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
ENST00000161863 [[112849379, 112849779], [112850968, 112851059], [112860677, 112860874], [112862282, 112862482], [112868575, 112868742], [112870001, 112870104], [112871338, 112871495], [112874770, 112874878], [112876664, 112876813], [112878064, 112878200], [112884237, 112884364], [112884651, 112884717], [112888877, 112889056], [112889286, 112889383], [112889463, 112889551], [112889638, 112889719], [112891748, 112891831], [112896776, 112896882], [112899069, 112899189], [112899555, 112899828], [112901589, 112901716], [112902788, 112902994], [112903350, 112903546], [112915282, 112915392], [112917113, 112917406], [112919998, 112920176], [112926737, 112926941], [112927692, 112927875], [112928999, 112929087], [112929178, 112930981]] [[112849592, 112849779], [112850968, 112851059], [112860677, 112860874], [112862282, 112862482], [112868575, 112868742], [112870001, 112870104], [112871338, 112871495], [112874770, 112874878], [112876664, 112876813], [112878064, 112878200], [112884237, 112884364], [112884651, 112884717], [112888877, 112889056], [112889286, 112889383], [112889463, 112889551], [112889638, 112889719], [112891748, 112891831], [112896776, 112896882], [112899069, 112899189], [112899555, 112899828], [112901589, 112901716], [112902788, 112902994], [112903350, 112903546], [112915282, 112915392], [112917113, 112917406], [112919998, 112920176], [112926737, 112926941], [112927692, 112927875], [112928999, 112929080]]
ENST00000503857 [[112849390, 112849779], [112850968, 112851059], [112868575, 112868742], [112870001, 112870104], [112871338, 112871495], [112874770, 112874878], [112876664, 112876813], [112878064, 112878200], [112884237, 112884364], [112884651, 112884717], [112888877, 112889056], [112889286, 112889383], [112889463, 112889551], [112889638, 112889719], [112891748, 112891831], [112896776, 112896893]] [[112849592, 112849779], [112850968, 112851059], [112868575, 112868594]]
ENST00000515883 [[112849405, 112849779], [112850968, 112851059], [112860677, 112860874], [112862282, 112862482], [112868575, 112868742], [112870001, 112870104], [112871338, 112871495], [112874770, 112874878], [112876664, 112876813], [112878064, 112878200], [112884237, 112884364], [112884651, 112884717], [112888877, 112889056], [112889286, 112889383], [112889463, 112889551], [112889638, 112889719], [112891748, 112892057]] [[112849592, 112849779], [112850968, 112851059], [112860677, 112860874], [112862282, 112862482], [112868575, 112868742], [112870001, 112870104], [112871338, 112871495], [112874770, 112874878], [112876664, 112876813], [112878064, 112878200], [112884237, 112884364], [112884651, 112884717], [112888877, 112889056], [112889286, 112889383], [112889463, 112889551], [112889638, 112889719], [112891748, 112891835]]
ENST00000514720 [[112849842, 112849972], [112850968, 112851059], [112860677, 112860874], [112862282, 112862400]] [[112849965, 112849972], [112850968, 112851059], [112860677, 112860874], [112862282, 112862400]]
ENST00000506333 [[112901415, 112901716], [112902788, 112902994], [112903350, 112903546], [112915282, 112915363]] None
ENST00000512600 [[112916962, 112920176], [112926737, 112926941], [112927692, 112930982]] None
ENST00000507567 [[112926854, 112926941], [112927692, 112928298]] None
NM_001345976 [[112849358, 112849779], [112850968, 112851059], [112868575, 112868742], [112870001, 112870104], [112871338, 112871495], [112874770, 112874878], [112876664, 112876813], [112878064, 112878200], [112884237, 112884364], [112884651, 112884717], [112888877, 112889056], [112889286, 112889383], [112889463, 112889551], [112889638, 112889719], [112891748, 112891831], [112896776, 112896882], [112899069, 112899189], [112899555, 112899828], [112901589, 112901716], [112902788, 112902994], [112903350, 112903546], [112915282, 112915392], [112917113, 112917406], [112919998, 112920176], [112926737, 112926941], [112927692, 112927875], [112928999, 112929087], [112929178, 112930984]] [[112870059, 112870104], [112871338, 112871495], [112874770, 112874878], [112876664, 112876813], [112878064, 112878200], [112884237, 112884364], [112884651, 112884717], [112888877, 112889056], [112889286, 112889383], [112889463, 112889551], [112889638, 112889719], [112891748, 112891831], [112896776, 112896882], [112899069, 112899189], [112899555, 112899828], [112901589, 112901716], [112902788, 112902994], [112903350, 112903546], [112915282, 112915392], [112917113, 112917406], [112919998, 112920176], [112926737, 112926941], [112927692, 112927875], [112928999, 112929080]]
NM_001345975 [[112849358, 112849779], [112850968, 112851059], [112862282, 112862482], [112868575, 112868742], [112870001, 112870104], [112871338, 112871495], [112874770, 112874878], [112876664, 112876813], [112878064, 112878200], [112884237, 112884364], [112884651, 112884717], [112888877, 112889056], [112889286, 112889383], [112889463, 112889551], [112889638, 112889719], [112891748, 112891831], [112896776, 112896882], [112899069, 112899189], [112899555, 112899828], [112901589, 112901716], [112902788, 112902994], [112903350, 112903546], [112915282, 112915392], [112917113, 112917406], [112919998, 112920176], [112926737, 112926941], [112927692, 112927875], [112928999, 112929087], [112929178, 112930984]] [[112862293, 112862482], [112868575, 112868742], [112870001, 112870104], [112871338, 112871495], [112874770, 112874878], [112876664, 112876813], [112878064, 112878200], [112884237, 112884364], [112884651, 112884717], [112888877, 112889056], [112889286, 112889383], [112889463, 112889551], [112889638, 112889719], [112891748, 112891831], [112896776, 112896882], [112899069, 112899189], [112899555, 112899828], [112901589, 112901716], [112902788, 112902994], [112903350, 112903546], [112915282, 112915392], [112917113, 112917406], [112919998, 112920176], [112926737, 112926941], [112927692, 112927875], [112928999, 112929080]]
NM_022828 [[112849358, 112849779], [112850968, 112851059], [112860677, 112860874], [112862282, 112862482], [112868575, 112868742], [112870001, 112870104], [112871338, 112871495], [112874770, 112874878], [112876664, 112876813], [112878064, 112878200], [112884237, 112884364], [112884651, 112884717], [112888877, 112889056], [112889286, 112889383], [112889463, 112889551], [112889638, 112889719], [112891748, 112891831], [112896776, 112896882], [112899069, 112899189], [112899555, 112899828], [112901589, 112901716], [112902788, 112902994], [112903350, 112903546], [112915282, 112915392], [112917113, 112917406], [112919998, 112920176], [112926737, 112926941], [112927692, 112927875], [112928999, 112929087], [112929178, 112930984]] [[112849592, 112849779], [112850968, 112851059], [112860677, 112860874], [112862282, 112862482], [112868575, 112868742], [112870001, 112870104], [112871338, 112871495], [112874770, 112874878], [112876664, 112876813], [112878064, 112878200], [112884237, 112884364], [112884651, 112884717], [112888877, 112889056], [112889286, 112889383], [112889463, 112889551], [112889638, 112889719], [112891748, 112891831], [112896776, 112896882], [112899069, 112899189], [112899555, 112899828], [112901589, 112901716], [112902788, 112902994], [112903350, 112903546], [112915282, 112915392], [112917113, 112917406], [112919998, 112920176], [112926737, 112926941], [112927692, 112927875], [112928999, 112929080]]
Promoter
Chrom Start End Description
chr5 112849373 112849416 CAGE_peak_1_at_YTHDC2_5end
chr5 112849517 112849538 CAGE_peak_2_at_YTHDC2_5end
chr5 112849573 112849584 CAGE_peak_5_at_YTHDC2_5end
chr5 112929801 112929814 CAGE_peak_3_at_YTHDC2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I112920 112920303 112925534 2.23 [{'connected_gene': 'REEP5', 'score': 565.88}, {'connected_gene': 'LOC105379123', 'score': 550.77}, {'connected_gene': 'SRP19', 'score': 20.01}, {'connected_gene': 'YTHDC2', 'score': 16.45}, {'connected_gene': 'ENSG00000251187', 'score': 4.06}, {'connected_gene': 'GC05P112932', 'score': 0.44}]
chr5 GH05I112860 112860611 112862867 2.07 [{'connected_gene': 'SRP19', 'score': 585.46}, {'connected_gene': 'ENSG00000272869', 'score': 550.77}, {'connected_gene': 'YTHDC2', 'score': 13.21}, {'connected_gene': 'APC', 'score': 5.83}, {'connected_gene': 'GC05P112886', 'score': 0.34}, {'connected_gene': 'XBP1P1', 'score': 0.34}, {'connected_gene': 'ENSG00000258864', 'score': 0.29}]
chr5 GH05I113425 113425921 113428893 0.31 [{'connected_gene': 'YTHDC2', 'score': 6.59}, {'connected_gene': 'PIR36574', 'score': 0.44}, {'connected_gene': 'TSSK1B', 'score': 0.44}, {'connected_gene': 'GC05M113418', 'score': 0.44}, {'connected_gene': 'MCC', 'score': 0.21}, {'connected_gene': 'ENSG00000232633', 'score': 0.15}]
chr5 GH05I112962 112962858 112964764 1.14 [{'connected_gene': 'YTHDC2', 'score': 42.78}, {'connected_gene': 'SRP19', 'score': 15.46}, {'connected_gene': 'SNORA13', 'score': 12.19}, {'connected_gene': 'REEP5', 'score': 4.69}, {'connected_gene': 'GC05M112939', 'score': 0.77}, {'connected_gene': 'LOC105379126', 'score': 0.39}]
chr5 GH05I113033 113033503 113035566 0.69 [{'connected_gene': 'YTHDC2', 'score': 10.0}, {'connected_gene': 'MCC', 'score': 6.32}, {'connected_gene': 'DCP2', 'score': 5.17}, {'connected_gene': 'REEP5', 'score': 4.84}, {'connected_gene': 'GC05P113027', 'score': 0.44}, {'connected_gene': 'GC05M113056', 'score': 0.29}]
chr5 GH05I113241 113241420 113244389 0.46 [{'connected_gene': 'YTHDC2', 'score': 8.41}, {'connected_gene': 'MCC', 'score': 6.75}, {'connected_gene': 'PIR40347', 'score': 0.44}, {'connected_gene': 'GC05M113150', 'score': 0.2}]
chr5 GH05I113245 113245455 113247404 0.89 [{'connected_gene': 'YTHDC2', 'score': 6.97}, {'connected_gene': 'MCC', 'score': 6.79}, {'connected_gene': 'PIR40347', 'score': 0.77}, {'connected_gene': 'GC05M113150', 'score': 0.19}]
chr5 GH05I113230 113230619 113233203 0.94 [{'connected_gene': 'YTHDC2', 'score': 5.45}, {'connected_gene': 'MCC', 'score': 4.69}, {'connected_gene': 'PIR40347', 'score': 0.37}, {'connected_gene': 'GC05M113150', 'score': 0.22}]
chr5 GH05I113202 113202632 113206168 1.41 [{'connected_gene': 'YTHDC2', 'score': 39.38}, {'connected_gene': 'GC05M113150', 'score': 0.31}, {'connected_gene': 'PIR40347', 'score': 0.25}, {'connected_gene': 'MCC', 'score': 0.06}]
chr5 GH05I113371 113371884 113371953 0.2 [{'connected_gene': 'YTHDC2', 'score': 5.4}, {'connected_gene': 'PIR36574', 'score': 0.25}, {'connected_gene': 'ENSG00000232633', 'score': 0.25}, {'connected_gene': 'GC05M113418', 'score': 0.25}, {'connected_gene': 'MCC', 'score': 0.13}]
chr5 GH05I113197 113197532 113198445 0.64 [{'connected_gene': 'YTHDC2', 'score': 10.21}, {'connected_gene': 'GC05M113150', 'score': 0.34}, {'connected_gene': 'PIR40347', 'score': 0.23}, {'connected_gene': 'MCC', 'score': 0.06}]
chr5 GH05I113275 113275789 113275991 0.4 [{'connected_gene': 'YTHDC2', 'score': 4.93}, {'connected_gene': 'DCP2', 'score': 4.64}, {'connected_gene': 'PIR40347', 'score': 0.31}, {'connected_gene': 'ENSG00000232633', 'score': 0.25}, {'connected_gene': 'MCC', 'score': 0.08}]
chr5 GH05I113344 113344916 113346140 0.31 [{'connected_gene': 'YTHDC2', 'score': 20.47}, {'connected_gene': 'ENSG00000232633', 'score': 11.98}, {'connected_gene': 'RNU4ATAC13P', 'score': 10.95}, {'connected_gene': 'PIR36574', 'score': 0.19}, {'connected_gene': 'GC05M113418', 'score': 0.19}, {'connected_gene': 'MCC', 'score': 0.11}]
chr5 GH05I113692 113692387 113694227 0.49 [{'connected_gene': 'YTHDC2', 'score': 4.53}, {'connected_gene': 'GC05P113718', 'score': 0.31}, {'connected_gene': 'PIR50010', 'score': 0.23}, {'connected_gene': 'GC05M113641', 'score': 0.23}]
chr5 GH05I113606 113606401 113606800 0.8 [{'connected_gene': 'YTHDC2', 'score': 20.66}, {'connected_gene': 'GC05M113600', 'score': 0.77}, {'connected_gene': 'PIR50010', 'score': 0.29}, {'connected_gene': 'GC05M113641', 'score': 0.29}]
chr5 GH05I113524 113524556 113525739 0.51 [{'connected_gene': 'YTHDC2', 'score': 10.92}, {'connected_gene': 'GC05M113600', 'score': 0.18}]
chr5 GH05I113546 113546578 113547053 0.31 [{'connected_gene': 'YTHDC2', 'score': 16.77}, {'connected_gene': 'GC05M113600', 'score': 0.23}]
chr5 GH05I113513 113513001 113514938 2.07 [{'connected_gene': 'YTHDC2', 'score': 561.73}, {'connected_gene': 'GC05M113600', 'score': 0.17}]
chr5 GH05I113574 113574179 113575113 0.31 [{'connected_gene': 'YTHDC2', 'score': 21.61}, {'connected_gene': 'GC05M113600', 'score': 0.31}]
chr5 GH05I113515 113515401 113515600 0.38 [{'connected_gene': 'YTHDC2', 'score': 562.16}, {'connected_gene': 'GC05M113600', 'score': 0.17}]
chr5 GH05I112706 112706520 112709582 2.04 [{'connected_gene': 'APC', 'score': 559.61}, {'connected_gene': 'REEP5', 'score': 10.69}, {'connected_gene': 'YTHDC2', 'score': 10.08}, {'connected_gene': 'RNU6-482P', 'score': 10.07}, {'connected_gene': 'CBX3P3', 'score': 10.07}, {'connected_gene': 'ZRSR2P1', 'score': 4.97}]
chr5 GH05I112737 112737058 112738763 2.02 [{'connected_gene': 'APC', 'score': 557.24}, {'connected_gene': 'REEP5', 'score': 11.8}, {'connected_gene': 'YTHDC2', 'score': 9.95}, {'connected_gene': 'CBX3P3', 'score': 0.26}]
chr5 GH05I113487 113487225 113490311 1.99 [{'connected_gene': 'MCC', 'score': 550.77}, {'connected_gene': 'YTHDC2', 'score': 42.44}, {'connected_gene': 'ENSG00000272389', 'score': 9.95}, {'connected_gene': 'TSSK1B', 'score': 0.23}]
chr5 GH05I113046 113046924 113048600 1.44 [{'connected_gene': 'MCC', 'score': 14.65}, {'connected_gene': 'YTHDC2', 'score': 8.18}, {'connected_gene': 'DCP2', 'score': 3.06}, {'connected_gene': 'GC05P113027', 'score': 0.37}, {'connected_gene': 'GC05M113056', 'score': 0.37}]
chr5 GH05I113330 113330664 113331757 0.88 [{'connected_gene': 'MCC', 'score': 11.37}, {'connected_gene': 'YTHDC2', 'score': 10.88}, {'connected_gene': 'RNU4ATAC13P', 'score': 10.88}, {'connected_gene': 'ENSG00000232633', 'score': 0.44}, {'connected_gene': 'PIR36574', 'score': 0.17}, {'connected_gene': 'GC05M113418', 'score': 0.17}]
chr5 GH05I113520 113520524 113520673 0.72 [{'connected_gene': 'MCC', 'score': 10.93}, {'connected_gene': 'YTHDC2', 'score': 0.44}, {'connected_gene': 'GC05M113600', 'score': 0.18}]
chr5 GH05I113292 113292717 113295724 2.11 [{'connected_gene': 'MCC', 'score': 557.6}, {'connected_gene': 'ENSG00000232633', 'score': 12.67}, {'connected_gene': 'YTHDC2', 'score': 8.28}, {'connected_gene': 'PIR40347', 'score': 0.26}]
chr5 GH05I112973 112973244 112980608 2.12 [{'connected_gene': 'DCP2', 'score': 570.02}, {'connected_gene': 'LOC105379126', 'score': 550.77}, {'connected_gene': 'YTHDC2', 'score': 42.2}, {'connected_gene': 'MCC', 'score': 18.02}, {'connected_gene': 'PIR41975', 'score': 0.26}]
chr5 GH05I112958 112958058 112962255 1.14 [{'connected_gene': 'GC05M112939', 'score': 550.77}, {'connected_gene': 'SRP19', 'score': 18.34}, {'connected_gene': 'YTHDC2', 'score': 9.69}, {'connected_gene': 'REEP5', 'score': 4.7}, {'connected_gene': 'LOC105379126', 'score': 0.37}]
chr5 GH05I113249 113249153 113251988 0.97 [{'connected_gene': 'PIR40347', 'score': 550.77}, {'connected_gene': 'MCC', 'score': 7.43}, {'connected_gene': 'YTHDC2', 'score': 4.34}, {'connected_gene': 'ENSG00000232633', 'score': 0.19}]
chr5 GH05I113263 113263602 113272343 1.28 [{'connected_gene': 'ENSG00000270067', 'score': 13.12}, {'connected_gene': 'ENSG00000232633', 'score': 11.23}, {'connected_gene': 'ENSG00000272389', 'score': 9.91}, {'connected_gene': 'MCC', 'score': 7.54}, {'connected_gene': 'YTHDC2', 'score': 4.47}, {'connected_gene': 'PIR40347', 'score': 0.37}]

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