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
ENST00000393125 [[105480755, 105481155], [105481634, 105481812], [105483002, 105483161], [105623706, 105623946], [105732749, 105732934], [105758244, 105758298], [105768994, 105769153], [105774539, 105774707], [105775922, 105776027], [105781160, 105781271], [105782601, 105783836]] [[105481724, 105481812], [105483002, 105483161], [105623706, 105623946], [105732749, 105732934], [105758244, 105758298], [105768994, 105769153], [105774539, 105774707], [105775922, 105776027], [105781160, 105781271], [105782601, 105782634]]
ENST00000393127 [[105480799, 105481155], [105481634, 105481812], [105483002, 105483161], [105623706, 105623946], [105732749, 105732934], [105758244, 105758298], [105768994, 105769153], [105774539, 105774707], [105775922, 105776027], [105781160, 105781271], [105789437, 105789644], [105795124, 105795495], [105797466, 105797665], [105804447, 105804695], [105836673, 105836788], [105845036, 105845284], [105850301, 105852819]] [[105481724, 105481812], [105483002, 105483161], [105623706, 105623946], [105732749, 105732934], [105758244, 105758298], [105768994, 105769153], [105774539, 105774707], [105775922, 105776027], [105781160, 105781271], [105789437, 105789644], [105795124, 105795495], [105797466, 105797665], [105804447, 105804695], [105836673, 105836788], [105845036, 105845282]]
ENST00000282499 [[105480799, 105481155], [105481634, 105481812], [105483002, 105483161], [105623706, 105623946], [105732749, 105732934], [105758244, 105758298], [105768994, 105769153], [105774539, 105774707], [105775922, 105776027], [105781160, 105781271], [105789437, 105789644], [105795124, 105795495], [105797466, 105797665], [105804447, 105804695], [105842640, 105842755], [105845036, 105845171], [105850301, 105852819]] [[105481724, 105481812], [105483002, 105483161], [105623706, 105623946], [105732749, 105732934], [105758244, 105758298], [105768994, 105769153], [105774539, 105774707], [105775922, 105776027], [105781160, 105781271], [105789437, 105789644], [105795124, 105795495], [105797466, 105797665], [105804447, 105804695], [105842640, 105842755], [105845036, 105845171], [105850301, 105850466]]
ENST00000525032 [[105481398, 105481812], [105483002, 105483161], [105623706, 105623946], [105732749, 105733375]] None
ENST00000428631 [[105481450, 105481812], [105483002, 105483161], [105623706, 105623946], [105732749, 105732934], [105758244, 105758298], [105768994, 105769153], [105774539, 105774707], [105775922, 105776027], [105781160, 105781271], [105782601, 105783836]] [[105481724, 105481812], [105483002, 105483161], [105623706, 105623946], [105732749, 105732934], [105758244, 105758298], [105768994, 105769153], [105774539, 105774707], [105775922, 105776027], [105781160, 105781271], [105782601, 105782634]]
ENST00000531011 [[105481633, 105481812], [105483002, 105483161], [105623706, 105623946], [105668451, 105668639]] [[105481724, 105481812], [105483002, 105483161], [105623706, 105623946], [105668451, 105668639]]
ENST00000525187 [[105481724, 105481812], [105483002, 105483161], [105623706, 105623946], [105732749, 105732934], [105758244, 105758298], [105768994, 105769153], [105774539, 105774707], [105775922, 105776027], [105781160, 105781271], [105789437, 105789644], [105795124, 105795495], [105797466, 105797665], [105804447, 105804695], [105836673, 105836788], [105845036, 105845284], [105850301, 105850466]] [[105481724, 105481812], [105483002, 105483161], [105623706, 105623946], [105732749, 105732934], [105758244, 105758298], [105768994, 105769153], [105774539, 105774707], [105775922, 105776027], [105781160, 105781271], [105789437, 105789644], [105795124, 105795495], [105797466, 105797665], [105804447, 105804695], [105836673, 105836788], [105845036, 105845282]]
ENST00000530497 [[105481724, 105481812], [105483002, 105483161], [105623706, 105623946], [105732749, 105732934], [105758244, 105758298], [105768994, 105769153], [105774539, 105774707], [105775922, 105776027], [105781160, 105781271], [105789437, 105789644], [105795124, 105795495], [105797466, 105797665], [105804447, 105804695], [105842640, 105842755], [105845036, 105845171], [105850301, 105852816]] [[105481724, 105481812], [105483002, 105483161], [105623706, 105623946], [105732749, 105732934], [105758244, 105758298], [105768994, 105769153], [105774539, 105774707], [105775922, 105776027], [105781160, 105781271], [105789437, 105789644], [105795124, 105795495], [105797466, 105797665], [105804447, 105804695], [105842640, 105842755], [105845036, 105845171], [105850301, 105850466]]
ENST00000527177 [[105480720, 105480750], [105481634, 105481812], [105483002, 105483161]] [[105481724, 105481812], [105483002, 105483161]]
ENST00000531986 [[105480788, 105481155], [105481664, 105481812], [105483002, 105483166]] [[105481724, 105481812], [105483002, 105483166]]
ENST00000527669 [[105480847, 105481155], [105481634, 105481812], [105483002, 105485163]] [[105481724, 105481812], [105483002, 105483169]]
ENST00000525921 [[105480992, 105481155], [105481664, 105481812], [105483002, 105483161]] [[105481724, 105481812], [105483002, 105483161]]
ENST00000527687 [[105713508, 105713638], [105732749, 105732934], [105758244, 105758298], [105768994, 105769153], [105774539, 105774709]] None
ENST00000525942 [[105804533, 105804695], [105836673, 105836788], [105842640, 105842755], [105845036, 105845157]] [[105804533, 105804695], [105836673, 105836788], [105842640, 105842676]]
ENST00000533094 [[105804667, 105804695], [105816189, 105816228], [105836673, 105836788], [105845036, 105845284], [105850301, 105850988]] None
NM_001077244 [[105480799, 105481155], [105481634, 105481812], [105483002, 105483161], [105623706, 105623946], [105732749, 105732934], [105758244, 105758298], [105768994, 105769153], [105774539, 105774707], [105775922, 105776027], [105781160, 105781271], [105782601, 105784231]] [[105481724, 105481812], [105483002, 105483161], [105623706, 105623946], [105732749, 105732934], [105758244, 105758298], [105768994, 105769153], [105774539, 105774707], [105775922, 105776027], [105781160, 105781271], [105782601, 105782634]]
NM_000829 [[105480799, 105481155], [105481634, 105481812], [105483002, 105483161], [105623706, 105623946], [105732749, 105732934], [105758244, 105758298], [105768994, 105769153], [105774539, 105774707], [105775922, 105776027], [105781160, 105781271], [105789437, 105789644], [105795124, 105795495], [105797466, 105797665], [105804447, 105804695], [105842640, 105842755], [105845036, 105845171], [105850301, 105852819]] [[105481724, 105481812], [105483002, 105483161], [105623706, 105623946], [105732749, 105732934], [105758244, 105758298], [105768994, 105769153], [105774539, 105774707], [105775922, 105776027], [105781160, 105781271], [105789437, 105789644], [105795124, 105795495], [105797466, 105797665], [105804447, 105804695], [105842640, 105842755], [105845036, 105845171], [105850301, 105850466]]
NM_001077243 [[105480799, 105481155], [105481634, 105481812], [105483002, 105483161], [105623706, 105623946], [105732749, 105732934], [105758244, 105758298], [105768994, 105769153], [105774539, 105774707], [105775922, 105776027], [105781160, 105781271], [105789437, 105789644], [105795124, 105795495], [105797466, 105797665], [105804447, 105804695], [105836673, 105836788], [105845036, 105845284], [105850301, 105852819]] [[105481724, 105481812], [105483002, 105483161], [105623706, 105623946], [105732749, 105732934], [105758244, 105758298], [105768994, 105769153], [105774539, 105774707], [105775922, 105776027], [105781160, 105781271], [105789437, 105789644], [105795124, 105795495], [105797466, 105797665], [105804447, 105804695], [105836673, 105836788], [105845036, 105845282]]
NM_001112812 [[105481410, 105481812], [105483002, 105483161], [105623706, 105623946], [105732749, 105732934], [105758244, 105758298], [105768994, 105769153], [105774539, 105774707], [105775922, 105776027], [105781160, 105781271], [105782601, 105784231]] [[105481724, 105481812], [105483002, 105483161], [105623706, 105623946], [105732749, 105732934], [105758244, 105758298], [105768994, 105769153], [105774539, 105774707], [105775922, 105776027], [105781160, 105781271], [105782601, 105782634]]
NR_046356 [[105481410, 105481812], [105483002, 105483161], [105623706, 105623946], [105732749, 105732934], [105758244, 105758298], [105768994, 105769153], [105774539, 105774707], [105775922, 105776027], [105781160, 105781271], [105789437, 105789644], [105795124, 105795495], [105797466, 105797665], [105804447, 105804695], [105816189, 105816228], [105842640, 105842755], [105845036, 105845171], [105850301, 105852819]] None
Promoter
Chrom Start End Description
chr11 105480715 105480735 CAGE_peak_6_at_GRIA4_5end
chr11 105480740 105480750 CAGE_peak_9_at_GRIA4_5end
chr11 105480770 105480791 CAGE_peak_4_at_GRIA4_5end
chr11 105480793 105480845 CAGE_peak_3_at_GRIA4_5end
chr11 105480854 105480865 CAGE_peak_5_at_GRIA4_5end
chr11 105480958 105480979 CAGE_peak_7_at_GRIA4_5end
chr11 105480996 105481007 CAGE_peak_13_at_GRIA4_5end
chr11 105481033 105481053 CAGE_peak_8_at_GRIA4_5end
chr11 105481109 105481122 CAGE_peak_12_at_GRIA4_5end
chr11 105481376 105481381 CAGE_peak_11_at_GRIA4_5end
chr11 105481393 105481404 CAGE_peak_10_at_GRIA4_5end
chr11 105481405 105481472 CAGE_peak_1_at_GRIA4_5end
chr11 105481612 105481624 CAGE_peak_2_at_GRIA4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I105208 105208089 105208344 0.32 [{'connected_gene': 'CARD17', 'score': 24.71}, {'connected_gene': 'CASP5', 'score': 6.95}, {'connected_gene': 'CASP4', 'score': 6.35}, {'connected_gene': 'CARD16', 'score': 5.6}, {'connected_gene': 'GRIA4', 'score': 4.14}, {'connected_gene': 'GC11P105198', 'score': 0.39}, {'connected_gene': 'ENSG00000255336', 'score': 0.28}, {'connected_gene': 'LOC105369468', 'score': 0.06}]
chr11 GH11I105243 105243239 105246157 1.13 [{'connected_gene': 'CARD17', 'score': 8.15}, {'connected_gene': 'GRIA4', 'score': 4.19}, {'connected_gene': 'CASP1', 'score': 4.16}, {'connected_gene': 'CARD16', 'score': 2.63}, {'connected_gene': 'CASP4', 'score': 2.16}, {'connected_gene': 'CASP5', 'score': 1.44}, {'connected_gene': 'ENSG00000255336', 'score': 0.77}, {'connected_gene': 'GC11P105198', 'score': 0.25}, {'connected_gene': 'LOC105369468', 'score': 0.06}]
chr11 GH11I105645 105645995 105646391 0.22 [{'connected_gene': 'GRIA4', 'score': 2.19}, {'connected_gene': 'MSANTD4', 'score': 1.78}, {'connected_gene': 'HSPD1P13', 'score': 0.21}]
chr11 GH11I105642 105642534 105642557 0.26 [{'connected_gene': 'GRIA4', 'score': 12.76}, {'connected_gene': 'MSANTD4', 'score': 1.45}, {'connected_gene': 'HSPD1P13', 'score': 0.21}]
chr11 GH11I105609 105609674 105612903 1.57 [{'connected_gene': 'GRIA4', 'score': 550.77}, {'connected_gene': 'AASDHPPT', 'score': 4.73}, {'connected_gene': 'HSPD1P13', 'score': 0.15}]
chr11 GH11I105803 105803842 105804259 0.27 [{'connected_gene': 'GRIA4', 'score': 5.24}, {'connected_gene': 'KBTBD3', 'score': 3.17}, {'connected_gene': 'MSANTD4', 'score': 2.0}, {'connected_gene': 'AASDHPPT', 'score': 1.11}, {'connected_gene': 'RNU4-55P', 'score': 0.34}, {'connected_gene': 'HSPD1P13', 'score': 0.15}]
chr11 GH11I105708 105708465 105708530 0.25 [{'connected_gene': 'GRIA4', 'score': 11.17}, {'connected_gene': 'KBTBD3', 'score': 5.26}, {'connected_gene': 'MSANTD4', 'score': 1.93}, {'connected_gene': 'HSPD1P13', 'score': 0.77}, {'connected_gene': 'RNU4-55P', 'score': 0.13}]
chr11 GH11I106447 106447282 106448041 0.31 [{'connected_gene': 'GRIA4', 'score': 4.44}, {'connected_gene': 'LOC105369474', 'score': 0.18}, {'connected_gene': 'GC11M106674', 'score': 0.07}]
chr11 GH11I105610 105609394 105609600 0.63 [{'connected_gene': 'GRIA4', 'score': 550.77}, {'connected_gene': 'LOC105369468', 'score': 0.2}]
chr11 GH11I105515 105515246 105516840 0.8 [{'connected_gene': 'GRIA4', 'score': 7.32}, {'connected_gene': 'LOC105369468', 'score': 0.31}, {'connected_gene': 'PIR34838', 'score': 0.26}]
chr11 GH11I105389 105389824 105390565 0.2 [{'connected_gene': 'GRIA4', 'score': 6.49}, {'connected_gene': 'ENSG00000278640', 'score': 0.28}, {'connected_gene': 'PIR34838', 'score': 0.18}, {'connected_gene': 'LOC105369468', 'score': 0.1}]
chr11 GH11I105718 105718569 105720219 0.86 [{'connected_gene': 'GRIA4', 'score': 1.86}, {'connected_gene': 'HSPD1P13', 'score': 0.39}, {'connected_gene': 'RNU4-55P', 'score': 0.14}]
chr11 GH11I105613 105613094 105613383 0.2 [{'connected_gene': 'GRIA4', 'score': 0.77}, {'connected_gene': 'HSPD1P13', 'score': 0.16}]
chr11 GH11I105935 105935395 105936263 0.31 [{'connected_gene': 'RNU6-277P', 'score': 11.2}, {'connected_gene': 'GC11M105961', 'score': 0.34}, {'connected_gene': 'PIR47658', 'score': 0.34}, {'connected_gene': 'RNU4-55P', 'score': 0.14}, {'connected_gene': 'GRIA4', 'score': 0.05}]
chr11 GH11I105937 105937649 105938129 0.46 [{'connected_gene': 'GC11M105961', 'score': 0.34}, {'connected_gene': 'PIR47658', 'score': 0.34}, {'connected_gene': 'RNU4-55P', 'score': 0.14}, {'connected_gene': 'GRIA4', 'score': 0.05}]
chr11 GH11I105915 105915001 105915200 0.2 [{'connected_gene': 'GC11M105961', 'score': 0.25}, {'connected_gene': 'PIR47658', 'score': 0.25}, {'connected_gene': 'RNU4-55P', 'score': 0.16}, {'connected_gene': 'GRIA4', 'score': 0.06}]
chr11 GH11I105960 105960054 105960959 0.72 [{'connected_gene': 'GC11M105961', 'score': 550.77}, {'connected_gene': 'PIR47658', 'score': 550.77}, {'connected_gene': 'RNU4-55P', 'score': 0.12}, {'connected_gene': 'GRIA4', 'score': 0.05}]
chr11 GH11I105938 105937455 105937644 0.46 [{'connected_gene': 'GC11M105961', 'score': 0.34}, {'connected_gene': 'PIR47658', 'score': 0.34}, {'connected_gene': 'RNU4-55P', 'score': 0.14}, {'connected_gene': 'GRIA4', 'score': 0.05}]
chr11 GH11I105910 105910355 105910464 0.38 [{'connected_gene': 'GC11M105961', 'score': 0.23}, {'connected_gene': 'PIR47658', 'score': 0.23}, {'connected_gene': 'RNU4-55P', 'score': 0.17}, {'connected_gene': 'GRIA4', 'score': 0.06}]

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