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
ENST00000296028 [[74852754, 74853091], [74853233, 74853369], [74853672, 74853914]] [[74852988, 74853091], [74853233, 74853369], [74853672, 74853820]]
NM_002704 [[74852155, 74853091], [74853233, 74853369], [74853672, 74853907]] [[74852988, 74853091], [74853233, 74853369], [74853672, 74853820]]
Promoter
Chrom Start End Description
chr4 74853897 74853917 CAGE_peak_1_at_PPBP_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 GH04I074032 74032999 74034453 0.49 [{'connected_gene': 'PPBP', 'score': 11.51}, {'connected_gene': 'MTHFD2L', 'score': 10.71}, {'connected_gene': 'PF4V1', 'score': 10.28}, {'connected_gene': 'CXCL8', 'score': 9.44}, {'connected_gene': 'LOC105377275', 'score': 0.44}, {'connected_gene': 'RN7SL218P', 'score': 0.34}]
chr4 GH04I073843 73843488 73845206 0.83 [{'connected_gene': 'PPBP', 'score': 10.05}, {'connected_gene': 'MTHFD2L', 'score': 9.74}, {'connected_gene': 'CXCL8', 'score': 9.73}, {'connected_gene': 'PF4V1', 'score': 7.31}, {'connected_gene': 'PPBPP1', 'score': 0.77}, {'connected_gene': 'CXCL6', 'score': 0.44}]
chr4 GH04I074023 74023344 74024477 0.46 [{'connected_gene': 'PPBP', 'score': 11.05}, {'connected_gene': 'MTHFD2L', 'score': 10.67}, {'connected_gene': 'RN7SL218P', 'score': 0.39}, {'connected_gene': 'LOC105377275', 'score': 0.39}]
chr4 GH04I073988 73988180 73988239 0.61 [{'connected_gene': 'PPBP', 'score': 550.77}, {'connected_gene': 'GC04M073996', 'score': 0.44}]
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 GH04I073901 73901224 73901373 0.62 [{'connected_gene': 'PF4V1', 'score': 11.04}, {'connected_gene': 'PPBP', 'score': 10.02}, {'connected_gene': 'CXCL1', 'score': 0.29}, {'connected_gene': 'HNRNPA1P55', 'score': 0.28}]
chr4 GH04I073668 73668634 73670636 1.09 [{'connected_gene': 'PF4V1', 'score': 10.89}, {'connected_gene': 'MTHFD2L', 'score': 10.58}, {'connected_gene': 'PPBP', 'score': 4.72}, {'connected_gene': 'LOC105377272', 'score': 0.26}, {'connected_gene': 'RASSF6', 'score': 0.25}]
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 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 GH04I073944 73944400 73944601 0.99 [{'connected_gene': 'CXCL1P1', 'score': 550.77}, {'connected_gene': 'PPBP', 'score': 10.89}, {'connected_gene': 'PF4V1', 'score': 9.97}, {'connected_gene': 'PIR32408', 'score': 0.44}]
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 GH04I073891 73891601 73892373 0.97 [{'connected_gene': 'CXCL3', 'score': 27.88}, {'connected_gene': 'CXCL8', 'score': 16.73}, {'connected_gene': 'PF4V1', 'score': 16.36}, {'connected_gene': 'EREG', 'score': 14.91}, {'connected_gene': 'MTHFD2L', 'score': 12.07}, {'connected_gene': 'PPBP', 'score': 10.26}, {'connected_gene': 'CXCL2', 'score': 8.35}, {'connected_gene': 'CXCL1', 'score': 1.72}, {'connected_gene': 'HNRNPA1P55', 'score': 0.25}]
chr4 GH04I074036 74036937 74040193 1.93 [{'connected_gene': 'CXCL3', 'score': 550.77}, {'connected_gene': 'LOC105377275', 'score': 550.77}, {'connected_gene': 'PPBP', 'score': 10.45}, {'connected_gene': 'CXCL2', 'score': 4.73}, {'connected_gene': 'RN7SL218P', 'score': 0.31}]
chr4 GH04I074016 74016164 74016418 0.58 [{'connected_gene': 'CXCL2', 'score': 30.06}, {'connected_gene': 'CXCL3', 'score': 22.12}, {'connected_gene': 'EREG', 'score': 15.8}, {'connected_gene': 'CXCL8', 'score': 14.36}, {'connected_gene': 'MTHFD2L', 'score': 14.09}, {'connected_gene': 'PPBP', 'score': 11.66}, {'connected_gene': 'RN7SL218P', 'score': 0.77}, {'connected_gene': 'LOC105377275', 'score': 0.34}]