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
ENST00000496418 [[132276981, 132277929], [132278676, 132278786], [132279944, 132280061], [132294615, 132294770], [132295787, 132295859], [132297639, 132298402], [132322072, 132322171], [132323941, 132324049], [132337477, 132337616], [132338311, 132338389], [132345534, 132345661], [132347183, 132347290], [132349280, 132349402], [132350184, 132350323], [132358335, 132358500], [132360815, 132360977], [132361520, 132361646], [132363640, 132363740], [132378446, 132378493]] None
ENST00000355458 [[132276981, 132277929], [132278676, 132278786], [132279944, 132280061], [132280153, 132280154], [132298335, 132298402], [132322072, 132322171], [132323941, 132324049], [132337477, 132337616], [132338311, 132338389], [132345534, 132345661], [132347183, 132347290], [132349280, 132349402], [132350184, 132350323], [132358335, 132358500], [132360815, 132360977], [132361520, 132361646], [132363640, 132363740], [132378446, 132378975]] [[132277814, 132277929], [132278676, 132278786], [132279944, 132280061], [132280153, 132280154], [132298335, 132298402], [132322072, 132322171], [132323941, 132324049], [132337477, 132337616], [132338311, 132338389], [132345534, 132345661], [132347183, 132347290], [132349280, 132349402], [132350184, 132350323], [132358335, 132358500], [132360815, 132360977], [132361520, 132361646], [132363640, 132363740], [132378446, 132378595]]
ENST00000264990 [[132276987, 132277929], [132278676, 132278786], [132279944, 132280061], [132294615, 132294770], [132295787, 132295859], [132297639, 132297725], [132298335, 132298402], [132322072, 132322171], [132323941, 132324049], [132337477, 132337616], [132338311, 132338389], [132345534, 132345661], [132347183, 132347290], [132349280, 132349402], [132350184, 132350323], [132358335, 132358500], [132360815, 132360977], [132361520, 132361646], [132363640, 132363740], [132378446, 132379567]] [[132277814, 132277929], [132278676, 132278786], [132279944, 132280061], [132294615, 132294770], [132295787, 132295859], [132297639, 132297725], [132298335, 132298402], [132322072, 132322171], [132323941, 132324049], [132337477, 132337616], [132338311, 132338389], [132345534, 132345661], [132347183, 132347290], [132349280, 132349402], [132350184, 132350323], [132358335, 132358500], [132360815, 132360977], [132361520, 132361646], [132363640, 132363740], [132378446, 132378595]]
ENST00000485198 [[132277315, 132277929], [132278676, 132278786], [132279944, 132280061], [132294615, 132294770], [132295787, 132295859], [132297639, 132297725], [132298335, 132298402], [132322072, 132322171], [132323941, 132324049], [132345534, 132345661], [132347183, 132347290], [132349280, 132349402], [132350184, 132350323], [132358335, 132358500], [132360815, 132360977], [132361520, 132361646], [132363640, 132363740], [132378446, 132378910]] [[132323944, 132324049], [132345534, 132345661], [132347183, 132347290], [132349280, 132349402], [132350184, 132350323], [132358335, 132358500], [132360815, 132360977], [132361520, 132361646], [132363640, 132363740], [132378446, 132378595]]
ENST00000545291 [[132277315, 132277929], [132278676, 132278786], [132279944, 132280061], [132294615, 132294770], [132295787, 132295859], [132297639, 132297725], [132298335, 132298402], [132322072, 132322171], [132323941, 132324049], [132345534, 132345661], [132347183, 132347290], [132349280, 132349402], [132350184, 132350323], [132358335, 132358500], [132360815, 132360977], [132361520, 132361646], [132363640, 132363740], [132378446, 132378910]] [[132277814, 132277929], [132278676, 132278786], [132279944, 132280061], [132294615, 132294770], [132295787, 132295859], [132297639, 132297725], [132298335, 132298402], [132322072, 132322171], [132323941, 132324038]]
ENST00000469042 [[132277667, 132277929], [132278676, 132278786], [132279944, 132280061], [132295787, 132295859], [132297639, 132298402], [132322072, 132322171], [132323941, 132324049], [132337477, 132337616], [132338311, 132338389], [132345534, 132345661], [132347183, 132347290], [132349280, 132349402], [132350184, 132350323], [132358335, 132358500], [132360815, 132360977], [132361520, 132361646], [132363640, 132363740], [132378446, 132378926]] None
ENST00000510100 [[132295787, 132295859], [132297639, 132297900], [132298335, 132298402], [132322072, 132322171], [132323941, 132324049], [132337477, 132337565]] [[132297794, 132297900], [132298335, 132298402], [132322072, 132322171], [132323941, 132324049], [132337477, 132337565]]
ENST00000477604 [[132297392, 132297900], [132298335, 132298402], [132322072, 132322171], [132323941, 132324007]] None
ENST00000507705 [[132297676, 132297725], [132298335, 132298402], [132322072, 132322171], [132323941, 132324049], [132337477, 132337616], [132338311, 132338389], [132339222, 132339250]] None
ENST00000487024 [[132298022, 132298402], [132322072, 132322171], [132323941, 132324049], [132337477, 132337616], [132338311, 132338389], [132345534, 132345918]] None
ENST00000481970 [[132337093, 132337616], [132338311, 132338389], [132345534, 132345661], [132347183, 132347290], [132349280, 132349402], [132350184, 132350323], [132358335, 132358500], [132360815, 132360977], [132361520, 132361646], [132363640, 132363740], [132378446, 132378688]] [[132337460, 132337616], [132338311, 132338389], [132345534, 132345661], [132347183, 132347290], [132349280, 132349402], [132350184, 132350323], [132358335, 132358500], [132360815, 132360977], [132361520, 132361646], [132363640, 132363740], [132378446, 132378595]]
ENST00000489991 [[132349288, 132349402], [132378446, 132378906]] None
NR_132426 [[132276981, 132277929], [132278676, 132278786], [132279944, 132280061], [132294615, 132294770], [132295787, 132295859], [132297639, 132298402], [132322072, 132322171], [132323941, 132324049], [132337477, 132337616], [132338311, 132338389], [132345534, 132345661], [132347183, 132347290], [132349280, 132349402], [132350184, 132350323], [132358335, 132358500], [132360815, 132360977], [132361520, 132361646], [132363640, 132363740], [132378446, 132378975]] None
NR_132427 [[132276981, 132277929], [132278676, 132278786], [132279944, 132280061], [132295787, 132295859], [132297639, 132298402], [132322072, 132322171], [132323941, 132324049], [132337477, 132337616], [132338311, 132338389], [132345534, 132345661], [132347183, 132347290], [132349280, 132349402], [132350184, 132350323], [132358335, 132358500], [132360815, 132360977], [132361520, 132361646], [132363640, 132363740], [132378446, 132378975]] None
NM_032169 [[132276981, 132277929], [132278676, 132278786], [132279944, 132280061], [132294615, 132294770], [132295787, 132295859], [132297639, 132297725], [132298335, 132298402], [132322072, 132322171], [132323941, 132324049], [132337477, 132337616], [132338311, 132338389], [132345534, 132345661], [132347183, 132347290], [132349280, 132349402], [132350184, 132350323], [132358335, 132358500], [132360815, 132360977], [132361520, 132361646], [132363640, 132363740], [132378446, 132378975]] [[132277814, 132277929], [132278676, 132278786], [132279944, 132280061], [132294615, 132294770], [132295787, 132295859], [132297639, 132297725], [132298335, 132298402], [132322072, 132322171], [132323941, 132324049], [132337477, 132337616], [132338311, 132338389], [132345534, 132345661], [132347183, 132347290], [132349280, 132349402], [132350184, 132350323], [132358335, 132358500], [132360815, 132360977], [132361520, 132361646], [132363640, 132363740], [132378446, 132378595]]
NR_132428 [[132276981, 132277929], [132278676, 132278786], [132279944, 132280061], [132294615, 132294770], [132295787, 132295859], [132297639, 132297725], [132298335, 132298402], [132322072, 132322171], [132323941, 132324049], [132345534, 132345661], [132347183, 132347290], [132349280, 132349402], [132350184, 132350323], [132358335, 132358500], [132360815, 132360977], [132361520, 132361646], [132363640, 132363740], [132378446, 132378975]] None
Promoter
Chrom Start End Description
chr3 132345911 132345932 CAGE_peak_12_at_ACAD11_5end
chr3 132345940 132345968 CAGE_peak_9_at_ACAD11_5end
chr3 132378636 132378666 CAGE_peak_1_at_ACAD11_5end
chr3 132378672 132378711 CAGE_peak_5_at_ACAD11_5end
chr3 132378897 132378913 CAGE_peak_3_at_ACAD11_5end
chr3 132378919 132378959 CAGE_peak_2_at_ACAD11_5end
chr3 132379099 132379143 CAGE_peak_4_at_ACAD11_5end
chr3 132379786 132379792 CAGE_peak_8_at_ACAD11_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I132662 132662277 132662426 0.64 [{'connected_gene': 'ACAD11', 'score': 550.77}, {'connected_gene': 'UBA5', 'score': 0.44}, {'connected_gene': 'NPHP3-AS1', 'score': 0.22}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.21}]
chr3 GH03I132657 132657665 132662187 2.04 [{'connected_gene': 'ACAD11', 'score': 567.63}, {'connected_gene': 'UBA5', 'score': 550.44}, {'connected_gene': 'NPHP3', 'score': 29.95}, {'connected_gene': 'DNAJC13', 'score': 9.81}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.21}]
chr3 GH03I132380 132380853 132383807 0.62 [{'connected_gene': 'ACAD11', 'score': 4.87}, {'connected_gene': 'ACPP', 'score': 4.39}, {'connected_gene': 'LOC100130550', 'score': 0.77}, {'connected_gene': 'GC03P132328', 'score': 0.23}]
chr3 GH03I132562 132562953 132564529 0.51 [{'connected_gene': 'ACAD11', 'score': 17.49}, {'connected_gene': 'ACKR4', 'score': 11.49}, {'connected_gene': 'UBA5', 'score': 10.44}, {'connected_gene': 'DNAJC13', 'score': 0.11}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.1}]
chr3 GH03I132553 132553746 132554363 0.31 [{'connected_gene': 'ACAD11', 'score': 17.94}, {'connected_gene': 'ACKR4', 'score': 11.5}, {'connected_gene': 'UBA5', 'score': 10.61}, {'connected_gene': 'DNAJC13', 'score': 0.12}]
chr3 GH03I132636 132636879 132638380 0.31 [{'connected_gene': 'ACAD11', 'score': 10.72}, {'connected_gene': 'NPHP3', 'score': 9.39}, {'connected_gene': 'HSPA8P19', 'score': 0.44}, {'connected_gene': 'ACKR4', 'score': 0.26}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.18}]
chr3 GH03I132535 132535585 132536844 0.84 [{'connected_gene': 'UBA5', 'score': 11.1}, {'connected_gene': 'ACAD11', 'score': 10.8}, {'connected_gene': 'ACKR4', 'score': 10.6}, {'connected_gene': 'DNAJC13', 'score': 6.57}]
chr3 GH03I132629 132629308 132630952 0.66 [{'connected_gene': 'UBA5', 'score': 11.17}, {'connected_gene': 'ACAD11', 'score': 11.13}, {'connected_gene': 'HSPA8P19', 'score': 0.37}, {'connected_gene': 'ACKR4', 'score': 0.29}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.16}]
chr3 GH03I132605 132605063 132607005 0.2 [{'connected_gene': 'UBA5', 'score': 10.36}, {'connected_gene': 'ACKR4', 'score': 0.44}, {'connected_gene': 'HSPA8P19', 'score': 0.28}, {'connected_gene': 'ACAD11', 'score': 0.23}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.13}]
chr3 GH03I132654 132654098 132656272 1.27 [{'connected_gene': 'UBA5', 'score': 550.77}, {'connected_gene': 'NPHP3', 'score': 9.44}, {'connected_gene': 'ACAD11', 'score': 6.44}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.2}]
chr3 GH03I132653 132653037 132653186 0.31 [{'connected_gene': 'UBA5', 'score': 550.77}, {'connected_gene': 'HSPA8P19', 'score': 0.44}, {'connected_gene': 'ACAD11', 'score': 0.44}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.2}]
chr3 GH03I132376 132376801 132377200 0.49 [{'connected_gene': 'ACPP', 'score': 4.41}, {'connected_gene': 'ACAD11', 'score': 4.26}, {'connected_gene': 'LOC100130550', 'score': 0.44}, {'connected_gene': 'GC03P132328', 'score': 0.25}]
chr3 GH03I132565 132565900 132566997 0.2 [{'connected_gene': 'ACKR4', 'score': 0.29}, {'connected_gene': 'ACAD11', 'score': 0.16}, {'connected_gene': 'DNAJC13', 'score': 0.11}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.1}]
chr3 GH03I132569 132569257 132569406 0.58 [{'connected_gene': 'ACKR4', 'score': 11.21}, {'connected_gene': 'ACAD11', 'score': 0.16}, {'connected_gene': 'DNAJC13', 'score': 0.1}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.1}]
chr3 GH03I132577 132577617 132577766 0.38 [{'connected_gene': 'ACKR4', 'score': 0.37}, {'connected_gene': 'ACAD11', 'score': 0.18}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.11}, {'connected_gene': 'DNAJC13', 'score': 0.1}]
chr3 GH03I132573 132573544 132574420 0.2 [{'connected_gene': 'ACKR4', 'score': 11.96}, {'connected_gene': 'ACAD11', 'score': 0.17}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.11}, {'connected_gene': 'DNAJC13', 'score': 0.1}]
chr3 GH03I132554 132554577 132554706 0.2 [{'connected_gene': 'ACKR4', 'score': 11.5}, {'connected_gene': 'UBA5', 'score': 10.62}, {'connected_gene': 'ACAD11', 'score': 10.6}, {'connected_gene': 'DNAJC13', 'score': 0.12}]
chr3 GH03I132555 132555651 132557642 0.49 [{'connected_gene': 'ACKR4', 'score': 11.71}, {'connected_gene': 'UBA5', 'score': 10.62}, {'connected_gene': 'ACAD11', 'score': 10.61}, {'connected_gene': 'DNAJC13', 'score': 5.84}]
chr3 GH03I132596 132596960 132597920 0.81 [{'connected_gene': 'ACKR4', 'score': 550.77}, {'connected_gene': 'HSPA8P19', 'score': 0.25}, {'connected_gene': 'ACAD11', 'score': 0.21}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.13}]
chr3 GH03I132667 132667457 132669164 0.67 [{'connected_gene': 'NPHP3', 'score': 4.36}, {'connected_gene': 'ACAD11', 'score': 0.44}, {'connected_gene': 'UBA5', 'score': 0.39}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.23}, {'connected_gene': 'NPHP3-AS1', 'score': 0.23}]
chr3 GH03I132593 132593181 132595472 0.69 [{'connected_gene': 'NPHP3', 'score': 14.22}, {'connected_gene': 'ACAD11', 'score': 6.52}, {'connected_gene': 'ACKR4', 'score': 0.77}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.13}, {'connected_gene': 'DNAJC13', 'score': 0.1}]
chr3 GH03I132703 132703817 132703966 0.2 [{'connected_gene': 'TFP1', 'score': 10.38}, {'connected_gene': 'TOPBP1', 'score': 10.38}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.37}, {'connected_gene': 'NPHP3-AS1', 'score': 0.37}, {'connected_gene': 'NPHP3', 'score': 0.37}, {'connected_gene': 'ACAD11', 'score': 0.26}]

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