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
ENST00000446632 [[3111232, 3111995], [3116465, 3116550], [3118214, 3118311], [3133907, 3134046], [3136982, 3137128], [3139553, 3139741], [3139820, 3139974], [3143375, 3143514], [3144358, 3144504], [3146586, 3146671], [3150233, 3150375], [3151628, 3152058]] [[3111908, 3111995], [3116465, 3116550], [3118214, 3118311], [3133907, 3134046], [3136982, 3137128], [3139553, 3139741], [3139820, 3139974], [3143375, 3143514], [3144358, 3144504], [3146586, 3146668]]
ENST00000438560 [[3111409, 3111995], [3118214, 3118311], [3133907, 3134046], [3136982, 3137128], [3139553, 3139741], [3139820, 3139974], [3143375, 3143514], [3144358, 3144504], [3146586, 3146671], [3150233, 3150375], [3151628, 3152058]] [[3111949, 3111995], [3118214, 3118311], [3133907, 3134046], [3136982, 3137128], [3139553, 3139741], [3139820, 3139974], [3143375, 3143514], [3144358, 3144504], [3146586, 3146668]]
ENST00000256452 [[3111420, 3111995], [3116465, 3116550], [3118214, 3118311], [3133907, 3134046], [3136982, 3137128], [3139553, 3139741], [3139820, 3139974], [3143375, 3143514], [3144358, 3144504], [3146586, 3146671], [3147151, 3147220], [3150233, 3150375], [3151628, 3151664]] [[3111908, 3111995], [3116465, 3116550], [3118214, 3118311], [3133907, 3134046], [3136982, 3137128], [3139553, 3139741], [3139820, 3139974], [3143375, 3143514], [3144358, 3144504], [3146586, 3146668]]
ENST00000418488 [[3111908, 3111995], [3116465, 3116550], [3118214, 3118311], [3139553, 3139741], [3139820, 3139974], [3143375, 3143514], [3144358, 3144504], [3146586, 3146668]] [[3111908, 3111995], [3116465, 3116550], [3118214, 3118311], [3139553, 3139741], [3139820, 3139974], [3143375, 3143514], [3144358, 3144504], [3146586, 3146668]]
ENST00000445864 [[3111908, 3111995], [3116465, 3116550], [3118214, 3118311], [3143375, 3143514], [3144358, 3144504], [3146586, 3146668]] [[3111908, 3111995], [3116465, 3116550], [3118214, 3118311], [3143375, 3143514], [3144358, 3144504], [3146586, 3146668]]
ENST00000383846 [[3131654, 3131940], [3133907, 3134046], [3136982, 3137128], [3139553, 3139741], [3139820, 3139974], [3143375, 3143514], [3144358, 3144504], [3146586, 3146671], [3150233, 3150375], [3151628, 3152031]] [[3131926, 3131940], [3133907, 3134046], [3136982, 3137128], [3139553, 3139741], [3139820, 3139974], [3143375, 3143514], [3144358, 3144504], [3146586, 3146668]]
ENST00000311981 [[3131856, 3131940], [3133907, 3134046], [3136982, 3137128], [3139553, 3139741], [3139820, 3139974], [3143375, 3143514], [3144358, 3144504], [3146586, 3146671], [3147151, 3147220], [3150233, 3150375], [3151628, 3151664]] [[3131926, 3131940], [3133907, 3134046], [3136982, 3137128], [3139553, 3139741], [3139820, 3139974], [3143375, 3143514], [3144358, 3144504], [3146586, 3146668]]
ENST00000430514 [[3133487, 3134046], [3136982, 3137128], [3139553, 3139741], [3139820, 3139974], [3143375, 3143514], [3144358, 3144504], [3146586, 3146671], [3147151, 3147220], [3150233, 3150375], [3151628, 3151664]] [[3133899, 3134046], [3136982, 3137128], [3139553, 3139741], [3139820, 3139974], [3143375, 3143514], [3144358, 3144504], [3146586, 3146668]]
ENST00000456302 [[3133696, 3134046], [3136982, 3137128], [3139553, 3139741], [3139820, 3139974], [3143375, 3143514], [3144358, 3144504], [3146586, 3146671], [3150233, 3150375], [3151628, 3151667]] [[3133899, 3134046], [3136982, 3137128], [3139553, 3139741], [3139820, 3139974], [3143375, 3143514], [3144358, 3144504], [3146586, 3146668]]
ENST00000445701 [[3139673, 3139741], [3139820, 3139974], [3143375, 3143514], [3144358, 3144504], [3146586, 3146671], [3150233, 3150375], [3168243, 3168297]] [[3139673, 3139741], [3139820, 3139974], [3143375, 3143514], [3144358, 3144504], [3146586, 3146668]]
ENST00000427088 [[3143415, 3143514], [3144358, 3144504], [3146586, 3146671], [3150233, 3150375], [3151683, 3152050]] [[3143415, 3143514], [3144358, 3144504], [3146586, 3146668]]
ENST00000466722 [[3150267, 3150375], [3151594, 3152049]] None
NM_000564 [[3108007, 3111995], [3116465, 3116550], [3118214, 3118311], [3133907, 3134046], [3136982, 3137128], [3139553, 3139741], [3139820, 3139974], [3143375, 3143514], [3144358, 3144504], [3146586, 3146671], [3147151, 3147220], [3150233, 3150375], [3151628, 3152058]] [[3111908, 3111995], [3116465, 3116550], [3118214, 3118311], [3133907, 3134046], [3136982, 3137128], [3139553, 3139741], [3139820, 3139974], [3143375, 3143514], [3144358, 3144504], [3146586, 3146668]]
NM_175726 [[3108007, 3111995], [3116465, 3116550], [3118214, 3118311], [3133907, 3134046], [3136982, 3137128], [3139553, 3139741], [3139820, 3139974], [3143375, 3143514], [3144358, 3144504], [3146586, 3146671], [3150233, 3150375], [3151628, 3152058]] [[3111908, 3111995], [3116465, 3116550], [3118214, 3118311], [3133907, 3134046], [3136982, 3137128], [3139553, 3139741], [3139820, 3139974], [3143375, 3143514], [3144358, 3144504], [3146586, 3146668]]
NM_001243099 [[3108007, 3111995], [3118214, 3118311], [3133907, 3134046], [3136982, 3137128], [3139553, 3139741], [3139820, 3139974], [3143375, 3143514], [3144358, 3144504], [3146586, 3146671], [3150233, 3150375], [3151628, 3152058]] [[3111949, 3111995], [3118214, 3118311], [3133907, 3134046], [3136982, 3137128], [3139553, 3139741], [3139820, 3139974], [3143375, 3143514], [3144358, 3144504], [3146586, 3146668]]
NM_175725 [[3131856, 3131940], [3133907, 3134046], [3136982, 3137128], [3139553, 3139741], [3139820, 3139974], [3143375, 3143514], [3144358, 3144504], [3146586, 3146671], [3147151, 3147220], [3150233, 3150375], [3151628, 3152058]] [[3131926, 3131940], [3133907, 3134046], [3136982, 3137128], [3139553, 3139741], [3139820, 3139974], [3143375, 3143514], [3144358, 3144504], [3146586, 3146668]]
NM_175728 [[3131856, 3131940], [3133907, 3134046], [3136982, 3137128], [3139553, 3139741], [3139820, 3139974], [3143375, 3143514], [3144358, 3144504], [3146586, 3146671], [3150233, 3150375], [3151628, 3152058]] [[3131926, 3131940], [3133907, 3134046], [3136982, 3137128], [3139553, 3139741], [3139820, 3139974], [3143375, 3143514], [3144358, 3144504], [3146586, 3146668]]
NM_175724 [[3133493, 3134046], [3136982, 3137128], [3139553, 3139741], [3139820, 3139974], [3143375, 3143514], [3144358, 3144504], [3146586, 3146671], [3147151, 3147220], [3150233, 3150375], [3151628, 3152058]] [[3133899, 3134046], [3136982, 3137128], [3139553, 3139741], [3139820, 3139974], [3143375, 3143514], [3144358, 3144504], [3146586, 3146668]]
NM_175727 [[3133493, 3134046], [3136982, 3137128], [3139553, 3139741], [3139820, 3139974], [3143375, 3143514], [3144358, 3144504], [3146586, 3146671], [3150233, 3150375], [3151628, 3152058]] [[3133899, 3134046], [3136982, 3137128], [3139553, 3139741], [3139820, 3139974], [3143375, 3143514], [3144358, 3144504], [3146586, 3146668]]
Promoter
Chrom Start End Description
chr3 3151667 3151684 CAGE_peak_1_at_IL5RA_5end
chr3 3151837 3151844 CAGE_peak_10_at_IL5RA_5end
chr3 3151845 3151872 CAGE_peak_3_at_IL5RA_5end
chr3 3151873 3151884 CAGE_peak_7_at_IL5RA_5end
chr3 3151947 3151970 CAGE_peak_5_at_IL5RA_5end
chr3 3152043 3152064 CAGE_peak_4_at_IL5RA_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I003145 3145492 3148924 0.43 [{'connected_gene': 'TRNT1', 'score': 34.54}, {'connected_gene': 'CRBN', 'score': 31.51}, {'connected_gene': 'IL5RA', 'score': 12.89}, {'connected_gene': 'ENSG00000253049', 'score': 11.14}, {'connected_gene': 'ENSG00000271870', 'score': 5.21}, {'connected_gene': 'GC03P003130', 'score': 0.37}]
chr3 GH03I003170 3170465 3176616 0.99 [{'connected_gene': 'TRNT1', 'score': 29.6}, {'connected_gene': 'CRBN', 'score': 21.02}, {'connected_gene': 'IL5RA', 'score': 12.18}, {'connected_gene': 'ENSG00000271870', 'score': 0.34}]
chr3 GH03I003191 3191224 3192964 1.26 [{'connected_gene': 'TRNT1', 'score': 11.33}, {'connected_gene': 'IL5RA', 'score': 11.05}, {'connected_gene': 'CRBN', 'score': 3.85}, {'connected_gene': 'GC03M003375', 'score': 0.09}]
chr3 GH03I003125 3125802 3128844 2.27 [{'connected_gene': 'TRNT1', 'score': 556.02}, {'connected_gene': 'IL5RA', 'score': 550.77}, {'connected_gene': 'CRBN', 'score': 21.59}, {'connected_gene': 'GC03P003130', 'score': 0.77}]
chr3 GH03I003109 3109110 3111194 1.47 [{'connected_gene': 'IL5RA', 'score': 550.37}, {'connected_gene': 'CNTN4-AS1', 'score': 10.97}, {'connected_gene': 'ENSG00000253049', 'score': 0.44}]