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
ENST00000418342 [[23410515, 23415546], [23417682, 23420873], [23435514, 23435701], [23495258, 23495351]] [[23415387, 23415546], [23417682, 23420754]]
ENST00000302291 [[23410522, 23415546], [23417682, 23420873], [23435514, 23435620], [23495258, 23495517], [23503983, 23504301]] [[23415387, 23415546], [23417682, 23420754]]
ENST00000314174 [[23416919, 23417391], [23417682, 23420873], [23495258, 23495310]] [[23417382, 23417391], [23417682, 23420754]]
ENST00000471849 [[23419935, 23420873], [23435514, 23435620], [23436077, 23436143], [23495258, 23495338]] [[23419935, 23420754]]
ENST00000374623 [[23410515, 23415546], [23417682, 23420873], [23435514, 23435623]] [[23415387, 23415546], [23417682, 23420754]]
ENST00000475164 [[23420647, 23420873], [23435514, 23435620], [23436077, 23436143], [23459957, 23460172]] [[23420647, 23420754]]
NM_033631 [[23410515, 23415546], [23417682, 23420873], [23435514, 23435620], [23436077, 23436143], [23495258, 23495351]] [[23415387, 23415546], [23417682, 23420754]]
NM_001142546 [[23410515, 23415546], [23417682, 23420873], [23435514, 23435620], [23495258, 23495351]] [[23415387, 23415546], [23417682, 23420754]]
Promoter
Chrom Start End Description
chr1 23495303 23495338 CAGE_peak_1_at_LUZP1_5end
chr1 23495340 23495357 CAGE_peak_2_at_LUZP1_5end
chr1 23504156 23504173 CAGE_peak_13_at_LUZP1_5end
chr1 23504176 23504203 CAGE_peak_7_at_LUZP1_5end
chr1 23504597 23504621 CAGE_peak_3_at_LUZP1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I023060 23060986 23061301 0.22 [{'connected_gene': 'LUZP1', 'score': 11.08}, {'connected_gene': 'LACTBL1', 'score': 10.07}, {'connected_gene': 'ZNF436', 'score': 1.25}, {'connected_gene': 'MIR4419A', 'score': 0.77}, {'connected_gene': 'GC01M023078', 'score': 0.37}, {'connected_gene': 'ENSG00000240553', 'score': 0.31}, {'connected_gene': 'KDM1A', 'score': 0.26}]
chr1 GH01I023176 23176928 23178887 1.65 [{'connected_gene': 'LUZP1', 'score': 563.48}, {'connected_gene': 'LACTBL1', 'score': 7.35}, {'connected_gene': 'HTR1D', 'score': 0.37}]
chr1 GH01I023282 23282573 23284617 0.97 [{'connected_gene': 'LUZP1', 'score': 10.81}, {'connected_gene': 'LACTBL1', 'score': 10.36}, {'connected_gene': 'LINC01355', 'score': 0.77}, {'connected_gene': 'GC01P023265', 'score': 0.37}]
chr1 GH01I023210 23210348 23210517 0.62 [{'connected_gene': 'LUZP1', 'score': 10.59}, {'connected_gene': 'HTR1D', 'score': 0.37}, {'connected_gene': 'RPL29P6', 'score': 0.29}]
chr1 GH01I023179 23179108 23179257 0.82 [{'connected_gene': 'LUZP1', 'score': 550.77}, {'connected_gene': 'HTR1D', 'score': 0.37}]
chr1 GH01I023166 23166076 23170599 2.25 [{'connected_gene': 'LUZP1', 'score': 563.06}, {'connected_gene': 'GC01P023167', 'score': 550.77}, {'connected_gene': 'SRSF10', 'score': 35.02}, {'connected_gene': 'ZBTB40', 'score': 24.74}, {'connected_gene': 'PNRC2', 'score': 24.28}, {'connected_gene': 'RPL11', 'score': 23.57}, {'connected_gene': 'LINC01355', 'score': 22.89}, {'connected_gene': 'HNRNPR', 'score': 22.4}, {'connected_gene': 'ELOA', 'score': 19.59}, {'connected_gene': 'LACTBL1', 'score': 9.72}]
chr1 GH01I023105 23105247 23105306 0.5 [{'connected_gene': 'LUZP1', 'score': 562.51}, {'connected_gene': 'RNU6-135P', 'score': 11.9}, {'connected_gene': 'RNU6-514P', 'score': 11.9}, {'connected_gene': 'LACTBL1', 'score': 6.82}, {'connected_gene': 'GC01M023095', 'score': 0.44}, {'connected_gene': 'ENSG00000229010', 'score': 0.28}]
chr1 GH01I023110 23110074 23112034 0.88 [{'connected_gene': 'LUZP1', 'score': 17.93}, {'connected_gene': 'RNU6-135P', 'score': 12.25}, {'connected_gene': 'RNU6-514P', 'score': 12.25}, {'connected_gene': 'GC01M023095', 'score': 0.39}, {'connected_gene': 'ENSG00000229010', 'score': 0.31}]
chr1 GH01I023112 23112201 23112400 0.43 [{'connected_gene': 'LUZP1', 'score': 12.23}, {'connected_gene': 'RNU6-135P', 'score': 12.0}, {'connected_gene': 'RNU6-514P', 'score': 12.0}, {'connected_gene': 'GC01M023095', 'score': 0.39}, {'connected_gene': 'ENSG00000229010', 'score': 0.31}]
chr1 GH01I023098 23098450 23105227 1.7 [{'connected_gene': 'LUZP1', 'score': 24.48}, {'connected_gene': 'LINC01355', 'score': 19.56}, {'connected_gene': 'SRSF10', 'score': 15.68}, {'connected_gene': 'HNRNPR', 'score': 12.03}, {'connected_gene': 'RNU6-135P', 'score': 11.89}, {'connected_gene': 'RNU6-514P', 'score': 11.89}, {'connected_gene': 'LACTBL1', 'score': 11.03}, {'connected_gene': 'GC01M023095', 'score': 0.77}, {'connected_gene': 'ENSG00000229010', 'score': 0.28}]
chr1 GH01I023122 23122124 23124491 1.05 [{'connected_gene': 'LUZP1', 'score': 12.04}, {'connected_gene': 'ENSG00000229010', 'score': 0.37}, {'connected_gene': 'GC01M023095', 'score': 0.31}]
chr1 GH01I023113 23113927 23116396 1.37 [{'connected_gene': 'LUZP1', 'score': 5.39}, {'connected_gene': 'GC01M023095', 'score': 0.37}, {'connected_gene': 'ENSG00000229010', 'score': 0.31}]
chr1 GH01I022625 22625302 22628424 0.59 [{'connected_gene': 'C1QB', 'score': 5.15}, {'connected_gene': 'LUZP1', 'score': 4.39}, {'connected_gene': 'MIR6127', 'score': 0.44}, {'connected_gene': 'EPHA8', 'score': 0.21}]
chr1 GH01I023118 23118597 23120590 1.14 [{'connected_gene': 'TCEA3', 'score': 8.88}, {'connected_gene': 'LACTBL1', 'score': 7.14}, {'connected_gene': 'LUZP1', 'score': 5.88}, {'connected_gene': 'GC01M023095', 'score': 0.34}, {'connected_gene': 'ENSG00000229010', 'score': 0.34}]
chr1 GH01I023187 23187340 23190546 1.34 [{'connected_gene': 'LACTBL1', 'score': 17.11}, {'connected_gene': 'LUZP1', 'score': 12.79}, {'connected_gene': 'RNU6-135P', 'score': 11.12}, {'connected_gene': 'RNU6-514P', 'score': 11.09}, {'connected_gene': 'HTR1D', 'score': 5.75}]
chr1 GH01I022976 22976001 22977303 1.12 [{'connected_gene': 'LACTBL1', 'score': 12.57}, {'connected_gene': 'LUZP1', 'score': 5.57}, {'connected_gene': 'GC01P022984', 'score': 0.44}]
chr1 GH01I022273 22273585 22276221 0.68 [{'connected_gene': 'WNT4', 'score': 10.92}, {'connected_gene': 'LUZP1', 'score': 4.23}, {'connected_gene': 'MIR4418', 'score': 0.44}, {'connected_gene': 'PPIAP34', 'score': 0.25}]
chr1 GH01I023193 23193019 23199351 1.99 [{'connected_gene': 'HTR1D', 'score': 558.68}, {'connected_gene': 'SRSF10', 'score': 14.49}, {'connected_gene': 'ZBTB40', 'score': 14.4}, {'connected_gene': 'PNRC2', 'score': 13.05}, {'connected_gene': 'RPL11', 'score': 12.54}, {'connected_gene': 'RNU6-135P', 'score': 10.96}, {'connected_gene': 'RNU6-514P', 'score': 10.96}, {'connected_gene': 'ELOA', 'score': 10.89}, {'connected_gene': 'LUZP1', 'score': 10.35}, {'connected_gene': 'LACTBL1', 'score': 7.37}, {'connected_gene': 'RPL29P6', 'score': 0.25}]
chr1 GH01I023224 23224450 23225891 0.84 [{'connected_gene': 'KDM1A', 'score': 10.05}, {'connected_gene': 'LACTBL1', 'score': 10.0}, {'connected_gene': 'LUZP1', 'score': 7.53}, {'connected_gene': 'HTR1D', 'score': 5.69}, {'connected_gene': 'RPL29P6', 'score': 0.37}]
chr1 GH01I023129 23129594 23130557 0.31 [{'connected_gene': 'RNU6-135P', 'score': 12.54}, {'connected_gene': 'RNU6-514P', 'score': 12.54}, {'connected_gene': 'LUZP1', 'score': 11.85}, {'connected_gene': 'LACTBL1', 'score': 9.96}, {'connected_gene': 'ENSG00000229010', 'score': 0.39}, {'connected_gene': 'GC01M023095', 'score': 0.29}]
chr1 GH01I023126 23126104 23127523 0.58 [{'connected_gene': 'RNU6-135P', 'score': 12.52}, {'connected_gene': 'RNU6-514P', 'score': 12.52}, {'connected_gene': 'LUZP1', 'score': 11.84}, {'connected_gene': 'LACTBL1', 'score': 9.96}, {'connected_gene': 'ENSG00000229010', 'score': 0.39}, {'connected_gene': 'GC01M023095', 'score': 0.31}]
chr1 GH01I023184 23184555 23185008 0.95 [{'connected_gene': 'RNU6-135P', 'score': 11.52}, {'connected_gene': 'RNU6-514P', 'score': 11.52}, {'connected_gene': 'TEX46', 'score': 10.21}, {'connected_gene': 'KDM1A', 'score': 10.21}, {'connected_gene': 'LACTBL1', 'score': 9.93}, {'connected_gene': 'LUZP1', 'score': 7.19}, {'connected_gene': 'HTR1D', 'score': 0.44}]
chr1 GH01I023124 23124596 23124687 0.63 [{'connected_gene': 'ENSG00000229010', 'score': 0.37}, {'connected_gene': 'GC01M023095', 'score': 0.31}, {'connected_gene': 'LUZP1', 'score': 0.23}]
chr1 GH01I023159 23159519 23161771 0.57 [{'connected_gene': 'GC01P023166', 'score': 0.77}, {'connected_gene': 'LUZP1', 'score': 0.37}, {'connected_gene': 'ENSG00000229010', 'score': 0.34}]
chr1 GH01I023147 23147894 23149771 0.8 [{'connected_gene': 'ENSG00000229010', 'score': 0.44}, {'connected_gene': 'GC01P023166', 'score': 0.39}, {'connected_gene': 'LUZP1', 'score': 0.31}]