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
ENST00000226284 [[88720732, 88720785], [88723499, 88723567], [88723659, 88723710], [88723805, 88723883], [88727273, 88727336], [88731757, 88731916], [88732513, 88733074]] [[88723513, 88723567], [88723659, 88723710], [88723805, 88723883], [88727273, 88727336], [88731757, 88731916], [88732513, 88733062]]
NM_004967 [[88720701, 88720785], [88723499, 88723567], [88723659, 88723710], [88723805, 88723883], [88727273, 88727336], [88731757, 88731916], [88732513, 88733601]] [[88723513, 88723567], [88723659, 88723710], [88723805, 88723883], [88727273, 88727336], [88731757, 88731916], [88732513, 88733062]]
Promoter
Chrom Start End Description
chr4 88720698 88720722 CAGE_peak_1_at_IBSP_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I087679 87679089 87680880 0.65 [{'connected_gene': 'DMP1', 'score': 11.08}, {'connected_gene': 'DSPP', 'score': 10.2}, {'connected_gene': 'SPARCL1', 'score': 9.49}, {'connected_gene': 'IBSP', 'score': 4.85}, {'connected_gene': 'ENSG00000249001', 'score': 4.76}, {'connected_gene': 'LOC105377323', 'score': 0.44}]
chr4 GH04I087716 87716009 87718625 0.38 [{'connected_gene': 'HERC3', 'score': 5.91}, {'connected_gene': 'IBSP', 'score': 4.82}, {'connected_gene': 'ENSG00000249001', 'score': 0.37}, {'connected_gene': 'LOC105377323', 'score': 0.26}]
chr4 GH04I087832 87832920 87832979 0.5 [{'connected_gene': 'MEPE', 'score': 550.39}, {'connected_gene': 'IBSP', 'score': 10.58}, {'connected_gene': 'SPARCL1', 'score': 9.26}, {'connected_gene': 'HSP90AB3P', 'score': 0.22}]
chr4 GH04I087823 87823527 87823586 0.5 [{'connected_gene': 'MEPE', 'score': 550.77}, {'connected_gene': 'IBSP', 'score': 10.26}, {'connected_gene': 'HSP90AB3P', 'score': 0.2}]
chr4 GH04I087818 87818859 87820410 0.85 [{'connected_gene': 'MEPE', 'score': 550.77}, {'connected_gene': 'SPP1', 'score': 6.38}, {'connected_gene': 'IBSP', 'score': 0.34}]
chr4 GH04I087806 87806001 87807831 0.76 [{'connected_gene': 'IBSP', 'score': 5.26}, {'connected_gene': 'MEPE', 'score': 0.39}]
chr4 GH04I087799 87799505 87799564 0.5 [{'connected_gene': 'IBSP', 'score': 550.77}, {'connected_gene': 'CHCHD2P7', 'score': 0.39}]
chr4 GH04I087849 87849573 87850200 0.88 [{'connected_gene': 'SPP1', 'score': 22.2}, {'connected_gene': 'IBSP', 'score': 4.58}, {'connected_gene': 'HSD17B11', 'score': 1.87}, {'connected_gene': 'MEPE', 'score': 0.31}, {'connected_gene': 'HSP90AB3P', 'score': 0.26}]
chr4 GH04I087657 87657509 87660717 0.87 [{'connected_gene': 'ENSG00000249001', 'score': 11.42}, {'connected_gene': 'ENSG00000200024', 'score': 11.41}, {'connected_gene': 'DSPP', 'score': 10.93}, {'connected_gene': 'IBSP', 'score': 10.59}, {'connected_gene': 'DMP1', 'score': 0.44}, {'connected_gene': 'LOC105377323', 'score': 0.39}]
chr4 GH04I087732 87732600 87732800 0.2 [{'connected_gene': 'ENSG00000249001', 'score': 550.77}, {'connected_gene': 'DSPP', 'score': 9.44}, {'connected_gene': 'IBSP', 'score': 5.14}, {'connected_gene': 'LOC105377324', 'score': 0.44}, {'connected_gene': 'LOC105377323', 'score': 0.22}]