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
ENST00000493990 [[97483364, 97483821], [97484834, 97484933], [97486924, 97487074], [97499002, 97499064], [97499458, 97499527], [97503798, 97503893], [97506833, 97506963], [97510614, 97510670], [97516867, 97517047], [97519546, 97519953]] [[97486951, 97487074], [97499002, 97499064], [97499458, 97499527], [97503798, 97503893], [97506833, 97506963], [97510614, 97510670], [97516867, 97516893]]
ENST00000494363 [[97512215, 97512246], [97516867, 97517047], [97519609, 97519951]] None
ENST00000463745 [[97483371, 97483821], [97486924, 97487074], [97499002, 97499064], [97499458, 97499527], [97503798, 97503893], [97506833, 97506963], [97510614, 97510670], [97516867, 97517373]] [[97486951, 97487074], [97499002, 97499064], [97499458, 97499527], [97503798, 97503893], [97506833, 97506963], [97510614, 97510670], [97516867, 97516893]]
ENST00000462412 [[97483376, 97483821], [97485475, 97485534], [97486924, 97487074], [97499002, 97499064], [97499458, 97499527], [97503798, 97503893], [97506833, 97506847]] [[97486951, 97487074], [97499002, 97499064], [97499458, 97499527], [97503798, 97503893], [97506833, 97506847]]
ENST00000394206 [[97483594, 97483821], [97485475, 97485534], [97486924, 97487074], [97499002, 97499064], [97499458, 97499527], [97503798, 97503893], [97506833, 97506963], [97510614, 97510670], [97516867, 97517369]] [[97486951, 97487074], [97499002, 97499064], [97499458, 97499527], [97503798, 97503893], [97506833, 97506963], [97510614, 97510670], [97516867, 97516893]]
ENST00000335979 [[97483594, 97483821], [97484834, 97484933], [97486924, 97487074], [97499002, 97499064], [97499458, 97499527], [97503798, 97503893], [97506833, 97506963], [97510614, 97510670], [97516867, 97517369]] [[97486951, 97487074], [97499002, 97499064], [97499458, 97499527], [97503798, 97503893], [97506833, 97506963], [97510614, 97510670], [97516867, 97516893]]
ENST00000496713 [[97483610, 97483821], [97486924, 97487074], [97499002, 97499064], [97499458, 97499527], [97503798, 97503893], [97506833, 97506963], [97510057, 97510191]] None
ENST00000476753 [[97503860, 97503893], [97506833, 97506963], [97516867, 97517379]] [[97503860, 97503893], [97506833, 97506963], [97516867, 97516868]]
NR_136602 [[97483364, 97483821], [97486924, 97487074], [97499002, 97499064], [97499458, 97499527], [97503798, 97503893], [97506833, 97506963], [97516867, 97517047], [97519546, 97520086]] None
NM_001323514 [[97483364, 97483821], [97486924, 97487074], [97499002, 97499064], [97499458, 97499527], [97503798, 97503893], [97506833, 97506963], [97516867, 97520086]] [[97486951, 97487074], [97499002, 97499064], [97499458, 97499527], [97503798, 97503893], [97506833, 97506963], [97516867, 97516868]]
NR_136601 [[97483364, 97483821], [97486924, 97487074], [97499002, 97499064], [97499458, 97499527], [97503798, 97503893], [97506833, 97506963], [97510614, 97510670], [97516867, 97517047], [97519546, 97520086]] None
NM_001278293 [[97483364, 97483821], [97486924, 97487074], [97499002, 97499064], [97499458, 97499527], [97503798, 97503893], [97506833, 97506963], [97510614, 97510670], [97516867, 97520086]] [[97486951, 97487074], [97499002, 97499064], [97499458, 97499527], [97503798, 97503893], [97506833, 97506963], [97510614, 97510670], [97516867, 97516893]]
NR_136600 [[97483364, 97483821], [97486924, 97487074], [97499002, 97499064], [97499458, 97499527], [97503798, 97503893], [97506833, 97506963], [97510614, 97510670], [97510796, 97510809], [97516867, 97517047], [97519546, 97520086]] None
NM_001323513 [[97483364, 97483821], [97486924, 97487074], [97499002, 97499064], [97499458, 97499527], [97503798, 97503893], [97506833, 97506963], [97510614, 97510670], [97510796, 97510809], [97516867, 97520086]] [[97486951, 97487074], [97499002, 97499064], [97499458, 97499527], [97503798, 97503893], [97506833, 97506963], [97510614, 97510670], [97510796, 97510809], [97516867, 97516901]]
NR_136597 [[97483364, 97483821], [97486924, 97487074], [97499002, 97499064], [97499458, 97499527], [97503798, 97503893], [97506833, 97506963], [97510057, 97510670], [97516867, 97520086]] None
NR_136598 [[97483364, 97483821], [97486924, 97487074], [97499002, 97499064], [97499458, 97499531], [97503798, 97503893], [97506833, 97506963], [97510614, 97510670], [97516867, 97520086]] None
NM_177976 [[97483364, 97483821], [97485475, 97485534], [97486924, 97487074], [97499002, 97499064], [97499458, 97499527], [97503798, 97503893], [97506833, 97506963], [97510614, 97510670], [97516867, 97520086]] [[97486951, 97487074], [97499002, 97499064], [97499458, 97499527], [97503798, 97503893], [97506833, 97506963], [97510614, 97510670], [97516867, 97516893]]
NR_103511 [[97483364, 97483821], [97484834, 97484933], [97486924, 97487074], [97499002, 97499064], [97499458, 97499527], [97503798, 97503893], [97506833, 97506963], [97510614, 97510670], [97516867, 97517047], [97519546, 97520086]] None
NM_032146 [[97483364, 97483821], [97484834, 97484933], [97486924, 97487074], [97499002, 97499064], [97499458, 97499527], [97503798, 97503893], [97506833, 97506963], [97510614, 97510670], [97516867, 97520086]] [[97486951, 97487074], [97499002, 97499064], [97499458, 97499527], [97503798, 97503893], [97506833, 97506963], [97510614, 97510670], [97516867, 97516893]]
NR_136595 [[97483364, 97483821], [97484834, 97484933], [97486924, 97487074], [97499002, 97499064], [97499458, 97499527], [97503798, 97503893], [97506833, 97506963], [97510057, 97510670], [97510796, 97510809], [97516867, 97520086]] None
Promoter
Chrom Start End Description
chr3 97483366 97483422 CAGE_peak_2_at_ARL6_5end
chr3 97483430 97483457 CAGE_peak_3_at_ARL6_5end
chr3 97483572 97483644 CAGE_peak_1_at_ARL6_5end
chr3 97483652 97483663 CAGE_peak_4_at_ARL6_5end
chr3 97483675 97483686 CAGE_peak_5_at_ARL6_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I098013 98013557 98013706 0.67 [{'connected_gene': 'RIOX2', 'score': 10.93}, {'connected_gene': 'ARL6', 'score': 9.42}, {'connected_gene': 'GABRR3', 'score': 0.34}]
chr3 GH03I097981 97981501 97984451 0.81 [{'connected_gene': 'ARL6', 'score': 9.84}, {'connected_gene': 'RIOX2', 'score': 4.28}, {'connected_gene': 'OR5K3', 'score': 3.76}, {'connected_gene': 'OR5AC2', 'score': 2.79}, {'connected_gene': 'GABRR3', 'score': 0.23}]
chr3 GH03I097793 97793577 97793706 0.62 [{'connected_gene': 'ARL6', 'score': 11.34}, {'connected_gene': 'RIOX2', 'score': 10.26}, {'connected_gene': 'GC03M097791', 'score': 0.44}, {'connected_gene': 'GC03M097742', 'score': 0.31}]
chr3 GH03I097763 97763601 97765601 1.96 [{'connected_gene': 'ARL6', 'score': 550.77}, {'connected_gene': 'GC03M097742', 'score': 0.77}, {'connected_gene': 'EPHA6', 'score': 0.02}]