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
ENST00000496383 [[8865689, 8865729], [8867016, 8867073], [8873573, 8873810], [8874784, 8874883], [8876997, 8877129], [8890241, 8890465], [8891595, 8891774], [8910799, 8910962], [8916877, 8917022], [8918768, 8918857], [8919025, 8919269], [8919803, 8919944], [8925870, 8926160], [8926335, 8926487], [8928776, 8928942], [8930009, 8930189], [8931189, 8931354], [8933939, 8934117], [8936900, 8936999], [8938331, 8938430], [8940529, 8940628], [8943059, 8943101]] [[8867022, 8867073], [8873573, 8873810], [8874784, 8874883], [8876997, 8877129], [8890241, 8890465], [8891595, 8891774], [8910799, 8910962], [8916877, 8917022], [8918768, 8918857], [8919025, 8919269], [8919803, 8919944], [8925870, 8926160], [8926335, 8926487], [8928776, 8928942], [8930009, 8930189], [8931189, 8931354], [8933939, 8934117], [8936900, 8936999], [8938331, 8938430], [8940529, 8940628], [8943059, 8943101]]
ENST00000418530 [[8868986, 8872112], [8873573, 8873810], [8874784, 8874883], [8876997, 8877129], [8890241, 8890465], [8891595, 8891774], [8910799, 8910962], [8916877, 8917022], [8918768, 8918857], [8919025, 8919269], [8919803, 8919944], [8925870, 8926160], [8926335, 8926487], [8928776, 8928942], [8930009, 8930189], [8931189, 8931354], [8933939, 8934117], [8936900, 8936999], [8938331, 8938430], [8940529, 8940628], [8943059, 8943257], [8946400, 8946499], [8952524, 8952623], [8953366, 8953465], [8957747, 8957846], [8958824, 8958923], [8967115, 8967259], [8977609, 8977755]] [[8870849, 8872112], [8873573, 8873810], [8874784, 8874883], [8876997, 8877129], [8890241, 8890465], [8891595, 8891774], [8910799, 8910962], [8916877, 8917022], [8918768, 8918857], [8919025, 8919269], [8919803, 8919944], [8925870, 8926160], [8926335, 8926487], [8928776, 8928942], [8930009, 8930189], [8931189, 8931354], [8933939, 8934117], [8936900, 8936999], [8938331, 8938430], [8940529, 8940628], [8943059, 8943257], [8946400, 8946499], [8952524, 8952623], [8953366, 8953465], [8957747, 8957846], [8958824, 8958905]]
ENST00000256707 [[8868986, 8872112], [8873573, 8873810], [8874784, 8874883], [8876997, 8877129], [8887274, 8887331], [8888016, 8888130], [8890241, 8890465], [8891595, 8891774], [8910799, 8910962], [8916877, 8917022], [8918768, 8918857], [8919025, 8919269], [8919803, 8919944], [8925870, 8926160], [8926335, 8926487], [8928776, 8928942], [8930009, 8930189], [8931189, 8931354], [8933939, 8934117], [8936900, 8936999], [8938331, 8938430], [8940529, 8940628], [8943059, 8943257], [8946400, 8946499], [8952524, 8952623], [8953366, 8953465], [8957747, 8957846], [8958824, 8958923], [8967115, 8967259], [8977609, 8977755]] [[8870849, 8872112], [8873573, 8873810], [8874784, 8874883], [8876997, 8877129], [8887274, 8887331], [8888016, 8888130], [8890241, 8890465], [8891595, 8891774], [8910799, 8910962], [8916877, 8917022], [8918768, 8918857], [8919025, 8919269], [8919803, 8919944], [8925870, 8926160], [8926335, 8926487], [8928776, 8928942], [8930009, 8930189], [8931189, 8931354], [8933939, 8934117], [8936900, 8936999], [8938331, 8938430], [8940529, 8940628], [8943059, 8943257], [8946400, 8946499], [8952524, 8952623], [8953366, 8953465], [8957747, 8957846], [8958824, 8958923], [8967115, 8967223]]
ENST00000427284 [[8868986, 8872112], [8873573, 8873810], [8874784, 8874883], [8876997, 8877129], [8888016, 8888130], [8890241, 8890465], [8891595, 8891774], [8910799, 8910962], [8916877, 8917022], [8918768, 8918857], [8919025, 8919269], [8919803, 8919944], [8925870, 8926160], [8926335, 8926487], [8928776, 8928942], [8930009, 8930189], [8931189, 8931354], [8933939, 8934117], [8936900, 8936999], [8938331, 8938430], [8940529, 8940628], [8943059, 8943257], [8946400, 8946499], [8952524, 8952623], [8953366, 8953465], [8957747, 8957846], [8958824, 8958923], [8967115, 8967259], [8977609, 8977755]] [[8870849, 8872112], [8873573, 8873810], [8874784, 8874883], [8876997, 8877129], [8888016, 8888130], [8890241, 8890465], [8891595, 8891774], [8910799, 8910962], [8916877, 8917022], [8918768, 8918857], [8919025, 8919269], [8919803, 8919944], [8925870, 8926160], [8926335, 8926487], [8928776, 8928942], [8930009, 8930189], [8931189, 8931354], [8933939, 8934117], [8936900, 8936999], [8938331, 8938430], [8940529, 8940628], [8943059, 8943257], [8946400, 8946499], [8952524, 8952623], [8953366, 8953465], [8957747, 8957846], [8958824, 8958923], [8967115, 8967223]]
ENST00000473731 [[8869058, 8872112], [8873573, 8873810], [8874784, 8874883], [8876997, 8877129], [8888016, 8888130], [8890241, 8890465], [8891595, 8891774], [8910799, 8910962], [8916877, 8917022], [8918768, 8918857], [8919025, 8919269], [8919803, 8919944], [8925870, 8926160], [8926335, 8926487], [8928776, 8928942], [8930009, 8930189], [8931189, 8931354], [8933939, 8934117], [8936900, 8936999], [8938331, 8938430], [8940529, 8940628], [8943059, 8943257], [8946400, 8946499], [8952524, 8952623], [8953366, 8953465], [8957747, 8957846], [8958824, 8958923], [8967115, 8967259], [8977598, 8977760]] [[8870849, 8872112], [8873573, 8873810], [8874784, 8874883], [8876997, 8877129], [8888016, 8888130], [8890241, 8890465], [8891595, 8891774], [8910799, 8910962], [8916877, 8917022], [8918768, 8918857], [8919025, 8919269], [8919803, 8919944], [8925870, 8926160], [8926335, 8926487], [8928776, 8928942], [8930009, 8930189], [8931189, 8931354], [8933939, 8934117], [8936900, 8936999], [8938331, 8938430], [8940529, 8940628], [8943059, 8943257], [8946400, 8946499], [8952524, 8952623], [8953366, 8953465], [8957747, 8957846], [8958824, 8958923], [8967115, 8967223]]
ENST00000488729 [[8870330, 8872112], [8873573, 8873810], [8874784, 8874883], [8876997, 8877129], [8890241, 8890465], [8891595, 8891774], [8910799, 8910962], [8916877, 8917022], [8918768, 8918857], [8919025, 8919269], [8919803, 8919944], [8925870, 8926160], [8926335, 8926487], [8928776, 8928942], [8930009, 8930189], [8931189, 8931354], [8933939, 8934117], [8936900, 8936999], [8938331, 8938430], [8940529, 8940628], [8943059, 8943257], [8946400, 8946499], [8952524, 8952623], [8953366, 8953465], [8957747, 8957846], [8958824, 8958923], [8965872, 8966043], [8967115, 8967259], [8977609, 8977726]] [[8966040, 8966043], [8967115, 8967223]]
ENST00000489024 [[8872082, 8872112], [8873573, 8873810], [8874784, 8874883], [8876997, 8877129], [8890241, 8890465], [8891595, 8891774], [8910799, 8910962], [8916877, 8917022], [8918768, 8918857], [8919025, 8919269], [8919803, 8919944], [8925870, 8926160], [8926335, 8926487], [8928776, 8928942], [8930009, 8930189], [8931189, 8931354], [8933939, 8934117], [8936900, 8936999], [8938331, 8938430], [8940529, 8940628], [8943059, 8943257], [8946400, 8946499], [8952524, 8952626], [8953366, 8953465], [8957747, 8957846], [8958824, 8958923], [8967115, 8967259], [8977609, 8977742]] [[8872082, 8872112], [8873573, 8873810], [8874784, 8874883], [8876997, 8877129], [8890241, 8890465], [8891595, 8891774], [8910799, 8910962], [8916877, 8917022], [8918768, 8918857], [8919025, 8919269], [8919803, 8919944], [8925870, 8926160], [8926335, 8926487], [8928776, 8928942], [8930009, 8930189], [8931189, 8931354], [8933939, 8934117], [8936900, 8936999], [8938331, 8938430], [8940529, 8940628], [8943059, 8943257], [8946400, 8946499], [8952524, 8952626], [8953366, 8953465], [8957747, 8957846], [8958824, 8958923], [8967115, 8967223]]
ENST00000319688 [[8897323, 8897917], [8910799, 8910962], [8916877, 8917022], [8918768, 8918857], [8919025, 8919269], [8919803, 8919944], [8925870, 8926160], [8926335, 8926487], [8928776, 8928942], [8930009, 8930189], [8931189, 8931354], [8933939, 8934117], [8936900, 8936999], [8938331, 8938430], [8940529, 8940628], [8943059, 8943257], [8946400, 8946499], [8952524, 8952626], [8953366, 8953465], [8957747, 8957846], [8958824, 8958923], [8967115, 8967259], [8977609, 8977730]] [[8897835, 8897917], [8910799, 8910962], [8916877, 8917022], [8918768, 8918857], [8919025, 8919269], [8919803, 8919944], [8925870, 8926160], [8926335, 8926487], [8928776, 8928942], [8930009, 8930189], [8931189, 8931354], [8933939, 8934117], [8936900, 8936999], [8938331, 8938430], [8940529, 8940628], [8943059, 8943257], [8946400, 8946499], [8952524, 8952626], [8953366, 8953465], [8957747, 8957846], [8958824, 8958923], [8967115, 8967223]]
ENST00000436566 [[8865407, 8865729], [8867016, 8867073], [8867318, 8867347]] None
ENST00000471685 [[8873738, 8873810], [8874784, 8874883], [8876997, 8877419]] None
ENST00000459813 [[8886586, 8888130], [8889500, 8889551], [8890241, 8890465], [8891595, 8891774], [8910799, 8910837]] [[8889536, 8889551], [8890241, 8890465], [8891595, 8891774], [8910799, 8910837]]
ENST00000474782 [[8930113, 8930189], [8931189, 8931354], [8933939, 8934446]] None
ENST00000471275 [[8940336, 8940628], [8943059, 8943257], [8946400, 8946508]] None
ENST00000496725 [[8966831, 8967259], [8977609, 8977743]] None
NM_020738 [[8868986, 8872112], [8873573, 8873810], [8874784, 8874883], [8876997, 8877129], [8887274, 8887331], [8888016, 8888130], [8890241, 8890465], [8891595, 8891774], [8910799, 8910962], [8916877, 8917022], [8918768, 8918857], [8919025, 8919269], [8919803, 8919944], [8925870, 8926160], [8926335, 8926487], [8928776, 8928942], [8930009, 8930189], [8931189, 8931354], [8933939, 8934117], [8936900, 8936999], [8938331, 8938430], [8940529, 8940628], [8943059, 8943257], [8946400, 8946499], [8952524, 8952623], [8953366, 8953465], [8957747, 8957846], [8958824, 8958923], [8967115, 8967259], [8977609, 8977755]] [[8870849, 8872112], [8873573, 8873810], [8874784, 8874883], [8876997, 8877129], [8887274, 8887331], [8888016, 8888130], [8890241, 8890465], [8891595, 8891774], [8910799, 8910962], [8916877, 8917022], [8918768, 8918857], [8919025, 8919269], [8919803, 8919944], [8925870, 8926160], [8926335, 8926487], [8928776, 8928942], [8930009, 8930189], [8931189, 8931354], [8933939, 8934117], [8936900, 8936999], [8938331, 8938430], [8940529, 8940628], [8943059, 8943257], [8946400, 8946499], [8952524, 8952623], [8953366, 8953465], [8957747, 8957846], [8958824, 8958923], [8967115, 8967223]]
Promoter
Chrom Start End Description
chr2 8890438 8890476 CAGE_peak_10_at_KIDINS220_5end
chr2 8977694 8977703 CAGE_peak_4_at_KIDINS220_5end
chr2 8977714 8977765 CAGE_peak_1_at_KIDINS220_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I009334 9334788 9337933 1.67 [{'connected_gene': 'ASAP2', 'score': 19.46}, {'connected_gene': 'ADAM17', 'score': 11.49}, {'connected_gene': 'KIDINS220', 'score': 1.24}, {'connected_gene': 'GC02M009313', 'score': 0.34}, {'connected_gene': 'CPSF3', 'score': 0.17}]
chr2 GH02I008360 8360303 8360457 0.22 [{'connected_gene': 'KIDINS220', 'score': 1.27}, {'connected_gene': 'LINC00299', 'score': 0.34}, {'connected_gene': 'LINC00298', 'score': 0.18}]
chr2 GH02I008417 8417210 8417615 0.59 [{'connected_gene': 'KIDINS220', 'score': 1.98}, {'connected_gene': 'LINC00299', 'score': 0.29}, {'connected_gene': 'ENSG00000231435', 'score': 0.1}]
chr2 GH02I008412 8411062 8411066 0.22 [{'connected_gene': 'KIDINS220', 'score': 1.55}, {'connected_gene': 'LINC00299', 'score': 0.31}, {'connected_gene': 'ENSG00000231435', 'score': 0.1}]
chr2 GH02I008836 8836200 8838240 1.93 [{'connected_gene': 'KIDINS220', 'score': 557.54}, {'connected_gene': 'MBOAT2', 'score': 10.85}, {'connected_gene': 'LOC100216337', 'score': 0.18}]
chr2 GH02I008821 8821351 8822600 0.97 [{'connected_gene': 'KIDINS220', 'score': 0.37}, {'connected_gene': 'LOC100216337', 'score': 0.21}]
chr2 GH02I008803 8803656 8805273 1.15 [{'connected_gene': 'KIDINS220', 'score': 0.29}, {'connected_gene': 'LOC100216337', 'score': 0.25}]
chr2 GH02I008805 8805411 8805560 0.59 [{'connected_gene': 'KIDINS220', 'score': 0.29}, {'connected_gene': 'LOC100216337', 'score': 0.25}]
chr2 GH02I009317 9317997 9319941 0.99 [{'connected_gene': 'CPSF3', 'score': 21.7}, {'connected_gene': 'ASAP2', 'score': 20.82}, {'connected_gene': 'KIDINS220', 'score': 11.1}, {'connected_gene': 'ENSG00000239300', 'score': 10.77}, {'connected_gene': 'ITGB1BP1', 'score': 10.27}, {'connected_gene': 'GC02M009313', 'score': 0.77}]
chr2 GH02I008533 8533924 8541060 1.65 [{'connected_gene': 'ID2', 'score': 15.51}, {'connected_gene': 'ID2-AS1', 'score': 11.87}, {'connected_gene': 'KIDINS220', 'score': 1.34}, {'connected_gene': 'ENSG00000231435', 'score': 0.28}, {'connected_gene': 'LINC00299', 'score': 0.1}]
chr2 GH02I008455 8455459 8459524 1.3 [{'connected_gene': 'ID2', 'score': 12.59}, {'connected_gene': 'ID2-AS1', 'score': 11.11}, {'connected_gene': 'KIDINS220', 'score': 1.78}, {'connected_gene': 'LINC00299', 'score': 0.19}, {'connected_gene': 'ENSG00000231435', 'score': 0.13}]
chr2 GH02I008795 8795071 8795180 0.38 [{'connected_gene': 'MBOAT2', 'score': 9.78}, {'connected_gene': 'LOC100216337', 'score': 0.28}, {'connected_gene': 'KIDINS220', 'score': 0.26}]
chr2 GH02I008737 8737116 8738407 0.59 [{'connected_gene': 'LOC100216337', 'score': 0.34}, {'connected_gene': 'ID2-AS1', 'score': 0.22}, {'connected_gene': 'KIDINS220', 'score': 0.15}]
chr2 GH02I008597 8597063 8600999 1.42 [{'connected_gene': 'GC02M008597', 'score': 550.77}, {'connected_gene': 'CPSF3', 'score': 14.74}, {'connected_gene': 'KIDINS220', 'score': 11.12}, {'connected_gene': 'ENSG00000239300', 'score': 9.98}, {'connected_gene': 'SNRPEP5', 'score': 0.77}, {'connected_gene': 'LOC105373411', 'score': 0.34}]

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