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
ENST00000284523 [[228194751, 228194900], [228210367, 228210609], [228238356, 228238622], [228246686, 228248961]] [[228194829, 228194900], [228210367, 228210609], [228238356, 228238622], [228246686, 228247166]]
ENST00000366753 [[228194782, 228194900], [228210367, 228210609], [228238356, 228238622], [228246686, 228247162], [228247902, 228248168]] [[228194829, 228194900], [228210367, 228210609], [228238356, 228238622], [228246686, 228247162], [228247902, 228248005]]
NM_033131 [[228194722, 228194900], [228210367, 228210609], [228238356, 228238622], [228246686, 228248972]] [[228194829, 228194900], [228210367, 228210609], [228238356, 228238622], [228246686, 228247166]]
Promoter
Chrom Start End Description
chr1 228194693 228194705 CAGE_peak_2_at_WNT3A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I227761 227761522 227764970 1.35 [{'connected_gene': 'WNT3A', 'score': 10.02}, {'connected_gene': 'SNAP47', 'score': 6.19}, {'connected_gene': 'SNAP47-AS1', 'score': 0.37}, {'connected_gene': 'LOC105373289', 'score': 0.34}]
chr1 GH01I227758 227758540 227760855 0.77 [{'connected_gene': 'WNT3A', 'score': 9.8}, {'connected_gene': 'SNAP47', 'score': 6.54}, {'connected_gene': 'SNAP47-AS1', 'score': 0.39}, {'connected_gene': 'LOC105373289', 'score': 0.31}]
chr1 GH01I228006 228006949 228007008 0.82 [{'connected_gene': 'WNT3A', 'score': 550.77}, {'connected_gene': 'SEPT14P17', 'score': 0.31}]
chr1 GH01I227909 227909806 227911606 0.83 [{'connected_gene': 'WNT3A', 'score': 16.55}, {'connected_gene': 'MIR5008', 'score': 0.29}, {'connected_gene': 'PRSS38', 'score': 0.15}]
chr1 GH01I228013 228013400 228013549 0.31 [{'connected_gene': 'WNT3A', 'score': 0.44}, {'connected_gene': 'GC01P228076', 'score': 0.21}]
chr1 GH01I228059 228059095 228061281 0.95 [{'connected_gene': 'OBSCN', 'score': 18.38}, {'connected_gene': 'ARF1', 'score': 12.76}, {'connected_gene': 'WNT3A', 'score': 11.82}, {'connected_gene': 'OBSCN-AS1', 'score': 7.99}, {'connected_gene': 'GC01P228076', 'score': 0.37}]
chr1 GH01I227942 227942741 227948692 2.17 [{'connected_gene': 'WNT9A', 'score': 550.77}, {'connected_gene': 'OBSCN-AS1', 'score': 12.89}, {'connected_gene': 'WNT3A', 'score': 10.94}, {'connected_gene': 'OBSCN', 'score': 9.02}, {'connected_gene': 'IBA57', 'score': 7.69}, {'connected_gene': 'ENSG00000269934', 'score': 6.71}, {'connected_gene': 'MRPL55', 'score': 4.16}, {'connected_gene': 'MIR5008', 'score': 0.77}]
chr1 GH01I228014 228014152 228015524 0.56 [{'connected_gene': 'OBSCN-AS1', 'score': 6.38}, {'connected_gene': 'OBSCN', 'score': 5.9}, {'connected_gene': 'ENSG00000269934', 'score': 4.36}, {'connected_gene': 'WNT3A', 'score': 0.44}, {'connected_gene': 'GC01P228076', 'score': 0.21}]
chr1 GH01I228781 228781194 228784931 1.7 [{'connected_gene': 'NUP133', 'score': 144.13}, {'connected_gene': 'CICP26', 'score': 125.89}, {'connected_gene': 'C1orf35', 'score': 96.4}, {'connected_gene': 'ENSG00000269890', 'score': 51.26}, {'connected_gene': 'HMGN2P19', 'score': 32.32}, {'connected_gene': 'ABCB10', 'score': 28.22}, {'connected_gene': 'HIST3H3', 'score': 27.97}, {'connected_gene': 'TAF5L', 'score': 27.68}, {'connected_gene': 'URB2', 'score': 16.08}, {'connected_gene': 'LOC105373159', 'score': 11.9}, {'connected_gene': 'MRPL55', 'score': 10.4}, {'connected_gene': 'TMEM78', 'score': 9.91}, {'connected_gene': 'RHOU', 'score': 6.46}, {'connected_gene': 'WNT3A', 'score': 5.45}, {'connected_gene': 'LOC100421842', 'score': 0.44}, {'connected_gene': 'GC01M228858', 'score': 0.37}]
chr1 GH01I228445 228445521 228446654 1.17 [{'connected_gene': 'TRIM17', 'score': 16.97}, {'connected_gene': 'OBSCN', 'score': 16.3}, {'connected_gene': 'TRIM11', 'score': 13.15}, {'connected_gene': 'ENSG00000231563', 'score': 11.92}, {'connected_gene': 'OBSCN-AS1', 'score': 10.39}, {'connected_gene': 'WNT3A', 'score': 9.99}, {'connected_gene': 'GJC2', 'score': 4.48}, {'connected_gene': 'HIST3H2A', 'score': 2.15}, {'connected_gene': 'RPL23AP15', 'score': 0.77}, {'connected_gene': 'HIST3H3', 'score': 0.34}]
chr1 GH01I228081 228081203 228091907 2.51 [{'connected_gene': 'ARF1', 'score': 553.38}, {'connected_gene': 'CICP26', 'score': 64.2}, {'connected_gene': 'ENSG00000269890', 'score': 42.31}, {'connected_gene': 'ZNF678', 'score': 32.31}, {'connected_gene': 'C1orf35', 'score': 28.77}, {'connected_gene': 'OBSCN', 'score': 27.84}, {'connected_gene': 'CDC42BPA', 'score': 19.74}, {'connected_gene': 'WNT3A', 'score': 10.58}, {'connected_gene': 'ENSG00000269934', 'score': 8.99}, {'connected_gene': 'OBSCN-AS1', 'score': 7.29}, {'connected_gene': 'MIR3620', 'score': 0.39}]
chr1 GH01I228403 228403895 228408562 2.03 [{'connected_gene': 'ENSG00000231563', 'score': 550.77}, {'connected_gene': 'TRIM11', 'score': 550.77}, {'connected_gene': 'GC01M228396', 'score': 550.77}, {'connected_gene': 'CICP26', 'score': 18.08}, {'connected_gene': 'ZNF678', 'score': 12.48}, {'connected_gene': 'HIST3H3', 'score': 10.87}, {'connected_gene': 'C1orf35', 'score': 10.54}, {'connected_gene': 'MRPL55', 'score': 10.43}, {'connected_gene': 'ENSG00000269890', 'score': 10.42}, {'connected_gene': 'WNT3A', 'score': 4.47}, {'connected_gene': 'PIR32292', 'score': 0.77}, {'connected_gene': 'GC01M228403', 'score': 0.77}, {'connected_gene': 'TRIM17', 'score': 0.39}]