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
ENST00000418593 [[133065008, 133065630], [133070833, 133071004], [133072283, 133072657], [133073811, 133073888], [133076981, 133077174], [133078554, 133078685], [133078809, 133079022]] [[133072611, 133072657], [133073811, 133073888], [133076981, 133077174], [133078554, 133078685], [133078809, 133079022]]
ENST00000326499 [[133065008, 133065630], [133070833, 133071004], [133072283, 133072657], [133073599, 133073888], [133076981, 133077174], [133078554, 133078685], [133078809, 133079147]] [[133065438, 133065630], [133070833, 133071004], [133072283, 133072657], [133073599, 133073888], [133076981, 133077174], [133078554, 133078685], [133078809, 133079022]]
ENST00000422400 [[133065033, 133065630], [133070833, 133071004], [133072283, 133072657], [133073599, 133073716], [133073811, 133073888], [133076981, 133077174], [133078554, 133078685], [133078809, 133079022]] [[133073679, 133073716], [133073811, 133073888], [133076981, 133077174], [133078554, 133078685], [133078809, 133079022]]
ENST00000392389 [[133065164, 133065630], [133070833, 133071004], [133072283, 133072653], [133073599, 133073888], [133076981, 133077174], [133078554, 133078685], [133078809, 133079109]] [[133072606, 133072653], [133073599, 133073888], [133076981, 133077174], [133078554, 133078685], [133078809, 133079022]]
ENST00000525270 [[133065334, 133065630], [133070833, 133071004], [133072283, 133072657], [133073599, 133073888], [133076981, 133077174], [133078554, 133078685], [133078809, 133078898], [133084521, 133084586]] [[133065438, 133065630], [133070833, 133071004], [133072283, 133072657], [133073599, 133073888], [133076981, 133077174], [133078554, 133078685], [133078809, 133078863]]
ENST00000525674 [[133065438, 133065630], [133070833, 133071004], [133072283, 133072657], [133076981, 133077174], [133078554, 133078685], [133078809, 133079022]] [[133072606, 133072657], [133076981, 133077174], [133078554, 133078685], [133078809, 133079022]]
ENST00000528801 [[133065438, 133065630], [133070833, 133071004], [133078554, 133078685], [133078809, 133079022]] [[133070988, 133071004], [133078554, 133078685], [133078809, 133079022]]
ENST00000525289 [[133065438, 133065630], [133070833, 133071004], [133076981, 133077174], [133078554, 133078685], [133078809, 133079022]] [[133065438, 133065630], [133070833, 133071004], [133076981, 133077174], [133078554, 133078685], [133078809, 133079022]]
ENST00000532053 [[133065438, 133065630], [133070833, 133071004], [133072283, 133072417], [133076981, 133077174], [133078554, 133078685], [133078809, 133079022]] [[133072375, 133072417], [133076981, 133077174], [133078554, 133078685], [133078809, 133079022]]
ENST00000533835 [[133070887, 133071004], [133072283, 133072657], [133074556, 133074630], [133076981, 133077174], [133078554, 133078685], [133078809, 133079043]] [[133074612, 133074630], [133076981, 133077174], [133078554, 133078685], [133078809, 133079022]]
ENST00000531279 [[133073852, 133073888], [133074556, 133074630], [133076981, 133077174], [133078554, 133078685], [133078809, 133078898], [133084521, 133084569]] [[133074612, 133074630], [133076981, 133077174], [133078554, 133078685], [133078809, 133078863]]
ENST00000526157 [[133073862, 133073888], [133075014, 133075088], [133076981, 133077174], [133078554, 133078685], [133078809, 133079043]] None
ENST00000526192 [[133074591, 133074700], [133074966, 133075088], [133076981, 133077174], [133078554, 133078685], [133078809, 133079012]] None
ENST00000524919 [[133077020, 133077174], [133078554, 133078685], [133078809, 133079041], [133084521, 133084598]] [[133077020, 133077174], [133078554, 133078685], [133078809, 133079022]]
ENST00000530536 [[133077052, 133077174], [133078554, 133078685], [133078809, 133078898], [133081770, 133081942], [133084521, 133084594]] [[133077052, 133077174], [133078554, 133078685], [133078809, 133078863]]
ENST00000532012 [[133078595, 133078685], [133078809, 133079041], [133081770, 133081942], [133084521, 133084570]] [[133078595, 133078685], [133078809, 133079022]]
NR_110145 [[133065008, 133065630], [133070833, 133071004], [133072283, 133072657], [133074556, 133074630], [133076981, 133077174], [133078554, 133078685], [133078809, 133079147]] None
NM_004665 [[133065008, 133065630], [133070833, 133071004], [133072283, 133072657], [133073599, 133073888], [133076981, 133077174], [133078554, 133078685], [133078809, 133079147]] [[133065438, 133065630], [133070833, 133071004], [133072283, 133072657], [133073599, 133073888], [133076981, 133077174], [133078554, 133078685], [133078809, 133079022]]
NR_110143 [[133065008, 133065630], [133070833, 133071004], [133072283, 133072653], [133073599, 133073888], [133076981, 133077174], [133078554, 133078685], [133078809, 133079147]] None
NR_110144 [[133065008, 133065630], [133070833, 133071004], [133072283, 133072657], [133073811, 133073888], [133076981, 133077174], [133078554, 133078685], [133078809, 133079147]] None
NR_034173 [[133065008, 133065630], [133070833, 133071004], [133072283, 133072657], [133076981, 133077174], [133078554, 133078685], [133078809, 133079147]] None
NR_034174 [[133065008, 133065630], [133070833, 133071004], [133072283, 133072417], [133076981, 133077174], [133078554, 133078685], [133078809, 133079147]] None
NM_001242350 [[133065008, 133065630], [133070833, 133071004], [133076981, 133077174], [133078554, 133078685], [133078809, 133079147]] [[133065438, 133065630], [133070833, 133071004], [133076981, 133077174], [133078554, 133078685], [133078809, 133079022]]
NR_110146 [[133065008, 133065630], [133070833, 133071004], [133078554, 133078685], [133078809, 133079147]] None
NM_078488 [[133065008, 133065630], [133070833, 133071004], [133072283, 133072657], [133073599, 133073888], [133076981, 133077174], [133078554, 133078685], [133078809, 133078898], [133084521, 133084598]] [[133065438, 133065630], [133070833, 133071004], [133072283, 133072657], [133073599, 133073888], [133076981, 133077174], [133078554, 133078685], [133078809, 133078863]]
Promoter
Chrom Start End Description
chr6 133079035 133079050 CAGE_peak_1_at_VNN2_5end
chr6 133084564 133084578 CAGE_peak_3_at_VNN2_5end
chr6 133084580 133084605 CAGE_peak_2_at_VNN2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I132611 132611626 132613543 0.59 [{'connected_gene': 'TAAR5', 'score': 12.53}, {'connected_gene': 'VNN2', 'score': 4.97}, {'connected_gene': 'ENPP3', 'score': 4.71}, {'connected_gene': 'TAAR3P', 'score': 0.77}, {'connected_gene': 'TAAR2', 'score': 0.39}]
chr6 GH06I132686 132686837 132688159 0.51 [{'connected_gene': 'VNN1', 'score': 15.56}, {'connected_gene': 'ENSG00000234484', 'score': 11.66}, {'connected_gene': 'VNN3', 'score': 11.61}, {'connected_gene': 'VNN2', 'score': 11.05}, {'connected_gene': 'ENSG00000272428', 'score': 4.88}, {'connected_gene': 'CCNG1P1', 'score': 0.39}, {'connected_gene': 'HLFP1', 'score': 0.39}]
chr6 GH06I132746 132746142 132746474 0.59 [{'connected_gene': 'VNN2', 'score': 89.09}, {'connected_gene': 'STX7', 'score': 5.63}, {'connected_gene': 'SLC18B1', 'score': 4.59}, {'connected_gene': 'ENSG00000234484', 'score': 0.44}, {'connected_gene': 'VNN3', 'score': 0.39}]
chr6 GH06I132755 132755401 132759400 1.68 [{'connected_gene': 'VNN2', 'score': 613.86}, {'connected_gene': 'ENSG00000234484', 'score': 24.06}, {'connected_gene': 'VNN3', 'score': 17.77}, {'connected_gene': 'STX7', 'score': 5.81}, {'connected_gene': 'SLC18B1', 'score': 4.74}]
chr6 GH06I132748 132748532 132749800 1.24 [{'connected_gene': 'VNN2', 'score': 78.42}, {'connected_gene': 'VNN3', 'score': 16.87}, {'connected_gene': 'STX7', 'score': 6.18}, {'connected_gene': 'SLC18B1', 'score': 4.81}, {'connected_gene': 'ENSG00000234484', 'score': 0.77}]
chr6 GH06I132789 132789522 132789671 0.31 [{'connected_gene': 'VNN2', 'score': 11.24}, {'connected_gene': 'ENSG00000234484', 'score': 10.67}, {'connected_gene': 'SLC18B1', 'score': 0.37}, {'connected_gene': 'GC06M132772', 'score': 0.37}]
chr6 GH06I132790 132789142 132789291 0.2 [{'connected_gene': 'VNN2', 'score': 11.24}, {'connected_gene': 'ENSG00000234484', 'score': 10.67}, {'connected_gene': 'SLC18B1', 'score': 8.4}, {'connected_gene': 'GC06M132772', 'score': 0.37}]
chr6 GH06I132510 132510540 132514972 2.55 [{'connected_gene': 'STX7', 'score': 563.72}, {'connected_gene': 'MED23', 'score': 19.19}, {'connected_gene': 'SNORA33', 'score': 12.24}, {'connected_gene': 'LOC100421775', 'score': 10.25}, {'connected_gene': 'ENPP1', 'score': 9.86}, {'connected_gene': 'VNN2', 'score': 9.56}, {'connected_gene': 'VNN1', 'score': 2.74}, {'connected_gene': 'MOXD1', 'score': 0.14}]
chr6 GH06I132489 132489385 132492321 1.11 [{'connected_gene': 'STX7', 'score': 20.13}, {'connected_gene': 'MOXD1', 'score': 11.1}, {'connected_gene': 'VNN1', 'score': 2.72}, {'connected_gene': 'TAAR6', 'score': 1.61}, {'connected_gene': 'VNN2', 'score': 1.61}, {'connected_gene': 'TAAR5', 'score': 1.37}, {'connected_gene': 'SLC18B1', 'score': 1.27}]
chr6 GH06I132732 132732201 132735617 1.64 [{'connected_gene': 'VNN3', 'score': 576.04}, {'connected_gene': 'VNN1', 'score': 19.79}, {'connected_gene': 'ENSG00000234484', 'score': 5.26}, {'connected_gene': 'VNN2', 'score': 4.86}]
chr6 GH06I132736 132736200 132736532 0.91 [{'connected_gene': 'VNN3', 'score': 573.65}, {'connected_gene': 'VNN2', 'score': 4.28}, {'connected_gene': 'VNN1', 'score': 3.78}, {'connected_gene': 'STX7', 'score': 1.66}, {'connected_gene': 'ENSG00000234484', 'score': 0.37}]
chr6 GH06I132530 132530201 132530600 0.62 [{'connected_gene': 'SLC18B1', 'score': 11.13}, {'connected_gene': 'VNN2', 'score': 10.88}, {'connected_gene': 'TAAR9', 'score': 0.44}, {'connected_gene': 'RPL21P66', 'score': 0.39}]
chr6 GH06I132797 132797418 132800081 2.05 [{'connected_gene': 'SLC18B1', 'score': 575.41}, {'connected_gene': 'SNORA33', 'score': 10.94}, {'connected_gene': 'VNN2', 'score': 10.59}, {'connected_gene': 'GC06M132772', 'score': 0.31}]
chr6 GH06I132764 132764400 132764801 0.58 [{'connected_gene': 'RBM11P1', 'score': 550.77}, {'connected_gene': 'VNN2', 'score': 550.77}, {'connected_gene': 'VNN3', 'score': 11.74}]
chr6 GH06I132762 132762201 132764373 1.32 [{'connected_gene': 'RBM11P1', 'score': 550.77}, {'connected_gene': 'VNN2', 'score': 550.77}, {'connected_gene': 'SLC18B1', 'score': 14.71}, {'connected_gene': 'VNN1', 'score': 5.07}, {'connected_gene': 'ENSG00000234484', 'score': 0.39}]
chr6 GH06I132698 132698936 132699014 0.33 [{'connected_gene': 'CCNG1P1', 'score': 550.77}, {'connected_gene': 'VNN3', 'score': 12.2}, {'connected_gene': 'ENSG00000234484', 'score': 11.8}, {'connected_gene': 'VNN2', 'score': 11.2}, {'connected_gene': 'VNN1', 'score': 0.37}]
chr6 GH06I132669 132669828 132674050 0.92 [{'connected_gene': 'ENSG00000234484', 'score': 11.9}, {'connected_gene': 'VNN2', 'score': 11.64}, {'connected_gene': 'VNN3', 'score': 11.28}, {'connected_gene': 'SNORA33', 'score': 11.27}, {'connected_gene': 'RPS12', 'score': 11.27}, {'connected_gene': 'SNORD101', 'score': 11.27}, {'connected_gene': 'SNORD100', 'score': 11.27}, {'connected_gene': 'SLC18B1', 'score': 10.68}, {'connected_gene': 'VNN1', 'score': 7.83}, {'connected_gene': 'HLFP1', 'score': 0.77}, {'connected_gene': 'TAAR1', 'score': 0.31}]
chr6 GH06I132751 132751502 132751651 0.56 [{'connected_gene': 'ENSG00000234484', 'score': 573.9}, {'connected_gene': 'VNN2', 'score': 0.39}, {'connected_gene': 'VNN3', 'score': 0.37}]
chr6 GH06I132754 132754801 132755000 0.2 [{'connected_gene': 'ENSG00000234484', 'score': 25.67}, {'connected_gene': 'VNN2', 'score': 0.44}]
chr6 GH06I132683 132683142 132684477 0.58 [{'connected_gene': 'ENSG00000234484', 'score': 11.66}, {'connected_gene': 'VNN3', 'score': 11.59}, {'connected_gene': 'VNN2', 'score': 11.05}, {'connected_gene': 'ENSG00000272428', 'score': 4.94}, {'connected_gene': 'HLFP1', 'score': 0.44}, {'connected_gene': 'CCNG1P1', 'score': 0.39}, {'connected_gene': 'VNN1', 'score': 0.29}]

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