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
ENST00000241261 [[172223297, 172224709], [172227006, 172227111], [172229406, 172229449], [172232650, 172232788], [172241042, 172241297]] [[172224281, 172224709], [172227006, 172227111], [172229406, 172229449], [172232650, 172232788], [172241042, 172241174]]
ENST00000420541 [[172223451, 172224709], [172232650, 172232788], [172241042, 172241265]] [[172224673, 172224709], [172232650, 172232788], [172241042, 172241174]]
ENST00000430881 [[172225073, 172225239], [172227006, 172227111], [172232650, 172232788], [172241042, 172241100]] [[172227084, 172227111], [172232650, 172232788], [172241042, 172241100]]
ENST00000494851 [[172226935, 172227111], [172229406, 172229449], [172232650, 172232788], [172241042, 172241257]] None
ENST00000472804 [[172229234, 172229449], [172232650, 172232788], [172241042, 172241255]] None
ENST00000466777 [[172235144, 172236255], [172241042, 172241257]] None
NM_003810 [[172223297, 172224709], [172227006, 172227111], [172229406, 172229449], [172232650, 172232788], [172241042, 172241297]] [[172224281, 172224709], [172227006, 172227111], [172229406, 172229449], [172232650, 172232788], [172241042, 172241174]]
NR_033994 [[172223297, 172224709], [172227006, 172227111], [172232650, 172232788], [172241042, 172241297]] None
NM_001190942 [[172223297, 172224709], [172232650, 172232788], [172241042, 172241297]] [[172224673, 172224709], [172232650, 172232788], [172241042, 172241174]]
NM_001190943 [[172235144, 172236255], [172241042, 172241265]] [[172236189, 172236255], [172241042, 172241174]]
Promoter
Chrom Start End Description
chr3 172241213 172241228 CAGE_peak_1_at_TNFSF10_5end
chr3 172241250 172241274 CAGE_peak_2_at_TNFSF10_5end
chr3 172241584 172241601 CAGE_peak_3_at_TNFSF10_5end
chr3 172241607 172241615 CAGE_peak_4_at_TNFSF10_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I172514 172514498 172518723 1.38 [{'connected_gene': 'TNFSF10', 'score': 2.2}, {'connected_gene': 'FNDC3B', 'score': 1.35}, {'connected_gene': 'LOC100856791', 'score': 0.44}, {'connected_gene': 'GC03P172523', 'score': 0.44}, {'connected_gene': 'GHSR', 'score': 0.2}]
chr3 GH03I172600 172600112 172603011 0.96 [{'connected_gene': 'TNFSF10', 'score': 11.8}, {'connected_gene': 'GHSR', 'score': 10.94}, {'connected_gene': 'GC03M172603', 'score': 0.77}, {'connected_gene': 'SLC31A1P1', 'score': 0.77}, {'connected_gene': 'LINC02068', 'score': 0.44}]
chr3 GH03I172606 172606880 172608828 1.26 [{'connected_gene': 'TNFSF10', 'score': 11.65}, {'connected_gene': 'GHSR', 'score': 11.05}, {'connected_gene': 'SLC31A1P1', 'score': 0.77}, {'connected_gene': 'PIR41392', 'score': 0.22}]
chr3 GH03I172607 172606200 172606401 0.38 [{'connected_gene': 'TNFSF10', 'score': 11.65}, {'connected_gene': 'GHSR', 'score': 11.05}, {'connected_gene': 'SLC31A1P1', 'score': 0.77}, {'connected_gene': 'PIR41392', 'score': 0.21}]
chr3 GH03I172476 172476402 172478197 1.04 [{'connected_gene': 'TNFSF10', 'score': 11.93}, {'connected_gene': 'GHSR', 'score': 11.74}, {'connected_gene': 'RNU6-547P', 'score': 9.61}, {'connected_gene': 'LOC100856791', 'score': 0.26}, {'connected_gene': 'GC03P172523', 'score': 0.26}]
chr3 GH03I172586 172586443 172586805 1.11 [{'connected_gene': 'TNFSF10', 'score': 13.79}, {'connected_gene': 'GHSR', 'score': 10.07}, {'connected_gene': 'LINC02068', 'score': 0.44}]
chr3 GH03I172490 172490251 172490400 0.86 [{'connected_gene': 'TNFSF10', 'score': 12.31}, {'connected_gene': 'GHSR', 'score': 11.99}, {'connected_gene': 'LOC100856791', 'score': 0.29}, {'connected_gene': 'GC03P172523', 'score': 0.29}]
chr3 GH03I172466 172466890 172467850 0.89 [{'connected_gene': 'TNFSF10', 'score': 10.71}, {'connected_gene': 'GHSR', 'score': 0.37}, {'connected_gene': 'LOC100856791', 'score': 0.23}, {'connected_gene': 'GC03P172523', 'score': 0.23}]
chr3 GH03I172536 172536257 172538287 1.12 [{'connected_gene': 'TNFSF10', 'score': 0.39}, {'connected_gene': 'LINC02068', 'score': 0.22}]
chr3 GH03I172547 172547936 172549767 0.91 [{'connected_gene': 'TNFSF10', 'score': 0.31}, {'connected_gene': 'LINC02068', 'score': 0.25}]
chr3 GH03I172541 172541095 172542000 1.32 [{'connected_gene': 'TNFSF10', 'score': 0.37}, {'connected_gene': 'LINC02068', 'score': 0.23}]
chr3 GH03I172577 172577935 172578446 0.51 [{'connected_gene': 'TNFSF10', 'score': 12.11}, {'connected_gene': 'LINC02068', 'score': 0.37}]
chr3 GH03I172579 172579426 172581399 1.26 [{'connected_gene': 'TNFSF10', 'score': 13.36}, {'connected_gene': 'LINC02068', 'score': 0.37}]
chr3 GH03I172557 172557400 172557601 0.76 [{'connected_gene': 'TNFSF10', 'score': 0.29}, {'connected_gene': 'LINC02068', 'score': 0.28}]
chr3 GH03I172532 172532123 172533333 0.2 [{'connected_gene': 'TNFSF10', 'score': 0.44}, {'connected_gene': 'LINC02068', 'score': 0.21}]
chr3 GH03I172533 172533459 172535827 0.31 [{'connected_gene': 'TNFSF10', 'score': 0.39}, {'connected_gene': 'LINC02068', 'score': 0.21}]
chr3 GH03I172528 172528308 172528990 0.2 [{'connected_gene': 'TNFSF10', 'score': 0.44}, {'connected_gene': 'LINC02068', 'score': 0.2}]
chr3 GH03I172549 172549900 172549937 0.58 [{'connected_gene': 'TNFSF10', 'score': 0.31}, {'connected_gene': 'LINC02068', 'score': 0.25}]
chr3 GH03I172550 172549955 172551568 1.14 [{'connected_gene': 'TNFSF10', 'score': 0.31}, {'connected_gene': 'LINC02068', 'score': 0.26}]
chr3 GH03I172530 172530355 172531225 1.25 [{'connected_gene': 'TNFSF10', 'score': 0.44}, {'connected_gene': 'LINC02068', 'score': 0.21}]
chr3 GH03I172539 172539810 172540877 0.43 [{'connected_gene': 'TNFSF10', 'score': 0.37}, {'connected_gene': 'LINC02068', 'score': 0.22}]
chr3 GH03I172568 172568601 172569400 0.67 [{'connected_gene': 'TNFSF10', 'score': 12.22}, {'connected_gene': 'LINC02068', 'score': 0.31}]
chr3 GH03I172552 172552064 172555484 1.11 [{'connected_gene': 'TNFSF10', 'score': 21.69}, {'connected_gene': 'LINC02068', 'score': 0.26}]
chr3 GH03I172545 172545827 172547664 1.21 [{'connected_gene': 'TNFSF10', 'score': 0.34}, {'connected_gene': 'LINC02068', 'score': 0.25}]
chr3 GH03I172561 172561396 172564414 1.53 [{'connected_gene': 'TNFSF10', 'score': 1.37}, {'connected_gene': 'LINC02068', 'score': 0.29}]
chr3 GH03I172543 172542289 172542665 0.63 [{'connected_gene': 'TNFSF10', 'score': 0.37}, {'connected_gene': 'LINC02068', 'score': 0.23}]
chr3 GH03I172542 172542820 172544847 0.46 [{'connected_gene': 'TNFSF10', 'score': 0.34}, {'connected_gene': 'LINC02068', 'score': 0.23}]
chr3 GH03I172582 172582390 172583506 0.51 [{'connected_gene': 'TNFSF10', 'score': 12.1}, {'connected_gene': 'LINC02068', 'score': 0.39}]
chr3 GH03I172527 172527125 172528078 0.2 [{'connected_gene': 'TNFSF10', 'score': 0.77}, {'connected_gene': 'LINC02068', 'score': 0.2}]
chr3 GH03I172511 172511482 172514477 1.57 [{'connected_gene': 'FNDC3B', 'score': 3.58}, {'connected_gene': 'TNFSF10', 'score': 2.01}, {'connected_gene': 'LOC100856791', 'score': 0.44}, {'connected_gene': 'GC03P172523', 'score': 0.44}, {'connected_gene': 'GHSR', 'score': 0.21}]
chr3 GH03I172590 172590672 172597023 1.9 [{'connected_gene': 'LINC02068', 'score': 557.05}, {'connected_gene': 'TNFSF10', 'score': 12.74}, {'connected_gene': 'GHSR', 'score': 10.66}]
chr3 GH03I172558 172558996 172559361 0.46 [{'connected_gene': 'LINC02068', 'score': 0.28}, {'connected_gene': 'TNFSF10', 'score': 0.28}]
chr3 GH03I172559 172559542 172561367 0.89 [{'connected_gene': 'LINC02068', 'score': 0.28}, {'connected_gene': 'TNFSF10', 'score': 0.28}]
chr3 GH03I172508 172508915 172509833 0.2 [{'connected_gene': 'LOC100856791', 'score': 0.39}, {'connected_gene': 'GC03P172523', 'score': 0.39}, {'connected_gene': 'TNFSF10', 'score': 0.39}, {'connected_gene': 'GHSR', 'score': 0.21}]
chr3 GH03I172519 172519702 172525195 2.06 [{'connected_gene': 'LOC100856791', 'score': 550.77}, {'connected_gene': 'GC03P172523', 'score': 550.77}, {'connected_gene': 'TNFSF10', 'score': 550.77}]