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
ENST00000342944 [[24216275, 24216423], [24228985, 24229081], [24309055, 24312643]] [[24309057, 24310782]]
ENST00000594886 [[24269977, 24270139], [24274702, 24274817], [24288741, 24288868], [24289349, 24289445], [24309055, 24309347]] [[24270109, 24270139], [24274702, 24274817], [24288741, 24288758]]
ENST00000339642 [[24269985, 24270139], [24288741, 24288868], [24289349, 24289445], [24290017, 24290151]] [[24270109, 24270139], [24288741, 24288868], [24289349, 24289445], [24290017, 24290040]]
ENST00000357002 [[24269994, 24270139], [24288741, 24288868], [24289349, 24289445], [24309055, 24312654]] [[24270109, 24270139], [24288741, 24288868], [24289349, 24289445], [24309055, 24310782]]
ENST00000595187 [[24270054, 24270139], [24274702, 24274817], [24286548, 24286669], [24288741, 24288868], [24289349, 24289445], [24309055, 24309122]] [[24270109, 24270139], [24274702, 24274817], [24286548, 24286631]]
ENST00000593783 [[24286987, 24290154]] None
NM_001278663 [[24216206, 24216423], [24228985, 24229081], [24309055, 24312770]] [[24309057, 24310782]]
NM_001278661 [[24216206, 24216423], [24228985, 24229081], [24288741, 24288868], [24289349, 24289445], [24309055, 24312770]] [[24288834, 24288868], [24289349, 24289445], [24309055, 24310782]]
NM_001278677 [[24216206, 24216423], [24228985, 24229081], [24232278, 24232350], [24288741, 24288868], [24289349, 24289445], [24309055, 24312770]] [[24288834, 24288868], [24289349, 24289445], [24309055, 24310782]]
NM_001278665 [[24269961, 24270139], [24288741, 24288868], [24289349, 24289445], [24290017, 24290154]] [[24270109, 24270139], [24288741, 24288868], [24289349, 24289445], [24290017, 24290040]]
NM_001278678 [[24269961, 24270139], [24309055, 24312770]] [[24309057, 24310782]]
NM_001278664 [[24269961, 24270139], [24289349, 24289445], [24309055, 24312770]] [[24289411, 24289445], [24309055, 24310782]]
NM_203282 [[24269961, 24270139], [24288741, 24288868], [24289349, 24289445], [24309055, 24312770]] [[24270109, 24270139], [24288741, 24288868], [24289349, 24289445], [24309055, 24310782]]
NM_001278662 [[24269961, 24270139], [24274702, 24274817], [24288741, 24288868], [24289349, 24289445], [24309055, 24312770]] [[24288834, 24288868], [24289349, 24289445], [24309055, 24310782]]
Promoter
Chrom Start End Description
chr19 24216201 24216212 CAGE_peak_4_at_ZNF254_5end
chr19 24216213 24216314 CAGE_peak_1_at_ZNF254_5end
chr19 24216327 24216345 CAGE_peak_5_at_ZNF254_5end
chr19 24216347 24216356 CAGE_peak_7_at_ZNF254_5end
chr19 24269949 24269969 CAGE_peak_3_at_ZNF254_5end
chr19 24269971 24269980 CAGE_peak_6_at_ZNF254_5end
chr19 24269981 24270007 CAGE_peak_2_at_ZNF254_5end
chr19 24270027 24270034 CAGE_peak_8_at_ZNF254_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I024086 24086398 24088600 1.91 [{'connected_gene': 'ZNF254', 'score': 550.23}, {'connected_gene': 'ENSG00000279425', 'score': 0.44}, {'connected_gene': 'BNIP3P40', 'score': 0.39}]
chr19 GH19I023824 23824039 23824248 0.75 [{'connected_gene': 'ZNF254', 'score': 10.68}, {'connected_gene': 'GC19P023828', 'score': 0.77}, {'connected_gene': 'BNIP3P39', 'score': 0.34}, {'connected_gene': 'ENSG00000267924', 'score': 0.23}, {'connected_gene': 'ENSG00000233836', 'score': 0.21}, {'connected_gene': 'RPSAP58', 'score': 0.21}]
chr19 GH19I024047 24047548 24047607 0.61 [{'connected_gene': 'ZNF254', 'score': 550.39}, {'connected_gene': 'ENSG00000268362', 'score': 0.39}, {'connected_gene': 'GC19M024028', 'score': 0.39}, {'connected_gene': 'GC19P024019', 'score': 0.29}, {'connected_gene': 'ENSG00000279425', 'score': 0.29}]
chr19 GH19I024032 24032513 24035368 2.24 [{'connected_gene': 'ZNF254', 'score': 552.1}, {'connected_gene': 'ENSG00000268362', 'score': 550.77}, {'connected_gene': 'GC19P024035', 'score': 550.77}, {'connected_gene': 'GC19M024028', 'score': 0.77}, {'connected_gene': 'GC19P024019', 'score': 0.37}]
chr19 GH19I023685 23685118 23688172 1.98 [{'connected_gene': 'ZNF675', 'score': 565.25}, {'connected_gene': 'ZNF91', 'score': 19.32}, {'connected_gene': 'ENSG00000233836', 'score': 19.13}, {'connected_gene': 'ENSG00000268362', 'score': 18.72}, {'connected_gene': 'ZNF254', 'score': 15.82}, {'connected_gene': 'BNIP3P40', 'score': 10.46}, {'connected_gene': 'GC19P023634', 'score': 0.23}]
chr19 GH19I024075 24075679 24075828 0.52 [{'connected_gene': 'ENSG00000279425', 'score': 0.77}, {'connected_gene': 'GC19M024028', 'score': 0.28}, {'connected_gene': 'ZNF254', 'score': 0.26}]
chr19 GH19I024077 24077676 24079211 0.31 [{'connected_gene': 'ENSG00000279425', 'score': 550.77}, {'connected_gene': 'ZNF254', 'score': 12.65}, {'connected_gene': 'GC19M024028', 'score': 0.26}]