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
ENST00000395412 [[122847792, 122848264], [122881110, 122881535], [122888800, 122888841], [122893188, 122893258], [122909086, 122909235], [122911422, 122911657], [122923761, 122923847], [122924120, 122924205], [122926106, 122926252], [122927012, 122927108], [122930732, 122930828], [122940417, 122940524], [122941032, 122941056], [122950035, 122952465]] [[122881357, 122881535], [122888800, 122888841], [122893188, 122893258], [122909086, 122909235], [122911422, 122911657], [122923761, 122923847], [122924120, 122924205], [122926106, 122926252], [122927012, 122927108], [122930732, 122930828], [122940417, 122940524], [122941032, 122941056], [122950035, 122950090]]
ENST00000345990 [[122847792, 122848264], [122881110, 122881535], [122888800, 122888841], [122893188, 122893258], [122909086, 122909235], [122911422, 122911657], [122923761, 122923847], [122924120, 122924205], [122926106, 122926252], [122927012, 122927108], [122940417, 122940524], [122941032, 122941056], [122950035, 122952465]] [[122881357, 122881535], [122888800, 122888841], [122893188, 122893258], [122909086, 122909235], [122911422, 122911657], [122923761, 122923847], [122924120, 122924205], [122926106, 122926252], [122927012, 122927108], [122940417, 122940524], [122941032, 122941056], [122950035, 122950090]]
ENST00000395411 [[122847792, 122848264], [122881110, 122881535], [122888800, 122888841], [122893188, 122893258], [122909086, 122909235], [122911422, 122911657], [122923761, 122923847], [122924120, 122924205], [122926106, 122926252], [122927012, 122927108], [122930732, 122930828], [122940417, 122940524], [122950035, 122952465]] [[122881357, 122881535], [122888800, 122888841], [122893188, 122893258], [122909086, 122909235], [122911422, 122911657], [122923761, 122923847], [122924120, 122924205], [122926106, 122926252], [122927012, 122927108], [122930732, 122930828], [122940417, 122940524], [122950035, 122950090]]
ENST00000511130 [[122847953, 122848264], [122909086, 122909235], [122911422, 122911657], [122923761, 122923847], [122924120, 122924205], [122926103, 122926252], [122927012, 122927108], [122940417, 122940524], [122941032, 122941056], [122950035, 122950149]] [[122909136, 122909235], [122911422, 122911657], [122923761, 122923847], [122924120, 122924205], [122926103, 122926252], [122927012, 122927108], [122940417, 122940524], [122941032, 122941056], [122950035, 122950090]]
ENST00000512718 [[122847953, 122848264], [122888800, 122888841], [122893188, 122893258], [122909086, 122909235], [122911422, 122911657], [122923761, 122923847], [122924120, 122924205], [122926106, 122926252], [122927012, 122927108], [122940417, 122940524], [122941032, 122941056], [122950035, 122950254]] [[122893194, 122893258], [122909086, 122909235], [122911422, 122911657], [122923761, 122923847], [122924120, 122924205], [122926106, 122926252], [122927012, 122927108], [122940417, 122940524], [122941032, 122941056], [122950035, 122950090]]
ENST00000521364 [[122881108, 122881535], [122888800, 122888841], [122893188, 122893258], [122909086, 122909235], [122911422, 122911657], [122923761, 122923847], [122924120, 122924205], [122926106, 122926252], [122927012, 122927108], [122940417, 122940524], [122941032, 122941056], [122950035, 122951149]] [[122881357, 122881535], [122888800, 122888841], [122893188, 122893258], [122909086, 122909235], [122911422, 122911657], [122923761, 122923847], [122924120, 122924205], [122926106, 122926252], [122927012, 122927108], [122940417, 122940524], [122941032, 122941056], [122950035, 122950090]]
ENST00000510842 [[122881110, 122881535], [122888800, 122888841], [122893188, 122893258], [122909086, 122909235], [122911422, 122911657], [122923761, 122923847], [122924120, 122924205], [122926103, 122926252], [122927012, 122927108], [122940417, 122940524], [122941032, 122941056], [122950035, 122950547]] [[122881357, 122881535], [122888800, 122888841], [122893188, 122893258], [122909086, 122909235], [122911422, 122911657], [122923761, 122923847], [122924120, 122924205], [122926103, 122926252], [122927012, 122927108], [122940417, 122940524], [122941032, 122941056], [122950035, 122950090]]
ENST00000361991 [[122881327, 122881535], [122888800, 122888841], [122893188, 122893258], [122909086, 122909235], [122911422, 122911657], [122923761, 122923847], [122924120, 122924205], [122926106, 122926252], [122927012, 122927108], [122930732, 122930828], [122940417, 122940524], [122950035, 122951140]] [[122881357, 122881535], [122888800, 122888841], [122893188, 122893258], [122909086, 122909235], [122911422, 122911657], [122923761, 122923847], [122924120, 122924205], [122926106, 122926252], [122927012, 122927108], [122930732, 122930828], [122940417, 122940524], [122950035, 122950090]]
ENST00000360683 [[122881327, 122881535], [122888800, 122888841], [122893188, 122893258], [122909086, 122909235], [122911422, 122911657], [122923761, 122923847], [122924120, 122924205], [122926106, 122926252], [122927012, 122927108], [122930732, 122930828], [122940417, 122940524], [122941032, 122941056], [122950035, 122952739]] [[122881357, 122881535], [122888800, 122888841], [122893188, 122893258], [122909086, 122909235], [122911422, 122911657], [122923761, 122923847], [122924120, 122924205], [122926106, 122926252], [122927012, 122927108], [122930732, 122930828], [122940417, 122940524], [122941032, 122941056], [122950035, 122950090]]
ENST00000515322 [[122924118, 122924205], [122926103, 122926252], [122927012, 122927108], [122940417, 122940524], [122950035, 122950711]] [[122924118, 122924205], [122926103, 122926252], [122927012, 122927108], [122940417, 122940524], [122950035, 122950090]]
ENST00000508708 [[122847884, 122848264], [122881110, 122881650]] None
ENST00000514131 [[122888658, 122888841], [122893188, 122893258]] None
NM_001270574 [[122847792, 122848264], [122909086, 122909235], [122911422, 122911657], [122923761, 122923847], [122924120, 122924205], [122926103, 122926252], [122927012, 122927108], [122940417, 122940524], [122941032, 122941056], [122950035, 122952739]] [[122909136, 122909235], [122911422, 122911657], [122923761, 122923847], [122924120, 122924205], [122926103, 122926252], [122927012, 122927108], [122940417, 122940524], [122941032, 122941056], [122950035, 122950090]]
NM_001270573 [[122847792, 122848264], [122888800, 122888841], [122893188, 122893258], [122909086, 122909235], [122911422, 122911657], [122923761, 122923847], [122924120, 122924205], [122926106, 122926252], [122927012, 122927108], [122940417, 122940524], [122941032, 122941056], [122950035, 122952739]] [[122893194, 122893258], [122909086, 122909235], [122911422, 122911657], [122923761, 122923847], [122924120, 122924205], [122926106, 122926252], [122927012, 122927108], [122940417, 122940524], [122941032, 122941056], [122950035, 122950090]]
NM_001031812 [[122847792, 122848264], [122881110, 122881535], [122888800, 122888841], [122893188, 122893258], [122909086, 122909235], [122911422, 122911657], [122923761, 122923847], [122924120, 122924205], [122926106, 122926252], [122927012, 122927108], [122940417, 122940524], [122941032, 122941056], [122950035, 122952739]] [[122881357, 122881535], [122888800, 122888841], [122893188, 122893258], [122909086, 122909235], [122911422, 122911657], [122923761, 122923847], [122924120, 122924205], [122926106, 122926252], [122927012, 122927108], [122940417, 122940524], [122941032, 122941056], [122950035, 122950090]]
NM_004384 [[122881110, 122881535], [122888800, 122888841], [122893188, 122893258], [122909086, 122909235], [122911422, 122911657], [122923761, 122923847], [122924120, 122924205], [122926106, 122926252], [122927012, 122927108], [122930732, 122930828], [122940417, 122940524], [122950035, 122952739]] [[122881357, 122881535], [122888800, 122888841], [122893188, 122893258], [122909086, 122909235], [122911422, 122911657], [122923761, 122923847], [122924120, 122924205], [122926106, 122926252], [122927012, 122927108], [122930732, 122930828], [122940417, 122940524], [122950035, 122950090]]
NM_001044723 [[122881110, 122881535], [122888800, 122888841], [122893188, 122893258], [122909086, 122909235], [122911422, 122911657], [122923761, 122923847], [122924120, 122924205], [122926106, 122926252], [122927012, 122927108], [122930732, 122930828], [122940417, 122940524], [122941032, 122941056], [122950035, 122952739]] [[122881357, 122881535], [122888800, 122888841], [122893188, 122893258], [122909086, 122909235], [122911422, 122911657], [122923761, 122923847], [122924120, 122924205], [122926106, 122926252], [122927012, 122927108], [122930732, 122930828], [122940417, 122940524], [122941032, 122941056], [122950035, 122950090]]
NM_001270572 [[122881110, 122881535], [122888800, 122888841], [122893188, 122893258], [122909086, 122909235], [122911422, 122911657], [122923761, 122923847], [122924120, 122924205], [122926103, 122926252], [122927012, 122927108], [122940417, 122940524], [122941032, 122941056], [122950035, 122952739]] [[122881357, 122881535], [122888800, 122888841], [122893188, 122893258], [122909086, 122909235], [122911422, 122911657], [122923761, 122923847], [122924120, 122924205], [122926103, 122926252], [122927012, 122927108], [122940417, 122940524], [122941032, 122941056], [122950035, 122950090]]
Promoter
Chrom Start End Description
chr5 122847781 122847805 CAGE_peak_3_at_CSNK1G3_5end
chr5 122847847 122847859 CAGE_peak_4_at_CSNK1G3_5end
chr5 122847864 122847900 CAGE_peak_2_at_CSNK1G3_5end
chr5 122847908 122847973 CAGE_peak_1_at_CSNK1G3_5end
chr5 122847980 122847992 CAGE_peak_6_at_CSNK1G3_5end
chr5 122848083 122848086 CAGE_peak_9_at_CSNK1G3_5end
chr5 122848089 122848106 CAGE_peak_5_at_CSNK1G3_5end
chr5 122848135 122848146 CAGE_peak_7_at_CSNK1G3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I122773 122773746 122777756 2.23 [{'connected_gene': 'SNX2', 'score': 585.32}, {'connected_gene': 'CEP120', 'score': 31.21}, {'connected_gene': 'CSNK1G3', 'score': 22.92}, {'connected_gene': 'SRFBP1', 'score': 21.05}, {'connected_gene': 'KRT8P33', 'score': 12.87}, {'connected_gene': 'LOX', 'score': 11.13}, {'connected_gene': 'ENSG00000260686', 'score': 10.75}, {'connected_gene': 'PRDM6', 'score': 9.17}, {'connected_gene': 'PPIC', 'score': 8.02}, {'connected_gene': 'RN7SL689P', 'score': 4.61}]
chr5 GH05I123611 123611227 123611396 0.62 [{'connected_gene': 'KRT18P16', 'score': 0.34}, {'connected_gene': 'CSNK1G3', 'score': 0.15}]
chr5 GH05I123421 123421186 123424826 2.1 [{'connected_gene': 'CEP120', 'score': 575.26}, {'connected_gene': 'SNX2', 'score': 35.86}, {'connected_gene': 'KRT8P33', 'score': 25.21}, {'connected_gene': 'CSNK1G3', 'score': 11.37}, {'connected_gene': 'PRDM6', 'score': 7.01}, {'connected_gene': 'PPIC', 'score': 5.16}]
chr5 GH05I122696 122696553 122697569 1.25 [{'connected_gene': 'CEP120', 'score': 99.76}, {'connected_gene': 'CSNK1G3', 'score': 58.15}, {'connected_gene': 'SNX2', 'score': 53.91}, {'connected_gene': 'ENSG00000260686', 'score': 41.7}, {'connected_gene': 'ZNF474', 'score': 39.63}, {'connected_gene': 'KRT8P33', 'score': 30.47}, {'connected_gene': 'SRFBP1', 'score': 21.97}, {'connected_gene': 'LOX', 'score': 21.21}, {'connected_gene': 'SNCAIP', 'score': 13.6}, {'connected_gene': 'RN7SL689P', 'score': 9.81}, {'connected_gene': 'PRDM6', 'score': 7.43}, {'connected_gene': 'ARGFXP1', 'score': 0.34}, {'connected_gene': 'GC05M122721', 'score': 0.31}, {'connected_gene': 'LINC02201', 'score': 0.29}]
chr5 GH05I123510 123510774 123513655 2.08 [{'connected_gene': 'CSNK1G3', 'score': 568.95}, {'connected_gene': 'GC05M123510', 'score': 550.77}, {'connected_gene': 'SNX2', 'score': 15.48}, {'connected_gene': 'CEP120', 'score': 14.05}, {'connected_gene': 'PRDM6', 'score': 6.57}, {'connected_gene': 'KRT18P16', 'score': 0.13}]
chr5 GH05I122758 122758709 122761275 0.77 [{'connected_gene': 'CSNK1G3', 'score': 20.62}, {'connected_gene': 'PPIC', 'score': 15.19}, {'connected_gene': 'ENSG00000260686', 'score': 11.56}, {'connected_gene': 'ZNF474', 'score': 11.36}, {'connected_gene': 'CEP120', 'score': 10.04}, {'connected_gene': 'PRDM6', 'score': 9.17}, {'connected_gene': 'RN7SL689P', 'score': 7.52}, {'connected_gene': 'LOC105379152', 'score': 4.62}, {'connected_gene': 'SNX2', 'score': 0.37}, {'connected_gene': 'LINC02201', 'score': 0.31}]
chr5 GH05I123545 123545458 123545517 0.73 [{'connected_gene': 'CSNK1G3', 'score': 550.29}, {'connected_gene': 'KRT18P16', 'score': 0.16}]
chr5 GH05I123707 123707060 123710325 0.97 [{'connected_gene': 'CSNK1G3', 'score': 4.49}, {'connected_gene': 'GC05P123744', 'score': 0.28}, {'connected_gene': 'KRT18P16', 'score': 0.19}]
chr5 GH05I123516 123516943 123518811 0.56 [{'connected_gene': 'CSNK1G3', 'score': 0.44}, {'connected_gene': 'KRT18P16', 'score': 0.13}]
chr5 GH05I123546 123545677 123545736 0.79 [{'connected_gene': 'CSNK1G3', 'score': 550.29}, {'connected_gene': 'KRT18P16', 'score': 0.16}]
chr5 GH05I123705 123705789 123706810 0.69 [{'connected_gene': 'CSNK1G3', 'score': 4.51}, {'connected_gene': 'GC05P123744', 'score': 0.28}, {'connected_gene': 'KRT18P16', 'score': 0.19}]
chr5 GH05I123671 123671201 123671400 0.66 [{'connected_gene': 'CSNK1G3', 'score': 5.1}, {'connected_gene': 'KRT18P16', 'score': 0.28}, {'connected_gene': 'GC05P123744', 'score': 0.19}]
chr5 GH05I123515 123515893 123516335 0.2 [{'connected_gene': 'CSNK1G3', 'score': 0.77}, {'connected_gene': 'KRT18P16', 'score': 0.13}]
chr5 GH05I123524 123524401 123524600 0.43 [{'connected_gene': 'CSNK1G3', 'score': 4.79}, {'connected_gene': 'KRT18P16', 'score': 0.14}]
chr5 GH05I123672 123671790 123673775 0.66 [{'connected_gene': 'CSNK1G3', 'score': 5.11}, {'connected_gene': 'CEP120', 'score': 4.2}, {'connected_gene': 'KRT18P16', 'score': 0.28}, {'connected_gene': 'GC05P123744', 'score': 0.19}]
chr5 GH05I123548 123548108 123551074 0.98 [{'connected_gene': 'CSNK1G3', 'score': 20.28}, {'connected_gene': 'CEP120', 'score': 8.29}, {'connected_gene': 'KRT18P16', 'score': 0.17}]
chr5 GH05I123428 123428685 123430600 1.23 [{'connected_gene': 'CSNK1G3', 'score': 11.17}, {'connected_gene': 'CEP120', 'score': 0.44}, {'connected_gene': 'HMGB3P17', 'score': 0.28}]
chr5 GH05I123088 123088418 123089497 2.06 [{'connected_gene': 'LOC105379152', 'score': 565.93}, {'connected_gene': 'PRDM6', 'score': 550.23}, {'connected_gene': 'SNX2', 'score': 40.27}, {'connected_gene': 'KRT8P33', 'score': 24.64}, {'connected_gene': 'CEP120', 'score': 19.06}, {'connected_gene': 'CSNK1G3', 'score': 11.19}, {'connected_gene': 'RN7SL711P', 'score': 0.37}]

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