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
ENST00000419358 [[51696708, 51696892], [51708286, 51708578], [51718428, 51718483]] [[51708320, 51708578], [51718428, 51718483]]
ENST00000489026 [[51705190, 51705304], [51718428, 51718650], [51733421, 51733590], [51737739, 51738034]] None
ENST00000457573 [[51705221, 51705304], [51706356, 51706408], [51708286, 51708578], [51718428, 51718650], [51733421, 51733590], [51737739, 51738338]] [[51708320, 51708578], [51718428, 51718650], [51733421, 51733590], [51737739, 51738032]]
ENST00000341333 [[51705247, 51705304], [51708286, 51708578], [51718428, 51718650], [51733421, 51733590], [51737739, 51738339]] [[51708320, 51708578], [51718428, 51718650], [51733421, 51733590], [51737739, 51738032]]
ENST00000412249 [[51705253, 51705304], [51706225, 51706317], [51708286, 51708578], [51718428, 51718589]] [[51708320, 51708578], [51718428, 51718589]]
ENST00000425781 [[51705260, 51705304], [51706356, 51706408], [51708286, 51708578], [51718428, 51718623]] [[51708320, 51708578], [51718428, 51718623]]
ENST00000415259 [[51705270, 51706317], [51708286, 51708578], [51718428, 51718650], [51733421, 51733590], [51737739, 51738299]] [[51708320, 51708578], [51718428, 51718650], [51733421, 51733590], [51737739, 51738032]]
ENST00000395057 [[51705289, 51705563], [51708286, 51708578], [51718428, 51718650], [51733421, 51733590], [51737739, 51738337]] [[51708320, 51708578], [51718428, 51718650], [51733421, 51733590], [51737739, 51738032]]
ENST00000416589 [[51705311, 51705347], [51708286, 51708578], [51718428, 51718650], [51733421, 51733590], [51737739, 51738333]] [[51708320, 51708578], [51718428, 51718650], [51733421, 51733590], [51737739, 51738032]]
ENST00000493444 [[51705642, 51705719], [51718428, 51718650], [51733421, 51733590], [51737739, 51737825]] None
ENST00000457927 [[51705843, 51706317], [51708286, 51708578], [51718428, 51718650], [51733421, 51733588]] [[51708320, 51708578], [51718428, 51718650], [51733421, 51733588]]
ENST00000444233 [[51705910, 51706099], [51708286, 51708578], [51718428, 51718650], [51733421, 51733591]] [[51708320, 51708578], [51718428, 51718650], [51733421, 51733591]]
ENST00000483429 [[51708492, 51708578], [51715357, 51715446], [51718428, 51718575]] None
ENST00000463857 [[51715476, 51718650], [51733421, 51733590], [51737739, 51738333]] None
NR_024012 [[51705190, 51705304], [51718428, 51718650], [51733421, 51733590], [51737739, 51738339]] None
NM_001243727 [[51705190, 51705304], [51708286, 51708578], [51733421, 51733590], [51737739, 51738339]] [[51708320, 51708578], [51733421, 51733590], [51737739, 51738032]]
NM_015926 [[51705190, 51705304], [51708286, 51708578], [51718428, 51718650], [51733421, 51733590], [51737739, 51738339]] [[51708320, 51708578], [51718428, 51718650], [51733421, 51733590], [51737739, 51738032]]
NM_001129884 [[51705190, 51705304], [51706356, 51706408], [51708286, 51708578], [51718428, 51718650], [51733421, 51733590], [51737739, 51738339]] [[51708320, 51708578], [51718428, 51718650], [51733421, 51733590], [51737739, 51738032]]
NM_001278195 [[51705190, 51705304], [51706225, 51706317], [51708286, 51708578], [51718428, 51718650], [51733421, 51733590], [51737739, 51738339]] [[51708320, 51708578], [51718428, 51718650], [51733421, 51733590], [51737739, 51738032]]
NM_001243726 [[51705289, 51705347], [51708286, 51708578], [51718428, 51718650], [51733421, 51733590], [51737739, 51738339]] [[51708320, 51708578], [51718428, 51718650], [51733421, 51733590], [51737739, 51738032]]
NM_001243725 [[51705289, 51705563], [51708286, 51708578], [51718428, 51718650], [51733421, 51733590], [51737739, 51738339]] [[51708320, 51708578], [51718428, 51718650], [51733421, 51733590], [51737739, 51738032]]
NR_103463 [[51705642, 51705688], [51718428, 51718650], [51733421, 51733590], [51737739, 51738339]] None
NR_103462 [[51705642, 51705719], [51718428, 51718650], [51733421, 51733590], [51737739, 51738339]] None
Promoter
Chrom Start End Description
chr3 51705222 51705281 CAGE_peak_1_at_TEX264_5end
chr3 51705887 51705911 CAGE_peak_3_at_TEX264_5end
chr3 51715738 51715765 CAGE_peak_2_at_TEX264_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 GH03I052443 52443801 52445400 1.56 [{'connected_gene': 'SEMA3G', 'score': 550.77}, {'connected_gene': 'LOC105377091', 'score': 550.77}, {'connected_gene': 'NISCH', 'score': 12.29}, {'connected_gene': 'RAD54L2', 'score': 11.36}, {'connected_gene': 'PPM1M', 'score': 10.98}, {'connected_gene': 'PBRM1', 'score': 8.14}, {'connected_gene': 'TEX264', 'score': 4.22}]
chr3 GH03I050806 50806090 50807659 0.46 [{'connected_gene': 'HEMK1', 'score': 9.63}, {'connected_gene': 'TEX264', 'score': 9.54}, {'connected_gene': 'GC03M050811', 'score': 0.44}, {'connected_gene': 'ZNF652P1', 'score': 0.37}, {'connected_gene': 'DOCK3', 'score': 0.12}]
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 GH03I051339 51339062 51341982 1.23 [{'connected_gene': 'TEX264', 'score': 17.74}, {'connected_gene': 'PIR61668', 'score': 0.44}, {'connected_gene': 'MANF', 'score': 0.26}, {'connected_gene': 'DOCK3', 'score': 0.03}]
chr3 GH03I051343 51343687 51345373 0.57 [{'connected_gene': 'TEX264', 'score': 11.18}, {'connected_gene': 'PIR61668', 'score': 0.39}, {'connected_gene': 'MANF', 'score': 0.26}, {'connected_gene': 'DOCK3', 'score': 0.03}]
chr3 GH03I051559 51559257 51560194 0.43 [{'connected_gene': 'TEX264', 'score': 14.27}, {'connected_gene': 'RPL29', 'score': 4.13}, {'connected_gene': 'GC03P051541', 'score': 0.37}, {'connected_gene': 'RAD54L2', 'score': 0.34}, {'connected_gene': 'GC03M051578', 'score': 0.28}]
chr3 GH03I051282 51282676 51283714 0.51 [{'connected_gene': 'TEX264', 'score': 7.99}, {'connected_gene': 'PCBP4', 'score': 4.68}, {'connected_gene': 'GC03M051294', 'score': 0.39}, {'connected_gene': 'ST13P14', 'score': 0.05}, {'connected_gene': 'DOCK3', 'score': 0.03}]
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 GH03I051548 51548607 51551334 0.67 [{'connected_gene': 'TEX264', 'score': 5.62}, {'connected_gene': 'GC03P051541', 'score': 0.44}, {'connected_gene': 'RAD54L2', 'score': 0.39}, {'connected_gene': 'GC03M051578', 'score': 0.25}]
chr3 GH03I051567 51567648 51568495 0.66 [{'connected_gene': 'TEX264', 'score': 17.99}, {'connected_gene': 'RNU6ATAC29P', 'score': 11.76}, {'connected_gene': 'RAD54L2', 'score': 0.31}, {'connected_gene': 'GC03P051541', 'score': 0.31}, {'connected_gene': 'GC03M051578', 'score': 0.31}]
chr3 GH03I050926 50926600 50927352 0.38 [{'connected_gene': 'TEX264', 'score': 9.54}, {'connected_gene': 'ST13P14', 'score': 0.25}, {'connected_gene': 'DOCK3', 'score': 0.07}, {'connected_gene': 'GC03M051294', 'score': 0.05}]
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 GH03I050816 50816508 50819379 0.52 [{'connected_gene': 'RAD54L2', 'score': 15.18}, {'connected_gene': 'TEX264', 'score': 9.54}, {'connected_gene': 'HEMK1', 'score': 8.37}, {'connected_gene': 'LINC02019', 'score': 8.18}, {'connected_gene': 'GC03M050811', 'score': 0.77}, {'connected_gene': 'ST13P14', 'score': 0.22}, {'connected_gene': 'DOCK3', 'score': 0.11}]
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 GH03I050978 50978902 50980099 0.81 [{'connected_gene': 'DOCK3', 'score': 10.15}, {'connected_gene': 'HEMK1', 'score': 9.1}, {'connected_gene': 'TEX264', 'score': 6.82}, {'connected_gene': 'ST13P14', 'score': 0.15}, {'connected_gene': 'GC03M051294', 'score': 0.06}]
chr3 GH03I051674 51674812 51675974 0.2 [{'connected_gene': 'RNU6ATAC29P', 'score': 11.15}, {'connected_gene': 'PIR41340', 'score': 0.44}, {'connected_gene': 'TEX264', 'score': 0.39}, {'connected_gene': 'RNA5SP132', 'score': 0.37}]
chr3 GH03I051694 51694504 51694569 0.26 [{'connected_gene': 'RNA5SP132', 'score': 550.77}, {'connected_gene': 'TEX264', 'score': 16.01}, {'connected_gene': 'RNU6ATAC29P', 'score': 10.35}, {'connected_gene': 'PIR41340', 'score': 0.31}]
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}]