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
ENST00000424843 [[105501458, 105503767], [105507304, 105507437], [105509199, 105510304], [105511544, 105511747], [105521166, 105521302], [105601046, 105601252]] [[105502900, 105503767], [105507304, 105507437], [105509199, 105510304], [105511544, 105511747], [105521166, 105521302], [105601046, 105601125]]
ENST00000276654 [[105501477, 105503767], [105507304, 105507437], [105509199, 105510304], [105511544, 105511747], [105521166, 105521302], [105544134, 105544191], [105601046, 105601234]] [[105502900, 105503767], [105507304, 105507437], [105509199, 105510304], [105511544, 105511747], [105521166, 105521302], [105544134, 105544191], [105601046, 105601125]]
ENST00000520770 [[105509981, 105510304], [105511544, 105511747], [105521166, 105521302], [105601046, 105601237]] None
ENST00000518375 [[105501483, 105503767], [105507304, 105508370]] None
ENST00000523007 [[105503645, 105503767], [105507304, 105507437], [105509199, 105509833]] [[105503645, 105503767], [105507304, 105507437], [105509199, 105509546]]
ENST00000522046 [[105503648, 105503767], [105507304, 105507978]] None
ENST00000519675 [[105516471, 105521302], [105601046, 105601223]] None
NM_013437 [[105501458, 105503767], [105507304, 105507437], [105509199, 105510304], [105511544, 105511747], [105521166, 105521302], [105544134, 105544191], [105601046, 105601252]] [[105502900, 105503767], [105507304, 105507437], [105509199, 105510304], [105511544, 105511747], [105521166, 105521302], [105544134, 105544191], [105601046, 105601125]]
NM_001135703 [[105501458, 105503767], [105507304, 105507437], [105509199, 105510304], [105511544, 105511747], [105521166, 105521302], [105601046, 105601252]] [[105502900, 105503767], [105507304, 105507437], [105509199, 105510304], [105511544, 105511747], [105521166, 105521302], [105601046, 105601125]]
Promoter
Chrom Start End Description
chr8 105601134 105601165 CAGE_peak_3_at_LRP12_5end
chr8 105601469 105601520 CAGE_peak_1_at_LRP12_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I104277 104277805 104279567 0.97 [{'connected_gene': 'RIMS2', 'score': 5.23}, {'connected_gene': 'LRP12', 'score': 1.28}, {'connected_gene': 'PIR34879', 'score': 0.37}, {'connected_gene': 'DCSTAMP', 'score': 0.21}]
chr8 GH08I104746 104746198 104748243 1.17 [{'connected_gene': 'DCSTAMP', 'score': 4.58}, {'connected_gene': 'LRP12', 'score': 1.81}, {'connected_gene': 'GC08P104735', 'score': 0.39}, {'connected_gene': 'GC08M104805', 'score': 0.19}, {'connected_gene': 'ZFPM2', 'score': 0.1}]
chr8 GH08I104669 104669058 104669541 0.96 [{'connected_gene': 'DCSTAMP', 'score': 22.41}, {'connected_gene': 'LRP12', 'score': 13.42}, {'connected_gene': 'ENSG00000283157', 'score': 0.29}, {'connected_gene': 'GC08P104611', 'score': 0.22}, {'connected_gene': 'ZFPM2', 'score': 0.18}]
chr8 GH08I104664 104664453 104666983 1.74 [{'connected_gene': 'DCSTAMP', 'score': 14.86}, {'connected_gene': 'LRP12', 'score': 13.98}, {'connected_gene': 'ENSG00000283157', 'score': 0.28}, {'connected_gene': 'GC08P104611', 'score': 0.23}, {'connected_gene': 'ZFPM2', 'score': 0.19}]
chr8 GH08I104359 104359795 104362798 1.18 [{'connected_gene': 'DCSTAMP', 'score': 60.04}, {'connected_gene': 'LRP12', 'score': 1.54}, {'connected_gene': 'GC08M104420', 'score': 0.22}, {'connected_gene': 'DPYS', 'score': 0.14}]
chr8 GH08I104336 104336616 104337480 0.99 [{'connected_gene': 'DCSTAMP', 'score': 35.71}, {'connected_gene': 'LRP12', 'score': 1.75}, {'connected_gene': 'PIR34879', 'score': 0.18}, {'connected_gene': 'DPYS', 'score': 0.12}]
chr8 GH08I104585 104585660 104586562 1.13 [{'connected_gene': 'DCSTAMP', 'score': 12.5}, {'connected_gene': 'LRP12', 'score': 7.46}, {'connected_gene': 'GC08P104568', 'score': 0.34}]
chr8 GH08I104459 104459668 104461362 0.46 [{'connected_gene': 'MIR548A3', 'score': 10.67}, {'connected_gene': 'LRP12', 'score': 4.73}, {'connected_gene': 'DPYS', 'score': 0.44}, {'connected_gene': 'LOC105375691', 'score': 0.44}, {'connected_gene': 'LOC105375692', 'score': 0.29}]
chr8 GH08I104659 104659593 104659742 0.51 [{'connected_gene': 'LRP12', 'score': 11.6}, {'connected_gene': 'DCSTAMP', 'score': 4.08}, {'connected_gene': 'ENSG00000283157', 'score': 0.26}, {'connected_gene': 'GC08P104611', 'score': 0.25}, {'connected_gene': 'ZFPM2', 'score': 0.2}]
chr8 GH08I104616 104616485 104618760 1.42 [{'connected_gene': 'LRP12', 'score': 14.13}, {'connected_gene': 'DCSTAMP', 'score': 6.51}, {'connected_gene': 'GC08P104611', 'score': 0.44}, {'connected_gene': 'ZFPM2', 'score': 0.31}, {'connected_gene': 'ENSG00000283157', 'score': 0.17}]
chr8 GH08I104642 104642442 104644392 1.3 [{'connected_gene': 'LRP12', 'score': 13.25}, {'connected_gene': 'DCSTAMP', 'score': 7.44}, {'connected_gene': 'GC08P104611', 'score': 0.29}, {'connected_gene': 'ZFPM2', 'score': 0.23}, {'connected_gene': 'ENSG00000283157', 'score': 0.21}]
chr8 GH08I104617 104616269 104616402 0.2 [{'connected_gene': 'LRP12', 'score': 12.95}, {'connected_gene': 'GC08P104611', 'score': 0.77}, {'connected_gene': 'ZFPM2', 'score': 0.31}, {'connected_gene': 'ENSG00000283157', 'score': 0.17}]
chr8 GH08I104668 104668096 104668648 0.51 [{'connected_gene': 'LRP12', 'score': 11.65}, {'connected_gene': 'ENSG00000283157', 'score': 0.28}, {'connected_gene': 'GC08P104611', 'score': 0.22}, {'connected_gene': 'ZFPM2', 'score': 0.18}]
chr8 GH08I104587 104587778 104590201 2.01 [{'connected_gene': 'LRP12', 'score': 555.16}, {'connected_gene': 'ZFPM2', 'score': 550.77}, {'connected_gene': 'GC08P104568', 'score': 0.34}]
chr8 GH08I104670 104670913 104671042 0.49 [{'connected_gene': 'LRP12', 'score': 16.78}, {'connected_gene': 'ENSG00000283157', 'score': 0.29}, {'connected_gene': 'GC08P104611', 'score': 0.22}, {'connected_gene': 'ZFPM2', 'score': 0.18}]
chr8 GH08I104629 104629785 104631281 0.2 [{'connected_gene': 'LRP12', 'score': 11.72}, {'connected_gene': 'GC08P104611', 'score': 0.37}, {'connected_gene': 'ZFPM2', 'score': 0.28}, {'connected_gene': 'ENSG00000283157', 'score': 0.19}]
chr8 GH08I104768 104768999 104772761 0.74 [{'connected_gene': 'LRP12', 'score': 4.99}, {'connected_gene': 'GC08P104735', 'score': 0.28}, {'connected_gene': 'GC08M104805', 'score': 0.25}, {'connected_gene': 'ZFPM2', 'score': 0.09}]
chr8 GH08I104628 104628414 104629199 0.2 [{'connected_gene': 'LRP12', 'score': 16.58}, {'connected_gene': 'GC08P104611', 'score': 0.37}, {'connected_gene': 'ZFPM2', 'score': 0.28}, {'connected_gene': 'ENSG00000283157', 'score': 0.19}]
chr8 GH08I104626 104626253 104626895 0.43 [{'connected_gene': 'LRP12', 'score': 12.43}, {'connected_gene': 'GC08P104611', 'score': 0.37}, {'connected_gene': 'ZFPM2', 'score': 0.28}, {'connected_gene': 'ENSG00000283157', 'score': 0.18}]
chr8 GH08I104619 104619562 104620095 0.31 [{'connected_gene': 'LRP12', 'score': 12.61}, {'connected_gene': 'GC08P104611', 'score': 0.44}, {'connected_gene': 'ZFPM2', 'score': 0.31}, {'connected_gene': 'ENSG00000283157', 'score': 0.18}]
chr8 GH08I104677 104677194 104678882 0.64 [{'connected_gene': 'LRP12', 'score': 11.67}, {'connected_gene': 'ENSG00000283157', 'score': 0.31}, {'connected_gene': 'GC08P104611', 'score': 0.2}, {'connected_gene': 'ZFPM2', 'score': 0.17}]
chr8 GH08I104633 104633165 104636657 0.52 [{'connected_gene': 'LRP12', 'score': 16.69}, {'connected_gene': 'GC08P104611', 'score': 0.34}, {'connected_gene': 'ZFPM2', 'score': 0.26}, {'connected_gene': 'ENSG00000283157', 'score': 0.2}]
chr8 GH08I104624 104624494 104625990 0.31 [{'connected_gene': 'LRP12', 'score': 12.43}, {'connected_gene': 'GC08P104611', 'score': 0.39}, {'connected_gene': 'ZFPM2', 'score': 0.29}, {'connected_gene': 'ENSG00000283157', 'score': 0.18}]
chr8 GH08I104654 104654324 104655691 0.43 [{'connected_gene': 'LRP12', 'score': 11.87}, {'connected_gene': 'GC08P104611', 'score': 0.26}, {'connected_gene': 'ENSG00000283157', 'score': 0.25}, {'connected_gene': 'ZFPM2', 'score': 0.21}]
chr8 GH08I104621 104621677 104623862 1.39 [{'connected_gene': 'LRP12', 'score': 21.87}, {'connected_gene': 'GC08P104611', 'score': 0.39}, {'connected_gene': 'ZFPM2', 'score': 0.29}, {'connected_gene': 'ENSG00000283157', 'score': 0.18}]
chr8 GH08I104531 104531729 104532008 0.4 [{'connected_gene': 'LRP12', 'score': 11.98}, {'connected_gene': 'GC08M104502', 'score': 0.39}, {'connected_gene': 'NDUFA5P2', 'score': 0.29}]
chr8 GH08I104574 104574972 104575592 0.59 [{'connected_gene': 'GC08P104568', 'score': 0.44}, {'connected_gene': 'LRP12', 'score': 0.39}]