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
ENST00000251473 [[11466061, 11466248], [11467477, 11467652], [11468335, 11468415], [11470207, 11470396], [11470496, 11470632], [11471892, 11472164], [11473188, 11473365], [11474388, 11474495], [11474836, 11474888], [11475022, 11476374]] [[11468349, 11468415], [11470207, 11470396], [11470496, 11470632], [11471892, 11472164], [11473188, 11473365], [11474388, 11474495], [11474836, 11474888], [11475022, 11475055]]
ENST00000591329 [[11466099, 11466248], [11467477, 11467652], [11468294, 11468415], [11470207, 11470395]] [[11468349, 11468415], [11470207, 11470395]]
ENST00000586431 [[11466106, 11466248], [11467477, 11467652], [11468335, 11468415], [11470146, 11470384]] None
ENST00000586380 [[11466141, 11466248], [11467477, 11467652], [11468294, 11468415], [11470282, 11470396], [11470496, 11470514]] [[11468349, 11468415], [11470282, 11470396], [11470496, 11470514]]
ENST00000591608 [[11466173, 11466248], [11467477, 11467652], [11468335, 11468415], [11470282, 11470396], [11470496, 11470632], [11471892, 11472164], [11473188, 11473365], [11474388, 11474511], [11474836, 11474888], [11475022, 11476370]] [[11468349, 11468415], [11470282, 11470396], [11470496, 11470632], [11471892, 11472164], [11473188, 11473365], [11474388, 11474511], [11474836, 11474888], [11475022, 11475366]]
ENST00000588196 [[11468371, 11468415], [11470207, 11470570]] None
ENST00000587801 [[11470398, 11470632], [11471892, 11472164], [11473188, 11473365], [11474388, 11474444]] None
ENST00000588360 [[11471941, 11472164], [11473188, 11473365], [11474388, 11474891]] None
NM_001170635 [[11466061, 11466248], [11467477, 11467652], [11468335, 11468415], [11470282, 11470396], [11470496, 11470632], [11471892, 11472164], [11473188, 11473365], [11474388, 11474511], [11474836, 11474888], [11475022, 11476374]] [[11468349, 11468415], [11470282, 11470396], [11470496, 11470632], [11471892, 11472164], [11473188, 11473365], [11474388, 11474511], [11474836, 11474888], [11475022, 11475366]]
NM_022737 [[11466061, 11466248], [11467477, 11467652], [11468335, 11468415], [11470207, 11470396], [11470496, 11470632], [11471892, 11472164], [11473188, 11473365], [11474388, 11474495], [11474836, 11474888], [11475022, 11476374]] [[11468349, 11468415], [11470207, 11470396], [11470496, 11470632], [11471892, 11472164], [11473188, 11473365], [11474388, 11474495], [11474836, 11474888], [11475022, 11475055]]
Promoter
Chrom Start End Description
chr19 11466086 11466159 CAGE_peak_1_at_LPPR2_5end
chr19 11466167 11466180 CAGE_peak_2_at_LPPR2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I011354 11354785 11356637 1.96 [{'connected_gene': 'PLPPR2', 'score': 608.96}, {'connected_gene': 'ZNF627', 'score': 37.96}, {'connected_gene': 'ZNF625', 'score': 24.54}, {'connected_gene': 'ZNF441', 'score': 23.12}, {'connected_gene': 'ZNF20', 'score': 23.02}, {'connected_gene': 'ILF3', 'score': 21.75}, {'connected_gene': 'RPL18AP13', 'score': 21.28}, {'connected_gene': 'ZNF844', 'score': 21.28}, {'connected_gene': 'ZNF491', 'score': 20.97}, {'connected_gene': 'ENSG00000242615', 'score': 20.66}, {'connected_gene': 'ZNF136', 'score': 20.62}, {'connected_gene': 'ZNF439', 'score': 19.79}, {'connected_gene': 'ZNF44', 'score': 19.31}, {'connected_gene': 'QTRT1', 'score': 17.85}, {'connected_gene': 'ZNF433', 'score': 13.56}, {'connected_gene': 'ZNF763', 'score': 13.49}, {'connected_gene': 'ZNF823', 'score': 13.4}, {'connected_gene': 'KRI1', 'score': 12.86}, {'connected_gene': 'YIPF2', 'score': 12.84}, {'connected_gene': 'PRKCSH', 'score': 11.48}, {'connected_gene': 'ZNF887P', 'score': 11.18}, {'connected_gene': 'RPL28P5', 'score': 10.46}, {'connected_gene': 'ZNF700', 'score': 10.03}, {'connected_gene': 'ATG4D', 'score': 9.76}, {'connected_gene': 'RGL3', 'score': 7.2}, {'connected_gene': 'CCDC159', 'score': 0.39}, {'connected_gene': 'SWSAP1', 'score': 0.37}]
chr19 GH19I011440 11440684 11442855 0.65 [{'connected_gene': 'PLPPR2', 'score': 4.7}, {'connected_gene': 'CCDC151', 'score': 0.44}, {'connected_gene': 'PRKCSH', 'score': 0.44}, {'connected_gene': 'GC19M011460', 'score': 0.37}]
chr1 GH01I186182 186182238 186184624 1.12 [{'connected_gene': 'PRG4', 'score': 5.07}, {'connected_gene': 'ENSG00000224691', 'score': 0.44}, {'connected_gene': 'LOC105371654', 'score': 0.28}, {'connected_gene': 'HMCN1', 'score': 0.05}]
chr1 GH01I186296 186296785 186296844 0.5 [{'connected_gene': 'PRG4', 'score': 550.77}, {'connected_gene': 'LOC100131939', 'score': 5.22}, {'connected_gene': 'GC01M186320', 'score': 0.37}, {'connected_gene': 'RNU6-1240P', 'score': 0.37}]
chr1 GH01I186297 186296224 186296283 0.98 [{'connected_gene': 'PRG4', 'score': 550.77}, {'connected_gene': 'PIR58262', 'score': 0.2}]
chr1 GH01I186236 186236266 186237647 0.66 [{'connected_gene': 'PTGS2', 'score': 4.05}, {'connected_gene': 'PIR58262', 'score': 0.44}, {'connected_gene': 'PRG4', 'score': 0.22}]
chr19 GH19I011386 11386805 11387914 0.8 [{'connected_gene': 'RGL3', 'score': 20.78}, {'connected_gene': 'PLPPR2', 'score': 18.14}, {'connected_gene': 'KANK2', 'score': 5.13}, {'connected_gene': 'EPOR', 'score': 0.77}, {'connected_gene': 'GC19P011409', 'score': 0.34}]
chr19 GH19I011360 11360605 11362839 0.92 [{'connected_gene': 'RGL3', 'score': 17.44}, {'connected_gene': 'PLPPR2', 'score': 13.0}, {'connected_gene': 'EPOR', 'score': 12.19}, {'connected_gene': 'TSPAN16', 'score': 11.82}, {'connected_gene': 'SWSAP1', 'score': 0.39}]
chr1 GH01I186302 186302980 186306885 0.66 [{'connected_gene': 'ODR4', 'score': 10.8}, {'connected_gene': 'GC01M186320', 'score': 0.44}, {'connected_gene': 'RNU6-1240P', 'score': 0.44}, {'connected_gene': 'PRG4', 'score': 0.44}]
chr19 GH19I011369 11369725 11369854 0.6 [{'connected_gene': 'TMEM205', 'score': 12.65}, {'connected_gene': 'RAB3D', 'score': 12.65}, {'connected_gene': 'CCDC159', 'score': 12.63}, {'connected_gene': 'TSPAN16', 'score': 12.11}, {'connected_gene': 'SWSAP1', 'score': 0.77}, {'connected_gene': 'ENSG00000267277', 'score': 0.44}, {'connected_gene': 'PLPPR2', 'score': 0.39}]
chr19 GH19I011293 11293365 11294620 1.52 [{'connected_gene': 'ILF3', 'score': 54.09}, {'connected_gene': 'ENSG00000267174', 'score': 47.68}, {'connected_gene': 'KRI1', 'score': 41.84}, {'connected_gene': 'ZNF136', 'score': 39.14}, {'connected_gene': 'RAVER1', 'score': 29.1}, {'connected_gene': 'ZNF627', 'score': 27.83}, {'connected_gene': 'ZNF700', 'score': 27.07}, {'connected_gene': 'CDC37', 'score': 26.02}, {'connected_gene': 'ZNF844', 'score': 19.82}, {'connected_gene': 'ZNF823', 'score': 13.39}, {'connected_gene': 'ZNF763', 'score': 13.03}, {'connected_gene': 'ZNF878', 'score': 12.75}, {'connected_gene': 'ZNF625', 'score': 12.66}, {'connected_gene': 'ZNF491', 'score': 12.32}, {'connected_gene': 'ZNF439', 'score': 11.63}, {'connected_gene': 'ZNF20', 'score': 11.59}, {'connected_gene': 'ZNF887P', 'score': 11.17}, {'connected_gene': 'PRKCSH', 'score': 11.08}, {'connected_gene': 'ZNF441', 'score': 10.79}, {'connected_gene': 'SWSAP1', 'score': 10.59}, {'connected_gene': 'RPL28P5', 'score': 10.46}, {'connected_gene': 'TYK2', 'score': 10.41}, {'connected_gene': 'ZNF433-AS1', 'score': 10.02}, {'connected_gene': 'ATG4D', 'score': 9.76}, {'connected_gene': 'QTRT1', 'score': 9.73}, {'connected_gene': 'ENSG00000242615', 'score': 9.73}, {'connected_gene': 'RPL18AP13', 'score': 9.7}, {'connected_gene': 'PLPPR2', 'score': 8.03}, {'connected_gene': 'EPOR', 'score': 6.92}, {'connected_gene': 'DOCK6', 'score': 5.8}, {'connected_gene': 'CCDC159', 'score': 4.31}, {'connected_gene': 'C19orf38', 'score': 3.43}, {'connected_gene': 'ACP5', 'score': 1.5}, {'connected_gene': 'TSPAN16', 'score': 0.77}]
chr19 GH19I011179 11179612 11180801 1.1 [{'connected_gene': 'SPC24', 'score': 12.89}, {'connected_gene': 'PLPPR2', 'score': 5.95}, {'connected_gene': 'GC19P011173', 'score': 0.44}, {'connected_gene': 'KANK2', 'score': 0.37}]
chr1 GH01I186288 186288433 186288598 0.86 [{'connected_gene': 'RNU6-1240P', 'score': 10.29}, {'connected_gene': 'PRG4', 'score': 0.44}, {'connected_gene': 'PIR58262', 'score': 0.21}]
chr1 GH01I186177 186177830 186180137 0.59 [{'connected_gene': 'ENSG00000224691', 'score': 550.77}, {'connected_gene': 'PRG4', 'score': 5.59}, {'connected_gene': 'LOC105371654', 'score': 0.26}, {'connected_gene': 'HMCN1', 'score': 0.04}]
chr19 GH19I011373 11373205 11379434 2.53 [{'connected_gene': 'PIR61774', 'score': 550.77}, {'connected_gene': 'ENSG00000267277', 'score': 550.77}, {'connected_gene': 'SWSAP1', 'score': 550.77}, {'connected_gene': 'ILF3', 'score': 48.6}, {'connected_gene': 'KRI1', 'score': 43.59}, {'connected_gene': 'ZNF627', 'score': 37.21}, {'connected_gene': 'ZNF136', 'score': 35.31}, {'connected_gene': 'ZNF442', 'score': 35.14}, {'connected_gene': 'ZNF844', 'score': 34.32}, {'connected_gene': 'ZNF44', 'score': 29.56}, {'connected_gene': 'TIMM29', 'score': 29.24}, {'connected_gene': 'ZNF625', 'score': 24.43}, {'connected_gene': 'ZNF823', 'score': 23.77}, {'connected_gene': 'ZNF491', 'score': 23.26}, {'connected_gene': 'ZNF563', 'score': 22.85}, {'connected_gene': 'ZNF20', 'score': 21.65}, {'connected_gene': 'ZNF763', 'score': 18.75}, {'connected_gene': 'ZNF441', 'score': 12.34}, {'connected_gene': 'TMEM205', 'score': 12.2}, {'connected_gene': 'CCDC159', 'score': 12.18}, {'connected_gene': 'RAB3D', 'score': 12.18}, {'connected_gene': 'YIPF2', 'score': 12.07}, {'connected_gene': 'ZNF878', 'score': 11.83}, {'connected_gene': 'HNRNPA1P10', 'score': 11.52}, {'connected_gene': 'ZNF887P', 'score': 11.18}, {'connected_gene': 'CARM1', 'score': 10.9}, {'connected_gene': 'ZNF700', 'score': 10.41}, {'connected_gene': 'RPL18AP13', 'score': 9.74}, {'connected_gene': 'QTRT1', 'score': 9.73}, {'connected_gene': 'CDC37', 'score': 9.73}, {'connected_gene': 'PLPPR2', 'score': 7.81}, {'connected_gene': 'ELAVL3', 'score': 6.16}, {'connected_gene': 'PRKCSH', 'score': 5.16}, {'connected_gene': 'ZNF439', 'score': 2.17}, {'connected_gene': 'CCDC151', 'score': 2.05}, {'connected_gene': 'ZNF653', 'score': 2.01}, {'connected_gene': 'SMARCA4', 'score': 1.58}, {'connected_gene': 'EPOR', 'score': 0.44}]
chr1 GH01I185559 185559708 185561202 1.18 [{'connected_gene': 'GC01M185557', 'score': 550.77}, {'connected_gene': 'LINC01350', 'score': 17.16}, {'connected_gene': 'IVNS1ABP', 'score': 11.32}, {'connected_gene': 'PRG4', 'score': 4.53}, {'connected_gene': 'GC01P185628', 'score': 0.2}]