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
ENST00000395052 [[51741085, 51741183], [51742863, 51743449], [51746488, 51747326], [51749077, 51750153], [51751652, 51751833], [51752054, 51752426]] [[51742999, 51743449], [51746488, 51747326], [51749077, 51750153], [51751652, 51751833], [51752054, 51752128]]
ENST00000296479 [[51741103, 51741183], [51742863, 51743449], [51746488, 51747326], [51747979, 51748137], [51749077, 51750153], [51751652, 51751833], [51752054, 51752128]] [[51742999, 51743449], [51746488, 51747326], [51747979, 51747999]]
ENST00000475478 [[51741105, 51741183], [51749077, 51750153], [51751652, 51751833], [51752054, 51752629]] None
ENST00000464585 [[51741320, 51743449], [51746488, 51750153], [51751652, 51751833], [51752054, 51752629]] None
ENST00000419928 [[51741426, 51741670], [51742863, 51743209]] [[51742999, 51743209]]
ENST00000442933 [[51742860, 51743449], [51746488, 51747326], [51749077, 51749199], [51750033, 51750153], [51751652, 51751833], [51752054, 51752268]] [[51742999, 51743449], [51746488, 51747326], [51749077, 51749199], [51750033, 51750153], [51751652, 51751833], [51752054, 51752128]]
ENST00000477330 [[51745287, 51745735], [51746488, 51746597]] None
ENST00000496661 [[51745287, 51745735], [51746488, 51747326], [51747979, 51748084]] None
NM_001130063 [[51741080, 51741183], [51749077, 51750153], [51751652, 51751833], [51752054, 51752629]] [[51749643, 51750153], [51751652, 51751833], [51752054, 51752128]]
NM_000839 [[51741080, 51741183], [51742863, 51743449], [51746488, 51747326], [51749077, 51750153], [51751652, 51751833], [51752054, 51752629]] [[51742999, 51743449], [51746488, 51747326], [51749077, 51750153], [51751652, 51751833], [51752054, 51752128]]
Promoter
Chrom Start End Description
chr3 51741072 51741106 CAGE_peak_1_at_GRM2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I051383 51383446 51392956 2.28 [{'connected_gene': 'MANF', 'score': 550.77}, {'connected_gene': 'RBM15B', 'score': 550.77}, {'connected_gene': 'PIR60056', 'score': 550.77}, {'connected_gene': 'DCAF1', 'score': 39.36}, {'connected_gene': 'RRP9', 'score': 17.48}, {'connected_gene': 'RAD54L2', 'score': 13.43}, {'connected_gene': 'TEX264', 'score': 9.71}, {'connected_gene': 'GRM2', 'score': 5.92}, {'connected_gene': 'CACNA2D2', 'score': 5.51}, {'connected_gene': 'GPR62', 'score': 4.66}, {'connected_gene': 'PCBP4', 'score': 4.5}, {'connected_gene': 'PIR52841', 'score': 0.77}, {'connected_gene': 'GC03P051392', 'score': 0.77}, {'connected_gene': 'PIR58843', 'score': 0.77}, {'connected_gene': 'PIR33911', 'score': 0.77}, {'connected_gene': 'DOCK3', 'score': 0.03}]
chr3 GH03I051668 51668805 51672915 2.02 [{'connected_gene': 'TEX264', 'score': 570.41}, {'connected_gene': 'DCAF1', 'score': 25.81}, {'connected_gene': 'RRP9', 'score': 11.15}, {'connected_gene': 'RNU6ATAC29P', 'score': 11.06}, {'connected_gene': 'RBM15B', 'score': 10.07}, {'connected_gene': 'RAD54L2', 'score': 10.01}, {'connected_gene': 'DOCK3', 'score': 5.68}, {'connected_gene': 'GRM2', 'score': 5.04}, {'connected_gene': 'PIR41340', 'score': 0.77}, {'connected_gene': 'RNA5SP132', 'score': 0.34}]
chr3 GH03I051621 51621201 51622617 0.98 [{'connected_gene': 'TEX264', 'score': 13.77}, {'connected_gene': 'GRM2', 'score': 5.74}, {'connected_gene': 'GC03P051614', 'score': 0.44}, {'connected_gene': 'GC03P051629', 'score': 0.44}, {'connected_gene': 'RAD54L2', 'score': 0.18}]
chr3 GH03I051355 51355777 51357707 0.52 [{'connected_gene': 'GRM2', 'score': 4.69}, {'connected_gene': 'MANF', 'score': 0.31}, {'connected_gene': 'PIR61668', 'score': 0.31}, {'connected_gene': 'DOCK3', 'score': 0.03}]
chr3 GH03I051706 51706845 51706974 0.83 [{'connected_gene': 'GRM2', 'score': 554.94}, {'connected_gene': 'RNA5SP132', 'score': 0.39}]
chr3 GH03I051707 51707000 51707201 1.6 [{'connected_gene': 'GRM2', 'score': 550.77}, {'connected_gene': 'PIR59646', 'score': 0.44}]
chr3 GH03I051398 51398335 51399990 0.49 [{'connected_gene': 'RAD54L2', 'score': 16.52}, {'connected_gene': 'GRM2', 'score': 4.68}, {'connected_gene': 'PIR51350', 'score': 0.77}, {'connected_gene': 'PIR34561', 'score': 0.34}, {'connected_gene': 'DCAF1', 'score': 0.14}]
chr3 GH03I050737 50737710 50738195 0.2 [{'connected_gene': 'DOCK3', 'score': 10.09}, {'connected_gene': 'LINC02019', 'score': 8.43}, {'connected_gene': 'GRM2', 'score': 4.46}, {'connected_gene': 'ENSG00000213587', 'score': 0.37}, {'connected_gene': 'ZNF652P1', 'score': 0.23}]
chr3 GH03I051498 51498462 51502314 2.26 [{'connected_gene': 'GC03M051486', 'score': 550.77}, {'connected_gene': 'DCAF1', 'score': 550.44}, {'connected_gene': 'RNU6ATAC29P', 'score': 11.79}, {'connected_gene': 'RRP9', 'score': 11.13}, {'connected_gene': 'HEMK1', 'score': 9.68}, {'connected_gene': 'DOCK3', 'score': 8.61}, {'connected_gene': 'GRM2', 'score': 4.73}]
chr3 GH03I051394 51394928 51396997 0.52 [{'connected_gene': 'PIR51350', 'score': 550.77}, {'connected_gene': 'TEX264', 'score': 18.66}, {'connected_gene': 'RAD54L2', 'score': 14.41}, {'connected_gene': 'GRM2', 'score': 5.63}, {'connected_gene': 'RBM15B', 'score': 0.77}, {'connected_gene': 'GC03P051392', 'score': 0.77}, {'connected_gene': 'PIR52841', 'score': 0.77}, {'connected_gene': 'DCAF1', 'score': 0.14}]