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
ENST00000528157 [[51422477, 51422867], [51423638, 51423766], [51425167, 51425309], [51426335, 51426828]] [[51422773, 51422867], [51423638, 51423766], [51425167, 51425309], [51426335, 51426520]]
ENST00000446668 [[51422787, 51422867], [51423638, 51423766], [51424339, 51424477], [51425167, 51425309], [51426335, 51426693]] [[51422787, 51422867], [51423638, 51423766], [51424339, 51424345]]
ENST00000470900 [[51422839, 51423766], [51425167, 51425309], [51426335, 51426775]] None
ENST00000482262 [[51425118, 51425309], [51426335, 51426580]] None
NM_006010 [[51422667, 51422867], [51423638, 51423766], [51425167, 51425309], [51426335, 51426828]] [[51422764, 51422867], [51423638, 51423766], [51425167, 51425309], [51426335, 51426520]]
Promoter
Chrom Start End Description
chr3 51422713 51422728 CAGE_peak_1_at_MANF_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I051383 51383446 51392956 2.28 [{'connected_gene': 'MANF', 'score': 550.77}, {'connected_gene': 'RBM15B', 'score': 550.77}, {'connected_gene': 'PIR60056', 'score': 550.77}, {'connected_gene': 'DCAF1', 'score': 39.36}, {'connected_gene': 'RRP9', 'score': 17.48}, {'connected_gene': 'RAD54L2', 'score': 13.43}, {'connected_gene': 'TEX264', 'score': 9.71}, {'connected_gene': 'GRM2', 'score': 5.92}, {'connected_gene': 'CACNA2D2', 'score': 5.51}, {'connected_gene': 'GPR62', 'score': 4.66}, {'connected_gene': 'PCBP4', 'score': 4.5}, {'connected_gene': 'PIR52841', 'score': 0.77}, {'connected_gene': 'GC03P051392', 'score': 0.77}, {'connected_gene': 'PIR58843', 'score': 0.77}, {'connected_gene': 'PIR33911', 'score': 0.77}, {'connected_gene': 'DOCK3', 'score': 0.03}]
chr3 GH03I051379 51379320 51380133 0.51 [{'connected_gene': 'MANF', 'score': 0.44}, {'connected_gene': 'PIR61668', 'score': 0.25}, {'connected_gene': 'DOCK3', 'score': 0.03}]
chr3 GH03I051380 51380150 51380299 0.4 [{'connected_gene': 'MANF', 'score': 0.77}, {'connected_gene': 'PIR61668', 'score': 0.25}, {'connected_gene': 'DOCK3', 'score': 0.03}]
chr3 GH03I050616 50616000 50633999 2.7 [{'connected_gene': 'MAPKAPK3', 'score': 566.78}, {'connected_gene': 'DOCK3', 'score': 23.56}, {'connected_gene': 'HEMK1', 'score': 21.59}, {'connected_gene': 'C3orf18', 'score': 12.32}, {'connected_gene': 'MANF', 'score': 10.68}, {'connected_gene': 'GNAI2', 'score': 6.5}, {'connected_gene': 'LSMEM2', 'score': 5.74}, {'connected_gene': 'HYAL1', 'score': 3.89}, {'connected_gene': 'RASSF1', 'score': 3.77}, {'connected_gene': 'CYB561D2', 'score': 1.38}, {'connected_gene': 'CISH', 'score': 0.39}, {'connected_gene': 'LINC02019', 'score': 0.26}]
chr3 GH03I051339 51339062 51341982 1.23 [{'connected_gene': 'TEX264', 'score': 17.74}, {'connected_gene': 'PIR61668', 'score': 0.44}, {'connected_gene': 'MANF', 'score': 0.26}, {'connected_gene': 'DOCK3', 'score': 0.03}]
chr3 GH03I051343 51343687 51345373 0.57 [{'connected_gene': 'TEX264', 'score': 11.18}, {'connected_gene': 'PIR61668', 'score': 0.39}, {'connected_gene': 'MANF', 'score': 0.26}, {'connected_gene': 'DOCK3', 'score': 0.03}]
chr3 GH03I051355 51355777 51357707 0.52 [{'connected_gene': 'GRM2', 'score': 4.69}, {'connected_gene': 'MANF', 'score': 0.31}, {'connected_gene': 'PIR61668', 'score': 0.31}, {'connected_gene': 'DOCK3', 'score': 0.03}]
chr3 GH03I050614 50614150 50614339 1 [{'connected_gene': 'DOCK3', 'score': 19.57}, {'connected_gene': 'C3orf18', 'score': 12.35}, {'connected_gene': 'HEMK1', 'score': 12.34}, {'connected_gene': 'MANF', 'score': 10.68}, {'connected_gene': 'MAPKAPK3', 'score': 0.77}, {'connected_gene': 'CISH', 'score': 0.77}, {'connected_gene': 'LINC02019', 'score': 0.22}]
chr3 GH03I050598 50598964 50614009 3.21 [{'connected_gene': 'CISH', 'score': 557.82}, {'connected_gene': 'MAPKAPK3', 'score': 554.96}, {'connected_gene': 'HEMK1', 'score': 34.01}, {'connected_gene': 'RBM5', 'score': 31.64}, {'connected_gene': 'RBM6', 'score': 31.48}, {'connected_gene': 'TMEM115', 'score': 23.58}, {'connected_gene': 'RAD54L2', 'score': 22.02}, {'connected_gene': 'SEMA3F-AS1', 'score': 15.35}, {'connected_gene': 'C3orf18', 'score': 14.08}, {'connected_gene': 'DOCK3', 'score': 11.29}, {'connected_gene': 'RASSF1', 'score': 10.86}, {'connected_gene': 'MANF', 'score': 10.68}, {'connected_gene': 'UBA7', 'score': 10.65}, {'connected_gene': 'NAT6', 'score': 10.24}, {'connected_gene': 'TRAIP', 'score': 9.95}, {'connected_gene': 'HYAL1', 'score': 3.89}, {'connected_gene': 'ENSG00000230454', 'score': 3.87}, {'connected_gene': 'ENSG00000280382', 'score': 0.44}]