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
ENST00000475665 [[49895420, 49897314], [49897603, 49897691], [49897903, 49897982], [49898148, 49898285], [49898375, 49898733], [49898871, 49899010], [49899223, 49899298], [49899477, 49899609], [49899726, 49899835], [49907190, 49907336]] None
ENST00000296471 [[49895421, 49897314], [49897603, 49897691], [49897903, 49897982], [49898148, 49898277], [49898612, 49898733], [49898871, 49899010], [49899223, 49899298], [49899477, 49899609], [49899726, 49899835], [49907190, 49907338]] [[49896750, 49897314], [49897603, 49897691], [49897903, 49897982], [49898148, 49898277], [49898612, 49898733], [49898871, 49899010], [49899223, 49899298], [49899477, 49899609], [49899726, 49899821]]
ENST00000488336 [[49895421, 49897109], [49897202, 49897314], [49897603, 49897691], [49897903, 49897982], [49898148, 49898285], [49898375, 49898451], [49898612, 49898733], [49898871, 49899010], [49899223, 49899298], [49899477, 49899609], [49899726, 49899835], [49907190, 49907339]] [[49896750, 49897109], [49897202, 49897314], [49897603, 49897691], [49897903, 49897982], [49898148, 49898285], [49898375, 49898451], [49898612, 49898733], [49898871, 49899010], [49899223, 49899298], [49899477, 49899609], [49899726, 49899821]]
ENST00000463537 [[49895421, 49897109], [49897603, 49897691], [49897903, 49897982], [49898148, 49898285], [49898375, 49898451], [49898612, 49898733], [49898871, 49899010], [49899223, 49899298], [49899477, 49899609], [49899726, 49899835], [49907190, 49907364]] [[49896746, 49897109], [49897603, 49897691], [49897903, 49897982], [49898148, 49898285], [49898375, 49898451], [49898612, 49898733], [49898871, 49899010], [49899223, 49899298], [49899477, 49899609], [49899726, 49899821]]
ENST00000477224 [[49895421, 49897314], [49897603, 49897691], [49897903, 49897982], [49898148, 49898285], [49898375, 49898451], [49898612, 49898733], [49898871, 49899010], [49899223, 49899298], [49899477, 49899609], [49899726, 49899835], [49907190, 49907655]] [[49896750, 49897314], [49897603, 49897691], [49897903, 49897982], [49898148, 49898285], [49898375, 49898451], [49898612, 49898733], [49898871, 49899010], [49899223, 49899298], [49899477, 49899609], [49899726, 49899821]]
ENST00000487726 [[49896693, 49897109], [49897202, 49897314], [49897603, 49897691], [49897903, 49897982], [49898148, 49898285], [49898375, 49898451], [49898612, 49898733], [49898871, 49899010], [49899223, 49899298], [49899518, 49899609], [49899726, 49899835], [49907190, 49907336]] [[49898986, 49899010], [49899223, 49899298], [49899518, 49899609], [49899726, 49899821]]
ENST00000467248 [[49896693, 49897314], [49897603, 49897691], [49897903, 49897982], [49898148, 49898285], [49898375, 49898451], [49898612, 49898733], [49898871, 49899010], [49899223, 49899298], [49899477, 49899609], [49899764, 49899835], [49907190, 49907339]] [[49896750, 49897314], [49897603, 49897691], [49897903, 49897982], [49898148, 49898285], [49898375, 49898451], [49898612, 49898733], [49898871, 49899010], [49899223, 49899298], [49899477, 49899479]]
ENST00000466940 [[49896725, 49897109], [49897202, 49897314], [49897603, 49897691], [49897903, 49897982], [49898148, 49898285], [49898375, 49898451], [49898612, 49898733], [49898871, 49898881], [49899223, 49899298], [49899477, 49899609], [49899726, 49899835], [49907190, 49907342]] [[49896750, 49897109], [49897202, 49897314], [49897603, 49897691], [49897903, 49897982], [49898148, 49898285], [49898375, 49898451], [49898612, 49898733], [49898871, 49898881], [49899223, 49899298], [49899477, 49899609], [49899726, 49899821]]
ENST00000478149 [[49897201, 49897314], [49897603, 49897691], [49897903, 49897982], [49898148, 49898457]] None
ENST00000466535 [[49897632, 49897691], [49897903, 49897982], [49898148, 49898285], [49898375, 49898451], [49898612, 49898733], [49898871, 49898970], [49899223, 49899298], [49899477, 49899609], [49899726, 49899835], [49907190, 49907338]] [[49898702, 49898733], [49898871, 49898970], [49899223, 49899298], [49899477, 49899609], [49899726, 49899821]]
ENST00000483811 [[49897926, 49897982], [49898148, 49898285], [49898375, 49898451], [49898612, 49898733], [49898871, 49899298], [49899477, 49899609], [49899726, 49899839]] None
ENST00000480398 [[49898375, 49898451], [49898620, 49898733], [49898871, 49898994], [49899764, 49899835], [49907190, 49907368]] [[49898375, 49898451], [49898620, 49898733], [49898871, 49898994], [49899764, 49899821]]
ENST00000472895 [[49898391, 49898733], [49898871, 49899298], [49899477, 49899609], [49899726, 49899839]] None
ENST00000479704 [[49898562, 49898733], [49898871, 49898994], [49899764, 49899835], [49907190, 49907338]] None
ENST00000498324 [[49898896, 49899010], [49899223, 49899298], [49899477, 49899609], [49899706, 49899835], [49907190, 49907338]] None
ENST00000476105 [[49899221, 49899298], [49899477, 49899835], [49907190, 49907338]] None
NM_024046 [[49895413, 49897314], [49897603, 49897691], [49897903, 49897982], [49898148, 49898285], [49898375, 49898451], [49898612, 49898733], [49898871, 49899010], [49899223, 49899298], [49899477, 49899609], [49899726, 49899835], [49907190, 49907655]] [[49896750, 49897314], [49897603, 49897691], [49897903, 49897982], [49898148, 49898285], [49898375, 49898451], [49898612, 49898733], [49898871, 49899010], [49899223, 49899298], [49899477, 49899609], [49899726, 49899821]]
NM_001320147 [[49895413, 49897109], [49897202, 49897314], [49897603, 49897691], [49897903, 49897982], [49898148, 49898285], [49898375, 49898451], [49898612, 49898733], [49898871, 49899010], [49899223, 49899298], [49899477, 49899609], [49899726, 49899835], [49907190, 49907655]] [[49896750, 49897109], [49897202, 49897314], [49897603, 49897691], [49897903, 49897982], [49898148, 49898285], [49898375, 49898451], [49898612, 49898733], [49898871, 49899010], [49899223, 49899298], [49899477, 49899609], [49899726, 49899821]]
Promoter
Chrom Start End Description
chr3 49907323 49907374 CAGE_peak_1_at_CAMKV_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I049869 49868148 49868297 0.57 [{'connected_gene': 'CAMKV', 'score': 550.77}, {'connected_gene': 'ENSG00000230698', 'score': 12.73}, {'connected_gene': 'MST1R', 'score': 12.71}, {'connected_gene': 'ENSG00000228008', 'score': 12.71}, {'connected_gene': 'IP6K1', 'score': 11.34}, {'connected_gene': 'PHF5EP', 'score': 11.32}, {'connected_gene': 'RN7SL217P', 'score': 0.77}, {'connected_gene': 'GC03P049762', 'score': 0.14}, {'connected_gene': 'GC03P049763', 'score': 0.14}, {'connected_gene': 'GC03P049421', 'score': 0.05}]
chr3 GH03I049868 49868401 49870391 1.44 [{'connected_gene': 'CAMKV', 'score': 550.77}, {'connected_gene': 'RBM6', 'score': 41.03}, {'connected_gene': 'ENSG00000230698', 'score': 12.74}, {'connected_gene': 'MST1R', 'score': 12.73}, {'connected_gene': 'ENSG00000228008', 'score': 12.73}, {'connected_gene': 'IP6K1', 'score': 11.34}, {'connected_gene': 'PHF5EP', 'score': 11.32}, {'connected_gene': 'RN7SL217P', 'score': 0.44}, {'connected_gene': 'GC03P049762', 'score': 0.14}, {'connected_gene': 'GC03P049763', 'score': 0.14}, {'connected_gene': 'GC03P049421', 'score': 0.05}]
chr3 GH03I049872 49872028 49874434 1.02 [{'connected_gene': 'RBM6', 'score': 42.74}, {'connected_gene': 'ZMYND10', 'score': 11.19}, {'connected_gene': 'GNAI2', 'score': 2.89}, {'connected_gene': 'HYAL3', 'score': 1.61}, {'connected_gene': 'NAT6', 'score': 1.6}, {'connected_gene': 'ACTBP13', 'score': 0.77}, {'connected_gene': 'CAMKV', 'score': 0.77}, {'connected_gene': 'GC03P049762', 'score': 0.14}, {'connected_gene': 'GC03P049763', 'score': 0.14}, {'connected_gene': 'GC03P049421', 'score': 0.05}]
chr3 GH03I049867 49867868 49868077 0.63 [{'connected_gene': 'ENSG00000230698', 'score': 12.73}, {'connected_gene': 'MST1R', 'score': 12.71}, {'connected_gene': 'ENSG00000228008', 'score': 12.71}, {'connected_gene': 'IP6K1', 'score': 11.34}, {'connected_gene': 'PHF5EP', 'score': 11.32}, {'connected_gene': 'RN7SL217P', 'score': 0.77}, {'connected_gene': 'CAMKV', 'score': 0.77}, {'connected_gene': 'GC03P049762', 'score': 0.14}, {'connected_gene': 'GC03P049763', 'score': 0.14}, {'connected_gene': 'GC03P049421', 'score': 0.05}]