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
ENST00000545472 [[185300506, 185300605], [185307901, 185307957], [185316199, 185316333], [185316745, 185316812], [185318552, 185318643], [185324117, 185324286], [185327034, 185327138], [185329438, 185329533], [185330394, 185330446], [185331132, 185331196], [185332351, 185332528], [185335267, 185335399], [185337086, 185337290], [185339613, 185339693], [185341785, 185341870], [185344085, 185344181], [185347569, 185347972]] [[185300534, 185300605], [185307901, 185307957], [185316199, 185316333], [185316745, 185316812], [185318552, 185318643], [185324117, 185324286], [185327034, 185327138], [185329438, 185329533], [185330394, 185330446], [185331132, 185331196], [185332351, 185332528], [185335267, 185335399], [185337086, 185337290], [185339613, 185339693], [185341785, 185341870], [185344085, 185344181], [185347569, 185347632]]
ENST00000296257 [[185303961, 185304302], [185307901, 185307957], [185316199, 185316333], [185316745, 185316812], [185318552, 185318643], [185324117, 185324286], [185327034, 185327138], [185329438, 185329533], [185330394, 185330446], [185331132, 185331196], [185332351, 185332528], [185335267, 185335399], [185337086, 185337290], [185339613, 185339693], [185341785, 185341870], [185344085, 185344181], [185347569, 185351339]] [[185304201, 185304302], [185307901, 185307957], [185316199, 185316333], [185316745, 185316812], [185318552, 185318643], [185324117, 185324286], [185327034, 185327138], [185329438, 185329533], [185330394, 185330446], [185331132, 185331196], [185332351, 185332528], [185335267, 185335399], [185337086, 185337290], [185339613, 185339693], [185341785, 185341870], [185344085, 185344181], [185347569, 185347632]]
ENST00000427465 [[185304082, 185304302], [185307901, 185307957], [185316199, 185316333], [185318552, 185318643], [185324117, 185324286], [185327034, 185327138], [185329438, 185329533], [185330394, 185330446], [185331132, 185331196], [185332351, 185332528], [185335267, 185335399], [185337086, 185337290], [185339613, 185339693], [185341785, 185341870], [185344085, 185344181], [185347569, 185348193]] [[185324196, 185324286], [185327034, 185327138], [185329438, 185329533], [185330394, 185330446], [185331132, 185331196], [185332351, 185332528], [185335267, 185335399], [185337086, 185337290], [185339613, 185339693], [185341785, 185341870], [185344085, 185344181], [185347569, 185347632]]
ENST00000413407 [[185304082, 185304302], [185307901, 185307957], [185316199, 185316333], [185318552, 185318643], [185324117, 185324286], [185327034, 185327138], [185329438, 185329533], [185330394, 185330446], [185331132, 185331196], [185332351, 185332528], [185335267, 185335399], [185337086, 185337290], [185339613, 185339693], [185341785, 185341870], [185344085, 185344181], [185347569, 185348193]] [[185304201, 185304302], [185307901, 185307957], [185316199, 185316333], [185318552, 185318576]]
ENST00000444509 [[185331142, 185331196], [185332351, 185332528], [185337086, 185337290], [185339613, 185339693], [185341785, 185341870], [185344085, 185344095]] [[185331142, 185331196], [185332351, 185332528], [185337086, 185337290], [185339613, 185339693], [185341785, 185341870], [185344085, 185344095]]
ENST00000483005 [[185332290, 185332528], [185335267, 185335399], [185337086, 185337307]] None
ENST00000430355 [[185300283, 185300605], [185307901, 185307957], [185316199, 185316333], [185316745, 185316812], [185318552, 185318643], [185324117, 185324286], [185327034, 185327073]] [[185300342, 185300605], [185307901, 185307957], [185316199, 185316333], [185316745, 185316812], [185318552, 185318643], [185324117, 185324286], [185327034, 185327073]]
ENST00000465201 [[185300571, 185300651], [185307901, 185307957], [185316199, 185316333], [185316745, 185316812], [185318552, 185318643], [185324117, 185324278]] None
ENST00000453532 [[185304028, 185304302], [185307901, 185307957], [185316199, 185316333], [185316779, 185316812], [185318552, 185318643], [185324117, 185324286], [185327034, 185327106]] [[185304201, 185304302], [185307901, 185307957], [185316199, 185316333], [185316779, 185316806]]
ENST00000439684 [[185304082, 185304302], [185307901, 185307957], [185316745, 185316812], [185318552, 185318643], [185324117, 185324279]] [[185304201, 185304302], [185307901, 185307957], [185316745, 185316771]]
ENST00000458551 [[185304085, 185304302], [185307901, 185307957], [185316181, 185316333], [185316745, 185316812], [185318552, 185318613]] [[185304201, 185304302], [185307901, 185307957], [185316181, 185316189]]
ENST00000473760 [[185316752, 185316812], [185318552, 185318643], [185324117, 185324286], [185327034, 185327138], [185329438, 185329533], [185330394, 185330446], [185331132, 185331299]] None
ENST00000459883 [[185326790, 185327138], [185329438, 185329533], [185330394, 185330446], [185331132, 185331162]] None
ENST00000478001 [[185329315, 185329533], [185330394, 185330446], [185331132, 185331196], [185332351, 185332528], [185335267, 185335297]] None
ENST00000476011 [[185330009, 185330446], [185331132, 185331432]] None
NM_021627 [[185304030, 185304302], [185307901, 185307957], [185316199, 185316333], [185316745, 185316812], [185318552, 185318643], [185324117, 185324286], [185327034, 185327138], [185329438, 185329533], [185330394, 185330446], [185331132, 185331196], [185332351, 185332528], [185335267, 185335399], [185337086, 185337290], [185339613, 185339693], [185341785, 185341870], [185344085, 185344181], [185347569, 185348889]] [[185304201, 185304302], [185307901, 185307957], [185316199, 185316333], [185316745, 185316812], [185318552, 185318643], [185324117, 185324286], [185327034, 185327138], [185329438, 185329533], [185330394, 185330446], [185331132, 185331196], [185332351, 185332528], [185335267, 185335399], [185337086, 185337290], [185339613, 185339693], [185341785, 185341870], [185344085, 185344181], [185347569, 185347632]]
Promoter
Chrom Start End Description
chr3 185300242 185300263 CAGE_peak_8_at_SENP2_5end
chr3 185300270 185300303 CAGE_peak_5_at_SENP2_5end
chr3 185300305 185300324 CAGE_peak_7_at_SENP2_5end
chr3 185300358 185300377 CAGE_peak_6_at_SENP2_5end
chr3 185300391 185300410 CAGE_peak_10_at_SENP2_5end
chr3 185303995 185304021 CAGE_peak_2_at_SENP2_5end
chr3 185304059 185304124 CAGE_peak_1_at_SENP2_5end
chr3 185304128 185304151 CAGE_peak_3_at_SENP2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I185536 185536741 185538637 1.42 [{'connected_gene': 'SENP2', 'score': 11.52}, {'connected_gene': 'TMEM41A', 'score': 11.34}, {'connected_gene': 'LIPH', 'score': 0.39}, {'connected_gene': 'LOC105374254', 'score': 0.28}]
chr3 GH03I185581 185581132 185584409 0.85 [{'connected_gene': 'SENP2', 'score': 550.77}, {'connected_gene': 'VPS8', 'score': 4.28}, {'connected_gene': 'RPL34P10', 'score': 0.34}]
chr3 GH03I185543 185543537 185548261 0.98 [{'connected_gene': 'SENP2', 'score': 11.91}, {'connected_gene': 'LIPH', 'score': 6.35}, {'connected_gene': 'LOC105374254', 'score': 0.25}]
chr3 GH03I185572 185572333 185572482 0.71 [{'connected_gene': 'SENP2', 'score': 0.39}, {'connected_gene': 'LIPH', 'score': 0.37}]
chr3 GH03I185575 185575015 185575801 1.26 [{'connected_gene': 'SENP2', 'score': 0.44}, {'connected_gene': 'LIPH', 'score': 0.34}]
chr3 GH03I185588 185588601 185588800 0.31 [{'connected_gene': 'SENP2', 'score': 0.44}, {'connected_gene': 'RPL34P10', 'score': 0.37}]
chr3 GH03I185584 185584654 185587349 2.25 [{'connected_gene': 'SENP2', 'score': 550.77}, {'connected_gene': 'RPL34P10', 'score': 0.34}]
chr3 GH03I185593 185593812 185596335 0.8 [{'connected_gene': 'VPS8', 'score': 4.2}, {'connected_gene': 'SENP2', 'score': 0.39}, {'connected_gene': 'RPL34P10', 'score': 0.39}]
chr3 GH03I185551 185551252 185559682 1.91 [{'connected_gene': 'LIPH', 'score': 556.72}, {'connected_gene': 'SENP2', 'score': 11.8}, {'connected_gene': 'TMEM41A', 'score': 11.71}, {'connected_gene': 'VPS8', 'score': 5.73}]
chr3 GH03I185561 185561201 185562400 0.83 [{'connected_gene': 'LIPH', 'score': 0.44}, {'connected_gene': 'SENP2', 'score': 0.34}]
chr3 GH03I185629 185629641 185630914 0.63 [{'connected_gene': 'PIR53085', 'score': 0.44}, {'connected_gene': 'RPL34P10', 'score': 0.34}, {'connected_gene': 'SENP2', 'score': 0.25}]

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