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
ENST00000298310 [[50249996, 50251431], [50251642, 50251722], [50251809, 50251853], [50251937, 50252038], [50253435, 50253468], [50255863, 50256061], [50256213, 50256291], [50262508, 50262662], [50266192, 50266242], [50266353, 50266396], [50267137, 50267414], [50269170, 50269291], [50269386, 50269445], [50269954, 50270012], [50272738, 50272851], [50280705, 50280768], [50281471, 50281575], [50292584, 50292673], [50295008, 50295072], [50295333, 50295525], [50295771, 50295980], [50296066, 50296144], [50298016, 50298079], [50298768, 50298844], [50298924, 50298995], [50300140, 50300214], [50301080, 50301167], [50304856, 50304924], [50307435, 50307584], [50312857, 50312983], [50318280, 50318383], [50318524, 50318593], [50319412, 50319921]] [[50251353, 50251431], [50251642, 50251722], [50251809, 50251853], [50251937, 50252038], [50253435, 50253468], [50255863, 50256061], [50256213, 50256291], [50262508, 50262662], [50266192, 50266242], [50266353, 50266396], [50267137, 50267414], [50269170, 50269291], [50269386, 50269445], [50269954, 50270012], [50272738, 50272851], [50280705, 50280768], [50281471, 50281575], [50292584, 50292673], [50295008, 50295072], [50295333, 50295525], [50295771, 50295980], [50296066, 50296144], [50298016, 50298079], [50298768, 50298844], [50298924, 50298995], [50300140, 50300214], [50301080, 50301167], [50304856, 50304924], [50307435, 50307584], [50312857, 50312983], [50318280, 50318383], [50318524, 50318593], [50319412, 50319471]]
ENST00000382135 [[50250531, 50251431], [50251642, 50251722], [50251809, 50251853], [50251937, 50252038], [50253435, 50253468], [50255863, 50256061], [50256213, 50256291], [50262508, 50262662], [50262950, 50263015]] [[50251353, 50251431], [50251642, 50251722], [50251809, 50251853], [50251937, 50252038], [50253435, 50253468], [50255863, 50256061], [50256213, 50256291], [50262508, 50262662], [50262950, 50263015]]
ENST00000556691 [[50250531, 50251431], [50251642, 50251722], [50251809, 50251853], [50251937, 50252038], [50253435, 50253468], [50255863, 50256061], [50256213, 50256291], [50262508, 50262662], [50266192, 50266242], [50266353, 50266396], [50267137, 50267518]] None
ENST00000545773 [[50250531, 50251431], [50251642, 50251722], [50251809, 50251853], [50251937, 50252038], [50253435, 50253468], [50255863, 50256061], [50256213, 50256291], [50262508, 50262662], [50266192, 50266242], [50266353, 50266396], [50267137, 50267414], [50269170, 50269291], [50269386, 50269445], [50269954, 50270012], [50272738, 50272851], [50280705, 50280768], [50281471, 50281575], [50292584, 50292673], [50295008, 50295072], [50295333, 50295525], [50295771, 50295980], [50296066, 50296144], [50298016, 50298079], [50298768, 50298844], [50298924, 50298995], [50300140, 50300214], [50301080, 50301167], [50304856, 50304924], [50307435, 50307584], [50318280, 50318383], [50318524, 50318593], [50319412, 50319539]] [[50251353, 50251431], [50251642, 50251722], [50251809, 50251853], [50251937, 50252038], [50253435, 50253468], [50255863, 50256061], [50256213, 50256291], [50262508, 50262662], [50266192, 50266242], [50266353, 50266396], [50267137, 50267414], [50269170, 50269291], [50269386, 50269445], [50269954, 50270012], [50272738, 50272851], [50280705, 50280768], [50281471, 50281575], [50292584, 50292673], [50295008, 50295072], [50295333, 50295525], [50295771, 50295980], [50296066, 50296144], [50298016, 50298079], [50298768, 50298844], [50298924, 50298995], [50300140, 50300214], [50301080, 50301167], [50304856, 50304924], [50307435, 50307584], [50318280, 50318383], [50318524, 50318593], [50319412, 50319471]]
ENST00000556074 [[50250532, 50251431], [50251642, 50252038], [50253435, 50253468], [50255863, 50256061], [50256213, 50256291], [50262508, 50262662], [50262950, 50263046], [50266192, 50266242], [50266353, 50266396], [50267137, 50268237]] None
ENST00000556925 [[50250545, 50251431], [50251642, 50252038], [50253435, 50253468], [50255863, 50256061], [50256213, 50256291], [50262508, 50262662], [50262950, 50263046], [50264090, 50264183], [50266192, 50266242], [50266353, 50266396], [50267137, 50267414], [50269170, 50269291], [50269386, 50269445], [50269954, 50270012], [50272738, 50272851], [50280705, 50280768], [50281471, 50281525], [50285010, 50285139], [50292584, 50292673], [50295008, 50295072], [50295333, 50295505], [50295771, 50295980], [50296066, 50296144], [50298016, 50298079], [50298768, 50298844], [50298924, 50298971]] None
ENST00000546046 [[50250819, 50251431], [50251642, 50251722], [50251809, 50251853], [50251937, 50252038], [50253435, 50253468], [50255863, 50256061], [50256213, 50256291], [50262508, 50262662], [50266192, 50266242], [50266353, 50266396], [50267137, 50267414], [50269170, 50269291], [50269386, 50269445], [50269954, 50270012], [50272738, 50272851], [50281471, 50281575], [50292584, 50292673], [50295008, 50295072], [50295333, 50295525], [50295771, 50295980], [50296066, 50296144], [50298016, 50298079], [50298768, 50298844], [50298924, 50298995], [50300140, 50300214], [50301080, 50301167], [50304856, 50304924], [50307435, 50307584], [50312857, 50312983], [50318280, 50318383], [50318524, 50318593], [50319412, 50319498]] [[50251353, 50251431], [50251642, 50251722], [50251809, 50251853], [50251937, 50252038], [50253435, 50253468], [50255863, 50256061], [50256213, 50256291], [50262508, 50262662], [50266192, 50266242], [50266353, 50266396], [50267137, 50267414], [50269170, 50269291], [50269386, 50269445], [50269954, 50270012], [50272738, 50272851], [50281471, 50281575], [50292584, 50292673], [50295008, 50295072], [50295333, 50295525], [50295771, 50295980], [50296066, 50296144], [50298016, 50298079], [50298768, 50298844], [50298924, 50298995], [50300140, 50300214], [50301080, 50301167], [50304856, 50304924], [50307435, 50307584], [50312857, 50312983], [50318280, 50318383], [50318524, 50318593], [50319412, 50319471]]
ENST00000557193 [[50251373, 50251431], [50251642, 50251722], [50251809, 50251853], [50251937, 50252492]] None
ENST00000554275 [[50251622, 50252038], [50253435, 50253892]] None
ENST00000555970 [[50251673, 50251722], [50251809, 50251853], [50251937, 50252038], [50253435, 50253468], [50255863, 50256061], [50256213, 50256291], [50262508, 50262662], [50266192, 50266242], [50266353, 50266396], [50267137, 50267414], [50269170, 50269291], [50269386, 50269445], [50269954, 50270012], [50272738, 50272851], [50280705, 50280768], [50281471, 50281575], [50292584, 50292673], [50295008, 50295072], [50295333, 50295525], [50295771, 50295980], [50296066, 50296144], [50298016, 50298079], [50298768, 50298844], [50298924, 50298995], [50300140, 50300214], [50301080, 50301167], [50304856, 50304924], [50307435, 50307584], [50318280, 50318383], [50318524, 50318593], [50319412, 50319504]] [[50251673, 50251722], [50251809, 50251853], [50251937, 50252038], [50253435, 50253468], [50255863, 50256061], [50256213, 50256291], [50262508, 50262662], [50266192, 50266242], [50266353, 50266396], [50267137, 50267414], [50269170, 50269291], [50269386, 50269445], [50269954, 50270012], [50272738, 50272851], [50280705, 50280768], [50281471, 50281575], [50292584, 50292673], [50295008, 50295072], [50295333, 50295525], [50295771, 50295980], [50296066, 50296144], [50298016, 50298079], [50298768, 50298844], [50298924, 50298995], [50300140, 50300214], [50301080, 50301167], [50304856, 50304924], [50307435, 50307584], [50318280, 50318383], [50318524, 50318593], [50319412, 50319471]]
ENST00000555863 [[50256213, 50256291], [50262508, 50263032]] None
ENST00000555411 [[50267368, 50267414], [50269170, 50269291], [50269386, 50269445], [50269954, 50270012], [50272738, 50272851], [50281471, 50281575], [50292584, 50292656]] None
ENST00000557380 [[50286813, 50287174], [50292584, 50292673], [50295008, 50295072], [50295333, 50295525], [50295771, 50295980], [50296066, 50296144], [50298016, 50298079], [50298768, 50298844], [50298924, 50298995], [50301080, 50301167], [50304856, 50304924], [50312857, 50312983], [50318280, 50318383], [50318524, 50318593], [50319412, 50319498]] None
ENST00000553696 [[50295009, 50295072], [50295333, 50295525], [50295771, 50296068]] None
ENST00000556882 [[50295330, 50295505], [50295771, 50295982]] None
ENST00000554626 [[50301080, 50301167], [50304856, 50304924], [50307435, 50307584], [50318280, 50318383], [50318524, 50318593], [50319412, 50319506]] [[50301080, 50301167], [50304856, 50304924], [50307435, 50307584], [50318280, 50318383], [50318524, 50318593], [50319412, 50319471]]
ENST00000556672 [[50312692, 50312983], [50318280, 50318383], [50318524, 50318593], [50319412, 50319539]] [[50312848, 50312983], [50318280, 50318383], [50318524, 50318593], [50319412, 50319471]]
ENST00000554162 [[50312856, 50312983], [50316346, 50316425], [50318280, 50318383], [50318524, 50318593], [50319412, 50319526]] None
NM_004713 [[50250238, 50251431], [50251642, 50251722], [50251809, 50251853], [50251937, 50252038], [50253435, 50253468], [50255863, 50256061], [50256213, 50256291], [50262508, 50262662], [50266192, 50266242], [50266353, 50266396], [50267137, 50267414], [50269170, 50269291], [50269386, 50269445], [50269954, 50270012], [50272738, 50272851], [50280705, 50280768], [50281471, 50281575], [50292584, 50292673], [50295008, 50295072], [50295333, 50295525], [50295771, 50295980], [50296066, 50296144], [50298016, 50298079], [50298768, 50298844], [50298924, 50298995], [50300140, 50300214], [50301080, 50301167], [50304856, 50304924], [50307435, 50307584], [50312857, 50312983], [50318280, 50318383], [50318524, 50318593], [50319412, 50319921]] [[50251353, 50251431], [50251642, 50251722], [50251809, 50251853], [50251937, 50252038], [50253435, 50253468], [50255863, 50256061], [50256213, 50256291], [50262508, 50262662], [50266192, 50266242], [50266353, 50266396], [50267137, 50267414], [50269170, 50269291], [50269386, 50269445], [50269954, 50270012], [50272738, 50272851], [50280705, 50280768], [50281471, 50281575], [50292584, 50292673], [50295008, 50295072], [50295333, 50295525], [50295771, 50295980], [50296066, 50296144], [50298016, 50298079], [50298768, 50298844], [50298924, 50298995], [50300140, 50300214], [50301080, 50301167], [50304856, 50304924], [50307435, 50307584], [50312857, 50312983], [50318280, 50318383], [50318524, 50318593], [50319412, 50319471]]
NM_001301732 [[50250238, 50251431], [50251642, 50251722], [50251809, 50251853], [50251937, 50252038], [50253435, 50253468], [50255863, 50256061], [50256213, 50256291], [50262508, 50262662], [50266192, 50266242], [50266353, 50266396], [50267137, 50267414], [50269170, 50269291], [50269386, 50269445], [50269954, 50270012], [50272738, 50272851], [50281471, 50281575], [50292584, 50292673], [50295008, 50295072], [50295333, 50295525], [50295771, 50295980], [50296066, 50296144], [50298016, 50298079], [50298768, 50298844], [50298924, 50298995], [50300140, 50300214], [50301080, 50301167], [50304856, 50304924], [50307435, 50307584], [50312857, 50312983], [50318280, 50318383], [50318524, 50318593], [50319412, 50319921]] [[50251353, 50251431], [50251642, 50251722], [50251809, 50251853], [50251937, 50252038], [50253435, 50253468], [50255863, 50256061], [50256213, 50256291], [50262508, 50262662], [50266192, 50266242], [50266353, 50266396], [50267137, 50267414], [50269170, 50269291], [50269386, 50269445], [50269954, 50270012], [50272738, 50272851], [50281471, 50281575], [50292584, 50292673], [50295008, 50295072], [50295333, 50295525], [50295771, 50295980], [50296066, 50296144], [50298016, 50298079], [50298768, 50298844], [50298924, 50298995], [50300140, 50300214], [50301080, 50301167], [50304856, 50304924], [50307435, 50307584], [50312857, 50312983], [50318280, 50318383], [50318524, 50318593], [50319412, 50319471]]
Promoter
Chrom Start End Description
chr14 50319482 50319564 CAGE_peak_1_at_NEMF_5end
chr14 50319758 50319796 CAGE_peak_2_at_NEMF_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 GH14I049851 49851048 49854336 2.26 [{'connected_gene': 'NEMF', 'score': 550.77}, {'connected_gene': 'GC14M049855', 'score': 550.77}, {'connected_gene': 'RN7SL3', 'score': 550.77}, {'connected_gene': 'VCPKMT', 'score': 10.6}, {'connected_gene': 'ENSG00000282885', 'score': 5.87}, {'connected_gene': 'LRR1', 'score': 4.34}, {'connected_gene': 'RNU6-539P', 'score': 0.39}]
chr14 GH14I050816 50816401 50817200 0.89 [{'connected_gene': 'NEMF', 'score': 12.65}, {'connected_gene': 'LOC105370489', 'score': 0.44}, {'connected_gene': 'NIN', 'score': 0.39}, {'connected_gene': 'GC14M050675', 'score': 0.17}]
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 GH14I049848 49848787 49850857 0.75 [{'connected_gene': 'VCPKMT', 'score': 10.59}, {'connected_gene': 'RNU6ATAC30P', 'score': 10.16}, {'connected_gene': 'LRR1', 'score': 4.45}, {'connected_gene': 'NEMF', 'score': 0.77}, {'connected_gene': 'RNU6-539P', '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 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 GH14I049686 49686401 49686600 0.31 [{'connected_gene': 'POLE2', 'score': 550.77}, {'connected_gene': 'RNU6ATAC30P', 'score': 550.77}, {'connected_gene': 'NEMF', 'score': 12.55}, {'connected_gene': 'KLHDC2', 'score': 11.06}, {'connected_gene': 'GC14P049663', 'score': 0.34}]
chr14 GH14I050319 50319040 50322539 1.7 [{'connected_gene': 'ATP5S', 'score': 33.59}, {'connected_gene': 'KLHDC2', 'score': 12.37}, {'connected_gene': 'NEMF', 'score': 10.62}, {'connected_gene': 'SAV1', 'score': 10.58}, {'connected_gene': 'MAP4K5', 'score': 10.15}, {'connected_gene': 'CDKL1', 'score': 4.5}, {'connected_gene': 'PIR33272', 'score': 0.77}, {'connected_gene': 'L2HGDH', 'score': 0.44}]
chr14 GH14I050034 50034664 50042004 1.31 [{'connected_gene': 'KLHDC1', 'score': 13.81}, {'connected_gene': 'NEMF', 'score': 10.96}, {'connected_gene': 'DNAAF2', 'score': 9.74}, {'connected_gene': 'LINC01588', 'score': 5.12}, {'connected_gene': 'PDLIM1P1', 'score': 0.39}, {'connected_gene': 'GC14M050001', 'score': 0.28}]
chr14 GH14I050607 50607322 50609496 0.64 [{'connected_gene': 'MAP4K5', 'score': 17.58}, {'connected_gene': 'ATL1', 'score': 13.96}, {'connected_gene': 'KLHDC1', 'score': 13.78}, {'connected_gene': 'NEMF', 'score': 10.9}, {'connected_gene': 'ABHD12B', 'score': 10.04}, {'connected_gene': 'DNAAF2', 'score': 9.72}, {'connected_gene': 'NIN', 'score': 9.62}, {'connected_gene': 'TRIM9', 'score': 4.85}, {'connected_gene': 'RN7SL452P', 'score': 0.31}, {'connected_gene': 'SNRPGP1', 'score': 0.28}]
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 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 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 GH14I050446 50446614 50448152 0.77 [{'connected_gene': 'ENSG00000259113', 'score': 555.08}, {'connected_gene': 'KLHDC1', 'score': 26.38}, {'connected_gene': 'NEMF', 'score': 19.21}, {'connected_gene': 'CDKL1', 'score': 12.59}, {'connected_gene': 'ATL1', 'score': 11.33}, {'connected_gene': 'MAP4K5', 'score': 11.29}, {'connected_gene': 'DNAAF2', 'score': 9.72}]

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