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
ENST00000504881 [[121356224, 121356497], [121358064, 121358102], [121411009, 121411265]] None
ENST00000339397 [[121297655, 121297763], [121309890, 121309979], [121311009, 121311082], [121330293, 121330365], [121354954, 121355036], [121355782, 121356497], [121358064, 121358102], [121362636, 121364314]] [[121297727, 121297763], [121309890, 121309979], [121311009, 121311082], [121330293, 121330365], [121354954, 121355036], [121355782, 121356497], [121358064, 121358102], [121362636, 121362821]]
NM_152546 [[121297655, 121297763], [121309890, 121309979], [121311009, 121311082], [121330293, 121330365], [121354954, 121355036], [121355782, 121356497], [121358064, 121358102], [121362636, 121364295]] [[121297727, 121297763], [121309890, 121309979], [121311009, 121311082], [121330293, 121330365], [121354954, 121355036], [121355782, 121356497], [121358064, 121358102], [121362636, 121362821]]
Promoter
Chrom Start End Description
chr5 121297650 121297747 CAGE_peak_1_at_SRFBP1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I122351 122351565 122351898 0.54 [{'connected_gene': 'SNX2', 'score': 12.76}, {'connected_gene': 'LOX', 'score': 11.17}, {'connected_gene': 'SRFBP1', 'score': 11.11}, {'connected_gene': 'ENSG00000249621', 'score': 0.31}, {'connected_gene': 'ENSG00000249916', 'score': 0.29}, {'connected_gene': 'SNCAIP', 'score': 0.26}]
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}]
chr12 GH12I015909 15909655 15912733 1.93 [{'connected_gene': 'DERA', 'score': 550.77}, {'connected_gene': 'SUPT16HP1', 'score': 10.35}, {'connected_gene': 'STRAP', 'score': 7.03}, {'connected_gene': 'EGLN3P1', 'score': 0.21}]
chr5 GH05I122143 122143771 122144974 0.51 [{'connected_gene': 'LOX', 'score': 9.88}, {'connected_gene': 'SRFBP1', 'score': 9.6}, {'connected_gene': 'ZNF474', 'score': 5.69}, {'connected_gene': 'LOC100505841', 'score': 0.39}, {'connected_gene': 'ENSG00000250803', 'score': 0.39}, {'connected_gene': 'ENSG00000247311', 'score': 0.39}]
chr5 GH05I122141 122141487 122143472 0.76 [{'connected_gene': 'LOX', 'score': 10.89}, {'connected_gene': 'SRFBP1', 'score': 9.6}, {'connected_gene': 'ZNF474', 'score': 4.61}, {'connected_gene': 'LOC100505841', 'score': 0.39}, {'connected_gene': 'ENSG00000250803', 'score': 0.39}, {'connected_gene': 'ENSG00000247311', 'score': 0.39}]
chr5 GH05I122111 122111431 122112155 0.88 [{'connected_gene': 'LOX', 'score': 10.97}, {'connected_gene': 'ENSG00000247311', 'score': 10.78}, {'connected_gene': 'ENSG00000249610', 'score': 10.42}, {'connected_gene': 'SRFBP1', 'score': 10.19}, {'connected_gene': 'ZNF474', 'score': 5.4}]
chr5 GH05I122180 122180099 122184485 1.37 [{'connected_gene': 'LOX', 'score': 11.94}, {'connected_gene': 'ENSG00000247311', 'score': 11.11}, {'connected_gene': 'ENSG00000249610', 'score': 11.1}, {'connected_gene': 'ENSG00000250803', 'score': 11.03}, {'connected_gene': 'SRFBP1', 'score': 9.77}, {'connected_gene': 'LOC100505841', 'score': 0.23}, {'connected_gene': 'PIR45845', 'score': 0.15}]
chr5 GH05I122075 122075477 122079525 2.17 [{'connected_gene': 'LOX', 'score': 555.78}, {'connected_gene': 'SRFBP1', 'score': 0.13}]
chr5 GH05I121979 121979801 121980200 0.49 [{'connected_gene': 'LOX', 'score': 11.55}, {'connected_gene': 'SRFBP1', 'score': 0.37}]
chr5 GH05I121967 121967201 121967800 0.43 [{'connected_gene': 'LOX', 'score': 11.29}, {'connected_gene': 'ENSG00000250803', 'score': 10.88}, {'connected_gene': 'ENSG00000247311', 'score': 10.87}, {'connected_gene': 'SRFBP1', 'score': 0.44}]
chr5 GH05I121968 121968309 121970739 0.97 [{'connected_gene': 'LOX', 'score': 11.3}, {'connected_gene': 'ENSG00000250803', 'score': 10.88}, {'connected_gene': 'ENSG00000247311', 'score': 10.87}, {'connected_gene': 'SRFBP1', 'score': 0.44}]
chr12 GH12I015829 15829431 15831572 0.66 [{'connected_gene': 'SUPT16HP1', 'score': 5.09}, {'connected_gene': 'STRAP', 'score': 4.38}, {'connected_gene': 'ENSG00000256953', 'score': 0.77}, {'connected_gene': 'LOC102724146', 'score': 0.23}, {'connected_gene': 'EPS8', 'score': 0.23}]
chr12 GH12I015687 15687421 15694057 1.27 [{'connected_gene': 'EPS8', 'score': 5.64}, {'connected_gene': 'STRAP', 'score': 4.9}, {'connected_gene': 'ENSG00000256564', 'score': 4.49}, {'connected_gene': 'RNU6-251P', 'score': 0.37}, {'connected_gene': 'GC12M015672', 'score': 0.37}, {'connected_gene': 'ENSG00000255565', 'score': 0.17}]
chr12 GH12I015810 15810868 15813439 0.49 [{'connected_gene': 'EPS8', 'score': 11.31}, {'connected_gene': 'RNU6-251P', 'score': 11.22}, {'connected_gene': 'STRAP', 'score': 4.22}, {'connected_gene': 'GC12M015814', 'score': 0.77}, {'connected_gene': 'MRPS7P2', 'score': 0.44}]
chr12 GH12I015852 15852115 15853003 0.54 [{'connected_gene': 'EPS8', 'score': 10.82}, {'connected_gene': 'RNU6-251P', 'score': 10.6}, {'connected_gene': 'STRAP', 'score': 7.03}, {'connected_gene': 'ENSG00000256953', 'score': 0.34}, {'connected_gene': 'LOC102724146', 'score': 0.31}]
chr12 GH12I015855 15855621 15856717 0.83 [{'connected_gene': 'EPS8', 'score': 10.82}, {'connected_gene': 'RNU6-251P', 'score': 10.6}, {'connected_gene': 'STRAP', 'score': 7.14}, {'connected_gene': 'LOC102724146', 'score': 0.31}, {'connected_gene': 'ENSG00000256953', 'score': 0.31}]
chr12 GH12I015698 15698202 15703549 1.44 [{'connected_gene': 'EPS8', 'score': 17.69}, {'connected_gene': 'RNU6-251P', 'score': 12.53}, {'connected_gene': 'STRAP', 'score': 4.52}, {'connected_gene': 'ENSG00000256564', 'score': 4.1}, {'connected_gene': 'GC12M015672', 'score': 0.31}, {'connected_gene': 'ENSG00000255565', 'score': 0.18}]
chr12 GH12I015899 15899387 15899596 0.56 [{'connected_gene': 'STRAP', 'score': 7.08}, {'connected_gene': 'GC12M015893', 'score': 0.77}, {'connected_gene': 'DERA', 'score': 0.39}]
chr5 GH05I121961 121961005 121963826 2.11 [{'connected_gene': 'SRFBP1', 'score': 561.83}, {'connected_gene': 'LOX', 'score': 22.39}, {'connected_gene': 'SNX2', 'score': 12.74}, {'connected_gene': 'ENSG00000250803', 'score': 10.88}, {'connected_gene': 'ENSG00000247311', 'score': 10.87}, {'connected_gene': 'ZNF474', 'score': 10.14}]
chr5 GH05I122102 122102601 122103201 0.8 [{'connected_gene': 'SRFBP1', 'score': 11.33}, {'connected_gene': 'LOX', 'score': 11.21}, {'connected_gene': 'ENSG00000250803', 'score': 11.08}, {'connected_gene': 'ENSG00000247311', 'score': 11.0}, {'connected_gene': 'ZNF474', 'score': 0.31}]
chr5 GH05I122097 122097120 122098080 0.2 [{'connected_gene': 'SRFBP1', 'score': 11.34}, {'connected_gene': 'ENSG00000250803', 'score': 11.06}, {'connected_gene': 'ENSG00000247311', 'score': 10.99}, {'connected_gene': 'ENSG00000249610', 'score': 10.76}, {'connected_gene': 'LOX', 'score': 0.37}, {'connected_gene': 'ZNF474', 'score': 0.29}]
chr5 GH05I122089 122089093 122090584 1.21 [{'connected_gene': 'SRFBP1', 'score': 10.79}, {'connected_gene': 'ENSG00000250803', 'score': 10.34}, {'connected_gene': 'ENSG00000247311', 'score': 10.27}, {'connected_gene': 'ENSG00000249610', 'score': 10.23}, {'connected_gene': 'LOX', 'score': 0.39}, {'connected_gene': 'ZNF474', 'score': 0.28}]
chr5 GH05I122098 122098586 122099711 1.13 [{'connected_gene': 'SRFBP1', 'score': 11.34}, {'connected_gene': 'LOX', 'score': 11.21}, {'connected_gene': 'ZNF474', 'score': 0.29}]
chr5 GH05I122099 122099918 122100033 0.42 [{'connected_gene': 'SRFBP1', 'score': 11.34}, {'connected_gene': 'LOX', 'score': 11.21}, {'connected_gene': 'ZNF474', 'score': 0.31}]
chr5 GH05I121988 121988606 121988755 0.2 [{'connected_gene': 'SRFBP1', 'score': 11.45}, {'connected_gene': 'ENSG00000250803', 'score': 10.06}, {'connected_gene': 'ENSG00000247311', 'score': 10.05}, {'connected_gene': 'LOX', 'score': 0.17}]
chr5 GH05I122063 122063803 122065494 0.2 [{'connected_gene': 'SRFBP1', 'score': 10.21}, {'connected_gene': 'LOX', 'score': 0.39}]
chr12 GH12I015837 15837092 15838303 0.2 [{'connected_gene': 'STRAP', 'score': 18.14}, {'connected_gene': 'EPS8', 'score': 11.43}, {'connected_gene': 'RNU6-251P', 'score': 10.33}, {'connected_gene': 'ENSG00000256953', 'score': 0.44}, {'connected_gene': 'LOC102724146', 'score': 0.26}]
chr12 GH12I015771 15770667 15770776 0.51 [{'connected_gene': 'STRAP', 'score': 11.2}, {'connected_gene': 'EPS8', 'score': 11.2}, {'connected_gene': 'RNU6-251P', 'score': 11.02}, {'connected_gene': 'ENSG00000255565', 'score': 0.44}, {'connected_gene': 'GC12M015672', 'score': 0.15}]
chr12 GH12I015735 15735637 15737619 0.63 [{'connected_gene': 'STRAP', 'score': 6.19}, {'connected_gene': 'ENSG00000255565', 'score': 0.26}, {'connected_gene': 'RNU6-251P', 'score': 0.21}, {'connected_gene': 'GC12M015672', 'score': 0.21}, {'connected_gene': 'EPS8', 'score': 0.11}]
chr12 GH12I015753 15753983 15755098 0.83 [{'connected_gene': 'STRAP', 'score': 6.13}, {'connected_gene': 'ENSG00000255565', 'score': 0.31}, {'connected_gene': 'RNU6-251P', 'score': 0.18}, {'connected_gene': 'GC12M015672', 'score': 0.18}, {'connected_gene': 'EPS8', 'score': 0.13}]
chr12 GH12I015731 15731346 15734399 1.09 [{'connected_gene': 'STRAP', 'score': 4.44}, {'connected_gene': 'ENSG00000255565', 'score': 0.25}, {'connected_gene': 'RNU6-251P', 'score': 0.21}, {'connected_gene': 'GC12M015672', 'score': 0.21}, {'connected_gene': 'EPS8', 'score': 0.11}]
chr12 GH12I015881 15881147 15884390 2.04 [{'connected_gene': 'STRAP', 'score': 558.05}, {'connected_gene': 'LOC102724146', 'score': 550.77}, {'connected_gene': 'EPS8', 'score': 550.77}, {'connected_gene': 'GC12M015893', 'score': 0.39}]
chr12 GH12I015841 15841767 15843272 0.38 [{'connected_gene': 'STRAP', 'score': 7.04}, {'connected_gene': 'ENSG00000256953', 'score': 0.39}, {'connected_gene': 'LOC102724146', 'score': 0.28}, {'connected_gene': 'EPS8', 'score': 0.28}]
chr12 GH12I015884 15884601 15884800 0.38 [{'connected_gene': 'STRAP', 'score': 0.77}, {'connected_gene': 'GC12M015893', 'score': 0.39}]
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}]
chr12 GH12I015725 15725313 15727230 0.94 [{'connected_gene': 'RNU6-251P', 'score': 11.44}, {'connected_gene': 'EPS8', 'score': 11.31}, {'connected_gene': 'STRAP', 'score': 6.13}, {'connected_gene': 'ENSG00000255565', 'score': 0.23}, {'connected_gene': 'GC12M015672', 'score': 0.23}]
chr5 GH05I122332 122332626 122334063 0.83 [{'connected_gene': 'ENSG00000260686', 'score': 17.73}, {'connected_gene': 'SNX2', 'score': 12.75}, {'connected_gene': 'LOX', 'score': 11.18}, {'connected_gene': 'SRFBP1', 'score': 11.11}, {'connected_gene': 'ENSG00000249621', 'score': 0.44}, {'connected_gene': 'SNCAIP', 'score': 0.34}, {'connected_gene': 'ENSG00000249916', 'score': 0.23}]
chr5 GH05I122175 122175035 122176988 0.31 [{'connected_gene': 'ENSG00000247311', 'score': 11.63}, {'connected_gene': 'ENSG00000250803', 'score': 11.54}, {'connected_gene': 'SRFBP1', 'score': 8.95}, {'connected_gene': 'LOX', 'score': 6.87}, {'connected_gene': 'ENSG00000249610', 'score': 0.37}, {'connected_gene': 'LOC100505841', 'score': 0.25}, {'connected_gene': 'PIR45845', 'score': 0.14}]
chr5 GH05I122067 122067302 122067658 0.44 [{'connected_gene': 'ENSG00000250803', 'score': 10.08}, {'connected_gene': 'SRFBP1', 'score': 10.07}, {'connected_gene': 'ENSG00000247311', 'score': 10.04}, {'connected_gene': 'ENSG00000249610', 'score': 10.04}, {'connected_gene': 'LOX', 'score': 4.22}]
chr5 GH05I122121 122121511 122122929 0.76 [{'connected_gene': 'ENSG00000247311', 'score': 11.37}, {'connected_gene': 'ENSG00000249610', 'score': 11.34}, {'connected_gene': 'SRFBP1', 'score': 10.17}, {'connected_gene': 'ZNF474', 'score': 0.44}, {'connected_gene': 'LOX', 'score': 0.26}]
chr5 GH05I122125 122125413 122128037 1.28 [{'connected_gene': 'ENSG00000247311', 'score': 11.39}, {'connected_gene': 'ENSG00000249610', 'score': 11.36}, {'connected_gene': 'SRFBP1', 'score': 10.17}, {'connected_gene': 'ZNF474', 'score': 7.38}, {'connected_gene': 'LOX', 'score': 0.25}]
chr5 GH05I122091 122091820 122095366 1.04 [{'connected_gene': 'ENSG00000250803', 'score': 11.01}, {'connected_gene': 'ENSG00000247311', 'score': 10.94}, {'connected_gene': 'SRFBP1', 'score': 10.88}, {'connected_gene': 'ENSG00000249610', 'score': 10.75}, {'connected_gene': 'ZNF474', 'score': 4.67}, {'connected_gene': 'LOX', 'score': 0.37}]

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