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
ENST00000407847 [[122424815, 122425214], [122425694, 122426301], [122435348, 122435656], [122491577, 122491705], [122495207, 122495332], [122506459, 122506802], [122515840, 122516017], [122522780, 122529960]] [[122425709, 122426301], [122435348, 122435656], [122491577, 122491705], [122495207, 122495332], [122506459, 122506802], [122515840, 122516017], [122522780, 122522895]]
ENST00000434521 [[122435439, 122435656], [122506459, 122506802], [122515840, 122515979]] [[122435439, 122435656], [122506459, 122506462]]
ENST00000464424 [[122435440, 122435656], [122491577, 122491705], [122506459, 122506629]] None
ENST00000427739 [[122509094, 122509177], [122515840, 122516013]] None
NM_001136239 [[122424840, 122425214], [122425694, 122426301], [122435348, 122435656], [122491577, 122491705], [122495207, 122495332], [122506459, 122506802], [122515840, 122516017], [122522780, 122523745]] [[122425709, 122426301], [122435348, 122435656], [122491577, 122491705], [122495207, 122495332], [122506459, 122506802], [122515840, 122516017], [122522780, 122522895]]
Promoter
Chrom Start End Description
chr5 122424918 122424944 CAGE_peak_1_at_PRDM6_5end
chr5 122424955 122424988 CAGE_peak_2_at_PRDM6_5end
chr5 122425429 122425438 CAGE_peak_8_at_PRDM6_5end
chr5 122434947 122434959 CAGE_peak_4_at_PRDM6_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I123113 123113298 123115574 0.46 [{'connected_gene': 'PRDM6', 'score': 15.53}, {'connected_gene': 'LOC105379152', 'score': 10.86}, {'connected_gene': 'RN7SL689P', 'score': 4.5}, {'connected_gene': 'GC05P123133', 'score': 0.37}]
chr5 GH05I123135 123135956 123136448 0.2 [{'connected_gene': 'PRDM6', 'score': 15.84}, {'connected_gene': 'LOC105379152', 'score': 11.31}, {'connected_gene': 'GC05P123133', 'score': 0.77}, {'connected_gene': 'GC05P123157', 'score': 0.34}]
chr5 GH05I123129 123129838 123130076 0.38 [{'connected_gene': 'PRDM6', 'score': 4.18}, {'connected_gene': 'GC05P123133', 'score': 0.77}, {'connected_gene': 'LOC105379152', 'score': 0.28}]
chr5 GH05I123115 123115956 123116404 0.38 [{'connected_gene': 'PRDM6', 'score': 4.3}, {'connected_gene': 'GC05P123133', 'score': 0.37}, {'connected_gene': 'LOC105379152', 'score': 0.31}]
chr5 GH05I123145 123145281 123145795 0.2 [{'connected_gene': 'PRDM6', 'score': 4.77}, {'connected_gene': 'GC05P123157', 'score': 0.39}, {'connected_gene': 'GC05P123133', 'score': 0.39}]
chr5 GH05I122698 122698712 122699049 0.59 [{'connected_gene': 'SNX2', 'score': 10.94}, {'connected_gene': 'PRDM6', 'score': 7.64}, {'connected_gene': 'ARGFXP1', 'score': 0.34}, {'connected_gene': 'GC05M122721', 'score': 0.31}, {'connected_gene': 'LINC02201', 'score': 0.29}]
chr5 GH05I122701 122701317 122703229 1.17 [{'connected_gene': 'SNX2', 'score': 18.21}, {'connected_gene': 'PRDM6', 'score': 7.66}, {'connected_gene': 'RN7SL689P', 'score': 7.6}, {'connected_gene': 'ENSG00000260686', 'score': 7.56}, {'connected_gene': 'SNX24', 'score': 5.92}, {'connected_gene': 'GC05M122721', 'score': 0.34}, {'connected_gene': 'LINC02201', 'score': 0.31}, {'connected_gene': 'ARGFXP1', 'score': 0.31}]
chr5 GH05I123161 123161435 123162408 0.2 [{'connected_gene': 'SNX2', 'score': 4.73}, {'connected_gene': 'GC05P123157', 'score': 0.77}, {'connected_gene': 'GC05P123194', 'score': 0.29}, {'connected_gene': 'PRDM6', 'score': 0.13}]
chr5 GH05I123175 123175067 123175256 0.38 [{'connected_gene': 'SNX2', 'score': 6.55}, {'connected_gene': 'GC05P123157', 'score': 0.37}, {'connected_gene': 'GC05P123194', 'score': 0.37}, {'connected_gene': 'PRDM6', 'score': 0.12}]
chr5 GH05I123181 123181242 123182475 0.31 [{'connected_gene': 'SNX2', 'score': 5.34}, {'connected_gene': 'GC05P123194', 'score': 0.39}, {'connected_gene': 'GC05P123157', 'score': 0.34}, {'connected_gene': 'PRDM6', 'score': 0.11}]
chr5 GH05I122750 122750850 122753695 1.07 [{'connected_gene': 'SNX2', 'score': 12.23}, {'connected_gene': 'SNX24', 'score': 10.42}, {'connected_gene': 'ENSG00000260686', 'score': 10.31}, {'connected_gene': 'PRDM6', 'score': 8.57}, {'connected_gene': 'PPIC', 'score': 7.59}, {'connected_gene': 'LINC02201', 'score': 6.3}, {'connected_gene': 'RN7SL689P', 'score': 5.82}]
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 GH05I123035 123035366 123037910 1.96 [{'connected_gene': 'PPIC', 'score': 567.06}, {'connected_gene': 'PRDM6', 'score': 561.8}, {'connected_gene': 'ENSG00000249996', 'score': 550.77}, {'connected_gene': 'SNX2', 'score': 14.34}, {'connected_gene': 'KRT8P33', 'score': 12.41}, {'connected_gene': 'CEP120', 'score': 10.02}, {'connected_gene': 'ENSG00000260686', 'score': 8.35}]
chr5 GH05I123119 123119160 123120055 1.05 [{'connected_gene': 'PPIC', 'score': 12.29}, {'connected_gene': 'PRDM6', 'score': 4.44}, {'connected_gene': 'GC05P123133', 'score': 0.39}, {'connected_gene': 'LOC105379152', 'score': 0.31}]
chr5 GH05I122794 122794519 122799551 0.46 [{'connected_gene': 'PPIC', 'score': 16.18}, {'connected_gene': 'ENSG00000260686', 'score': 12.52}, {'connected_gene': 'SNX2', 'score': 11.02}, {'connected_gene': 'PRDM6', 'score': 9.26}, {'connected_gene': 'RN7SL689P', 'score': 8.16}, {'connected_gene': 'LOC105379152', 'score': 4.08}, {'connected_gene': 'LOC105379154', 'score': 0.25}]
chr5 GH05I122843 122843710 122848491 2.03 [{'connected_gene': 'SNX24', 'score': 563.01}, {'connected_gene': 'GC05M122843', 'score': 550.77}, {'connected_gene': 'LOC105379154', 'score': 550.77}, {'connected_gene': 'SNX2', 'score': 37.02}, {'connected_gene': 'KRT8P33', 'score': 21.74}, {'connected_gene': 'PPIC', 'score': 16.37}, {'connected_gene': 'CEP120', 'score': 10.0}, {'connected_gene': 'ENSG00000260686', 'score': 9.92}, {'connected_gene': 'PRDM6', 'score': 9.19}, {'connected_gene': 'RN7SL689P', 'score': 7.21}, {'connected_gene': 'GC05P122965', 'score': 0.13}]
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 GH05I123125 123123605 123124421 0.31 [{'connected_gene': 'RN7SL689P', 'score': 4.88}, {'connected_gene': 'PRDM6', 'score': 4.46}, {'connected_gene': 'GC05P123133', 'score': 0.44}, {'connected_gene': 'LOC105379152', 'score': 0.29}]
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}]
chr5 GH05I123136 123136652 123137619 0.31 [{'connected_gene': 'LOC105379152', 'score': 11.31}, {'connected_gene': 'PRDM6', 'score': 11.22}, {'connected_gene': 'GC05P123133', 'score': 0.77}, {'connected_gene': 'GC05P123157', 'score': 0.34}]
chr5 GH05I123138 123138642 123139195 0.52 [{'connected_gene': 'LOC105379152', 'score': 11.31}, {'connected_gene': 'PRDM6', 'score': 11.22}, {'connected_gene': 'GC05P123133', 'score': 0.44}, {'connected_gene': 'GC05P123157', 'score': 0.37}]
chr5 GH05I123142 123142932 123143799 0.46 [{'connected_gene': 'LOC105379152', 'score': 11.3}, {'connected_gene': 'PRDM6', 'score': 11.21}, {'connected_gene': 'GC05P123133', 'score': 0.44}, {'connected_gene': 'GC05P123157', 'score': 0.39}]
chr5 GH05I123093 123093150 123096154 0.52 [{'connected_gene': 'LOC105379152', 'score': 0.77}, {'connected_gene': 'GC05P123133', 'score': 0.28}, {'connected_gene': 'PRDM6', 'score': 0.22}]
chr5 GH05I123090 123090200 123090401 1.04 [{'connected_gene': 'LOC105379152', 'score': 556.63}, {'connected_gene': 'GC05P123133', 'score': 0.26}, {'connected_gene': 'PRDM6', 'score': 0.23}]
chr5 GH05I123105 123105857 123106198 0.86 [{'connected_gene': 'LOC105379152', 'score': 0.37}, {'connected_gene': 'GC05P123133', 'score': 0.31}, {'connected_gene': 'PRDM6', 'score': 0.19}]
chr5 GH05I123096 123096633 123097179 0.31 [{'connected_gene': 'LOC105379152', 'score': 0.44}, {'connected_gene': 'GC05P123133', 'score': 0.28}, {'connected_gene': 'PRDM6', 'score': 0.21}]
chr5 GH05I123100 123100713 123101518 0.31 [{'connected_gene': 'LOC105379152', 'score': 0.39}, {'connected_gene': 'GC05P123133', 'score': 0.29}, {'connected_gene': 'PRDM6', 'score': 0.2}]
chr5 GH05I123111 123111551 123112569 0.49 [{'connected_gene': 'LOC105379152', 'score': 11.79}, {'connected_gene': 'PRDM6', 'score': 11.63}, {'connected_gene': 'GC05P123133', 'score': 0.34}]
chr5 GH05I123097 123097665 123100333 1.03 [{'connected_gene': 'LOC105379152', 'score': 7.47}, {'connected_gene': 'ENSG00000260686', 'score': 4.85}, {'connected_gene': 'GC05P123133', 'score': 0.29}, {'connected_gene': 'PRDM6', 'score': 0.21}]
chr5 GH05I123089 123089526 123089675 0.87 [{'connected_gene': 'LOC105379152', 'score': 550.77}, {'connected_gene': 'RN7SL711P', 'score': 0.37}, {'connected_gene': 'PRDM6', 'score': 0.23}]
chr5 GH05I123087 123087826 123087975 0.58 [{'connected_gene': 'LOC105379152', 'score': 0.77}, {'connected_gene': 'RN7SL711P', 'score': 0.37}, {'connected_gene': 'PRDM6', 'score': 0.23}]
chr5 GH05I123152 123151033 123151918 0.31 [{'connected_gene': 'GC05P123157', 'score': 0.44}, {'connected_gene': 'GC05P123133', 'score': 0.37}, {'connected_gene': 'PRDM6', 'score': 0.13}]
chr5 GH05I123147 123147505 123148224 0.2 [{'connected_gene': 'GC05P123157', 'score': 0.44}, {'connected_gene': 'GC05P123133', 'score': 0.39}, {'connected_gene': 'PRDM6', 'score': 0.14}]
chr5 GH05I123168 123168603 123169112 0.2 [{'connected_gene': 'GC05P123157', 'score': 0.39}, {'connected_gene': 'GC05P123194', 'score': 0.31}, {'connected_gene': 'PRDM6', 'score': 0.12}]
chr5 GH05I123163 123163285 123165186 0.31 [{'connected_gene': 'GC05P123157', 'score': 0.44}, {'connected_gene': 'GC05P123194', 'score': 0.31}, {'connected_gene': 'PRDM6', 'score': 0.13}]
chr5 GH05I123143 123143844 123145181 0.31 [{'connected_gene': 'GC05P123157', 'score': 0.39}, {'connected_gene': 'GC05P123133', 'score': 0.39}, {'connected_gene': 'PRDM6', 'score': 0.14}]
chr5 GH05I123180 123179801 123181098 0.56 [{'connected_gene': 'GC05P123194', 'score': 0.39}, {'connected_gene': 'GC05P123157', 'score': 0.34}, {'connected_gene': 'PRDM6', 'score': 0.11}]
chr5 GH05I123179 123179275 123179740 0.2 [{'connected_gene': 'GC05P123194', 'score': 0.39}, {'connected_gene': 'GC05P123157', 'score': 0.34}, {'connected_gene': 'PRDM6', 'score': 0.11}]
chr5 GH05I123155 123155627 123155776 0.95 [{'connected_gene': 'GC05P123157', 'score': 0.77}, {'connected_gene': 'GC05P123133', 'score': 0.34}, {'connected_gene': 'PRDM6', 'score': 0.13}]
chr5 GH05I123170 123170016 123170553 0.2 [{'connected_gene': 'GC05P123157', 'score': 0.39}, {'connected_gene': 'GC05P123194', 'score': 0.34}, {'connected_gene': 'PRDM6', 'score': 0.12}]
chr5 GH05I123171 123171493 123171822 0.6 [{'connected_gene': 'GC05P123157', 'score': 0.39}, {'connected_gene': 'GC05P123194', 'score': 0.34}, {'connected_gene': 'PRDM6', 'score': 0.12}]
chr5 GH05I123151 123151978 123152406 0.31 [{'connected_gene': 'GC05P123157', 'score': 0.44}, {'connected_gene': 'GC05P123133', 'score': 0.37}, {'connected_gene': 'PRDM6', 'score': 0.13}]
chr5 GH05I123156 123156151 123158717 1.7 [{'connected_gene': 'GC05P123157', 'score': 550.77}, {'connected_gene': 'ENSG00000260686', 'score': 9.78}, {'connected_gene': 'SNX2', 'score': 4.69}, {'connected_gene': 'GC05P123133', 'score': 0.34}, {'connected_gene': 'PRDM6', 'score': 0.13}]
chr5 GH05I123123 123123146 123123579 0.2 [{'connected_gene': 'GC05P123133', 'score': 0.39}, {'connected_gene': 'LOC105379152', 'score': 0.29}, {'connected_gene': 'PRDM6', 'score': 0.17}]
chr5 GH05I123126 123126086 123126400 1.12 [{'connected_gene': 'GC05P123133', 'score': 0.44}, {'connected_gene': 'LOC105379152', 'score': 0.28}, {'connected_gene': 'PRDM6', 'score': 0.16}]
chr5 GH05I123120 123120289 123120436 0.54 [{'connected_gene': 'GC05P123133', 'score': 0.39}, {'connected_gene': 'LOC105379152', 'score': 0.29}, {'connected_gene': 'PRDM6', 'score': 0.18}]
chr5 GH05I123124 123124906 123125055 0.2 [{'connected_gene': 'GC05P123133', 'score': 0.44}, {'connected_gene': 'LOC105379152', 'score': 0.29}, {'connected_gene': 'PRDM6', 'score': 0.17}]
chr5 GH05I122721 122721674 122724200 0.88 [{'connected_gene': 'GC05M122721', 'score': 550.77}, {'connected_gene': 'LINC02201', 'score': 10.64}, {'connected_gene': 'RN7SL689P', 'score': 9.3}, {'connected_gene': 'PRDM6', 'score': 6.92}, {'connected_gene': 'ARGFXP1', 'score': 0.25}]

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