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
ENST00000296666 [[126853300, 126853468], [126859151, 126859274], [126860222, 126860612], [126862309, 126862470], [126865985, 126866088], [126869314, 126869478], [126874731, 126874835], [126883510, 126883613], [126887398, 126890781]] [[126859171, 126859274], [126860222, 126860612], [126862309, 126862470], [126865985, 126866088], [126869314, 126869478], [126874731, 126874835], [126883510, 126883613], [126887398, 126887608]]
ENST00000442138 [[126853342, 126853468], [126859151, 126859274], [126860222, 126860612], [126862309, 126862470], [126865985, 126866088], [126869314, 126869478], [126874731, 126874835], [126883510, 126887843]] [[126859171, 126859274], [126860222, 126860612], [126862309, 126862470], [126865985, 126866088], [126869314, 126869478], [126874731, 126874835], [126883510, 126883742]]
ENST00000512635 [[126853347, 126853468], [126859151, 126859274], [126860222, 126860612], [126862309, 126862470], [126865985, 126866088], [126869314, 126869478], [126874731, 126874835], [126883510, 126883613], [126887398, 126887570], [126889488, 126890773]] [[126859171, 126859274], [126860222, 126860612], [126862309, 126862470], [126865985, 126866088], [126869314, 126869478], [126874731, 126874835], [126883510, 126883613], [126887398, 126887570], [126889488, 126889577]]
ENST00000512871 [[126853331, 126853468], [126859151, 126859717]] None
ENST00000507774 [[126853637, 126853691], [126859151, 126859800]] None
ENST00000513427 [[126883526, 126883613], [126887398, 126888148]] None
NM_001286808 [[126853300, 126853468], [126859151, 126859274], [126860222, 126860612], [126862309, 126862470], [126865985, 126866088], [126869314, 126869478], [126874731, 126874835], [126883510, 126883613], [126887398, 126887570], [126889488, 126890781]] [[126859171, 126859274], [126860222, 126860612], [126862309, 126862470], [126865985, 126866088], [126869314, 126869478], [126874731, 126874835], [126883510, 126883613], [126887398, 126887570], [126889488, 126889577]]
NM_130809 [[126853300, 126853468], [126859151, 126859274], [126860222, 126860612], [126862309, 126862470], [126865985, 126866088], [126869314, 126869478], [126874731, 126874835], [126883510, 126883613], [126887398, 126890781]] [[126859171, 126859274], [126860222, 126860612], [126862309, 126862470], [126865985, 126866088], [126869314, 126869478], [126874731, 126874835], [126883510, 126883613], [126887398, 126887608]]
Promoter
Chrom Start End Description
chr5 126853316 126853374 CAGE_peak_1_at_PRRC1_5end
chr5 126853376 126853407 CAGE_peak_2_at_PRRC1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I128081 128081157 128086201 2.25 [{'connected_gene': 'LINC01184', 'score': 570.88}, {'connected_gene': 'SLC12A2', 'score': 550.77}, {'connected_gene': 'PRRC1', 'score': 31.29}, {'connected_gene': 'CCDC192', 'score': 11.06}, {'connected_gene': 'GC05M128064', 'score': 0.21}]
chr5 GH05I127072 127072644 127074080 1.95 [{'connected_gene': 'C5orf63', 'score': 558.73}, {'connected_gene': 'ENSG00000279446', 'score': 550.77}, {'connected_gene': 'MARCH3', 'score': 61.56}, {'connected_gene': 'PRRC1', 'score': 11.04}]
chr5 GH05I126759 126759808 126763556 1.51 [{'connected_gene': 'PRRC1', 'score': 21.04}, {'connected_gene': 'CCDC192', 'score': 12.1}, {'connected_gene': 'PHAX', 'score': 10.57}, {'connected_gene': 'ALDH7A1', 'score': 6.34}, {'connected_gene': 'RNU6-752P', 'score': 0.44}, {'connected_gene': 'LMNB1', 'score': 0.39}, {'connected_gene': 'LMNB1-DT', 'score': 0.37}]
chr5 GH05I127847 127847994 127848680 0.62 [{'connected_gene': 'PRRC1', 'score': 24.18}, {'connected_gene': 'CCDC192', 'score': 12.18}, {'connected_gene': 'ENSG00000250603', 'score': 0.44}, {'connected_gene': 'CUL1P1', 'score': 0.21}]
chr5 GH05I127705 127705001 127705870 0.98 [{'connected_gene': 'PRRC1', 'score': 52.71}, {'connected_gene': 'LINC01184', 'score': 11.57}, {'connected_gene': 'CTXN3', 'score': 11.2}, {'connected_gene': 'CCDC192', 'score': 10.84}, {'connected_gene': 'GC05M127785', 'score': 0.18}]
chr5 GH05I127206 127206349 127206558 0.9 [{'connected_gene': 'PRRC1', 'score': 13.03}, {'connected_gene': 'LINC01184', 'score': 11.54}, {'connected_gene': 'PHAX', 'score': 11.02}, {'connected_gene': 'PIR43801', 'score': 0.44}, {'connected_gene': 'GC05M127173', 'score': 0.39}]
chr5 GH05I128201 128201001 128201800 1.06 [{'connected_gene': 'PRRC1', 'score': 14.1}, {'connected_gene': 'LINC01184', 'score': 6.3}, {'connected_gene': 'GC05P128186', 'score': 0.39}, {'connected_gene': 'GC05P128268', 'score': 0.2}]
chr5 GH05I127357 127357695 127359709 0.54 [{'connected_gene': 'PRRC1', 'score': 15.53}, {'connected_gene': 'PHAX', 'score': 10.5}, {'connected_gene': 'MARCH3', 'score': 7.51}, {'connected_gene': 'LOC105379199', 'score': 0.2}, {'connected_gene': 'ENSG00000249577', 'score': 0.14}, {'connected_gene': 'MEGF10', 'score': 0.13}]
chr5 GH05I127081 127080249 127080458 0.8 [{'connected_gene': 'PRRC1', 'score': 14.11}, {'connected_gene': 'MARCH3', 'score': 10.09}, {'connected_gene': 'ENSG00000279446', 'score': 0.44}, {'connected_gene': 'MRPS5P3', 'score': 0.21}]
chr5 GH05I127516 127516881 127519201 1.99 [{'connected_gene': 'PRRC1', 'score': 557.42}, {'connected_gene': 'ENSG00000282925', 'score': 0.19}]
chr5 GH05I126970 126970029 126973782 1.39 [{'connected_gene': 'MARCH3', 'score': 66.01}, {'connected_gene': 'PRRC1', 'score': 13.44}, {'connected_gene': 'C5orf63', 'score': 4.37}, {'connected_gene': 'GC05M127022', 'score': 0.23}, {'connected_gene': 'GC05M126868', 'score': 0.15}]
chr5 GH05I127006 127006260 127008869 0.66 [{'connected_gene': 'MARCH3', 'score': 12.44}, {'connected_gene': 'PRRC1', 'score': 12.09}, {'connected_gene': 'GC05M127022', 'score': 0.37}, {'connected_gene': 'GC05M126868', 'score': 0.12}]
chr5 GH05I127001 127001139 127003319 1.11 [{'connected_gene': 'MARCH3', 'score': 12.34}, {'connected_gene': 'PRRC1', 'score': 10.71}, {'connected_gene': 'GC05M127022', 'score': 0.34}, {'connected_gene': 'GC05M126868', 'score': 0.12}]
chr5 GH05I127290 127290000 127292233 2.07 [{'connected_gene': 'LOC105379199', 'score': 550.77}, {'connected_gene': 'MEGF10', 'score': 550.21}, {'connected_gene': 'PRRC1', 'score': 13.04}, {'connected_gene': 'MARCH3', 'score': 11.47}, {'connected_gene': 'LOC105379198', 'score': 0.21}]