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
ENST00000509101 [[74735109, 74735287], [74735385, 74735509], [74735622, 74735894]] None
ENST00000395761 [[74735120, 74735287], [74735385, 74735509], [74735622, 74735706], [74736237, 74736959]] [[74735187, 74735287], [74735385, 74735509], [74735622, 74735706], [74736237, 74736253]]
NM_001511 [[74735108, 74735287], [74735385, 74735509], [74735622, 74735706], [74736237, 74737019]] [[74735187, 74735287], [74735385, 74735509], [74735622, 74735706], [74736237, 74736253]]
NR_046035 [[74735108, 74735287], [74735362, 74735509], [74735622, 74735706], [74736237, 74737019]] None
Promoter
Chrom Start End Description
chr4 74734679 74734692 CAGE_peak_4_at_CXCL1_5end
chr4 74734784 74734794 CAGE_peak_6_at_CXCL1_5end
chr4 74735102 74735117 CAGE_peak_1_at_CXCL1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
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 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 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 GH04I073679 73679713 73680226 0.56 [{'connected_gene': 'PF4V1', 'score': 11.27}, {'connected_gene': 'CXCL8', 'score': 10.85}, {'connected_gene': 'LOC105377272', 'score': 4.44}, {'connected_gene': 'CXCL6', 'score': 1.59}, {'connected_gene': 'CXCL1', 'score': 1.53}, {'connected_gene': 'RASSF6', 'score': 0.22}]
chr4 GH04I073897 73897584 73897733 0.2 [{'connected_gene': 'PF4V1', 'score': 10.92}, {'connected_gene': 'CXCL1', 'score': 0.31}, {'connected_gene': 'HNRNPA1P55', 'score': 0.26}]
chr4 GH04I073853 73853166 73854000 1.15 [{'connected_gene': 'PF4V1', 'score': 578.03}, {'connected_gene': 'CXCL1', 'score': 0.37}]
chr4 GH04I073856 73856644 73856793 0.52 [{'connected_gene': 'PF4V1', 'score': 0.77}, {'connected_gene': 'CXCL1', 'score': 0.39}]
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 GH04I074107 74107742 74118086 1.58 [{'connected_gene': 'MTHFD2L', 'score': 554.4}, {'connected_gene': 'CXCL2', 'score': 45.82}, {'connected_gene': 'EREG', 'score': 38.58}, {'connected_gene': 'CXCL8', 'score': 35.67}, {'connected_gene': 'CXCL3', 'score': 30.88}, {'connected_gene': 'CXCL1', 'score': 1.84}, {'connected_gene': 'AREG', 'score': 1.28}, {'connected_gene': 'LOC105377277', 'score': 0.31}]
chr4 GH04I073730 73730820 73735999 1.62 [{'connected_gene': 'CXCL8', 'score': 55.23}, {'connected_gene': 'CXCL2', 'score': 48.41}, {'connected_gene': 'CXCL3', 'score': 36.41}, {'connected_gene': 'PF4V1', 'score': 10.52}, {'connected_gene': 'MTHFD2L', 'score': 3.34}, {'connected_gene': 'ANKRD17', 'score': 2.44}, {'connected_gene': 'CXCL1', 'score': 1.82}, {'connected_gene': 'LOC105377272', 'score': 0.34}]
chr4 GH04I073702 73702794 73706602 1.72 [{'connected_gene': 'CXCL8', 'score': 66.38}, {'connected_gene': 'CXCL2', 'score': 34.96}, {'connected_gene': 'CXCL3', 'score': 32.66}, {'connected_gene': 'ANKRD17', 'score': 13.37}, {'connected_gene': 'HMGA1P2', 'score': 12.43}, {'connected_gene': 'PF4V1', 'score': 10.84}, {'connected_gene': 'LOC105377272', 'score': 5.51}, {'connected_gene': 'CXCL5', 'score': 4.32}, {'connected_gene': 'MTHFD2L', 'score': 2.95}, {'connected_gene': 'CXCL1', 'score': 2.02}, {'connected_gene': 'RASSF6', 'score': 0.18}]
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 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 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}]
chr4 GH04I073859 73859884 73860033 0.38 [{'connected_gene': 'CXCL1', 'score': 0.44}, {'connected_gene': 'PF4V1', 'score': 0.44}]