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
ENST00000306320 [[16473162, 16475343], [16477770, 16477897], [16478142, 16478207], [16478958, 16479096], [16481117, 16481202], [16483454, 16483581], [16565871, 16565902], [16572104, 16572211], [16616760, 16617167]] [[16474849, 16475343], [16477770, 16477897], [16478142, 16478207], [16478958, 16479096], [16481117, 16481202], [16483454, 16483581], [16565871, 16565902], [16572104, 16572211], [16616760, 16617080]]
ENST00000510362 [[16473146, 16473455], [16474757, 16475343], [16477770, 16477897], [16478142, 16478174]] [[16474849, 16475343], [16477770, 16477897], [16478142, 16478174]]
ENST00000399793 [[16473161, 16475343], [16477770, 16477897], [16478142, 16478207], [16478958, 16479096], [16481117, 16481202], [16483454, 16483581], [16508686, 16509107]] [[16474849, 16475343], [16477770, 16477897], [16478142, 16478207], [16478958, 16479096], [16481117, 16481202], [16483454, 16483581], [16508686, 16508721]]
ENST00000509977 [[16475339, 16475343], [16477770, 16477897], [16478142, 16478207], [16478958, 16479096], [16481117, 16481202], [16483454, 16483581], [16509451, 16509545]] None
ENST00000506441 [[16483105, 16483581], [16508686, 16508795]] None
ENST00000509048 [[16616187, 16616607], [16616760, 16617147]] None
Promoter
Chrom Start End Description
chr5 16508789 16508800 CAGE_peak_11_at_FAM134B_5end
chr5 16508902 16508911 CAGE_peak_16_at_FAM134B_5end
chr5 16508921 16508942 CAGE_peak_3_at_FAM134B_5end
chr5 16508944 16508960 CAGE_peak_5_at_FAM134B_5end
chr5 16508972 16508984 CAGE_peak_15_at_FAM134B_5end
chr5 16509015 16509033 CAGE_peak_6_at_FAM134B_5end
chr5 16509062 16509075 CAGE_peak_8_at_FAM134B_5end
chr5 16509101 16509113 CAGE_peak_4_at_FAM134B_5end
chr5 16617079 16617137 CAGE_peak_1_at_FAM134B_5end
chr5 16617141 16617161 CAGE_peak_7_at_FAM134B_5end
chr5 16617162 16617184 CAGE_peak_9_at_FAM134B_5end
chr5 16617201 16617269 CAGE_peak_2_at_FAM134B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I016491 16491663 16494254 1.27 [{'connected_gene': 'ZNF622', 'score': 17.46}, {'connected_gene': 'RETREG1', 'score': 8.81}, {'connected_gene': 'LOC101929524', 'score': 0.13}]
chr5 GH05I016499 16499017 16501540 0.2 [{'connected_gene': 'ZNF622', 'score': 17.85}, {'connected_gene': 'RETREG1', 'score': 5.77}, {'connected_gene': 'LOC101929524', 'score': 0.13}]
chr5 GH05I016502 16502876 16503458 0.4 [{'connected_gene': 'ZNF622', 'score': 19.42}, {'connected_gene': 'RETREG1', 'score': 6.08}, {'connected_gene': 'LOC101929524', 'score': 0.14}]
chr5 GH05I016543 16543400 16543600 0.58 [{'connected_gene': 'ZNF622', 'score': 10.81}, {'connected_gene': 'ENSG00000250415', 'score': 10.07}, {'connected_gene': 'RETREG1', 'score': 10.07}, {'connected_gene': 'LOC101929524', 'score': 0.19}]
chr5 GH05I016468 16468880 16469937 0.31 [{'connected_gene': 'ZNF622', 'score': 550.77}, {'connected_gene': 'ENSG00000250415', 'score': 9.89}, {'connected_gene': 'RETREG1', 'score': 9.89}, {'connected_gene': 'LINC02150', 'score': 9.36}, {'connected_gene': 'GC05P016465', 'score': 0.77}]
chr5 GH05I016604 16604028 16605765 0.2 [{'connected_gene': 'ZNF622', 'score': 10.01}, {'connected_gene': 'LOC101929524', 'score': 0.39}, {'connected_gene': 'RETREG1', 'score': 0.39}]
chr5 GH05I016609 16609066 16610504 0.31 [{'connected_gene': 'ZNF622', 'score': 10.01}, {'connected_gene': 'LOC101929524', 'score': 0.44}, {'connected_gene': 'RETREG1', 'score': 0.44}]
chr5 GH05I016474 16474694 16475511 0.31 [{'connected_gene': 'ZNF622', 'score': 0.77}, {'connected_gene': 'LOC101929524', 'score': 0.11}, {'connected_gene': 'RETREG1', 'score': 0.11}]
chr5 GH05I016496 16496170 16498331 0.2 [{'connected_gene': 'ZNF622', 'score': 10.81}, {'connected_gene': 'LOC101929524', 'score': 0.13}, {'connected_gene': 'RETREG1', 'score': 0.13}]
chr5 GH05I016482 16482506 16484885 0.51 [{'connected_gene': 'ZNF622', 'score': 0.39}, {'connected_gene': 'LOC101929524', 'score': 0.12}, {'connected_gene': 'RETREG1', 'score': 0.12}]
chr5 GH05I016531 16531132 16531281 0.51 [{'connected_gene': 'ZNF622', 'score': 10.4}, {'connected_gene': 'LOC101929524', 'score': 0.18}, {'connected_gene': 'RETREG1', 'score': 0.17}]
chr5 GH05I016536 16536432 16536581 0.69 [{'connected_gene': 'ZNF622', 'score': 10.78}, {'connected_gene': 'LOC101929524', 'score': 0.18}, {'connected_gene': 'RETREG1', 'score': 0.18}]
chr5 GH05I016489 16489201 16490149 1.03 [{'connected_gene': 'ZNF622', 'score': 0.37}, {'connected_gene': 'LOC101929524', 'score': 0.13}, {'connected_gene': 'RETREG1', 'score': 0.13}]
chr5 GH05I016470 16470741 16471816 0.2 [{'connected_gene': 'ZNF622', 'score': 550.77}, {'connected_gene': 'LINC02150', 'score': 13.41}, {'connected_gene': 'ENSG00000250415', 'score': 9.89}, {'connected_gene': 'RETREG1', 'score': 9.89}, {'connected_gene': 'LOC101929524', 'score': 0.11}]
chr5 GH05I016544 16544351 16546568 0.31 [{'connected_gene': 'RETREG1', 'score': 25.13}, {'connected_gene': 'ZNF622', 'score': 10.8}, {'connected_gene': 'ENSG00000250415', 'score': 10.31}, {'connected_gene': 'LOC101929524', 'score': 0.19}]
chr5 GH05I016591 16591038 16592555 0.38 [{'connected_gene': 'RETREG1', 'score': 17.1}, {'connected_gene': 'ENSG00000250415', 'score': 12.3}, {'connected_gene': 'ZNF622', 'score': 10.29}, {'connected_gene': 'ENSG00000250981', 'score': 4.77}, {'connected_gene': 'LOC101929524', 'score': 0.34}]
chr5 GH05I016561 16561493 16563266 0.38 [{'connected_gene': 'RETREG1', 'score': 21.95}, {'connected_gene': 'ENSG00000250415', 'score': 10.79}, {'connected_gene': 'ZNF622', 'score': 10.69}, {'connected_gene': 'LOC101929524', 'score': 0.23}]
chr5 GH05I016587 16587795 16590664 0.74 [{'connected_gene': 'RETREG1', 'score': 16.84}, {'connected_gene': 'ENSG00000250415', 'score': 11.16}, {'connected_gene': 'ZNF622', 'score': 10.15}, {'connected_gene': 'LOC101929524', 'score': 0.31}]
chr5 GH05I016541 16541782 16543154 0.54 [{'connected_gene': 'RETREG1', 'score': 16.25}, {'connected_gene': 'ZNF622', 'score': 10.81}, {'connected_gene': 'ENSG00000250415', 'score': 10.07}, {'connected_gene': 'LOC101929524', 'score': 0.19}]
chr5 GH05I016529 16529296 16530139 0.63 [{'connected_gene': 'RETREG1', 'score': 10.75}, {'connected_gene': 'ZNF622', 'score': 10.41}, {'connected_gene': 'LOC101929524', 'score': 0.17}]
chr5 GH05I016519 16519217 16523250 0.95 [{'connected_gene': 'RETREG1', 'score': 15.37}, {'connected_gene': 'ZNF622', 'score': 0.23}, {'connected_gene': 'LOC101929524', 'score': 0.16}]
chr5 GH05I016533 16533367 16535718 0.2 [{'connected_gene': 'RETREG1', 'score': 11.77}, {'connected_gene': 'ZNF622', 'score': 10.79}, {'connected_gene': 'LOC101929524', 'score': 0.18}]
chr5 GH05I016495 16495116 16495840 0.49 [{'connected_gene': 'RETREG1', 'score': 6.61}, {'connected_gene': 'ZNF622', 'score': 0.31}, {'connected_gene': 'LOC101929524', 'score': 0.13}]
chr5 GH05I016563 16563724 16573398 0.67 [{'connected_gene': 'RETREG1', 'score': 23.19}, {'connected_gene': 'ENSG00000250415', 'score': 10.84}, {'connected_gene': 'ZNF622', 'score': 10.68}, {'connected_gene': 'LOC101929524', 'score': 0.25}]
chr5 GH05I016505 16505996 16510558 1.72 [{'connected_gene': 'RETREG1', 'score': 566.32}, {'connected_gene': 'ZNF622', 'score': 11.26}, {'connected_gene': 'LOC101929524', 'score': 0.14}]
chr5 GH05I016584 16584422 16587360 0.46 [{'connected_gene': 'RETREG1', 'score': 15.9}, {'connected_gene': 'ENSG00000250415', 'score': 11.21}, {'connected_gene': 'ZNF622', 'score': 10.15}, {'connected_gene': 'LOC101929524', 'score': 0.29}]
chr5 GH05I016528 16528133 16529176 0.57 [{'connected_gene': 'RETREG1', 'score': 9.75}, {'connected_gene': 'ZNF622', 'score': 0.22}, {'connected_gene': 'LOC101929524', 'score': 0.17}]
chr5 GH05I016537 16537361 16541408 1.42 [{'connected_gene': 'RETREG1', 'score': 24.66}, {'connected_gene': 'ZNF622', 'score': 10.82}, {'connected_gene': 'ENSG00000250415', 'score': 10.54}, {'connected_gene': 'LOC101929524', 'score': 0.18}]
chr5 GH05I016725 16725987 16728479 1.03 [{'connected_gene': 'RETREG1', 'score': 2.83}, {'connected_gene': 'GC05M016744', 'score': 0.37}, {'connected_gene': 'PIR50692', 'score': 0.37}, {'connected_gene': 'GC05M016667', 'score': 0.21}, {'connected_gene': 'GC05P016661', 'score': 0.2}, {'connected_gene': 'MYO10', 'score': 0.08}]
chr5 GH05I016626 16626685 16628008 1.31 [{'connected_gene': 'RETREG1', 'score': 8.37}, {'connected_gene': 'LOC101929524', 'score': 5.36}, {'connected_gene': 'ZNF622', 'score': 1.4}, {'connected_gene': 'ENSG00000201370', 'score': 0.77}, {'connected_gene': 'GC05M016623', 'score': 0.77}, {'connected_gene': 'GC05P016661', 'score': 0.29}]
chr5 GH05I016547 16547001 16547200 0.69 [{'connected_gene': 'RETREG1', 'score': 15.02}, {'connected_gene': 'LOC101929524', 'score': 0.2}, {'connected_gene': 'ZNF622', 'score': 0.18}]
chr5 GH05I016553 16553531 16561483 0.57 [{'connected_gene': 'RETREG1', 'score': 12.87}, {'connected_gene': 'LOC101929524', 'score': 0.22}, {'connected_gene': 'ZNF622', 'score': 0.17}]
chr5 GH05I016577 16577907 16581785 0.63 [{'connected_gene': 'RETREG1', 'score': 4.82}, {'connected_gene': 'LOC101929524', 'score': 0.28}, {'connected_gene': 'ZNF622', 'score': 0.14}]
chr5 GH05I016551 16551031 16553487 0.67 [{'connected_gene': 'RETREG1', 'score': 12.33}, {'connected_gene': 'LOC101929524', 'score': 0.21}, {'connected_gene': 'ZNF622', 'score': 0.18}]
chr5 GH05I016574 16574145 16576059 0.97 [{'connected_gene': 'RETREG1', 'score': 12.65}, {'connected_gene': 'LOC101929524', 'score': 0.26}, {'connected_gene': 'ZNF622', 'score': 0.15}]
chr5 GH05I016548 16547951 16549047 0.51 [{'connected_gene': 'RETREG1', 'score': 15.0}, {'connected_gene': 'LOC101929524', 'score': 0.2}, {'connected_gene': 'ZNF622', 'score': 0.18}]
chr5 GH05I016629 16629002 16630487 0.85 [{'connected_gene': 'RETREG1', 'score': 8.49}, {'connected_gene': 'LOC101929524', 'score': 7.43}, {'connected_gene': 'ENSG00000201370', 'score': 0.44}, {'connected_gene': 'GC05M016623', 'score': 0.44}, {'connected_gene': 'GC05P016661', 'score': 0.29}]
chr5 GH05I016615 16615979 16618638 2.05 [{'connected_gene': 'RETREG1', 'score': 558.24}, {'connected_gene': 'LOC101929524', 'score': 557.49}, {'connected_gene': 'ENSG00000250415', 'score': 550.77}, {'connected_gene': 'ENSG00000201370', 'score': 0.44}, {'connected_gene': 'GC05M016623', 'score': 0.44}]
chr5 GH05I016599 16599254 16601570 0.56 [{'connected_gene': 'LOC101929524', 'score': 0.37}, {'connected_gene': 'RETREG1', 'score': 0.37}, {'connected_gene': 'ZNF622', 'score': 0.12}]
chr5 GH05I016578 16577652 16577840 0.84 [{'connected_gene': 'LOC101929524', 'score': 0.28}, {'connected_gene': 'RETREG1', 'score': 0.28}, {'connected_gene': 'ZNF622', 'score': 0.14}]
chr5 GH05I016549 16549612 16549761 0.4 [{'connected_gene': 'LOC101929524', 'score': 0.2}, {'connected_gene': 'RETREG1', 'score': 0.2}, {'connected_gene': 'ZNF622', 'score': 0.18}]
chr5 GH05I016550 16550432 16550581 0.95 [{'connected_gene': 'LOC101929524', 'score': 0.2}, {'connected_gene': 'RETREG1', 'score': 0.2}, {'connected_gene': 'ZNF622', 'score': 0.18}]
chr5 GH05I016481 16481169 16482261 0.31 [{'connected_gene': 'LINC02150', 'score': 14.11}, {'connected_gene': 'ZNF622', 'score': 0.39}, {'connected_gene': 'RETREG1', 'score': 0.12}, {'connected_gene': 'LOC101929524', 'score': 0.12}]
chr5 GH05I016486 16486164 16488935 0.79 [{'connected_gene': 'LINC02150', 'score': 14.77}, {'connected_gene': 'ZNF622', 'score': 0.37}, {'connected_gene': 'LOC101929524', 'score': 0.13}, {'connected_gene': 'RETREG1', 'score': 0.13}]
chr5 GH05I016596 16596752 16596901 0.4 [{'connected_gene': 'ENSG00000250415', 'score': 12.33}, {'connected_gene': 'RETREG1', 'score': 12.33}, {'connected_gene': 'ZNF622', 'score': 10.29}, {'connected_gene': 'LOC101929524', 'score': 0.37}]
chr5 GH05I016593 16593000 16594000 1.11 [{'connected_gene': 'ENSG00000250415', 'score': 12.33}, {'connected_gene': 'RETREG1', 'score': 12.33}, {'connected_gene': 'ZNF622', 'score': 10.29}, {'connected_gene': 'LOC101929524', 'score': 0.34}]
chr5 GH05I016701 16701385 16702328 0.4 [{'connected_gene': 'ENSG00000250415', 'score': 10.77}, {'connected_gene': 'RETREG1', 'score': 10.77}, {'connected_gene': 'GC05M016744', 'score': 0.26}, {'connected_gene': 'PIR50692', 'score': 0.26}, {'connected_gene': 'GC05P016661', 'score': 0.26}, {'connected_gene': 'GC05M016667', 'score': 0.17}, {'connected_gene': 'MYO10', 'score': 0.07}]
chr5 GH05I016671 16670700 16670936 0.31 [{'connected_gene': 'ENSG00000250415', 'score': 11.33}, {'connected_gene': 'RETREG1', 'score': 11.33}, {'connected_gene': 'GC05P016661', 'score': 0.44}, {'connected_gene': 'GC05M016744', 'score': 0.19}, {'connected_gene': 'PIR50692', 'score': 0.19}, {'connected_gene': 'GC05M016667', 'score': 0.13}, {'connected_gene': 'MYO10', 'score': 0.06}]
chr5 GH05I016704 16704422 16704619 0.2 [{'connected_gene': 'ENSG00000250415', 'score': 10.76}, {'connected_gene': 'RETREG1', 'score': 10.76}, {'connected_gene': 'GC05M016744', 'score': 0.28}, {'connected_gene': 'PIR50692', 'score': 0.28}, {'connected_gene': 'GC05P016661', 'score': 0.26}, {'connected_gene': 'GC05M016667', 'score': 0.17}, {'connected_gene': 'MYO10', 'score': 0.07}]
chr5 GH05I016670 16670012 16670161 0.2 [{'connected_gene': 'ENSG00000250415', 'score': 11.33}, {'connected_gene': 'RETREG1', 'score': 11.33}, {'connected_gene': 'GC05P016661', 'score': 0.44}, {'connected_gene': 'GC05M016744', 'score': 0.19}, {'connected_gene': 'PIR50692', 'score': 0.19}, {'connected_gene': 'GC05M016667', 'score': 0.13}, {'connected_gene': 'MYO10', 'score': 0.06}]
chr5 GH05I016669 16669852 16670001 0.2 [{'connected_gene': 'ENSG00000250415', 'score': 11.33}, {'connected_gene': 'RETREG1', 'score': 11.33}, {'connected_gene': 'GC05P016661', 'score': 0.44}, {'connected_gene': 'GC05M016744', 'score': 0.19}, {'connected_gene': 'PIR50692', 'score': 0.19}, {'connected_gene': 'GC05M016667', 'score': 0.13}, {'connected_gene': 'MYO10', 'score': 0.06}]
chr5 GH05I016702 16702704 16703661 0.51 [{'connected_gene': 'ENSG00000250415', 'score': 10.76}, {'connected_gene': 'RETREG1', 'score': 10.76}, {'connected_gene': 'GC05M016744', 'score': 0.26}, {'connected_gene': 'PIR50692', 'score': 0.26}, {'connected_gene': 'GC05P016661', 'score': 0.26}, {'connected_gene': 'GC05M016667', 'score': 0.17}, {'connected_gene': 'MYO10', 'score': 0.07}]

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