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
ENST00000458054 [[196440700, 196440806], [196470859, 196470957], [196544755, 196545144]] [[196544766, 196545144]]
ENST00000409086 [[196521470, 196521734], [196544755, 196545774], [196548422, 196548630], [196571339, 196571509], [196573379, 196573568], [196578156, 196578277], [196581360, 196581729], [196582975, 196583056], [196592882, 196593073], [196599606, 196602426]] [[196544766, 196545774], [196548422, 196548630], [196571339, 196571509], [196573379, 196573568], [196578156, 196578277], [196581360, 196581729], [196582975, 196583056], [196592882, 196593073], [196599606, 196599765]]
ENST00000444421 [[196521634, 196521734], [196544755, 196544772], [196545616, 196545774], [196548422, 196548630], [196571339, 196571400]] [[196544766, 196544772], [196545616, 196545730]]
ENST00000359634 [[196521851, 196522005], [196544755, 196545774], [196548422, 196548630], [196571339, 196571509], [196573379, 196573568], [196578156, 196578277], [196581360, 196581729], [196582975, 196583056], [196592882, 196593073], [196599606, 196602426]] [[196544766, 196545774], [196548422, 196548630], [196571339, 196571509], [196573379, 196573568], [196578156, 196578277], [196581360, 196581729], [196582975, 196583056], [196592882, 196593073], [196599606, 196599765]]
ENST00000430412 [[196521851, 196522005], [196544755, 196544772], [196545616, 196545774], [196548422, 196548630], [196571339, 196571509], [196573379, 196573568], [196578156, 196578277], [196581360, 196581729], [196582975, 196583056], [196592882, 196593073], [196599606, 196602426]] [[196544766, 196544772], [196545616, 196545730]]
ENST00000412905 [[196521859, 196522005], [196536380, 196536444], [196544755, 196544882]] [[196544766, 196544882]]
ENST00000541054 [[196521911, 196522005], [196544755, 196544772], [196545616, 196545774], [196548422, 196548630], [196571339, 196571509], [196573379, 196573568], [196578156, 196578277], [196581360, 196581729], [196582975, 196583056], [196592882, 196593073], [196599606, 196600227]] [[196571473, 196571509], [196573379, 196573568], [196578156, 196578277], [196581360, 196581729], [196582975, 196583056], [196592882, 196593073], [196599606, 196599765]]
ENST00000464301 [[196521958, 196522005], [196522787, 196523311]] None
ENST00000418005 [[196522172, 196522333], [196544755, 196545157]] [[196544766, 196545157]]
ENST00000465851 [[196545200, 196545774], [196548422, 196548630], [196571339, 196571509], [196573379, 196573568], [196578156, 196578277], [196581360, 196582107]] None
NM_001127257 [[196521531, 196521734], [196544755, 196545774], [196548422, 196548630], [196571339, 196571509], [196573379, 196573568], [196578156, 196578277], [196581360, 196581729], [196582975, 196583056], [196592882, 196593073], [196599606, 196602426]] [[196544766, 196545774], [196548422, 196548630], [196571339, 196571509], [196573379, 196573568], [196578156, 196578277], [196581360, 196581729], [196582975, 196583056], [196592882, 196593073], [196599606, 196599765]]
NM_020342 [[196521851, 196522005], [196544755, 196545774], [196548422, 196548630], [196571339, 196571509], [196573379, 196573568], [196578156, 196578277], [196581360, 196581729], [196582975, 196583056], [196592882, 196593073], [196599606, 196602426]] [[196544766, 196545774], [196548422, 196548630], [196571339, 196571509], [196573379, 196573568], [196578156, 196578277], [196581360, 196581729], [196582975, 196583056], [196592882, 196593073], [196599606, 196599765]]
Promoter
Chrom Start End Description
chr2 196440692 196440709 CAGE_peak_9_at_SLC39A10_5end
chr2 196440724 196440739 CAGE_peak_15_at_SLC39A10_5end
chr2 196521458 196521491 CAGE_peak_7_at_SLC39A10_5end
chr2 196521610 196521660 CAGE_peak_5_at_SLC39A10_5end
chr2 196521674 196521689 CAGE_peak_6_at_SLC39A10_5end
chr2 196521845 196521869 CAGE_peak_3_at_SLC39A10_5end
chr2 196521879 196521894 CAGE_peak_4_at_SLC39A10_5end
chr2 196521903 196521986 CAGE_peak_1_at_SLC39A10_5end
chr2 196522032 196522052 CAGE_peak_2_at_SLC39A10_5end
chr2 196545004 196545020 CAGE_peak_33_at_SLC39A10_5end
chr2 196545118 196545142 CAGE_peak_10_at_SLC39A10_5end
chr2 196600546 196600551 CAGE_peak_8_at_SLC39A10_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I196157 196157411 196179344 2.47 [{'connected_gene': 'STK17B', 'score': 555.7}, {'connected_gene': 'DNAH7', 'score': 29.97}, {'connected_gene': 'GTF3C3', 'score': 14.99}, {'connected_gene': 'ENSG00000272211', 'score': 12.54}, {'connected_gene': 'SLC39A10', 'score': 4.4}, {'connected_gene': 'LOC101927482', 'score': 4.08}, {'connected_gene': 'LOC101927454', 'score': 0.77}, {'connected_gene': 'GC02M196143', 'score': 0.18}]
chr2 GH02I195655 195655622 195660717 2.58 [{'connected_gene': 'SLC39A10', 'score': 565.29}, {'connected_gene': 'DNAH7', 'score': 23.15}, {'connected_gene': 'RNU6-169P', 'score': 11.48}, {'connected_gene': 'LINC01827', 'score': 11.42}, {'connected_gene': 'LOC100420572', 'score': 10.47}, {'connected_gene': 'STK17B', 'score': 5.52}, {'connected_gene': 'GC02P195660', 'score': 0.77}, {'connected_gene': 'AHCYP5', 'score': 0.19}]
chr2 GH02I195579 195579201 195580936 1.08 [{'connected_gene': 'SLC39A10', 'score': 0.77}, {'connected_gene': 'AHCYP5', 'score': 0.77}]
chr2 GH02I195622 195622390 195623823 0.46 [{'connected_gene': 'SLC39A10', 'score': 11.34}, {'connected_gene': 'LINC01827', 'score': 11.34}, {'connected_gene': 'DNAH7', 'score': 9.27}, {'connected_gene': 'AHCYP5', 'score': 0.28}, {'connected_gene': 'GC02P195660', 'score': 0.28}]
chr2 GH02I195653 195653156 195655292 0.2 [{'connected_gene': 'SLC39A10', 'score': 11.12}, {'connected_gene': 'LINC01827', 'score': 11.12}, {'connected_gene': 'DNAH7', 'score': 5.63}, {'connected_gene': 'GC02P195660', 'score': 0.44}, {'connected_gene': 'AHCYP5', 'score': 0.19}]
chr2 GH02I195612 195611802 195615678 1.36 [{'connected_gene': 'SLC39A10', 'score': 10.82}, {'connected_gene': 'LINC01827', 'score': 10.82}, {'connected_gene': 'DNAH7', 'score': 7.66}, {'connected_gene': 'LINC01825', 'score': 6.29}, {'connected_gene': 'AHCYP5', 'score': 6.0}, {'connected_gene': 'LOC101927482', 'score': 5.08}, {'connected_gene': 'GC02P195660', 'score': 0.25}]
chr2 GH02I195647 195647993 195652039 1.35 [{'connected_gene': 'SLC39A10', 'score': 22.63}, {'connected_gene': 'LINC01827', 'score': 11.22}, {'connected_gene': 'DNAH7', 'score': 8.64}, {'connected_gene': 'LOC101927482', 'score': 4.89}, {'connected_gene': 'ENSG00000272211', 'score': 4.41}, {'connected_gene': 'GC02P195660', 'score': 0.39}, {'connected_gene': 'AHCYP5', 'score': 0.2}]
chr2 GH02I195537 195537937 195538086 0.4 [{'connected_gene': 'SLC39A10', 'score': 11.75}, {'connected_gene': 'LINC01827', 'score': 11.75}, {'connected_gene': 'DNAH7', 'score': 10.11}, {'connected_gene': 'LOC100420572', 'score': 10.11}, {'connected_gene': 'LINC01825', 'score': 0.77}]
chr2 GH02I195600 195600897 195601046 0.57 [{'connected_gene': 'SLC39A10', 'score': 11.34}, {'connected_gene': 'LINC01827', 'score': 11.31}, {'connected_gene': 'AHCYP5', 'score': 0.37}, {'connected_gene': 'GC02P195660', 'score': 0.22}]
chr2 GH02I195575 195575611 195576862 1.11 [{'connected_gene': 'SLC39A10', 'score': 550.77}, {'connected_gene': 'LINC01827', 'score': 550.77}, {'connected_gene': 'AHCYP5', 'score': 0.44}]
chr2 GH02I195574 195574400 195575000 0.75 [{'connected_gene': 'SLC39A10', 'score': 550.77}, {'connected_gene': 'LINC01827', 'score': 550.77}, {'connected_gene': 'LINC01825', 'score': 8.62}]
chr2 GH02I195482 195482099 195482774 0.2 [{'connected_gene': 'SLC39A10', 'score': 11.02}, {'connected_gene': 'LINC01827', 'score': 11.02}, {'connected_gene': 'GC02M195464', 'score': 0.37}, {'connected_gene': 'ENSG00000271893', 'score': 0.29}, {'connected_gene': 'GC02P195515', 'score': 0.29}]
chr2 GH02I195478 195477924 195478596 0.2 [{'connected_gene': 'SLC39A10', 'score': 11.01}, {'connected_gene': 'LINC01827', 'score': 11.01}, {'connected_gene': 'ENSG00000272211', 'score': 5.02}, {'connected_gene': 'GC02M195464', 'score': 0.39}, {'connected_gene': 'ENSG00000224099', 'score': 0.31}, {'connected_gene': 'ENSG00000271893', 'score': 0.28}, {'connected_gene': 'GC02P195515', 'score': 0.28}]
chr2 GH02I195477 195477677 195477906 0.63 [{'connected_gene': 'SLC39A10', 'score': 11.01}, {'connected_gene': 'LINC01827', 'score': 11.01}, {'connected_gene': 'GC02M195464', 'score': 0.39}, {'connected_gene': 'ENSG00000224099', 'score': 0.31}, {'connected_gene': 'ENSG00000271893', 'score': 0.28}, {'connected_gene': 'GC02P195515', 'score': 0.28}]
chr2 GH02I195646 195646077 195647675 0.97 [{'connected_gene': 'DNAH7', 'score': 5.69}, {'connected_gene': 'STK17B', 'score': 4.2}, {'connected_gene': 'GC02P195660', 'score': 0.39}, {'connected_gene': 'AHCYP5', 'score': 0.21}, {'connected_gene': 'SLC39A10', 'score': 0.19}]
chr2 GH02I195706 195706290 195707005 0.38 [{'connected_gene': 'DNAH7', 'score': 4.68}, {'connected_gene': 'GC02M195697', 'score': 0.44}, {'connected_gene': 'GC02P195696', 'score': 0.39}, {'connected_gene': 'LOC105373819', 'score': 0.17}, {'connected_gene': 'SLC39A10', 'score': 0.12}]
chr2 GH02I195708 195708920 195711154 0.43 [{'connected_gene': 'DNAH7', 'score': 9.19}, {'connected_gene': 'GC02P195696', 'score': 0.39}, {'connected_gene': 'GC02M195697', 'score': 0.39}, {'connected_gene': 'LOC105373819', 'score': 0.17}, {'connected_gene': 'SLC39A10', 'score': 0.12}]
chr2 GH02I196106 196106001 196106400 0.64 [{'connected_gene': 'DNAH7', 'score': 10.76}, {'connected_gene': 'LOC100420572', 'score': 10.73}, {'connected_gene': 'SLC39A10', 'score': 1.4}, {'connected_gene': 'ENSG00000272211', 'score': 0.25}]
chr2 GH02I195665 195665167 195668793 0.52 [{'connected_gene': 'DNAH7', 'score': 22.9}, {'connected_gene': 'LOC100420572', 'score': 10.93}, {'connected_gene': 'RNU6-915P', 'score': 0.77}, {'connected_gene': 'GC02P195660', 'score': 0.44}, {'connected_gene': 'SLC39A10', 'score': 0.16}]
chr2 GH02I195611 195611000 195611400 0.2 [{'connected_gene': 'AHCYP5', 'score': 0.31}, {'connected_gene': 'SLC39A10', 'score': 0.28}, {'connected_gene': 'GC02P195660', 'score': 0.25}]
chr2 GH02I195591 195591649 195592818 0.38 [{'connected_gene': 'AHCYP5', 'score': 0.44}, {'connected_gene': 'SLC39A10', 'score': 0.37}, {'connected_gene': 'GC02P195660', 'score': 0.2}]
chr2 GH02I195585 195585771 195586670 0.38 [{'connected_gene': 'AHCYP5', 'score': 7.14}, {'connected_gene': 'SLC39A10', 'score': 0.39}, {'connected_gene': 'GC02P195660', 'score': 0.19}]
chr2 GH02I195589 195589994 195591423 0.4 [{'connected_gene': 'LINC01825', 'score': 5.53}, {'connected_gene': 'AHCYP5', 'score': 0.44}, {'connected_gene': 'SLC39A10', 'score': 0.39}, {'connected_gene': 'GC02P195660', 'score': 0.2}]
chr2 GH02I195531 195531673 195537627 1.86 [{'connected_gene': 'LINC01825', 'score': 560.01}, {'connected_gene': 'RNU6-169P', 'score': 12.71}, {'connected_gene': 'LINC01827', 'score': 11.75}, {'connected_gene': 'SLC39A10', 'score': 11.73}, {'connected_gene': 'DNAH7', 'score': 10.11}, {'connected_gene': 'LOC100420572', 'score': 10.11}]
chr2 GH02I195557 195557508 195565560 1.58 [{'connected_gene': 'RNU6-169P', 'score': 12.25}, {'connected_gene': 'LINC01825', 'score': 9.07}, {'connected_gene': 'SLC39A10', 'score': 2.37}, {'connected_gene': 'LINC01827', 'score': 0.39}]
chr2 GH02I195509 195509618 195511088 0.2 [{'connected_gene': 'LINC01827', 'score': 10.64}, {'connected_gene': 'SLC39A10', 'score': 10.63}, {'connected_gene': 'LINC01825', 'score': 8.38}, {'connected_gene': 'GC02P195515', 'score': 0.77}, {'connected_gene': 'ENSG00000271893', 'score': 0.44}, {'connected_gene': 'GC02M195464', 'score': 0.26}]
chr2 GH02I195479 195478911 195481227 0.31 [{'connected_gene': 'LINC01827', 'score': 11.02}, {'connected_gene': 'SLC39A10', 'score': 11.01}, {'connected_gene': 'GC02M195464', 'score': 0.39}, {'connected_gene': 'GC02P195515', 'score': 0.29}, {'connected_gene': 'ENSG00000224099', 'score': 0.29}, {'connected_gene': 'ENSG00000271893', 'score': 0.28}]
chr2 GH02I195495 195495427 195496068 0.2 [{'connected_gene': 'LINC01827', 'score': 10.91}, {'connected_gene': 'SLC39A10', 'score': 10.91}, {'connected_gene': 'ENSG00000271893', 'score': 0.37}, {'connected_gene': 'GC02P195515', 'score': 0.37}, {'connected_gene': 'GC02M195464', 'score': 0.31}]
chr2 GH02I195484 195484195 195485756 0.2 [{'connected_gene': 'LINC01827', 'score': 11.03}, {'connected_gene': 'SLC39A10', 'score': 11.02}, {'connected_gene': 'ENSG00000272211', 'score': 5.02}, {'connected_gene': 'GC02M195464', 'score': 0.37}, {'connected_gene': 'GC02P195515', 'score': 0.31}, {'connected_gene': 'ENSG00000271893', 'score': 0.29}]
chr2 GH02I195594 195594157 195596999 0.92 [{'connected_gene': 'LINC01827', 'score': 11.6}, {'connected_gene': 'AHCYP5', 'score': 7.57}, {'connected_gene': 'DNAH7', 'score': 6.23}, {'connected_gene': 'LINC01825', 'score': 5.48}, {'connected_gene': 'SLC39A10', 'score': 0.37}, {'connected_gene': 'GC02P195660', 'score': 0.21}]
chr2 GH02I195694 195694444 195695765 0.63 [{'connected_gene': 'GC02P195696', 'score': 550.77}, {'connected_gene': 'DNAH7', 'score': 13.32}, {'connected_gene': 'GC02M195685', 'score': 0.44}, {'connected_gene': 'SLC39A10', 'score': 0.13}]
chr2 GH02I195661 195661401 195663200 0.96 [{'connected_gene': 'GC02P195660', 'score': 550.77}, {'connected_gene': 'DNAH7', 'score': 19.67}, {'connected_gene': 'LOC100420572', 'score': 10.7}, {'connected_gene': 'SLC39A10', 'score': 10.59}, {'connected_gene': 'LINC01827', 'score': 10.59}, {'connected_gene': 'RNU6-915P', 'score': 0.44}]
chr2 GH02I195633 195633201 195633400 0.51 [{'connected_gene': 'GC02P195660', 'score': 0.31}, {'connected_gene': 'AHCYP5', 'score': 0.25}, {'connected_gene': 'SLC39A10', 'score': 0.22}]
chr2 GH02I195637 195637017 195637166 0.54 [{'connected_gene': 'GC02P195660', 'score': 0.34}, {'connected_gene': 'AHCYP5', 'score': 0.23}, {'connected_gene': 'SLC39A10', 'score': 0.21}]
chr2 GH02I195682 195682839 195683097 0.23 [{'connected_gene': 'GC02M195685', 'score': 0.77}, {'connected_gene': 'RNU6-915P', 'score': 0.39}, {'connected_gene': 'SLC39A10', 'score': 0.14}]

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