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
ENST00000182096 [[97595818, 97596881], [97598547, 97598592], [97598828, 97598944], [97599915, 97600063], [97605474, 97605611], [97607184, 97607299], [97608198, 97608234], [97611703, 97611837], [97614802, 97614929], [97617726, 97617869], [97617980, 97618107], [97619296, 97619329], [97631010, 97631120], [97634453, 97634580], [97652537, 97652677], [97655628, 97655752], [97659991, 97660150], [97661127, 97661287], [97662069, 97663807]] [[97595882, 97596881], [97598547, 97598592], [97598828, 97598944], [97599915, 97600063], [97605474, 97605611], [97607184, 97607299], [97608198, 97608234], [97611703, 97611837], [97614802, 97614929], [97617726, 97617869], [97617980, 97618107], [97619296, 97619329], [97631010, 97631120], [97634453, 97634580], [97652537, 97652677], [97655628, 97655752], [97659991, 97660150], [97661127, 97661287], [97662069, 97662158]]
ENST00000495403 [[97643055, 97643255], [97652537, 97652677], [97655628, 97655752], [97659991, 97660105]] [[97643240, 97643255], [97652537, 97652677], [97655628, 97655752], [97659991, 97660105]]
ENST00000485253 [[97643055, 97643255], [97652537, 97652677], [97655628, 97655752], [97659991, 97660150], [97661127, 97661287], [97662069, 97662414], [97663677, 97663801]] None
ENST00000389622 [[97651955, 97651967], [97652345, 97652351], [97652537, 97652677], [97655628, 97655752], [97659991, 97660150], [97661127, 97661287], [97662069, 97663810]] [[97651955, 97651967], [97652345, 97652351], [97652537, 97652677], [97655628, 97655752], [97659991, 97660150], [97661127, 97661287], [97662069, 97662158]]
NM_153605 [[97540883, 97541199], [97562038, 97562105], [97583060, 97583491], [97590685, 97596881], [97598547, 97598592], [97598828, 97598944], [97599915, 97600063], [97605474, 97605611], [97607184, 97607299], [97608198, 97608234], [97611703, 97611837], [97614802, 97614929], [97617726, 97617869], [97617980, 97618107], [97619296, 97619329], [97631010, 97631120], [97634453, 97634580], [97652537, 97652677], [97655628, 97655752], [97659991, 97660150], [97661127, 97661287], [97662069, 97663830]] [[97541050, 97541199], [97562038, 97562105], [97583060, 97583491], [97590685, 97596881], [97598547, 97598592], [97598828, 97598944], [97599915, 97600063], [97605474, 97605611], [97607184, 97607299], [97608198, 97608234], [97611703, 97611837], [97614802, 97614929], [97617726, 97617869], [97617980, 97618107], [97619296, 97619329], [97631010, 97631120], [97634453, 97634580], [97652537, 97652677], [97655628, 97655752], [97659991, 97660150], [97661127, 97661287], [97662069, 97662158]]
Promoter
Chrom Start End Description
chr3 97540828 97540870 CAGE_peak_2_at_CRYBG3_5end
chr3 97540876 97540923 CAGE_peak_1_at_CRYBG3_5end
chr3 97594350 97594360 CAGE_peak_3_at_CRYBG3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I097910 97910201 97911941 1.05 [{'connected_gene': 'RIOX2', 'score': 11.43}, {'connected_gene': 'CRYBG3', 'score': 4.69}, {'connected_gene': 'LOC105373994', 'score': 0.28}]
chr3 GH03I097969 97969486 97973483 1.93 [{'connected_gene': 'RIOX2', 'score': 555.92}, {'connected_gene': 'CRYBG3', 'score': 4.61}, {'connected_gene': 'LOC105373994', 'score': 0.15}]
chr3 GH03I097882 97882579 97883401 0.72 [{'connected_gene': 'RIOX2', 'score': 15.08}, {'connected_gene': 'LOC105373994', 'score': 0.44}, {'connected_gene': 'CRYBG3', 'score': 0.21}]
chr3 GH03I098038 98038937 98039955 1.04 [{'connected_gene': 'OR5K4', 'score': 10.11}, {'connected_gene': 'CRYBG3', 'score': 9.0}, {'connected_gene': 'GABRR3', 'score': 0.77}, {'connected_gene': 'GC03P098051', 'score': 0.39}]
chr3 GH03I098035 98035305 98035364 0.79 [{'connected_gene': 'GABRR3', 'score': 550.77}, {'connected_gene': 'CRYBG3', 'score': 15.61}, {'connected_gene': 'GC03P098051', 'score': 0.37}]
chr3 GH03I097914 97914517 97914626 0.54 [{'connected_gene': 'LOC105373994', 'score': 0.28}, {'connected_gene': 'RIOX2', 'score': 0.22}, {'connected_gene': 'CRYBG3', 'score': 0.16}]
chr3 GH03I097901 97901401 97902200 0.52 [{'connected_gene': 'LOC105373994', 'score': 0.31}, {'connected_gene': 'RIOX2', 'score': 0.19}, {'connected_gene': 'CRYBG3', 'score': 0.18}]
chr3 GH03I097871 97871214 97873421 0.72 [{'connected_gene': 'LOC105373994', 'score': 0.77}, {'connected_gene': 'CRYBG3', 'score': 0.23}]
chr3 GH03I097820 97820922 97824037 2.07 [{'connected_gene': 'LOC101929298', 'score': 550.77}, {'connected_gene': 'CRYBG3', 'score': 550.77}, {'connected_gene': 'RIOX2', 'score': 10.51}, {'connected_gene': 'LOC105373994', 'score': 0.23}]