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
ENST00000597664 [[44275557, 44276765], [44277437, 44277554], [44280092, 44280225], [44282182, 44282368], [44283470, 44283527], [44285204, 44285418], [44285678, 44285744], [44286941, 44287174], [44287567, 44287890]] [[44276674, 44276765], [44277437, 44277554], [44280092, 44280225], [44282182, 44282368], [44283470, 44283527], [44285204, 44285418], [44285678, 44285744], [44286941, 44287174], [44287567, 44287760]]
ENST00000593866 [[44275558, 44276765], [44277437, 44277554], [44280092, 44280225], [44282182, 44282368], [44283470, 44283531], [44285208, 44285375], [44287567, 44287893]] [[44276674, 44276765], [44277437, 44277554], [44280092, 44280225], [44282182, 44282368], [44283470, 44283531], [44285208, 44285375], [44287567, 44287760]]
ENST00000216177 [[44275558, 44276765], [44277437, 44277554], [44280092, 44280225], [44282182, 44282368], [44283470, 44283531], [44285208, 44285418], [44285678, 44285744], [44286941, 44287174], [44287567, 44287893]] [[44276674, 44276765], [44277437, 44277554], [44280092, 44280225], [44282182, 44282368], [44283470, 44283531], [44285208, 44285418], [44285678, 44285744], [44286941, 44287174], [44287567, 44287760]]
ENST00000381198 [[44275755, 44276765], [44277437, 44277554], [44280092, 44280225], [44282182, 44282368], [44283470, 44283527], [44285204, 44285375], [44287567, 44287893]] [[44276674, 44276765], [44277437, 44277554], [44280092, 44280225], [44282182, 44282368], [44283470, 44283527], [44285204, 44285375], [44287567, 44287760]]
ENST00000438734 [[44280092, 44280225], [44282182, 44282368], [44283470, 44283531], [44286941, 44287174], [44287567, 44287875]] [[44280092, 44280225], [44282182, 44282368], [44283470, 44283531], [44286941, 44287174], [44287567, 44287760]]
NM_138814 [[44275557, 44276765], [44277437, 44277554], [44280092, 44280225], [44282182, 44282368], [44283470, 44283531], [44285208, 44285418], [44285678, 44285744], [44286941, 44287174], [44287567, 44287893]] [[44276674, 44276765], [44277437, 44277554], [44280092, 44280225], [44282182, 44282368], [44283470, 44283531], [44285208, 44285418], [44285678, 44285744], [44286941, 44287174], [44287567, 44287760]]
NM_001177675 [[44275557, 44276765], [44277437, 44277554], [44280092, 44280225], [44282182, 44282368], [44283470, 44283531], [44285208, 44285375], [44287567, 44287893]] [[44276674, 44276765], [44277437, 44277554], [44280092, 44280225], [44282182, 44282368], [44283470, 44283531], [44285208, 44285375], [44287567, 44287760]]
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr22 GH22I043901 43901532 43903237 0.52 [{'connected_gene': 'PNPLA3', 'score': 36.85}, {'connected_gene': 'SULT4A1', 'score': 10.9}, {'connected_gene': 'EFCAB6', 'score': 10.71}, {'connected_gene': 'SHISAL1', 'score': 9.75}, {'connected_gene': 'PNPLA5', 'score': 0.39}]
chr22 GH22I043897 43897624 43898407 0.49 [{'connected_gene': 'EFCAB6', 'score': 20.57}, {'connected_gene': 'PNPLA3', 'score': 12.27}, {'connected_gene': 'SULT4A1', 'score': 11.36}, {'connected_gene': 'MPPED1', 'score': 10.11}, {'connected_gene': 'PNPLA5', 'score': 0.44}]
chr22 GH22I043867 43867921 43868110 0.81 [{'connected_gene': 'EFCAB6', 'score': 19.21}, {'connected_gene': 'PNPLA5', 'score': 11.73}, {'connected_gene': 'PNPLA3', 'score': 10.94}, {'connected_gene': 'SAMM50', 'score': 10.34}, {'connected_gene': 'RPL35AP36', 'score': 10.34}, {'connected_gene': 'SHISAL1', 'score': 9.46}, {'connected_gene': 'SULT4A1', 'score': 6.42}]
chr22 GH22I043811 43811401 43813392 1.94 [{'connected_gene': 'EFCAB6', 'score': 559.45}, {'connected_gene': 'ENSG00000261251', 'score': 550.77}, {'connected_gene': 'PNPLA5', 'score': 6.08}, {'connected_gene': 'SULT4A1', 'score': 5.54}]
chr22 GH22I043862 43862400 43862670 1.66 [{'connected_gene': 'SULT4A1', 'score': 556.7}, {'connected_gene': 'EFCAB6', 'score': 5.94}, {'connected_gene': 'PNPLA5', 'score': 0.31}]
chr22 GH22I043919 43919401 43919990 0.6 [{'connected_gene': 'SULT4A1', 'score': 11.65}, {'connected_gene': 'PNPLA5', 'score': 11.06}, {'connected_gene': 'SAMM50', 'score': 10.84}, {'connected_gene': 'RPL35AP36', 'score': 10.84}, {'connected_gene': 'PNPLA3', 'score': 0.77}]
chr22 GH22I043920 43920654 43922521 0.69 [{'connected_gene': 'SULT4A1', 'score': 11.65}, {'connected_gene': 'PNPLA5', 'score': 11.06}, {'connected_gene': 'SAMM50', 'score': 10.86}, {'connected_gene': 'RPL35AP36', 'score': 10.84}, {'connected_gene': 'PNPLA3', 'score': 0.77}]
chr22 GH22I043915 43915121 43916311 0.54 [{'connected_gene': 'SULT4A1', 'score': 11.66}, {'connected_gene': 'PNPLA5', 'score': 11.09}, {'connected_gene': 'SAMM50', 'score': 10.84}, {'connected_gene': 'RPL35AP36', 'score': 10.82}, {'connected_gene': 'PNPLA3', 'score': 0.44}]
chr22 GH22I043868 43868211 43869537 0.72 [{'connected_gene': 'PNPLA5', 'score': 11.73}, {'connected_gene': 'EFCAB6', 'score': 11.04}, {'connected_gene': 'PNPLA3', 'score': 10.44}, {'connected_gene': 'SHISAL1', 'score': 9.15}, {'connected_gene': 'SULT4A1', 'score': 6.42}]
chr22 GH22I043883 43883201 43883370 0.78 [{'connected_gene': 'PNPLA5', 'score': 0.44}, {'connected_gene': 'SULT4A1', 'score': 0.34}]
chr22 GH22I043890 43890813 43892690 1.27 [{'connected_gene': 'PNPLA5', 'score': 550.77}, {'connected_gene': 'SULT4A1', 'score': 0.31}]

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