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
ENST00000482642 [[98605911, 98606452], [98621976, 98622159]] None
ENST00000460070 [[98605911, 98605970], [98621976, 98622084], [98628946, 98629040], [98634756, 98634837], [98637674, 98637876]] [[98622034, 98622084], [98628946, 98629040], [98634756, 98634837], [98637674, 98637876]]
ENST00000481455 [[98605928, 98605970], [98606356, 98606452], [98621976, 98622084], [98628946, 98629040], [98634756, 98634837], [98637674, 98637808]] [[98622034, 98622084], [98628946, 98629040], [98634756, 98634837], [98637674, 98637808]]
ENST00000261574 [[98605928, 98605970], [98606372, 98606452], [98621976, 98622084], [98628946, 98629040], [98634756, 98634837], [98637674, 98637867], [98641315, 98641418], [98642379, 98642476], [98642686, 98642791], [98645145, 98645268], [98645358, 98645479], [98649784, 98649872], [98652792, 98652899], [98654720, 98654845], [98654937, 98655027], [98655117, 98655291], [98658383, 98658602], [98660312, 98660396], [98662134, 98662267], [98662356, 98662478], [98664499, 98664596], [98666295, 98666468], [98667783, 98667895], [98667979, 98668035], [98668982, 98669105], [98670738, 98670958], [98671834, 98672063], [98673245, 98673387], [98673989, 98676551]] [[98622034, 98622084], [98628946, 98629040], [98634756, 98634837], [98637674, 98637867], [98641315, 98641418], [98642379, 98642476], [98642686, 98642791], [98645145, 98645268], [98645358, 98645479], [98649784, 98649872], [98652792, 98652899], [98654720, 98654845], [98654937, 98655027], [98655117, 98655291], [98658383, 98658602], [98660312, 98660396], [98662134, 98662267], [98662356, 98662478], [98664499, 98664596], [98666295, 98666468], [98667783, 98667895], [98667979, 98668035], [98668982, 98669105], [98670738, 98670958], [98671834, 98672063], [98673245, 98673387], [98673989, 98674076]]
ENST00000493281 [[98605936, 98605970], [98606372, 98606452], [98612600, 98612657], [98615413, 98615536], [98621976, 98622084], [98628946, 98629040], [98634756, 98634804]] [[98622034, 98622084], [98628946, 98629040], [98634756, 98634804]]
ENST00000490369 [[98605936, 98605970], [98606372, 98606452], [98621976, 98622084], [98628946, 98629040], [98633495, 98633654], [98634756, 98634823]] [[98622034, 98622084], [98628946, 98629040], [98633495, 98633543]]
ENST00000463157 [[98605936, 98605970], [98606372, 98606452], [98612600, 98612657], [98621976, 98622084], [98628946, 98629040], [98634756, 98634837], [98637674, 98637713]] [[98622034, 98622084], [98628946, 98629040], [98634756, 98634837], [98637674, 98637713]]
ENST00000471898 [[98605936, 98605970], [98606372, 98606452], [98621976, 98622084], [98628144, 98628251], [98628946, 98629040], [98634756, 98634837], [98637674, 98637726]] [[98628950, 98629040], [98634756, 98634837], [98637674, 98637726]]
ENST00000489058 [[98605947, 98606181], [98606372, 98606452], [98621976, 98622084], [98628946, 98629046]] [[98622034, 98622084], [98628946, 98629046]]
ENST00000481689 [[98605967, 98606181], [98621976, 98622084], [98628946, 98629040], [98634756, 98634837], [98637674, 98637745]] [[98606149, 98606181], [98621976, 98622084], [98628946, 98629040], [98634756, 98634837], [98637674, 98637745]]
ENST00000480611 [[98606179, 98606257], [98606349, 98606452], [98621976, 98622084], [98628946, 98629040], [98634756, 98634837], [98637674, 98637801]] [[98622034, 98622084], [98628946, 98629040], [98634756, 98634837], [98637674, 98637801]]
ENST00000485433 [[98606212, 98606452], [98621976, 98622084], [98628946, 98629040], [98634756, 98634838]] [[98622034, 98622084], [98628946, 98629040], [98634756, 98634838]]
ENST00000496368 [[98612445, 98612512], [98615413, 98615536], [98621976, 98622084], [98628946, 98629040], [98634756, 98634837], [98637674, 98637743]] [[98622034, 98622084], [98628946, 98629040], [98634756, 98634837], [98637674, 98637743]]
ENST00000421861 [[98612471, 98612657], [98621976, 98622084], [98628946, 98629040], [98634756, 98634837], [98637674, 98637769]] [[98622034, 98622084], [98628946, 98629040], [98634756, 98634837], [98637674, 98637769]]
ENST00000357602 [[98612502, 98612657], [98621976, 98622084], [98628144, 98628251], [98628946, 98629040], [98634756, 98634837], [98637674, 98637867], [98641315, 98641418], [98642379, 98642476], [98642686, 98642791], [98645145, 98645268], [98645358, 98645479], [98649784, 98649872], [98652792, 98652899], [98654720, 98654845], [98654937, 98655027], [98655117, 98655291], [98658383, 98658602], [98660312, 98660396], [98662134, 98662267], [98662356, 98662478], [98664499, 98664596], [98666295, 98666468], [98667783, 98667895], [98667979, 98668035], [98668982, 98669105], [98670738, 98670958], [98671834, 98672063], [98673245, 98673387], [98673989, 98674743]] [[98628950, 98629040], [98634756, 98634837], [98637674, 98637867], [98641315, 98641418], [98642379, 98642476], [98642686, 98642791], [98645145, 98645268], [98645358, 98645479], [98649784, 98649872], [98652792, 98652899], [98654720, 98654845], [98654937, 98655027], [98655117, 98655291], [98658383, 98658602], [98660312, 98660396], [98662134, 98662267], [98662356, 98662478], [98664499, 98664596], [98666295, 98666468], [98667783, 98667895], [98667979, 98668035], [98668982, 98669105], [98670738, 98670958], [98671834, 98672063], [98673245, 98673387], [98673989, 98674076]]
ENST00000475420 [[98627884, 98628251], [98628946, 98629040], [98634756, 98634837], [98637674, 98637867], [98641315, 98641418], [98642379, 98642424]] [[98628950, 98629040], [98634756, 98634837], [98637674, 98637867], [98641315, 98641418], [98642379, 98642424]]
ENST00000480641 [[98628718, 98628756], [98628946, 98629040], [98634308, 98634397], [98634756, 98634837], [98637674, 98637867], [98641315, 98641363]] [[98637683, 98637867], [98641315, 98641363]]
ENST00000490680 [[98628885, 98629040], [98634756, 98634837], [98637674, 98637867], [98641315, 98641418], [98642379, 98642476], [98642686, 98642791], [98645145, 98645268], [98645358, 98645479], [98649784, 98649872], [98652792, 98652899], [98654720, 98654845], [98654937, 98655027], [98655117, 98655291], [98658383, 98658602], [98660312, 98660396], [98662134, 98662267], [98662356, 98662478], [98664499, 98664596], [98666295, 98666468], [98667783, 98667895], [98667979, 98668035], [98668982, 98669105], [98670738, 98670958], [98671834, 98672063], [98673245, 98673387], [98673989, 98674136]] [[98628950, 98629040], [98634756, 98634837], [98637674, 98637867], [98641315, 98641418], [98642379, 98642476], [98642686, 98642791], [98645145, 98645268], [98645358, 98645479], [98649784, 98649872], [98652792, 98652899], [98654720, 98654845], [98654937, 98655027], [98655117, 98655291], [98658383, 98658602], [98660312, 98660396], [98662134, 98662267], [98662356, 98662478], [98664499, 98664596], [98666295, 98666468], [98667783, 98667895], [98667979, 98668035], [98668982, 98669105], [98670738, 98670958], [98671834, 98672063], [98673245, 98673387], [98673989, 98674076]]
ENST00000497270 [[98628928, 98629040], [98634756, 98634837], [98637674, 98637867], [98640243, 98640355], [98641315, 98641353]] [[98628950, 98629040], [98634756, 98634837], [98637674, 98637867], [98640243, 98640260]]
ENST00000539640 [[98628928, 98629040], [98634756, 98634837], [98637674, 98637774], [98642768, 98642791], [98645145, 98645268], [98645358, 98645479], [98649784, 98649872], [98652792, 98652899], [98654720, 98654845], [98654937, 98655027], [98655117, 98655291], [98658383, 98658602], [98660312, 98660396], [98662134, 98662267], [98662356, 98662478], [98664499, 98664596], [98666295, 98666468], [98667783, 98667895], [98667979, 98668035], [98668982, 98669105], [98670738, 98670958], [98671834, 98672063], [98673245, 98673387], [98673989, 98674131]] [[98628950, 98629040], [98634756, 98634837], [98637674, 98637774], [98642768, 98642791], [98645145, 98645268], [98645358, 98645479], [98649784, 98649872], [98652792, 98652899], [98654720, 98654845], [98654937, 98655027], [98655117, 98655291], [98658383, 98658602], [98660312, 98660396], [98662134, 98662267], [98662356, 98662478], [98664499, 98664596], [98666295, 98666468], [98667783, 98667895], [98667979, 98668035], [98668982, 98669105], [98670738, 98670958], [98671834, 98672063], [98673245, 98673387], [98673989, 98674076]]
ENST00000403772 [[98628956, 98629040], [98637674, 98637867], [98641315, 98641418], [98642379, 98642476], [98642686, 98642756]] [[98628956, 98629040], [98637674, 98637867], [98641315, 98641418], [98642379, 98642476], [98642686, 98642756]]
ENST00000469360 [[98629216, 98629311], [98634756, 98634837], [98637674, 98637867], [98641315, 98641418], [98642379, 98642476], [98642686, 98642791], [98645145, 98645268], [98645358, 98645479], [98649784, 98649872], [98652792, 98652899], [98654720, 98654845], [98654937, 98655027], [98655117, 98655291], [98658383, 98658602], [98660312, 98660396], [98662134, 98662267], [98662356, 98662478], [98664499, 98664596], [98666295, 98666468], [98667783, 98667895], [98667979, 98668035], [98668982, 98669105], [98670738, 98670958], [98671834, 98672063], [98673245, 98673387], [98673989, 98674282]] [[98629216, 98629311], [98634756, 98634837], [98637674, 98637867], [98641315, 98641418], [98642379, 98642476], [98642686, 98642791], [98645145, 98645268], [98645358, 98645479], [98649784, 98649872], [98652792, 98652899], [98654720, 98654845], [98654937, 98655027], [98655117, 98655291], [98658383, 98658602], [98660312, 98660396], [98662134, 98662267], [98662356, 98662478], [98664499, 98664596], [98666295, 98666468], [98667783, 98667895], [98667979, 98668035], [98668982, 98669105], [98670738, 98670958], [98671834, 98672063], [98673245, 98673387], [98673989, 98674076]]
ENST00000473582 [[98632123, 98632197], [98634756, 98634837], [98637674, 98637867], [98641315, 98641418], [98642379, 98642464]] [[98632164, 98632197], [98634756, 98634837], [98637674, 98637867], [98641315, 98641418], [98642379, 98642464]]
ENST00000470493 [[98645403, 98645479], [98649784, 98649872], [98652792, 98653176]] None
ENST00000491555 [[98653899, 98654845], [98654937, 98655027], [98655117, 98655291], [98658383, 98658602], [98660312, 98660396], [98662134, 98662267], [98662356, 98662478], [98664499, 98664596], [98666295, 98666468], [98667783, 98667895], [98667979, 98668035], [98668982, 98669105], [98670738, 98670958], [98671834, 98672063], [98673245, 98673387], [98673989, 98674757]] None
ENST00000479736 [[98654729, 98655027], [98655117, 98655291], [98658383, 98658579]] None
ENST00000493492 [[98655262, 98655291], [98658383, 98658602], [98659615, 98659841]] None
ENST00000468620 [[98670839, 98670958], [98671834, 98672195]] None
ENST00000493122 [[98671832, 98672063], [98673245, 98673665]] None
NM_002271 [[98605928, 98605970], [98606372, 98606452], [98621976, 98622084], [98628946, 98629040], [98634756, 98634837], [98637674, 98637867], [98641315, 98641418], [98642379, 98642476], [98642686, 98642791], [98645145, 98645268], [98645358, 98645479], [98649784, 98649872], [98652792, 98652899], [98654720, 98654845], [98654937, 98655027], [98655117, 98655291], [98658383, 98658602], [98660312, 98660396], [98662134, 98662267], [98662356, 98662478], [98664499, 98664596], [98666295, 98666468], [98667783, 98667895], [98667979, 98668035], [98668982, 98669105], [98670738, 98670958], [98671834, 98672063], [98673245, 98673387], [98673989, 98676550]] [[98622034, 98622084], [98628946, 98629040], [98634756, 98634837], [98637674, 98637867], [98641315, 98641418], [98642379, 98642476], [98642686, 98642791], [98645145, 98645268], [98645358, 98645479], [98649784, 98649872], [98652792, 98652899], [98654720, 98654845], [98654937, 98655027], [98655117, 98655291], [98658383, 98658602], [98660312, 98660396], [98662134, 98662267], [98662356, 98662478], [98664499, 98664596], [98666295, 98666468], [98667783, 98667895], [98667979, 98668035], [98668982, 98669105], [98670738, 98670958], [98671834, 98672063], [98673245, 98673387], [98673989, 98674076]]
Promoter
Chrom Start End Description
chr13 98605781 98605792 CAGE_peak_34_at_IPO5_5end
chr13 98605902 98605944 CAGE_peak_3_at_IPO5_5end
chr13 98612495 98612508 CAGE_peak_26_at_IPO5_5end
chr13 98628137 98628205 CAGE_peak_2_at_IPO5_5end
chr13 98628911 98628950 CAGE_peak_1_at_IPO5_5end
chr13 98670769 98670780 CAGE_peak_5_at_IPO5_5end
chr13 98670838 98670857 CAGE_peak_7_at_IPO5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I097575 97575275 97575443 0.53 [{'connected_gene': 'IPO5', 'score': 24.93}, {'connected_gene': 'PIR51420', 'score': 0.39}, {'connected_gene': 'GC13P097561', 'score': 0.39}, {'connected_gene': 'LOC105370324', 'score': 0.12}]
chr13 GH13I097975 97975081 97979215 1.97 [{'connected_gene': 'IPO5', 'score': 550.34}, {'connected_gene': 'FTLP8', 'score': 0.39}]
chr13 GH13I097953 97953317 97954213 0.93 [{'connected_gene': 'IPO5', 'score': 550.77}, {'connected_gene': 'ENSG00000270725', 'score': 0.39}, {'connected_gene': 'FTLP8', 'score': 0.29}]
chr13 GH13I097946 97946880 97948195 0.52 [{'connected_gene': 'IPO5', 'score': 0.44}, {'connected_gene': 'ENSG00000270725', 'score': 0.44}]
chr13 GH13I098004 98004207 98004376 0.43 [{'connected_gene': 'FTLP8', 'score': 0.37}, {'connected_gene': 'IPO5', 'score': 0.23}, {'connected_gene': 'FARP1', 'score': 0.12}]
chr13 GH13I098014 98014847 98015016 0.46 [{'connected_gene': 'FTLP8', 'score': 0.31}, {'connected_gene': 'IPO5', 'score': 0.21}, {'connected_gene': 'FARP1', 'score': 0.13}]
chr13 GH13I098021 98021618 98023013 0.2 [{'connected_gene': 'FTLP8', 'score': 0.28}, {'connected_gene': 'IPO5', 'score': 0.2}, {'connected_gene': 'FARP1', 'score': 0.13}]
chr13 GH13I097986 97986947 97987096 0.38 [{'connected_gene': 'FTLP8', 'score': 550.77}, {'connected_gene': 'IPO5', 'score': 0.29}]