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
ENST00000218867 [[23755090, 23755214], [23777833, 23778028], [23808749, 23808851], [23824768, 23824856], [23853497, 23853617], [23869553, 23869626], [23894775, 23894899], [23898506, 23899304]] [[23777833, 23778028], [23808749, 23808851], [23824768, 23824856], [23853497, 23853617], [23869553, 23869626], [23894775, 23894899], [23898506, 23898680]]
ENST00000537476 [[23755104, 23755214], [23771286, 23771315], [23777833, 23778028], [23808749, 23808851], [23824768, 23824856], [23853497, 23853617], [23869553, 23869626], [23894775, 23894899], [23898506, 23899080]] [[23777833, 23778028], [23808749, 23808851], [23824768, 23824856], [23853497, 23853617], [23869553, 23869626], [23894775, 23894899], [23898506, 23898680]]
ENST00000545013 [[23755144, 23755214], [23765385, 23765536], [23777833, 23778028], [23808749, 23808851], [23824768, 23824856], [23853497, 23853617], [23869553, 23869626], [23894775, 23894899], [23898506, 23898680]] [[23777833, 23778028], [23808749, 23808851], [23824768, 23824856], [23853497, 23853617], [23869553, 23869626], [23894775, 23894899], [23898506, 23898680]]
NM_000231 [[23755059, 23755214], [23777833, 23778028], [23808749, 23808851], [23824768, 23824856], [23853497, 23853617], [23869553, 23869626], [23894775, 23894899], [23898506, 23899304]] [[23777833, 23778028], [23808749, 23808851], [23824768, 23824856], [23853497, 23853617], [23869553, 23869626], [23894775, 23894899], [23898506, 23898680]]
Promoter
Chrom Start End Description
chr13 23755054 23755092 CAGE_peak_2_at_SGCG_5end
chr13 23755099 23755123 CAGE_peak_3_at_SGCG_5end
chr13 23755127 23755166 CAGE_peak_1_at_SGCG_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I023160 23160994 23161355 0.71 [{'connected_gene': 'SGCG', 'score': 550.77}, {'connected_gene': 'LINC00362', 'score': 0.44}]
chr13 GH13I023069 23069245 23070215 0.31 [{'connected_gene': 'SGCG', 'score': 10.42}, {'connected_gene': 'ENSG00000253094', 'score': 9.59}, {'connected_gene': 'RPL7AP73', 'score': 9.59}, {'connected_gene': 'LOC105370112', 'score': 0.21}, {'connected_gene': 'LOC105370111', 'score': 0.16}]
chr13 GH13I023180 23180454 23181747 0.7 [{'connected_gene': 'SGCG', 'score': 560.19}, {'connected_gene': 'RNU6-58P', 'score': 11.2}, {'connected_gene': 'PIR56522', 'score': 0.44}, {'connected_gene': 'LINC00362', 'score': 0.39}]
chr13 GH13I023212 23212882 23212951 0.54 [{'connected_gene': 'SGCG', 'score': 15.92}, {'connected_gene': 'RNU6-58P', 'score': 0.77}, {'connected_gene': 'PIR56522', 'score': 0.31}]
chr13 GH13I023159 23159088 23160962 1.02 [{'connected_gene': 'SGCG', 'score': 558.33}, {'connected_gene': 'TATDN2P3', 'score': 6.91}, {'connected_gene': 'RNY3P4', 'score': 0.44}, {'connected_gene': 'GC13M023153', 'score': 0.44}]
chr13 GH13I023290 23290082 23290291 0.2 [{'connected_gene': 'SGCG', 'score': 10.46}, {'connected_gene': 'SDAD1P4', 'score': 0.34}, {'connected_gene': 'RPLP1P13', 'score': 0.18}]
chr13 GH13I023574 23574115 23574482 0.22 [{'connected_gene': 'TNFRSF19', 'score': 3.23}, {'connected_gene': 'SGCG', 'score': 1.27}, {'connected_gene': 'LOC105370114', 'score': 0.11}]
chr13 GH13I023319 23319003 23325016 1.12 [{'connected_gene': 'SACS', 'score': 17.81}, {'connected_gene': 'SDAD1P4', 'score': 0.23}, {'connected_gene': 'RPLP1P13', 'score': 0.23}, {'connected_gene': 'SGCG', 'score': 0.1}]
chr13 GH13I023241 23241198 23241599 0.22 [{'connected_gene': 'TATDN2P3', 'score': 0.77}, {'connected_gene': 'RNU6-58P', 'score': 0.34}, {'connected_gene': 'SGCG', 'score': 0.18}]
chr13 GH13I023020 23020342 23020471 0.65 [{'connected_gene': 'ENSG00000253094', 'score': 10.65}, {'connected_gene': 'RPL7AP73', 'score': 10.65}, {'connected_gene': 'SGCG', 'score': 9.85}, {'connected_gene': 'LOC105370111', 'score': 0.26}, {'connected_gene': 'LOC105370112', 'score': 0.14}]