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
ENST00000371237 [[57394882, 57395231], [57397482, 57397551], [57399007, 57399161], [57406521, 57406685], [57409368, 57409497], [57411493, 57411734], [57415227, 57415425], [57417720, 57417853], [57420358, 57420500], [57422441, 57422583], [57425692, 57425849], [57431529, 57431688]] [[57395076, 57395231], [57397482, 57397551], [57399007, 57399161], [57406521, 57406685], [57409368, 57409497], [57411493, 57411734], [57415227, 57415425], [57417720, 57417853], [57420358, 57420500], [57422441, 57422583], [57425692, 57425849], [57431529, 57431621]]
ENST00000543257 [[57394884, 57395231], [57397482, 57397551], [57399007, 57399161], [57406521, 57406685], [57409368, 57409497], [57411493, 57411734], [57415227, 57415425], [57417720, 57417853], [57420358, 57420500], [57422441, 57422583], [57425692, 57425849], [57429444, 57429666], [57431529, 57431810]] [[57395076, 57395231], [57397482, 57397551], [57399007, 57399161], [57406521, 57406685], [57409368, 57409497], [57411493, 57411734], [57415227, 57415425], [57417720, 57417853], [57420358, 57420500], [57422441, 57422583], [57425692, 57425785]]
ENST00000535057 [[57395025, 57395231], [57397482, 57397551], [57399007, 57399161], [57406521, 57406685], [57409368, 57409497], [57411493, 57411734], [57415227, 57415425], [57417720, 57417853], [57420358, 57420500], [57422441, 57422583], [57425201, 57425330], [57425692, 57425849], [57431529, 57431730]] [[57395076, 57395231], [57397482, 57397551], [57399007, 57399161], [57406521, 57406685], [57409368, 57409497], [57411493, 57411734], [57415227, 57415425], [57417720, 57417853], [57420358, 57420500], [57422441, 57422583], [57425201, 57425264]]
ENST00000465658 [[57397266, 57397551], [57399007, 57399054]] None
ENST00000468990 [[57422527, 57422583], [57425201, 57425330], [57425692, 57425849], [57431529, 57431730]] None
ENST00000494324 [[57425735, 57425849], [57429444, 57429666], [57431529, 57431813]] None
NM_001278543 [[57394882, 57395231], [57397482, 57397551], [57399007, 57399161], [57406521, 57406685], [57409368, 57409497], [57411493, 57411734], [57415227, 57415425], [57417720, 57417853], [57420358, 57420500], [57422441, 57422583], [57425692, 57425849], [57429444, 57429666], [57431529, 57431813]] [[57395076, 57395231], [57397482, 57397551], [57399007, 57399161], [57406521, 57406685], [57409368, 57409497], [57411493, 57411734], [57415227, 57415425], [57417720, 57417853], [57420358, 57420500], [57422441, 57422583], [57425692, 57425785]]
NM_001278544 [[57394882, 57395231], [57397482, 57397551], [57399007, 57399161], [57406521, 57406685], [57409368, 57409497], [57411493, 57411734], [57415227, 57415425], [57417720, 57417853], [57420358, 57420500], [57422441, 57422583], [57425201, 57425330], [57425692, 57425849], [57431529, 57431813]] [[57395076, 57395231], [57397482, 57397551], [57399007, 57399161], [57406521, 57406685], [57409368, 57409497], [57411493, 57411734], [57415227, 57415425], [57417720, 57417853], [57420358, 57420500], [57422441, 57422583], [57425201, 57425264]]
NM_000066 [[57394882, 57395231], [57397482, 57397551], [57399007, 57399161], [57406521, 57406685], [57409368, 57409497], [57411493, 57411734], [57415227, 57415425], [57417720, 57417853], [57420358, 57420500], [57422441, 57422583], [57425692, 57425849], [57431529, 57431813]] [[57395076, 57395231], [57397482, 57397551], [57399007, 57399161], [57406521, 57406685], [57409368, 57409497], [57411493, 57411734], [57415227, 57415425], [57417720, 57417853], [57420358, 57420500], [57422441, 57422583], [57425692, 57425849], [57431529, 57431621]]
Promoter
Chrom Start End Description
chr1 57431679 57431696 CAGE_peak_1_at_C8B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I056574 56574800 56582386 2.5 [{'connected_gene': 'PLPP3', 'score': 554.69}, {'connected_gene': 'C8A', 'score': 8.33}, {'connected_gene': 'FYB2', 'score': 7.87}, {'connected_gene': 'C8B', 'score': 6.59}, {'connected_gene': 'PRKAA2', 'score': 4.96}, {'connected_gene': 'RPL23AP85', 'score': 0.44}, {'connected_gene': 'GC01P056539', 'score': 0.26}]
chr1 GH01I056907 56907863 56912072 1.17 [{'connected_gene': 'C8B', 'score': 21.73}, {'connected_gene': 'C8A', 'score': 19.25}, {'connected_gene': 'FYB2', 'score': 18.15}, {'connected_gene': 'GC01P056889', 'score': 0.34}, {'connected_gene': 'LOC105378745', 'score': 0.23}]
chr1 GH01I057033 57033309 57034842 0.66 [{'connected_gene': 'C8B', 'score': 8.68}, {'connected_gene': 'LOC105378748', 'score': 0.37}, {'connected_gene': 'LOC105378747', 'score': 0.12}]
chr1 GH01I056966 56966005 56966064 1.13 [{'connected_gene': 'C8B', 'score': 550.77}, {'connected_gene': 'LOC105378745', 'score': 0.77}]
chr1 GH01I056919 56919808 56919957 0.87 [{'connected_gene': 'C8B', 'score': 11.12}, {'connected_gene': 'GC01P056889', 'score': 0.29}, {'connected_gene': 'LOC105378745', 'score': 0.26}]
chr1 GH01I057279 57279420 57283946 1.18 [{'connected_gene': 'C8A', 'score': 4.02}, {'connected_gene': 'C8B', 'score': 3.63}, {'connected_gene': 'FYB2', 'score': 2.39}, {'connected_gene': 'GC01P057267', 'score': 0.39}, {'connected_gene': 'GC01P057293', 'score': 0.39}]
chr1 GH01I057006 57006755 57006879 0.22 [{'connected_gene': 'FYB2', 'score': 5.49}, {'connected_gene': 'C8A', 'score': 5.05}, {'connected_gene': 'C8B', 'score': 3.8}, {'connected_gene': 'GC01P057000', 'score': 0.44}, {'connected_gene': 'LOC105378748', 'score': 0.39}]