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
ENST00000536402 [[108083522, 108083701], [108133824, 108134090], [108168470, 108168644], [108171408, 108171508], [108203467, 108203651], [108207065, 108207203], [108207793, 108207913], [108281830, 108281923], [108290429, 108290568], [108294925, 108295018]] [[108133883, 108134090], [108168470, 108168644], [108171408, 108171508], [108203467, 108203651], [108207065, 108207203], [108207793, 108207913], [108281830, 108281888]]
ENST00000281092 [[108083522, 108083701], [108103793, 108103939], [108133824, 108134090], [108168470, 108168644], [108171408, 108171508], [108203467, 108203651], [108207065, 108207203], [108207793, 108207913], [108219096, 108219219], [108233359, 108233549], [108281830, 108281923], [108290429, 108290633], [108294925, 108295048], [108373122, 108373179], [108380380, 108380496], [108382804, 108382899], [108436096, 108436220], [108516447, 108516602], [108521900, 108522023], [108523133, 108532542]] [[108133883, 108134090], [108168470, 108168644], [108171408, 108171508], [108203467, 108203651], [108207065, 108207203], [108207793, 108207913], [108219096, 108219219], [108233359, 108233549], [108281830, 108281923], [108290429, 108290633], [108294925, 108295048], [108373122, 108373179], [108380380, 108380496], [108382804, 108382899], [108436096, 108436220], [108516447, 108516602], [108521900, 108522023], [108523133, 108523276]]
ENST00000509035 [[108083541, 108083701], [108133824, 108134090], [108168470, 108168625]] None
ENST00000513676 [[108084099, 108084334], [108133824, 108134090], [108168470, 108168521]] None
ENST00000504143 [[108084662, 108084694], [108103793, 108103939], [108133824, 108134090], [108203467, 108203651], [108207065, 108207203], [108207793, 108207913], [108219096, 108219219], [108233359, 108233549], [108281830, 108281923], [108290429, 108290633], [108294925, 108295048], [108373122, 108373179], [108380380, 108380496], [108382804, 108382899], [108436096, 108436220], [108516447, 108516602], [108521900, 108522023], [108523133, 108523976]] [[108133883, 108134090], [108203467, 108203515]]
ENST00000502752 [[108084667, 108084694], [108103793, 108103939], [108118363, 108118456], [108133824, 108134090], [108168470, 108168644], [108171408, 108171508], [108177531, 108177569], [108177962, 108178702]] None
ENST00000438717 [[108133814, 108134090], [108203467, 108203651], [108207065, 108207203], [108207793, 108207913], [108219096, 108219219], [108233359, 108233549], [108281830, 108281923], [108290429, 108290633], [108294925, 108295048], [108373122, 108373179], [108380380, 108380496], [108382804, 108382899], [108436096, 108436220], [108516447, 108516602], [108521900, 108522023], [108523133, 108523934]] [[108203511, 108203651], [108207065, 108207203], [108207793, 108207913], [108219096, 108219219], [108233359, 108233549], [108281830, 108281923], [108290429, 108290633], [108294925, 108295048], [108373122, 108373179], [108380380, 108380496], [108382804, 108382899], [108436096, 108436220], [108516447, 108516602], [108521900, 108522023], [108523133, 108523276]]
ENST00000505323 [[108260308, 108260490], [108281830, 108281923], [108290429, 108290633], [108294925, 108295048], [108373122, 108373179], [108380380, 108380527]] None
ENST00000513777 [[108513217, 108513330], [108516447, 108516602], [108521900, 108522023], [108523133, 108523368]] None
NM_005246 [[108083522, 108083701], [108103793, 108103939], [108133824, 108134090], [108168470, 108168644], [108171408, 108171508], [108203467, 108203651], [108207065, 108207203], [108207793, 108207913], [108219096, 108219219], [108233359, 108233549], [108281830, 108281923], [108290429, 108290633], [108294925, 108295048], [108373122, 108373179], [108380380, 108380496], [108382804, 108382899], [108436096, 108436220], [108516447, 108516602], [108521900, 108522023], [108523133, 108532542]] [[108133883, 108134090], [108168470, 108168644], [108171408, 108171508], [108203467, 108203651], [108207065, 108207203], [108207793, 108207913], [108219096, 108219219], [108233359, 108233549], [108281830, 108281923], [108290429, 108290633], [108294925, 108295048], [108373122, 108373179], [108380380, 108380496], [108382804, 108382899], [108436096, 108436220], [108516447, 108516602], [108521900, 108522023], [108523133, 108523276]]
NM_001308038 [[108084627, 108084694], [108103793, 108103939], [108118363, 108118456], [108133824, 108134090], [108168470, 108168644], [108171408, 108171508], [108177531, 108177569], [108177962, 108178701]] [[108133883, 108134090], [108168470, 108168644], [108171408, 108171508], [108177531, 108177542]]
NM_001308028 [[108084627, 108084694], [108103793, 108103939], [108133824, 108134090], [108203467, 108203651], [108207065, 108207203], [108207793, 108207913], [108219096, 108219219], [108233359, 108233549], [108281830, 108281923], [108290429, 108290633], [108294925, 108295048], [108373122, 108373179], [108380380, 108380496], [108382804, 108382899], [108436096, 108436220], [108516447, 108516602], [108521900, 108522023], [108523133, 108532542]] [[108203511, 108203651], [108207065, 108207203], [108207793, 108207913], [108219096, 108219219], [108233359, 108233549], [108281830, 108281923], [108290429, 108290633], [108294925, 108295048], [108373122, 108373179], [108380380, 108380496], [108382804, 108382899], [108436096, 108436220], [108516447, 108516602], [108521900, 108522023], [108523133, 108523276]]
NM_001308031 [[108260306, 108260490], [108281830, 108281923], [108290429, 108290633], [108294925, 108295048], [108373122, 108373179], [108380380, 108380496], [108382804, 108382899], [108436096, 108436220], [108516447, 108516602], [108521900, 108522023], [108523133, 108532542]] [[108260361, 108260490], [108281830, 108281923], [108290429, 108290633], [108294925, 108295048], [108373122, 108373179], [108380380, 108380496], [108382804, 108382899], [108436096, 108436220], [108516447, 108516602], [108521900, 108522023], [108523133, 108523276]]
Promoter
Chrom Start End Description
chr5 108083517 108083576 CAGE_peak_3_at_FER_5end
chr5 108083581 108083637 CAGE_peak_2_at_FER_5end
chr5 108083641 108083654 CAGE_peak_7_at_FER_5end
chr5 108084116 108084134 CAGE_peak_6_at_FER_5end
chr5 108084633 108084678 CAGE_peak_1_at_FER_5end
chr5 108084680 108084698 CAGE_peak_5_at_FER_5end
chr5 108260267 108260280 CAGE_peak_9_at_FER_5end
chr5 108260286 108260322 CAGE_peak_4_at_FER_5end
chr5 108260329 108260344 CAGE_peak_8_at_FER_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I108379 108379734 108384001 2.3 [{'connected_gene': 'FBXL17', 'score': 555.02}, {'connected_gene': 'FER', 'score': 9.82}, {'connected_gene': 'GC05P108054', 'score': 0.05}]
chr5 GH05I108530 108530588 108532229 0.99 [{'connected_gene': 'LOC285638', 'score': 12.61}, {'connected_gene': 'LINC01023', 'score': 11.54}, {'connected_gene': 'FER', 'score': 10.67}, {'connected_gene': 'GC05P108543', 'score': 0.39}, {'connected_gene': 'LOC105379114', 'score': 0.21}]
chr5 GH05I109063 109063360 109063509 0.2 [{'connected_gene': 'GJA1P1', 'score': 0.39}, {'connected_gene': 'GC05P109192', 'score': 0.13}, {'connected_gene': 'FER', 'score': 0.06}]
chr5 GH05I109054 109054140 109054189 0.62 [{'connected_gene': 'GJA1P1', 'score': 550.77}, {'connected_gene': 'GC05M109052', 'score': 550.77}, {'connected_gene': 'GC05P109192', 'score': 0.12}, {'connected_gene': 'FER', 'score': 0.06}]
chr5 GH05I109105 109105143 109106555 0.74 [{'connected_gene': 'GJA1P1', 'score': 0.23}, {'connected_gene': 'GC05P109192', 'score': 0.17}, {'connected_gene': 'FER', 'score': 0.05}]
chr5 GH05I109484 109484580 109485466 0.94 [{'connected_gene': 'FER', 'score': 25.16}, {'connected_gene': 'LOC285638', 'score': 11.77}, {'connected_gene': 'ENSG00000248876', 'score': 0.39}, {'connected_gene': 'ENSG00000248440', 'score': 0.39}, {'connected_gene': 'LOC105379117', 'score': 0.37}]
chr5 GH05I108746 108746902 108750561 2.3 [{'connected_gene': 'FER', 'score': 559.7}, {'connected_gene': 'LINC01023', 'score': 4.8}, {'connected_gene': 'LOC100422561', 'score': 0.28}]
chr5 GH05I108872 108872101 108873948 0.2 [{'connected_gene': 'FER', 'score': 16.88}, {'connected_gene': 'ENSG00000250383', 'score': 11.4}, {'connected_gene': 'LINC01023', 'score': 4.48}, {'connected_gene': 'GC05P108892', 'score': 0.37}]
chr5 GH05I108742 108742847 108744609 0.43 [{'connected_gene': 'FER', 'score': 8.28}, {'connected_gene': 'LINC01023', 'score': 4.82}, {'connected_gene': 'GC05P108729', 'score': 0.39}]
chr5 GH05I108752 108752121 108754615 1.11 [{'connected_gene': 'FER', 'score': 9.34}, {'connected_gene': 'LOC100422561', 'score': 0.29}]
chr5 GH05I108800 108800973 108802782 1.14 [{'connected_gene': 'FER', 'score': 16.73}, {'connected_gene': 'ENSG00000250383', 'score': 12.88}, {'connected_gene': 'LOC100422561', 'score': 0.37}]
chr5 GH05I108687 108687980 108688070 0.31 [{'connected_gene': 'FER', 'score': 11.51}, {'connected_gene': 'GC05M108715', 'score': 0.28}, {'connected_gene': 'PIR47866', 'score': 0.23}]
chr5 GH05I108685 108685601 108687673 1.19 [{'connected_gene': 'FER', 'score': 11.51}, {'connected_gene': 'GC05M108715', 'score': 0.28}, {'connected_gene': 'PIR47866', 'score': 0.23}]
chr5 GH05I108884 108884231 108885445 0.58 [{'connected_gene': 'FER', 'score': 9.03}, {'connected_gene': 'GC05P108892', 'score': 0.44}, {'connected_gene': 'ENSG00000250383', 'score': 0.23}]
chr5 GH05I108834 108834696 108834713 0.23 [{'connected_gene': 'FER', 'score': 1.91}, {'connected_gene': 'ENSG00000250383', 'score': 0.77}, {'connected_gene': 'GC05P108892', 'score': 0.22}]
chr5 GH05I108735 108735749 108736106 0.89 [{'connected_gene': 'FER', 'score': 19.22}, {'connected_gene': 'GC05P108729', 'score': 0.44}]
chr5 GH05I109468 109468601 109469029 1.21 [{'connected_gene': 'LOC105379117', 'score': 550.77}, {'connected_gene': 'ENSG00000251367', 'score': 550.77}, {'connected_gene': 'FER', 'score': 58.67}, {'connected_gene': 'LINC01023', 'score': 12.29}]
chr5 GH05I108924 108924060 108924816 0.79 [{'connected_gene': 'LOC100820733', 'score': 0.31}, {'connected_gene': 'GC05P108970', 'score': 0.25}, {'connected_gene': 'FER', 'score': 0.1}]
chr5 GH05I109190 109190616 109192297 1 [{'connected_gene': 'GC05P109192', 'score': 550.77}, {'connected_gene': 'GJA1P1', 'score': 0.12}, {'connected_gene': 'FER', 'score': 0.05}]
chr5 GH05I109161 109161732 109162655 0.71 [{'connected_gene': 'GC05P109192', 'score': 0.29}, {'connected_gene': 'GJA1P1', 'score': 0.14}, {'connected_gene': 'FER', 'score': 0.05}]
chr5 GH05I109125 109125105 109125207 0.22 [{'connected_gene': 'GC05P109192', 'score': 0.2}, {'connected_gene': 'GJA1P1', 'score': 0.19}, {'connected_gene': 'FER', 'score': 0.05}]
chr5 GH05I109176 109176900 109177890 0.2 [{'connected_gene': 'GC05P109192', 'score': 0.39}, {'connected_gene': 'GJA1P1', 'score': 0.13}, {'connected_gene': 'FER', 'score': 0.04}]
chr5 GH05I109192 109192699 109193569 0.2 [{'connected_gene': 'GC05P109192', 'score': 550.77}, {'connected_gene': 'GC05M109214', 'score': 0.18}, {'connected_gene': 'FER', 'score': 0.05}]
chr5 GH05I108858 108858801 108859401 0.93 [{'connected_gene': 'ENSG00000250383', 'score': 11.49}, {'connected_gene': 'GC05P108892', 'score': 0.29}, {'connected_gene': 'FER', 'score': 0.14}]
chr5 GH05I108993 108993333 108993684 0.25 [{'connected_gene': 'GC05M109016', 'score': 0.34}, {'connected_gene': 'RNU6-47P', 'score': 0.34}, {'connected_gene': 'GC05P108970', 'score': 0.34}, {'connected_gene': 'FER', 'score': 0.07}]
chr5 GH05I108935 108935720 108935869 0.2 [{'connected_gene': 'GC05P108970', 'score': 0.29}, {'connected_gene': 'LOC100820733', 'score': 0.26}, {'connected_gene': 'FER', 'score': 0.09}]
chr5 GH05I108726 108726471 108729337 1.59 [{'connected_gene': 'GC05M108725', 'score': 550.77}, {'connected_gene': 'LINC01023', 'score': 550.77}, {'connected_gene': 'LOC285638', 'score': 12.62}, {'connected_gene': 'FER', 'score': 8.22}, {'connected_gene': 'GC05M108715', 'score': 0.77}]
chr5 GH05I108729 108729400 108729549 0.54 [{'connected_gene': 'GC05M108725', 'score': 550.77}, {'connected_gene': 'GC05P108729', 'score': 550.77}, {'connected_gene': 'LINC01023', 'score': 550.77}, {'connected_gene': 'FER', 'score': 6.83}]
chr5 GH05I108818 108818601 108818801 0.57 [{'connected_gene': 'ENSG00000250383', 'score': 0.39}, {'connected_gene': 'LOC100422561', 'score': 0.29}, {'connected_gene': 'FER', 'score': 0.19}]