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
ENST00000382374 [[22066838, 22067492], [22069299, 22069457], [22070190, 22070299], [22077064, 22077236], [22084142, 22084240], [22088491, 22088557], [22095383, 22095466], [22096741, 22096789], [22113440, 22113516], [22113795, 22113827], [22140935, 22141083], [22178077, 22178353]] [[22067387, 22067492], [22069299, 22069457], [22070190, 22070299], [22077064, 22077236], [22084142, 22084240], [22088491, 22088557], [22095383, 22095466], [22096741, 22096789], [22113440, 22113516], [22113795, 22113827], [22140935, 22141083], [22178077, 22178287]]
ENST00000476895 [[22084165, 22084240], [22088491, 22088557], [22095383, 22095466], [22096741, 22096789], [22113440, 22113516], [22113795, 22113827], [22140935, 22141083], [22157012, 22157062], [22177712, 22177850]] None
ENST00000469058 [[22084165, 22084240], [22088491, 22088557], [22095383, 22095466], [22096741, 22096789], [22113440, 22113516], [22113795, 22113827], [22140935, 22141083], [22176882, 22176957], [22178077, 22178304]] None
ENST00000468222 [[22084221, 22084240], [22088491, 22088557], [22089672, 22089699], [22095383, 22095466], [22096741, 22096789], [22113440, 22113516], [22113795, 22113827], [22140935, 22141083], [22178077, 22178320]] [[22084221, 22084240], [22088491, 22088557], [22089672, 22089699], [22095383, 22095466], [22096741, 22096789], [22113440, 22113516], [22113795, 22113827], [22140935, 22141083], [22178077, 22178287]]
ENST00000479790 [[22066835, 22067492], [22069299, 22070299], [22077064, 22077212]] None
ENST00000460488 [[22067075, 22067492], [22069299, 22069457], [22077064, 22077237]] None
ENST00000478700 [[22067242, 22067492], [22069299, 22069457], [22070190, 22070791]] None
ENST00000480341 [[22076965, 22077236], [22084142, 22084240], [22088491, 22088557], [22089672, 22089800]] None
NM_152726 [[22066827, 22067492], [22069299, 22069457], [22070190, 22070299], [22077064, 22077236], [22084142, 22084240], [22088491, 22088557], [22095383, 22095466], [22096741, 22096789], [22113440, 22113516], [22113795, 22113827], [22140935, 22141083], [22178077, 22178355]] [[22067387, 22067492], [22069299, 22069457], [22070190, 22070299], [22077064, 22077236], [22084142, 22084240], [22088491, 22088557], [22095383, 22095466], [22096741, 22096789], [22113440, 22113516], [22113795, 22113827], [22140935, 22141083], [22178077, 22178287]]
Promoter
Chrom Start End Description
chr13 22178284 22178318 CAGE_peak_1_at_EFHA1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I021511 21511598 21512491 0.2 [{'connected_gene': 'ZDHHC20', 'score': 6.29}, {'connected_gene': 'FNTAP2', 'score': 0.37}, {'connected_gene': 'GC13P021491', 'score': 0.34}, {'connected_gene': 'MICU2', 'score': 0.16}]
chr13 GH13I021464 21464962 21467704 0.68 [{'connected_gene': 'ZDHHC20', 'score': 8.29}, {'connected_gene': 'MICU2', 'score': 5.82}, {'connected_gene': 'HIST1H2BPS3', 'score': 0.37}]
chr13 GH13I021528 21528302 21530188 0.43 [{'connected_gene': 'FNTAP2', 'score': 550.77}, {'connected_gene': 'MICU2', 'score': 7.09}, {'connected_gene': 'GC13P021491', 'score': 0.28}]
chr13 GH13I021522 21522982 21523091 0.74 [{'connected_gene': 'FNTAP2', 'score': 0.44}, {'connected_gene': 'GC13P021491', 'score': 0.29}, {'connected_gene': 'MICU2', 'score': 0.18}]
chr13 GH13I021635 21635676 21638736 1 [{'connected_gene': 'FGF9', 'score': 11.53}, {'connected_gene': 'MICU2', 'score': 5.21}, {'connected_gene': 'RPS7P10', 'score': 0.44}]
chr13 GH13I021583 21583371 21584102 0.74 [{'connected_gene': 'MICU2', 'score': 11.28}, {'connected_gene': 'ZDHHC20', 'score': 4.86}, {'connected_gene': 'GC13M021552', 'score': 0.29}, {'connected_gene': 'RNU6-59P', 'score': 0.29}]
chr13 GH13I021602 21602779 21605050 2.06 [{'connected_gene': 'MICU2', 'score': 557.7}, {'connected_gene': 'GC13M021552', 'score': 0.23}, {'connected_gene': 'RNU6-59P', 'score': 0.23}]
chr13 GH13I021595 21595006 21595921 0.2 [{'connected_gene': 'MICU2', 'score': 0.44}, {'connected_gene': 'GC13M021552', 'score': 0.26}, {'connected_gene': 'RNU6-59P', 'score': 0.26}]
chr13 GH13I021580 21580003 21581561 0.31 [{'connected_gene': 'MICU2', 'score': 7.18}, {'connected_gene': 'GC13M021552', 'score': 0.31}, {'connected_gene': 'RNU6-59P', 'score': 0.31}]
chr13 GH13I021561 21561257 21561544 0.26 [{'connected_gene': 'MICU2', 'score': 2.57}, {'connected_gene': 'GC13M021552', 'score': 0.44}, {'connected_gene': 'RNU6-59P', 'score': 0.44}]
chr13 GH13I022009 22009490 22009842 0.78 [{'connected_gene': 'MICU2', 'score': 1.95}, {'connected_gene': 'LINC00540', 'score': 0.29}, {'connected_gene': 'LINC00424', 'score': 0.12}]
chr13 GH13I021616 21616192 21617597 0.94 [{'connected_gene': 'MICU2', 'score': 9.18}, {'connected_gene': 'RPS7P10', 'score': 0.39}]
chr13 GH13I022060 22060251 22064348 1.39 [{'connected_gene': 'LOC105370108', 'score': 550.77}, {'connected_gene': 'MICU2', 'score': 1.2}, {'connected_gene': 'GC13P022068', 'score': 0.44}, {'connected_gene': 'LINC00540', 'score': 0.34}]
chr13 GH13I021588 21588502 21588651 0.31 [{'connected_gene': 'RNU6-59P', 'score': 11.11}, {'connected_gene': 'MICU2', 'score': 6.36}, {'connected_gene': 'GC13M021552', 'score': 0.28}]
chr13 GH13I021576 21576405 21576868 0.56 [{'connected_gene': 'GC13M021552', 'score': 0.31}, {'connected_gene': 'RNU6-59P', 'score': 0.31}, {'connected_gene': 'MICU2', 'score': 0.31}]