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
ENST00000379516 [[122110690, 122110906], [122130960, 122131078], [122135386, 122135550], [122137563, 122137630], [122137775, 122137819], [122139166, 122139308], [122143971, 122144050], [122151590, 122151666], [122152609, 122152723], [122152974, 122153068], [122154512, 122154718], [122161744, 122161888], [122163073, 122163154], [122163269, 122163341], [122165292, 122165803]] [[122110798, 122110906], [122130960, 122131078], [122135386, 122135550], [122137563, 122137630], [122137775, 122137819], [122139166, 122139308], [122143971, 122144050], [122151590, 122151666], [122152609, 122152723], [122152974, 122153068], [122154512, 122154718], [122161744, 122161888], [122163073, 122163154], [122163269, 122163341], [122165292, 122165343]]
ENST00000514949 [[122110897, 122111457], [122130960, 122131078], [122135386, 122135550], [122137563, 122137630], [122137775, 122137819], [122139166, 122139308], [122143971, 122144050], [122151590, 122151666], [122152609, 122152723], [122152974, 122153068], [122154512, 122154718], [122161744, 122161888], [122163073, 122163154], [122163269, 122163341], [122165292, 122165450]] [[122135511, 122135550], [122137563, 122137630], [122137775, 122137819], [122139166, 122139308], [122143971, 122144050], [122151590, 122151666], [122152609, 122152723], [122152974, 122153068], [122154512, 122154718], [122161744, 122161888], [122163073, 122163154], [122163269, 122163341], [122165292, 122165343]]
ENST00000510372 [[122131230, 122131285], [122135386, 122135550], [122137563, 122137630], [122137775, 122137819], [122139166, 122139308], [122143971, 122144050], [122151590, 122151666], [122152609, 122152723], [122152974, 122153068], [122154512, 122154718], [122161744, 122161888], [122163073, 122163154], [122163269, 122163341], [122165292, 122165366]] None
ENST00000506847 [[122152617, 122152723], [122152974, 122153068], [122154512, 122154718], [122161744, 122161888], [122163269, 122163341], [122165292, 122165468]] None
ENST00000514030 [[122152969, 122153068], [122154512, 122154718], [122161744, 122161888], [122163073, 122163447]] None
ENST00000512394 [[122110773, 122110906], [122130960, 122131078], [122137563, 122137630], [122137775, 122137819], [122139166, 122139308], [122143971, 122144050], [122151590, 122151666], [122152609, 122152713]] [[122110798, 122110906], [122130960, 122131078], [122137563, 122137568]]
ENST00000506874 [[122110776, 122110906], [122111301, 122111371]] None
ENST00000505934 [[122110776, 122110906], [122130960, 122131078], [122135389, 122135550], [122137563, 122137630], [122137775, 122137819], [122139166, 122139308], [122143971, 122144050], [122151590, 122151668]] [[122110798, 122110906], [122130960, 122131078], [122135389, 122135550], [122137563, 122137630], [122137775, 122137819], [122139166, 122139308], [122143971, 122144050], [122151590, 122151668]]
ENST00000505854 [[122110789, 122110906], [122130960, 122131078], [122135386, 122135550], [122137563, 122137630], [122137775, 122137819], [122139166, 122139564]] None
ENST00000511365 [[122139188, 122139308], [122143971, 122144406]] None
ENST00000509281 [[122151262, 122151666], [122152609, 122152723], [122152974, 122153035]] None
ENST00000507321 [[122163015, 122163341], [122165292, 122165450]] None
ENST00000507852 [[122163128, 122163154], [122163269, 122163741]] None
NM_003100 [[122110690, 122110906], [122130960, 122131078], [122135386, 122135550], [122137563, 122137630], [122137775, 122137819], [122139166, 122139308], [122143971, 122144050], [122151590, 122151666], [122152609, 122152723], [122152974, 122153068], [122154512, 122154718], [122161744, 122161888], [122163073, 122163154], [122163269, 122163341], [122165292, 122170234]] [[122110798, 122110906], [122130960, 122131078], [122135386, 122135550], [122137563, 122137630], [122137775, 122137819], [122139166, 122139308], [122143971, 122144050], [122151590, 122151666], [122152609, 122152723], [122152974, 122153068], [122154512, 122154718], [122161744, 122161888], [122163073, 122163154], [122163269, 122163341], [122165292, 122165343]]
NM_001278199 [[122110690, 122111457], [122130960, 122131078], [122135386, 122135550], [122137563, 122137630], [122137775, 122137819], [122139166, 122139308], [122143971, 122144050], [122151590, 122151666], [122152609, 122152723], [122152974, 122153068], [122154512, 122154718], [122161744, 122161888], [122163073, 122163154], [122163269, 122163341], [122165292, 122170234]] [[122135511, 122135550], [122137563, 122137630], [122137775, 122137819], [122139166, 122139308], [122143971, 122144050], [122151590, 122151666], [122152609, 122152723], [122152974, 122153068], [122154512, 122154718], [122161744, 122161888], [122163073, 122163154], [122163269, 122163341], [122165292, 122165343]]
Promoter
Chrom Start End Description
chr5 122110718 122110800 CAGE_peak_1_at_SNX2_5end
chr5 122111045 122111064 CAGE_peak_4_at_SNX2_5end
chr5 122131020 122131033 CAGE_peak_2_at_SNX2_5end
chr5 122163075 122163087 CAGE_peak_3_at_SNX2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
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 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 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 GH05I122852 122852866 122853015 0.43 [{'connected_gene': 'SNX2', 'score': 9.94}, {'connected_gene': 'GC05M122843', 'score': 0.44}, {'connected_gene': 'SNX24', 'score': 0.44}, {'connected_gene': 'GC05P122965', 'score': 0.14}]
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 GH05I122848 122848645 122850992 0.92 [{'connected_gene': 'SNX2', 'score': 24.4}, {'connected_gene': 'KRT8P33', 'score': 12.39}, {'connected_gene': 'CEP120', 'score': 10.0}, {'connected_gene': 'PPIC', 'score': 8.15}, {'connected_gene': 'ENSG00000260686', 'score': 7.14}, {'connected_gene': 'SNX24', 'score': 6.48}, {'connected_gene': 'GC05M122843', 'score': 0.77}, {'connected_gene': 'GC05P122965', 'score': 0.13}]
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 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 GH05I122772 122772259 122772924 0.66 [{'connected_gene': 'PPIC', 'score': 7.7}, {'connected_gene': 'SNX24', 'score': 3.96}, {'connected_gene': 'SNX2', 'score': 3.51}, {'connected_gene': 'LINC02201', 'score': 0.26}]
chr5 GH05I122801 122801709 122803782 0.2 [{'connected_gene': 'SNX24', 'score': 11.13}, {'connected_gene': 'SNX2', 'score': 10.81}, {'connected_gene': 'PPIC', 'score': 8.77}, {'connected_gene': 'RN7SL689P', 'score': 7.82}, {'connected_gene': 'LOC105379152', 'score': 4.08}, {'connected_gene': 'ENSG00000260686', 'score': 0.31}, {'connected_gene': 'LOC105379154', 'score': 0.26}]
chr5 GH05I122877 122877401 122877800 0.38 [{'connected_gene': 'SNX24', 'score': 10.56}, {'connected_gene': 'SNX2', 'score': 10.26}, {'connected_gene': 'GC05M122843', 'score': 0.29}, {'connected_gene': 'GC05P122965', 'score': 0.17}]
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 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 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 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 GH05I122741 122741440 122744560 0.46 [{'connected_gene': 'LINC02201', 'score': 9.37}, {'connected_gene': 'ENSG00000260686', 'score': 7.18}, {'connected_gene': 'SNX24', 'score': 5.28}, {'connected_gene': 'SNX2', 'score': 0.29}]
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 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 GH05I122811 122811826 122813386 0.54 [{'connected_gene': 'ENSG00000260686', 'score': 27.16}, {'connected_gene': 'SNX2', 'score': 21.3}, {'connected_gene': 'CEP120', 'score': 19.58}, {'connected_gene': 'SNX24', 'score': 19.56}, {'connected_gene': 'RN7SL689P', 'score': 15.58}, {'connected_gene': 'KRT8P33', 'score': 10.5}, {'connected_gene': 'ZNF474', 'score': 9.91}, {'connected_gene': 'LOC105379152', 'score': 4.55}, {'connected_gene': 'LOC105379154', 'score': 0.29}]
chr5 GH05I122806 122806741 122811367 0.2 [{'connected_gene': 'ENSG00000260686', 'score': 12.9}, {'connected_gene': 'SNX24', 'score': 11.23}, {'connected_gene': 'SNX2', 'score': 10.82}, {'connected_gene': 'PPIC', 'score': 8.19}, {'connected_gene': 'RN7SL689P', 'score': 8.05}, {'connected_gene': 'LOC105379154', 'score': 0.28}]
chr5 GH05I122755 122755748 122757191 0.91 [{'connected_gene': 'ENSG00000260686', 'score': 9.57}, {'connected_gene': 'RN7SL689P', 'score': 5.62}, {'connected_gene': 'SNX24', 'score': 4.92}, {'connected_gene': 'SNX2', 'score': 0.37}, {'connected_gene': 'LINC02201', 'score': 0.31}]

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