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
ENST00000378190 [[4714791, 4715514], [4771959, 4772759], [4829912, 4830000], [4832339, 4832585], [4834486, 4834618], [4837460, 4837854]] [[4715485, 4715514], [4771959, 4772759], [4829912, 4830000], [4832339, 4832585], [4834486, 4834559]]
ENST00000378191 [[4715104, 4715514], [4771959, 4772759], [4829912, 4830000], [4832339, 4832585], [4834486, 4834618], [4842604, 4852594]] [[4715485, 4715514], [4771959, 4772759], [4829912, 4830000], [4832339, 4832585], [4834486, 4834559]]
ENST00000466761 [[4771214, 4771246], [4771959, 4772225]] None
NM_001042478 [[4715104, 4715514], [4771959, 4772759], [4829912, 4830000], [4832339, 4832585], [4834486, 4834618], [4837460, 4837854]] [[4715485, 4715514], [4771959, 4772759], [4829912, 4830000], [4832339, 4832585], [4834486, 4834559]]
NM_018836 [[4715104, 4715514], [4771959, 4772759], [4829912, 4830000], [4832339, 4832585], [4834486, 4834618], [4842604, 4843851]] [[4715485, 4715514], [4771959, 4772759], [4829912, 4830000], [4832339, 4832585], [4834486, 4834559]]
Promoter
Chrom Start End Description
chr1 4714656 4714675 CAGE_peak_1_at_AJAP1_5end
chr1 4714687 4714694 CAGE_peak_3_at_AJAP1_5end
chr1 4714828 4714861 CAGE_peak_2_at_AJAP1_5end
chr1 4714881 4714892 CAGE_peak_4_at_AJAP1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I004677 4677290 4688242 0.56 [{'connected_gene': 'CEP104', 'score': 10.91}, {'connected_gene': 'TP73-AS1', 'score': 9.96}, {'connected_gene': 'GC01M004696', 'score': 0.34}, {'connected_gene': 'GC01P004654', 'score': 0.31}, {'connected_gene': 'AJAP1', 'score': 0.31}]
chr1 GH01I004674 4674547 4675266 0.31 [{'connected_gene': 'AJAP1', 'score': 12.94}, {'connected_gene': 'GC01P004654', 'score': 0.34}, {'connected_gene': 'GC01M004696', 'score': 0.31}]
chr1 GH01I004735 4735801 4737000 0.31 [{'connected_gene': 'AJAP1', 'score': 4.81}, {'connected_gene': 'GC01M004696', 'score': 0.29}, {'connected_gene': 'PIR48322', 'score': 0.23}]
chr1 GH01I004754 4754792 4756456 0.38 [{'connected_gene': 'AJAP1', 'score': 6.47}, {'connected_gene': 'PIR48322', 'score': 0.29}, {'connected_gene': 'GC01M004696', 'score': 0.23}]
chr1 GH01I004676 4676210 4676473 0.42 [{'connected_gene': 'AJAP1', 'score': 12.94}, {'connected_gene': 'GC01P004654', 'score': 0.34}, {'connected_gene': 'GC01M004696', 'score': 0.31}]
chr1 GH01I004675 4675601 4675750 0.4 [{'connected_gene': 'AJAP1', 'score': 12.94}, {'connected_gene': 'GC01P004654', 'score': 0.34}, {'connected_gene': 'GC01M004696', 'score': 0.31}]
chr1 GH01I004668 4668383 4670223 0.43 [{'connected_gene': 'AJAP1', 'score': 2.04}, {'connected_gene': 'GC01P004654', 'score': 0.39}, {'connected_gene': 'GC01M004696', 'score': 0.29}]
chr1 GH01I004650 4650034 4651504 0.46 [{'connected_gene': 'AJAP1', 'score': 0.77}, {'connected_gene': 'GC01M004619', 'score': 0.31}]
chr1 GH01I004696 4696393 4697108 0.31 [{'connected_gene': 'GC01M004696', 'score': 0.44}, {'connected_gene': 'GC01P004654', 'score': 0.26}, {'connected_gene': 'AJAP1', 'score': 0.26}]
chr1 GH01I004702 4702333 4704065 0.66 [{'connected_gene': 'GC01M004696', 'score': 550.77}, {'connected_gene': 'GC01P004654', 'score': 0.25}, {'connected_gene': 'AJAP1', 'score': 0.25}]
chr1 GH01I004673 4673489 4674528 0.31 [{'connected_gene': 'GC01P004654', 'score': 0.37}, {'connected_gene': 'AJAP1', 'score': 0.37}, {'connected_gene': 'GC01M004696', 'score': 0.29}]
chr1 GH01I004708 4708187 4710627 0.43 [{'connected_gene': 'GC01M004696', 'score': 0.44}, {'connected_gene': 'AJAP1', 'score': 0.23}, {'connected_gene': 'PIR48322', 'score': 0.18}]
chr1 GH01I004697 4697733 4701634 0.46 [{'connected_gene': 'GC01M004696', 'score': 0.77}, {'connected_gene': 'GC01P004654', 'score': 0.26}, {'connected_gene': 'AJAP1', 'score': 0.26}]
chr1 GH01I004712 4712392 4715142 0.31 [{'connected_gene': 'GC01M004696', 'score': 0.44}, {'connected_gene': 'AJAP1', 'score': 0.22}, {'connected_gene': 'PIR48322', 'score': 0.19}]
chr1 GH01I004652 4652492 4657021 1.6 [{'connected_gene': 'GC01P004654', 'score': 550.77}, {'connected_gene': 'AJAP1', 'score': 550.77}]
chr1 GH01I004711 4711241 4711290 0.72 [{'connected_gene': 'GC01M004696', 'score': 0.44}, {'connected_gene': 'AJAP1', 'score': 0.22}, {'connected_gene': 'PIR48322', 'score': 0.18}]
chr1 GH01I004658 4658183 4658990 0.4 [{'connected_gene': 'GC01P004654', 'score': 0.77}, {'connected_gene': 'AJAP1', 'score': 0.77}, {'connected_gene': 'GC01M004696', 'score': 0.25}]
chr1 GH01I004661 4661808 4666319 0.43 [{'connected_gene': 'GC01P004654', 'score': 0.44}, {'connected_gene': 'AJAP1', 'score': 0.44}, {'connected_gene': 'GC01M004696', 'score': 0.26}]
chr1 GH01I004688 4688968 4691822 0.31 [{'connected_gene': 'GC01M004696', 'score': 0.39}, {'connected_gene': 'GC01P004654', 'score': 0.28}, {'connected_gene': 'AJAP1', 'score': 0.28}]
chr1 GH01I004006 4006716 4008311 0.88 [{'connected_gene': 'PIR57428', 'score': 550.77}, {'connected_gene': 'WRAP73', 'score': 21.21}, {'connected_gene': 'C1orf174', 'score': 19.08}, {'connected_gene': 'AJAP1', 'score': 5.75}, {'connected_gene': 'LOC105376673', 'score': 0.29}]