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
ENST00000602661 [[108320410, 108320446], [108335935, 108336027], [108337225, 108337418], [108358878, 108358938], [108363425, 108363629], [108366495, 108366773], [108370099, 108370232], [108377558, 108377688], [108380239, 108380373], [108382214, 108382342], [108397331, 108398519]] [[108337313, 108337418], [108358878, 108358938], [108363425, 108363629], [108366495, 108366773], [108370099, 108370232], [108377558, 108377688], [108380239, 108380373], [108382214, 108382342], [108397331, 108397545]]
ENST00000223528 [[108320410, 108320446], [108337225, 108337418], [108358878, 108358938], [108363425, 108363629], [108366495, 108366773], [108370099, 108370232], [108377558, 108377688], [108380239, 108380373], [108382214, 108382342], [108397331, 108403399]] [[108337313, 108337418], [108358878, 108358938], [108363425, 108363629], [108366495, 108366773], [108370099, 108370232], [108377558, 108377688], [108380239, 108380373], [108382214, 108382342], [108397331, 108397545]]
ENST00000540160 [[108320412, 108320446], [108337225, 108337418], [108358878, 108358938], [108363425, 108363629], [108366495, 108366773], [108370099, 108370232], [108397331, 108397581]] [[108337313, 108337418], [108358878, 108358938], [108363425, 108363629], [108366495, 108366773], [108370099, 108370232], [108397331, 108397367]]
ENST00000448551 [[108320412, 108320446], [108335935, 108336027], [108337225, 108337418], [108358878, 108358938], [108363425, 108363629], [108366495, 108366773], [108370099, 108370232], [108377558, 108377688], [108380239, 108380373], [108382214, 108382342], [108397331, 108397429], [108402381, 108402597]] [[108337313, 108337418], [108358878, 108358938], [108363425, 108363629], [108366495, 108366773], [108370099, 108370232], [108377558, 108377688], [108380239, 108380373], [108382214, 108382342], [108397331, 108397429], [108402381, 108402404]]
ENST00000357998 [[108337197, 108337418], [108358878, 108358938], [108363425, 108363629], [108366495, 108366773], [108370099, 108370232], [108377558, 108377688], [108380239, 108380373], [108382214, 108382342], [108397331, 108397429], [108402381, 108402597]] [[108337313, 108337418], [108358878, 108358938], [108363425, 108363629], [108366495, 108366773], [108370099, 108370232], [108377558, 108377688], [108380239, 108380373], [108382214, 108382342], [108397331, 108397429], [108402381, 108402404]]
ENST00000602526 [[108337281, 108337418], [108358878, 108358938], [108363198, 108363322], [108363425, 108363629], [108365979, 108366097], [108366495, 108366773], [108370099, 108370232], [108377558, 108377688], [108380239, 108380373], [108382214, 108382342], [108397331, 108402921]] [[108337313, 108337418], [108358878, 108358938], [108363198, 108363237]]
ENST00000457847 [[108380239, 108380373], [108382214, 108382342], [108397331, 108397429], [108398953, 108399199]] [[108380239, 108380373], [108382214, 108382342], [108397331, 108397429], [108398953, 108399075]]
ENST00000490134 [[108320421, 108320446], [108337225, 108337418], [108358878, 108359011]] None
ENST00000479846 [[108320430, 108320446], [108335935, 108336027], [108336478, 108336613], [108337225, 108337299]] None
ENST00000374705 [[108337400, 108337418], [108358878, 108358938], [108360366, 108360464], [108363425, 108363629], [108366495, 108366773], [108370099, 108370227]] [[108360368, 108360464], [108363425, 108363629], [108366495, 108366773], [108370099, 108370227]]
NM_006731 [[108320410, 108320446], [108337225, 108337418], [108358878, 108358938], [108363425, 108363629], [108366495, 108366773], [108370099, 108370232], [108377558, 108377688], [108380239, 108380373], [108382214, 108382342], [108397331, 108403399]] [[108337313, 108337418], [108358878, 108358938], [108363425, 108363629], [108366495, 108366773], [108370099, 108370232], [108377558, 108377688], [108380239, 108380373], [108382214, 108382342], [108397331, 108397545]]
NM_001198963 [[108320410, 108320446], [108335935, 108336027], [108337225, 108337418], [108358878, 108358938], [108363425, 108363629], [108366495, 108366773], [108370099, 108370232], [108377558, 108377688], [108380239, 108380373], [108382214, 108382342], [108397331, 108397429], [108402381, 108403399]] [[108337313, 108337418], [108358878, 108358938], [108363425, 108363629], [108366495, 108366773], [108370099, 108370232], [108377558, 108377688], [108380239, 108380373], [108382214, 108382342], [108397331, 108397429], [108402381, 108402404]]
NM_001079802 [[108320410, 108320446], [108335935, 108336027], [108337225, 108337418], [108358878, 108358938], [108363425, 108363629], [108366495, 108366773], [108370099, 108370232], [108377558, 108377688], [108380239, 108380373], [108382214, 108382342], [108397331, 108403399]] [[108337313, 108337418], [108358878, 108358938], [108363425, 108363629], [108366495, 108366773], [108370099, 108370232], [108377558, 108377688], [108380239, 108380373], [108382214, 108382342], [108397331, 108397545]]
Promoter
Chrom Start End Description
chr9 108320392 108320444 CAGE_peak_1_at_FKTN_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I105446 105446990 105449879 2.19 [{'connected_gene': 'FSD1L', 'score': 556.96}, {'connected_gene': 'FKTN', 'score': 6.83}, {'connected_gene': 'RALGAPA1P1', 'score': 0.19}]
chr9 GH09I105500 105500001 105501200 0.88 [{'connected_gene': 'FSD1L', 'score': 10.76}, {'connected_gene': 'FKTN', 'score': 6.17}, {'connected_gene': 'RALGAPA1P1', 'score': 0.37}]
chr9 GH09I105632 105632803 105634139 0.31 [{'connected_gene': 'FSD1L', 'score': 5.84}, {'connected_gene': 'ENSG00000279609', 'score': 0.34}, {'connected_gene': 'GC09M105565', 'score': 0.2}, {'connected_gene': 'FKTN', 'score': 0.18}]
chr9 GH09I105609 105609100 105609249 0.6 [{'connected_gene': 'TAL2', 'score': 11.62}, {'connected_gene': 'GC09M105565', 'score': 0.26}, {'connected_gene': 'ENSG00000279609', 'score': 0.25}, {'connected_gene': 'FKTN', 'score': 0.23}]
chr9 GH09I104763 104763261 104765247 1.9 [{'connected_gene': 'NIPSNAP3B', 'score': 560.49}, {'connected_gene': 'NIPSNAP3A', 'score': 20.0}, {'connected_gene': 'RALGAPA1P1', 'score': 12.47}, {'connected_gene': 'FKTN', 'score': 10.46}, {'connected_gene': 'GC09P104774', 'score': 0.39}]
chr9 GH09I105646 105646692 105648349 0.93 [{'connected_gene': 'TMEM38B', 'score': 11.1}, {'connected_gene': 'FKTN', 'score': 6.64}, {'connected_gene': 'FSD1L', 'score': 4.54}, {'connected_gene': 'ENSG00000279609', 'score': 0.44}, {'connected_gene': 'GC09M105565', 'score': 0.18}]
chr9 GH09I105519 105519601 105520400 0.5 [{'connected_gene': 'RALGAPA1P1', 'score': 550.77}, {'connected_gene': 'FKTN', 'score': 6.67}, {'connected_gene': 'FSD1L', 'score': 0.18}]
chr9 GH09I105242 105242386 105247081 2.34 [{'connected_gene': 'SLC44A1', 'score': 556.56}, {'connected_gene': 'FKTN', 'score': 20.76}, {'connected_gene': 'RALGAPA1P1', 'score': 15.21}, {'connected_gene': 'FSD1L', 'score': 0.08}]
chr9 GH09I105457 105457314 105459306 1.06 [{'connected_gene': 'FKTN', 'score': 7.08}, {'connected_gene': 'FSD1L', 'score': 0.37}, {'connected_gene': 'RALGAPA1P1', 'score': 0.21}]
chr9 GH09I105445 105445086 105445929 0.51 [{'connected_gene': 'FKTN', 'score': 6.82}, {'connected_gene': 'FSD1L', 'score': 0.77}, {'connected_gene': 'RALGAPA1P1', 'score': 0.19}]
chr9 GH09I105522 105522362 105522508 0.28 [{'connected_gene': 'FKTN', 'score': 6.22}, {'connected_gene': 'RALGAPA1P1', 'score': 0.77}, {'connected_gene': 'FSD1L', 'score': 0.18}]
chr9 GH09I105323 105323115 105325905 0.31 [{'connected_gene': 'FKTN', 'score': 13.97}, {'connected_gene': 'RALGAPA1P1', 'score': 12.91}, {'connected_gene': 'SLC44A1', 'score': 0.18}, {'connected_gene': 'FSD1L', 'score': 0.13}]
chr9 GH09I105067 105067460 105068602 0.63 [{'connected_gene': 'FKTN', 'score': 18.06}, {'connected_gene': 'RALGAPA1P1', 'score': 11.51}, {'connected_gene': 'SMC2-AS1', 'score': 11.21}, {'connected_gene': 'LOC105376197', 'score': 0.34}, {'connected_gene': 'ENSG00000230013', 'score': 0.18}]
chr9 GH09I105063 105063324 105066999 1.75 [{'connected_gene': 'ABCA1', 'score': 20.5}, {'connected_gene': 'RALGAPA1P1', 'score': 14.9}, {'connected_gene': 'FKTN', 'score': 12.99}, {'connected_gene': 'ENSG00000230013', 'score': 6.11}, {'connected_gene': 'NIPSNAP3A', 'score': 1.39}, {'connected_gene': 'FSD1L', 'score': 1.17}, {'connected_gene': 'LOC105376197', 'score': 0.31}]
chr9 GH09I105557 105557401 105559001 1.96 [{'connected_gene': 'LOC105376199', 'score': 550.77}, {'connected_gene': 'FKTN', 'score': 550.77}, {'connected_gene': 'FSD1L', 'score': 7.8}]
chr9 GH09I105559 105559838 105559897 0.5 [{'connected_gene': 'LOC105376199', 'score': 550.77}, {'connected_gene': 'FKTN', 'score': 550.77}, {'connected_gene': 'GC09M105565', 'score': 0.44}]