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
ENST00000466427 [[30978283, 30978567], [31008448, 31008494]] None
ENST00000326139 [[31003637, 31003740], [31008448, 31008551], [31008677, 31008785], [31009481, 31009579], [31010733, 31010831], [31011577, 31011710], [31013599, 31013753], [31014043, 31014104], [31014585, 31014655], [31015391, 31015483], [31016043, 31016173], [31016895, 31016937], [31018733, 31019143]] [[31003683, 31003740], [31008448, 31008551], [31008677, 31008785], [31009481, 31009579], [31010733, 31010831], [31011577, 31011710], [31013599, 31013753], [31014043, 31014104], [31014585, 31014655], [31015391, 31015483], [31016043, 31016173], [31016895, 31016937], [31018733, 31018859]]
ENST00000396227 [[31009147, 31009579], [31010733, 31010831], [31011577, 31011710], [31014043, 31014104], [31014585, 31014655], [31015391, 31015483], [31016043, 31016173], [31016895, 31016937], [31018733, 31019134]] [[31009405, 31009579], [31010733, 31010831], [31011577, 31011710], [31014043, 31014076]]
ENST00000409904 [[31009147, 31009579], [31010733, 31010831], [31011577, 31011710], [31013599, 31013753], [31014043, 31014104], [31014585, 31014655], [31015391, 31015483], [31016043, 31016173], [31016895, 31016937], [31018733, 31019134]] [[31009405, 31009579], [31010733, 31010831], [31011577, 31011710], [31013599, 31013753], [31014043, 31014104], [31014585, 31014655], [31015391, 31015483], [31016043, 31016173], [31016895, 31016937], [31018733, 31018859]]
ENST00000409316 [[31009147, 31009305], [31009481, 31009579], [31010733, 31010831], [31011577, 31011710], [31014043, 31014104], [31014585, 31014655], [31015391, 31015483], [31016043, 31016173], [31016895, 31016937], [31018733, 31019143]] [[31011660, 31011710], [31014043, 31014104], [31014585, 31014655], [31015391, 31015483], [31016043, 31016173], [31016895, 31016937], [31018733, 31018744]]
ENST00000337750 [[31009147, 31009579], [31014043, 31014104], [31014585, 31014655], [31015391, 31015483], [31016043, 31016173], [31016895, 31016937], [31018733, 31019147]] [[31009405, 31009579], [31014043, 31014076]]
ENST00000489974 [[31010594, 31010831], [31011577, 31011710], [31013599, 31013753]] None
ENST00000461424 [[31011583, 31011756], [31013599, 31013753], [31014043, 31014104], [31014585, 31014655], [31015391, 31015483], [31016043, 31016173], [31023183, 31023235], [31023784, 31023974], [31024699, 31024831]] None
ENST00000461390 [[31011645, 31011710], [31013599, 31013753], [31014043, 31014104], [31014585, 31014655], [31015391, 31015592]] None
ENST00000463164 [[31016043, 31016173], [31018733, 31019146]] None
ENST00000473133 [[31023695, 31023974], [31032787, 31032869]] None
NM_000823 [[31003635, 31003740], [31008448, 31008551], [31008677, 31008785], [31009481, 31009579], [31010733, 31010831], [31011577, 31011710], [31013599, 31013753], [31014043, 31014104], [31014585, 31014655], [31015391, 31015483], [31016043, 31016173], [31016895, 31016937], [31018733, 31019146]] [[31003683, 31003740], [31008448, 31008551], [31008677, 31008785], [31009481, 31009579], [31010733, 31010831], [31011577, 31011710], [31013599, 31013753], [31014043, 31014104], [31014585, 31014655], [31015391, 31015483], [31016043, 31016173], [31016895, 31016937], [31018733, 31018859]]
Promoter
Chrom Start End Description
chr7 31003560 31003576 CAGE_peak_5_at_GHRHR_5end
chr7 31003580 31003589 CAGE_peak_6_at_GHRHR_5end
chr7 31003593 31003614 CAGE_peak_2_at_GHRHR_5end
chr7 31003621 31003641 CAGE_peak_3_at_GHRHR_5end
chr7 31009189 31009197 CAGE_peak_11_at_GHRHR_5end
chr7 31010569 31010576 CAGE_peak_9_at_GHRHR_5end
chr7 31010582 31010601 CAGE_peak_4_at_GHRHR_5end
chr7 31023427 31023491 CAGE_peak_1_at_GHRHR_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I030910 30910130 30916926 2.14 [{'connected_gene': 'AQP1', 'score': 552.49}, {'connected_gene': 'GHRHR', 'score': 12.66}, {'connected_gene': 'ENSG00000250424', 'score': 11.44}, {'connected_gene': 'MINDY4', 'score': 11.34}]
chr7 GH07I030919 30919747 30922230 1.72 [{'connected_gene': 'AQP1', 'score': 550.44}, {'connected_gene': 'ENSG00000226874', 'score': 16.97}, {'connected_gene': 'ENSG00000263683', 'score': 12.76}, {'connected_gene': 'GHRHR', 'score': 0.37}, {'connected_gene': 'ENSG00000250424', 'score': 0.2}]
chr7 GH07I030917 30917974 30919643 0.43 [{'connected_gene': 'AQP1', 'score': 0.44}, {'connected_gene': 'GHRHR', 'score': 0.37}, {'connected_gene': 'ENSG00000250424', 'score': 0.2}]
chr7 GH07I030929 30929632 30930163 0.2 [{'connected_gene': 'GHRHR', 'score': 0.44}, {'connected_gene': 'AQP1', 'score': 0.37}]
chr7 GH07I030936 30936507 30939163 1.21 [{'connected_gene': 'GHRHR', 'score': 550.77}, {'connected_gene': 'AQP1', 'score': 0.31}]
chr7 GH07I030935 30935175 30935999 0.38 [{'connected_gene': 'GHRHR', 'score': 0.77}, {'connected_gene': 'AQP1', 'score': 0.34}]
chr7 GH07I030963 30963904 30963963 0.5 [{'connected_gene': 'GHRHR', 'score': 550.31}, {'connected_gene': 'ADCYAP1R1', 'score': 10.92}, {'connected_gene': 'LOC105375222', 'score': 0.37}]
chr7 GH07I030930 30930583 30933311 0.72 [{'connected_gene': 'ADCYAP1R1', 'score': 4.75}, {'connected_gene': 'GHRHR', 'score': 0.44}, {'connected_gene': 'AQP1', 'score': 0.34}]
chr7 GH07I030988 30988121 30989264 1.18 [{'connected_gene': 'ADCYAP1R1', 'score': 6.44}, {'connected_gene': 'LOC105375222', 'score': 0.77}, {'connected_gene': 'LOC105375221', 'score': 0.39}, {'connected_gene': 'GHRHR', 'score': 0.23}]
chr7 GH07I030974 30974866 30975095 0.83 [{'connected_gene': 'LOC105375222', 'score': 0.44}, {'connected_gene': 'GHRHR', 'score': 0.28}]
chr7 GH07I030983 30983686 30983855 0.71 [{'connected_gene': 'LOC105375222', 'score': 550.77}, {'connected_gene': 'GHRHR', 'score': 0.25}]
chr7 GH07I030985 30984452 30985475 0.38 [{'connected_gene': 'LOC105375222', 'score': 550.77}, {'connected_gene': 'ADCYAP1R1', 'score': 4.57}, {'connected_gene': 'LOC105375221', 'score': 0.37}, {'connected_gene': 'GHRHR', 'score': 0.25}]
chr7 GH07I030984 30984316 30984375 0.31 [{'connected_gene': 'LOC105375222', 'score': 550.77}, {'connected_gene': 'LOC105375221', 'score': 0.37}, {'connected_gene': 'GHRHR', 'score': 0.25}]
chr7 GH07I030925 30925101 30926746 0.46 [{'connected_gene': 'ENSG00000229263', 'score': 11.01}, {'connected_gene': 'GHRHR', 'score': 0.39}, {'connected_gene': 'AQP1', 'score': 0.39}]

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