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
ENST00000276603 [[73921098, 73921440], [73926129, 73926225], [73932918, 73933040], [73934450, 73934537], [73937056, 73937206], [73939174, 73939287], [73942570, 73942630], [73944276, 73944368], [73951350, 73951454], [73958195, 73958706]] [[73921121, 73921440], [73926129, 73926225], [73932918, 73933040], [73934450, 73934537], [73937056, 73937206], [73939174, 73939287], [73942570, 73942630], [73944276, 73944368], [73951350, 73951454], [73958195, 73958372]]
ENST00000276602 [[73921098, 73921440], [73926129, 73926225], [73932918, 73933040], [73934450, 73934537], [73937056, 73937206], [73939174, 73939287], [73944276, 73944368], [73951350, 73951454], [73958195, 73960357]] [[73921121, 73921440], [73926129, 73926225], [73932918, 73933040], [73934450, 73934537], [73937056, 73937206], [73939174, 73939287], [73944276, 73944368], [73951350, 73951454], [73958195, 73958372]]
ENST00000518874 [[73921111, 73921440], [73932918, 73933040], [73934450, 73934515]] [[73921121, 73921440], [73932918, 73933040], [73934450, 73934515]]
ENST00000518695 [[73921142, 73924740]] None
ENST00000517390 [[73925091, 73925166], [73926129, 73926225], [73932918, 73933040], [73934450, 73934537], [73937056, 73937206], [73939174, 73939271]] [[73925159, 73925166], [73926129, 73926225], [73932918, 73933040], [73934450, 73934537], [73937056, 73937206], [73939174, 73939271]]
ENST00000522018 [[73934467, 73934537], [73937056, 73937206], [73939174, 73939287], [73944276, 73944368], [73950940, 73951033]] None
ENST00000518961 [[73942187, 73944368], [73951350, 73951454], [73958195, 73959210]] None
ENST00000520783 [[73943847, 73944368], [73950940, 73951039]] None
NM_003218 [[73921096, 73921440], [73926129, 73926225], [73932918, 73933040], [73934450, 73934537], [73937056, 73937206], [73939174, 73939287], [73944276, 73944368], [73951350, 73951454], [73958195, 73959987]] [[73921121, 73921440], [73926129, 73926225], [73932918, 73933040], [73934450, 73934537], [73937056, 73937206], [73939174, 73939287], [73944276, 73944368], [73951350, 73951454], [73958195, 73958372]]
NM_017489 [[73921096, 73921440], [73926129, 73926225], [73932918, 73933040], [73934450, 73934537], [73937056, 73937206], [73939174, 73939287], [73942570, 73942630], [73944276, 73944368], [73951350, 73951454], [73958195, 73959987]] [[73921121, 73921440], [73926129, 73926225], [73932918, 73933040], [73934450, 73934537], [73937056, 73937206], [73939174, 73939287], [73942570, 73942630], [73944276, 73944368], [73951350, 73951454], [73958195, 73958372]]
Promoter
Chrom Start End Description
chr8 73921067 73921078 CAGE_peak_3_at_TERF1_5end
chr8 73921085 73921125 CAGE_peak_1_at_TERF1_5end
chr8 73921136 73921151 CAGE_peak_2_at_TERF1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I072693 72693200 72693251 0.22 [{'connected_gene': 'KCNB2', 'score': 11.74}, {'connected_gene': 'TERF1', 'score': 1.25}, {'connected_gene': 'LOC100419613', 'score': 0.29}, {'connected_gene': 'LOC101926908', 'score': 0.28}]
chr8 GH08I073007 73007693 73010435 2.2 [{'connected_gene': 'TERF1', 'score': 550.77}, {'connected_gene': 'ENSG00000253636', 'score': 15.67}, {'connected_gene': 'RNU6-285P', 'score': 0.44}]
chr8 GH08I072987 72987106 72987295 0.31 [{'connected_gene': 'TERF1', 'score': 0.34}, {'connected_gene': 'ENSG00000260838', 'score': 0.26}]
chr8 GH08I072994 72994066 72994295 0.38 [{'connected_gene': 'RNU6-285P', 'score': 12.06}, {'connected_gene': 'RDH10', 'score': 9.51}, {'connected_gene': 'RPL7', 'score': 9.51}, {'connected_gene': 'TERF1', 'score': 0.39}, {'connected_gene': 'ENSG00000260838', 'score': 0.25}]
chr8 GH08I073006 73006377 73007080 0.31 [{'connected_gene': 'ENSG00000253636', 'score': 27.11}, {'connected_gene': 'TERF1', 'score': 0.77}, {'connected_gene': 'ENSG00000260838', 'score': 0.22}]
chr8 GH08I072999 72999721 73000651 0.2 [{'connected_gene': 'ENSG00000253636', 'score': 6.36}, {'connected_gene': 'TERF1', 'score': 0.44}, {'connected_gene': 'ENSG00000260838', 'score': 0.23}]
chr8 GH08I073048 73048100 73049510 0.43 [{'connected_gene': 'ENSG00000253636', 'score': 23.2}, {'connected_gene': 'ENSG00000272254', 'score': 0.44}, {'connected_gene': 'TERF1', 'score': 0.28}]
chr8 GH08I073000 73000845 73004901 0.72 [{'connected_gene': 'ENSG00000253636', 'score': 25.58}, {'connected_gene': 'TERF1', 'score': 0.44}, {'connected_gene': 'ENSG00000260838', 'score': 0.22}]
chr8 GH08I072964 72964699 72966118 0.43 [{'connected_gene': 'ENSG00000260838', 'score': 0.37}, {'connected_gene': 'TERF1', 'score': 0.26}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.