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
ENST00000254508 [[13357736, 13359281], [13360571, 13360655], [13360729, 13360825], [13361262, 13361479], [13363084, 13363335], [13363692, 13363839], [13364808, 13364932], [13367294, 13367431], [13368716, 13368937], [13370270, 13370446], [13371959, 13372134], [13373792, 13373884], [13376953, 13377112], [13378286, 13378418], [13379336, 13379417], [13381353, 13381533], [13381735, 13381798], [13383247, 13383383], [13383495, 13383623], [13384674, 13384803], [13393378, 13393480], [13393579, 13393684], [13395053, 13395160], [13395414, 13395607], [13399721, 13399895], [13401769, 13401991], [13407445, 13407591], [13413333, 13413532], [13415217, 13415373], [13417003, 13417141], [13417790, 13417931], [13418955, 13419062], [13420411, 13420480], [13421062, 13421221], [13427774, 13427907], [13429802, 13429953], [13432710, 13432807], [13438856, 13438988], [13441224, 13441361], [13461559, 13461809]] [[13359180, 13359281], [13360571, 13360655], [13360729, 13360825], [13361262, 13361479], [13363084, 13363335], [13363692, 13363839], [13364808, 13364932], [13367294, 13367431], [13368716, 13368937], [13370270, 13370446], [13371959, 13372134], [13373792, 13373884], [13376953, 13377112], [13378286, 13378418], [13379336, 13379417], [13381353, 13381533], [13381735, 13381798], [13383247, 13383383], [13383495, 13383623], [13384674, 13384803], [13393378, 13393480], [13393579, 13393684], [13395053, 13395160], [13395414, 13395607], [13399721, 13399895], [13401769, 13401991], [13407445, 13407591], [13413333, 13413532], [13415217, 13415373], [13417003, 13417141], [13417790, 13417931], [13418955, 13419062], [13420411, 13420480], [13421062, 13421221], [13427774, 13427907], [13429802, 13429953], [13432710, 13432807], [13438856, 13438988], [13441224, 13441361], [13461559, 13461726]]
ENST00000485755 [[13378308, 13378529], [13381353, 13381533], [13382568, 13382641]] None
ENST00000479519 [[13393160, 13393480], [13393579, 13393684], [13395053, 13395160], [13395414, 13396194]] None
ENST00000420141 [[13393162, 13393480], [13393579, 13393684], [13395053, 13395160], [13395414, 13395607], [13399721, 13399895], [13401769, 13401991], [13407445, 13407591], [13413333, 13413532], [13415217, 13415373], [13417003, 13417141], [13417790, 13417931], [13418955, 13419062], [13420411, 13420480], [13421062, 13421221], [13427774, 13427907], [13429802, 13429953], [13432710, 13432807], [13438856, 13438988], [13441224, 13441361], [13461559, 13461809]] None
NM_024923 [[13357729, 13359281], [13360571, 13360655], [13360729, 13360825], [13361262, 13361479], [13363084, 13363335], [13363692, 13363839], [13364808, 13364932], [13367294, 13367431], [13368716, 13368937], [13370270, 13370446], [13371959, 13372134], [13373792, 13373884], [13376953, 13377112], [13378286, 13378418], [13379336, 13379417], [13381353, 13381533], [13381735, 13381798], [13383247, 13383383], [13383495, 13383623], [13384674, 13384803], [13393378, 13393480], [13393579, 13393684], [13395053, 13395160], [13395414, 13395607], [13399721, 13399895], [13401769, 13401991], [13407445, 13407591], [13413333, 13413532], [13415217, 13415373], [13417003, 13417141], [13417790, 13417931], [13418955, 13419062], [13420411, 13420480], [13421062, 13421221], [13427774, 13427907], [13429802, 13429953], [13432710, 13432807], [13438856, 13438988], [13441224, 13441361], [13461559, 13461819]] [[13359180, 13359281], [13360571, 13360655], [13360729, 13360825], [13361262, 13361479], [13363084, 13363335], [13363692, 13363839], [13364808, 13364932], [13367294, 13367431], [13368716, 13368937], [13370270, 13370446], [13371959, 13372134], [13373792, 13373884], [13376953, 13377112], [13378286, 13378418], [13379336, 13379417], [13381353, 13381533], [13381735, 13381798], [13383247, 13383383], [13383495, 13383623], [13384674, 13384803], [13393378, 13393480], [13393579, 13393684], [13395053, 13395160], [13395414, 13395607], [13399721, 13399895], [13401769, 13401991], [13407445, 13407591], [13413333, 13413532], [13415217, 13415373], [13417003, 13417141], [13417790, 13417931], [13418955, 13419062], [13420411, 13420480], [13421062, 13421221], [13427774, 13427907], [13429802, 13429953], [13432710, 13432807], [13438856, 13438988], [13441224, 13441361], [13461559, 13461726]]
Promoter
Chrom Start End Description
chr3 13369325 13369334 CAGE_peak_6_at_NUP210_5end
chr3 13461724 13461800 CAGE_peak_1_at_NUP210_5end
chr3 13461807 13461857 CAGE_peak_2_at_NUP210_5end
chr3 13461881 13461895 CAGE_peak_3_at_NUP210_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I013001 13001830 13024396 1.72 [{'connected_gene': 'IQSEC1', 'score': 22.36}, {'connected_gene': 'HDAC11', 'score': 10.09}, {'connected_gene': 'HDAC11-AS1', 'score': 10.09}, {'connected_gene': 'CAND2', 'score': 4.33}, {'connected_gene': 'NUP210', 'score': 1.69}, {'connected_gene': 'RPL32', 'score': 1.26}, {'connected_gene': 'GC03P013026', 'score': 0.44}, {'connected_gene': 'GC03P013027', 'score': 0.39}, {'connected_gene': 'GC03M014446', 'score': 0.15}, {'connected_gene': 'PIR41577', 'score': 0.15}]
chr3 GH03I012918 12918909 12930465 0.6 [{'connected_gene': 'IQSEC1', 'score': 10.95}, {'connected_gene': 'TMEM40', 'score': 5.52}, {'connected_gene': 'NUP210', 'score': 4.62}, {'connected_gene': 'GC03M014446', 'score': 0.44}, {'connected_gene': 'PIR41577', 'score': 0.44}, {'connected_gene': 'LOC105376956', 'score': 0.25}, {'connected_gene': 'GC03P013026', 'score': 0.15}]
chr3 GH03I013108 13108549 13113255 1.35 [{'connected_gene': 'IQSEC1', 'score': 16.03}, {'connected_gene': 'MKRN2', 'score': 5.08}, {'connected_gene': 'RPL32', 'score': 2.75}, {'connected_gene': 'NUP210', 'score': 1.46}, {'connected_gene': 'GC03P013114', 'score': 0.77}, {'connected_gene': 'GC03M014471', 'score': 0.29}, {'connected_gene': 'GC03P013057', 'score': 0.23}, {'connected_gene': 'GC03P013026', 'score': 0.17}, {'connected_gene': 'GC03P013027', 'score': 0.17}]
chr3 GH03I013068 13068679 13074301 2 [{'connected_gene': 'IQSEC1', 'score': 557.93}, {'connected_gene': 'NUP210', 'score': 2.24}, {'connected_gene': 'PIR31465', 'score': 0.77}, {'connected_gene': 'GC03P013057', 'score': 0.39}, {'connected_gene': 'GC03P013026', 'score': 0.25}, {'connected_gene': 'GC03P013027', 'score': 0.25}]
chr3 GH03I013343 13343761 13343910 0.63 [{'connected_gene': 'IQSEC1', 'score': 0.21}, {'connected_gene': 'NUP210', 'score': 0.18}, {'connected_gene': 'GC03M014473', 'score': 0.12}]
chr3 GH03I013344 13344088 13344493 0.2 [{'connected_gene': 'IQSEC1', 'score': 0.21}, {'connected_gene': 'NUP210', 'score': 0.18}, {'connected_gene': 'GC03M014473', 'score': 0.12}]
chr3 GH03I012482 12482460 12485811 2.04 [{'connected_gene': 'TSEN2', 'score': 575.67}, {'connected_gene': 'VGLL4', 'score': 22.77}, {'connected_gene': 'TAMM41', 'score': 20.69}, {'connected_gene': 'RPL32', 'score': 9.77}, {'connected_gene': 'TIMP4', 'score': 9.48}, {'connected_gene': 'SYN2', 'score': 9.47}, {'connected_gene': 'MKRN2', 'score': 9.35}, {'connected_gene': 'NUP210', 'score': 4.54}, {'connected_gene': 'GC03P012458', 'score': 0.31}, {'connected_gene': 'GC03P012338', 'score': 0.11}]
chr3 GH03I013411 13411335 13411581 0.64 [{'connected_gene': 'HDAC11', 'score': 2.55}, {'connected_gene': 'IQSEC1', 'score': 1.33}, {'connected_gene': 'NUP210', 'score': 0.44}, {'connected_gene': 'GC03M014473', 'score': 0.2}]
chr3 GH03I012439 12439068 12447058 1.15 [{'connected_gene': 'PPARG', 'score': 16.33}, {'connected_gene': 'SYN2', 'score': 15.85}, {'connected_gene': 'TIMP4', 'score': 10.77}, {'connected_gene': 'MKRN2', 'score': 5.47}, {'connected_gene': 'NUP210', 'score': 4.4}, {'connected_gene': 'RAF1', 'score': 4.18}, {'connected_gene': 'GC03P012458', 'score': 0.37}, {'connected_gene': 'GC03P012338', 'score': 0.15}]
chr3 GH03I013399 13399241 13401110 0.31 [{'connected_gene': 'NUP210', 'score': 9.09}, {'connected_gene': 'GC03M014473', 'score': 0.18}, {'connected_gene': 'IQSEC1', 'score': 0.13}]
chr3 GH03I013384 13384463 13389989 0.43 [{'connected_gene': 'NUP210', 'score': 8.18}, {'connected_gene': 'GC03M014473', 'score': 0.16}, {'connected_gene': 'IQSEC1', 'score': 0.15}]
chr3 GH03I013346 13346077 13350323 1.03 [{'connected_gene': 'NUP210', 'score': 8.86}, {'connected_gene': 'IQSEC1', 'score': 0.2}, {'connected_gene': 'GC03M014473', 'score': 0.12}]
chr3 GH03I013329 13329490 13330683 0.49 [{'connected_gene': 'NUP210', 'score': 20.32}, {'connected_gene': 'IQSEC1', 'score': 7.58}, {'connected_gene': 'GC03M014473', 'score': 0.11}]
chr3 GH03I013331 13331381 13333690 0.96 [{'connected_gene': 'NUP210', 'score': 20.86}, {'connected_gene': 'IQSEC1', 'score': 0.25}, {'connected_gene': 'GC03M014473', 'score': 0.11}]
chr3 GH03I013301 13301082 13302312 1 [{'connected_gene': 'NUP210', 'score': 4.64}, {'connected_gene': 'IQSEC1', 'score': 0.37}]
chr3 GH03I013378 13378841 13380237 0.58 [{'connected_gene': 'NUP210', 'score': 8.27}, {'connected_gene': 'IQSEC1', 'score': 7.47}, {'connected_gene': 'GC03M014473', 'score': 0.15}]
chr3 GH03I013396 13396643 13398320 0.43 [{'connected_gene': 'NUP210', 'score': 9.46}, {'connected_gene': 'GC03M014473', 'score': 0.18}, {'connected_gene': 'IQSEC1', 'score': 0.14}]
chr3 GH03I013334 13334908 13336546 0.38 [{'connected_gene': 'NUP210', 'score': 18.74}, {'connected_gene': 'IQSEC1', 'score': 0.23}, {'connected_gene': 'GC03M014473', 'score': 0.11}]
chr3 GH03I013337 13337426 13339916 0.52 [{'connected_gene': 'NUP210', 'score': 8.85}, {'connected_gene': 'IQSEC1', 'score': 0.22}, {'connected_gene': 'GC03M014473', 'score': 0.11}]
chr3 GH03I013361 13361219 13361922 0.31 [{'connected_gene': 'NUP210', 'score': 8.89}, {'connected_gene': 'IQSEC1', 'score': 0.18}, {'connected_gene': 'GC03M014473', 'score': 0.13}]
chr3 GH03I013390 13390588 13395353 0.88 [{'connected_gene': 'NUP210', 'score': 7.98}, {'connected_gene': 'GC03M014473', 'score': 0.17}, {'connected_gene': 'IQSEC1', 'score': 0.14}]
chr3 GH03I013363 13363771 13366290 0.9 [{'connected_gene': 'NUP210', 'score': 21.14}, {'connected_gene': 'IQSEC1', 'score': 10.45}, {'connected_gene': 'GC03M014473', 'score': 0.14}]
chr3 GH03I013395 13395474 13396363 0.2 [{'connected_gene': 'NUP210', 'score': 7.37}, {'connected_gene': 'GC03M014473', 'score': 0.18}, {'connected_gene': 'IQSEC1', 'score': 0.14}]
chr3 GH03I013351 13351975 13354373 1.11 [{'connected_gene': 'NUP210', 'score': 20.57}, {'connected_gene': 'HDAC11', 'score': 10.61}, {'connected_gene': 'HDAC11-AS1', 'score': 10.61}, {'connected_gene': 'IQSEC1', 'score': 0.19}, {'connected_gene': 'GC03M014473', 'score': 0.13}]
chr3 GH03I013356 13356866 13358016 0.31 [{'connected_gene': 'NUP210', 'score': 19.86}, {'connected_gene': 'HDAC11', 'score': 10.86}, {'connected_gene': 'HDAC11-AS1', 'score': 10.86}, {'connected_gene': 'IQSEC1', 'score': 0.19}, {'connected_gene': 'GC03M014473', 'score': 0.13}]
chr3 GH03I013412 13412651 13422690 2.54 [{'connected_gene': 'NUP210', 'score': 562.58}, {'connected_gene': 'ENSG00000228242', 'score': 18.79}, {'connected_gene': 'XPC', 'score': 11.97}, {'connected_gene': 'IQSEC1', 'score': 7.39}, {'connected_gene': 'GC03M014473', 'score': 0.21}]
chr3 GH03I012449 12449540 12450941 0.57 [{'connected_gene': 'NUP210', 'score': 4.72}, {'connected_gene': 'SYN2', 'score': 4.35}, {'connected_gene': 'GC03P012458', 'score': 0.44}, {'connected_gene': 'GC03P012338', 'score': 0.14}, {'connected_gene': 'PPARG', 'score': 0.1}]
chr3 GH03I013483 13483302 13486453 1.66 [{'connected_gene': 'NUP210', 'score': 5.17}, {'connected_gene': 'HDAC11-AS1', 'score': 0.77}, {'connected_gene': 'HDAC11', 'score': 0.44}, {'connected_gene': 'PIR59377', 'score': 0.28}]
chr3 GH03I013470 13470521 13471648 1.13 [{'connected_gene': 'NUP210', 'score': 10.78}, {'connected_gene': 'HDAC11-AS1', 'score': 6.93}, {'connected_gene': 'GC03M014473', 'score': 0.44}, {'connected_gene': 'ENSG00000223398', 'score': 0.39}]
chr3 GH03I013462 13462393 13464773 0.54 [{'connected_gene': 'NUP210', 'score': 18.12}, {'connected_gene': 'HDAC11-AS1', 'score': 6.23}, {'connected_gene': 'ENSG00000223398', 'score': 0.77}, {'connected_gene': 'GC03M014473', 'score': 0.37}]
chr3 GH03I013455 13455150 13456018 0.82 [{'connected_gene': 'NUP210', 'score': 8.91}, {'connected_gene': 'ENSG00000238138', 'score': 0.77}, {'connected_gene': 'GC03P013444', 'score': 0.39}, {'connected_gene': 'GC03M014473', 'score': 0.34}]
chr3 GH03I013431 13431281 13431430 0.82 [{'connected_gene': 'NUP210', 'score': 10.86}, {'connected_gene': 'GC03P013426', 'score': 0.77}, {'connected_gene': 'PIR38600', 'score': 0.44}, {'connected_gene': 'GC03M014473', 'score': 0.25}]
chr3 GH03I013450 13450931 13453097 1.77 [{'connected_gene': 'NUP210', 'score': 8.87}, {'connected_gene': 'GC03P013444', 'score': 0.44}, {'connected_gene': 'ENSG00000238138', 'score': 0.44}, {'connected_gene': 'GC03M014473', 'score': 0.31}]
chr3 GH03I013429 13429221 13429626 0.58 [{'connected_gene': 'NUP210', 'score': 10.9}, {'connected_gene': 'GC03P013426', 'score': 0.77}, {'connected_gene': 'PIR38600', 'score': 0.44}, {'connected_gene': 'GC03M014473', 'score': 0.25}]
chr3 GH03I013401 13401198 13409824 0.89 [{'connected_gene': 'ENSG00000228242', 'score': 18.0}, {'connected_gene': 'XPC', 'score': 17.02}, {'connected_gene': 'ENSG00000272263', 'score': 10.59}, {'connected_gene': 'TSEN2', 'score': 10.46}, {'connected_gene': 'NUP210', 'score': 10.44}, {'connected_gene': 'VN1R20P', 'score': 10.41}, {'connected_gene': 'TPRXL', 'score': 9.76}, {'connected_gene': 'GC03M014473', 'score': 0.19}, {'connected_gene': 'IQSEC1', 'score': 0.13}]
chr3 GH03I013427 13427645 13428937 0.63 [{'connected_gene': 'GC03P013426', 'score': 550.77}, {'connected_gene': 'ENSG00000228242', 'score': 15.5}, {'connected_gene': 'XPC', 'score': 15.36}, {'connected_gene': 'NUP210', 'score': 10.9}, {'connected_gene': 'PIR38600', 'score': 0.44}, {'connected_gene': 'GC03M014473', 'score': 0.23}]
chr3 GH03I012913 12913678 12915744 0.38 [{'connected_gene': 'GC03M014446', 'score': 550.77}, {'connected_gene': 'PIR41577', 'score': 550.77}, {'connected_gene': 'LINC02022', 'score': 5.47}, {'connected_gene': 'NUP210', 'score': 5.11}, {'connected_gene': 'PIR39533', 'score': 0.39}, {'connected_gene': 'LOC105376956', 'score': 0.28}, {'connected_gene': 'IQSEC1', 'score': 0.05}]

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