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
ENST00000298289 [[50085236, 50085858], [50087279, 50087403]] [[50085501, 50085822]]
NM_001001 [[50085405, 50085858], [50087279, 50087403]] [[50085501, 50085822]]
Promoter
Chrom Start End Description
chr14 50085710 50085738 CAGE_peak_2_at_RPL36AL_5end
chr14 50087312 50087365 CAGE_peak_1_at_RPL36AL_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I049830 49830243 49830372 0.52 [{'connected_gene': 'NEMF', 'score': 12.01}, {'connected_gene': 'MGAT2', 'score': 11.25}, {'connected_gene': 'RPL36AL', 'score': 11.25}, {'connected_gene': 'VCPKMT', 'score': 10.63}, {'connected_gene': 'ENSG00000277634', 'score': 0.44}, {'connected_gene': 'GC14M049783', 'score': 0.25}]
chr14 GH14I050059 50059583 50066522 1.77 [{'connected_gene': 'VCPKMT', 'score': 23.64}, {'connected_gene': 'LINC01588', 'score': 15.6}, {'connected_gene': 'KLHDC2', 'score': 12.81}, {'connected_gene': 'RNU6-189P', 'score': 10.71}, {'connected_gene': 'ATP5S', 'score': 8.74}, {'connected_gene': 'ARF6', 'score': 3.33}, {'connected_gene': 'RPL36AL', 'score': 2.15}, {'connected_gene': 'GC14P050069', 'score': 0.44}, {'connected_gene': 'RPS15AP2', 'score': 0.39}]
chr14 GH14I050071 50071132 50071350 0.77 [{'connected_gene': 'VCPKMT', 'score': 6.27}, {'connected_gene': 'LINC01588', 'score': 3.52}, {'connected_gene': 'LINC01599', 'score': 2.41}, {'connected_gene': 'RPL36AL', 'score': 1.26}, {'connected_gene': 'RN7SKP193', 'score': 0.77}, {'connected_gene': 'GC14P050088', 'score': 0.37}]
chr14 GH14I049969 49969069 49984538 1.71 [{'connected_gene': 'VCPKMT', 'score': 25.07}, {'connected_gene': 'LINC01588', 'score': 20.33}, {'connected_gene': 'RNU6-189P', 'score': 11.94}, {'connected_gene': 'RPL36AL', 'score': 6.4}, {'connected_gene': 'ARF6', 'score': 3.54}, {'connected_gene': 'NEMF', 'score': 3.1}, {'connected_gene': 'DNAAF2', 'score': 2.17}, {'connected_gene': 'ATP5S', 'score': 1.61}, {'connected_gene': 'RPS29', 'score': 1.59}, {'connected_gene': 'SOS2', 'score': 1.26}, {'connected_gene': 'GC14M049974', 'score': 0.77}, {'connected_gene': 'GC14M049971', 'score': 0.77}, {'connected_gene': 'GC14P049970', 'score': 0.44}, {'connected_gene': 'LOC105370485', 'score': 0.39}]
chr14 GH14I050095 50095379 50097671 0.95 [{'connected_gene': 'VCPKMT', 'score': 16.33}, {'connected_gene': 'RNU6-189P', 'score': 10.69}, {'connected_gene': 'SOS2', 'score': 10.38}, {'connected_gene': 'ATP5S', 'score': 9.71}, {'connected_gene': 'RPL36AL', 'score': 2.42}, {'connected_gene': 'ARF6', 'score': 2.11}, {'connected_gene': 'LINC01588', 'score': 1.97}, {'connected_gene': 'NEMF', 'score': 1.82}, {'connected_gene': 'DNAAF2', 'score': 1.6}, {'connected_gene': 'LINC01599', 'score': 0.77}]
chr14 GH14I049618 49618985 49625385 2.51 [{'connected_gene': 'RPL36AL', 'score': 599.22}, {'connected_gene': 'MGAT2', 'score': 552.16}, {'connected_gene': 'ENSG00000258377', 'score': 550.77}, {'connected_gene': 'LRR1', 'score': 37.19}, {'connected_gene': 'DNAAF2', 'score': 15.14}, {'connected_gene': 'RNU6ATAC30P', 'score': 11.15}, {'connected_gene': 'VCPKMT', 'score': 10.05}, {'connected_gene': 'RHOQP1', 'score': 6.48}, {'connected_gene': 'KLHDC2', 'score': 2.49}, {'connected_gene': 'NEMF', 'score': 2.46}, {'connected_gene': 'ARF6', 'score': 2.41}, {'connected_gene': 'RPS29', 'score': 2.26}, {'connected_gene': 'KLHDC1', 'score': 1.74}, {'connected_gene': 'RPL36AP42', 'score': 0.77}]
chr14 GH14I049582 49581683 49581832 0.31 [{'connected_gene': 'RPL36AL', 'score': 38.37}, {'connected_gene': 'RPL32P29', 'score': 0.77}, {'connected_gene': 'GC14M049586', 'score': 0.77}, {'connected_gene': 'GC14M049587', 'score': 0.77}, {'connected_gene': 'RPS29', 'score': 0.37}]
chr14 GH14I049511 49511525 49513531 0.79 [{'connected_gene': 'RPL36AL', 'score': 4.62}, {'connected_gene': 'LINC01588', 'score': 1.86}, {'connected_gene': 'RNA5SP384', 'score': 0.26}, {'connected_gene': 'GC14P049379', 'score': 0.12}]
chr14 GH14I049504 49504939 49506247 0.74 [{'connected_gene': 'RPL36AL', 'score': 9.6}, {'connected_gene': 'RNA5SP384', 'score': 0.25}, {'connected_gene': 'GC14P049379', 'score': 0.12}]
chr14 GH14I049549 49549963 49550572 0.75 [{'connected_gene': 'RPL36AL', 'score': 37.58}, {'connected_gene': 'RNA5SP384', 'score': 0.77}, {'connected_gene': 'GC14P049379', 'score': 0.1}]
chr14 GH14I049583 49583799 49587814 2.08 [{'connected_gene': 'RN7SL1', 'score': 550.77}, {'connected_gene': 'PIR42644', 'score': 550.77}, {'connected_gene': 'GC14M049586', 'score': 550.77}, {'connected_gene': 'GC14P049610', 'score': 550.77}, {'connected_gene': 'ENSG00000283029', 'score': 550.77}, {'connected_gene': 'GC14M049587', 'score': 550.77}, {'connected_gene': 'RPS29', 'score': 550.39}, {'connected_gene': 'RPL36AL', 'score': 38.77}, {'connected_gene': 'LRR1', 'score': 33.34}, {'connected_gene': 'KLHDC1', 'score': 30.05}, {'connected_gene': 'KLHDC2', 'score': 19.59}, {'connected_gene': 'NEMF', 'score': 16.7}, {'connected_gene': 'MAP4K5', 'score': 12.77}, {'connected_gene': 'POLE2', 'score': 10.61}, {'connected_gene': 'VCPKMT', 'score': 10.47}, {'connected_gene': 'RPL32P29', 'score': 0.44}]
chr14 GH14I049687 49687200 49689086 2.02 [{'connected_gene': 'POLE2', 'score': 550.77}, {'connected_gene': 'RHOQP1', 'score': 11.39}, {'connected_gene': 'VCPKMT', 'score': 10.83}, {'connected_gene': 'LRR1', 'score': 10.64}, {'connected_gene': 'RPL36AL', 'score': 4.62}, {'connected_gene': 'RNU6ATAC30P', 'score': 0.77}, {'connected_gene': 'GC14P049663', 'score': 0.31}]
chr14 GH14I049879 49879103 49885266 1.62 [{'connected_gene': 'ARF6', 'score': 6.08}, {'connected_gene': 'LINC01588', 'score': 4.9}, {'connected_gene': 'LRR1', 'score': 4.13}, {'connected_gene': 'RPL36AL', 'score': 3.07}, {'connected_gene': 'MGAT2', 'score': 1.88}, {'connected_gene': 'SOS2', 'score': 1.11}, {'connected_gene': 'LOC105378179', 'score': 0.39}]
chr14 GH14I049891 49891304 49900216 2.28 [{'connected_gene': 'ARF6', 'score': 550.77}, {'connected_gene': 'LRR1', 'score': 22.73}, {'connected_gene': 'VCPKMT', 'score': 19.6}, {'connected_gene': 'RHOQP1', 'score': 11.29}, {'connected_gene': 'POLE2', 'score': 10.54}, {'connected_gene': 'ENSG00000270062', 'score': 10.29}, {'connected_gene': 'RPL36AL', 'score': 7.64}, {'connected_gene': 'ENSG00000282885', 'score': 5.26}, {'connected_gene': 'RNU6-189P', 'score': 0.44}]
chr14 GH14I050043 50043277 50048586 1.67 [{'connected_gene': 'LINC01588', 'score': 14.78}, {'connected_gene': 'VCPKMT', 'score': 11.31}, {'connected_gene': 'ATP5S', 'score': 6.27}, {'connected_gene': 'ARF6', 'score': 5.69}, {'connected_gene': 'ENSG00000259071', 'score': 5.22}, {'connected_gene': 'RPL36AL', 'score': 2.23}, {'connected_gene': 'SOS2', 'score': 1.5}, {'connected_gene': 'PDLIM1P1', 'score': 0.77}, {'connected_gene': 'GC14M050001', 'score': 0.26}]
chr14 GH14I050030 50030671 50032857 1.19 [{'connected_gene': 'LINC01588', 'score': 15.83}, {'connected_gene': 'VCPKMT', 'score': 11.27}, {'connected_gene': 'RNU6-189P', 'score': 11.02}, {'connected_gene': 'RPL36AL', 'score': 2.84}, {'connected_gene': 'ARF6', 'score': 2.56}, {'connected_gene': 'PDLIM1P1', 'score': 0.37}, {'connected_gene': 'GC14M050001', 'score': 0.31}]
chr14 GH14I049906 49906601 49909387 1.32 [{'connected_gene': 'LINC01588', 'score': 15.36}, {'connected_gene': 'RPL36AL', 'score': 6.13}, {'connected_gene': 'ARF6', 'score': 2.91}, {'connected_gene': 'LINC01599', 'score': 1.26}, {'connected_gene': 'MGAT2', 'score': 1.18}, {'connected_gene': 'ENSG00000274704', 'score': 0.44}, {'connected_gene': 'RNU6-189P', 'score': 0.44}]
chr14 GH14I049766 49766465 49772156 2.52 [{'connected_gene': 'KLHDC2', 'score': 551.95}, {'connected_gene': 'RPL36AL', 'score': 13.61}, {'connected_gene': 'RNU6ATAC30P', 'score': 11.82}, {'connected_gene': 'POLE2', 'score': 11.41}, {'connected_gene': 'KLHDC1', 'score': 11.12}, {'connected_gene': 'LRR1', 'score': 4.74}, {'connected_gene': 'GC14M049783', 'score': 0.39}]
chr14 GH14I049594 49593628 49601412 2.28 [{'connected_gene': 'LRR1', 'score': 591.07}, {'connected_gene': 'RPS29', 'score': 550.77}, {'connected_gene': 'RPL36AL', 'score': 55.36}, {'connected_gene': 'VCPKMT', 'score': 19.56}, {'connected_gene': 'RHOQP1', 'score': 15.47}, {'connected_gene': 'MGAT2', 'score': 12.91}, {'connected_gene': 'POLE2', 'score': 10.62}, {'connected_gene': 'ENSG00000278009', 'score': 0.77}, {'connected_gene': 'ENSG00000252919', 'score': 0.44}]
chr14 GH14I049640 49640151 49642846 1.13 [{'connected_gene': 'LRR1', 'score': 18.45}, {'connected_gene': 'RHOQP1', 'score': 5.39}, {'connected_gene': 'RPL36AL', 'score': 4.51}, {'connected_gene': 'DNAAF2', 'score': 0.44}, {'connected_gene': 'GC14P049663', 'score': 0.34}]
chr14 GH14I050020 50020972 50021992 1.05 [{'connected_gene': 'RNU6-189P', 'score': 11.11}, {'connected_gene': 'VCPKMT', 'score': 10.49}, {'connected_gene': 'LINC01588', 'score': 3.49}, {'connected_gene': 'ARF6', 'score': 1.73}, {'connected_gene': 'RPL36AL', 'score': 1.38}, {'connected_gene': 'GC14M050001', 'score': 0.37}, {'connected_gene': 'PDLIM1P1', 'score': 0.31}]
chr14 GH14I049867 49867327 49871032 1.76 [{'connected_gene': 'LOC105378179', 'score': 550.77}, {'connected_gene': 'LINC01588', 'score': 16.4}, {'connected_gene': 'VCPKMT', 'score': 14.03}, {'connected_gene': 'RNU6-189P', 'score': 11.98}, {'connected_gene': 'ARF6', 'score': 8.78}, {'connected_gene': 'RPL36AL', 'score': 7.48}, {'connected_gene': 'LRR1', 'score': 6.03}, {'connected_gene': 'SOS2', 'score': 2.96}, {'connected_gene': 'NEMF', 'score': 1.63}, {'connected_gene': 'MGAT2', 'score': 1.17}]
chr14 GH14I049553 49553831 49554362 0.2 [{'connected_gene': 'RNA5SP384', 'score': 550.77}, {'connected_gene': 'RPL36AL', 'score': 37.96}, {'connected_gene': 'LRR1', 'score': 26.53}, {'connected_gene': 'GC14M049579', 'score': 0.34}]
chr14 GH14I049616 49616680 49618692 0.6 [{'connected_gene': 'RPL36AP42', 'score': 550.77}, {'connected_gene': 'RPL36AL', 'score': 32.28}, {'connected_gene': 'LRR1', 'score': 27.52}, {'connected_gene': 'RHOQP1', 'score': 5.66}, {'connected_gene': 'ENSG00000278009', 'score': 0.37}]
chr14 GH14I049997 49997251 50009919 1.81 [{'connected_gene': 'GC14M050001', 'score': 550.77}, {'connected_gene': 'VCPKMT', 'score': 15.59}, {'connected_gene': 'LINC01588', 'score': 13.49}, {'connected_gene': 'RNU6-189P', 'score': 11.95}, {'connected_gene': 'ARF6', 'score': 2.07}, {'connected_gene': 'RPL36AL', 'score': 1.51}, {'connected_gene': 'ATP5S', 'score': 1.33}, {'connected_gene': 'L2HGDH', 'score': 1.32}, {'connected_gene': 'RPS29', 'score': 1.26}, {'connected_gene': 'PDLIM1P1', 'score': 0.25}]
chr14 GH14I050080 50080660 50089596 1.57 [{'connected_gene': 'GC14P050088', 'score': 550.77}, {'connected_gene': 'ENSG00000251792', 'score': 550.77}, {'connected_gene': 'VCPKMT', 'score': 40.33}, {'connected_gene': 'RNU6-189P', 'score': 11.14}, {'connected_gene': 'DNAAF2', 'score': 10.72}, {'connected_gene': 'ATP5S', 'score': 9.0}, {'connected_gene': 'LINC01588', 'score': 4.03}, {'connected_gene': 'ARF6', 'score': 2.81}, {'connected_gene': 'KLHDC2', 'score': 2.48}, {'connected_gene': 'NEMF', 'score': 2.04}, {'connected_gene': 'SOS2', 'score': 1.96}, {'connected_gene': 'KLHDC1', 'score': 1.55}, {'connected_gene': 'RPL36AL', 'score': 1.44}, {'connected_gene': 'RPS29', 'score': 1.42}, {'connected_gene': 'LINC01599', 'score': 0.44}, {'connected_gene': 'RN7SKP193', 'score': 0.37}]
chr14 GH14I049631 49631543 49631692 0.64 [{'connected_gene': 'ENSG00000258450', 'score': 550.77}, {'connected_gene': 'RPL36AL', 'score': 35.43}, {'connected_gene': 'RNU6ATAC30P', 'score': 11.17}, {'connected_gene': 'PIR31071', 'score': 0.77}, {'connected_gene': 'DNAAF2', 'score': 0.77}]
chr14 GH14I049630 49630601 49631200 0.49 [{'connected_gene': 'ENSG00000258450', 'score': 550.77}, {'connected_gene': 'RPL36AL', 'score': 34.8}, {'connected_gene': 'RNU6ATAC30P', 'score': 11.17}, {'connected_gene': 'PIR31071', 'score': 0.77}, {'connected_gene': 'DNAAF2', 'score': 0.77}]
chr14 GH14I049917 49917882 49920716 0.57 [{'connected_gene': 'GC14P049919', 'score': 550.77}, {'connected_gene': 'RPL36AL', 'score': 5.42}, {'connected_gene': 'ENSG00000282885', 'score': 4.29}, {'connected_gene': 'ENSG00000274704', 'score': 0.44}, {'connected_gene': 'LOC100506446', 'score': 0.26}]
chr14 GH14I049632 49632000 49637013 2.28 [{'connected_gene': 'PIR31071', 'score': 550.77}, {'connected_gene': 'DNAAF2', 'score': 550.77}, {'connected_gene': 'RPL36AL', 'score': 45.58}, {'connected_gene': 'RNU6ATAC30P', 'score': 11.17}, {'connected_gene': 'STK16P1', 'score': 5.82}, {'connected_gene': 'RHOQP1', 'score': 5.62}]
chr14 GH14I049910 49910945 49912631 1.38 [{'connected_gene': 'ENSG00000274704', 'score': 550.77}, {'connected_gene': 'ARF6', 'score': 7.5}, {'connected_gene': 'RPL36AL', 'score': 3.91}, {'connected_gene': 'LINC01588', 'score': 3.38}, {'connected_gene': 'MGAT2', 'score': 2.12}, {'connected_gene': 'SOS2', 'score': 1.23}, {'connected_gene': 'RNU6-189P', 'score': 0.44}]
chr14 GH14I049860 49860010 49864578 2.1 [{'connected_gene': 'GC14M049865', 'score': 550.77}, {'connected_gene': 'GC14P049865', 'score': 550.77}, {'connected_gene': 'PIR56593', 'score': 550.77}, {'connected_gene': 'RN7SL2', 'score': 550.77}, {'connected_gene': 'GC14M049869', 'score': 550.77}, {'connected_gene': 'ENSG00000278002', 'score': 550.77}, {'connected_gene': 'KLHDC1', 'score': 74.86}, {'connected_gene': 'NEMF', 'score': 33.7}, {'connected_gene': 'MAP4K5', 'score': 21.69}, {'connected_gene': 'KLHDC2', 'score': 19.66}, {'connected_gene': 'VCPKMT', 'score': 14.91}, {'connected_gene': 'DNAAF2', 'score': 11.28}, {'connected_gene': 'LINC01588', 'score': 10.89}, {'connected_gene': 'LRR1', 'score': 4.52}, {'connected_gene': 'ARF6', 'score': 2.79}, {'connected_gene': 'RPL36AL', 'score': 1.74}, {'connected_gene': 'ENSG00000282885', 'score': 0.77}, {'connected_gene': 'LOC105378179', 'score': 0.44}, {'connected_gene': 'RN7SL3', 'score': 0.44}, {'connected_gene': 'GC14M049855', 'score': 0.44}]
chr14 GH14I049593 49593083 49593312 0.31 [{'connected_gene': 'ENSG00000252919', 'score': 550.77}, {'connected_gene': 'LRR1', 'score': 28.43}, {'connected_gene': 'MGAT2', 'score': 12.89}, {'connected_gene': 'RPL36AL', 'score': 12.89}, {'connected_gene': 'RHOQP1', 'score': 5.49}, {'connected_gene': 'RPS29', 'score': 0.44}]

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