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
ENST00000375664 [[28821421, 28821936], [28822926, 28822963], [28824490, 28824686], [28872327, 28872434], [28878664, 28878780], [28879648, 28879761], [28884661, 28884970], [28897114, 28897360], [28899627, 28899750], [28900702, 28900851], [28903495, 28903614], [28905101, 28905291], [28906585, 28906713], [28908465, 28912041]] [[28824547, 28824686], [28872327, 28872434], [28878664, 28878780], [28879648, 28879761], [28884661, 28884970], [28897114, 28897360], [28899627, 28899750], [28900702, 28900851], [28903495, 28903614], [28905101, 28905291], [28906585, 28906713], [28908465, 28908535]]
ENST00000375646 [[28821712, 28821936], [28822926, 28822963], [28824490, 28824686], [28872327, 28872434], [28878664, 28878780], [28879648, 28879761], [28897114, 28897360], [28899639, 28899750], [28900702, 28900851], [28903495, 28903614], [28905101, 28905291], [28906585, 28906713], [28908465, 28908905]] [[28824547, 28824686], [28872327, 28872434], [28878664, 28878780], [28879648, 28879761], [28897114, 28897360], [28899639, 28899750], [28900702, 28900851], [28903495, 28903614], [28905101, 28905291], [28906585, 28906713], [28908465, 28908535]]
ENST00000347934 [[28822241, 28822549], [28822926, 28822963], [28824490, 28824686], [28872327, 28872434], [28878664, 28878780], [28879648, 28879761], [28897114, 28897360], [28899627, 28899750], [28900702, 28900851], [28903495, 28903614], [28905101, 28905291], [28906585, 28906713], [28908465, 28909472]] [[28822508, 28822549], [28822926, 28822963], [28824490, 28824686], [28872327, 28872434], [28878664, 28878780], [28879648, 28879761], [28897114, 28897360], [28899627, 28899750], [28900702, 28900851], [28903495, 28903614], [28905101, 28905291], [28906585, 28906713], [28908465, 28908535]]
ENST00000354911 [[28822347, 28822549], [28822926, 28822963], [28824490, 28824686], [28872327, 28872434], [28878664, 28878780], [28879648, 28879761], [28884661, 28884970], [28897114, 28897360], [28899627, 28899750], [28900702, 28900851], [28903495, 28903614], [28905101, 28905291], [28906585, 28906713], [28908465, 28909472]] [[28822508, 28822549], [28822926, 28822963], [28824490, 28824686], [28872327, 28872434], [28878664, 28878780], [28879648, 28879761], [28884661, 28884970], [28897114, 28897360], [28899627, 28899750], [28900702, 28900851], [28903495, 28903614], [28905101, 28905291], [28906585, 28906713], [28908465, 28908535]]
ENST00000428935 [[28822423, 28822549], [28822926, 28822963], [28824490, 28824686], [28872327, 28872434], [28878664, 28878780], [28879648, 28879761], [28884661, 28884970], [28897114, 28897360], [28899627, 28899750], [28900183, 28900341]] [[28824547, 28824686], [28872327, 28872434], [28878664, 28878780], [28879648, 28879761], [28884661, 28884970], [28897114, 28897360], [28899627, 28899750], [28900183, 28900341]]
ENST00000420266 [[28822434, 28822511], [28822926, 28822963], [28824490, 28824686], [28872327, 28872434], [28878664, 28878780], [28879648, 28879761], [28884661, 28884799]] [[28824547, 28824686], [28872327, 28872434], [28878664, 28878780], [28879648, 28879761], [28884661, 28884799]]
ENST00000424454 [[28822468, 28822549], [28822926, 28822963], [28823162, 28823275], [28824490, 28824686], [28872327, 28872434], [28878664, 28878780], [28879648, 28879761], [28884661, 28884970], [28897114, 28897360], [28899627, 28899639]] [[28822508, 28822549], [28822926, 28822963], [28823162, 28823189]]
ENST00000442148 [[28822677, 28822822], [28822926, 28822963], [28824490, 28824686], [28872327, 28872434], [28878664, 28878780], [28879648, 28879761], [28884661, 28884706]] [[28824547, 28824686], [28872327, 28872434], [28878664, 28878780], [28879648, 28879761], [28884661, 28884706]]
ENST00000448193 [[28822691, 28822963], [28824490, 28824686], [28872327, 28872365]] [[28824547, 28824686], [28872327, 28872365]]
ENST00000414108 [[28823051, 28823111], [28824490, 28824686], [28872327, 28872434], [28878664, 28878780], [28879648, 28879761], [28884661, 28884885]] [[28824547, 28824686], [28872327, 28872434], [28878664, 28878780], [28879648, 28879761], [28884661, 28884885]]
ENST00000439676 [[28824194, 28824686], [28872327, 28872434], [28878664, 28878780], [28879648, 28879761], [28884661, 28884970], [28897114, 28897360], [28899627, 28899750], [28900183, 28900410], [28900702, 28900851], [28903495, 28903614], [28905101, 28905291], [28906585, 28906713], [28908465, 28908908]] [[28824547, 28824686], [28872327, 28872434], [28878664, 28878780], [28879648, 28879761], [28884661, 28884970], [28897114, 28897360], [28899627, 28899750], [28900183, 28900341]]
ENST00000345541 [[28824614, 28824686], [28872327, 28872434], [28878664, 28878780], [28879648, 28879761], [28884661, 28884970], [28897114, 28897360], [28899636, 28900851], [28903495, 28905291], [28906585, 28906713], [28908465, 28908889]] None
ENST00000526722 [[28821701, 28821936], [28822926, 28823111], [28824490, 28824655]] [[28824547, 28824655]]
ENST00000528491 [[28821704, 28821936], [28822926, 28822963], [28824490, 28824686], [28824847, 28824889]] None
ENST00000532233 [[28821707, 28821936], [28822926, 28822963], [28824490, 28824686], [28826512, 28826593]] None
ENST00000530865 [[28822525, 28822549], [28822926, 28822963], [28824490, 28824897]] None
ENST00000472862 [[28877665, 28878780], [28879648, 28880762]] None
ENST00000476046 [[28884855, 28884970], [28897114, 28897522]] None
ENST00000495268 [[28897274, 28897360], [28899627, 28899750], [28900183, 28900520]] None
ENST00000480474 [[28903927, 28905291], [28906585, 28906970]] None
NM_100264 [[28821516, 28821936], [28822926, 28822963], [28824490, 28824686], [28872327, 28872434], [28878664, 28878780], [28879648, 28879761], [28884661, 28884970], [28897114, 28897360], [28899627, 28899750], [28900702, 28900851], [28903495, 28903614], [28905101, 28905291], [28906585, 28906713], [28908465, 28912041]] [[28824547, 28824686], [28872327, 28872434], [28878664, 28878780], [28879648, 28879761], [28884661, 28884970], [28897114, 28897360], [28899627, 28899750], [28900702, 28900851], [28903495, 28903614], [28905101, 28905291], [28906585, 28906713], [28908465, 28908535]]
NM_100486 [[28822420, 28822549], [28822926, 28822963], [28824490, 28824686], [28872327, 28872434], [28878664, 28878780], [28879648, 28879761], [28897114, 28897360], [28899627, 28899750], [28900702, 28900851], [28903495, 28903614], [28905101, 28905291], [28906585, 28906713], [28908465, 28912041]] [[28822508, 28822549], [28822926, 28822963], [28824490, 28824686], [28872327, 28872434], [28878664, 28878780], [28879648, 28879761], [28897114, 28897360], [28899627, 28899750], [28900702, 28900851], [28903495, 28903614], [28905101, 28905291], [28906585, 28906713], [28908465, 28908535]]
NM_016628 [[28822420, 28822549], [28822926, 28822963], [28824490, 28824686], [28872327, 28872434], [28878664, 28878780], [28879648, 28879761], [28884661, 28884970], [28897114, 28897360], [28899627, 28899750], [28900702, 28900851], [28903495, 28903614], [28905101, 28905291], [28906585, 28906713], [28908465, 28912041]] [[28822508, 28822549], [28822926, 28822963], [28824490, 28824686], [28872327, 28872434], [28878664, 28878780], [28879648, 28879761], [28884661, 28884970], [28897114, 28897360], [28899627, 28899750], [28900702, 28900851], [28903495, 28903614], [28905101, 28905291], [28906585, 28906713], [28908465, 28908535]]
Promoter
Chrom Start End Description
chr10 28821674 28821715 CAGE_peak_2_at_WAC_5end
chr10 28821724 28821742 CAGE_peak_3_at_WAC_5end
chr10 28822025 28822036 CAGE_peak_6_at_WAC_5end
chr10 28822037 28822082 CAGE_peak_1_at_WAC_5end
chr10 28822202 28822234 CAGE_peak_7_at_WAC_5end
chr10 28822236 28822292 CAGE_peak_4_at_WAC_5end
chr10 28822417 28822441 CAGE_peak_11_at_WAC_5end
chr10 28822636 28822657 CAGE_peak_8_at_WAC_5end
chr10 28824063 28824067 CAGE_peak_10_at_WAC_5end
chr10 28824473 28824484 CAGE_peak_20_at_WAC_5end
chr10 28824487 28824507 CAGE_peak_22_at_WAC_5end
chr10 28824634 28824652 CAGE_peak_17_at_WAC_5end
chr10 28878705 28878720 CAGE_peak_5_at_WAC_5end
chr10 28884801 28884825 CAGE_peak_15_at_WAC_5end
chr10 28884887 28884922 CAGE_peak_12_at_WAC_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I028432 28432002 28432663 0.94 [{'connected_gene': 'WAC', 'score': 11.43}, {'connected_gene': 'WAC-AS1', 'score': 11.43}, {'connected_gene': 'RPSAP10', 'score': 0.77}, {'connected_gene': 'ENSG00000222666', 'score': 0.34}]
chr10 GH10I028458 28458972 28460074 0.2 [{'connected_gene': 'WAC', 'score': 6.19}, {'connected_gene': 'WAC-AS1', 'score': 4.95}, {'connected_gene': 'RN7SKP39', 'score': 0.37}, {'connected_gene': 'LOC105376468', 'score': 0.28}]
chr10 GH10I028535 28535592 28535741 0.38 [{'connected_gene': 'WAC', 'score': 0.77}, {'connected_gene': 'WAC-AS1', 'score': 0.77}, {'connected_gene': 'PIR60646', 'score': 0.18}]
chr10 GH10I028569 28569932 28570041 0.94 [{'connected_gene': 'WAC', 'score': 9.17}, {'connected_gene': 'WAC-AS1', 'score': 0.28}, {'connected_gene': 'PIR60646', 'score': 0.25}]
chr10 GH10I028541 28541537 28543130 0.46 [{'connected_gene': 'WAC', 'score': 9.15}, {'connected_gene': 'WAC-AS1', 'score': 0.44}, {'connected_gene': 'PIR60646', 'score': 0.18}]
chr10 GH10I028478 28478794 28480040 0.92 [{'connected_gene': 'WAC', 'score': 5.39}, {'connected_gene': 'LOC105376468', 'score': 0.37}, {'connected_gene': 'RN7SKP39', 'score': 0.28}]
chr10 GH10I028675 28675661 28682961 2.07 [{'connected_gene': 'BAMBI', 'score': 558.21}, {'connected_gene': 'WAC-AS1', 'score': 19.26}, {'connected_gene': 'RNU6-270P', 'score': 10.65}, {'connected_gene': 'LYZL1', 'score': 9.77}, {'connected_gene': 'WAC', 'score': 5.03}, {'connected_gene': 'LOC105376470', 'score': 0.31}]
chr10 GH10I028531 28531208 28535204 2.27 [{'connected_gene': 'WAC-AS1', 'score': 595.79}, {'connected_gene': 'WAC', 'score': 559.49}, {'connected_gene': 'BAMBI', 'score': 5.42}, {'connected_gene': 'PIR60646', 'score': 0.17}]
chr10 GH10I028491 28491401 28493306 0.51 [{'connected_gene': 'WAC-AS1', 'score': 39.33}, {'connected_gene': 'WAC', 'score': 6.82}, {'connected_gene': 'LOC105376468', 'score': 0.77}, {'connected_gene': 'RN7SKP39', 'score': 0.25}]
chr10 GH10I028499 28499482 28500862 0.54 [{'connected_gene': 'WAC-AS1', 'score': 35.2}, {'connected_gene': 'WAC', 'score': 12.04}, {'connected_gene': 'LOC105376468', 'score': 0.77}, {'connected_gene': 'GC10P028507', 'score': 0.44}]
chr10 GH10I028503 28503232 28503381 0.69 [{'connected_gene': 'WAC-AS1', 'score': 52.85}, {'connected_gene': 'WAC', 'score': 12.06}, {'connected_gene': 'GC10P028507', 'score': 0.77}, {'connected_gene': 'LOC105376468', 'score': 0.44}]
chr10 GH10I028502 28502106 28502946 0.86 [{'connected_gene': 'WAC-AS1', 'score': 54.22}, {'connected_gene': 'WAC', 'score': 12.06}, {'connected_gene': 'GC10P028507', 'score': 0.77}, {'connected_gene': 'LOC105376468', 'score': 0.44}]
chr10 GH10I028545 28545272 28546628 0.43 [{'connected_gene': 'WAC-AS1', 'score': 40.64}, {'connected_gene': 'WAC', 'score': 0.39}, {'connected_gene': 'PIR60646', 'score': 0.19}]
chr10 GH10I028563 28563870 28565606 0.52 [{'connected_gene': 'WAC-AS1', 'score': 53.92}, {'connected_gene': 'WAC', 'score': 11.79}, {'connected_gene': 'PIR60646', 'score': 0.22}]
chr10 GH10I028577 28577496 28578950 0.49 [{'connected_gene': 'WAC-AS1', 'score': 18.8}, {'connected_gene': 'WAC', 'score': 9.14}, {'connected_gene': 'PIR60646', 'score': 0.26}]
chr10 GH10I028584 28584918 28586454 0.38 [{'connected_gene': 'WAC-AS1', 'score': 40.21}, {'connected_gene': 'PIR60646', 'score': 0.29}, {'connected_gene': 'WAC', 'score': 0.23}]
chr10 GH10I028601 28601463 28602955 0.31 [{'connected_gene': 'WAC-AS1', 'score': 5.62}, {'connected_gene': 'PIR60646', 'score': 0.37}, {'connected_gene': 'WAC', 'score': 0.2}]
chr10 GH10I028553 28553510 28555965 0.52 [{'connected_gene': 'WAC-AS1', 'score': 39.75}, {'connected_gene': 'WAC', 'score': 9.38}, {'connected_gene': 'PIR60646', 'score': 0.2}]
chr10 GH10I028592 28592572 28593432 1.02 [{'connected_gene': 'WAC-AS1', 'score': 51.42}, {'connected_gene': 'WAC', 'score': 11.01}, {'connected_gene': 'PIR60646', 'score': 0.31}]
chr10 GH10I028614 28614806 28615911 0.31 [{'connected_gene': 'WAC-AS1', 'score': 16.94}, {'connected_gene': 'PIR60646', 'score': 0.77}, {'connected_gene': 'WAC', 'score': 0.18}]
chr10 GH10I028579 28579506 28581581 0.43 [{'connected_gene': 'WAC-AS1', 'score': 51.35}, {'connected_gene': 'WAC', 'score': 20.08}, {'connected_gene': 'PIR60646', 'score': 0.28}]
chr10 GH10I028558 28558755 28560559 0.99 [{'connected_gene': 'WAC-AS1', 'score': 51.8}, {'connected_gene': 'WAC', 'score': 11.81}, {'connected_gene': 'PIR60646', 'score': 0.21}]
chr10 GH10I028604 28604746 28607465 0.31 [{'connected_gene': 'WAC-AS1', 'score': 19.39}, {'connected_gene': 'WAC', 'score': 6.14}, {'connected_gene': 'PIR60646', 'score': 0.39}]
chr10 GH10I028529 28529555 28530858 0.43 [{'connected_gene': 'WAC-AS1', 'score': 25.53}, {'connected_gene': 'WAC', 'score': 9.85}, {'connected_gene': 'GC10M028522', 'score': 0.44}]
chr10 GH10I028550 28550052 28551818 0.54 [{'connected_gene': 'WAC-AS1', 'score': 17.23}, {'connected_gene': 'WAC', 'score': 0.37}, {'connected_gene': 'PIR60646', 'score': 0.2}]
chr10 GH10I028330 28330206 28335881 1.56 [{'connected_gene': 'MPP7', 'score': 564.65}, {'connected_gene': 'WAC', 'score': 2.01}, {'connected_gene': 'LOC105376467', 'score': 0.77}, {'connected_gene': 'LOC105376466', 'score': 0.31}]
chr10 GH10I028364 28364737 28369905 1.29 [{'connected_gene': 'MPP7', 'score': 24.46}, {'connected_gene': 'MKX-AS1', 'score': 10.23}, {'connected_gene': 'MKX', 'score': 10.23}, {'connected_gene': 'WAC', 'score': 1.4}, {'connected_gene': 'ZNF101P1', 'score': 0.31}, {'connected_gene': 'ENSG00000222666', 'score': 0.26}]
chr10 GH10I028496 28496062 28497034 0.86 [{'connected_gene': 'LOC105376468', 'score': 550.77}, {'connected_gene': 'WAC-AS1', 'score': 35.66}, {'connected_gene': 'WAC', 'score': 8.13}, {'connected_gene': 'GC10P028507', 'score': 0.39}]
chr10 GH10I028581 28581601 28583146 0.31 [{'connected_gene': 'PIR60646', 'score': 0.28}, {'connected_gene': 'WAC', 'score': 0.25}, {'connected_gene': 'WAC-AS1', 'score': 0.25}]
chr10 GH10I028587 28587199 28588395 1.04 [{'connected_gene': 'PIR60646', 'score': 0.29}, {'connected_gene': 'WAC', 'score': 0.22}, {'connected_gene': 'WAC-AS1', 'score': 0.22}]
chr10 GH10I028594 28594532 28594661 0.4 [{'connected_gene': 'PIR60646', 'score': 0.31}, {'connected_gene': 'WAC', 'score': 0.21}, {'connected_gene': 'WAC-AS1', 'score': 0.21}]
chr10 GH10I028617 28617691 28621907 0.49 [{'connected_gene': 'PIR60646', 'score': 550.77}, {'connected_gene': 'WAC-AS1', 'score': 40.15}, {'connected_gene': 'WAC', 'score': 8.89}]