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
ENST00000552276 [[3575492, 3575787], [3582883, 3583078], [3585189, 3585272], [3591305, 3591399], [3591919, 3592053], [3592785, 3592921], [3593363, 3593444], [3593720, 3593817], [3593898, 3593974], [3594249, 3594321], [3594937, 3595088], [3599162, 3599390]] [[3575747, 3575787], [3582883, 3583078], [3585189, 3585272], [3591305, 3591399], [3591919, 3592053], [3592785, 3592921], [3593363, 3593444], [3593720, 3593817], [3593898, 3593974], [3594249, 3594321], [3594937, 3595088], [3599162, 3599299]]
ENST00000435558 [[3575747, 3575787], [3582883, 3583078], [3585189, 3585272], [3591305, 3591399], [3591919, 3592053], [3592785, 3592924], [3593363, 3593444], [3593720, 3593817], [3593898, 3593974], [3594249, 3594321], [3594937, 3595088], [3599162, 3599508]] [[3575747, 3575787], [3582883, 3583078], [3585189, 3585272], [3591305, 3591399], [3591919, 3592053], [3592785, 3592924], [3593363, 3593444], [3593720, 3593817], [3593898, 3593974], [3594249, 3594321], [3594937, 3595088], [3599162, 3599299]]
ENST00000551178 [[3576520, 3577171], [3582883, 3583078], [3585189, 3585272], [3591305, 3591399], [3591919, 3592053], [3592785, 3592921], [3593363, 3593444], [3593720, 3593817], [3593898, 3593974], [3594937, 3595088], [3599162, 3599327]] [[3577161, 3577171], [3582883, 3583078], [3585189, 3585272], [3591305, 3591399], [3591919, 3592053], [3592785, 3592921], [3593363, 3593444], [3593720, 3593817], [3593898, 3593974], [3594937, 3595088], [3599162, 3599299]]
ENST00000547178 [[3576520, 3577171], [3582883, 3583078], [3585189, 3585272], [3591305, 3591399], [3591919, 3592053], [3592785, 3592921], [3593363, 3593444], [3593720, 3593817], [3593898, 3593974], [3594249, 3594321], [3594937, 3595088], [3599162, 3599390]] [[3577161, 3577171], [3582883, 3583078], [3585189, 3585272], [3591305, 3591399], [3591919, 3592053], [3592785, 3592921], [3593363, 3593444], [3593720, 3593817], [3593898, 3593974], [3594249, 3594321], [3594937, 3595088], [3599162, 3599299]]
ENST00000225328 [[3576520, 3577171], [3582883, 3583078], [3585189, 3585272], [3591305, 3591399], [3591919, 3592053], [3592785, 3592924], [3593363, 3593444], [3593720, 3593817], [3593898, 3593974], [3594249, 3594321], [3594937, 3595088], [3599162, 3599698]] [[3577161, 3577171], [3582883, 3583078], [3585189, 3585272], [3591305, 3591399], [3591919, 3592053], [3592785, 3592924], [3593363, 3593444], [3593720, 3593817], [3593898, 3593974], [3594249, 3594321], [3594937, 3595088], [3599162, 3599299]]
ENST00000549063 [[3576523, 3577171], [3579472, 3579620], [3582883, 3583078], [3585189, 3586165]] None
ENST00000345901 [[3576538, 3577171], [3582883, 3583078], [3585189, 3585272], [3591305, 3591399], [3591919, 3592053], [3592785, 3592924], [3593363, 3593444], [3593720, 3593817], [3593898, 3593974], [3594937, 3595088], [3599162, 3599510]] [[3577161, 3577171], [3582883, 3583078], [3585189, 3585272], [3591305, 3591399], [3591919, 3592053], [3592785, 3592924], [3593363, 3593444], [3593720, 3593817], [3593898, 3593974], [3594937, 3595088], [3599162, 3599299]]
ENST00000552456 [[3576544, 3577171], [3582883, 3583078], [3591305, 3591334]] [[3583018, 3583078], [3591305, 3591334]]
ENST00000552050 [[3576893, 3577171], [3582883, 3583078], [3585189, 3585272], [3591305, 3591399], [3591919, 3592053], [3592785, 3592924], [3593363, 3593444], [3593720, 3593817], [3593898, 3593974], [3594937, 3595296]] [[3577161, 3577171], [3582883, 3583078], [3585189, 3585272], [3591305, 3591399], [3591919, 3592053], [3592785, 3592924], [3593363, 3593444], [3593720, 3593817], [3593898, 3593974], [3594937, 3595117]]
ENST00000552723 [[3582904, 3583078], [3585189, 3585272], [3591305, 3591399], [3591919, 3591970], [3593363, 3593444], [3593720, 3593817], [3593898, 3593974], [3594249, 3594321], [3594937, 3595067]] [[3582904, 3583078], [3585189, 3585272], [3591305, 3591399], [3591919, 3591970], [3593363, 3593444], [3593720, 3593817], [3593898, 3593974], [3594249, 3594321], [3594937, 3595067]]
ENST00000550772 [[3588813, 3588874], [3591305, 3591399], [3591919, 3591970], [3593363, 3593444], [3593720, 3593817], [3593898, 3593943]] None
ENST00000547933 [[3593377, 3593817], [3593898, 3593974], [3594249, 3594321], [3594937, 3595088], [3599162, 3599534]] None
NM_002561 [[3576520, 3577171], [3582883, 3583078], [3585189, 3585272], [3591305, 3591399], [3591919, 3592053], [3592785, 3592924], [3593363, 3593444], [3593720, 3593817], [3593898, 3593974], [3594249, 3594321], [3594937, 3595088], [3599162, 3599698]] [[3577161, 3577171], [3582883, 3583078], [3585189, 3585272], [3591305, 3591399], [3591919, 3592053], [3592785, 3592924], [3593363, 3593444], [3593720, 3593817], [3593898, 3593974], [3594249, 3594321], [3594937, 3595088], [3599162, 3599299]]
NM_001204519 [[3576520, 3577171], [3582883, 3583078], [3585189, 3585272], [3591305, 3591399], [3591919, 3592053], [3592785, 3592921], [3593363, 3593444], [3593720, 3593817], [3593898, 3593974], [3594249, 3594321], [3594937, 3595088], [3599162, 3599698]] [[3577161, 3577171], [3582883, 3583078], [3585189, 3585272], [3591305, 3591399], [3591919, 3592053], [3592785, 3592921], [3593363, 3593444], [3593720, 3593817], [3593898, 3593974], [3594249, 3594321], [3594937, 3595088], [3599162, 3599299]]
NM_001204520 [[3576520, 3577171], [3582883, 3583078], [3585189, 3585272], [3591305, 3591399], [3591919, 3592053], [3592785, 3592924], [3593363, 3593444], [3593720, 3593817], [3593898, 3593974], [3594937, 3595088], [3599162, 3599698]] [[3577161, 3577171], [3582883, 3583078], [3585189, 3585272], [3591305, 3591399], [3591919, 3592053], [3592785, 3592924], [3593363, 3593444], [3593720, 3593817], [3593898, 3593974], [3594937, 3595088], [3599162, 3599299]]
NM_175080 [[3576520, 3577171], [3582883, 3583078], [3585189, 3585272], [3591305, 3591399], [3591919, 3592053], [3592785, 3592921], [3593363, 3593444], [3593720, 3593817], [3593898, 3593974], [3594937, 3595088], [3599162, 3599698]] [[3577161, 3577171], [3582883, 3583078], [3585189, 3585272], [3591305, 3591399], [3591919, 3592053], [3592785, 3592921], [3593363, 3593444], [3593720, 3593817], [3593898, 3593974], [3594937, 3595088], [3599162, 3599299]]
Promoter
Chrom Start End Description
chr17 3594324 3594342 CAGE_peak_15_at_P2RX5_5end
chr17 3595042 3595048 CAGE_peak_12_at_P2RX5_5end
chr17 3595124 3595132 CAGE_peak_9_at_P2RX5_5end
chr17 3595181 3595190 CAGE_peak_10_at_P2RX5_5end
chr17 3599396 3599410 CAGE_peak_2_at_P2RX5_5end
chr17 3599492 3599568 CAGE_peak_1_at_P2RX5_5end
chr17 3599696 3599711 CAGE_peak_3_at_P2RX5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I003759 3759169 3760497 0.52 [{'connected_gene': 'HASPIN', 'score': 12.77}, {'connected_gene': 'NCBP3', 'score': 11.77}, {'connected_gene': 'TAX1BP3', 'score': 11.43}, {'connected_gene': 'EMC6', 'score': 11.43}, {'connected_gene': 'P2RX5', 'score': 11.26}, {'connected_gene': 'ENSG00000262358', 'score': 0.29}, {'connected_gene': 'ITGAE', 'score': 0.26}]
chr17 GH17I003750 3750530 3751779 1.25 [{'connected_gene': 'HASPIN', 'score': 12.8}, {'connected_gene': 'P2RX5', 'score': 11.26}, {'connected_gene': 'NCBP3', 'score': 11.19}, {'connected_gene': 'OR1E2', 'score': 4.09}, {'connected_gene': 'OR3A2', 'score': 2.78}, {'connected_gene': 'ATP2A3', 'score': 1.35}, {'connected_gene': 'ENSG00000262358', 'score': 0.34}, {'connected_gene': 'ITGAE', 'score': 0.23}]
chr17 GH17I003751 3751919 3752546 0.54 [{'connected_gene': 'HASPIN', 'score': 12.8}, {'connected_gene': 'P2RX5', 'score': 11.25}, {'connected_gene': 'NCBP3', 'score': 11.19}, {'connected_gene': 'ENSG00000262358', 'score': 0.34}, {'connected_gene': 'ITGAE', 'score': 0.25}]
chr17 GH17I003753 3753333 3754139 0.2 [{'connected_gene': 'HASPIN', 'score': 12.8}, {'connected_gene': 'P2RX5', 'score': 11.25}, {'connected_gene': 'NCBP3', 'score': 11.19}, {'connected_gene': 'ENSG00000262358', 'score': 0.34}, {'connected_gene': 'ITGAE', 'score': 0.25}]
chr17 GH17I003754 3754292 3756106 1.21 [{'connected_gene': 'HASPIN', 'score': 12.78}, {'connected_gene': 'P2RX5', 'score': 11.25}, {'connected_gene': 'NCBP3', 'score': 11.19}, {'connected_gene': 'ENSG00000262358', 'score': 0.31}, {'connected_gene': 'ITGAE', 'score': 0.25}]
chr17 GH17I003833 3833250 3836302 0.43 [{'connected_gene': 'HASPIN', 'score': 11.71}, {'connected_gene': 'P2RX5', 'score': 11.54}, {'connected_gene': 'NCBP3', 'score': 5.99}, {'connected_gene': 'GC17P003828', 'score': 0.44}]
chr17 GH17I003837 3837371 3840199 0.56 [{'connected_gene': 'HASPIN', 'score': 11.71}, {'connected_gene': 'P2RX5', 'score': 11.53}, {'connected_gene': 'NCBP3', 'score': 6.28}, {'connected_gene': 'GC17P003828', 'score': 0.39}]
chr17 GH17I003710 3710418 3713566 1.26 [{'connected_gene': 'HASPIN', 'score': 17.84}, {'connected_gene': 'ENSG00000262692', 'score': 0.44}, {'connected_gene': 'P2RX5', 'score': 0.37}, {'connected_gene': 'P2RX5-TAX1BP3', 'score': 0.37}]
chr17 GH17I003722 3722504 3725173 2.26 [{'connected_gene': 'HASPIN', 'score': 562.29}, {'connected_gene': 'PIR47216', 'score': 550.77}, {'connected_gene': 'PIR39862', 'score': 550.77}, {'connected_gene': 'ZZEF1', 'score': 15.92}, {'connected_gene': 'P2RX5', 'score': 5.39}, {'connected_gene': 'ENSG00000262692', 'score': 0.77}, {'connected_gene': 'ITGAE', 'score': 0.18}]
chr17 GH17I003678 3678067 3678216 0.59 [{'connected_gene': 'EMC6', 'score': 0.44}, {'connected_gene': 'P2RX5', 'score': 0.37}, {'connected_gene': 'P2RX5-TAX1BP3', 'score': 0.37}]
chr17 GH17I003690 3690078 3698219 2.11 [{'connected_gene': 'P2RX5', 'score': 557.94}, {'connected_gene': 'HASPIN', 'score': 11.39}, {'connected_gene': 'P2RX5-TAX1BP3', 'score': 0.77}, {'connected_gene': 'EMC6', 'score': 0.31}]
chr17 GH17I003681 3681491 3683496 1 [{'connected_gene': 'P2RX5', 'score': 0.39}, {'connected_gene': 'EMC6', 'score': 0.39}, {'connected_gene': 'P2RX5-TAX1BP3', 'score': 0.39}]
chr17 GH17I003689 3689801 3690000 0.57 [{'connected_gene': 'P2RX5', 'score': 0.44}, {'connected_gene': 'P2RX5-TAX1BP3', 'score': 0.44}, {'connected_gene': 'EMC6', 'score': 0.34}]
chr17 GH17I003913 3913401 3919199 2.16 [{'connected_gene': 'P2RX1', 'score': 614.97}, {'connected_gene': 'ATP2A3', 'score': 7.23}, {'connected_gene': 'P2RX5', 'score': 6.88}, {'connected_gene': 'SMTNL2', 'score': 5.6}, {'connected_gene': 'ZZEF1', 'score': 3.57}, {'connected_gene': 'UBE2G1', 'score': 2.69}, {'connected_gene': 'GC17M003905', 'score': 0.77}]
chr17 GH17I003798 3798002 3806070 2.16 [{'connected_gene': 'ITGAE', 'score': 550.77}, {'connected_gene': 'HASPIN', 'score': 11.95}, {'connected_gene': 'P2RX5', 'score': 11.53}, {'connected_gene': 'NCBP3', 'score': 5.11}, {'connected_gene': 'ZZEF1', 'score': 3.18}, {'connected_gene': 'CTNS', 'score': 2.55}, {'connected_gene': 'P2RX1', 'score': 1.72}, {'connected_gene': 'GC17M003807', 'score': 0.44}]
chr17 GH17I003665 3665838 3670016 2.24 [{'connected_gene': 'TAX1BP3', 'score': 571.94}, {'connected_gene': 'EMC6', 'score': 550.77}, {'connected_gene': 'CTNS', 'score': 16.81}, {'connected_gene': 'P2RX5', 'score': 11.5}, {'connected_gene': 'HASPIN', 'score': 10.62}, {'connected_gene': 'RPL21P125', 'score': 0.77}, {'connected_gene': 'P2RX5-TAX1BP3', 'score': 0.31}]
chr17 GH17I003683 3683760 3683956 0.31 [{'connected_gene': 'CTNS', 'score': 5.25}, {'connected_gene': 'P2RX5', 'score': 0.39}, {'connected_gene': 'P2RX5-TAX1BP3', 'score': 0.39}, {'connected_gene': 'EMC6', 'score': 0.37}]
chr17 GH17I003662 3662237 3662866 0.31 [{'connected_gene': 'CTNS', 'score': 29.98}, {'connected_gene': 'SHPK', 'score': 12.84}, {'connected_gene': 'P2RX5', 'score': 11.74}, {'connected_gene': 'LOC105371492', 'score': 0.77}, {'connected_gene': 'GC17P003667', 'score': 0.77}, {'connected_gene': 'GC17P003669', 'score': 0.77}, {'connected_gene': 'GC17P003666', 'score': 0.77}]
chr17 GH17I003661 3661847 3662131 0.63 [{'connected_gene': 'CTNS', 'score': 12.84}, {'connected_gene': 'SHPK', 'score': 12.84}, {'connected_gene': 'P2RX5', 'score': 11.74}, {'connected_gene': 'LOC105371492', 'score': 0.77}, {'connected_gene': 'GC17P003667', 'score': 0.77}, {'connected_gene': 'GC17P003669', 'score': 0.77}, {'connected_gene': 'GC17P003666', 'score': 0.77}]
chr17 GH17I003657 3657477 3661589 1.07 [{'connected_gene': 'LOC105371492', 'score': 550.77}, {'connected_gene': 'CTNS', 'score': 58.08}, {'connected_gene': 'SHPK', 'score': 12.87}, {'connected_gene': 'P2RX5', 'score': 11.72}, {'connected_gene': 'TAX1BP3', 'score': 6.57}, {'connected_gene': 'GC17P003667', 'score': 0.44}, {'connected_gene': 'GC17P003669', 'score': 0.44}, {'connected_gene': 'GC17P003666', 'score': 0.44}]
chr17 GH17I003827 3827247 3827416 0.68 [{'connected_gene': 'GC17P003828', 'score': 550.77}, {'connected_gene': 'HASPIN', 'score': 12.51}, {'connected_gene': 'P2RX5', 'score': 11.59}, {'connected_gene': 'CAMKK1', 'score': 10.88}, {'connected_gene': 'GC17P003825', 'score': 0.77}, {'connected_gene': 'NCBP3', 'score': 0.37}]
chr17 GH17I003828 3827747 3829764 0.52 [{'connected_gene': 'GC17P003828', 'score': 550.77}, {'connected_gene': 'HASPIN', 'score': 12.51}, {'connected_gene': 'P2RX5', 'score': 11.59}, {'connected_gene': 'CAMKK1', 'score': 10.88}, {'connected_gene': 'NCBP3', 'score': 4.92}, {'connected_gene': 'GC17P003825', 'score': 0.77}]
chr17 GH17I003719 3719292 3721761 0.89 [{'connected_gene': 'ENSG00000262692', 'score': 550.77}, {'connected_gene': 'HASPIN', 'score': 10.15}, {'connected_gene': 'P2RX5', 'score': 0.34}, {'connected_gene': 'P2RX5-TAX1BP3', 'score': 0.34}, {'connected_gene': 'ITGAE', 'score': 0.18}]
chr17 GH17I003534 3534676 3537003 1.6 [{'connected_gene': 'GC17M003518', 'score': 550.77}, {'connected_gene': 'TRPV3', 'score': 36.18}, {'connected_gene': 'RN7SL608P', 'score': 31.57}, {'connected_gene': 'ZZEF1', 'score': 29.96}, {'connected_gene': 'ANKFY1', 'score': 29.76}, {'connected_gene': 'LOC105371592', 'score': 11.45}, {'connected_gene': 'LOC105371492', 'score': 10.37}, {'connected_gene': 'OR3A3', 'score': 10.27}, {'connected_gene': 'P2RX5', 'score': 9.75}, {'connected_gene': 'SPATA22', 'score': 0.34}]
chr17 GH17I003664 3664084 3665260 0.38 [{'connected_gene': 'GC17P003667', 'score': 550.77}, {'connected_gene': 'GC17P003669', 'score': 550.77}, {'connected_gene': 'RPL21P125', 'score': 550.77}, {'connected_gene': 'GC17P003666', 'score': 550.77}, {'connected_gene': 'TAX1BP3', 'score': 20.27}, {'connected_gene': 'CTNS', 'score': 17.09}, {'connected_gene': 'P2RX5', 'score': 11.48}, {'connected_gene': 'HASPIN', 'score': 10.62}, {'connected_gene': 'LOC105371492', 'score': 0.44}, {'connected_gene': 'P2RX5-TAX1BP3', 'score': 0.29}]

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