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
ENST00000264499 [[122745594, 122747148], [122749300, 122749424], [122749556, 122749660], [122749773, 122749883], [122754385, 122754550], [122756298, 122756438], [122760785, 122760851], [122765081, 122765156], [122766658, 122766851], [122768558, 122768661], [122769998, 122770083], [122774110, 122774241], [122775858, 122775975], [122776643, 122776716], [122780146, 122780333], [122782658, 122782834], [122784371, 122784434], [122789135, 122789201], [122791432, 122791652]] [[122747014, 122747148], [122749300, 122749424], [122749556, 122749660], [122749773, 122749883], [122754385, 122754550], [122756298, 122756438], [122760785, 122760851], [122765081, 122765156], [122766658, 122766851], [122768558, 122768661], [122769998, 122770083], [122774110, 122774241], [122775858, 122775975], [122776643, 122776716], [122780146, 122780333], [122782658, 122782834], [122784371, 122784434], [122789135, 122789201], [122791432, 122791468]]
ENST00000507814 [[122746078, 122746383], [122747002, 122747148], [122749300, 122749424], [122749556, 122749660], [122749773, 122749828]] [[122747014, 122747148], [122749300, 122749424], [122749556, 122749660], [122749773, 122749828]]
ENST00000506636 [[122748881, 122749424], [122749556, 122749660], [122749773, 122749883], [122754385, 122754550], [122756298, 122756438], [122760785, 122760851], [122765081, 122765156], [122766658, 122766851], [122768558, 122768661], [122769998, 122770083], [122774110, 122774241], [122775858, 122775975], [122776643, 122776716], [122780146, 122780333], [122782658, 122782834], [122784371, 122784434], [122789135, 122789201], [122791432, 122791605]] [[122749295, 122749424], [122749556, 122749660], [122749773, 122749883], [122754385, 122754550], [122756298, 122756438], [122760785, 122760851], [122765081, 122765156], [122766658, 122766851], [122768558, 122768661], [122769998, 122770083], [122774110, 122774241], [122775858, 122775975], [122776643, 122776716], [122780146, 122780333], [122782658, 122782834], [122784371, 122784434], [122789135, 122789201], [122791432, 122791468]]
ENST00000508536 [[122776584, 122776716], [122780146, 122780178]] None
ENST00000505692 [[122779757, 122780333], [122782658, 122782834]] None
ENST00000502444 [[122782448, 122782834], [122784371, 122784434], [122789135, 122789201], [122791432, 122791642]] None
NM_176824 [[122745483, 122747148], [122749300, 122749424], [122749556, 122749660], [122749773, 122749883], [122754385, 122754550], [122756298, 122756438], [122760785, 122760851], [122765081, 122765156], [122766658, 122766851], [122768558, 122768661], [122769998, 122770083], [122774110, 122774241], [122775858, 122775975], [122776643, 122776716], [122780146, 122780333], [122782658, 122782834], [122784371, 122784434], [122789135, 122789201], [122791432, 122791652]] [[122747014, 122747148], [122749300, 122749424], [122749556, 122749660], [122749773, 122749883], [122754385, 122754550], [122756298, 122756438], [122760785, 122760851], [122765081, 122765156], [122766658, 122766851], [122768558, 122768661], [122769998, 122770083], [122774110, 122774241], [122775858, 122775975], [122776643, 122776716], [122780146, 122780333], [122782658, 122782834], [122784371, 122784434], [122789135, 122789201], [122791432, 122791468]]
NM_018190 [[122748881, 122749424], [122749556, 122749660], [122749773, 122749883], [122754385, 122754550], [122756298, 122756438], [122760785, 122760851], [122765081, 122765156], [122766658, 122766851], [122768558, 122768661], [122769998, 122770083], [122774110, 122774241], [122775858, 122775975], [122776643, 122776716], [122780146, 122780333], [122782658, 122782834], [122784371, 122784434], [122789135, 122789201], [122791432, 122791652]] [[122749295, 122749424], [122749556, 122749660], [122749773, 122749883], [122754385, 122754550], [122756298, 122756438], [122760785, 122760851], [122765081, 122765156], [122766658, 122766851], [122768558, 122768661], [122769998, 122770083], [122774110, 122774241], [122775858, 122775975], [122776643, 122776716], [122780146, 122780333], [122782658, 122782834], [122784371, 122784434], [122789135, 122789201], [122791432, 122791468]]
Promoter
Chrom Start End Description
chr4 122791565 122791577 CAGE_peak_2_at_BBS7_5end
chr4 122791583 122791657 CAGE_peak_1_at_BBS7_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I121821 121821650 121824689 2.05 [{'connected_gene': 'CCNA2', 'score': 550.77}, {'connected_gene': 'EXOSC9', 'score': 40.56}, {'connected_gene': 'BBS7', 'score': 13.42}, {'connected_gene': 'ENSG00000237868', 'score': 9.69}]
chr4 GH04I122150 122150129 122153877 1.97 [{'connected_gene': 'KIAA1109', 'score': 571.54}, {'connected_gene': 'ENSG00000273007', 'score': 15.34}, {'connected_gene': 'BBS7', 'score': 14.49}, {'connected_gene': 'IL2', 'score': 6.29}, {'connected_gene': 'IL21', 'score': 1.13}, {'connected_gene': 'RN7SL335P', 'score': 0.21}]
chr4 GH04I122860 122860912 122864643 0.31 [{'connected_gene': 'KIAA1109', 'score': 15.82}, {'connected_gene': 'BBS7', 'score': 13.22}, {'connected_gene': 'FGF2', 'score': 11.87}, {'connected_gene': 'NUDT6', 'score': 10.14}, {'connected_gene': 'ENSG00000273007', 'score': 4.48}, {'connected_gene': 'RPS26P23', 'score': 0.34}]
chr4 GH04I122731 122731766 122734639 2.01 [{'connected_gene': 'CETN4P', 'score': 566.01}, {'connected_gene': 'BBS12', 'score': 550.29}, {'connected_gene': 'EXOSC9', 'score': 27.42}, {'connected_gene': 'SPATA5', 'score': 26.25}, {'connected_gene': 'KIAA1109', 'score': 12.33}, {'connected_gene': 'BBS7', 'score': 11.51}, {'connected_gene': 'ENSG00000273007', 'score': 10.98}, {'connected_gene': 'TRPC3', 'score': 10.08}, {'connected_gene': 'LOC727709', 'score': 0.44}]
chr4 GH04I121869 121869366 121871200 1.95 [{'connected_gene': 'BBS7', 'score': 563.07}, {'connected_gene': 'ENSG00000261501', 'score': 550.77}, {'connected_gene': 'CCNA2', 'score': 0.25}]
chr4 GH04I121739 121738766 121740478 0.66 [{'connected_gene': 'BBS7', 'score': 10.09}, {'connected_gene': 'EXOSC9', 'score': 4.46}, {'connected_gene': 'PP12613', 'score': 0.34}, {'connected_gene': 'ANXA5', 'score': 0.26}]
chr4 GH04I121779 121779076 121779969 0.63 [{'connected_gene': 'BBS7', 'score': 11.25}, {'connected_gene': 'TMEM155', 'score': 9.92}, {'connected_gene': 'EXOSC9', 'score': 9.49}]
chr4 GH04I121798 121798985 121802532 2.06 [{'connected_gene': 'EXOSC9', 'score': 570.14}, {'connected_gene': 'BBS7', 'score': 12.57}, {'connected_gene': 'TMEM155', 'score': 11.22}, {'connected_gene': 'PP12613', 'score': 11.2}, {'connected_gene': 'ENSG00000237868', 'score': 9.69}]
chr4 GH04I121788 121788921 121792217 1.15 [{'connected_gene': 'TMEM155', 'score': 24.1}, {'connected_gene': 'PP12613', 'score': 11.96}, {'connected_gene': 'CCNA2', 'score': 11.51}, {'connected_gene': 'BBS7', 'score': 11.38}, {'connected_gene': 'EXOSC9', 'score': 6.22}]
chr4 GH04I121794 121794559 121797022 1.15 [{'connected_gene': 'TMEM155', 'score': 11.68}, {'connected_gene': 'PP12613', 'score': 11.67}, {'connected_gene': 'CCNA2', 'score': 11.53}, {'connected_gene': 'BBS7', 'score': 11.43}, {'connected_gene': 'EXOSC9', 'score': 6.45}]
chr4 GH04I121783 121783353 121786954 1.07 [{'connected_gene': 'TMEM155', 'score': 12.48}, {'connected_gene': 'PP12613', 'score': 11.9}, {'connected_gene': 'BBS7', 'score': 11.28}, {'connected_gene': 'EXOSC9', 'score': 9.13}]

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