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
ENST00000549687 [[100660917, 100661174], [100676720, 100676925], [100685280, 100685438], [100691808, 100691953], [100704821, 100704971], [100706209, 100706431], [100707199, 100707316], [100708266, 100708392], [100709335, 100709512], [100711580, 100711703], [100717302, 100717416], [100720399, 100720532], [100722978, 100723097], [100727943, 100728044], [100729402, 100729469], [100729588, 100729684], [100731164, 100731182]] [[100676748, 100676925], [100685280, 100685438], [100691808, 100691953], [100704821, 100704971], [100706209, 100706431], [100707199, 100707316], [100708266, 100708392], [100709335, 100709512], [100711580, 100711703], [100717302, 100717416], [100720399, 100720532], [100722978, 100723097], [100727943, 100728044], [100729402, 100729469], [100729588, 100729684], [100731164, 100731182]]
ENST00000548392 [[100660954, 100661174], [100685280, 100685438], [100691808, 100691953], [100704821, 100704971], [100706209, 100706326]] [[100704860, 100704971], [100706209, 100706326]]
ENST00000550067 [[100661026, 100661174], [100676720, 100676925], [100685280, 100685438], [100690539, 100690585]] None
ENST00000360820 [[100661161, 100661570], [100676720, 100676925], [100685280, 100685438], [100691808, 100691953], [100704821, 100704971], [100706209, 100706431], [100707199, 100707316], [100708266, 100708392], [100709335, 100709512], [100711580, 100711703], [100717302, 100717416], [100720399, 100720532], [100722978, 100723097], [100727943, 100728044], [100729402, 100729469], [100729588, 100729684], [100731164, 100731284], [100732305, 100735502]] [[100676748, 100676925], [100685280, 100685438], [100691808, 100691953], [100704821, 100704971], [100706209, 100706431], [100707199, 100707316], [100708266, 100708392], [100709335, 100709512], [100711580, 100711703], [100717302, 100717416], [100720399, 100720532], [100722978, 100723097], [100727943, 100728044], [100729402, 100729469], [100729588, 100729684], [100731164, 100731284], [100732305, 100732950]]
ENST00000549486 [[100676909, 100676925], [100685280, 100685767]] None
ENST00000550251 [[100709334, 100709512], [100711580, 100711703], [100713001, 100713064], [100717302, 100717416], [100720399, 100720423]] [[100709334, 100709512], [100711580, 100711703], [100713001, 100713046]]
ENST00000553148 [[100711492, 100711703], [100717302, 100717614]] None
ENST00000548871 [[100717375, 100717416], [100720399, 100720532], [100720962, 100721012], [100722978, 100723097], [100727943, 100728029]] [[100717375, 100717416], [100720399, 100720532], [100720962, 100720970]]
ENST00000547202 [[100727424, 100728044], [100729402, 100729469], [100729588, 100729684], [100731164, 100731275]] None
ENST00000547735 [[100729368, 100729684], [100731164, 100731284], [100732305, 100732411]] None
NM_001317784 [[100660917, 100661174], [100676720, 100676925], [100685280, 100685438], [100691808, 100691953], [100704821, 100704971], [100706209, 100706431], [100707199, 100707316], [100708266, 100708392], [100709335, 100709512], [100711580, 100711703], [100717302, 100717416], [100720399, 100720532], [100722978, 100723097], [100727943, 100728044], [100729402, 100729469], [100729588, 100729684], [100731164, 100731284], [100732305, 100735502]] [[100676748, 100676925], [100685280, 100685438], [100691808, 100691953], [100704821, 100704971], [100706209, 100706431], [100707199, 100707316], [100708266, 100708392], [100709335, 100709512], [100711580, 100711703], [100717302, 100717416], [100720399, 100720532], [100722978, 100723097], [100727943, 100728044], [100729402, 100729469], [100729588, 100729684], [100731164, 100731284], [100732305, 100732950]]
NM_001330254 [[100660917, 100661174], [100676720, 100676925], [100685280, 100685438], [100691808, 100691953], [100704821, 100704971], [100706209, 100706431], [100707199, 100707316], [100708266, 100708392], [100709335, 100709512], [100711458, 100711470], [100711580, 100711703], [100717302, 100717416], [100720399, 100720532], [100722978, 100723097], [100727943, 100728044], [100729402, 100729469], [100729588, 100729684], [100731164, 100731284], [100732305, 100735502]] [[100676748, 100676925], [100685280, 100685438], [100691808, 100691953], [100704821, 100704971], [100706209, 100706431], [100707199, 100707316], [100708266, 100708392], [100709335, 100709512], [100711458, 100711470], [100711580, 100711703], [100717302, 100717416], [100720399, 100720532], [100722978, 100723097], [100727943, 100728044], [100729402, 100729469], [100729588, 100729684], [100731164, 100731284], [100732305, 100732950]]
NM_001330256 [[100660917, 100661174], [100676720, 100676925], [100685280, 100685438], [100690539, 100690675], [100691808, 100691953], [100704821, 100704971], [100706209, 100706431], [100707199, 100707316], [100708266, 100708392], [100709335, 100709512], [100711458, 100711470], [100711580, 100711703], [100717302, 100717416], [100720399, 100720532], [100722978, 100723097], [100727943, 100728044], [100729402, 100729469], [100729588, 100729684], [100731164, 100731284], [100732305, 100735502]] [[100704860, 100704971], [100706209, 100706431], [100707199, 100707316], [100708266, 100708392], [100709335, 100709512], [100711458, 100711470], [100711580, 100711703], [100717302, 100717416], [100720399, 100720532], [100722978, 100723097], [100727943, 100728044], [100729402, 100729469], [100729588, 100729684], [100731164, 100731284], [100732305, 100732950]]
NM_017988 [[100661161, 100661570], [100676720, 100676925], [100685280, 100685438], [100691808, 100691953], [100704821, 100704971], [100706209, 100706431], [100707199, 100707316], [100708266, 100708392], [100709335, 100709512], [100711580, 100711703], [100717302, 100717416], [100720399, 100720532], [100722978, 100723097], [100727943, 100728044], [100729402, 100729469], [100729588, 100729684], [100731164, 100731284], [100732305, 100735502]] [[100676748, 100676925], [100685280, 100685438], [100691808, 100691953], [100704821, 100704971], [100706209, 100706431], [100707199, 100707316], [100708266, 100708392], [100709335, 100709512], [100711580, 100711703], [100717302, 100717416], [100720399, 100720532], [100722978, 100723097], [100727943, 100728044], [100729402, 100729469], [100729588, 100729684], [100731164, 100731284], [100732305, 100732950]]
NM_001330253 [[100661161, 100661570], [100676720, 100676925], [100685280, 100685438], [100691808, 100691953], [100704821, 100704971], [100706209, 100706431], [100707199, 100707316], [100708266, 100708392], [100709335, 100709512], [100711458, 100711470], [100711580, 100711703], [100717302, 100717416], [100720399, 100720532], [100722978, 100723097], [100727943, 100728044], [100729402, 100729469], [100729588, 100729684], [100731164, 100731284], [100732305, 100735502]] [[100676748, 100676925], [100685280, 100685438], [100691808, 100691953], [100704821, 100704971], [100706209, 100706431], [100707199, 100707316], [100708266, 100708392], [100709335, 100709512], [100711458, 100711470], [100711580, 100711703], [100717302, 100717416], [100720399, 100720532], [100722978, 100723097], [100727943, 100728044], [100729402, 100729469], [100729588, 100729684], [100731164, 100731284], [100732305, 100732950]]
Promoter
Chrom Start End Description
chr12 100660909 100660936 CAGE_peak_5_at_SCYL2_5end
chr12 100660940 100660987 CAGE_peak_2_at_SCYL2_5end
chr12 100660998 100661030 CAGE_peak_3_at_SCYL2_5end
chr12 100661036 100661062 CAGE_peak_4_at_SCYL2_5end
chr12 100661142 100661151 CAGE_peak_6_at_SCYL2_5end
chr12 100661156 100661210 CAGE_peak_1_at_SCYL2_5end
chr12 100661218 100661225 CAGE_peak_7_at_SCYL2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I100500 100500738 100506432 1.35 [{'connected_gene': 'NR1H4', 'score': 561.53}, {'connected_gene': 'UTP20', 'score': 12.93}, {'connected_gene': 'SCYL2', 'score': 11.94}, {'connected_gene': 'ENSG00000271177', 'score': 0.34}]
chr12 GH12I100198 100198905 100203332 2.07 [{'connected_gene': 'ACTR6', 'score': 561.2}, {'connected_gene': 'ENSG00000257489', 'score': 550.77}, {'connected_gene': 'SCYL2', 'score': 23.2}, {'connected_gene': 'GOLGA2P5', 'score': 13.33}, {'connected_gene': 'ANKS1B', 'score': 4.72}, {'connected_gene': 'GC12M100397', 'score': 0.39}]
chr12 GH12I100228 100228913 100231998 0.74 [{'connected_gene': 'SCYL2', 'score': 11.77}, {'connected_gene': 'ACTR6', 'score': 11.22}, {'connected_gene': 'ANKS1B', 'score': 4.66}, {'connected_gene': 'GC12P100217', 'score': 0.39}, {'connected_gene': 'GC12M100398', 'score': 0.34}, {'connected_gene': 'DEPDC4', 'score': 0.28}]
chr12 GH12I100277 100277938 100277997 0.5 [{'connected_gene': 'SCYL2', 'score': 550.39}, {'connected_gene': 'SLC17A8', 'score': 10.73}, {'connected_gene': 'ACTR6', 'score': 10.06}, {'connected_gene': 'DEPDC4', 'score': 0.39}, {'connected_gene': 'GC12M100395', 'score': 0.31}]
chr12 GH12I100266 100266175 100269774 2.02 [{'connected_gene': 'SCYL2', 'score': 564.3}, {'connected_gene': 'DEPDC4', 'score': 550.77}, {'connected_gene': 'ACTR6', 'score': 20.74}, {'connected_gene': 'RN7SL176P', 'score': 4.48}, {'connected_gene': 'GC12M100395', 'score': 0.28}]
chr12 GH12I100279 100279814 100280552 0.52 [{'connected_gene': 'SLC17A8', 'score': 10.73}, {'connected_gene': 'ACTR6', 'score': 10.05}, {'connected_gene': 'SCYL2', 'score': 4.58}, {'connected_gene': 'DEPDC4', 'score': 0.39}, {'connected_gene': 'GC12M100395', 'score': 0.34}]
chr12 GH12I100185 100185201 100186000 0.49 [{'connected_gene': 'UHRF1BP1L', 'score': 11.43}, {'connected_gene': 'SCYL2', 'score': 10.79}, {'connected_gene': 'DEPDC4', 'score': 10.79}, {'connected_gene': 'MIR1827', 'score': 0.77}, {'connected_gene': 'PIR35895', 'score': 0.44}, {'connected_gene': 'ENSG00000257489', 'score': 0.39}]

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