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
ENST00000508956 [[134321979, 134323316], [134327490, 134327681], [134329036, 134329225], [134337989, 134338107], [134339590, 134339699], [134343894, 134343977], [134346597, 134346660], [134348462, 134348537], [134366276, 134366339], [134369666, 134369860]] [[134322420, 134323316], [134327490, 134327681], [134329036, 134329225], [134337989, 134338107], [134339590, 134339699], [134343894, 134343977], [134346597, 134346660], [134348462, 134348537], [134366276, 134366339], [134369666, 134369802]]
ENST00000423778 [[134322123, 134323316], [134327490, 134327681], [134329036, 134329225], [134337989, 134338107], [134339590, 134339699], [134343894, 134343977], [134346597, 134346660], [134348462, 134348537], [134362157, 134362220], [134366276, 134366339], [134369666, 134369864]] [[134322420, 134323316], [134327490, 134327681], [134329036, 134329225], [134337989, 134338107], [134339590, 134339699], [134343894, 134343977], [134346597, 134346660], [134348462, 134348537], [134362157, 134362220], [134366276, 134366339], [134369666, 134369802]]
ENST00000503669 [[134322273, 134323316], [134329036, 134329225], [134337989, 134338107], [134339590, 134339699], [134343894, 134343977], [134346597, 134346660], [134348462, 134348537], [134362157, 134362220], [134366276, 134366339], [134369666, 134369863]] [[134323288, 134323316], [134329036, 134329225], [134337989, 134338107], [134339590, 134339699], [134343894, 134343977], [134346597, 134346660], [134348462, 134348537], [134362157, 134362220], [134366276, 134366339], [134369666, 134369802]]
ENST00000506319 [[134325842, 134327681], [134329036, 134329225], [134329363, 134329549], [134337989, 134338107], [134338791, 134338830], [134339590, 134339699], [134343894, 134343977], [134346597, 134346660], [134348245, 134348537], [134358666, 134358784], [134359996, 134360119], [134362157, 134362220], [134366276, 134366339], [134369720, 134370478]] None
ENST00000508041 [[134331801, 134332038], [134337989, 134338107], [134339590, 134339699], [134343894, 134343977], [134346597, 134346660], [134346730, 134346845]] None
NM_178554 [[134318764, 134323316], [134327490, 134327681], [134329036, 134329225], [134337989, 134338107], [134339590, 134339699], [134343894, 134343977], [134346597, 134346660], [134348462, 134348537], [134362157, 134362220], [134366276, 134366339], [134369666, 134369864]] [[134322420, 134323316], [134327490, 134327681], [134329036, 134329225], [134337989, 134338107], [134339590, 134339699], [134343894, 134343977], [134346597, 134346660], [134348462, 134348537], [134362157, 134362220], [134366276, 134366339], [134369666, 134369802]]
Promoter
Chrom Start End Description
chr3 134369853 134369872 CAGE_peak_1_at_KY_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I134677 134677145 134679878 0.52 [{'connected_gene': 'CEP63', 'score': 6.17}, {'connected_gene': 'KY', 'score': 0.31}, {'connected_gene': 'EPHB1', 'score': 0.18}, {'connected_gene': 'RNU6-1174P', 'score': 0.15}]
chr3 GH03I134681 134681713 134684014 0.31 [{'connected_gene': 'CEP63', 'score': 6.66}, {'connected_gene': 'KY', 'score': 0.29}, {'connected_gene': 'EPHB1', 'score': 0.17}, {'connected_gene': 'RNU6-1174P', 'score': 0.15}]
chr3 GH03I134650 134650266 134652358 1.72 [{'connected_gene': 'KY', 'score': 550.77}, {'connected_gene': 'ANAPC13', 'score': 23.9}, {'connected_gene': 'GC03M134600', 'score': 0.25}, {'connected_gene': 'EPHB1', 'score': 0.23}]
chr3 GH03I134685 134685692 134687063 0.51 [{'connected_gene': 'KY', 'score': 11.53}, {'connected_gene': 'EPHB1', 'score': 4.83}, {'connected_gene': 'CEP63', 'score': 4.23}, {'connected_gene': 'RNU6-1174P', 'score': 0.16}]
chr3 GH03I134680 134680259 134680408 0.4 [{'connected_gene': 'KY', 'score': 0.31}, {'connected_gene': 'EPHB1', 'score': 0.18}, {'connected_gene': 'RNU6-1174P', 'score': 0.15}]
chr3 GH03I134590 134590921 134591319 0.24 [{'connected_gene': 'ANAPC13', 'score': 65.81}, {'connected_gene': 'CEP63', 'score': 25.98}, {'connected_gene': 'KY', 'score': 10.7}, {'connected_gene': 'EPHB1', 'score': 0.44}, {'connected_gene': 'PIR32535', 'score': 0.31}, {'connected_gene': 'GC03P134564', 'score': 0.31}]
chr3 GH03I134644 134644226 134646340 0.43 [{'connected_gene': 'ANAPC13', 'score': 28.59}, {'connected_gene': 'CEP63', 'score': 12.89}, {'connected_gene': 'KY', 'score': 0.44}, {'connected_gene': 'GC03M134600', 'score': 0.26}, {'connected_gene': 'EPHB1', 'score': 0.25}]
chr3 GH03I134662 134662753 134665574 0.63 [{'connected_gene': 'ANAPC13', 'score': 16.34}, {'connected_gene': 'EPHB1', 'score': 10.81}, {'connected_gene': 'KY', 'score': 0.39}, {'connected_gene': 'RNU6-1174P', 'score': 0.13}]
chr3 GH03I134605 134605401 134607600 0.54 [{'connected_gene': 'ANAPC13', 'score': 54.22}, {'connected_gene': 'GC03M134600', 'score': 0.77}, {'connected_gene': 'EPHB1', 'score': 0.44}, {'connected_gene': 'KY', 'score': 0.25}]
chr3 GH03I134601 134601931 134602759 0.62 [{'connected_gene': 'GC03M134600', 'score': 550.77}, {'connected_gene': 'ANAPC13', 'score': 52.45}, {'connected_gene': 'EPHB1', 'score': 0.77}, {'connected_gene': 'KY', 'score': 0.25}]
chr3 GH03I134600 134600601 134601457 0.64 [{'connected_gene': 'GC03M134600', 'score': 550.77}, {'connected_gene': 'ANAPC13', 'score': 54.56}, {'connected_gene': 'EPHB1', 'score': 0.77}, {'connected_gene': 'KY', 'score': 0.23}]