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
ENST00000608639 [[123809851, 123810111], [123811125, 123811240], [123813786, 123813843]] None
ENST00000512116 [[123813729, 123814380], [123818778, 123818833], [123833722, 123833778], [123838655, 123838859], [123843083, 123843737]] [[123843412, 123843727]]
ENST00000304430 [[123813798, 123814380], [123818778, 123818833], [123833722, 123833778], [123838655, 123838859], [123843489, 123843761]] [[123813982, 123814380], [123818778, 123818833], [123833722, 123833778], [123838655, 123838859], [123843489, 123843727]]
ENST00000339154 [[123813798, 123814380], [123818778, 123818833], [123833722, 123833778], [123838655, 123838859], [123843955, 123844123]] [[123813982, 123814380], [123818778, 123818824]]
ENST00000503370 [[123813800, 123814380], [123833722, 123833778], [123838655, 123838859], [123843178, 123843729]] [[123843412, 123843727]]
ENST00000510735 [[123813804, 123814380], [123818778, 123818833], [123843489, 123843597]] [[123818789, 123818833], [123843489, 123843597]]
ENST00000502270 [[123813895, 123814380], [123818778, 123818833], [123833722, 123833778], [123834361, 123834443]] [[123813982, 123814380], [123818778, 123818824]]
ENST00000513517 [[123818680, 123818833], [123833722, 123833778], [123838655, 123843752]] None
NM_007083 [[123813798, 123814380], [123818778, 123818833], [123833722, 123833778], [123838655, 123838859], [123843489, 123843761]] [[123813982, 123814380], [123818778, 123818833], [123833722, 123833778], [123838655, 123838859], [123843489, 123843727]]
NM_198041 [[123813798, 123814380], [123818778, 123818833], [123833722, 123833778], [123838655, 123838859], [123843955, 123844159]] [[123813982, 123814380], [123818778, 123818824]]
Promoter
Chrom Start End Description
chr4 123843707 123843766 CAGE_peak_1_at_NUDT6_5end
chr4 123844084 123844134 CAGE_peak_2_at_NUDT6_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I122860 122860912 122864643 0.31 [{'connected_gene': 'KIAA1109', 'score': 15.82}, {'connected_gene': 'BBS7', 'score': 13.22}, {'connected_gene': 'FGF2', 'score': 11.87}, {'connected_gene': 'NUDT6', 'score': 10.14}, {'connected_gene': 'ENSG00000273007', 'score': 4.48}, {'connected_gene': 'RPS26P23', 'score': 0.34}]
chr4 GH04I122763 122762801 122766809 1.63 [{'connected_gene': 'CETN4P', 'score': 20.75}, {'connected_gene': 'FGF2', 'score': 15.11}, {'connected_gene': 'BBS12', 'score': 11.21}, {'connected_gene': 'SPATA5', 'score': 10.91}, {'connected_gene': 'NUDT6', 'score': 10.91}, {'connected_gene': 'CCNA2', 'score': 4.59}, {'connected_gene': 'LOC727709', 'score': 0.31}, {'connected_gene': 'RPL34P12', 'score': 0.23}]
chr4 GH04I122743 122743846 122745505 0.66 [{'connected_gene': 'CETN4P', 'score': 15.17}, {'connected_gene': 'FGF2', 'score': 10.94}, {'connected_gene': 'NUDT6', 'score': 10.85}, {'connected_gene': 'SPATA5', 'score': 10.85}, {'connected_gene': 'IL21-AS1', 'score': 10.38}, {'connected_gene': 'LOC727709', 'score': 0.44}, {'connected_gene': 'BBS12', 'score': 0.26}, {'connected_gene': 'RPL34P12', 'score': 0.19}]
chr4 GH04I122756 122756546 122757304 0.46 [{'connected_gene': 'CETN4P', 'score': 23.64}, {'connected_gene': 'BBS12', 'score': 11.22}, {'connected_gene': 'SPATA5', 'score': 10.91}, {'connected_gene': 'NUDT6', 'score': 10.91}, {'connected_gene': 'FGF2', 'score': 10.79}, {'connected_gene': 'LOC727709', 'score': 0.37}, {'connected_gene': 'RPL34P12', 'score': 0.22}]
chr4 GH04I122757 122757716 122758654 1.09 [{'connected_gene': 'CETN4P', 'score': 18.01}, {'connected_gene': 'BBS12', 'score': 11.22}, {'connected_gene': 'SPATA5', 'score': 10.9}, {'connected_gene': 'NUDT6', 'score': 10.9}, {'connected_gene': 'FGF2', 'score': 10.79}, {'connected_gene': 'LOC727709', 'score': 0.37}, {'connected_gene': 'RPL34P12', 'score': 0.22}]
chr4 GH04I122762 122762606 122762775 0.77 [{'connected_gene': 'CETN4P', 'score': 11.29}, {'connected_gene': 'BBS12', 'score': 11.21}, {'connected_gene': 'SPATA5', 'score': 10.9}, {'connected_gene': 'NUDT6', 'score': 10.9}, {'connected_gene': 'FGF2', 'score': 10.79}, {'connected_gene': 'LOC727709', 'score': 0.34}, {'connected_gene': 'RPL34P12', 'score': 0.23}]
chr4 GH04I122738 122738826 122740014 0.4 [{'connected_gene': 'LOC727709', 'score': 550.77}, {'connected_gene': 'FGF2', 'score': 10.93}, {'connected_gene': 'SPATA5', 'score': 10.84}, {'connected_gene': 'NUDT6', 'score': 10.84}, {'connected_gene': 'BBS12', 'score': 0.28}, {'connected_gene': 'RPL34P12', 'score': 0.18}]
chr4 GH04I122914 122914296 122915331 0.8 [{'connected_gene': 'FGF2', 'score': 10.85}, {'connected_gene': 'CETN4P', 'score': 10.79}, {'connected_gene': 'BBS12', 'score': 10.78}, {'connected_gene': 'ENSG00000273007', 'score': 7.01}, {'connected_gene': 'NUDT6', 'score': 4.97}, {'connected_gene': 'SPATA5', 'score': 4.85}]
chr4 GH04I122908 122908880 122912328 0.54 [{'connected_gene': 'FGF2', 'score': 10.94}, {'connected_gene': 'CETN4P', 'score': 10.8}, {'connected_gene': 'BBS12', 'score': 10.78}, {'connected_gene': 'ENSG00000273007', 'score': 6.84}, {'connected_gene': 'NUDT6', 'score': 4.93}]
chr4 GH04I122781 122781621 122785849 1.44 [{'connected_gene': 'FGF2', 'score': 12.65}, {'connected_gene': 'SPATA5', 'score': 10.47}, {'connected_gene': 'NUDT6', 'score': 10.47}, {'connected_gene': 'CETN4P', 'score': 9.43}, {'connected_gene': 'SPRY1', 'score': 4.5}, {'connected_gene': 'RPL34P12', 'score': 0.29}, {'connected_gene': 'LOC727709', 'score': 0.26}]
chr4 GH04I122788 122788142 122789505 0.49 [{'connected_gene': 'FGF2', 'score': 11.5}, {'connected_gene': 'SPATA5', 'score': 10.29}, {'connected_gene': 'NUDT6', 'score': 10.29}, {'connected_gene': 'CETN4P', 'score': 9.42}, {'connected_gene': 'RPL34P12', 'score': 0.31}, {'connected_gene': 'LOC727709', 'score': 0.25}]
chr4 GH04I122766 122766948 122767439 1.07 [{'connected_gene': 'FGF2', 'score': 10.55}, {'connected_gene': 'SPATA5', 'score': 9.91}, {'connected_gene': 'NUDT6', 'score': 9.91}, {'connected_gene': 'LOC727709', 'score': 0.31}, {'connected_gene': 'RPL34P12', 'score': 0.25}]
chr4 GH04I122850 122850296 122852102 0.31 [{'connected_gene': 'FGF2', 'score': 11.92}, {'connected_gene': 'SPATA5', 'score': 10.65}, {'connected_gene': 'NUDT6', 'score': 10.65}, {'connected_gene': 'BBS12', 'score': 4.53}, {'connected_gene': 'RPS26P23', 'score': 0.39}, {'connected_gene': 'ENSG00000273007', 'score': 0.29}]
chr4 GH04I122853 122853878 122856088 0.93 [{'connected_gene': 'FGF2', 'score': 11.89}, {'connected_gene': 'SPATA5', 'score': 10.66}, {'connected_gene': 'NUDT6', 'score': 10.66}, {'connected_gene': 'RPS26P23', 'score': 0.39}, {'connected_gene': 'ENSG00000273007', 'score': 0.31}]
chr4 GH04I122780 122780406 122780555 0.4 [{'connected_gene': 'FGF2', 'score': 10.84}, {'connected_gene': 'SPATA5', 'score': 9.46}, {'connected_gene': 'NUDT6', 'score': 9.46}, {'connected_gene': 'RPL34P12', 'score': 0.28}, {'connected_gene': 'LOC727709', 'score': 0.26}]
chr4 GH04I122787 122787356 122787722 0.31 [{'connected_gene': 'FGF2', 'score': 11.5}, {'connected_gene': 'SPATA5', 'score': 10.29}, {'connected_gene': 'NUDT6', 'score': 10.29}, {'connected_gene': 'RPL34P12', 'score': 0.31}, {'connected_gene': 'LOC727709', 'score': 0.25}]
chr4 GH04I122776 122776839 122778885 1 [{'connected_gene': 'FGF2', 'score': 10.75}, {'connected_gene': 'SPATA5', 'score': 10.46}, {'connected_gene': 'NUDT6', 'score': 10.46}, {'connected_gene': 'RPL34P12', 'score': 0.28}, {'connected_gene': 'LOC727709', 'score': 0.28}]
chr4 GH04I122795 122795894 122800409 1.53 [{'connected_gene': 'FGF2', 'score': 17.12}, {'connected_gene': 'NUDT6', 'score': 9.94}, {'connected_gene': 'SPATA5', 'score': 9.94}, {'connected_gene': 'IL21-AS1', 'score': 9.3}, {'connected_gene': 'CETN4P', 'score': 9.14}, {'connected_gene': 'SPRY1', 'score': 4.49}, {'connected_gene': 'RPL34P12', 'score': 0.37}, {'connected_gene': 'LOC727709', 'score': 0.22}]
chr4 GH04I122872 122872867 122875101 1.11 [{'connected_gene': 'FGF2', 'score': 11.19}, {'connected_gene': 'IL21-AS1', 'score': 9.01}, {'connected_gene': 'NUDT6', 'score': 6.99}, {'connected_gene': 'ENSG00000273007', 'score': 4.36}, {'connected_gene': 'RPS26P23', 'score': 0.29}]
chr4 GH04I122903 122903101 122904288 0.31 [{'connected_gene': 'FGF2', 'score': 10.58}, {'connected_gene': 'IL21-AS1', 'score': 9.68}, {'connected_gene': 'ENSG00000273007', 'score': 0.37}, {'connected_gene': 'NUDT6', 'score': 0.37}]
chr4 GH04I123348 123348735 123351112 1.21 [{'connected_gene': 'SPATA5', 'score': 24.71}, {'connected_gene': 'NUDT6', 'score': 7.66}, {'connected_gene': 'LINC01091', 'score': 4.21}, {'connected_gene': 'LOC105377404', 'score': 0.34}, {'connected_gene': 'SPRY1', 'score': 0.25}, {'connected_gene': 'GC04P123213', 'score': 0.12}]
chr4 GH04I122602 122602962 122603579 0.84 [{'connected_gene': 'SPATA5', 'score': 10.52}, {'connected_gene': 'NUDT6', 'score': 10.52}, {'connected_gene': 'IL21-AS1', 'score': 0.37}, {'connected_gene': 'IL2', 'score': 0.11}]
chr4 GH04I123017 123017121 123019443 0.31 [{'connected_gene': 'NUDT6', 'score': 11.84}, {'connected_gene': 'COILP2', 'score': 0.44}, {'connected_gene': 'SPATA5', 'score': 0.15}]
chr4 GH04I123083 123083601 123084200 0.2 [{'connected_gene': 'NUDT6', 'score': 10.51}, {'connected_gene': 'GC04P123097', 'score': 0.39}, {'connected_gene': 'COILP2', 'score': 0.21}, {'connected_gene': 'SPATA5', 'score': 0.1}]
chr4 GH04I122875 122875242 122876778 0.52 [{'connected_gene': 'NUDT6', 'score': 11.52}, {'connected_gene': 'FGF2', 'score': 10.84}, {'connected_gene': 'ENSG00000273007', 'score': 0.44}, {'connected_gene': 'RPS26P23', 'score': 0.28}]
chr4 GH04I122889 122889196 122891090 0.77 [{'connected_gene': 'NUDT6', 'score': 11.88}, {'connected_gene': 'ENSG00000273007', 'score': 4.32}, {'connected_gene': 'FGF2', 'score': 0.21}]
chr4 GH04I122895 122895457 122896172 0.63 [{'connected_gene': 'NUDT6', 'score': 11.63}, {'connected_gene': 'ENSG00000273007', 'score': 4.25}, {'connected_gene': 'FGF2', 'score': 0.2}]
chr4 GH04I122877 122877290 122879689 0.2 [{'connected_gene': 'NUDT6', 'score': 21.9}, {'connected_gene': 'SPATA5', 'score': 14.85}, {'connected_gene': 'FGF2', 'score': 11.15}, {'connected_gene': 'ENSG00000273007', 'score': 4.41}, {'connected_gene': 'RPS26P23', 'score': 0.28}]
chr4 GH04I122897 122897287 122900216 1.05 [{'connected_gene': 'NUDT6', 'score': 22.01}, {'connected_gene': 'SPATA5', 'score': 10.6}, {'connected_gene': 'FGF2', 'score': 10.59}, {'connected_gene': 'ENSG00000273007', 'score': 4.46}]
chr4 GH04I122891 122891351 122892937 0.31 [{'connected_gene': 'NUDT6', 'score': 22.24}, {'connected_gene': 'SPATA5', 'score': 10.65}, {'connected_gene': 'FGF2', 'score': 10.5}, {'connected_gene': 'ENSG00000273007', 'score': 5.46}]
chr4 GH04I122920 122920756 122924558 2.02 [{'connected_gene': 'NUDT6', 'score': 562.63}, {'connected_gene': 'SPATA5', 'score': 550.77}, {'connected_gene': 'ENSG00000237868', 'score': 9.65}, {'connected_gene': 'FGF2', 'score': 5.09}, {'connected_gene': 'ENSG00000273007', 'score': 4.17}]
chr4 GH04I123120 123120106 123121103 0.31 [{'connected_gene': 'NUDT6', 'score': 10.28}, {'connected_gene': 'ENSG00000273007', 'score': 3.92}, {'connected_gene': 'GC04P123097', 'score': 0.34}, {'connected_gene': 'GC04P123213', 'score': 0.16}, {'connected_gene': 'SPATA5', 'score': 0.08}]
chr4 GH04I123152 123152351 123152515 0.22 [{'connected_gene': 'NUDT6', 'score': 1.24}, {'connected_gene': 'GC04P123097', 'score': 0.23}, {'connected_gene': 'GC04P123213', 'score': 0.21}, {'connected_gene': 'SPATA5', 'score': 0.07}]
chr4 GH04I123250 123250946 123251095 0.31 [{'connected_gene': 'NUDT6', 'score': 10.69}, {'connected_gene': 'ENSG00000250322', 'score': 0.44}, {'connected_gene': 'GC04P123213', 'score': 0.28}, {'connected_gene': 'SPATA5', 'score': 0.05}]
chr4 GH04I123303 123303278 123306494 1.02 [{'connected_gene': 'NUDT6', 'score': 8.07}, {'connected_gene': 'GC04P123321', 'score': 0.37}, {'connected_gene': 'GC04P123284', 'score': 0.34}, {'connected_gene': 'GC04P123213', 'score': 0.16}, {'connected_gene': 'SPATA5', 'score': 0.05}]
chr4 GH04I123104 123104254 123105500 0.31 [{'connected_gene': 'NUDT6', 'score': 10.88}, {'connected_gene': 'GC04P123097', 'score': 0.44}, {'connected_gene': 'GC04P123213', 'score': 0.14}, {'connected_gene': 'SPATA5', 'score': 0.09}]
chr4 GH04I123127 123127363 123128957 0.58 [{'connected_gene': 'NUDT6', 'score': 4.57}, {'connected_gene': 'GC04P123097', 'score': 0.29}, {'connected_gene': 'GC04P123213', 'score': 0.17}, {'connected_gene': 'SPATA5', 'score': 0.08}]
chr4 GH04I123112 123112517 123114430 0.2 [{'connected_gene': 'NUDT6', 'score': 10.64}, {'connected_gene': 'GC04P123097', 'score': 0.37}, {'connected_gene': 'GC04P123213', 'score': 0.15}, {'connected_gene': 'SPATA5', 'score': 0.08}]
chr4 GH04I123297 123297861 123300188 0.86 [{'connected_gene': 'NUDT6', 'score': 4.53}, {'connected_gene': 'GC04P123284', 'score': 0.39}, {'connected_gene': 'GC04P123321', 'score': 0.34}, {'connected_gene': 'GC04P123213', 'score': 0.17}, {'connected_gene': 'SPATA5', 'score': 0.05}]
chr4 GH04I123257 123257604 123258525 0.31 [{'connected_gene': 'NUDT6', 'score': 7.66}, {'connected_gene': 'ENSG00000250322', 'score': 0.77}, {'connected_gene': 'GC04P123213', 'score': 0.26}, {'connected_gene': 'SPATA5', 'score': 0.06}]
chr4 GH04I123346 123346570 123347498 0.31 [{'connected_gene': 'NUDT6', 'score': 8.26}, {'connected_gene': 'LOC105377404', 'score': 0.34}, {'connected_gene': 'SPRY1', 'score': 0.25}, {'connected_gene': 'GC04P123213', 'score': 0.12}]
chr4 GH04I123342 123342251 123344814 0.59 [{'connected_gene': 'NUDT6', 'score': 8.4}, {'connected_gene': 'LOC105377404', 'score': 0.37}, {'connected_gene': 'SPRY1', 'score': 0.23}, {'connected_gene': 'GC04P123213', 'score': 0.13}]
chr4 GH04I123325 123325201 123325800 0.96 [{'connected_gene': 'LOC105377404', 'score': 550.77}, {'connected_gene': 'GC04P123324', 'score': 550.77}, {'connected_gene': 'NUDT6', 'score': 4.61}, {'connected_gene': 'GC04P123213', 'score': 0.14}]
chr4 GH04I123359 123359907 123362612 0.85 [{'connected_gene': 'SPRY1', 'score': 11.37}, {'connected_gene': 'NUDT6', 'score': 5.74}, {'connected_gene': 'LOC105377404', 'score': 0.29}, {'connected_gene': 'GC04P123213', 'score': 0.11}]
chr4 GH04I122917 122917170 122918451 0.31 [{'connected_gene': 'ENSG00000273007', 'score': 4.97}, {'connected_gene': 'NUDT6', 'score': 0.44}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.