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
ENST00000534747 [[93063136, 93063258], [93065381, 93065454], [93088536, 93088708], [93090113, 93090209], [93097325, 93097460], [93103238, 93103352], [93104203, 93104446], [93118563, 93118709], [93122185, 93122291], [93127624, 93127822], [93129404, 93129491], [93141396, 93141593], [93148165, 93148280], [93170708, 93171634]] [[93065425, 93065454], [93088536, 93088708], [93090113, 93090209], [93097325, 93097460], [93103238, 93103352], [93104203, 93104446], [93118563, 93118709], [93122185, 93122291], [93127624, 93127822], [93129404, 93129491], [93141396, 93141593], [93148165, 93148280], [93170708, 93170882]]
ENST00000530862 [[93063155, 93063258], [93065381, 93065454], [93088536, 93088708], [93090113, 93090209], [93097325, 93097460], [93103238, 93103352], [93104203, 93104446], [93118563, 93118709], [93122185, 93122291], [93127624, 93127822], [93129404, 93129491], [93141396, 93141593], [93148165, 93148366]] [[93065425, 93065454], [93088536, 93088708], [93090113, 93090209], [93097325, 93097460], [93103238, 93103352], [93104203, 93104446], [93118563, 93118709], [93122185, 93122291], [93127624, 93127628]]
ENST00000531792 [[93063163, 93063407], [93065381, 93065454], [93088536, 93088708], [93090113, 93090209], [93097325, 93097460], [93103238, 93103352], [93104203, 93104446], [93118563, 93118709], [93122185, 93122291], [93127624, 93127822], [93129404, 93129533]] [[93065425, 93065454], [93088536, 93088708], [93090113, 93090209], [93097325, 93097460], [93103238, 93103352], [93104203, 93104446], [93118563, 93118709], [93122185, 93122291], [93127624, 93127628]]
ENST00000530053 [[93063164, 93063258], [93065381, 93065454], [93085468, 93085574], [93088536, 93088693]] None
ENST00000531448 [[93063767, 93063944], [93065381, 93065454], [93088536, 93088708], [93090113, 93090209], [93097325, 93097460], [93103238, 93103352], [93104203, 93104446], [93118563, 93118709], [93122185, 93122291], [93127624, 93127822], [93129404, 93129491], [93141396, 93141573], [93148165, 93148280], [93170708, 93171653]] [[93065425, 93065454], [93088536, 93088708], [93090113, 93090209], [93097325, 93097460], [93103238, 93103352], [93104203, 93104446], [93118563, 93118709], [93122185, 93122291], [93127624, 93127822], [93129404, 93129491], [93141396, 93141573], [93148165, 93148171]]
ENST00000530273 [[93063810, 93063938], [93065381, 93065454], [93085468, 93085677]] [[93065425, 93065454], [93085468, 93085601]]
ENST00000298050 [[93063882, 93063938], [93065381, 93065454], [93088536, 93088708], [93090113, 93090209], [93097325, 93097460], [93103238, 93103352], [93104203, 93104446], [93118563, 93118709], [93122185, 93122291], [93127624, 93127822], [93129404, 93129491], [93141396, 93141593], [93148165, 93148280], [93170708, 93171634]] [[93065425, 93065454], [93088536, 93088708], [93090113, 93090209], [93097325, 93097460], [93103238, 93103352], [93104203, 93104446], [93118563, 93118709], [93122185, 93122291], [93127624, 93127822], [93129404, 93129491], [93141396, 93141593], [93148165, 93148280], [93170708, 93170885]]
ENST00000532819 [[93065381, 93065454], [93088536, 93088708], [93090113, 93090209], [93097325, 93097460], [93103238, 93103352], [93104203, 93104446], [93118563, 93118709], [93122185, 93122237]] [[93065425, 93065454], [93088536, 93088708], [93090113, 93090209], [93097325, 93097460], [93103238, 93103352], [93104203, 93104446], [93118563, 93118709], [93122185, 93122237]]
ENST00000527307 [[93065387, 93065454], [93088536, 93088708], [93090113, 93090641]] [[93065425, 93065454], [93088536, 93088708], [93090113, 93090233]]
ENST00000525646 [[93116633, 93116776], [93118563, 93118709], [93122185, 93122291], [93127624, 93127822], [93129404, 93129491], [93141396, 93141593], [93148165, 93148280], [93170708, 93171636]] [[93116761, 93116776], [93118563, 93118709], [93122185, 93122291], [93127624, 93127822], [93129404, 93129491], [93141396, 93141593], [93148165, 93148280], [93170708, 93170885]]
ENST00000529909 [[93144224, 93144388], [93148165, 93148280], [93170708, 93170868]] [[93148199, 93148280], [93170708, 93170868]]
NM_181645 [[93063882, 93063938], [93065381, 93065454], [93088536, 93088708], [93090113, 93090209], [93097325, 93097460], [93103238, 93103352], [93104203, 93104446], [93118563, 93118709], [93122185, 93122291], [93127624, 93127822], [93129404, 93129491], [93141396, 93141593], [93148165, 93148280], [93170708, 93171636]] [[93065425, 93065454], [93088536, 93088708], [93090113, 93090209], [93097325, 93097460], [93103238, 93103352], [93104203, 93104446], [93118563, 93118709], [93122185, 93122291], [93127624, 93127822], [93129404, 93129491], [93141396, 93141593], [93148165, 93148280], [93170708, 93170885]]
Promoter
Chrom Start End Description
chr11 93063159 93063168 CAGE_peak_3_at_CCDC67_5end
chr11 93063768 93063802 CAGE_peak_2_at_CCDC67_5end
chr11 93063878 93063910 CAGE_peak_1_at_CCDC67_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I092915 92915618 92915726 0.27 [{'connected_gene': 'LOC642791', 'score': 558.52}, {'connected_gene': 'LOC105369431', 'score': 550.77}, {'connected_gene': 'DEUP1', 'score': 3.96}, {'connected_gene': 'GC11P092931', 'score': 0.37}]
chr11 GH11I093523 93523002 93527416 1.52 [{'connected_gene': 'SMCO4', 'score': 27.21}, {'connected_gene': 'SLC36A4', 'score': 5.31}, {'connected_gene': 'GPR83', 'score': 4.32}, {'connected_gene': 'DEUP1', 'score': 1.24}, {'connected_gene': 'MED17', 'score': 1.18}, {'connected_gene': 'SRP14P2', 'score': 0.39}, {'connected_gene': 'GC11M093639', 'score': 0.18}]
chr11 GH11I093330 93330400 93330801 1.8 [{'connected_gene': 'DEUP1', 'score': 559.03}, {'connected_gene': 'GC11M093448', 'score': 0.19}]

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