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
ENST00000356392 [[11531271, 11531615], [11531795, 11531880], [11532344, 11532500], [11533138, 11533295], [11533368, 11533529], [11534545, 11534698], [11536963, 11537086], [11537265, 11537391], [11537502, 11537604], [11537692, 11537860], [11541518, 11541596], [11541718, 11541840], [11545593, 11545925]] [[11531502, 11531615], [11531795, 11531880], [11532344, 11532500], [11533138, 11533295], [11533368, 11533529], [11534545, 11534698], [11536963, 11537086], [11537265, 11537391], [11537502, 11537604], [11537692, 11537860], [11541518, 11541596], [11541718, 11541840], [11545593, 11545837]]
ENST00000591345 [[11531271, 11531615], [11531795, 11531880], [11532344, 11532500], [11533138, 11533295], [11533368, 11533529], [11534545, 11534698], [11536963, 11537086], [11537265, 11537391], [11537502, 11537604], [11537692, 11537860], [11541518, 11541596], [11541718, 11542038], [11545282, 11545351], [11545593, 11545999]] [[11542003, 11542038], [11545282, 11545351], [11545593, 11545837]]
ENST00000591179 [[11531272, 11531615], [11531795, 11531880], [11532344, 11532500], [11533138, 11533295], [11533368, 11533529], [11534545, 11534698], [11536963, 11537086], [11537265, 11537391], [11537692, 11537860], [11541718, 11541840], [11545593, 11545942]] [[11531502, 11531615], [11531795, 11531880], [11532344, 11532500], [11533138, 11533295], [11533368, 11533529], [11534545, 11534698], [11536963, 11537086], [11537265, 11537391], [11537692, 11537860], [11541718, 11541840], [11545593, 11545837]]
ENST00000545100 [[11531272, 11531615], [11531795, 11531880], [11532344, 11532500], [11533138, 11533295], [11533368, 11533529], [11534545, 11534698], [11536963, 11537086], [11537265, 11537391], [11537502, 11537604], [11537692, 11537860], [11541518, 11541596], [11541718, 11541840], [11546510, 11546603]] [[11531502, 11531615], [11531795, 11531880], [11532344, 11532500], [11533138, 11533295], [11533368, 11533529], [11534545, 11534698], [11536963, 11537086], [11537265, 11537391], [11537502, 11537604], [11537692, 11537860], [11541518, 11541596], [11541718, 11541840], [11546510, 11546592]]
ENST00000586836 [[11531272, 11531615], [11531795, 11531880], [11532344, 11532500], [11533138, 11533295], [11533368, 11533529], [11534545, 11534698], [11536963, 11537086], [11537265, 11537391], [11537502, 11537604], [11537692, 11537860], [11541518, 11541596], [11541718, 11541840], [11546510, 11546603]] [[11531502, 11531615], [11531795, 11531880], [11532344, 11532500], [11533138, 11533295], [11533368, 11533529], [11534545, 11534698], [11536963, 11537086], [11537265, 11537391], [11537502, 11537604], [11537692, 11537731]]
ENST00000593281 [[11541378, 11541596], [11541718, 11541840], [11545593, 11545720]] None
NM_145045 [[11531271, 11531615], [11531795, 11531880], [11532344, 11532500], [11533138, 11533295], [11533368, 11533529], [11534545, 11534698], [11536963, 11537086], [11537265, 11537391], [11537502, 11537604], [11537692, 11537860], [11541518, 11541596], [11541718, 11541840], [11545593, 11545980]] [[11531502, 11531615], [11531795, 11531880], [11532344, 11532500], [11533138, 11533295], [11533368, 11533529], [11534545, 11534698], [11536963, 11537086], [11537265, 11537391], [11537502, 11537604], [11537692, 11537860], [11541518, 11541596], [11541718, 11541840], [11545593, 11545837]]
NM_001302454 [[11531272, 11531615], [11531795, 11531880], [11532344, 11532500], [11533138, 11533295], [11533368, 11533529], [11534545, 11534698], [11536963, 11537086], [11537265, 11537391], [11537692, 11537860], [11541718, 11541840], [11545593, 11545980]] [[11531502, 11531615], [11531795, 11531880], [11532344, 11532500], [11533138, 11533295], [11533368, 11533529], [11534545, 11534698], [11536963, 11537086], [11537265, 11537391], [11537692, 11537860], [11541718, 11541840], [11545593, 11545837]]
NM_001302453 [[11531272, 11531615], [11531795, 11531880], [11532344, 11532500], [11533138, 11533295], [11533368, 11533529], [11534545, 11534698], [11536963, 11537086], [11537265, 11537391], [11537502, 11537604], [11537692, 11537860], [11541518, 11541596], [11541718, 11541840], [11546510, 11546603]] [[11531502, 11531615], [11531795, 11531880], [11532344, 11532500], [11533138, 11533295], [11533368, 11533529], [11534545, 11534698], [11536963, 11537086], [11537265, 11537391], [11537502, 11537604], [11537692, 11537860], [11541518, 11541596], [11541718, 11541840], [11546510, 11546592]]
Promoter
Chrom Start End Description
chr19 11545920 11545947 CAGE_peak_1_at_CCDC151_5end
chr19 11545994 11546005 CAGE_peak_4_at_CCDC151_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
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}]
chr19 GH19I011420 11420286 11423098 1.06 [{'connected_gene': 'RGL3', 'score': 11.4}, {'connected_gene': 'CCDC151', 'score': 0.39}, {'connected_gene': 'PRKCSH', 'score': 0.39}]
chr19 GH19I011434 11434496 11436966 2.09 [{'connected_gene': 'PRKCSH', 'score': 554.78}, {'connected_gene': 'CCDC151', 'score': 550.77}, {'connected_gene': 'KRI1', 'score': 16.17}, {'connected_gene': 'ILF3', 'score': 15.4}, {'connected_gene': 'ZNF700', 'score': 14.31}, {'connected_gene': 'ZNF44', 'score': 12.79}, {'connected_gene': 'ZNF878', 'score': 12.72}, {'connected_gene': 'SWSAP1', 'score': 12.4}, {'connected_gene': 'ZNF433-AS1', 'score': 11.2}, {'connected_gene': 'ZNF20', 'score': 10.22}, {'connected_gene': 'ZNF799', 'score': 9.89}, {'connected_gene': 'ZNF136', 'score': 9.84}, {'connected_gene': 'ZNF763', 'score': 9.66}]
chr19 GH19I011530 11530201 11530801 1.37 [{'connected_gene': 'ECSIT', 'score': 550.77}, {'connected_gene': 'ZNF439', 'score': 7.72}, {'connected_gene': 'CCDC151', 'score': 5.03}, {'connected_gene': 'ELAVL3', 'score': 2.6}, {'connected_gene': 'ZNF491', 'score': 2.31}, {'connected_gene': 'ZNF653', 'score': 1.78}, {'connected_gene': 'ZNF441', 'score': 1.25}, {'connected_gene': 'GC19P011537', 'score': 0.44}]
chr19 GH19I011478 11478940 11484311 2.09 [{'connected_gene': 'ELAVL3', 'score': 554.01}, {'connected_gene': 'ILF3', 'score': 65.59}, {'connected_gene': 'KRI1', 'score': 46.61}, {'connected_gene': 'ZNF627', 'score': 46.07}, {'connected_gene': 'ZNF136', 'score': 46.0}, {'connected_gene': 'TIMM29', 'score': 37.2}, {'connected_gene': 'ZNF44', 'score': 36.93}, {'connected_gene': 'ZNF441', 'score': 35.34}, {'connected_gene': 'ENSG00000242615', 'score': 34.8}, {'connected_gene': 'ZNF700', 'score': 28.65}, {'connected_gene': 'ZNF625', 'score': 27.32}, {'connected_gene': 'ZNF799', 'score': 26.31}, {'connected_gene': 'ZNF788', 'score': 22.85}, {'connected_gene': 'ZNF844', 'score': 22.66}, {'connected_gene': 'ZNF491', 'score': 22.25}, {'connected_gene': 'PRKCSH', 'score': 22.15}, {'connected_gene': 'ZNF878', 'score': 21.77}, {'connected_gene': 'ZNF442', 'score': 21.61}, {'connected_gene': 'ZNF763', 'score': 21.08}, {'connected_gene': 'ZNF20', 'score': 16.66}, {'connected_gene': 'ZNF433', 'score': 13.92}, {'connected_gene': 'DOCK6', 'score': 13.8}, {'connected_gene': 'HNRNPA1P10', 'score': 12.39}, {'connected_gene': 'ZNF439', 'score': 11.66}, {'connected_gene': 'ILF3-AS1', 'score': 10.7}, {'connected_gene': 'SMARCA4', 'score': 10.6}, {'connected_gene': 'ZNF440', 'score': 10.43}, {'connected_gene': 'QTRT1', 'score': 10.1}, {'connected_gene': 'YIPF2', 'score': 9.86}, {'connected_gene': 'ZNF563', 'score': 9.86}, {'connected_gene': 'LOC100289333', 'score': 9.76}, {'connected_gene': 'ECSIT', 'score': 7.24}, {'connected_gene': 'CCDC151', 'score': 3.31}, {'connected_gene': 'ZNF653', 'score': 2.33}, {'connected_gene': 'GC19M011484', 'score': 0.44}, {'connected_gene': 'ENSG00000267477', 'score': 0.34}]
chr19 GH19I011452 11452484 11454996 1 [{'connected_gene': 'ELAVL3', 'score': 13.16}, {'connected_gene': 'TSPAN16', 'score': 12.11}, {'connected_gene': 'EPOR', 'score': 12.1}, {'connected_gene': 'SWSAP1', 'score': 11.34}, {'connected_gene': 'GC19M011460', 'score': 0.44}, {'connected_gene': 'CCDC151', 'score': 0.37}]
chr19 GH19I011450 11450578 11451345 0.58 [{'connected_gene': 'ELAVL3', 'score': 13.26}, {'connected_gene': 'EPOR', 'score': 12.24}, {'connected_gene': 'PRKCSH', 'score': 5.72}, {'connected_gene': 'GC19M011460', 'score': 0.39}, {'connected_gene': 'CCDC151', 'score': 0.37}]
chr19 GH19I011443 11443714 11449426 0.82 [{'connected_gene': 'ELAVL3', 'score': 13.26}, {'connected_gene': 'EPOR', 'score': 12.81}, {'connected_gene': 'TSPAN16', 'score': 11.98}, {'connected_gene': 'KANK2', 'score': 11.16}, {'connected_gene': 'PRKCSH', 'score': 6.01}, {'connected_gene': 'ENSG00000267174', 'score': 5.09}, {'connected_gene': 'CCDC159', 'score': 4.57}, {'connected_gene': 'CCDC151', 'score': 0.39}, {'connected_gene': 'GC19M011460', 'score': 0.37}]
chr19 GH19I011451 11451526 11451675 0.4 [{'connected_gene': 'ELAVL3', 'score': 13.28}, {'connected_gene': 'EPOR', 'score': 12.24}, {'connected_gene': 'CCDC159', 'score': 4.24}, {'connected_gene': 'GC19M011460', 'score': 0.39}, {'connected_gene': 'CCDC151', 'score': 0.37}]
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}]