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
ENST00000369066 [[106959729, 106960914], [106967005, 106969328], [106973007, 106973055], [106973142, 106973261], [106975179, 106975345], [106978050, 106978190], [106987277, 106987404], [106989460, 106989496], [106991314, 106991472], [106992445, 106992572], [106992662, 106992808], [106999726, 106999853], [107000058, 107000091], [107001329, 107001442], [107003642, 107003772], [107006360, 107006500], [107008677, 107008801], [107009216, 107009375], [107011638, 107011801], [107016346, 107018326]] [[106960216, 106960914], [106967005, 106969328], [106973007, 106973055], [106973142, 106973261], [106975179, 106975345], [106978050, 106978190], [106987277, 106987404], [106989460, 106989496], [106991314, 106991472], [106992445, 106992572], [106992662, 106992808], [106999726, 106999853], [107000058, 107000091], [107001329, 107001442], [107003642, 107003772], [107006360, 107006500], [107008677, 107008801], [107009216, 107009375], [107011638, 107011801], [107016346, 107016441]]
ENST00000457437 [[106989008, 106989170], [106989460, 106989496], [106991314, 106991472], [106992445, 106992572], [106992662, 106992808], [106999726, 106999853], [107000058, 107000091], [107001329, 107001442], [107003642, 107003772]] [[106989092, 106989170], [106989460, 106989496], [106991314, 106991472], [106992445, 106992572], [106992662, 106992808], [106999726, 106999853], [107000058, 107000091], [107001329, 107001442], [107003642, 107003772]]
ENST00000535438 [[106989028, 106989170], [106989460, 106989496], [106991314, 106991472], [106992445, 106992572], [106992662, 106992808], [106999726, 106999853], [107000058, 107000091], [107001329, 107001442], [107003642, 107003772], [107006360, 107006500], [107008677, 107008801], [107009216, 107009375], [107011638, 107011801], [107016346, 107017103]] [[106989092, 106989170], [106989460, 106989496], [106991314, 106991472], [106992445, 106992572], [106992662, 106992808], [106999726, 106999853], [107000058, 107000091], [107001329, 107001442], [107003642, 107003772], [107006360, 107006500], [107008677, 107008801], [107009216, 107009375], [107011638, 107011801], [107016346, 107016441]]
ENST00000487681 [[106992458, 106992572], [106992662, 106992808], [106999726, 107000189]] None
Promoter
Chrom Start End Description
chr6 106808560 106808600 CAGE_peak_2_at_AIM1_5end
chr6 106808678 106808687 CAGE_peak_19_at_AIM1_5end
chr6 106808702 106808727 CAGE_peak_8_at_AIM1_5end
chr6 106959718 106959736 CAGE_peak_11_at_AIM1_5end
chr6 106959753 106959764 CAGE_peak_21_at_AIM1_5end
chr6 106959780 106959802 CAGE_peak_7_at_AIM1_5end
chr6 106959806 106959835 CAGE_peak_13_at_AIM1_5end
chr6 106960066 106960077 CAGE_peak_22_at_AIM1_5end
chr6 106960088 106960166 CAGE_peak_4_at_AIM1_5end
chr6 106960179 106960193 CAGE_peak_15_at_AIM1_5end
chr6 106960386 106960405 CAGE_peak_10_at_AIM1_5end
chr6 106960409 106960456 CAGE_peak_1_at_AIM1_5end
chr6 106960459 106960488 CAGE_peak_3_at_AIM1_5end
chr6 106960491 106960537 CAGE_peak_6_at_AIM1_5end
chr6 106960626 106960662 CAGE_peak_5_at_AIM1_5end
chr6 106960685 106960696 CAGE_peak_14_at_AIM1_5end
chr6 106960707 106960723 CAGE_peak_12_at_AIM1_5end
chr6 106960763 106960780 CAGE_peak_25_at_AIM1_5end
chr6 106988986 106989037 CAGE_peak_9_at_AIM1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I106556 106556506 106556635 0.74 [{'connected_gene': 'ATG5', 'score': 10.16}, {'connected_gene': 'QRSL1', 'score': 6.39}, {'connected_gene': 'GC06P106541', 'score': 0.37}, {'connected_gene': 'GC06P106588', 'score': 0.29}, {'connected_gene': 'CRYBG1', 'score': 0.08}]
chr6 GH06I106568 106566165 106566178 0.43 [{'connected_gene': 'BEND3', 'score': 3.09}, {'connected_gene': 'RTN4IP1', 'score': 1.72}, {'connected_gene': 'GC06P106541', 'score': 0.34}, {'connected_gene': 'GC06P106588', 'score': 0.34}, {'connected_gene': 'CRYBG1', 'score': 0.08}]
chr6 GH06I106509 106509487 106517200 2.38 [{'connected_gene': 'BEND3', 'score': 20.41}, {'connected_gene': 'SOBP', 'score': 20.03}, {'connected_gene': 'ATG5', 'score': 19.43}, {'connected_gene': 'CRYBG1', 'score': 12.85}, {'connected_gene': 'QRSL1', 'score': 9.18}, {'connected_gene': 'LOC101927405', 'score': 0.39}, {'connected_gene': 'GC06P106528', 'score': 0.37}]
chr6 GH06I106628 106628089 106631036 2.21 [{'connected_gene': 'QRSL1', 'score': 622.31}, {'connected_gene': 'RTN4IP1', 'score': 550.77}, {'connected_gene': 'CRYBG1', 'score': 6.53}, {'connected_gene': 'RNU6-527P', 'score': 0.34}]
chr6 GH06I106572 106572090 106573966 0.31 [{'connected_gene': 'QRSL1', 'score': 17.21}, {'connected_gene': 'RTN4IP1', 'score': 10.64}, {'connected_gene': 'CRYBG1', 'score': 6.7}, {'connected_gene': 'GC06P106588', 'score': 0.37}, {'connected_gene': 'GC06P106541', 'score': 0.29}]
chr6 GH06I106567 106567093 106571055 0.38 [{'connected_gene': 'QRSL1', 'score': 31.87}, {'connected_gene': 'RTN4IP1', 'score': 10.61}, {'connected_gene': 'CRYBG1', 'score': 6.8}, {'connected_gene': 'GC06P106588', 'score': 0.37}, {'connected_gene': 'GC06P106541', 'score': 0.31}]
chr6 GH06I106557 106557463 106558943 0.94 [{'connected_gene': 'QRSL1', 'score': 25.17}, {'connected_gene': 'RTN4IP1', 'score': 10.06}, {'connected_gene': 'GC06P106541', 'score': 0.37}, {'connected_gene': 'GC06P106588', 'score': 0.29}, {'connected_gene': 'CRYBG1', 'score': 0.08}]
chr6 GH06I106561 106561006 106563166 0.99 [{'connected_gene': 'QRSL1', 'score': 16.68}, {'connected_gene': 'RTN4IP1', 'score': 10.07}, {'connected_gene': 'GC06P106541', 'score': 0.34}, {'connected_gene': 'GC06P106588', 'score': 0.31}, {'connected_gene': 'CRYBG1', 'score': 0.08}]
chr6 GH06I106544 106544828 106548819 1.17 [{'connected_gene': 'QRSL1', 'score': 15.42}, {'connected_gene': 'CRYBG1', 'score': 6.91}, {'connected_gene': 'GC06P106541', 'score': 0.44}, {'connected_gene': 'GC06P106588', 'score': 0.26}]
chr6 GH06I106548 106548948 106554780 0.49 [{'connected_gene': 'QRSL1', 'score': 22.88}, {'connected_gene': 'CRYBG1', 'score': 6.74}, {'connected_gene': 'GC06P106541', 'score': 0.39}, {'connected_gene': 'GC06P106588', 'score': 0.28}]
chr6 GH06I106566 106566646 106566795 0.86 [{'connected_gene': 'QRSL1', 'score': 6.21}, {'connected_gene': 'GC06P106588', 'score': 0.34}, {'connected_gene': 'GC06P106541', 'score': 0.31}, {'connected_gene': 'CRYBG1', 'score': 0.08}]
chr6 GH06I106535 106535058 106535907 0.2 [{'connected_gene': 'QRSL1', 'score': 12.39}, {'connected_gene': 'GC06P106538', 'score': 0.77}, {'connected_gene': 'GC06P106528', 'score': 0.44}, {'connected_gene': 'CRYBG1', 'score': 0.09}]
chr6 GH06I106445 106445026 106445175 0.81 [{'connected_gene': 'QRSL1', 'score': 4.59}, {'connected_gene': 'GC06P106450', 'score': 0.77}, {'connected_gene': 'GC06M106404', 'score': 0.37}, {'connected_gene': 'ENSG00000207499', 'score': 0.34}, {'connected_gene': 'CRYBG1', 'score': 0.18}]
chr6 GH06I106389 106389726 106390758 0.4 [{'connected_gene': 'CRYBG1', 'score': 11.64}, {'connected_gene': 'ENSG00000233941', 'score': 11.62}, {'connected_gene': 'ATG5', 'score': 10.62}, {'connected_gene': 'GC06P106421', 'score': 0.29}]
chr6 GH06I106517 106517601 106529342 1.68 [{'connected_gene': 'CRYBG1', 'score': 16.05}, {'connected_gene': 'PRDM1', 'score': 8.77}, {'connected_gene': 'QRSL1', 'score': 7.33}, {'connected_gene': 'ATG5', 'score': 2.95}, {'connected_gene': 'GC06P106528', 'score': 0.44}, {'connected_gene': 'LOC101927405', 'score': 0.34}]
chr6 GH06I106496 106496623 106497627 0.83 [{'connected_gene': 'CRYBG1', 'score': 17.26}, {'connected_gene': 'QRSL1', 'score': 9.51}, {'connected_gene': 'LOC101927405', 'score': 0.44}, {'connected_gene': 'GC06M106404', 'score': 0.28}]
chr6 GH06I106489 106489924 106491548 0.49 [{'connected_gene': 'CRYBG1', 'score': 15.6}, {'connected_gene': 'QRSL1', 'score': 4.5}, {'connected_gene': 'LOC101927405', 'score': 0.39}, {'connected_gene': 'GC06M106404', 'score': 0.29}]
chr6 GH06I106475 106475640 106477119 0.66 [{'connected_gene': 'CRYBG1', 'score': 4.79}, {'connected_gene': 'GC06M106404', 'score': 0.37}, {'connected_gene': 'LOC101927405', 'score': 0.31}]
chr6 GH06I106531 106531237 106531704 0.4 [{'connected_gene': 'CRYBG1', 'score': 14.57}, {'connected_gene': 'GC06P106528', 'score': 0.77}, {'connected_gene': 'GC06P106538', 'score': 0.44}]
chr6 GH06I106532 106532898 106534041 0.78 [{'connected_gene': 'CRYBG1', 'score': 6.08}, {'connected_gene': 'GC06P106528', 'score': 0.77}, {'connected_gene': 'GC06P106538', 'score': 0.44}]
chr6 GH06I106377 106377173 106377554 0.51 [{'connected_gene': 'CRYBG1', 'score': 0.37}, {'connected_gene': 'GC06P106421', 'score': 0.26}]
chr6 GH06I106368 106368849 106373798 0.66 [{'connected_gene': 'CRYBG1', 'score': 0.39}, {'connected_gene': 'GC06P106421', 'score': 0.25}]
chr6 GH06I106328 106328918 106328947 0.22 [{'connected_gene': 'RNU6-344P', 'score': 11.97}, {'connected_gene': 'ENSG00000233941', 'score': 11.83}, {'connected_gene': 'CRYBG1', 'score': 11.83}, {'connected_gene': 'ATG5', 'score': 0.77}]
chr6 GH06I106457 106457659 106459368 0.2 [{'connected_gene': 'LOC105377924', 'score': 550.77}, {'connected_gene': 'GC06M106404', 'score': 550.77}, {'connected_gene': 'CRYBG1', 'score': 0.15}]
chr6 GH06I106501 106501401 106503400 0.71 [{'connected_gene': 'LOC101927405', 'score': 550.77}, {'connected_gene': 'QRSL1', 'score': 19.37}, {'connected_gene': 'CRYBG1', 'score': 17.25}, {'connected_gene': 'RTN4IP1', 'score': 9.71}, {'connected_gene': 'GC06P106528', 'score': 0.31}]
chr6 GH06I106495 106495201 106495400 0.51 [{'connected_gene': 'LOC101927405', 'score': 0.44}, {'connected_gene': 'GC06M106404', 'score': 0.28}, {'connected_gene': 'CRYBG1', 'score': 0.12}]
chr6 GH06I106450 106450177 106451200 0.49 [{'connected_gene': 'RNA5SP211', 'score': 550.77}, {'connected_gene': 'GC06P106450', 'score': 550.77}, {'connected_gene': 'GC06P106455', 'score': 0.77}, {'connected_gene': 'GC06M106404', 'score': 0.44}, {'connected_gene': 'CRYBG1', 'score': 0.17}]
chr6 GH06I106447 106447737 106447755 0.31 [{'connected_gene': 'RNA5SP211', 'score': 550.77}, {'connected_gene': 'GC06P106450', 'score': 550.77}, {'connected_gene': 'GC06M106404', 'score': 0.39}, {'connected_gene': 'ENSG00000207499', 'score': 0.31}, {'connected_gene': 'CRYBG1', 'score': 0.17}]
chr6 GH06I106448 106447801 106448749 0.74 [{'connected_gene': 'RNA5SP211', 'score': 550.77}, {'connected_gene': 'GC06P106450', 'score': 550.77}, {'connected_gene': 'GC06M106404', 'score': 0.39}, {'connected_gene': 'ENSG00000207499', 'score': 0.31}, {'connected_gene': 'CRYBG1', 'score': 0.17}]
chr6 GH06I106451 106451400 106451801 0.31 [{'connected_gene': 'RNA5SP211', 'score': 0.77}, {'connected_gene': 'GC06P106455', 'score': 0.77}, {'connected_gene': 'LOC105377924', 'score': 0.44}, {'connected_gene': 'GC06M106404', 'score': 0.44}, {'connected_gene': 'CRYBG1', 'score': 0.16}]
chr6 GH06I106748 106748118 106752499 1.12 [{'connected_gene': 'LINC02532', 'score': 17.5}, {'connected_gene': 'MIR587', 'score': 11.51}, {'connected_gene': 'QRSL1', 'score': 6.81}, {'connected_gene': 'CRYBG1', 'score': 6.43}, {'connected_gene': 'RNU6-117P', 'score': 0.39}, {'connected_gene': 'GC06P106787', 'score': 0.29}, {'connected_gene': 'GC06M106747', 'score': 0.22}]
chr6 GH06I106585 106585743 106587952 0.2 [{'connected_gene': 'GC06P106588', 'score': 550.77}, {'connected_gene': 'QRSL1', 'score': 43.37}, {'connected_gene': 'RTN4IP1', 'score': 10.57}, {'connected_gene': 'CRYBG1', 'score': 7.06}, {'connected_gene': 'GC06P106541', 'score': 0.25}]
chr6 GH06I106536 106536602 106538600 0.72 [{'connected_gene': 'GC06P106538', 'score': 550.77}, {'connected_gene': 'QRSL1', 'score': 14.62}, {'connected_gene': 'CRYBG1', 'score': 7.36}, {'connected_gene': 'SOBP', 'score': 5.3}, {'connected_gene': 'GC06P106528', 'score': 0.44}]
chr6 GH06I106539 106539945 106541919 1.1 [{'connected_gene': 'GC06P106541', 'score': 550.77}, {'connected_gene': 'CRYBG1', 'score': 7.58}, {'connected_gene': 'QRSL1', 'score': 7.46}, {'connected_gene': 'GC06P106538', 'score': 0.77}]
chr6 GH06I106360 106360346 106361539 1.61 [{'connected_gene': 'ENSG00000233941', 'score': 550.77}, {'connected_gene': 'CRYBG1', 'score': 550.77}, {'connected_gene': 'GC06P106421', 'score': 0.22}]
chr6 GH06I106410 106410933 106412706 0.38 [{'connected_gene': 'GC06P106421', 'score': 0.44}, {'connected_gene': 'GC06M106404', 'score': 0.25}, {'connected_gene': 'CRYBG1', 'score': 0.23}]
chr6 GH06I106530 106530092 106530979 0.63 [{'connected_gene': 'GC06P106528', 'score': 550.77}, {'connected_gene': 'CRYBG1', 'score': 12.32}, {'connected_gene': 'GC06P106538', 'score': 0.44}]
chr6 GH06I106379 106379555 106384263 0.51 [{'connected_gene': 'ENSG00000233941', 'score': 12.67}, {'connected_gene': 'CRYBG1', 'score': 12.67}, {'connected_gene': 'GC06P106421', 'score': 0.28}]
chr6 GH06I106446 106446366 106446515 0.56 [{'connected_gene': 'GC06P106450', 'score': 0.77}, {'connected_gene': 'GC06M106404', 'score': 0.39}, {'connected_gene': 'ENSG00000207499', 'score': 0.31}, {'connected_gene': 'CRYBG1', 'score': 0.17}]
chr6 GH06I106462 106462538 106464214 0.75 [{'connected_gene': 'GC06M106404', 'score': 0.77}, {'connected_gene': 'LOC101927405', 'score': 0.28}, {'connected_gene': 'CRYBG1', 'score': 0.15}]
chr6 GH06I106477 106477601 106477800 0.72 [{'connected_gene': 'GC06M106404', 'score': 0.37}, {'connected_gene': 'LOC101927405', 'score': 0.34}, {'connected_gene': 'CRYBG1', 'score': 0.13}]

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