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
ENST00000468640 [[71276619, 71276707], [71277118, 71277362]] None
ENST00000370474 [[71276619, 71276707], [71289116, 71289269], [71298317, 71299272]] [[71276643, 71276707], [71289116, 71289269], [71298317, 71298427]]
NM_145267 [[71276624, 71276707], [71289116, 71289269], [71298317, 71298606]] [[71276643, 71276707], [71289116, 71289269], [71298317, 71298427]]
Promoter
Chrom Start End Description
chr6 71276596 71276649 CAGE_peak_1_at_C6orf57_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I070666 70666786 70669748 2.01 [{'connected_gene': 'SMAP1', 'score': 561.5}, {'connected_gene': 'SDHAF4', 'score': 11.07}, {'connected_gene': 'B3GAT2', 'score': 6.75}, {'connected_gene': 'GC06M070679', 'score': 0.34}]
chr6 GH06I070566 70566243 70567801 2.01 [{'connected_gene': 'SDHAF4', 'score': 550.77}, {'connected_gene': 'EVADR', 'score': 9.07}, {'connected_gene': 'ENSG00000271967', 'score': 0.31}]
chr6 GH06I071028 71028134 71028856 0.56 [{'connected_gene': 'SDHAF4', 'score': 4.23}, {'connected_gene': 'BECN1P2', 'score': 0.25}, {'connected_gene': 'B3GAT2', 'score': 0.19}]
chr6 GH06I070410 70410960 70416292 2.26 [{'connected_gene': 'LOC105377849', 'score': 550.77}, {'connected_gene': 'FAM135A', 'score': 550.77}, {'connected_gene': 'EVADR', 'score': 12.73}, {'connected_gene': 'SDHAF4', 'score': 8.35}, {'connected_gene': 'GC06P070410', 'score': 0.77}]
chr6 GH06I070378 70378480 70381302 0.76 [{'connected_gene': 'LOC105377848', 'score': 550.77}, {'connected_gene': 'SDHAF4', 'score': 11.83}, {'connected_gene': 'EVADR', 'score': 4.82}, {'connected_gene': 'GC06P070315', 'score': 0.21}]
chr6 GH06I070506 70506230 70509085 0.31 [{'connected_gene': 'EVADR', 'score': 9.71}, {'connected_gene': 'SDHAF4', 'score': 8.46}, {'connected_gene': 'GC06P070515', 'score': 0.77}, {'connected_gene': 'LOC105377849', 'score': 0.16}, {'connected_gene': 'FAM135A', 'score': 0.16}]
chr6 GH06I070390 70390254 70400890 1.44 [{'connected_gene': 'EVADR', 'score': 565.04}, {'connected_gene': 'SDHAF4', 'score': 5.83}, {'connected_gene': 'GC06M070386', 'score': 0.77}, {'connected_gene': 'LOC105377847', 'score': 0.77}]