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
ENST00000371996 [[89264631, 89265309], [89268092, 89268290], [89272880, 89272978], [89280792, 89280926], [89311838, 89313145]] [[89264672, 89265309], [89268092, 89268290], [89272880, 89272978], [89280792, 89280926], [89311838, 89312235]]
ENST00000371994 [[89264631, 89265309], [89268092, 89268290], [89311838, 89313145]] [[89264672, 89265309], [89268092, 89268290], [89311838, 89311942]]
ENST00000536010 [[89267589, 89267995], [89268092, 89268290], [89272880, 89272978], [89280792, 89280926], [89311838, 89313217]] [[89267961, 89267995], [89268092, 89268290], [89272880, 89272978], [89280792, 89280926], [89311838, 89312235]]
ENST00000472891 [[89280871, 89280926], [89306329, 89306452], [89311838, 89312394]] None
NM_001178117 [[89264222, 89265309], [89268092, 89268290], [89311838, 89313218]] [[89264672, 89265309], [89268092, 89268290], [89311838, 89311942]]
NM_004897 [[89264222, 89265309], [89268092, 89268290], [89272880, 89272978], [89280792, 89280926], [89311838, 89313218]] [[89264672, 89265309], [89268092, 89268290], [89272880, 89272978], [89280792, 89280926], [89311838, 89312235]]
NM_001178118 [[89267589, 89267995], [89268092, 89268290], [89272880, 89272978], [89280792, 89280926], [89311838, 89313218]] [[89267961, 89267995], [89268092, 89268290], [89272880, 89272978], [89280792, 89280926], [89311838, 89312235]]
Promoter
Chrom Start End Description
chr10 89264625 89264637 CAGE_peak_2_at_MINPP1_5end
chr10 89264642 89264665 CAGE_peak_1_at_MINPP1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I087500 87500342 87501541 1.03 [{'connected_gene': 'MINPP1', 'score': 550.77}, {'connected_gene': 'PIR60830', 'score': 550.77}, {'connected_gene': 'PAPSS2', 'score': 4.73}]
chr10 GH10I087503 87503109 87508481 2.03 [{'connected_gene': 'MINPP1', 'score': 550.77}, {'connected_gene': 'MIR4678', 'score': 550.77}, {'connected_gene': 'PAPSS2', 'score': 4.73}, {'connected_gene': 'GC10P087578', 'score': 0.19}]
chr10 GH10I087541 87541244 87541353 0.46 [{'connected_gene': 'MINPP1', 'score': 7.89}, {'connected_gene': 'MIR4678', 'score': 0.28}, {'connected_gene': 'GC10P087578', 'score': 0.28}]
chr10 GH10I087523 87523695 87524700 0.43 [{'connected_gene': 'MINPP1', 'score': 0.34}, {'connected_gene': 'MIR4678', 'score': 0.34}, {'connected_gene': 'GC10P087578', 'score': 0.23}]
chr10 GH10I087545 87545714 87548622 1 [{'connected_gene': 'PAPSS2', 'score': 16.33}, {'connected_gene': 'ENSG00000196566', 'score': 11.71}, {'connected_gene': 'MINPP1', 'score': 8.06}, {'connected_gene': 'GC10P087578', 'score': 0.29}, {'connected_gene': 'MIR4678', 'score': 0.26}]
chr10 GH10I087550 87550622 87551240 0.2 [{'connected_gene': 'PAPSS2', 'score': 10.94}, {'connected_gene': 'ENSG00000196566', 'score': 10.94}, {'connected_gene': 'MINPP1', 'score': 7.86}, {'connected_gene': 'GC10P087578', 'score': 0.31}, {'connected_gene': 'MIR4678', 'score': 0.25}]
chr10 GH10I087558 87558651 87559936 0.2 [{'connected_gene': 'PAPSS2', 'score': 5.44}, {'connected_gene': 'MINPP1', 'score': 5.32}, {'connected_gene': 'GC10P087578', 'score': 0.37}, {'connected_gene': 'MIR4678', 'score': 0.22}]
chr10 GH10I088061 88061802 88068399 1.59 [{'connected_gene': 'PTEN', 'score': 29.27}, {'connected_gene': 'KLLN', 'score': 19.14}, {'connected_gene': 'MINPP1', 'score': 5.4}, {'connected_gene': 'NUTM2D', 'score': 4.15}, {'connected_gene': 'MED6P1', 'score': 0.37}, {'connected_gene': 'GC10P088093', 'score': 0.31}, {'connected_gene': 'LOC105378415', 'score': 0.28}]
chr10 GH10I086534 86534919 86537382 1.04 [{'connected_gene': 'RNU6-780P', 'score': 11.26}, {'connected_gene': 'MINPP1', 'score': 6.37}, {'connected_gene': 'LDB3', 'score': 5.23}, {'connected_gene': 'LOC105378408', 'score': 0.77}, {'connected_gene': 'LOC105378407', 'score': 0.34}]
chr10 GH10I087533 87533601 87534001 0.82 [{'connected_gene': 'MIR4678', 'score': 0.31}, {'connected_gene': 'MINPP1', 'score': 0.29}, {'connected_gene': 'GC10P087578', 'score': 0.26}]
chr10 GH10I087534 87533224 87533472 0.43 [{'connected_gene': 'MIR4678', 'score': 0.31}, {'connected_gene': 'MINPP1', 'score': 0.29}, {'connected_gene': 'GC10P087578', 'score': 0.25}]
chr10 GH10I087532 87532844 87532993 0.38 [{'connected_gene': 'MIR4678', 'score': 0.31}, {'connected_gene': 'MINPP1', 'score': 0.29}, {'connected_gene': 'GC10P087578', 'score': 0.25}]
chr10 GH10I087544 87544784 87544933 0.49 [{'connected_gene': 'GC10P087578', 'score': 0.29}, {'connected_gene': 'MINPP1', 'score': 0.26}, {'connected_gene': 'MIR4678', 'score': 0.26}]
chr10 GH10I087531 87531982 87532713 0.46 [{'connected_gene': 'ENSG00000272631', 'score': 11.41}, {'connected_gene': 'MINPP1', 'score': 0.31}, {'connected_gene': 'MIR4678', 'score': 0.31}, {'connected_gene': 'GC10P087578', 'score': 0.25}]
chr10 GH10I087203 87203064 87205799 1.15 [{'connected_gene': 'GC10M087204', 'score': 550.77}, {'connected_gene': 'NUTM2A', 'score': 10.53}, {'connected_gene': 'FAM35A', 'score': 7.1}, {'connected_gene': 'MINPP1', 'score': 5.04}, {'connected_gene': 'LOC105378410', 'score': 0.77}, {'connected_gene': 'NUTM2A-AS1', 'score': 0.12}]