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
ENST00000484063 [[14026692, 14026795], [14042035, 14042109], [14057494, 14057612], [14059273, 14059350], [14068499, 14068652], [14075855, 14075958]] [[14042100, 14042109], [14057494, 14057612], [14059273, 14059350], [14068499, 14068652], [14075855, 14075958]]
ENST00000376048 [[14026734, 14026795], [14042035, 14042109], [14057494, 14057612], [14059273, 14059377], [14068499, 14068652], [14075855, 14075982], [14142921, 14143065], [14149653, 14151560]] [[14042100, 14042109], [14057494, 14057612], [14059273, 14059377], [14068499, 14068652], [14075855, 14075982], [14142921, 14143065], [14149653, 14149679]]
ENST00000311066 [[14031349, 14032140], [14042035, 14042109], [14057494, 14057612], [14059273, 14059377], [14068499, 14068652], [14075855, 14075982], [14099572, 14099683], [14104912, 14109326], [14113009, 14114554]] [[14042100, 14042109], [14057494, 14057612], [14059273, 14059377], [14068499, 14068652], [14075855, 14075982], [14099572, 14099683], [14104912, 14109326], [14113009, 14113022]]
ENST00000235372 [[14031349, 14032140], [14042035, 14042109], [14057494, 14057612], [14059273, 14059377], [14068499, 14068652], [14075855, 14075982], [14099572, 14099683], [14104912, 14109326], [14142921, 14143065], [14149653, 14151574]] [[14042100, 14042109], [14057494, 14057612], [14059273, 14059377], [14068499, 14068652], [14075855, 14075982], [14099572, 14099683], [14104912, 14109326], [14142921, 14143042]]
ENST00000491134 [[14057512, 14057612], [14068499, 14068652], [14075855, 14075982], [14095612, 14095668], [14099572, 14099683], [14113009, 14113562]] [[14057512, 14057612], [14068499, 14068534]]
ENST00000502727 [[14065244, 14065435], [14068499, 14068652], [14075855, 14075982], [14099572, 14099683]] None
ENST00000502724 [[14065279, 14065435], [14068499, 14068652], [14075855, 14075982], [14095612, 14095668], [14099572, 14099621]] None
ENST00000413440 [[14075897, 14075982], [14099572, 14099683], [14104912, 14109326], [14113009, 14114574]] [[14099664, 14099683], [14104912, 14109326], [14113009, 14113022]]
ENST00000343137 [[14075909, 14075982], [14095612, 14095668], [14099572, 14099683], [14104912, 14109326], [14113009, 14114152]] [[14099664, 14099683], [14104912, 14109326], [14113009, 14113022]]
ENST00000491815 [[14075918, 14075982], [14099572, 14100166]] None
ENST00000503842 [[14075929, 14075982], [14095612, 14095668], [14099572, 14099683], [14142921, 14143065], [14149653, 14149994]] [[14099664, 14099683], [14142921, 14143065], [14149653, 14149679]]
ENST00000407521 [[14075930, 14075982], [14095533, 14095668], [14099572, 14099683], [14104912, 14105127]] [[14099664, 14099683], [14104912, 14105127]]
ENST00000505823 [[14075930, 14075982], [14099572, 14099683], [14142921, 14143065], [14149653, 14149914]] [[14099664, 14099683], [14142921, 14143065], [14149653, 14149679]]
ENST00000487453 [[14098220, 14098709], [14099572, 14099683], [14104912, 14104958]] [[14099664, 14099683], [14104912, 14104958]]
NM_001135610 [[14026734, 14026795], [14042035, 14042109], [14057494, 14057612], [14059273, 14059377], [14068499, 14068652], [14075855, 14075982], [14142921, 14143065], [14149653, 14151574]] [[14042100, 14042109], [14057494, 14057612], [14059273, 14059377], [14068499, 14068652], [14075855, 14075982], [14142921, 14143065], [14149653, 14149679]]
NM_015866 [[14031349, 14032140], [14042035, 14042109], [14057494, 14057612], [14059273, 14059377], [14068499, 14068652], [14075855, 14075982], [14099572, 14099683], [14104912, 14109326], [14113009, 14114574]] [[14042100, 14042109], [14057494, 14057612], [14059273, 14059377], [14068499, 14068652], [14075855, 14075982], [14099572, 14099683], [14104912, 14109326], [14113009, 14113022]]
NM_012231 [[14031349, 14032140], [14042035, 14042109], [14057494, 14057612], [14059273, 14059377], [14068499, 14068652], [14075855, 14075982], [14099572, 14099683], [14104912, 14109326], [14142921, 14143065], [14149653, 14151574]] [[14042100, 14042109], [14057494, 14057612], [14059273, 14059377], [14068499, 14068652], [14075855, 14075982], [14099572, 14099683], [14104912, 14109326], [14142921, 14143042]]
NM_001007257 [[14075875, 14075982], [14099572, 14099683], [14104912, 14109326], [14113009, 14114574]] [[14099664, 14099683], [14104912, 14109326], [14113009, 14113022]]
Promoter
Chrom Start End Description
chr1 14026671 14026705 CAGE_peak_2_at_PRDM2_5end
chr1 14026722 14026733 CAGE_peak_5_at_PRDM2_5end
chr1 14057463 14057496 CAGE_peak_4_at_PRDM2_5end
chr1 14075865 14075896 CAGE_peak_3_at_PRDM2_5end
chr1 14075903 14075940 CAGE_peak_1_at_PRDM2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I013757 13757818 13760659 1.05 [{'connected_gene': 'PRDM2', 'score': 11.78}, {'connected_gene': 'ENSG00000253085', 'score': 11.77}, {'connected_gene': 'GC01M013810', 'score': 0.22}]
chr1 GH01I013727 13727782 13734580 1.45 [{'connected_gene': 'PRDM2', 'score': 28.79}, {'connected_gene': 'ENSG00000253085', 'score': 12.48}, {'connected_gene': 'GC01M013810', 'score': 0.17}]
chr1 GH01I013792 13792006 13793031 0.2 [{'connected_gene': 'PRDM2', 'score': 10.88}, {'connected_gene': 'ENSG00000253085', 'score': 10.87}, {'connected_gene': 'GC01M013810', 'score': 0.34}]
chr1 GH01I013712 13712801 13713600 0.58 [{'connected_gene': 'PRDM2', 'score': 0.39}, {'connected_gene': 'GC01M013810', 'score': 0.15}]
chr1 GH01I013754 13754567 13754976 0.58 [{'connected_gene': 'PRDM2', 'score': 0.23}, {'connected_gene': 'GC01M013810', 'score': 0.21}]
chr1 GH01I013699 13699221 13705309 2.44 [{'connected_gene': 'PRDM2', 'score': 576.07}, {'connected_gene': 'GC01M013810', 'score': 0.14}]
chr1 GH01I013707 13707726 13710349 0.74 [{'connected_gene': 'PRDM2', 'score': 0.44}, {'connected_gene': 'GC01M013810', 'score': 0.14}]
chr1 GH01I013747 13747990 13753071 2.23 [{'connected_gene': 'PRDM2', 'score': 550.23}, {'connected_gene': 'GC01M013810', 'score': 0.2}]
chr1 GH01I013722 13722783 13724600 0.63 [{'connected_gene': 'PRDM2', 'score': 0.34}, {'connected_gene': 'GC01M013810', 'score': 0.16}]
chr1 GH01I013735 13735018 13735768 0.58 [{'connected_gene': 'PRDM2', 'score': 0.28}, {'connected_gene': 'GC01M013810', 'score': 0.18}]
chr1 GH01I013590 13590563 13590818 0.48 [{'connected_gene': 'PDPN', 'score': 2.98}, {'connected_gene': 'PRDM2', 'score': 2.51}, {'connected_gene': 'RNA5SP41', 'score': 0.29}]
chr1 GH01I013604 13604814 13605800 1.21 [{'connected_gene': 'PDPN', 'score': 14.09}, {'connected_gene': 'LRRC38', 'score': 10.32}, {'connected_gene': 'PRDM2', 'score': 2.82}, {'connected_gene': 'RNA5SP41', 'score': 0.37}]
chr1 GH01I013623 13623338 13623658 0.22 [{'connected_gene': 'RNA5SP41', 'score': 550.77}, {'connected_gene': 'PDPN', 'score': 3.8}, {'connected_gene': 'PRDM2', 'score': 2.94}, {'connected_gene': 'GC01P013657', 'score': 0.29}]
chr1 GH01I013724 13724762 13726200 0.99 [{'connected_gene': 'ENSG00000253085', 'score': 12.5}, {'connected_gene': 'PRDM2', 'score': 12.5}, {'connected_gene': 'GC01M013810', 'score': 0.16}]
chr1 GH01I013766 13766154 13767979 0.86 [{'connected_gene': 'GC01M013810', 'score': 0.25}, {'connected_gene': 'PRDM2', 'score': 0.2}]
chr1 GH01I013765 13765066 13765215 0.66 [{'connected_gene': 'GC01M013810', 'score': 0.23}, {'connected_gene': 'PRDM2', 'score': 0.21}]
chr1 GH01I013764 13764116 13764801 0.83 [{'connected_gene': 'GC01M013810', 'score': 0.23}, {'connected_gene': 'PRDM2', 'score': 0.21}]
chr1 GH01I013774 13774851 13774875 0.4 [{'connected_gene': 'GC01M013810', 'score': 0.26}, {'connected_gene': 'PRDM2', 'score': 0.19}]
chr1 GH01I013798 13798466 13799323 0.79 [{'connected_gene': 'GC01M013810', 'score': 0.37}, {'connected_gene': 'PRDM2', 'score': 0.15}]
chr1 GH01I013775 13774905 13776240 0.4 [{'connected_gene': 'GC01M013810', 'score': 0.26}, {'connected_gene': 'PRDM2', 'score': 0.18}]
chr1 GH01I013780 13780448 13783599 0.92 [{'connected_gene': 'GC01M013810', 'score': 0.29}, {'connected_gene': 'PRDM2', 'score': 0.18}]
chr1 GH01I013800 13800920 13802256 0.56 [{'connected_gene': 'GC01M013810', 'score': 0.39}, {'connected_gene': 'PRDM2', 'score': 0.15}]
chr1 GH01I013768 13768404 13772684 0.65 [{'connected_gene': 'GC01M013810', 'score': 0.25}, {'connected_gene': 'PRDM2', 'score': 0.19}]
chr1 GH01I013762 13762801 13763000 0.58 [{'connected_gene': 'GC01M013810', 'score': 0.23}, {'connected_gene': 'PRDM2', 'score': 0.21}]