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
ENST00000599698 [[8554939, 8555256], [8555359, 8555393], [8555477, 8555759]] None
ENST00000423345 [[8554939, 8555110], [8555221, 8555256], [8555359, 8555393], [8555477, 8555640], [8555770, 8555879], [8555983, 8556041], [8562647, 8562724], [8563106, 8563173], [8563259, 8564664], [8567448, 8567996]] [[8555072, 8555110], [8555221, 8555256], [8555359, 8555393], [8555477, 8555640], [8555770, 8555879], [8555983, 8556041], [8562647, 8562724], [8563106, 8563173], [8563259, 8564664], [8567448, 8567475]]
ENST00000255612 [[8554940, 8555110], [8555221, 8555256], [8555359, 8555393], [8555477, 8555640], [8555770, 8555879], [8555983, 8556041], [8562647, 8562724], [8563109, 8563173], [8563259, 8564664], [8567448, 8567495]] [[8555072, 8555110], [8555221, 8555256], [8555359, 8555393], [8555477, 8555640], [8555770, 8555879], [8555983, 8556041], [8562647, 8562724], [8563109, 8563173], [8563259, 8564664], [8567448, 8567475]]
ENST00000594696 [[8554968, 8555110], [8555221, 8555256], [8555359, 8555393], [8555477, 8555640], [8555770, 8555879], [8555983, 8556907]] None
ENST00000600262 [[8564079, 8564358], [8564430, 8564664], [8567448, 8567518]] [[8564079, 8564358], [8564430, 8564664], [8567448, 8567475]]
NM_032152 [[8554939, 8555110], [8555221, 8555256], [8555359, 8555393], [8555477, 8555640], [8555770, 8555879], [8555983, 8556041], [8562647, 8562724], [8563106, 8563173], [8563259, 8564664], [8567448, 8567538]] [[8555072, 8555110], [8555221, 8555256], [8555359, 8555393], [8555477, 8555640], [8555770, 8555879], [8555983, 8556041], [8562647, 8562724], [8563106, 8563173], [8563259, 8564664], [8567448, 8567475]]
Promoter
Chrom Start End Description
chr19 8567478 8567493 CAGE_peak_2_at_PRAM1_5end
chr19 8567505 8567540 CAGE_peak_1_at_PRAM1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I008085 8085294 8086910 0.97 [{'connected_gene': 'FBN3', 'score': 5.41}, {'connected_gene': 'MAP2K7', 'score': 5.3}, {'connected_gene': 'PRAM1', 'score': 5.01}, {'connected_gene': 'GC19M008058', 'score': 0.31}, {'connected_gene': 'GC19M008113', 'score': 0.31}]
chr19 GH19I008499 8499757 8500734 0.84 [{'connected_gene': 'ZNF414', 'score': 9.9}, {'connected_gene': 'PRAM1', 'score': 0.77}, {'connected_gene': 'GC19P008487', 'score': 0.39}]
chr19 GH19I008511 8511857 8520274 2.55 [{'connected_gene': 'ZNF414', 'score': 572.01}, {'connected_gene': 'XAB2', 'score': 22.13}, {'connected_gene': 'ZNF317', 'score': 21.76}, {'connected_gene': 'MYO1F', 'score': 20.11}, {'connected_gene': 'ZNF177', 'score': 16.48}, {'connected_gene': 'ZNF266', 'score': 13.77}, {'connected_gene': 'PRAM1', 'score': 13.39}, {'connected_gene': 'HNRNPM', 'score': 11.86}, {'connected_gene': 'MAP2K7', 'score': 10.38}, {'connected_gene': 'ENSG00000267273', 'score': 10.09}, {'connected_gene': 'ZNF558', 'score': 10.03}, {'connected_gene': 'ZNF699', 'score': 9.91}, {'connected_gene': 'STXBP2', 'score': 9.72}, {'connected_gene': 'MARCH2', 'score': 9.19}, {'connected_gene': 'ENSG00000268618', 'score': 0.29}]
chr19 GH19I008504 8504161 8504908 0.92 [{'connected_gene': 'PRAM1', 'score': 550.77}, {'connected_gene': 'GC19P008503', 'score': 550.77}, {'connected_gene': 'ZNF414', 'score': 10.0}]
chr19 GH19I008468 8468257 8469417 0.46 [{'connected_gene': 'PRAM1', 'score': 21.35}, {'connected_gene': 'MARCH2', 'score': 15.11}, {'connected_gene': 'GC19P008487', 'score': 0.37}, {'connected_gene': 'ENSG00000279827', 'score': 0.34}, {'connected_gene': 'HNRNPM', 'score': 0.34}]
chr19 GH19I008484 8484353 8485257 0.31 [{'connected_gene': 'PRAM1', 'score': 9.27}, {'connected_gene': 'GC19P008487', 'score': 0.77}, {'connected_gene': 'ENSG00000279827', 'score': 0.28}, {'connected_gene': 'HNRNPM', 'score': 0.26}]
chr19 GH19I008482 8482150 8482943 0.54 [{'connected_gene': 'PRAM1', 'score': 10.14}, {'connected_gene': 'GC19P008487', 'score': 0.77}, {'connected_gene': 'ENSG00000279827', 'score': 0.28}, {'connected_gene': 'HNRNPM', 'score': 0.28}]
chr19 GH19I008453 8453819 8454056 0.38 [{'connected_gene': 'PRAM1', 'score': 20.76}, {'connected_gene': 'ENSG00000279827', 'score': 0.44}, {'connected_gene': 'HNRNPM', 'score': 0.44}, {'connected_gene': 'GC19P008487', 'score': 0.29}]
chr19 GH19I008466 8466157 8466326 0.31 [{'connected_gene': 'PRAM1', 'score': 12.46}, {'connected_gene': 'ENSG00000279827', 'score': 0.34}, {'connected_gene': 'HNRNPM', 'score': 0.34}, {'connected_gene': 'GC19P008487', 'score': 0.34}]
chr19 GH19I008469 8469796 8470807 0.46 [{'connected_gene': 'PRAM1', 'score': 19.04}, {'connected_gene': 'GC19P008487', 'score': 0.37}, {'connected_gene': 'ENSG00000279827', 'score': 0.34}, {'connected_gene': 'HNRNPM', 'score': 0.31}]
chr19 GH19I008477 8477793 8478629 0.49 [{'connected_gene': 'PRAM1', 'score': 9.26}, {'connected_gene': 'GC19P008487', 'score': 0.44}, {'connected_gene': 'ENSG00000279827', 'score': 0.29}, {'connected_gene': 'HNRNPM', 'score': 0.29}]
chr19 GH19I008441 8441484 8442413 0.56 [{'connected_gene': 'PRAM1', 'score': 5.0}, {'connected_gene': 'HNRNPM', 'score': 0.77}, {'connected_gene': 'GC19M008427', 'score': 0.39}]
chr19 GH19I008501 8501805 8503850 1.47 [{'connected_gene': 'PRAM1', 'score': 564.32}, {'connected_gene': 'GC19P008503', 'score': 550.77}, {'connected_gene': 'MYO1F', 'score': 15.64}, {'connected_gene': 'ZNF414', 'score': 10.77}, {'connected_gene': 'MARCH2', 'score': 8.65}, {'connected_gene': 'GC19P008487', 'score': 0.37}]
chr19 GH19I008050 8050001 8054897 1.87 [{'connected_gene': 'CCL25', 'score': 550.77}, {'connected_gene': 'RETN', 'score': 5.24}, {'connected_gene': 'MCEMP1', 'score': 4.67}, {'connected_gene': 'STXBP2', 'score': 2.58}, {'connected_gene': 'PRAM1', 'score': 1.5}, {'connected_gene': 'GC19M008058', 'score': 0.44}]
chr19 GH19I008472 8472281 8474906 0.87 [{'connected_gene': 'MARCH2', 'score': 27.32}, {'connected_gene': 'PRAM1', 'score': 18.38}, {'connected_gene': 'GC19P008487', 'score': 0.39}, {'connected_gene': 'ENSG00000279827', 'score': 0.31}, {'connected_gene': 'HNRNPM', 'score': 0.31}]
chr19 GH19I008449 8449844 8450586 0.46 [{'connected_gene': 'MARCH2', 'score': 32.27}, {'connected_gene': 'PRAM1', 'score': 11.83}, {'connected_gene': 'ENSG00000279827', 'score': 0.77}, {'connected_gene': 'HNRNPM', 'score': 0.44}, {'connected_gene': 'GC19P008487', 'score': 0.28}]
chr19 GH19I008451 8451234 8452821 0.75 [{'connected_gene': 'MARCH2', 'score': 32.24}, {'connected_gene': 'PRAM1', 'score': 17.34}, {'connected_gene': 'ENSG00000279827', 'score': 0.44}, {'connected_gene': 'HNRNPM', 'score': 0.44}, {'connected_gene': 'GC19P008487', 'score': 0.28}]
chr19 GH19I008457 8457921 8461710 0.85 [{'connected_gene': 'MARCH2', 'score': 38.52}, {'connected_gene': 'PRAM1', 'score': 8.97}, {'connected_gene': 'ENSG00000279827', 'score': 0.39}, {'connected_gene': 'HNRNPM', 'score': 0.37}, {'connected_gene': 'GC19P008487', 'score': 0.31}]
chr19 GH19I008422 8422859 8425159 1.48 [{'connected_gene': 'MARCH2', 'score': 14.62}, {'connected_gene': 'PRAM1', 'score': 4.85}, {'connected_gene': 'MYO1F', 'score': 3.87}, {'connected_gene': 'PIR43177', 'score': 0.77}, {'connected_gene': 'GC19P008426', 'score': 0.77}, {'connected_gene': 'ENSG00000268931', 'score': 0.77}]
chr19 GH19I008492 8492409 8496444 1.07 [{'connected_gene': 'MARCH2', 'score': 29.33}, {'connected_gene': 'PRAM1', 'score': 6.81}, {'connected_gene': 'GC19P008487', 'score': 0.44}]
chr19 GH19I008540 8540697 8541362 1.03 [{'connected_gene': 'MYO1F', 'score': 20.74}, {'connected_gene': 'PRAM1', 'score': 6.99}, {'connected_gene': 'MARCH2', 'score': 2.49}, {'connected_gene': 'ENSG00000268618', 'score': 0.44}, {'connected_gene': 'ZNF414', 'score': 0.31}]
chr19 GH19I008574 8574752 8578173 1.53 [{'connected_gene': 'MYO1F', 'score': 593.39}, {'connected_gene': 'GC19M008577', 'score': 550.77}, {'connected_gene': 'ENSG00000279396', 'score': 550.77}, {'connected_gene': 'PRAM1', 'score': 10.7}, {'connected_gene': 'ENSG00000267986', 'score': 10.5}, {'connected_gene': 'MARCH2', 'score': 1.91}]
chr19 GH19I008542 8542256 8542567 0.26 [{'connected_gene': 'MYO1F', 'score': 20.82}, {'connected_gene': 'PRAM1', 'score': 5.74}, {'connected_gene': 'RAB11B', 'score': 1.24}, {'connected_gene': 'ENSG00000268618', 'score': 0.44}, {'connected_gene': 'ZNF414', 'score': 0.31}]
chr19 GH19I008637 8637801 8641251 1.37 [{'connected_gene': 'MYO1F', 'score': 31.26}, {'connected_gene': 'ADAMTS10', 'score': 12.1}, {'connected_gene': 'ACTL9', 'score': 11.65}, {'connected_gene': 'PRAM1', 'score': 5.76}, {'connected_gene': 'LOC100128428', 'score': 4.78}, {'connected_gene': 'LINC01862', 'score': 0.44}, {'connected_gene': 'ENSG00000261866', 'score': 0.28}, {'connected_gene': 'GC19P008677', 'score': 0.28}]
chr19 GH19I008566 8566854 8574398 1.21 [{'connected_gene': 'MYO1F', 'score': 40.23}, {'connected_gene': 'ZNF266', 'score': 19.92}, {'connected_gene': 'HNRNPM', 'score': 19.59}, {'connected_gene': 'ZNF699', 'score': 19.38}, {'connected_gene': 'ZNF317', 'score': 15.5}, {'connected_gene': 'ZNF558', 'score': 15.19}, {'connected_gene': 'ELAVL1', 'score': 14.3}, {'connected_gene': 'ZNF559', 'score': 12.93}, {'connected_gene': 'XAB2', 'score': 11.99}, {'connected_gene': 'PRAM1', 'score': 11.53}, {'connected_gene': 'MAP2K7', 'score': 10.75}, {'connected_gene': 'CD209', 'score': 10.12}, {'connected_gene': 'ENSG00000267986', 'score': 9.84}, {'connected_gene': 'ZNF426', 'score': 9.73}, {'connected_gene': 'MARCH2', 'score': 3.32}, {'connected_gene': 'RAB11B', 'score': 1.18}, {'connected_gene': 'ENSG00000279396', 'score': 0.44}, {'connected_gene': 'PIR49089', 'score': 0.44}]
chr19 GH19I008491 8491677 8491826 0.54 [{'connected_gene': 'GC19P008487', 'score': 0.77}, {'connected_gene': 'PRAM1', 'score': 0.39}]
chr19 GH19I008485 8485788 8490491 1.06 [{'connected_gene': 'GC19P008487', 'score': 550.77}, {'connected_gene': 'MARCH2', 'score': 38.36}, {'connected_gene': 'PRAM1', 'score': 9.36}, {'connected_gene': 'HNRNPM', 'score': 0.26}]
chr19 GH19I008444 8444200 8448139 2.24 [{'connected_gene': 'ENSG00000279827', 'score': 550.77}, {'connected_gene': 'HNRNPM', 'score': 550.77}, {'connected_gene': 'MARCH2', 'score': 32.29}, {'connected_gene': 'PRAM1', 'score': 9.32}, {'connected_gene': 'GC19P008487', 'score': 0.26}]