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
ENST00000038176 [[59496062, 59496759], [59498210, 59498320], [59498456, 59498559], [59499016, 59499167], [59500176, 59500260], [59502010, 59502134], [59502565, 59502633], [59503425, 59503493], [59506790, 59506849], [59508118, 59508218], [59509945, 59510109], [59510418, 59510461], [59511790, 59511922], [59512308, 59512429], [59512528, 59512580], [59513843, 59513907], [59514003, 59514094], [59514616, 59514696], [59515768, 59515945], [59518485, 59518594], [59520327, 59520399], [59522162, 59522292], [59535778, 59535831], [59535935, 59535983], [59536267, 59536339], [59544054, 59544105], [59547747, 59547784], [59547863, 59547931], [59548026, 59548105], [59555542, 59555632], [59572131, 59572403]] [[59496664, 59496759], [59498210, 59498320], [59498456, 59498559], [59499016, 59499167], [59500176, 59500260], [59502010, 59502134], [59502565, 59502633], [59503425, 59503493], [59506790, 59506849], [59508118, 59508218], [59509945, 59510109], [59510418, 59510461], [59511790, 59511922], [59512308, 59512429], [59512528, 59512580], [59513843, 59513907], [59514003, 59514094], [59514616, 59514696], [59515768, 59515945], [59518485, 59518594], [59520327, 59520399], [59522162, 59522292], [59535778, 59535831], [59535935, 59535983], [59536267, 59536339], [59544054, 59544105], [59547747, 59547784], [59547863, 59547931], [59548026, 59548105], [59555542, 59555632], [59572131, 59572190]]
ENST00000427130 [[59496328, 59496759], [59498210, 59498320], [59498456, 59498559], [59499016, 59499167], [59500176, 59500260], [59502010, 59502134], [59502565, 59502633], [59503425, 59503493], [59506790, 59506849], [59508118, 59508218], [59509945, 59510109], [59510418, 59510461], [59511790, 59511922], [59512308, 59512429], [59512528, 59512580], [59513843, 59513907], [59514003, 59514094], [59514616, 59514696], [59515768, 59515945], [59518485, 59518594], [59520327, 59520399], [59522162, 59522292], [59535778, 59535831], [59535935, 59535983], [59536267, 59536339], [59544054, 59544105], [59547747, 59547784], [59547863, 59547931], [59548026, 59548105], [59555542, 59555632], [59571753, 59572093]] [[59496664, 59496759], [59498210, 59498320], [59498456, 59498559], [59499016, 59499167], [59500176, 59500260], [59502010, 59502134], [59502565, 59502633], [59503425, 59503493], [59506790, 59506849], [59508118, 59508218], [59509945, 59510109], [59510418, 59510461], [59511790, 59511922], [59512308, 59512429], [59512528, 59512580], [59513843, 59513907], [59514003, 59514094], [59514616, 59514696], [59515768, 59515945], [59518485, 59518594], [59520327, 59520399], [59522162, 59522292], [59535778, 59535831], [59535935, 59535983], [59536267, 59536339], [59544054, 59544105], [59547747, 59547784], [59547863, 59547931], [59548026, 59548105], [59555542, 59555632], [59571753, 59571905]]
ENST00000523177 [[59500207, 59500260], [59502010, 59502134], [59502565, 59502633], [59503425, 59503493], [59506790, 59506849], [59508118, 59508218], [59508358, 59508461]] None
ENST00000519166 [[59502080, 59502633], [59503425, 59503493], [59506790, 59506859]] None
ENST00000524148 [[59502310, 59502633], [59503425, 59503493], [59506790, 59506849], [59507296, 59507437]] None
ENST00000523106 [[59502559, 59502633], [59503425, 59503493], [59506790, 59506849], [59508118, 59508218], [59509945, 59510109], [59510418, 59510461], [59511790, 59512039]] None
ENST00000519174 [[59503424, 59503493], [59506790, 59507306]] None
ENST00000521972 [[59496367, 59496759], [59498210, 59498559], [59499016, 59499137]] None
ENST00000517612 [[59498907, 59499167], [59500176, 59500260], [59502010, 59502134], [59502565, 59502633], [59503425, 59503568]] None
ENST00000521712 [[59498917, 59499167], [59500176, 59500260], [59502010, 59502215]] None
ENST00000523982 [[59509961, 59510109], [59510418, 59510461], [59511790, 59511922], [59512308, 59512429], [59512528, 59512580], [59512671, 59512737]] None
ENST00000519227 [[59510031, 59510109], [59510418, 59510461], [59511790, 59511922], [59512308, 59512429], [59512528, 59512737]] None
ENST00000519858 [[59513726, 59513907], [59514003, 59514094], [59514616, 59514696], [59515768, 59515945], [59518485, 59518594], [59520327, 59520399], [59522162, 59522292], [59535778, 59535831], [59535935, 59535978]] None
ENST00000518229 [[59536305, 59536339], [59544054, 59544105], [59547747, 59547784], [59547863, 59547931], [59548026, 59548105], [59549792, 59549948], [59555542, 59555632], [59572131, 59572197]] [[59549899, 59549948], [59555542, 59555632], [59572131, 59572190]]
ENST00000518159 [[59536309, 59536339], [59544054, 59544105], [59547747, 59547784], [59547863, 59547931], [59548026, 59548105], [59552526, 59552661], [59555542, 59555632], [59572131, 59572223]] [[59552645, 59552661], [59555542, 59555632], [59572131, 59572190]]
ENST00000522645 [[59543923, 59544105], [59547747, 59547784], [59547863, 59547931], [59548026, 59548105], [59555542, 59555632], [59572131, 59572257]] None
ENST00000519871 [[59543986, 59544105], [59547747, 59547784], [59547863, 59547931], [59548026, 59548105], [59555542, 59555632], [59571753, 59571773]] None
NM_001144772 [[59496062, 59496759], [59498210, 59498320], [59498456, 59498559], [59499016, 59499167], [59500176, 59500260], [59502010, 59502134], [59502565, 59502633], [59503425, 59503493], [59506790, 59506849], [59508118, 59508218], [59509945, 59510109], [59510418, 59510461], [59511790, 59511922], [59512308, 59512429], [59512528, 59512580], [59513843, 59513907], [59514003, 59514094], [59514616, 59514696], [59515768, 59515945], [59518485, 59518594], [59520327, 59520399], [59522162, 59522292], [59535778, 59535831], [59535935, 59535983], [59536267, 59536339], [59544054, 59544105], [59547747, 59547784], [59547863, 59547931], [59548026, 59548105], [59555542, 59555632], [59571753, 59571966]] [[59496664, 59496759], [59498210, 59498320], [59498456, 59498559], [59499016, 59499167], [59500176, 59500260], [59502010, 59502134], [59502565, 59502633], [59503425, 59503493], [59506790, 59506849], [59508118, 59508218], [59509945, 59510109], [59510418, 59510461], [59511790, 59511922], [59512308, 59512429], [59512528, 59512580], [59513843, 59513907], [59514003, 59514094], [59514616, 59514696], [59515768, 59515945], [59518485, 59518594], [59520327, 59520399], [59522162, 59522292], [59535778, 59535831], [59535935, 59535983], [59536267, 59536339], [59544054, 59544105], [59547747, 59547784], [59547863, 59547931], [59548026, 59548105], [59555542, 59555632], [59571753, 59571905]]
NM_003580 [[59496062, 59496759], [59498210, 59498320], [59498456, 59498559], [59499016, 59499167], [59500176, 59500260], [59502010, 59502134], [59502565, 59502633], [59503425, 59503493], [59506790, 59506849], [59508118, 59508218], [59509945, 59510109], [59510418, 59510461], [59511790, 59511922], [59512308, 59512429], [59512528, 59512580], [59513843, 59513907], [59514003, 59514094], [59514616, 59514696], [59515768, 59515945], [59518485, 59518594], [59520327, 59520399], [59522162, 59522292], [59535778, 59535831], [59535935, 59535983], [59536267, 59536339], [59544054, 59544105], [59547747, 59547784], [59547863, 59547931], [59548026, 59548105], [59555542, 59555632], [59572131, 59572404]] [[59496664, 59496759], [59498210, 59498320], [59498456, 59498559], [59499016, 59499167], [59500176, 59500260], [59502010, 59502134], [59502565, 59502633], [59503425, 59503493], [59506790, 59506849], [59508118, 59508218], [59509945, 59510109], [59510418, 59510461], [59511790, 59511922], [59512308, 59512429], [59512528, 59512580], [59513843, 59513907], [59514003, 59514094], [59514616, 59514696], [59515768, 59515945], [59518485, 59518594], [59520327, 59520399], [59522162, 59522292], [59535778, 59535831], [59535935, 59535983], [59536267, 59536339], [59544054, 59544105], [59547747, 59547784], [59547863, 59547931], [59548026, 59548105], [59555542, 59555632], [59572131, 59572190]]
Promoter
Chrom Start End Description
chr8 59503487 59503499 CAGE_peak_32_at_NSMAF_5end
chr8 59507206 59507217 CAGE_peak_23_at_NSMAF_5end
chr8 59507235 59507250 CAGE_peak_12_at_NSMAF_5end
chr8 59507283 59507329 CAGE_peak_4_at_NSMAF_5end
chr8 59507402 59507420 CAGE_peak_10_at_NSMAF_5end
chr8 59507424 59507447 CAGE_peak_8_at_NSMAF_5end
chr8 59507868 59507899 CAGE_peak_15_at_NSMAF_5end
chr8 59508395 59508425 CAGE_peak_3_at_NSMAF_5end
chr8 59508442 59508449 CAGE_peak_17_at_NSMAF_5end
chr8 59508453 59508466 CAGE_peak_7_at_NSMAF_5end
chr8 59508625 59508640 CAGE_peak_13_at_NSMAF_5end
chr8 59512733 59512738 CAGE_peak_14_at_NSMAF_5end
chr8 59571844 59571855 CAGE_peak_21_at_NSMAF_5end
chr8 59571856 59571867 CAGE_peak_22_at_NSMAF_5end
chr8 59571877 59571900 CAGE_peak_11_at_NSMAF_5end
chr8 59572129 59572169 CAGE_peak_9_at_NSMAF_5end
chr8 59572175 59572210 CAGE_peak_5_at_NSMAF_5end
chr8 59572211 59572234 CAGE_peak_6_at_NSMAF_5end
chr8 59572237 59572296 CAGE_peak_2_at_NSMAF_5end
chr8 59572301 59572435 CAGE_peak_1_at_NSMAF_5end
chr8 59572469 59572484 CAGE_peak_16_at_NSMAF_5end
chr8 59572512 59572526 CAGE_peak_20_at_NSMAF_5end
chr8 59572532 59572546 CAGE_peak_26_at_NSMAF_5end
chr8 59572547 59572556 CAGE_peak_25_at_NSMAF_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I058701 58701862 58702011 0.67 [{'connected_gene': 'NSMAF', 'score': 0.26}, {'connected_gene': 'LOC105375858', 'score': 0.25}]
chr8 GH08I058671 58671746 58673051 0.91 [{'connected_gene': 'NSMAF', 'score': 0.39}, {'connected_gene': 'GC08P058645', 'score': 0.31}, {'connected_gene': 'LOC105375858', 'score': 0.18}]
chr8 GH08I058673 58673616 58674781 0.2 [{'connected_gene': 'NSMAF', 'score': 0.39}, {'connected_gene': 'GC08P058645', 'score': 0.31}, {'connected_gene': 'LOC105375858', 'score': 0.18}]
chr8 GH08I058657 58657333 58661346 2.02 [{'connected_gene': 'NSMAF', 'score': 555.47}, {'connected_gene': 'GC08P058645', 'score': 0.39}]
chr8 GH08I058658 58657029 58657151 0.66 [{'connected_gene': 'NSMAF', 'score': 0.77}, {'connected_gene': 'GC08P058645', 'score': 0.39}]
chr8 GH08I058651 58651801 58652200 0.57 [{'connected_gene': 'NSMAF', 'score': 0.44}, {'connected_gene': 'GC08P058645', 'score': 0.44}]
chr8 GH08I058616 58616475 58617000 1.01 [{'connected_gene': 'SDCBP', 'score': 12.62}, {'connected_gene': 'GC08P058613', 'score': 0.77}, {'connected_gene': 'GC08P058645', 'score': 0.31}, {'connected_gene': 'NSMAF', 'score': 0.26}]
chr8 GH08I058582 58582475 58586591 0.2 [{'connected_gene': 'SDCBP', 'score': 10.3}, {'connected_gene': 'RPS26P7', 'score': 0.77}, {'connected_gene': 'NSMAF', 'score': 0.18}]
chr8 GH08I058608 58608162 58609585 1.03 [{'connected_gene': 'SDCBP', 'score': 4.41}, {'connected_gene': 'GC08P058613', 'score': 0.44}, {'connected_gene': 'RPS26P7', 'score': 0.34}, {'connected_gene': 'NSMAF', 'score': 0.23}]
chr8 GH08I058593 58593526 58597564 1.33 [{'connected_gene': 'SDCBP', 'score': 10.87}, {'connected_gene': 'RPS26P7', 'score': 0.44}, {'connected_gene': 'GC08P058613', 'score': 0.37}, {'connected_gene': 'NSMAF', 'score': 0.21}]
chr8 GH08I058599 58599376 58600441 0.2 [{'connected_gene': 'SDCBP', 'score': 7.01}, {'connected_gene': 'GC08P058613', 'score': 0.39}, {'connected_gene': 'RPS26P7', 'score': 0.39}, {'connected_gene': 'NSMAF', 'score': 0.22}]
chr8 GH08I058591 58591933 58592680 0.2 [{'connected_gene': 'RPS26P7', 'score': 0.77}, {'connected_gene': 'GC08P058613', 'score': 0.34}, {'connected_gene': 'NSMAF', 'score': 0.2}]
chr8 GH08I058587 58587168 58587327 0.44 [{'connected_gene': 'RPS26P7', 'score': 550.77}, {'connected_gene': 'SDCBP', 'score': 7.19}, {'connected_gene': 'NSMAF', 'score': 1.79}, {'connected_gene': 'UBXN2B', 'score': 1.45}]
chr8 GH08I058589 58589729 58591470 0.31 [{'connected_gene': 'RPS26P7', 'score': 550.77}, {'connected_gene': 'SDCBP', 'score': 8.74}, {'connected_gene': 'GC08P058613', 'score': 0.34}, {'connected_gene': 'NSMAF', 'score': 0.2}]
chr8 GH08I058740 58740417 58745596 0.54 [{'connected_gene': 'LOC105375858', 'score': 0.44}, {'connected_gene': 'NSMAF', 'score': 0.18}]
chr8 GH08I058721 58721762 58721911 0.57 [{'connected_gene': 'LOC105375858', 'score': 0.31}, {'connected_gene': 'NSMAF', 'score': 0.21}]
chr8 GH08I058746 58746977 58747962 0.2 [{'connected_gene': 'LOC105375858', 'score': 0.77}, {'connected_gene': 'NSMAF', 'score': 0.17}]
chr8 GH08I058723 58723736 58725260 0.52 [{'connected_gene': 'LOC105375858', 'score': 0.31}, {'connected_gene': 'NSMAF', 'score': 0.21}]
chr8 GH08I058722 58722909 58723450 0.2 [{'connected_gene': 'LOC105375858', 'score': 0.31}, {'connected_gene': 'NSMAF', 'score': 0.21}]
chr8 GH08I058713 58713388 58716367 0.43 [{'connected_gene': 'LOC105375858', 'score': 0.28}, {'connected_gene': 'NSMAF', 'score': 0.22}]
chr8 GH08I058646 58646892 58647739 0.88 [{'connected_gene': 'GC08P058645', 'score': 550.77}, {'connected_gene': 'NSMAF', 'score': 0.39}]
chr8 GH08I058649 58649842 58649991 0.62 [{'connected_gene': 'GC08P058645', 'score': 0.77}, {'connected_gene': 'NSMAF', 'score': 0.44}]
chr8 GH08I058642 58642556 58642651 0.59 [{'connected_gene': 'GC08P058645', 'score': 0.77}, {'connected_gene': 'NSMAF', 'score': 0.37}, {'connected_gene': 'GC08P058613', 'score': 0.31}]

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