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
ENST00000354775 [[165631452, 165632381], [165634254, 165634367], [165636545, 165636687], [165638162, 165638250], [165638498, 165638687], [165648678, 165648819], [165649723, 165649920], [165651343, 165651478], [165652217, 165652347], [165664488, 165664634], [165667614, 165668100]] [[165632286, 165632381], [165634254, 165634367], [165636545, 165636687], [165638162, 165638250], [165638498, 165638687], [165648678, 165648819], [165649723, 165649920], [165651343, 165651478], [165652217, 165652347], [165664488, 165664634], [165667614, 165667795]]
ENST00000463610 [[165632011, 165632381], [165634254, 165634443]] None
ENST00000538148 [[165632047, 165632381], [165634254, 165634367], [165636545, 165636687], [165638162, 165638250], [165638498, 165638687], [165648678, 165648819], [165649723, 165649920], [165651343, 165651478], [165652217, 165652347], [165664488, 165664634], [165667486, 165667545]] [[165632286, 165632381], [165634254, 165634367], [165636545, 165636687], [165638162, 165638250], [165638498, 165638687], [165648678, 165648819], [165649723, 165649920], [165651343, 165651478], [165652217, 165652347], [165664488, 165664533]]
ENST00000491436 [[165637910, 165638250], [165638498, 165638687], [165648678, 165648819], [165649723, 165649872]] None
ENST00000461664 [[165649723, 165649920], [165651343, 165651478], [165652217, 165652347], [165664488, 165664634], [165667486, 165667777]] None
ENST00000471457 [[165652061, 165652347], [165664488, 165664634], [165667614, 165667750]] None
NM_000696 [[165631448, 165632381], [165634254, 165634367], [165636545, 165636687], [165638162, 165638250], [165638498, 165638687], [165648678, 165648819], [165649723, 165649920], [165651343, 165651478], [165652217, 165652347], [165664488, 165664634], [165667614, 165667900]] [[165632286, 165632381], [165634254, 165634367], [165636545, 165636687], [165638162, 165638250], [165638498, 165638687], [165648678, 165648819], [165649723, 165649920], [165651343, 165651478], [165652217, 165652347], [165664488, 165664634], [165667614, 165667795]]
Promoter
Chrom Start End Description
chr1 165667743 165667755 CAGE_peak_3_at_ALDH9A1_5end
chr1 165667789 165667808 CAGE_peak_1_at_ALDH9A1_5end
chr1 165667812 165667841 CAGE_peak_2_at_ALDH9A1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I165629 165629812 165634437 2.3 [{'connected_gene': 'MGST3', 'score': 593.92}, {'connected_gene': 'LOC284685', 'score': 50.62}, {'connected_gene': 'LRRC52', 'score': 11.84}, {'connected_gene': 'ALDH9A1', 'score': 5.89}, {'connected_gene': 'GC01M165662', 'score': 0.29}, {'connected_gene': 'ENSG00000206990', 'score': 0.29}]
chr1 GH01I165634 165634602 165635400 0.69 [{'connected_gene': 'MGST3', 'score': 7.92}, {'connected_gene': 'ALDH9A1', 'score': 6.12}, {'connected_gene': 'GC01M165662', 'score': 0.31}, {'connected_gene': 'ENSG00000206990', 'score': 0.31}]
chr1 GH01I165705 165705537 165705846 0.26 [{'connected_gene': 'MGST3', 'score': 11.88}, {'connected_gene': 'LOC105371581', 'score': 0.77}, {'connected_gene': 'LOC440700', 'score': 0.44}, {'connected_gene': 'ALDH9A1', 'score': 0.44}]
chr1 GH01I165695 165695564 165699265 2.05 [{'connected_gene': 'ALDH9A1', 'score': 582.54}, {'connected_gene': 'LOC440700', 'score': 550.77}, {'connected_gene': 'LOC284685', 'score': 23.64}, {'connected_gene': 'MGST3', 'score': 11.86}, {'connected_gene': 'UCK2', 'score': 9.99}, {'connected_gene': 'GC01M165672', 'score': 0.37}]
chr1 GH01I165685 165685725 165687566 0.6 [{'connected_gene': 'ALDH9A1', 'score': 19.88}, {'connected_gene': 'MGST3', 'score': 11.38}, {'connected_gene': 'GC01M165672', 'score': 0.44}, {'connected_gene': 'LOC440700', 'score': 0.39}]
chr1 GH01I165666 165666401 165666800 0.38 [{'connected_gene': 'ALDH9A1', 'score': 11.31}, {'connected_gene': 'RPS13P1', 'score': 0.77}, {'connected_gene': 'GC01M165662', 'score': 0.77}, {'connected_gene': 'ENSG00000206990', 'score': 0.77}]
chr1 GH01I166489 166488692 166491205 1.48 [{'connected_gene': 'LINC01675', 'score': 550.77}, {'connected_gene': 'LOC284685', 'score': 15.52}, {'connected_gene': 'UCK2', 'score': 9.9}, {'connected_gene': 'ALDH9A1', 'score': 5.36}, {'connected_gene': 'FMO7P', 'score': 0.37}]
chr1 GH01I165767 165767640 165770435 2.09 [{'connected_gene': 'LOC100147773', 'score': 562.79}, {'connected_gene': 'TMCO1', 'score': 550.22}, {'connected_gene': 'LOC284685', 'score': 21.35}, {'connected_gene': 'ALDH9A1', 'score': 18.17}, {'connected_gene': 'GC01P165777', 'score': 0.44}]
chr1 GH01I165670 165670801 165672026 0.2 [{'connected_gene': 'RPS13P1', 'score': 550.77}, {'connected_gene': 'MGST3', 'score': 16.07}, {'connected_gene': 'RPL21P27', 'score': 0.77}, {'connected_gene': 'ALDH9A1', 'score': 0.31}]