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
ENST00000470982 [[34457411, 34457458], [34483445, 34483478], [34485139, 34485242], [34485434, 34485515], [34487943, 34488535]] None
ENST00000437363 [[34458832, 34459051], [34485139, 34485238], [34485434, 34485515], [34489320, 34489447], [34490009, 34490122], [34490366, 34490486], [34491492, 34491552], [34493191, 34493326], [34497112, 34497197]] [[34459003, 34459051], [34485139, 34485238], [34485434, 34485515], [34489320, 34489447], [34490009, 34490122], [34490366, 34490486], [34491492, 34491552], [34493191, 34493326], [34497112, 34497197]]
ENST00000242317 [[34458832, 34459051], [34483445, 34483478], [34485139, 34485238], [34485434, 34485515], [34489320, 34489447], [34490009, 34490122], [34490366, 34490486], [34491492, 34491552], [34493191, 34493326], [34497112, 34497197], [34500719, 34500837], [34501135, 34501179], [34506624, 34506872], [34512106, 34512196], [34512334, 34512422], [34513109, 34513189], [34514391, 34514540], [34514637, 34514737], [34517282, 34517465], [34520655, 34520982]] [[34459003, 34459051], [34483445, 34483478], [34485139, 34485238], [34485434, 34485515], [34489320, 34489447], [34490009, 34490122], [34490366, 34490486], [34491492, 34491552], [34493191, 34493326], [34497112, 34497197], [34500719, 34500837], [34501135, 34501179], [34506624, 34506872], [34512106, 34512196], [34512334, 34512422], [34513109, 34513189], [34514391, 34514540], [34514637, 34514737], [34517282, 34517465], [34520655, 34520754]]
ENST00000545019 [[34458886, 34459051], [34483445, 34483478], [34485139, 34485238], [34485434, 34485515], [34487943, 34488890]] [[34459003, 34459051], [34483445, 34483478], [34485139, 34485238], [34485434, 34485515], [34487943, 34488189]]
ENST00000488369 [[34485043, 34485238], [34485434, 34485515], [34487943, 34488016], [34489171, 34489199], [34489320, 34489447], [34490009, 34490122], [34490366, 34490486], [34491492, 34491552], [34493191, 34493326]] None
ENST00000488790 [[34491340, 34491552], [34493191, 34493219]] None
ENST00000470169 [[34506624, 34506872], [34512106, 34512196], [34512334, 34512422], [34513109, 34513189], [34514637, 34514737], [34517282, 34517465]] [[34506624, 34506872], [34512106, 34512196], [34512334, 34512422], [34513109, 34513189], [34514637, 34514658]]
ENST00000442556 [[34513109, 34513189], [34514391, 34514540], [34514637, 34514737], [34520655, 34520982]] [[34513109, 34513189], [34514391, 34514540], [34514637, 34514737], [34520655, 34520754]]
ENST00000485580 [[34513141, 34513189], [34514391, 34514737], [34517282, 34517465]] None
NM_012144 [[34458749, 34459051], [34483445, 34483478], [34485139, 34485238], [34485434, 34485515], [34489320, 34489447], [34490009, 34490122], [34490366, 34490486], [34491492, 34491552], [34493191, 34493326], [34497112, 34497197], [34500719, 34500837], [34501135, 34501179], [34506624, 34506872], [34512106, 34512196], [34512334, 34512422], [34513109, 34513189], [34514391, 34514540], [34514637, 34514737], [34517282, 34517465], [34520655, 34520987]] [[34459003, 34459051], [34483445, 34483478], [34485139, 34485238], [34485434, 34485515], [34489320, 34489447], [34490009, 34490122], [34490366, 34490486], [34491492, 34491552], [34493191, 34493326], [34497112, 34497197], [34500719, 34500837], [34501135, 34501179], [34506624, 34506872], [34512106, 34512196], [34512334, 34512422], [34513109, 34513189], [34514391, 34514540], [34514637, 34514737], [34517282, 34517465], [34520655, 34520754]]
NM_001281428 [[34458749, 34459051], [34483445, 34483478], [34485139, 34485238], [34485434, 34485515], [34489320, 34489447], [34489997, 34490122], [34490366, 34490486], [34491492, 34491552], [34493191, 34493326], [34497112, 34497197], [34500719, 34500837], [34501135, 34501179], [34506624, 34506872], [34512106, 34512196], [34512334, 34512422], [34513109, 34513189], [34514391, 34514540], [34514637, 34514737], [34517282, 34517465], [34520655, 34520987]] [[34459003, 34459051], [34483445, 34483478], [34485139, 34485238], [34485434, 34485515], [34489320, 34489447], [34489997, 34490122], [34490366, 34490486], [34491492, 34491552], [34493191, 34493326], [34497112, 34497197], [34500719, 34500837], [34501135, 34501179], [34506624, 34506872], [34512106, 34512196], [34512334, 34512422], [34513109, 34513189], [34514391, 34514540], [34514637, 34514737], [34517282, 34517465], [34520655, 34520754]]
Promoter
Chrom Start End Description
chr9 34458771 34458850 CAGE_peak_1_at_DNAI1_5end
chr9 34458851 34458908 CAGE_peak_2_at_DNAI1_5end
chr9 34458915 34458925 CAGE_peak_4_at_DNAI1_5end
chr9 34484972 34484978 CAGE_peak_8_at_DNAI1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I034403 34403883 34404032 0.69 [{'connected_gene': 'C9orf24', 'score': 0.44}, {'connected_gene': 'DNAI1', 'score': 0.23}, {'connected_gene': 'FAM219A', 'score': 0.23}]
chr9 GH09I034346 34346820 34348037 0.83 [{'connected_gene': 'MYORG', 'score': 11.88}, {'connected_gene': 'C9orf24', 'score': 11.8}, {'connected_gene': 'RNU2-50P', 'score': 10.65}, {'connected_gene': 'DNAI1', 'score': 10.09}, {'connected_gene': 'FAM219A', 'score': 10.08}, {'connected_gene': 'IMPDH1P1', 'score': 9.98}, {'connected_gene': 'DCAF12', 'score': 9.98}, {'connected_gene': 'ENSG00000230729', 'score': 9.9}, {'connected_gene': 'RPP25L', 'score': 9.85}, {'connected_gene': 'KIF24', 'score': 8.12}, {'connected_gene': 'GC09P034356', 'score': 0.44}, {'connected_gene': 'NUDT2', 'score': 0.37}]
chr9 GH09I034452 34452223 34452410 0.22 [{'connected_gene': 'ENHO', 'score': 12.23}, {'connected_gene': 'CNTFR', 'score': 11.78}, {'connected_gene': 'RPP25L', 'score': 11.01}, {'connected_gene': 'ENSG00000230729', 'score': 10.73}, {'connected_gene': 'DCTN3', 'score': 9.77}, {'connected_gene': 'NUDT2', 'score': 6.5}, {'connected_gene': 'ARID3C', 'score': 5.97}, {'connected_gene': 'FAM219A', 'score': 1.82}, {'connected_gene': 'DNAI1', 'score': 0.44}, {'connected_gene': 'C9orf24', 'score': 0.23}]
chr9 GH09I034372 34372400 34373431 0.49 [{'connected_gene': 'NUDT2', 'score': 31.68}, {'connected_gene': 'C9orf24', 'score': 12.27}, {'connected_gene': 'RNU2-50P', 'score': 10.51}, {'connected_gene': 'DNAI1', 'score': 10.13}, {'connected_gene': 'FAM219A', 'score': 10.12}, {'connected_gene': 'RPP25L', 'score': 9.94}, {'connected_gene': 'KIF24', 'score': 8.67}, {'connected_gene': 'UBAP1', 'score': 7.8}, {'connected_gene': 'MYORG', 'score': 0.77}]
chr9 GH09I034341 34341312 34346340 1.02 [{'connected_gene': 'NUDT2', 'score': 50.6}, {'connected_gene': 'MYORG', 'score': 11.86}, {'connected_gene': 'C9orf24', 'score': 11.8}, {'connected_gene': 'RNU2-50P', 'score': 10.65}, {'connected_gene': 'DNAI1', 'score': 10.08}, {'connected_gene': 'FAM219A', 'score': 10.08}, {'connected_gene': 'IMPDH1P1', 'score': 9.98}, {'connected_gene': 'DCAF12', 'score': 9.98}, {'connected_gene': 'ENSG00000230729', 'score': 9.9}, {'connected_gene': 'RPP25L', 'score': 9.85}, {'connected_gene': 'FANCG', 'score': 7.9}, {'connected_gene': 'UBAP1', 'score': 7.81}, {'connected_gene': 'GC09P034356', 'score': 0.39}, {'connected_gene': 'KIF24', 'score': 0.37}]
chr9 GH09I034446 34446723 34446872 0.2 [{'connected_gene': 'DNAI1', 'score': 0.39}, {'connected_gene': 'FAM219A', 'score': 0.39}, {'connected_gene': 'C9orf24', 'score': 0.25}]
chr9 GH09I034455 34454600 34454801 0.64 [{'connected_gene': 'DNAI1', 'score': 0.77}, {'connected_gene': 'FAM219A', 'score': 0.77}, {'connected_gene': 'C9orf24', 'score': 0.22}]
chr9 GH09I034363 34363035 34365649 0.92 [{'connected_gene': 'DNAI1', 'score': 10.54}, {'connected_gene': 'FAM219A', 'score': 10.54}, {'connected_gene': 'RPP25L', 'score': 10.29}, {'connected_gene': 'ENSG00000230729', 'score': 9.8}, {'connected_gene': 'ENSG00000228352', 'score': 9.74}, {'connected_gene': 'UBAP1', 'score': 7.8}, {'connected_gene': 'KIF24', 'score': 0.77}, {'connected_gene': 'MYORG', 'score': 0.39}]
chr9 GH09I034430 34430863 34431012 0.52 [{'connected_gene': 'DNAI1', 'score': 12.28}, {'connected_gene': 'FAM219A', 'score': 12.28}, {'connected_gene': 'ENSG00000230729', 'score': 11.29}, {'connected_gene': 'RPP25L', 'score': 10.99}, {'connected_gene': 'ENHO', 'score': 10.72}, {'connected_gene': 'ARID3C', 'score': 10.61}, {'connected_gene': 'SIGMAR1', 'score': 10.61}, {'connected_gene': 'GALT', 'score': 10.61}, {'connected_gene': 'DCTN3', 'score': 10.32}, {'connected_gene': 'C9orf24', 'score': 0.29}]
chr9 GH09I034431 34431083 34431232 0.59 [{'connected_gene': 'DNAI1', 'score': 12.28}, {'connected_gene': 'FAM219A', 'score': 12.28}, {'connected_gene': 'ENSG00000230729', 'score': 11.29}, {'connected_gene': 'RPP25L', 'score': 10.99}, {'connected_gene': 'ENHO', 'score': 10.72}, {'connected_gene': 'ARID3C', 'score': 10.61}, {'connected_gene': 'SIGMAR1', 'score': 10.61}, {'connected_gene': 'GALT', 'score': 10.61}, {'connected_gene': 'DCTN3', 'score': 10.32}, {'connected_gene': 'C9orf24', 'score': 0.29}]
chr9 GH09I034463 34463803 34463952 0.74 [{'connected_gene': 'DNAI1', 'score': 0.44}, {'connected_gene': 'FAM219A', 'score': 0.44}, {'connected_gene': 'RN7SKP24', 'score': 0.39}]
chr9 GH09I034459 34459263 34459299 0.59 [{'connected_gene': 'DNAI1', 'score': 550.77}, {'connected_gene': 'FAM219A', 'score': 550.77}, {'connected_gene': 'RN7SKP24', 'score': 0.37}]
chr9 GH09I034501 34501873 34502439 0.54 [{'connected_gene': 'FAM219A', 'score': 17.03}, {'connected_gene': 'ENSG00000232983', 'score': 12.14}, {'connected_gene': 'CNTFR-AS1', 'score': 12.08}, {'connected_gene': 'DNAI1', 'score': 11.35}, {'connected_gene': 'RPP25L', 'score': 10.43}, {'connected_gene': 'ARID3C', 'score': 10.24}, {'connected_gene': 'SIGMAR1', 'score': 10.23}, {'connected_gene': 'GALT', 'score': 10.23}, {'connected_gene': 'PIR54959', 'score': 0.39}, {'connected_gene': 'RN7SKP24', 'score': 0.34}]
chr9 GH09I034500 34500763 34500932 0.65 [{'connected_gene': 'FAM219A', 'score': 15.32}, {'connected_gene': 'ENSG00000230729', 'score': 11.66}, {'connected_gene': 'ENHO', 'score': 11.48}, {'connected_gene': 'DNAI1', 'score': 11.31}, {'connected_gene': 'ARID3C', 'score': 10.21}, {'connected_gene': 'SIGMAR1', 'score': 10.2}, {'connected_gene': 'GALT', 'score': 10.2}, {'connected_gene': 'PIR54959', 'score': 0.37}, {'connected_gene': 'RN7SKP24', 'score': 0.34}]
chr9 GH09I034437 34437463 34437632 0.62 [{'connected_gene': 'FAM219A', 'score': 12.3}, {'connected_gene': 'NUDT2', 'score': 11.53}, {'connected_gene': 'ENSG00000230729', 'score': 11.31}, {'connected_gene': 'RPP25L', 'score': 10.99}, {'connected_gene': 'ENHO', 'score': 10.73}, {'connected_gene': 'ARID3C', 'score': 10.62}, {'connected_gene': 'SIGMAR1', 'score': 10.61}, {'connected_gene': 'GALT', 'score': 10.61}, {'connected_gene': 'DCTN3', 'score': 10.32}, {'connected_gene': 'DNAI1', 'score': 0.37}, {'connected_gene': 'C9orf24', 'score': 0.28}]
chr9 GH09I034454 34454843 34455072 0.69 [{'connected_gene': 'FAM219A', 'score': 6.45}, {'connected_gene': 'DNAI1', 'score': 0.77}, {'connected_gene': 'C9orf24', 'score': 0.22}]
chr9 GH09I034456 34456285 34459232 2 [{'connected_gene': 'FAM219A', 'score': 556.45}, {'connected_gene': 'DNAI1', 'score': 550.77}, {'connected_gene': 'FANCG', 'score': 13.79}, {'connected_gene': 'NUDT2', 'score': 5.46}]
chr9 GH09I034450 34450956 34451821 0.72 [{'connected_gene': 'RPP25L', 'score': 11.0}, {'connected_gene': 'ENHO', 'score': 10.97}, {'connected_gene': 'ENSG00000230729', 'score': 10.72}, {'connected_gene': 'CNTFR', 'score': 10.31}, {'connected_gene': 'DCTN3', 'score': 9.77}, {'connected_gene': 'FAM219A', 'score': 6.12}, {'connected_gene': 'DNAI1', 'score': 0.44}, {'connected_gene': 'C9orf24', 'score': 0.23}]
chr9 GH09I034513 34513530 34514025 0.49 [{'connected_gene': 'CNTFR', 'score': 11.31}, {'connected_gene': 'DNAI1', 'score': 11.19}, {'connected_gene': 'FAM219A', 'score': 11.19}, {'connected_gene': 'RPP25L', 'score': 10.85}, {'connected_gene': 'ARID3C', 'score': 10.25}, {'connected_gene': 'SIGMAR1', 'score': 10.25}, {'connected_gene': 'GALT', 'score': 10.25}, {'connected_gene': 'FANCG', 'score': 5.0}, {'connected_gene': 'PIR54959', 'score': 0.77}, {'connected_gene': 'RN7SKP24', 'score': 0.28}]
chr9 GH09I034511 34511223 34511372 0.2 [{'connected_gene': 'CNTFR', 'score': 11.31}, {'connected_gene': 'DNAI1', 'score': 11.2}, {'connected_gene': 'FAM219A', 'score': 11.2}, {'connected_gene': 'RPP25L', 'score': 10.84}, {'connected_gene': 'SIGMAR1', 'score': 10.25}, {'connected_gene': 'GALT', 'score': 10.25}, {'connected_gene': 'ARID3C', 'score': 10.25}, {'connected_gene': 'PIR54959', 'score': 0.77}, {'connected_gene': 'RN7SKP24', 'score': 0.29}]
chr9 GH09I034512 34512701 34513518 0.73 [{'connected_gene': 'CNTFR', 'score': 11.31}, {'connected_gene': 'FAM219A', 'score': 11.2}, {'connected_gene': 'DNAI1', 'score': 11.19}, {'connected_gene': 'RPP25L', 'score': 10.85}, {'connected_gene': 'GALT', 'score': 10.25}, {'connected_gene': 'ARID3C', 'score': 10.25}, {'connected_gene': 'SIGMAR1', 'score': 10.25}, {'connected_gene': 'PIR54959', 'score': 0.77}, {'connected_gene': 'RN7SKP24', 'score': 0.29}]
chr9 GH09I034514 34512543 34512692 0.67 [{'connected_gene': 'CNTFR', 'score': 11.31}, {'connected_gene': 'FAM219A', 'score': 11.2}, {'connected_gene': 'DNAI1', 'score': 11.19}, {'connected_gene': 'RPP25L', 'score': 10.85}, {'connected_gene': 'SIGMAR1', 'score': 10.25}, {'connected_gene': 'GALT', 'score': 10.25}, {'connected_gene': 'ARID3C', 'score': 10.25}, {'connected_gene': 'NUDT2', 'score': 5.81}, {'connected_gene': 'PIR54959', 'score': 0.77}, {'connected_gene': 'RN7SKP24', 'score': 0.29}]
chr9 GH09I034484 34484803 34484972 0.54 [{'connected_gene': 'RN7SKP24', 'score': 0.44}, {'connected_gene': 'DNAI1', 'score': 0.31}, {'connected_gene': 'PIR54959', 'score': 0.29}]
chr9 GH09I034441 34441001 34441200 0.2 [{'connected_gene': 'ENSG00000232983', 'score': 11.27}, {'connected_gene': 'CNTFR-AS1', 'score': 11.26}, {'connected_gene': 'RPP25L', 'score': 10.76}, {'connected_gene': 'ENHO', 'score': 10.73}, {'connected_gene': 'ARID3C', 'score': 10.37}, {'connected_gene': 'ENSG00000230729', 'score': 10.26}, {'connected_gene': 'DCTN3', 'score': 10.21}, {'connected_gene': 'DNAI1', 'score': 0.37}, {'connected_gene': 'FAM219A', 'score': 0.37}, {'connected_gene': 'C9orf24', 'score': 0.26}]
chr9 GH09I034575 34575665 34580790 0.77 [{'connected_gene': 'GC09P034579', 'score': 550.77}, {'connected_gene': 'GC09P034580', 'score': 550.77}, {'connected_gene': 'GALT', 'score': 26.13}, {'connected_gene': 'RPP25L', 'score': 22.39}, {'connected_gene': 'ENSG00000230074', 'score': 15.55}, {'connected_gene': 'ENHO', 'score': 15.51}, {'connected_gene': 'FAM219A', 'score': 14.09}, {'connected_gene': 'ENSG00000232983', 'score': 13.54}, {'connected_gene': 'ARID3C', 'score': 12.12}, {'connected_gene': 'CNTFR', 'score': 11.37}, {'connected_gene': 'ENSG00000230729', 'score': 10.98}, {'connected_gene': 'SIGMAR1', 'score': 10.74}, {'connected_gene': 'DNAI1', 'score': 10.51}, {'connected_gene': 'DCTN3', 'score': 10.44}, {'connected_gene': 'IL11RA', 'score': 10.15}, {'connected_gene': 'CCL19', 'score': 9.62}, {'connected_gene': 'DNAJB5', 'score': 4.58}, {'connected_gene': 'PHF24', 'score': 3.22}, {'connected_gene': 'LOC105376023', 'score': 0.44}, {'connected_gene': 'CNTFR-AS1', 'score': 0.39}]

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