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
ENST00000539907 [[21835857, 21836010], [21887118, 21887238], [21889602, 21889777], [21890533, 21890709], [21894596, 21894740], [21896797, 21896867], [21900157, 21900292], [21902225, 21902417], [21903014, 21903134], [21903875, 21904902]] [[21887172, 21887238], [21889602, 21889777], [21890533, 21890709], [21894596, 21894740], [21896797, 21896867], [21900157, 21900292], [21902225, 21902417], [21903014, 21903134], [21903875, 21904141]]
ENST00000540617 [[21835857, 21836010], [21887118, 21887238], [21887589, 21887705], [21889602, 21889777], [21890533, 21890709], [21894596, 21894740], [21896797, 21896867], [21900157, 21900292], [21902225, 21902417], [21903014, 21903134], [21903875, 21904902]] [[21887222, 21887238], [21887589, 21887705], [21889602, 21889777], [21890533, 21890709], [21894596, 21894740], [21896797, 21896867], [21900157, 21900292], [21902225, 21902417], [21903014, 21903134], [21903875, 21904141]]
ENST00000374840 [[21835864, 21836010], [21880470, 21880635], [21887118, 21887238], [21887589, 21887705], [21889602, 21889777], [21890533, 21890709], [21894596, 21894740], [21896797, 21896867], [21900157, 21900292], [21902225, 21902417], [21903014, 21903134], [21903875, 21904905]] [[21880574, 21880635], [21887118, 21887238], [21887589, 21887705], [21889602, 21889777], [21890533, 21890709], [21894596, 21894740], [21896797, 21896867], [21900157, 21900292], [21902225, 21902417], [21903014, 21903134], [21903875, 21904141]]
ENST00000468526 [[21835889, 21836010], [21887118, 21887238], [21887589, 21887705], [21889602, 21889777], [21890533, 21890704]] None
ENST00000374832 [[21877771, 21877921], [21880470, 21880635], [21887118, 21887238], [21887589, 21887705], [21889602, 21889777], [21890533, 21890709], [21894596, 21894740], [21896797, 21896867], [21900157, 21900292], [21902225, 21902417], [21903014, 21903134], [21903875, 21904505]] [[21880574, 21880635], [21887118, 21887238], [21887589, 21887705], [21889602, 21889777], [21890533, 21890709], [21894596, 21894740], [21896797, 21896867], [21900157, 21900292], [21902225, 21902417], [21903014, 21903134], [21903875, 21904141]]
ENST00000425315 [[21880574, 21880635], [21887118, 21887238], [21887589, 21887705], [21889602, 21889777], [21890533, 21890709], [21894596, 21894740], [21896797, 21896867], [21900157, 21900292], [21902225, 21902417], [21903014, 21903134], [21903875, 21904902]] [[21880574, 21880635], [21887118, 21887238], [21887589, 21887705], [21889602, 21889777], [21890533, 21890709], [21894596, 21894740], [21896797, 21896867], [21900157, 21900292], [21902225, 21902417], [21903014, 21903134], [21903875, 21904141]]
ENST00000374830 [[21896795, 21896867], [21902225, 21902417], [21903014, 21903134], [21903875, 21904224]] [[21902290, 21902417], [21903014, 21903134], [21903875, 21904141]]
ENST00000374829 [[21900970, 21901236], [21902225, 21902417], [21903014, 21903134], [21903875, 21904892]] [[21902290, 21902417], [21903014, 21903134], [21903875, 21904141]]
NM_001177520 [[21835850, 21836010], [21887118, 21887238], [21889602, 21889777], [21890533, 21890709], [21894596, 21894740], [21896797, 21896867], [21900157, 21900292], [21902225, 21902417], [21903014, 21903134], [21903875, 21904905]] [[21887172, 21887238], [21889602, 21889777], [21890533, 21890709], [21894596, 21894740], [21896797, 21896867], [21900157, 21900292], [21902225, 21902417], [21903014, 21903134], [21903875, 21904141]]
NM_001127501 [[21835850, 21836010], [21887118, 21887238], [21887589, 21887705], [21889602, 21889777], [21890533, 21890709], [21894596, 21894740], [21896797, 21896867], [21900157, 21900292], [21902225, 21902417], [21903014, 21903134], [21903875, 21904905]] [[21887222, 21887238], [21887589, 21887705], [21889602, 21889777], [21890533, 21890709], [21894596, 21894740], [21896797, 21896867], [21900157, 21900292], [21902225, 21902417], [21903014, 21903134], [21903875, 21904141]]
NM_000478 [[21835850, 21836010], [21880470, 21880635], [21887118, 21887238], [21887589, 21887705], [21889602, 21889777], [21890533, 21890709], [21894596, 21894740], [21896797, 21896867], [21900157, 21900292], [21902225, 21902417], [21903014, 21903134], [21903875, 21904905]] [[21880574, 21880635], [21887118, 21887238], [21887589, 21887705], [21889602, 21889777], [21890533, 21890709], [21894596, 21894740], [21896797, 21896867], [21900157, 21900292], [21902225, 21902417], [21903014, 21903134], [21903875, 21904141]]
Promoter
Chrom Start End Description
chr1 21835461 21835482 CAGE_peak_3_at_ALPL_5end
chr1 21835908 21835926 CAGE_peak_1_at_ALPL_5end
chr1 21877753 21877788 CAGE_peak_2_at_ALPL_5end
chr1 21880493 21880518 CAGE_peak_4_at_ALPL_5end
chr1 21880519 21880528 CAGE_peak_11_at_ALPL_5end
chr1 21880545 21880556 CAGE_peak_7_at_ALPL_5end
chr1 21880560 21880574 CAGE_peak_6_at_ALPL_5end
chr1 21890543 21890550 CAGE_peak_13_at_ALPL_5end
chr1 21890561 21890569 CAGE_peak_10_at_ALPL_5end
chr1 21890586 21890595 CAGE_peak_9_at_ALPL_5end
chr1 21890656 21890674 CAGE_peak_5_at_ALPL_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I021658 21658992 21660000 1.48 [{'connected_gene': 'ZBTB40', 'score': 15.75}, {'connected_gene': 'HP1BP3', 'score': 14.66}, {'connected_gene': 'CDC42-IT1', 'score': 14.03}, {'connected_gene': 'USP48', 'score': 12.16}, {'connected_gene': 'ALPL', 'score': 11.52}, {'connected_gene': 'ENSG00000271428', 'score': 11.18}, {'connected_gene': 'DDOST', 'score': 9.79}, {'connected_gene': 'RAP1GAP', 'score': 0.44}, {'connected_gene': 'PIR35545', 'score': 0.22}]
chr1 GH01I021397 21397574 21398200 0.89 [{'connected_gene': 'PPP1R11P1', 'score': 550.77}, {'connected_gene': 'ALPL', 'score': 11.42}, {'connected_gene': 'ECE1', 'score': 0.23}]
chr1 GH01I021517 21517840 21519573 0.56 [{'connected_gene': 'NBPF3', 'score': 12.43}, {'connected_gene': 'NBPF2P', 'score': 11.05}, {'connected_gene': 'GC01P021510', 'score': 0.44}, {'connected_gene': 'ALPL', 'score': 0.44}, {'connected_gene': 'GC01P021509', 'score': 0.44}, {'connected_gene': 'GC01P021552', 'score': 0.29}, {'connected_gene': 'GC01P021551', 'score': 0.29}]
chr1 GH01I021518 21517074 21517514 0.6 [{'connected_gene': 'NBPF3', 'score': 11.69}, {'connected_gene': 'GC01P021510', 'score': 0.44}, {'connected_gene': 'ALPL', 'score': 0.44}, {'connected_gene': 'GC01P021509', 'score': 0.44}, {'connected_gene': 'GC01P021552', 'score': 0.29}, {'connected_gene': 'GC01P021551', 'score': 0.29}]
chr1 GH01I021650 21650550 21652337 2.11 [{'connected_gene': 'RAP1GAP', 'score': 561.07}, {'connected_gene': 'ALPL', 'score': 11.6}, {'connected_gene': 'PIR35545', 'score': 0.25}]
chr1 GH01I021259 21259532 21264318 1.73 [{'connected_gene': 'HP1BP3', 'score': 25.95}, {'connected_gene': 'EIF4G3', 'score': 21.75}, {'connected_gene': 'USP48', 'score': 19.02}, {'connected_gene': 'CDC42-IT1', 'score': 11.43}, {'connected_gene': 'NBPF3', 'score': 11.4}, {'connected_gene': 'ENSG00000271428', 'score': 10.65}, {'connected_gene': 'ECE1', 'score': 9.42}, {'connected_gene': 'NBPF2P', 'score': 4.42}, {'connected_gene': 'ALPL', 'score': 1.77}, {'connected_gene': 'ENSG00000236936', 'score': 0.77}, {'connected_gene': 'PIR51422', 'score': 0.28}]
chr1 GH01I021541 21541349 21542734 0.58 [{'connected_gene': 'ALPL', 'score': 22.39}, {'connected_gene': 'RAP1GAP', 'score': 11.15}, {'connected_gene': 'ECE1', 'score': 10.67}, {'connected_gene': 'GC01P021552', 'score': 0.44}, {'connected_gene': 'GC01P021551', 'score': 0.44}, {'connected_gene': 'GC01P021510', 'score': 0.29}, {'connected_gene': 'GC01P021509', 'score': 0.29}]
chr1 GH01I021657 21657472 21658502 0.38 [{'connected_gene': 'ALPL', 'score': 11.52}, {'connected_gene': 'RAP1GAP', 'score': 0.39}, {'connected_gene': 'PIR35545', 'score': 0.22}]
chr1 GH01I021539 21539928 21540117 0.52 [{'connected_gene': 'ALPL', 'score': 21.22}, {'connected_gene': 'LOC105376834', 'score': 11.95}, {'connected_gene': 'RAP1GAP', 'score': 11.83}, {'connected_gene': 'NBPF3', 'score': 4.49}, {'connected_gene': 'GC01P021552', 'score': 0.39}, {'connected_gene': 'GC01P021551', 'score': 0.39}, {'connected_gene': 'GC01P021510', 'score': 0.29}, {'connected_gene': 'GC01P021509', 'score': 0.29}]
chr1 GH01I021564 21564297 21566472 0.65 [{'connected_gene': 'ALPL', 'score': 18.33}, {'connected_gene': 'LOC105376834', 'score': 17.71}, {'connected_gene': 'RAP1GAP', 'score': 12.92}, {'connected_gene': 'NBPF3', 'score': 5.03}, {'connected_gene': 'GC01P021552', 'score': 0.39}, {'connected_gene': 'GC01P021551', 'score': 0.39}]
chr1 GH01I021534 21534908 21535077 0.77 [{'connected_gene': 'ALPL', 'score': 12.49}, {'connected_gene': 'LOC105376834', 'score': 11.93}, {'connected_gene': 'RAP1GAP', 'score': 11.82}, {'connected_gene': 'GC01P021552', 'score': 0.37}, {'connected_gene': 'GC01P021551', 'score': 0.37}, {'connected_gene': 'GC01P021510', 'score': 0.31}, {'connected_gene': 'GC01P021509', 'score': 0.31}]
chr1 GH01I021537 21537340 21538957 0.98 [{'connected_gene': 'ALPL', 'score': 17.02}, {'connected_gene': 'LOC105376834', 'score': 11.95}, {'connected_gene': 'RAP1GAP', 'score': 11.82}, {'connected_gene': 'GC01P021552', 'score': 0.39}, {'connected_gene': 'GC01P021551', 'score': 0.39}, {'connected_gene': 'GC01P021510', 'score': 0.31}, {'connected_gene': 'GC01P021509', 'score': 0.31}]
chr1 GH01I021552 21552162 21554360 0.92 [{'connected_gene': 'ALPL', 'score': 16.63}, {'connected_gene': 'LOC105376834', 'score': 12.62}, {'connected_gene': 'RAP1GAP', 'score': 12.46}, {'connected_gene': 'ENSG00000236936', 'score': 10.03}, {'connected_gene': 'GC01P021552', 'score': 0.77}, {'connected_gene': 'GC01P021551', 'score': 0.77}]
chr1 GH01I021573 21573560 21575262 1.18 [{'connected_gene': 'ALPL', 'score': 10.36}, {'connected_gene': 'LOC105376834', 'score': 0.39}, {'connected_gene': 'GC01P021552', 'score': 0.34}, {'connected_gene': 'GC01P021551', 'score': 0.34}]
chr1 GH01I021566 21566703 21569513 0.76 [{'connected_gene': 'ALPL', 'score': 7.46}, {'connected_gene': 'LOC105376834', 'score': 0.37}, {'connected_gene': 'GC01P021552', 'score': 0.37}, {'connected_gene': 'GC01P021551', 'score': 0.37}]
chr1 GH01I021488 21488828 21488977 0.74 [{'connected_gene': 'ALPL', 'score': 12.53}, {'connected_gene': 'PIR31981', 'score': 0.77}, {'connected_gene': 'PIR52195', 'score': 0.44}]
chr1 GH01I021312 21312480 21331166 1.88 [{'connected_gene': 'ECE1', 'score': 32.2}, {'connected_gene': 'NBPF3', 'score': 17.93}, {'connected_gene': 'ENSG00000236936', 'score': 11.68}, {'connected_gene': 'EIF4G3', 'score': 11.33}, {'connected_gene': 'USP48', 'score': 10.6}, {'connected_gene': 'NBPF2P', 'score': 4.74}, {'connected_gene': 'ALPL', 'score': 2.16}, {'connected_gene': 'LOC100506801', 'score': 0.31}]
chr1 GH01I021331 21331602 21346770 2.9 [{'connected_gene': 'ECE1', 'score': 584.18}, {'connected_gene': 'HP1BP3', 'score': 100.88}, {'connected_gene': 'NBPF3', 'score': 64.56}, {'connected_gene': 'USP48', 'score': 59.01}, {'connected_gene': 'NBPF2P', 'score': 51.3}, {'connected_gene': 'CDC42-IT1', 'score': 20.29}, {'connected_gene': 'LDLRAD2', 'score': 11.49}, {'connected_gene': 'ENSG00000236936', 'score': 11.44}, {'connected_gene': 'HSPG2', 'score': 10.89}, {'connected_gene': 'MUL1', 'score': 10.78}, {'connected_gene': 'ENSG00000271428', 'score': 10.65}, {'connected_gene': 'DDOST', 'score': 10.26}, {'connected_gene': 'ALPL', 'score': 6.03}, {'connected_gene': 'EIF4G3', 'score': 4.9}, {'connected_gene': 'LOC100506801', 'score': 0.25}]
chr1 GH01I021378 21378891 21379766 0.57 [{'connected_gene': 'ECE1', 'score': 11.62}, {'connected_gene': 'ENSG00000236936', 'score': 11.46}, {'connected_gene': 'ALPL', 'score': 11.3}, {'connected_gene': 'PPP1R11P1', 'score': 0.37}]
chr1 GH01I021288 21288204 21297669 2.41 [{'connected_gene': 'ECE1', 'score': 567.41}, {'connected_gene': 'LOC100506801', 'score': 550.77}, {'connected_gene': 'ENSG00000236936', 'score': 12.65}, {'connected_gene': 'RAP1GAP', 'score': 10.29}, {'connected_gene': 'EIF4G3', 'score': 9.88}, {'connected_gene': 'NBPF2P', 'score': 4.6}, {'connected_gene': 'ALPL', 'score': 1.35}, {'connected_gene': 'GC01P021285', 'score': 0.44}]
chr1 GH01I021656 21656457 21657233 0.38 [{'connected_gene': 'LOC105376834', 'score': 12.08}, {'connected_gene': 'ALPL', 'score': 11.52}, {'connected_gene': 'ECE1', 'score': 10.42}, {'connected_gene': 'ENSG00000236936', 'score': 9.98}, {'connected_gene': 'RAP1GAP', 'score': 0.39}, {'connected_gene': 'PIR35545', 'score': 0.22}]
chr1 GH01I021468 21468668 21468877 0.57 [{'connected_gene': 'PIR41800', 'score': 550.77}, {'connected_gene': 'ALPL', 'score': 11.37}, {'connected_gene': 'NBPF3', 'score': 4.58}, {'connected_gene': 'PIR46788', 'score': 0.39}]
chr1 GH01I021509 21509128 21512737 2.04 [{'connected_gene': 'GC01P021510', 'score': 550.77}, {'connected_gene': 'ALPL', 'score': 550.77}, {'connected_gene': 'GC01P021509', 'score': 550.77}, {'connected_gene': 'NBPF2P', 'score': 4.88}, {'connected_gene': 'GC01P021552', 'score': 0.26}, {'connected_gene': 'GC01P021551', 'score': 0.26}]
chr1 GH01I021550 21550166 21550512 0.77 [{'connected_gene': 'GC01P021552', 'score': 550.77}, {'connected_gene': 'GC01P021551', 'score': 550.77}, {'connected_gene': 'ALPL', 'score': 25.81}, {'connected_gene': 'ECE1', 'score': 4.81}, {'connected_gene': 'EIF4G3', 'score': 2.66}, {'connected_gene': 'GC01P021510', 'score': 0.26}, {'connected_gene': 'GC01P021509', 'score': 0.26}]
chr1 GH01I021283 21283745 21285594 1.17 [{'connected_gene': 'GC01P021285', 'score': 550.77}, {'connected_gene': 'ECE1', 'score': 16.84}, {'connected_gene': 'EIF4G3', 'score': 4.56}, {'connected_gene': 'ALPL', 'score': 3.26}, {'connected_gene': 'GC01M021276', 'score': 0.44}]

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