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
ENST00000448328 [[6811755, 6811805], [6870317, 6870391], [7188138, 7188355], [7340370, 7340512], [7348184, 7348296]] [[7188243, 7188355], [7340370, 7340512], [7348184, 7348296]]
ENST00000467425 [[6902801, 6903594], [7188138, 7188355], [7340370, 7340512], [7348184, 7348339], [7456709, 7456850], [7494293, 7494494], [7503269, 7503409], [7620108, 7621044], [7721735, 7721982], [7728043, 7728135], [7732725, 7732793], [7732896, 7733015], [7735319, 7735357]] [[6903075, 6903594], [7188138, 7188355], [7340370, 7340512], [7348184, 7348339], [7456709, 7456850], [7494293, 7494494], [7503269, 7503409], [7620108, 7621044], [7721735, 7721982], [7728043, 7728114]]
ENST00000357716 [[6902801, 6903594], [7188138, 7188355], [7340370, 7340512], [7348184, 7348339], [7456709, 7456850], [7494293, 7494494], [7503269, 7503409], [7620108, 7621044], [7721735, 7721982], [7782043, 7783198]] [[6903075, 6903594], [7188138, 7188355], [7340370, 7340512], [7348184, 7348339], [7456709, 7456850], [7494293, 7494494], [7503269, 7503409], [7620108, 7621044], [7721735, 7721982], [7782043, 7782093]]
ENST00000486284 [[6902801, 6903594], [7188138, 7188355], [7340370, 7340512], [7348184, 7348339], [7456709, 7456850], [7494293, 7494494], [7503269, 7503409], [7620108, 7621044], [7721735, 7721982], [7728043, 7728135], [7782043, 7783215]] [[6903075, 6903594], [7188138, 7188355], [7340370, 7340512], [7348184, 7348339], [7456709, 7456850], [7494293, 7494494], [7503269, 7503409], [7620108, 7621044], [7721735, 7721982], [7728043, 7728114]]
ENST00000389335 [[6902926, 6903594], [7188138, 7188355], [7340370, 7340512], [7348184, 7348339], [7456709, 7456850], [7494293, 7494494], [7503269, 7503409], [7620108, 7621044], [7721735, 7721982], [7732896, 7733015], [7735319, 7735373]] [[6903075, 6903594], [7188138, 7188355], [7340370, 7340512], [7348184, 7348339], [7456709, 7456850], [7494293, 7494494], [7503269, 7503409], [7620108, 7621044], [7721735, 7721982], [7732896, 7732934]]
ENST00000440923 [[6902926, 6903594], [7188138, 7188355], [7340370, 7340512], [7348184, 7348339], [7456709, 7456850], [7494293, 7494494], [7503269, 7503409], [7620108, 7621044], [7721735, 7721982], [7732725, 7732793], [7732896, 7733015], [7735319, 7735373]] [[6903075, 6903594], [7188138, 7188355], [7340370, 7340512], [7348184, 7348339], [7456709, 7456850], [7494293, 7494494], [7503269, 7503409], [7620108, 7621044], [7721735, 7721982], [7732725, 7732769]]
ENST00000389336 [[6902926, 6903594], [7188138, 7188355], [7340370, 7340512], [7348184, 7348339], [7456709, 7456850], [7494293, 7494494], [7503269, 7503409], [7620108, 7621044], [7721735, 7721982], [7735319, 7735373]] [[6903075, 6903594], [7188138, 7188355], [7340370, 7340512], [7348184, 7348339], [7456709, 7456850], [7494293, 7494494], [7503269, 7503409], [7620108, 7621044], [7721735, 7721982], [7735319, 7735342]]
ENST00000402647 [[6903075, 6903594], [7188138, 7188355], [7340370, 7340512], [7348184, 7348339], [7456709, 7456850], [7494293, 7494494], [7503269, 7503409], [7620108, 7621044], [7721735, 7721982], [7728043, 7728114]] [[6903075, 6903594], [7188138, 7188355], [7340370, 7340512], [7348184, 7348339], [7456709, 7456850], [7494293, 7494494], [7503269, 7503409], [7620108, 7621044], [7721735, 7721982], [7728043, 7728114]]
ENST00000403881 [[6903075, 6903594], [7188138, 7188355], [7340370, 7340512], [7348184, 7348339], [7456709, 7456850], [7494293, 7494494], [7503269, 7503409], [7620108, 7621044], [7721735, 7721982], [7732896, 7732934]] [[6903075, 6903594], [7188138, 7188355], [7340370, 7340512], [7348184, 7348339], [7456709, 7456850], [7494293, 7494494], [7503269, 7503409], [7620108, 7621044], [7721735, 7721982], [7732896, 7732934]]
ENST00000435689 [[6904429, 6904688], [6998253, 6998306], [7188138, 7188355], [7340370, 7340512], [7348184, 7348339]] [[6904667, 6904688], [6998253, 6998306], [7188138, 7188178]]
ENST00000443259 [[6811687, 6811805], [6828278, 6828373], [6870317, 6870391], [6925906, 6925993], [7188138, 7188343]] [[6811739, 6811805], [6828278, 6828373], [6870317, 6870363]]
ENST00000463676 [[7340369, 7340512], [7348184, 7348339], [7456709, 7456850], [7494293, 7494494], [7503269, 7503409], [7620108, 7621044], [7721735, 7724022]] None
ENST00000445087 [[7444736, 7444868], [7456709, 7456850], [7494293, 7494494], [7503269, 7503409], [7620108, 7620177]] [[7444864, 7444868], [7456709, 7456850], [7494293, 7494494], [7503269, 7503409], [7620108, 7620177]]
ENST00000458641 [[7493467, 7493506], [7494293, 7494494], [7503269, 7503409], [7600847, 7601030], [7603104, 7603260], [7620108, 7621044], [7649688, 7649781], [7677939, 7678128]] None
ENST00000461677 [[7340263, 7340512], [7348184, 7348339], [7456709, 7456851]] None
ENST00000471242 [[7735319, 7735383], [7736054, 7736150]] None
NM_000844 [[6902801, 6903594], [7188138, 7188355], [7340370, 7340512], [7348184, 7348339], [7456709, 7456850], [7494293, 7494494], [7503269, 7503409], [7620108, 7621044], [7721735, 7721982], [7782043, 7783218]] [[6903075, 6903594], [7188138, 7188355], [7340370, 7340512], [7348184, 7348339], [7456709, 7456850], [7494293, 7494494], [7503269, 7503409], [7620108, 7621044], [7721735, 7721982], [7782043, 7782093]]
NM_181874 [[6902801, 6903594], [7188138, 7188355], [7340370, 7340512], [7348184, 7348339], [7456709, 7456850], [7494293, 7494494], [7503269, 7503409], [7620108, 7621044], [7721735, 7721982], [7728043, 7728135], [7782043, 7783218]] [[6903075, 6903594], [7188138, 7188355], [7340370, 7340512], [7348184, 7348339], [7456709, 7456850], [7494293, 7494494], [7503269, 7503409], [7620108, 7621044], [7721735, 7721982], [7728043, 7728114]]
Promoter
Chrom Start End Description
chr3 6902794 6902808 CAGE_peak_1_at_GRM7_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I006860 6860097 6862681 1.02 [{'connected_gene': 'GRM7', 'score': 550.16}, {'connected_gene': 'GRM7-AS2', 'score': 11.64}, {'connected_gene': 'LOC105376945', 'score': 0.29}, {'connected_gene': 'GC03M006543', 'score': 0.22}]
chr3 GH03I006746 6746634 6746783 0.2 [{'connected_gene': 'GRM7', 'score': 0.34}, {'connected_gene': 'ENSG00000223719', 'score': 0.23}, {'connected_gene': 'GRM7-AS3', 'score': 0.22}, {'connected_gene': 'GC03M006543', 'score': 0.09}]
chr3 GH03I007205 7205645 7206266 0.72 [{'connected_gene': 'GRM7', 'score': 4.63}, {'connected_gene': 'GC03M006543', 'score': 0.06}, {'connected_gene': 'GC03M007443', 'score': 0.05}]
chr3 GH03I007305 7305628 7310706 0.72 [{'connected_gene': 'GRM7', 'score': 6.2}, {'connected_gene': 'GC03M007443', 'score': 0.07}, {'connected_gene': 'GC03M006543', 'score': 0.05}]
chr3 GH03I007271 7271581 7271880 0.2 [{'connected_gene': 'GRM7', 'score': 4.49}, {'connected_gene': 'GC03M007443', 'score': 0.06}, {'connected_gene': 'GC03M006543', 'score': 0.05}]
chr3 GH03I006716 6716766 6718210 0.77 [{'connected_gene': 'GRM7-AS3', 'score': 11.52}, {'connected_gene': 'ENSG00000223719', 'score': 0.31}, {'connected_gene': 'GRM7', 'score': 0.23}, {'connected_gene': 'GC03M006543', 'score': 0.08}, {'connected_gene': 'LOC105376944', 'score': 0.07}]
chr3 GH03I006806 6806791 6808944 0.57 [{'connected_gene': 'GRM7-AS3', 'score': 0.77}, {'connected_gene': 'LOC105376945', 'score': 0.34}, {'connected_gene': 'GRM7', 'score': 0.28}, {'connected_gene': 'GC03M006543', 'score': 0.14}]
chr3 GH03I006805 6805394 6805543 0.2 [{'connected_gene': 'GRM7-AS3', 'score': 550.77}, {'connected_gene': 'LOC105376945', 'score': 0.34}, {'connected_gene': 'GRM7', 'score': 0.28}, {'connected_gene': 'GC03M006543', 'score': 0.14}]
chr3 GH03I007512 7512243 7512605 0.22 [{'connected_gene': 'GRM7-AS1', 'score': 11.61}, {'connected_gene': 'GC03M007443', 'score': 0.29}, {'connected_gene': 'GC03M006543', 'score': 0.03}, {'connected_gene': 'GRM7', 'score': 0.02}]
chr3 GH03I007630 7630428 7631797 0.59 [{'connected_gene': 'GRM7-AS1', 'score': 11.12}, {'connected_gene': 'GC03P007641', 'score': 0.44}, {'connected_gene': 'ENSG00000270207', 'score': 0.34}, {'connected_gene': 'GRM7', 'score': 0.03}]
chr3 GH03I007595 7595889 7596272 0.22 [{'connected_gene': 'GRM7-AS1', 'score': 10.49}, {'connected_gene': 'ENSG00000270207', 'score': 0.39}, {'connected_gene': 'GRM7', 'score': 0.03}]
chr3 GH03I007508 7508614 7510000 0.31 [{'connected_gene': 'GRM7-AS1', 'score': 11.59}, {'connected_gene': 'GC03M007443', 'score': 0.29}, {'connected_gene': 'GC03M006543', 'score': 0.03}, {'connected_gene': 'GRM7', 'score': 0.03}]
chr3 GH03I007504 7504191 7507079 1.11 [{'connected_gene': 'GRM7-AS1', 'score': 11.59}, {'connected_gene': 'GC03M007443', 'score': 0.28}, {'connected_gene': 'GC03M006543', 'score': 0.03}, {'connected_gene': 'GRM7', 'score': 0.03}]
chr3 GH03I007682 7682499 7683745 0.63 [{'connected_gene': 'GRM7-AS1', 'score': 10.94}, {'connected_gene': 'GC03P007641', 'score': 0.26}, {'connected_gene': 'LOC101927394', 'score': 0.06}, {'connected_gene': 'GRM7', 'score': 0.03}]
chr3 GH03I006700 6700289 6700470 0.23 [{'connected_gene': 'ENSG00000223719', 'score': 0.44}, {'connected_gene': 'GRM7', 'score': 0.2}, {'connected_gene': 'GRM7-AS3', 'score': 0.14}, {'connected_gene': 'LOC105376944', 'score': 0.08}, {'connected_gene': 'GC03M006543', 'score': 0.08}]
chr3 GH03I007382 7382275 7383252 0.43 [{'connected_gene': 'GC03M007443', 'score': 0.1}, {'connected_gene': 'GC03M006543', 'score': 0.04}, {'connected_gene': 'GRM7', 'score': 0.03}]
chr3 GH03I007291 7290194 7290343 0.2 [{'connected_gene': 'GC03M007443', 'score': 0.07}, {'connected_gene': 'GC03M006543', 'score': 0.05}, {'connected_gene': 'GRM7', 'score': 0.03}]
chr3 GH03I007351 7351337 7351665 0.24 [{'connected_gene': 'GC03M007443', 'score': 0.08}, {'connected_gene': 'GC03M006543', 'score': 0.04}, {'connected_gene': 'GRM7', 'score': 0.03}]
chr3 GH03I007290 7290554 7290703 0.2 [{'connected_gene': 'GC03M007443', 'score': 0.07}, {'connected_gene': 'GC03M006543', 'score': 0.05}, {'connected_gene': 'GRM7', 'score': 0.03}]
chr3 GH03I007136 7136062 7136092 0.22 [{'connected_gene': 'GC03M006543', 'score': 0.08}, {'connected_gene': 'GRM7', 'score': 0.05}, {'connected_gene': 'GC03M007443', 'score': 0.05}]
chr3 GH03I007707 7707001 7707600 0.63 [{'connected_gene': 'GC03P007641', 'score': 0.2}, {'connected_gene': 'LOC101927394', 'score': 0.06}, {'connected_gene': 'GRM7', 'score': 0.02}]
chr3 GH03I007709 7709319 7710859 0.66 [{'connected_gene': 'GC03P007641', 'score': 0.2}, {'connected_gene': 'LOC101927394', 'score': 0.06}, {'connected_gene': 'GRM7', 'score': 0.02}]