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
ENST00000335891 [[51435272, 51436258], [51440576, 51440829], [51449832, 51449934], [51450446, 51450520], [51450735, 51450840], [51451403, 51451497], [51452077, 51452311], [51454240, 51454325], [51455569, 51455652], [51456131, 51456330], [51457187, 51458404], [51475754, 51475913], [51477781, 51477919], [51497129, 51497243], [51500818, 51500892], [51504944, 51505021], [51517734, 51517854]] [[51436199, 51436258], [51440576, 51440829], [51449832, 51449934], [51450446, 51450520], [51450735, 51450840], [51451403, 51451497], [51452077, 51452311], [51454240, 51454325], [51455569, 51455652], [51456131, 51456330], [51457187, 51458404], [51475754, 51475913], [51477781, 51477919], [51497129, 51497243], [51500818, 51500892], [51504944, 51505021], [51517734, 51517844]]
ENST00000504652 [[51474985, 51475087], [51475400, 51475913], [51477781, 51477919], [51497129, 51497243], [51500818, 51500892], [51504944, 51505021], [51517734, 51517852], [51533888, 51534010]] [[51474985, 51475087], [51475400, 51475913], [51477781, 51477919], [51497129, 51497243], [51500818, 51500892], [51504944, 51505021], [51517734, 51517844]]
ENST00000423656 [[51433297, 51434555], [51436165, 51436258], [51440576, 51440829], [51449832, 51449934], [51450446, 51450520], [51450735, 51450840], [51451403, 51451497], [51452077, 51452311], [51454240, 51454325], [51455569, 51455652], [51456131, 51456330], [51457187, 51458451], [51459757, 51459882], [51464822, 51464992], [51466712, 51466922], [51467484, 51467664]] [[51436199, 51436258], [51440576, 51440829], [51449832, 51449934], [51450446, 51450520], [51450735, 51450840], [51451403, 51451497], [51452077, 51452311], [51454240, 51454325], [51455569, 51455652], [51456131, 51456330], [51457187, 51458451], [51459757, 51459882], [51464822, 51464992], [51466712, 51466922], [51467484, 51467664]]
NM_014703 [[51433297, 51434555], [51436165, 51436258], [51440576, 51440829], [51449832, 51449934], [51450446, 51450520], [51450735, 51450840], [51451403, 51451497], [51452077, 51452311], [51454240, 51454325], [51455569, 51455652], [51456131, 51456330], [51457187, 51458451], [51459757, 51459882], [51464822, 51464992], [51466712, 51466922], [51467484, 51467664], [51474985, 51475087], [51475400, 51475913], [51477781, 51477919], [51497129, 51497243], [51500818, 51500892], [51504944, 51505021], [51517734, 51517852], [51530749, 51530796], [51533888, 51534018]] [[51436199, 51436258], [51440576, 51440829], [51449832, 51449934], [51450446, 51450520], [51450735, 51450840], [51451403, 51451497], [51452077, 51452311], [51454240, 51454325], [51455569, 51455652], [51456131, 51456330], [51457187, 51458451], [51459757, 51459882], [51464822, 51464992], [51466712, 51466922], [51467484, 51467664], [51474985, 51475087], [51475400, 51475913], [51477781, 51477919], [51497129, 51497243], [51500818, 51500892], [51504944, 51505021], [51517734, 51517844]]
NM_001171904 [[51433297, 51434555], [51436165, 51436258], [51440576, 51440829], [51449832, 51449934], [51450446, 51450520], [51450735, 51450840], [51451403, 51451497], [51452077, 51452311], [51454240, 51454325], [51455569, 51455652], [51456131, 51456330], [51457187, 51458451], [51459757, 51459882], [51464822, 51464992], [51466712, 51466922], [51467484, 51467664], [51474985, 51475087], [51475400, 51475913], [51477781, 51477919], [51497129, 51497243], [51500821, 51500892], [51504944, 51505021], [51517734, 51517852], [51533888, 51534018]] [[51436199, 51436258], [51440576, 51440829], [51449832, 51449934], [51450446, 51450520], [51450735, 51450840], [51451403, 51451497], [51452077, 51452311], [51454240, 51454325], [51455569, 51455652], [51456131, 51456330], [51457187, 51458451], [51459757, 51459882], [51464822, 51464992], [51466712, 51466922], [51467484, 51467664], [51474985, 51475087], [51475400, 51475913], [51477781, 51477919], [51497129, 51497243], [51500821, 51500892], [51504944, 51505021], [51517734, 51517844]]
Promoter
Chrom Start End Description
chr3 51533966 51534038 CAGE_peak_1_at_VPRBP_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I051472 51472137 51472512 0.33 [{'connected_gene': 'DCAF1', 'score': 12.28}, {'connected_gene': 'RNU6ATAC29P', 'score': 10.84}, {'connected_gene': 'GPR62', 'score': 3.1}, {'connected_gene': 'RAD54L2', 'score': 2.0}, {'connected_gene': 'GC03M051486', 'score': 0.31}, {'connected_gene': 'GC03P051435', 'score': 0.28}]
chr3 GH03I051636 51636924 51638314 0.77 [{'connected_gene': 'DCAF1', 'score': 13.02}, {'connected_gene': 'RNU6ATAC29P', 'score': 12.13}, {'connected_gene': 'GC03P051629', 'score': 0.44}, {'connected_gene': 'LOC105377086', 'score': 0.34}, {'connected_gene': 'RAD54L2', 'score': 0.15}]
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 GH03I050566 50566925 50576881 2.8 [{'connected_gene': 'HEMK1', 'score': 562.7}, {'connected_gene': 'C3orf18', 'score': 553.38}, {'connected_gene': 'CISH', 'score': 38.49}, {'connected_gene': 'RBM5', 'score': 31.53}, {'connected_gene': 'RBM6', 'score': 27.82}, {'connected_gene': 'RAD54L2', 'score': 25.2}, {'connected_gene': 'SEMA3F-AS1', 'score': 23.06}, {'connected_gene': 'MAPKAPK3', 'score': 14.17}, {'connected_gene': 'DOCK3', 'score': 11.02}, {'connected_gene': 'TMEM115', 'score': 10.62}, {'connected_gene': 'DCAF1', 'score': 9.94}, {'connected_gene': 'RASSF1', 'score': 4.27}, {'connected_gene': 'LINC02019', 'score': 3.84}, {'connected_gene': 'NPRL2', 'score': 2.53}, {'connected_gene': 'CYB561D2', 'score': 1.85}]
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 GH03I051684 51684429 51688032 1.2 [{'connected_gene': 'TEX264', 'score': 17.43}, {'connected_gene': 'DCAF1', 'score': 14.53}, {'connected_gene': 'RNU6ATAC29P', 'score': 10.83}, {'connected_gene': 'IQCF6', 'score': 10.19}, {'connected_gene': 'RPL29', 'score': 7.21}, {'connected_gene': 'RNA5SP132', 'score': 0.44}, {'connected_gene': 'PIR41340', 'score': 0.37}]
chr3 GH03I051678 51678935 51682991 1.26 [{'connected_gene': 'IQCF6', 'score': 12.73}, {'connected_gene': 'DCAF1', 'score': 11.49}, {'connected_gene': 'RNU6ATAC29P', 'score': 11.14}, {'connected_gene': 'GPR62', 'score': 2.15}, {'connected_gene': 'IQCF1', 'score': 1.66}, {'connected_gene': 'IQCF5', 'score': 1.64}, {'connected_gene': 'IQCF2', 'score': 1.62}, {'connected_gene': 'RNA5SP132', 'score': 0.39}, {'connected_gene': 'PIR41340', 'score': 0.39}, {'connected_gene': 'TEX264', 'score': 0.37}]
chr3 GH03I050587 50587521 50593625 1.7 [{'connected_gene': 'RAD54L2', 'score': 13.59}, {'connected_gene': 'DCAF1', 'score': 13.43}, {'connected_gene': 'HEMK1', 'score': 10.94}, {'connected_gene': 'TMEM115', 'score': 10.25}, {'connected_gene': 'RBM6', 'score': 9.77}, {'connected_gene': 'RASSF1', 'score': 7.74}, {'connected_gene': 'MAPKAPK3', 'score': 4.56}, {'connected_gene': 'HYAL1', 'score': 4.33}, {'connected_gene': 'DOCK3', 'score': 3.86}, {'connected_gene': 'CISH', 'score': 3.47}, {'connected_gene': 'RBM5', 'score': 2.13}, {'connected_gene': 'CACNA2D2', 'score': 1.62}, {'connected_gene': 'GC03P050587', 'score': 0.77}, {'connected_gene': 'PIR50420', 'score': 0.77}, {'connected_gene': 'ENSG00000280382', 'score': 0.39}]
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 GH03I051537 51537601 51540609 1.57 [{'connected_gene': 'RAD54L2', 'score': 562.19}, {'connected_gene': 'NISCH', 'score': 21.43}, {'connected_gene': 'DCAF1', 'score': 13.75}, {'connected_gene': 'RNU6ATAC29P', 'score': 11.62}, {'connected_gene': 'TEX264', 'score': 6.01}, {'connected_gene': 'GC03P051541', 'score': 0.77}]
chr3 GH03I051024 51024088 51026199 1.21 [{'connected_gene': 'RAD54L2', 'score': 19.36}, {'connected_gene': 'RBM5', 'score': 16.8}, {'connected_gene': 'DOCK3', 'score': 10.23}, {'connected_gene': 'SEMA3F-AS1', 'score': 10.22}, {'connected_gene': 'TEX264', 'score': 9.82}, {'connected_gene': 'DCAF1', 'score': 2.75}, {'connected_gene': 'RBM15B', 'score': 1.21}, {'connected_gene': 'ST13P14', 'score': 0.11}, {'connected_gene': 'GC03M051294', 'score': 0.06}]
chr3 GH03I052044 52044628 52058616 2.78 [{'connected_gene': 'DUSP7', 'score': 561.07}, {'connected_gene': 'DCAF1', 'score': 24.9}, {'connected_gene': 'GPR62', 'score': 23.38}, {'connected_gene': 'RAD54L2', 'score': 19.36}, {'connected_gene': 'PHF7', 'score': 14.38}, {'connected_gene': 'NT5DC2', 'score': 13.65}, {'connected_gene': 'RPL29', 'score': 12.2}, {'connected_gene': 'PCBP4', 'score': 10.99}, {'connected_gene': 'WDR82', 'score': 10.3}, {'connected_gene': 'SFMBT1', 'score': 10.08}, {'connected_gene': 'NISCH', 'score': 9.77}, {'connected_gene': 'TWF2', 'score': 1.92}, {'connected_gene': 'ACY1', 'score': 1.61}, {'connected_gene': 'LOC105377089', 'score': 0.44}]
chr3 GH03I051582 51582185 51582334 0.43 [{'connected_gene': 'RNU6ATAC29P', 'score': 12.98}, {'connected_gene': 'DCAF1', 'score': 10.79}, {'connected_gene': 'MAPKAPK3', 'score': 4.72}, {'connected_gene': 'GC03M051578', 'score': 0.39}, {'connected_gene': 'RAD54L2', 'score': 0.26}, {'connected_gene': 'GC03P051541', 'score': 0.26}]
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}]