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
ENST00000570371 [[52976747, 52977594], [52977754, 52978284], [52981068, 52981153], [52982849, 52982928], [52990026, 52990176], [52991108, 52991234], [52991999, 52992104], [52993106, 52993223], [53007433, 53007567], [53014009, 53014070], [53014469, 53014677]] [[52978226, 52978284], [52981068, 52981153], [52982849, 52982928], [52990026, 52990176], [52991108, 52991234], [52991999, 52992104], [52993106, 52993223], [53007433, 53007567], [53014009, 53014070], [53014469, 53014595]]
ENST00000574744 [[52977162, 52977605], [52977754, 52977870]] None
ENST00000575882 [[52977873, 52978284], [52981068, 52981153], [52982849, 52982928], [52990026, 52990176], [52991108, 52991234], [52991999, 52992104], [52993106, 52993223], [53007433, 53007567], [53014009, 53014070], [53014469, 53014587], [53016284, 53016381], [53024621, 53024673], [53026878, 53026984], [53027405, 53027487], [53037926, 53037988], [53038595, 53039310]] [[52978226, 52978284], [52981068, 52981153], [52982849, 52982928], [52990026, 52990176], [52991108, 52991234], [52991999, 52992104], [52993106, 52993223], [53007433, 53007567], [53014009, 53014070], [53014469, 53014587], [53016284, 53016381], [53024621, 53024673], [53026878, 53026984], [53027405, 53027487]]
ENST00000570965 [[52978082, 52978284], [52981040, 52981153], [52982849, 52982928], [52990026, 52990176], [52991108, 52991234], [52991999, 52992104], [52993106, 52993223], [53007433, 53007567]] [[52978226, 52978284], [52981040, 52981099]]
ENST00000445275 [[52978112, 52978284], [52981068, 52981153], [52982849, 52982928], [52990026, 52990176], [52991108, 52991234], [52991999, 52992104], [52993106, 52993223], [53007433, 53007567], [53014009, 53014070], [53014469, 53014587], [53016284, 53016381], [53024621, 53024673], [53026911, 53026984], [53027405, 53027487], [53037926, 53037988], [53038595, 53039310]] [[52978226, 52978284], [52981068, 52981153], [52982849, 52982928], [52990026, 52990176], [52991108, 52991234], [52991999, 52992104], [52993106, 52993223], [53007433, 53007567], [53014009, 53014070], [53014469, 53014587], [53016284, 53016381], [53024621, 53024673], [53026911, 53026984], [53027405, 53027487]]
ENST00000348161 [[52978166, 52978284], [52982849, 52982928], [52990026, 52990176], [52991108, 52991234], [52991999, 52992104], [52993106, 52993223], [53007433, 53007567], [53014009, 53014070], [53014469, 53014587], [53016284, 53016381], [53024621, 53024673], [53026878, 53026984], [53027405, 53027487], [53037926, 53037988], [53038595, 53039083]] [[52990035, 52990176], [52991108, 52991234], [52991999, 52992104], [52993106, 52993223], [53007433, 53007567], [53014009, 53014070], [53014469, 53014587], [53016284, 53016381], [53024621, 53024673], [53026878, 53026984], [53027405, 53027487]]
ENST00000572405 [[52978194, 52978284], [52981073, 52981153], [52982849, 52982928], [52990026, 52990176], [52991108, 52991234], [52991999, 52992104], [52993106, 52994813]] [[52981115, 52981153], [52982849, 52982928], [52990026, 52990176], [52991108, 52991234], [52991999, 52992104], [52993106, 52993286]]
ENST00000576932 [[52978194, 52978284], [52990026, 52990176], [52991108, 52991234], [52991999, 52992104], [52993106, 52993223], [53007433, 53007567], [53014009, 53014070], [53014469, 53014587], [53016284, 53016381], [53019649, 53019852], [53024621, 53024672]] [[52990035, 52990176], [52991108, 52991234], [52991999, 52992104], [52993106, 52993223], [53007433, 53007567], [53014009, 53014070], [53014469, 53014587], [53016284, 53016381], [53019649, 53019731]]
ENST00000572158 [[52978196, 52978284], [52981068, 52981153], [52982849, 52982928], [52990047, 52990176], [52991108, 52991234], [52991999, 52992104], [52993106, 52993223], [53007433, 53007567], [53014009, 53014070], [53014469, 53014587], [53016284, 53016381], [53024621, 53024673], [53026878, 53026984], [53027405, 53027487], [53037926, 53037988], [53038595, 53038675]] [[52978226, 52978284], [52981068, 52981153], [52982849, 52982928], [52990047, 52990176], [52991108, 52991234], [52991999, 52992104], [52993106, 52993223], [53007433, 53007567], [53014009, 53014070], [53014469, 53014587], [53016284, 53016381], [53024621, 53024673], [53026878, 53026984], [53027405, 53027487]]
ENST00000540336 [[52978211, 52978284], [52981068, 52981153], [52990026, 52990176], [52991108, 52991234], [52993106, 52993223], [53007433, 53007567], [53014009, 53014070], [53014469, 53014587], [53016284, 53016381], [53024621, 53024673], [53026878, 53026984], [53027405, 53027487], [53037926, 53037988], [53038595, 53038858]] [[52990035, 52990176], [52991108, 52991234], [52993106, 52993223], [53007433, 53007567], [53014009, 53014070], [53014469, 53014587], [53016284, 53016381], [53024621, 53024673], [53026878, 53026984], [53027405, 53027487]]
ENST00000572298 [[52978213, 52978284], [52981073, 52981153], [52982849, 52982928], [52984139, 52984147], [52990026, 52990176], [52991108, 52991234], [52991999, 52992052]] [[52990035, 52990176], [52991108, 52991234], [52991999, 52992052]]
ENST00000536554 [[52978213, 52978284], [52990026, 52990176], [52991108, 52991234], [52991999, 52992104], [52993106, 52993223], [53007433, 53007567], [53014009, 53014070], [53014469, 53014587], [53016284, 53016381], [53024621, 53024673], [53026878, 53026984], [53027405, 53027487], [53037926, 53037988], [53038595, 53038836]] [[52990035, 52990176], [52991108, 52991234], [52991999, 52992104], [52993106, 52993223], [53007433, 53007567], [53014009, 53014070], [53014469, 53014587], [53016284, 53016381], [53024621, 53024673], [53026878, 53026984], [53027405, 53027487]]
ENST00000571319 [[52978213, 52978284], [52981068, 52981153], [52990026, 52990176], [52991108, 52991234], [52993106, 52993223], [53007433, 53007567], [53014009, 53014070], [53014469, 53014587], [53016284, 53016381], [53024621, 53024673], [53026878, 53026984], [53027405, 53027487], [53037926, 53037988], [53038595, 53038858]] [[52978226, 52978284], [52981068, 52981153], [52990026, 52990075]]
ENST00000575333 [[52978217, 52978284], [52981068, 52981153], [52982849, 52982928], [52990026, 52990176], [52991108, 52991234], [52991999, 52992104], [52993106, 52993223], [53007433, 53007567], [53014009, 53014070], [53014469, 53015394]] [[52978226, 52978284], [52981068, 52981153], [52982849, 52982928], [52990026, 52990176], [52991108, 52991234], [52991999, 52992104], [52993106, 52993223], [53007433, 53007567], [53014009, 53014070], [53014469, 53014595]]
ENST00000572360 [[52978223, 52978284], [52981068, 52981153], [52982849, 52982928], [52984139, 52984147], [52990026, 52990176], [52991108, 52991234], [52991999, 52992066]] [[52978226, 52978284], [52981068, 52981153], [52982849, 52982928], [52984139, 52984147], [52990026, 52990075]]
ENST00000570499 [[52978230, 52978284], [52981068, 52981153], [52982849, 52982928], [52990026, 52990176], [52991108, 52991234], [52993106, 52993208]] [[52978230, 52978284], [52981068, 52981153], [52982849, 52982928], [52990026, 52990176], [52991108, 52991234], [52993106, 52993208]]
ENST00000572576 [[52978237, 52978284], [52981068, 52981153], [52982849, 52982928], [52991108, 52991234], [52991999, 52992104], [52993106, 52993223], [53007433, 53007567], [53014009, 53014070]] [[52978237, 52978284], [52981068, 52981153], [52982849, 52982928], [52991108, 52991234], [52991999, 52992104], [52993106, 52993223], [53007433, 53007567], [53014009, 53014070]]
ENST00000573607 [[52978463, 52978606], [52981068, 52981153], [52982849, 52982928], [52990026, 52990176], [52991108, 52991207]] [[52981115, 52981153], [52982849, 52982928], [52990026, 52990176], [52991108, 52991207]]
ENST00000575909 [[52978494, 52978542], [52981068, 52981153], [52982849, 52982928], [52990026, 52990176], [52991108, 52991234], [52991999, 52992104], [52993106, 52993221]] [[52978514, 52978542], [52981068, 52981153], [52982849, 52982928], [52990026, 52990176], [52991108, 52991234], [52991999, 52992104], [52993106, 52993221]]
ENST00000570977 [[52991179, 52991234], [52991999, 52992104], [52993106, 52993223], [53007433, 53007740]] None
ENST00000570623 [[53013773, 53014070], [53014469, 53014845]] None
ENST00000572905 [[53015937, 53016381], [53024621, 53024714]] None
ENST00000574653 [[53016141, 53016381], [53024621, 53024673], [53026878, 53026984], [53027405, 53027487], [53037926, 53037988], [53038595, 53038774]] None
ENST00000574318 [[53016284, 53016381], [53024621, 53024673], [53026878, 53026984], [53027405, 53027487], [53036640, 53036855]] [[53016284, 53016381], [53024621, 53024673], [53026878, 53026984], [53027405, 53027487], [53036640, 53036680]]
NM_001321173 [[52978051, 52978284], [52981068, 52981153], [52982849, 52982928], [52990026, 52990176], [52991108, 52991234], [52991999, 52992104], [52993106, 52993223], [53007433, 53007567], [53014009, 53014070], [53014469, 53015394]] [[52978226, 52978284], [52981068, 52981153], [52982849, 52982928], [52990026, 52990176], [52991108, 52991234], [52991999, 52992104], [52993106, 52993223], [53007433, 53007567], [53014009, 53014070], [53014469, 53014595]]
NM_001321174 [[52978051, 52978284], [52990026, 52990176], [52991108, 52991234], [52991999, 52992104], [52993106, 52993223], [53007433, 53007567], [53014009, 53014070], [53014469, 53014587], [53016284, 53016381], [53024621, 53024673], [53026878, 53026984], [53027405, 53027487], [53037926, 53037988], [53038595, 53039328]] [[52990035, 52990176], [52991108, 52991234], [52991999, 52992104], [52993106, 52993223], [53007433, 53007567], [53014009, 53014070], [53014469, 53014587], [53016284, 53016381], [53024621, 53024673], [53026878, 53026984], [53027405, 53027487]]
NM_001321176 [[52978051, 52978284], [52981073, 52981153], [52982849, 52982928], [52984139, 52984147], [52990026, 52990176], [52991108, 52991234], [52991999, 52992104], [52993106, 52993223], [53007433, 53007567], [53014009, 53014070], [53014469, 53014587], [53016284, 53016381], [53024621, 53024673], [53026878, 53026984], [53027405, 53027487], [53037926, 53037988], [53038595, 53039328]] [[52990035, 52990176], [52991108, 52991234], [52991999, 52992104], [52993106, 52993223], [53007433, 53007567], [53014009, 53014070], [53014469, 53014587], [53016284, 53016381], [53024621, 53024673], [53026878, 53026984], [53027405, 53027487]]
NM_005486 [[52978051, 52978284], [52981068, 52981153], [52982849, 52982928], [52990026, 52990176], [52991108, 52991234], [52991999, 52992104], [52993106, 52993223], [53007433, 53007567], [53014009, 53014070], [53014469, 53014587], [53016284, 53016381], [53024621, 53024673], [53026878, 53026984], [53027405, 53027487], [53037926, 53037988], [53038595, 53039328]] [[52978226, 52978284], [52981068, 52981153], [52982849, 52982928], [52990026, 52990176], [52991108, 52991234], [52991999, 52992104], [52993106, 52993223], [53007433, 53007567], [53014009, 53014070], [53014469, 53014587], [53016284, 53016381], [53024621, 53024673], [53026878, 53026984], [53027405, 53027487]]
NM_001321175 [[52978051, 52978284], [52981068, 52981153], [52982849, 52982928], [52984139, 52984147], [52990026, 52990176], [52991108, 52991234], [52991999, 52992104], [52993106, 52993223], [53007433, 53007567], [53014009, 53014070], [53014469, 53014587], [53016284, 53016381], [53024621, 53024673], [53026878, 53026984], [53027405, 53027487], [53037926, 53037988], [53038595, 53039328]] [[52990035, 52990176], [52991108, 52991234], [52991999, 52992104], [52993106, 52993223], [53007433, 53007567], [53014009, 53014070], [53014469, 53014587], [53016284, 53016381], [53024621, 53024673], [53026878, 53026984], [53027405, 53027487]]
Promoter
Chrom Start End Description
chr17 52978107 52978118 CAGE_peak_3_at_TOM1L1_5end
chr17 52978156 52978171 CAGE_peak_2_at_TOM1L1_5end
chr17 52978185 52978224 CAGE_peak_1_at_TOM1L1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I054906 54906387 54908316 0.57 [{'connected_gene': 'STXBP4', 'score': 17.92}, {'connected_gene': 'COX11', 'score': 8.89}, {'connected_gene': 'TOM1L1', 'score': 0.44}, {'connected_gene': 'GC17P054919', 'score': 0.39}]
chr17 GH17I054891 54891340 54891429 0.67 [{'connected_gene': 'STXBP4', 'score': 4.94}, {'connected_gene': 'TOM1L1', 'score': 0.44}, {'connected_gene': 'RN7SKP14', 'score': 0.13}]
chr17 GH17I054932 54932034 54935970 0.2 [{'connected_gene': 'COX11', 'score': 34.82}, {'connected_gene': 'STXBP4', 'score': 28.23}, {'connected_gene': 'TOM1L1', 'score': 11.32}, {'connected_gene': 'GC17P054919', 'score': 0.39}, {'connected_gene': 'ENSG00000279059', 'score': 0.34}]
chr17 GH17I054947 54947171 54950880 0.73 [{'connected_gene': 'COX11', 'score': 29.48}, {'connected_gene': 'STXBP4', 'score': 16.19}, {'connected_gene': 'ENSG00000279059', 'score': 0.44}, {'connected_gene': 'GC17P054919', 'score': 0.31}, {'connected_gene': 'TOM1L1', 'score': 0.25}]
chr17 GH17I054944 54944100 54946295 0.6 [{'connected_gene': 'COX11', 'score': 29.45}, {'connected_gene': 'STXBP4', 'score': 16.08}, {'connected_gene': 'ENSG00000279059', 'score': 0.39}, {'connected_gene': 'GC17P054919', 'score': 0.31}, {'connected_gene': 'TOM1L1', 'score': 0.25}]
chr17 GH17I054813 54813699 54814747 0.49 [{'connected_gene': 'RN7SKP14', 'score': 0.26}, {'connected_gene': 'TOM1L1', 'score': 0.17}]
chr17 GH17I054898 54898734 54903947 2.24 [{'connected_gene': 'TOM1L1', 'score': 550.77}, {'connected_gene': 'STXBP4', 'score': 15.64}, {'connected_gene': 'COX11', 'score': 10.12}, {'connected_gene': 'GC17P054919', 'score': 0.37}]
chr17 GH17I054860 54860830 54861712 0.97 [{'connected_gene': 'TOM1L1', 'score': 0.28}, {'connected_gene': 'RN7SKP14', 'score': 0.16}]
chr17 GH17I054939 54939984 54940209 0.22 [{'connected_gene': 'TOM1L1', 'score': 2.75}, {'connected_gene': 'ENSG00000279059', 'score': 0.37}, {'connected_gene': 'GC17P054919', 'score': 0.34}]
chr17 GH17I054957 54957630 54957809 0.26 [{'connected_gene': 'ENSG00000279059', 'score': 550.77}, {'connected_gene': 'COX11', 'score': 0.39}, {'connected_gene': 'GC17P054919', 'score': 0.28}, {'connected_gene': 'TOM1L1', 'score': 0.22}]

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