}, {'connected_gene': 'ENSG00000259959', 'score': 5.08}, {'connected_gene': 'GC04P048104', 'score': 0.19}, {'connected_gene': 'NIPAL1', 'score': 0.13}]
chr4 GH04I047838 47838984 47839610 0.8 [{'connected_gene': 'CORIN', 'score': 550.77}, {'connected_gene': 'GC04P047839', 'score': 550.77}, {'connected_gene': 'NFXL1', 'score': 54.42}, {'connected_gene': 'CNGA1', 'score': 23.95}, {'connected_gene': 'LOC101927179', 'score': 0.44}]
chr4 GH04I047836 47836400 47838001 1.33 [{'connected_gene': 'CORIN', 'score': 550.77}, {'connected_gene': 'NFXL1', 'score': 55.06}, {'connected_gene': 'CNGA1', 'score': 24.6}, {'connected_gene': 'LOC101927179', 'score': 0.44}]
chr4 GH04I048135 48135362 48140961 0.97 [{'connected_gene': 'RNU6-838P', 'score': 10.49}, {'connected_gene': 'TXK', 'score': 9.1}, {'connected_gene': 'TEC', 'score': 7.98}, {'connected_gene': 'CNGA1', 'score': 7.0}, {'connected_gene': 'NIPAL1', 'score': 6.21}, {'connected_gene': 'ENSG00000248254', 'score': 5.43}, {'connected_gene': 'GC04P048134', 'score': 0.77}, {'connected_gene': 'GC04P048153', 'score': 0.37}]
chr4 GH04I048024 48024572 48025640 0.2 [{'connected_gene': 'RNU6-838P', 'score': 10.42}, {'connected_gene': 'NIPAL1', 'score': 9.18}, {'connected_gene': 'CNGA1', 'score': 6.72}, {'connected_gene': 'NFXL1', 'score': 6.51}, {'connected_gene': 'GC04P048104', 'score': 0.18}]
chr4 GH04I048801 48801842 48802358 0.64 [{'connected_gene': 'OCIAD1-AS1', 'score': 10.18}, {'connected_gene': 'CNGA1', 'score': 4.13}, {'connected_gene': 'OCIAD1', 'score': 0.77}, {'connected_gene': 'FRYL', 'score': 0.34}]
chr4 GH04I048102 48102494 48103933 0.69 [{'connected_gene': 'GC04P048104', 'score': 550.77}, {'connected_gene': 'ENSG00000259959', 'score': 7.94}, {'connected_gene': 'NIPAL1', 'score': 4.75}, {'connected_gene': 'TXK', 'score': 0.29}, {'connected_gene': 'CNGA1', 'score': 0.17}]
chr4 GH04I047824 47824449 47826035 0.78 [{'connected_gene': 'GC04P047826', 'score': 550.77}, {'connected_gene': 'NFXL1', 'score': 36.19}, {'connected_gene': 'NIPAL1', 'score': 10.86}, {'connected_gene': 'CNGA1', 'score': 5.82}, {'connected_gene': 'CORIN', 'score': 0.39}, {'connected_gene': 'GC04M047659', 'score': 0.16}]
chr4 GH04I047974 47974601 47975000 0.2 [{'connected_gene': 'PIR42399', 'score': 0.28}, {'connected_gene': 'CNGA1', 'score': 0.26}, {'connected_gene': 'NIPAL1', 'score': 0.21}, {'connected_gene': 'LOC101927157', 'score': 0.21}, {'connected_gene': 'NFXL1', 'score': 0.21}]

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