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
ENST00000372136 [[135753413, 135753823], [135759297, 135759478], [135762755, 135762958], [135763676, 135765418]] [[135759334, 135759478], [135762755, 135762958], [135763676, 135763998]]
ENST00000356311 [[135754284, 135754401], [135759297, 135759478], [135762755, 135762958], [135763676, 135765418]] [[135759334, 135759478], [135762755, 135762958], [135763676, 135763998]]
ENST00000350499 [[135754284, 135754401], [135759297, 135759478], [135762755, 135762958], [135763676, 135763824], [135765343, 135765588]] [[135759334, 135759478], [135762755, 135762958], [135763676, 135763824], [135765343, 135765355]]
NR_133631 [[135753706, 135753823], [135759297, 135759478], [135763676, 135765419]] None
NM_001316898 [[135753706, 135753823], [135759297, 135759478], [135762755, 135762958], [135763676, 135765419]] [[135759334, 135759478], [135762755, 135762958], [135763676, 135763998]]
NM_001316900 [[135754277, 135754401], [135759297, 135759478], [135762755, 135762958], [135763676, 135763812], [135765343, 135765419]] [[135759334, 135759478], [135762755, 135762958], [135763676, 135763812], [135765343, 135765355]]
NM_018956 [[135754277, 135754401], [135759297, 135759478], [135762755, 135762958], [135763676, 135763824], [135765343, 135765419]] [[135759334, 135759478], [135762755, 135762958], [135763676, 135763824], [135765343, 135765355]]
NM_001316897 [[135754277, 135754401], [135759297, 135759478], [135762755, 135762958], [135763676, 135765419]] [[135759334, 135759478], [135762755, 135762958], [135763676, 135763998]]
Promoter
Chrom Start End Description
chr9 135753701 135753741 CAGE_peak_1_at_C9orf9_5end
chr9 135753744 135753765 CAGE_peak_2_at_C9orf9_5end
chr9 135754263 135754338 CAGE_peak_3_at_C9orf9_5end
chr9 135754339 135754355 CAGE_peak_6_at_C9orf9_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I132794 132794374 132795560 0.75 [{'connected_gene': 'GTF3C4', 'score': 14.87}, {'connected_gene': 'AK8', 'score': 14.61}, {'connected_gene': 'DDX31', 'score': 11.48}, {'connected_gene': 'SURF6', 'score': 10.55}, {'connected_gene': 'TTF1', 'score': 9.9}, {'connected_gene': 'REXO4', 'score': 9.88}, {'connected_gene': 'PIR47443', 'score': 0.37}, {'connected_gene': 'SPACA9', 'score': 0.18}]
chr9 GH09I132798 132798694 132799514 1.02 [{'connected_gene': 'GTF3C5', 'score': 34.68}, {'connected_gene': 'TSC1', 'score': 29.22}, {'connected_gene': 'TTF1', 'score': 22.52}, {'connected_gene': 'GTF3C4', 'score': 19.92}, {'connected_gene': 'DDX31', 'score': 19.63}, {'connected_gene': 'SETX', 'score': 14.28}, {'connected_gene': 'EEF1A1P5', 'score': 11.77}, {'connected_gene': 'MED22', 'score': 11.51}, {'connected_gene': 'RPL7A', 'score': 11.05}, {'connected_gene': 'SURF6', 'score': 9.69}, {'connected_gene': 'AK8', 'score': 6.6}, {'connected_gene': 'PIR47443', 'score': 0.34}, {'connected_gene': 'SPACA9', 'score': 0.18}]
chr9 GH09I133029 133029451 133031962 2.13 [{'connected_gene': 'GTF3C5', 'score': 608.67}, {'connected_gene': 'LOC105376306', 'score': 550.77}, {'connected_gene': 'SETX', 'score': 81.52}, {'connected_gene': 'TTF1', 'score': 54.6}, {'connected_gene': 'MED22', 'score': 49.32}, {'connected_gene': 'DDX31', 'score': 49.04}, {'connected_gene': 'TSC1', 'score': 44.67}, {'connected_gene': 'GTF3C4', 'score': 37.11}, {'connected_gene': 'BRD3OS', 'score': 22.75}, {'connected_gene': 'SPACA9', 'score': 22.0}, {'connected_gene': 'MED27', 'score': 20.93}, {'connected_gene': 'AK8', 'score': 20.7}, {'connected_gene': 'EEF1A1P5', 'score': 19.69}, {'connected_gene': 'SURF6', 'score': 18.56}, {'connected_gene': 'REXO4', 'score': 17.99}, {'connected_gene': 'RPL7A', 'score': 11.8}, {'connected_gene': 'STKLD1', 'score': 10.38}, {'connected_gene': 'RALGDS', 'score': 8.1}, {'connected_gene': 'CEL', 'score': 7.29}, {'connected_gene': 'MIR6877', 'score': 0.34}]
chr9 GH09I132804 132804674 132804823 0.46 [{'connected_gene': 'GFI1B', 'score': 6.26}, {'connected_gene': 'PIR47443', 'score': 0.31}, {'connected_gene': 'SPACA9', 'score': 0.19}, {'connected_gene': 'AK8', 'score': 0.19}]
chr9 GH09I132805 132804852 132805418 0.38 [{'connected_gene': 'GFI1B', 'score': 6.26}, {'connected_gene': 'PIR47443', 'score': 0.31}, {'connected_gene': 'SPACA9', 'score': 0.19}, {'connected_gene': 'AK8', 'score': 0.19}]
chr9 GH09I132825 132825988 132826902 0.2 [{'connected_gene': 'TSC1', 'score': 7.41}, {'connected_gene': 'PIR47443', 'score': 0.25}, {'connected_gene': 'SPACA9', 'score': 0.23}, {'connected_gene': 'AK8', 'score': 0.23}]
chr9 GH09I132928 132928989 132929048 0.5 [{'connected_gene': 'TSC1', 'score': 550.37}, {'connected_gene': 'RPL39P24', 'score': 11.73}, {'connected_gene': 'RNU7-21P', 'score': 11.73}, {'connected_gene': 'SPACA9', 'score': 10.71}, {'connected_gene': 'AK8', 'score': 10.71}, {'connected_gene': 'GFI1B', 'score': 0.39}, {'connected_gene': 'PIR193201', 'score': 0.37}]
chr9 GH09I132531 132531781 132532146 0.39 [{'connected_gene': 'CFAP77', 'score': 12.28}, {'connected_gene': 'SPACA9', 'score': 10.27}, {'connected_gene': 'AK8', 'score': 7.03}, {'connected_gene': 'BARHL1', 'score': 0.23}, {'connected_gene': 'RNU5D-2P', 'score': 0.14}]
chr9 GH09I132793 132793265 132794143 0.43 [{'connected_gene': 'AK8', 'score': 14.15}, {'connected_gene': 'TTF1', 'score': 5.24}, {'connected_gene': 'PIR47443', 'score': 0.37}, {'connected_gene': 'SPACA9', 'score': 0.18}]
chr9 GH09I132787 132787685 132788609 0.67 [{'connected_gene': 'AK8', 'score': 14.23}, {'connected_gene': 'TTF1', 'score': 5.23}, {'connected_gene': 'PIR47443', 'score': 0.39}, {'connected_gene': 'SPACA9', 'score': 0.17}]
chr9 GH09I132780 132780201 132781443 1.01 [{'connected_gene': 'AK8', 'score': 24.69}, {'connected_gene': 'SPACA9', 'score': 10.81}, {'connected_gene': 'RNU5D-2P', 'score': 10.34}, {'connected_gene': 'TTF1', 'score': 5.24}, {'connected_gene': 'PIR47443', 'score': 0.77}]
chr9 GH09I132848 132848600 132849993 1.02 [{'connected_gene': 'AK8', 'score': 24.65}, {'connected_gene': 'SPACA9', 'score': 0.31}, {'connected_gene': 'PIR47443', 'score': 0.19}]
chr9 GH09I132877 132877600 132880749 2.2 [{'connected_gene': 'AK8', 'score': 570.38}, {'connected_gene': 'SPACA9', 'score': 550.77}, {'connected_gene': 'PIR61136', 'score': 0.44}]
chr9 GH09I132855 132855504 132856364 0.31 [{'connected_gene': 'AK8', 'score': 21.57}, {'connected_gene': 'SPACA9', 'score': 6.61}, {'connected_gene': 'PIR47443', 'score': 0.18}]
chr9 GH09I132854 132854555 132855180 0.31 [{'connected_gene': 'AK8', 'score': 8.52}, {'connected_gene': 'SPACA9', 'score': 6.59}, {'connected_gene': 'PIR47443', 'score': 0.18}]
chr9 GH09I132844 132844537 132845261 0.2 [{'connected_gene': 'AK8', 'score': 21.78}, {'connected_gene': 'SPACA9', 'score': 0.29}, {'connected_gene': 'PIR47443', 'score': 0.2}]
chr9 GH09I132817 132817772 132818575 0.2 [{'connected_gene': 'AK8', 'score': 24.97}, {'connected_gene': 'PIR47443', 'score': 0.26}, {'connected_gene': 'SPACA9', 'score': 0.22}]
chr9 GH09I132851 132851201 132851600 0.69 [{'connected_gene': 'AK8', 'score': 8.09}, {'connected_gene': 'SPACA9', 'score': 0.31}, {'connected_gene': 'PIR47443', 'score': 0.19}]
chr9 GH09I132837 132837342 132838070 0.43 [{'connected_gene': 'AK8', 'score': 11.67}, {'connected_gene': 'SPACA9', 'score': 0.26}, {'connected_gene': 'PIR47443', 'score': 0.21}]
chr9 GH09I132845 132845755 132847947 0.43 [{'connected_gene': 'AK8', 'score': 21.54}, {'connected_gene': 'SPACA9', 'score': 0.29}, {'connected_gene': 'PIR47443', 'score': 0.19}]
chr9 GH09I132800 132800001 132800598 1 [{'connected_gene': 'AK8', 'score': 8.63}, {'connected_gene': 'PIR47443', 'score': 0.34}, {'connected_gene': 'SPACA9', 'score': 0.18}]
chr9 GH09I132816 132816589 132817311 0.31 [{'connected_gene': 'DDX31', 'score': 12.03}, {'connected_gene': 'RPL39P24', 'score': 10.58}, {'connected_gene': 'RNU7-21P', 'score': 10.58}, {'connected_gene': 'RNU5D-2P', 'score': 10.0}, {'connected_gene': 'SURF6', 'score': 9.81}, {'connected_gene': 'PIR47443', 'score': 0.26}, {'connected_gene': 'SPACA9', 'score': 0.21}, {'connected_gene': 'AK8', 'score': 0.21}]
chr9 GH09I132807 132806869 132807663 0.54 [{'connected_gene': 'SPACA9', 'score': 11.0}, {'connected_gene': 'AK8', 'score': 11.0}, {'connected_gene': 'GFI1B', 'score': 6.26}, {'connected_gene': 'PIR47443', 'score': 0.29}]
chr9 GH09I132901 132901474 132902258 1 [{'connected_gene': 'SPACA9', 'score': 11.86}, {'connected_gene': 'AK8', 'score': 11.86}, {'connected_gene': 'TSC1', 'score': 11.13}, {'connected_gene': 'PIR193201', 'score': 0.44}, {'connected_gene': 'PIR60978', 'score': 0.39}]
chr9 GH09I132903 132903612 132904131 0.46 [{'connected_gene': 'SPACA9', 'score': 11.83}, {'connected_gene': 'AK8', 'score': 11.83}, {'connected_gene': 'PIR193201', 'score': 0.44}, {'connected_gene': 'PIR60978', 'score': 0.39}, {'connected_gene': 'TSC1', 'score': 0.26}]
chr9 GH09I132744 132744700 132744961 0.8 [{'connected_gene': 'SPACA9', 'score': 10.62}, {'connected_gene': 'AK8', 'score': 10.62}, {'connected_gene': 'RPL39P24', 'score': 10.32}, {'connected_gene': 'RNU7-21P', 'score': 10.32}, {'connected_gene': 'ENSG00000224992', 'score': 0.31}, {'connected_gene': 'GC09M132712', 'score': 0.29}]
chr9 GH09I132857 132857114 132857303 0.72 [{'connected_gene': 'SPACA9', 'score': 0.34}, {'connected_gene': 'AK8', 'score': 0.34}, {'connected_gene': 'PIR47443', 'score': 0.18}]
chr9 GH09I132841 132841891 132842904 0.49 [{'connected_gene': 'SPACA9', 'score': 0.28}, {'connected_gene': 'AK8', 'score': 0.28}, {'connected_gene': 'PIR47443', 'score': 0.2}]
chr9 GH09I132833 132833754 132833903 0.31 [{'connected_gene': 'SPACA9', 'score': 0.26}, {'connected_gene': 'AK8', 'score': 0.26}, {'connected_gene': 'PIR47443', 'score': 0.22}]
chr9 GH09I132864 132864224 132864889 0.49 [{'connected_gene': 'SPACA9', 'score': 0.39}, {'connected_gene': 'AK8', 'score': 0.39}, {'connected_gene': 'PIR47443', 'score': 0.17}]
chr9 GH09I132806 132806131 132806331 0.4 [{'connected_gene': 'SPACA9', 'score': 11.0}, {'connected_gene': 'AK8', 'score': 11.0}, {'connected_gene': 'PIR47443', 'score': 0.31}]
chr9 GH09I132827 132827113 132828190 0.31 [{'connected_gene': 'SPACA9', 'score': 6.37}, {'connected_gene': 'PIR47443', 'score': 0.23}, {'connected_gene': 'AK8', 'score': 0.23}]
chr9 GH09I132860 132860145 132861786 0.2 [{'connected_gene': 'RNU5D-2P', 'score': 9.43}, {'connected_gene': 'SPACA9', 'score': 0.37}, {'connected_gene': 'AK8', 'score': 0.37}, {'connected_gene': 'PIR47443', 'score': 0.18}]
chr9 GH09I132870 132870359 132870600 0.4 [{'connected_gene': 'RNU5D-2P', 'score': 9.84}, {'connected_gene': 'RPL39P24', 'score': 9.69}, {'connected_gene': 'RNU7-21P', 'score': 9.69}, {'connected_gene': 'SPACA9', 'score': 0.44}, {'connected_gene': 'AK8', 'score': 0.44}, {'connected_gene': 'PIR47443', 'score': 0.16}]
chr9 GH09I132882 132882455 132882962 0.31 [{'connected_gene': 'RPL39P24', 'score': 10.45}, {'connected_gene': 'RNU7-21P', 'score': 10.44}, {'connected_gene': 'SPACA9', 'score': 0.77}, {'connected_gene': 'AK8', 'score': 0.77}, {'connected_gene': 'PIR61136', 'score': 0.77}]
chr9 GH09I132908 132908754 132908883 0.31 [{'connected_gene': 'PIR193201', 'score': 550.77}, {'connected_gene': 'AK8', 'score': 19.37}, {'connected_gene': 'SPACA9', 'score': 11.74}, {'connected_gene': 'GFI1B', 'score': 11.53}, {'connected_gene': 'TSC1', 'score': 11.53}, {'connected_gene': 'RPL39P24', 'score': 11.31}, {'connected_gene': 'RNU7-21P', 'score': 11.31}, {'connected_gene': 'PIR60978', 'score': 0.37}]
chr9 GH09I132887 132887203 132888797 0.38 [{'connected_gene': 'PIR61136', 'score': 550.77}, {'connected_gene': 'PIR60978', 'score': 550.77}, {'connected_gene': 'AK8', 'score': 12.03}, {'connected_gene': 'RPL39P24', 'score': 10.43}, {'connected_gene': 'RNU7-21P', 'score': 10.42}, {'connected_gene': 'TSC1', 'score': 10.27}, {'connected_gene': 'GFI1B', 'score': 10.27}, {'connected_gene': 'SPACA9', 'score': 0.44}]
chr9 GH09I132822 132822394 132825266 0.38 [{'connected_gene': 'PIR47443', 'score': 0.25}, {'connected_gene': 'SPACA9', 'score': 0.23}, {'connected_gene': 'AK8', 'score': 0.23}]
chr9 GH09I132789 132789466 132790376 0.64 [{'connected_gene': 'PIR47443', 'score': 0.39}, {'connected_gene': 'SPACA9', 'score': 0.17}, {'connected_gene': 'AK8', 'score': 0.17}]
chr9 GH09I132799 132798374 132798523 0.31 [{'connected_gene': 'PIR47443', 'score': 0.34}, {'connected_gene': 'SPACA9', 'score': 0.18}, {'connected_gene': 'AK8', 'score': 0.18}]
chr9 GH09I132889 132889584 132890473 0.2 [{'connected_gene': 'PIR60978', 'score': 550.77}, {'connected_gene': 'RPL39P24', 'score': 10.43}, {'connected_gene': 'RNU7-21P', 'score': 10.43}, {'connected_gene': 'GFI1B', 'score': 10.28}, {'connected_gene': 'TSC1', 'score': 10.27}, {'connected_gene': 'AK8', 'score': 8.41}, {'connected_gene': 'SPACA9', 'score': 5.1}, {'connected_gene': 'PIR193201', 'score': 0.34}]
chr9 GH09I132888 132888999 132889346 0.63 [{'connected_gene': 'PIR61136', 'score': 550.77}, {'connected_gene': 'PIR60978', 'score': 550.77}, {'connected_gene': 'RPL39P24', 'score': 10.43}, {'connected_gene': 'RNU7-21P', 'score': 10.43}, {'connected_gene': 'GFI1B', 'score': 10.28}, {'connected_gene': 'TSC1', 'score': 10.27}, {'connected_gene': 'SPACA9', 'score': 0.39}, {'connected_gene': 'PIR193201', 'score': 0.34}]
chr9 GH09I132885 132885690 132886645 0.79 [{'connected_gene': 'PIR61136', 'score': 550.77}, {'connected_gene': 'RPL39P24', 'score': 10.45}, {'connected_gene': 'RNU7-21P', 'score': 10.45}, {'connected_gene': 'TSC1', 'score': 10.27}, {'connected_gene': 'GFI1B', 'score': 10.27}, {'connected_gene': 'SPACA9', 'score': 0.44}, {'connected_gene': 'AK8', 'score': 0.44}]

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