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
ENST00000405204 [[107349406, 107350001], [107360952, 107361434], [107365463, 107365536], [107372260, 107372544]] [[107360964, 107361434], [107365463, 107365536], [107372260, 107372440]]
ENST00000443043 [[107349406, 107350001], [107351228, 107351311], [107360952, 107361434], [107365463, 107365536], [107372260, 107372544]] [[107351308, 107351311], [107360952, 107361434], [107365463, 107365536], [107372260, 107372440]]
ENST00000311381 [[107349416, 107349475], [107360952, 107361434], [107365463, 107365536], [107372260, 107372546]] [[107360964, 107361434], [107365463, 107365536], [107372260, 107372440]]
ENST00000489790 [[107361195, 107361434], [107361584, 107362111]] None
NM_016487 [[107349375, 107349475], [107360952, 107361434], [107365463, 107365536], [107372260, 107372790]] [[107360964, 107361434], [107365463, 107365536], [107372260, 107372440]]
NM_001142468 [[107349375, 107350001], [107360952, 107361434], [107365463, 107365536], [107372260, 107372790]] [[107360964, 107361434], [107365463, 107365536], [107372260, 107372440]]
NM_001142470 [[107349375, 107350001], [107351228, 107351311], [107360952, 107361434], [107365463, 107365536], [107372260, 107372790]] [[107351308, 107351311], [107360952, 107361434], [107365463, 107365536], [107372260, 107372440]]
Promoter
Chrom Start End Description
chr6 107349392 107349461 CAGE_peak_1_at_C6orf203_5end
chr6 107349528 107349542 CAGE_peak_4_at_C6orf203_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I107027 107027577 107029201 2.05 [{'connected_gene': 'C6orf203', 'score': 558.76}, {'connected_gene': 'RPL3P7', 'score': 5.56}, {'connected_gene': 'PIR49317', 'score': 0.28}]
chr6 GH06I106997 106997192 106999045 0.68 [{'connected_gene': 'C6orf203', 'score': 12.01}, {'connected_gene': 'QRSL1', 'score': 10.05}, {'connected_gene': 'RTN4IP1', 'score': 10.05}, {'connected_gene': 'CD24', 'score': 0.34}]
chr6 GH06I107021 107021857 107022006 0.49 [{'connected_gene': 'C6orf203', 'score': 0.44}, {'connected_gene': 'CD24', 'score': 0.25}]
chr6 GH06I107060 107060819 107062231 0.72 [{'connected_gene': 'C6orf203', 'score': 12.08}, {'connected_gene': 'PIR49317', 'score': 0.77}]
chr6 GH06I107042 107042378 107042926 0.59 [{'connected_gene': 'C6orf203', 'score': 0.39}, {'connected_gene': 'PIR49317', 'score': 0.34}]
chr6 GH06I107064 107064517 107065216 0.89 [{'connected_gene': 'PIR52349', 'score': 550.77}, {'connected_gene': 'PIR49317', 'score': 550.77}, {'connected_gene': 'C6orf203', 'score': 0.28}, {'connected_gene': 'BEND3', 'score': 0.23}]