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
ENST00000546961 [[51984049, 51984457], [52056547, 52056604]] None
ENST00000550891 [[51984709, 51984783], [52056547, 52056877], [52077957, 52078076], [52080151, 52080241], [52080874, 52081003], [52082788, 52082880], [52093353, 52093575], [52094927, 52094991], [52096556, 52096698], [52099200, 52099407], [52100205, 52100499], [52115329, 52115692], [52139686, 52139819], [52145138, 52145377], [52156286, 52156460], [52159454, 52160035]] [[52056601, 52056877], [52077957, 52078076], [52080151, 52080241], [52080874, 52081003], [52082788, 52082880], [52093353, 52093575], [52094927, 52094991], [52096556, 52096698], [52099200, 52099407], [52100205, 52100499], [52115329, 52115692], [52139686, 52139819], [52145138, 52145377], [52156286, 52156460], [52159454, 52159829]]
ENST00000354534 [[51985019, 51985143], [52056547, 52056877], [52077957, 52078076], [52080151, 52080241], [52080874, 52081003], [52082541, 52082633], [52093353, 52093575], [52094927, 52094991], [52096556, 52096698], [52099200, 52099407], [52100205, 52100499], [52115329, 52115692], [52139686, 52139819], [52145138, 52145377], [52156286, 52156460], [52159454, 52159811], [52162648, 52163119], [52163651, 52163769], [52164312, 52164467], [52167972, 52168146], [52174432, 52174555], [52180325, 52180610], [52182478, 52182532], [52183064, 52183202], [52184181, 52184286], [52188154, 52188425], [52200065, 52206648]] [[52056601, 52056877], [52077957, 52078076], [52080151, 52080241], [52080874, 52081003], [52082541, 52082633], [52093353, 52093575], [52094927, 52094991], [52096556, 52096698], [52099200, 52099407], [52100205, 52100499], [52115329, 52115692], [52139686, 52139819], [52145138, 52145377], [52156286, 52156460], [52159454, 52159811], [52162648, 52163119], [52163651, 52163769], [52164312, 52164467], [52167972, 52168146], [52174432, 52174555], [52180325, 52180610], [52182478, 52182532], [52183064, 52183202], [52184181, 52184286], [52188154, 52188425], [52200065, 52201213]]
ENST00000545061 [[52056547, 52056877], [52077957, 52078076], [52080151, 52080241], [52080874, 52081003], [52082541, 52082633], [52093353, 52093575], [52094927, 52094991], [52096556, 52096698], [52099200, 52099407], [52100205, 52100499], [52115329, 52115692], [52139686, 52139819], [52145138, 52145377], [52156286, 52156460], [52159454, 52159811], [52162648, 52163119], [52163651, 52163769], [52164312, 52164467], [52167972, 52168146], [52180325, 52180610], [52182478, 52182532], [52183064, 52183202], [52184181, 52184286], [52188154, 52188425], [52200065, 52202297]] [[52056601, 52056877], [52077957, 52078076], [52080151, 52080241], [52080874, 52081003], [52082541, 52082633], [52093353, 52093575], [52094927, 52094991], [52096556, 52096698], [52099200, 52099407], [52100205, 52100499], [52115329, 52115692], [52139686, 52139819], [52145138, 52145377], [52156286, 52156460], [52159454, 52159811], [52162648, 52163119], [52163651, 52163769], [52164312, 52164467], [52167972, 52168146], [52180325, 52180610], [52182478, 52182532], [52183064, 52183202], [52184181, 52184286], [52188154, 52188425], [52200065, 52201213]]
ENST00000355133 [[52056601, 52056877], [52077957, 52078076], [52080151, 52080241], [52080874, 52081003], [52082541, 52082633], [52093353, 52093575], [52094927, 52094991], [52096556, 52096698], [52099200, 52099407], [52100205, 52100499], [52115329, 52115692], [52139686, 52139819], [52145138, 52145377], [52156286, 52156460], [52159454, 52159811], [52162648, 52163119], [52163651, 52163769], [52164312, 52164467], [52167972, 52168146], [52180325, 52180610], [52182478, 52182532], [52183064, 52183202], [52184181, 52184286], [52188154, 52188425], [52200065, 52201213]] [[52056601, 52056877], [52077957, 52078076], [52080151, 52080241], [52080874, 52081003], [52082541, 52082633], [52093353, 52093575], [52094927, 52094991], [52096556, 52096698], [52099200, 52099407], [52100205, 52100499], [52115329, 52115692], [52139686, 52139819], [52145138, 52145377], [52156286, 52156460], [52159454, 52159811], [52162648, 52163119], [52163651, 52163769], [52164312, 52164467], [52167972, 52168146], [52180325, 52180610], [52182478, 52182532], [52183064, 52183202], [52184181, 52184286], [52188154, 52188425]]
ENST00000551216 [[52080206, 52080241], [52080874, 52081003], [52082788, 52082880], [52093353, 52093575], [52094927, 52094991], [52096556, 52096698], [52099200, 52099407], [52100205, 52100499], [52115329, 52115725], [52139686, 52139732]] [[52080995, 52081003], [52082788, 52082880], [52093353, 52093575], [52094927, 52094991], [52096556, 52096698], [52099200, 52099407], [52100205, 52100499], [52115329, 52115725]]
ENST00000548086 [[52168023, 52168146], [52173985, 52174055], [52180325, 52180555]] None
NM_001330260 [[51985019, 51985143], [52056547, 52056877], [52077957, 52078076], [52080151, 52080241], [52080874, 52081003], [52082788, 52082880], [52093353, 52093575], [52094927, 52094991], [52096556, 52096698], [52099200, 52099407], [52100205, 52100499], [52115329, 52115692], [52139686, 52139819], [52145138, 52145377], [52156286, 52156460], [52159454, 52159811], [52162648, 52163119], [52163651, 52163769], [52164312, 52164467], [52167972, 52168146], [52174432, 52174555], [52180325, 52180610], [52182478, 52182532], [52183064, 52183202], [52184181, 52184286], [52188154, 52188425], [52200065, 52206648]] [[52056601, 52056877], [52077957, 52078076], [52080151, 52080241], [52080874, 52081003], [52082788, 52082880], [52093353, 52093575], [52094927, 52094991], [52096556, 52096698], [52099200, 52099407], [52100205, 52100499], [52115329, 52115692], [52139686, 52139819], [52145138, 52145377], [52156286, 52156460], [52159454, 52159811], [52162648, 52163119], [52163651, 52163769], [52164312, 52164467], [52167972, 52168146], [52174432, 52174555], [52180325, 52180610], [52182478, 52182532], [52183064, 52183202], [52184181, 52184286], [52188154, 52188425], [52200065, 52201213]]
NM_001177984 [[51985019, 51985143], [52056547, 52056877], [52077957, 52078076], [52080151, 52080241], [52080874, 52081003], [52082541, 52082633], [52093353, 52093575], [52094927, 52094991], [52096556, 52096698], [52099200, 52099407], [52100205, 52100499], [52115329, 52115692], [52139686, 52139819], [52145138, 52145377], [52156286, 52156460], [52159454, 52159811], [52162648, 52163119], [52163651, 52163769], [52164312, 52164467], [52167972, 52168146], [52180325, 52180610], [52182478, 52182532], [52183064, 52183202], [52184181, 52184286], [52188154, 52188425], [52200065, 52206648]] [[52056601, 52056877], [52077957, 52078076], [52080151, 52080241], [52080874, 52081003], [52082541, 52082633], [52093353, 52093575], [52094927, 52094991], [52096556, 52096698], [52099200, 52099407], [52100205, 52100499], [52115329, 52115692], [52139686, 52139819], [52145138, 52145377], [52156286, 52156460], [52159454, 52159811], [52162648, 52163119], [52163651, 52163769], [52164312, 52164467], [52167972, 52168146], [52180325, 52180610], [52182478, 52182532], [52183064, 52183202], [52184181, 52184286], [52188154, 52188425], [52200065, 52201213]]
NM_014191 [[51985019, 51985143], [52056547, 52056877], [52077957, 52078076], [52080151, 52080241], [52080874, 52081003], [52082541, 52082633], [52093353, 52093575], [52094927, 52094991], [52096556, 52096698], [52099200, 52099407], [52100205, 52100499], [52115329, 52115692], [52139686, 52139819], [52145138, 52145377], [52156286, 52156460], [52159454, 52159811], [52162648, 52163119], [52163651, 52163769], [52164312, 52164467], [52167972, 52168146], [52174432, 52174555], [52180325, 52180610], [52182478, 52182532], [52183064, 52183202], [52184181, 52184286], [52188154, 52188425], [52200065, 52206648]] [[52056601, 52056877], [52077957, 52078076], [52080151, 52080241], [52080874, 52081003], [52082541, 52082633], [52093353, 52093575], [52094927, 52094991], [52096556, 52096698], [52099200, 52099407], [52100205, 52100499], [52115329, 52115692], [52139686, 52139819], [52145138, 52145377], [52156286, 52156460], [52159454, 52159811], [52162648, 52163119], [52163651, 52163769], [52164312, 52164467], [52167972, 52168146], [52174432, 52174555], [52180325, 52180610], [52182478, 52182532], [52183064, 52183202], [52184181, 52184286], [52188154, 52188425], [52200065, 52201213]]
Promoter
Chrom Start End Description
chr12 51984146 51984157 CAGE_peak_11_at_SCN8A_5end
chr12 51984657 51984728 CAGE_peak_2_at_SCN8A_5end
chr12 51984970 51984984 CAGE_peak_3_at_SCN8A_5end
chr12 51985001 51985037 CAGE_peak_1_at_SCN8A_5end
chr12 51985054 51985065 CAGE_peak_5_at_SCN8A_5end
chr12 51985072 51985086 CAGE_peak_4_at_SCN8A_5end
chr12 52056565 52056580 CAGE_peak_8_at_SCN8A_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I051441 51441310 51443066 0.77 [{'connected_gene': 'SLC4A8', 'score': 13.33}, {'connected_gene': 'ENSG00000271065', 'score': 5.23}, {'connected_gene': 'SCN8A', 'score': 3.98}, {'connected_gene': 'POU6F1', 'score': 1.66}, {'connected_gene': 'PIR56141', 'score': 0.39}, {'connected_gene': 'GC12P051454', 'score': 0.39}]
chr12 GH12I051770 51770553 51771761 0.31 [{'connected_gene': 'SLC4A8', 'score': 9.51}, {'connected_gene': 'GALNT6', 'score': 9.51}, {'connected_gene': 'PIR41414', 'score': 0.77}, {'connected_gene': 'GC12P051765', 'score': 0.44}, {'connected_gene': 'SCN8A', 'score': 0.09}]
chr12 GH12I051590 51590537 51593200 2.12 [{'connected_gene': 'SCN8A', 'score': 564.36}, {'connected_gene': 'PIR42272', 'score': 0.19}]
chr12 GH12I051186 51186194 51189394 0.75 [{'connected_gene': 'POU6F1', 'score': 13.27}, {'connected_gene': 'DAZAP2', 'score': 11.22}, {'connected_gene': 'LETMD1', 'score': 10.84}, {'connected_gene': 'CELA1', 'score': 10.52}, {'connected_gene': 'RNU6-1273P', 'score': 10.37}, {'connected_gene': 'SLC11A2', 'score': 9.37}, {'connected_gene': 'CSRNP2', 'score': 6.67}, {'connected_gene': 'SCN8A', 'score': 4.2}, {'connected_gene': 'ENSG00000278126', 'score': 0.39}, {'connected_gene': 'TFCP2', 'score': 0.39}]
chr12 GH12I051183 51183335 51185549 0.64 [{'connected_gene': 'SLC11A2', 'score': 19.13}, {'connected_gene': 'LETMD1', 'score': 14.18}, {'connected_gene': 'POU6F1', 'score': 13.13}, {'connected_gene': 'CSRNP2', 'score': 11.27}, {'connected_gene': 'DAZAP2', 'score': 11.25}, {'connected_gene': 'CELA1', 'score': 10.51}, {'connected_gene': 'RNU6-1273P', 'score': 10.08}, {'connected_gene': 'TFCP2', 'score': 4.58}, {'connected_gene': 'SCN8A', 'score': 4.3}, {'connected_gene': 'ENSG00000278126', 'score': 0.37}]
chr12 GH12I051846 51846439 51849562 1.61 [{'connected_gene': 'FIGNL2', 'score': 552.21}, {'connected_gene': 'LOC105369971', 'score': 550.77}, {'connected_gene': 'SLC4A8', 'score': 14.29}, {'connected_gene': 'ACVRL1', 'score': 12.65}, {'connected_gene': 'ENSG00000261586', 'score': 11.18}, {'connected_gene': 'RNU6-574P', 'score': 10.85}, {'connected_gene': 'GALNT6', 'score': 10.2}, {'connected_gene': 'ANKRD33', 'score': 7.68}, {'connected_gene': 'SCN8A', 'score': 2.05}, {'connected_gene': 'GC12P051832', 'score': 0.37}, {'connected_gene': 'GC12P051838', 'score': 0.37}, {'connected_gene': 'GC12P051835', 'score': 0.37}, {'connected_gene': 'GC12P051836', 'score': 0.37}, {'connected_gene': 'GC12P051837', 'score': 0.37}]
chr12 GH12I051398 51398024 51402500 1.02 [{'connected_gene': 'GALNT6', 'score': 11.21}, {'connected_gene': 'HIGD1C', 'score': 10.67}, {'connected_gene': 'SCN8A', 'score': 7.82}, {'connected_gene': 'SLC4A8', 'score': 5.65}, {'connected_gene': 'METTL7A', 'score': 3.6}, {'connected_gene': 'ENSG00000271065', 'score': 0.34}]
chr12 GH12I051751 51751293 51752994 0.69 [{'connected_gene': 'HNRNPA3P10', 'score': 12.28}, {'connected_gene': 'SCN8A', 'score': 11.26}, {'connected_gene': 'ANKRD33', 'score': 10.11}, {'connected_gene': 'GALNT6', 'score': 9.29}, {'connected_gene': 'SLC4A8', 'score': 9.29}, {'connected_gene': 'GC12P051765', 'score': 0.39}]
chr12 GH12I051721 51721401 51722200 0.51 [{'connected_gene': 'HNRNPA3P10', 'score': 0.44}, {'connected_gene': 'GC12P051765', 'score': 0.26}, {'connected_gene': 'SCN8A', 'score': 0.12}]
chr12 GH12I051773 51773537 51773726 0.7 [{'connected_gene': 'PIR41414', 'score': 0.77}, {'connected_gene': 'GC12P051765', 'score': 0.44}, {'connected_gene': 'SCN8A', 'score': 0.09}]
chr12 GH12I051678 51678197 51678366 0.68 [{'connected_gene': 'GC12M051677', 'score': 0.77}, {'connected_gene': 'PIR42272', 'score': 0.37}, {'connected_gene': 'SCN8A', 'score': 0.17}]
chr12 GH12I051631 51631697 51631846 0.43 [{'connected_gene': 'PIR42272', 'score': 0.29}, {'connected_gene': 'SCN8A', 'score': 0.26}]
chr12 GH12I051816 51816894 51817807 0.43 [{'connected_gene': 'ENSG00000261586', 'score': 550.77}, {'connected_gene': 'SCN8A', 'score': 4.7}, {'connected_gene': 'ENSG00000260473', 'score': 0.77}]
chr12 GH12I051788 51788438 51789367 0.2 [{'connected_gene': 'PIR41414', 'score': 0.39}, {'connected_gene': 'GC12P051810', 'score': 0.34}, {'connected_gene': 'SCN8A', 'score': 0.08}]
chr12 GH12I051636 51636184 51637120 0.46 [{'connected_gene': 'PIR42272', 'score': 0.31}, {'connected_gene': 'SCN8A', 'score': 0.25}]
chr12 GH12I051759 51759337 51759486 0.2 [{'connected_gene': 'GC12P051765', 'score': 0.44}, {'connected_gene': 'HNRNPA3P10', 'score': 0.25}, {'connected_gene': 'SCN8A', 'score': 0.1}]
chr12 GH12I051683 51683501 51684513 0.75 [{'connected_gene': 'GC12M051677', 'score': 0.77}, {'connected_gene': 'HNRNPA3P10', 'score': 0.31}, {'connected_gene': 'SCN8A', 'score': 0.16}]
chr12 GH12I051686 51686585 51688051 0.51 [{'connected_gene': 'GC12M051677', 'score': 0.44}, {'connected_gene': 'HNRNPA3P10', 'score': 0.31}, {'connected_gene': 'SCN8A', 'score': 0.15}]

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