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
ENST00000296029 [[74846793, 74847008], [74847133, 74847260], [74847579, 74847841]] [[74846920, 74847008], [74847133, 74847260], [74847579, 74847670]]
NM_002619 [[74846541, 74847008], [74847133, 74847260], [74847579, 74847841]] [[74846920, 74847008], [74847133, 74847260], [74847579, 74847670]]
Promoter
Chrom Start End Description
chr4 74847674 74847678 CAGE_peak_6_at_PF4_5end
chr4 74847682 74847730 CAGE_peak_2_at_PF4_5end
chr4 74847731 74847751 CAGE_peak_1_at_PF4_5end
chr4 74847800 74847828 CAGE_peak_3_at_PF4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I073984 73984439 73986352 0.63 [{'connected_gene': 'CXCL5', 'score': 11.07}, {'connected_gene': 'MTHFD2L', 'score': 10.21}, {'connected_gene': 'PF4V1', 'score': 9.11}, {'connected_gene': 'PPBP', 'score': 0.77}, {'connected_gene': 'PF4', 'score': 0.77}]
chr4 GH04I073965 73965064 73965201 0.59 [{'connected_gene': 'PPBP', 'score': 12.28}, {'connected_gene': 'PF4V1', 'score': 10.85}, {'connected_gene': 'MTHFD2L', 'score': 10.06}, {'connected_gene': 'PF4', 'score': 0.37}, {'connected_gene': 'PIR32408', 'score': 0.37}]
chr4 GH04I073923 73923201 73923401 0.52 [{'connected_gene': 'PPBP', 'score': 10.86}, {'connected_gene': 'MTHFD2L', 'score': 10.25}, {'connected_gene': 'PF4V1', 'score': 10.06}, {'connected_gene': 'PF4', 'score': 9.43}, {'connected_gene': 'HNRNPA1P55', 'score': 0.37}, {'connected_gene': 'CXCL1', 'score': 0.23}]
chr4 GH04I073902 73902160 73902633 0.43 [{'connected_gene': 'PF4V1', 'score': 10.44}, {'connected_gene': 'PPBP', 'score': 10.42}, {'connected_gene': 'MTHFD2L', 'score': 10.26}, {'connected_gene': 'PF4', 'score': 4.9}, {'connected_gene': 'CXCL1', 'score': 0.29}, {'connected_gene': 'HNRNPA1P55', 'score': 0.28}]
chr4 GH04I073872 73872001 73873520 1.01 [{'connected_gene': 'PF4V1', 'score': 8.08}, {'connected_gene': 'CXCL8', 'score': 7.88}, {'connected_gene': 'PF4', 'score': 7.02}, {'connected_gene': 'PPBP', 'score': 3.46}, {'connected_gene': 'CXCL3', 'score': 2.71}, {'connected_gene': 'EREG', 'score': 2.45}, {'connected_gene': 'CXCL2', 'score': 2.28}, {'connected_gene': 'CXCL1', 'score': 0.77}, {'connected_gene': 'HNRNPA1P55', 'score': 0.2}]
chr4 GH04I073978 73978504 73979658 0.59 [{'connected_gene': 'PF4', 'score': 12.07}, {'connected_gene': 'CXCL5', 'score': 6.59}, {'connected_gene': 'PF4V1', 'score': 6.52}, {'connected_gene': 'PIR32408', 'score': 0.31}]
chr4 GH04I073874 73874484 73874756 0.41 [{'connected_gene': 'PF4', 'score': 8.76}, {'connected_gene': 'CXCL8', 'score': 6.74}, {'connected_gene': 'PPBP', 'score': 5.03}, {'connected_gene': 'PF4V1', 'score': 3.84}, {'connected_gene': 'CXCL3', 'score': 2.92}, {'connected_gene': 'CXCL2', 'score': 2.56}, {'connected_gene': 'EREG', 'score': 2.45}, {'connected_gene': 'CXCL1', 'score': 0.44}, {'connected_gene': 'HNRNPA1P55', 'score': 0.2}]
chr4 GH04I074004 74004207 74007572 1 [{'connected_gene': 'PF4', 'score': 7.4}, {'connected_gene': 'RN7SL218P', 'score': 0.44}, {'connected_gene': 'CXCL5', 'score': 0.44}]
chr4 GH04I073981 73981801 73982201 1.46 [{'connected_gene': 'PF4', 'score': 550.77}, {'connected_gene': 'PIR32408', 'score': 0.29}]
chr4 GH04I073762 73762581 73762748 0.49 [{'connected_gene': 'CXCL8', 'score': 14.37}, {'connected_gene': 'PF4V1', 'score': 11.67}, {'connected_gene': 'CXCL6', 'score': 4.57}, {'connected_gene': 'PPBP', 'score': 1.72}, {'connected_gene': 'PF4', 'score': 1.3}, {'connected_gene': 'GC04P073743', 'score': 0.37}, {'connected_gene': 'ENSG00000249051', 'score': 0.37}]
chr4 GH04I073899 73899380 73899773 0.3 [{'connected_gene': 'CXCL3', 'score': 11.4}, {'connected_gene': 'PF4V1', 'score': 10.9}, {'connected_gene': 'CXCL8', 'score': 9.16}, {'connected_gene': 'EREG', 'score': 7.81}, {'connected_gene': 'PF4', 'score': 6.71}, {'connected_gene': 'CXCL2', 'score': 6.31}, {'connected_gene': 'CXCL1', 'score': 4.65}, {'connected_gene': 'CXCL6', 'score': 3.03}, {'connected_gene': 'HNRNPA1P55', 'score': 0.26}]
chr4 GH04I073860 73859604 73859833 0.38 [{'connected_gene': 'CXCL3', 'score': 10.4}, {'connected_gene': 'MTHFD2L', 'score': 9.74}, {'connected_gene': 'CXCL8', 'score': 9.37}, {'connected_gene': 'PF4', 'score': 7.58}, {'connected_gene': 'CXCL1', 'score': 0.44}, {'connected_gene': 'PF4V1', 'score': 0.44}]
chr4 GH04I073915 73915852 73918740 1.07 [{'connected_gene': 'CXCL3', 'score': 17.96}, {'connected_gene': 'CXCL8', 'score': 15.07}, {'connected_gene': 'EREG', 'score': 14.97}, {'connected_gene': 'PF4', 'score': 9.23}, {'connected_gene': 'CXCL2', 'score': 8.39}, {'connected_gene': 'CXCL1', 'score': 2.43}, {'connected_gene': 'MTHFD2L', 'score': 1.65}, {'connected_gene': 'HNRNPA1P55', 'score': 0.34}]
chr4 GH04I073867 73867884 73871073 1.81 [{'connected_gene': 'CXCL1', 'score': 550.77}, {'connected_gene': 'PF4V1', 'score': 11.27}, {'connected_gene': 'PF4', 'score': 4.75}, {'connected_gene': 'HNRNPA1P55', 'score': 0.19}]