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
ENST00000354190 [[73357222, 73357671], [73360056, 73360132], [73361597, 73361750], [73362832, 73362935], [73364019, 73364059], [73366847, 73366952], [73371797, 73371897], [73372510, 73373864]] [[73357653, 73357671], [73360056, 73360132], [73361597, 73361750], [73362832, 73362935], [73364019, 73364059], [73366847, 73366952], [73371797, 73371897], [73372510, 73372647]]
ENST00000398492 [[73357222, 73357671], [73360056, 73360132], [73361597, 73361750], [73362832, 73362935], [73364019, 73364059], [73371797, 73371897], [73372510, 73373864]] [[73357653, 73357671], [73360056, 73360132], [73361597, 73361750], [73362832, 73362935], [73364019, 73364059], [73371797, 73371897], [73372510, 73372647]]
ENST00000536527 [[73357623, 73357671], [73358433, 73358574], [73360056, 73360132], [73361597, 73361750], [73362467, 73362482]] [[73360095, 73360132], [73361597, 73361750], [73362467, 73362482]]
ENST00000227214 [[73358593, 73358783], [73360056, 73360132], [73361597, 73361750], [73362832, 73362935], [73364019, 73364059], [73371797, 73371897], [73372510, 73373864]] [[73360095, 73360132], [73361597, 73361750], [73362832, 73362935], [73364019, 73364059], [73371797, 73371897], [73372510, 73372647]]
ENST00000398494 [[73358653, 73358783], [73360056, 73360132], [73361597, 73361750], [73362832, 73362935], [73364019, 73364059], [73366847, 73366952], [73371797, 73371897], [73372510, 73373864]] [[73360095, 73360132], [73361597, 73361750], [73362832, 73362935], [73364019, 73364059], [73366847, 73366952], [73371797, 73371897], [73372510, 73372647]]
ENST00000543085 [[73358670, 73358783], [73360056, 73360132], [73362832, 73362935], [73364019, 73364059], [73371797, 73371897], [73372510, 73372710]] [[73360095, 73360132], [73362832, 73362935], [73364019, 73364059], [73371797, 73371897], [73372510, 73372647]]
ENST00000544532 [[73358697, 73358783], [73360056, 73360132], [73361597, 73361750], [73362465, 73362614], [73362832, 73362924]] None
ENST00000545798 [[73358699, 73358940], [73360056, 73360132], [73361597, 73361750], [73362832, 73362896]] [[73360095, 73360132], [73361597, 73361750], [73362832, 73362896]]
ENST00000539157 [[73358699, 73358783], [73360056, 73360132], [73361576, 73361750], [73362832, 73362935], [73364019, 73364059], [73366847, 73366952], [73371797, 73371801]] [[73360095, 73360132], [73361576, 73361750], [73362832, 73362935], [73364019, 73364059], [73366847, 73366952], [73371797, 73371801]]
ENST00000546251 [[73358699, 73358783], [73360056, 73360132], [73361597, 73361750], [73362832, 73362935], [73364019, 73364059], [73364414, 73364506], [73371797, 73371811]] [[73360095, 73360132], [73361597, 73361750], [73362832, 73362935], [73364019, 73364059], [73364414, 73364506], [73371797, 73371811]]
ENST00000535582 [[73358699, 73358783], [73359230, 73359323], [73360056, 73360132], [73361597, 73361750], [73362832, 73362935], [73364019, 73364059], [73371797, 73371815]] [[73360095, 73360132], [73361597, 73361750], [73362832, 73362935], [73364019, 73364059], [73371797, 73371815]]
ENST00000538227 [[73358699, 73358783], [73360056, 73360132], [73361597, 73361750], [73362832, 73362935], [73364019, 73364059], [73371797, 73371918]] [[73360095, 73360132], [73361597, 73361750], [73362832, 73362935], [73364019, 73364059], [73371797, 73371918]]
ENST00000541760 [[73358733, 73358783], [73360056, 73360132], [73361597, 73361750], [73362832, 73363115]] None
ENST00000543524 [[73358758, 73358911], [73360056, 73360132], [73361597, 73361750], [73362832, 73362935], [73364019, 73364059], [73371797, 73371897], [73372510, 73372541]] [[73360095, 73360132], [73361597, 73361750], [73362832, 73362935], [73364019, 73364059], [73371797, 73371897], [73372510, 73372541]]
ENST00000541597 [[73358976, 73359132], [73360056, 73360132], [73361597, 73361750], [73362832, 73362935], [73364019, 73364059], [73371797, 73371897], [73372510, 73372567]] [[73360095, 73360132], [73361597, 73361750], [73362832, 73362935], [73364019, 73364059], [73371797, 73371897], [73372510, 73372567]]
ENST00000535129 [[73359734, 73360132], [73361597, 73361750], [73362832, 73362935], [73364019, 73364059], [73371797, 73371897], [73372510, 73372765]] [[73360095, 73360132], [73361597, 73361750], [73362832, 73362935], [73364019, 73364059], [73371797, 73371897], [73372510, 73372647]]
ENST00000542389 [[73359958, 73360132], [73361597, 73361750], [73362832, 73362935], [73364019, 73364059], [73366847, 73366952], [73371797, 73371840]] [[73360095, 73360132], [73361597, 73361750], [73362832, 73362935], [73364019, 73364059], [73366847, 73366952], [73371797, 73371840]]
ENST00000540431 [[73360056, 73360132], [73361576, 73361750], [73362832, 73362935], [73364019, 73364059], [73371797, 73371897], [73372510, 73372596]] [[73360095, 73360132], [73361576, 73361750], [73362832, 73362935], [73364019, 73364059], [73371797, 73371897], [73372510, 73372596]]
ENST00000426191 [[73363484, 73364059], [73371797, 73371897], [73372510, 73373857]] None
ENST00000540157 [[73363664, 73364059], [73371797, 73371970]] None
ENST00000545106 [[73371353, 73371897], [73372510, 73372779]] None
ENST00000544282 [[73373397, 73373467], [73373555, 73373860]] None
NM_001130033 [[73357222, 73357671], [73360056, 73360132], [73361597, 73361750], [73362832, 73362935], [73364019, 73364059], [73371797, 73371897], [73372510, 73373864]] [[73357653, 73357671], [73360056, 73360132], [73361597, 73361750], [73362832, 73362935], [73364019, 73364059], [73371797, 73371897], [73372510, 73372647]]
NM_021200 [[73357222, 73357671], [73360056, 73360132], [73361597, 73361750], [73362832, 73362935], [73364019, 73364059], [73366847, 73366952], [73371797, 73371897], [73372510, 73373864]] [[73357653, 73357671], [73360056, 73360132], [73361597, 73361750], [73362832, 73362935], [73364019, 73364059], [73366847, 73366952], [73371797, 73371897], [73372510, 73372647]]
NM_001130035 [[73358593, 73358783], [73360056, 73360132], [73361597, 73361750], [73362832, 73362935], [73364019, 73364059], [73371797, 73371897], [73372510, 73373864]] [[73360095, 73360132], [73361597, 73361750], [73362832, 73362935], [73364019, 73364059], [73371797, 73371897], [73372510, 73372647]]
NM_001130034 [[73358593, 73358783], [73360056, 73360132], [73361597, 73361750], [73362832, 73362935], [73364019, 73364059], [73366847, 73366952], [73371797, 73371897], [73372510, 73373864]] [[73360095, 73360132], [73361597, 73361750], [73362832, 73362935], [73364019, 73364059], [73366847, 73366952], [73371797, 73371897], [73372510, 73372647]]
NM_001130036 [[73359734, 73360132], [73361597, 73361750], [73362832, 73362935], [73364019, 73364059], [73371797, 73371897], [73372510, 73373864]] [[73360095, 73360132], [73361597, 73361750], [73362832, 73362935], [73364019, 73364059], [73371797, 73371897], [73372510, 73372647]]
Promoter
Chrom Start End Description
chr11 73357603 73357612 CAGE_peak_12_at_PLEKHB1_5end
chr11 73357614 73357632 CAGE_peak_5_at_PLEKHB1_5end
chr11 73358663 73358687 CAGE_peak_2_at_PLEKHB1_5end
chr11 73358690 73358736 CAGE_peak_1_at_PLEKHB1_5end
chr11 73359719 73359759 CAGE_peak_8_at_PLEKHB1_5end
chr11 73359836 73359853 CAGE_peak_6_at_PLEKHB1_5end
chr11 73359936 73359979 CAGE_peak_3_at_PLEKHB1_5end
chr11 73359985 73360017 CAGE_peak_4_at_PLEKHB1_5end
chr11 73360024 73360039 CAGE_peak_7_at_PLEKHB1_5end
chr11 73363887 73363920 CAGE_peak_13_at_PLEKHB1_5end
chr11 73373208 73373220 CAGE_peak_9_at_PLEKHB1_5end
chr11 73373268 73373281 CAGE_peak_10_at_PLEKHB1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I073537 73537202 73539237 0.77 [{'connected_gene': 'ARHGEF17', 'score': 19.05}, {'connected_gene': 'FAM168A', 'score': 17.95}, {'connected_gene': 'RELT', 'score': 15.41}, {'connected_gene': 'PLEKHB1', 'score': 11.51}, {'connected_gene': 'ENSG00000256448', 'score': 11.19}, {'connected_gene': 'MRPL48', 'score': 9.63}, {'connected_gene': 'ENSG00000255928', 'score': 9.53}, {'connected_gene': 'GC11M073518', 'score': 0.34}, {'connected_gene': 'HMGN2P38', 'score': 0.26}]
chr11 GH11I073437 73437109 73437423 0.22 [{'connected_gene': 'RELT', 'score': 12.29}, {'connected_gene': 'ENSG00000256448', 'score': 12.16}, {'connected_gene': 'PLEKHB1', 'score': 11.28}, {'connected_gene': 'ARHGEF17', 'score': 10.77}, {'connected_gene': 'FAM168A', 'score': 10.2}, {'connected_gene': 'ENSG00000255928', 'score': 9.68}, {'connected_gene': 'ENSG00000255786', 'score': 0.39}, {'connected_gene': 'PIR52508', 'score': 0.39}]
chr11 GH11I073872 73872018 73877890 2.06 [{'connected_gene': 'PAAF1', 'score': 550.77}, {'connected_gene': 'COA4', 'score': 550.77}, {'connected_gene': 'MRPL48', 'score': 23.76}, {'connected_gene': 'POLD3', 'score': 21.51}, {'connected_gene': 'RNF169', 'score': 10.53}, {'connected_gene': 'PLEKHB1', 'score': 10.11}, {'connected_gene': 'FAM168A', 'score': 6.48}, {'connected_gene': 'CCDC58P5', 'score': 0.34}]
chr11 GH11I073757 73757396 73762012 2.07 [{'connected_gene': 'RAB6A', 'score': 550.77}, {'connected_gene': 'ENSG00000256034', 'score': 550.77}, {'connected_gene': 'MRPL48', 'score': 30.45}, {'connected_gene': 'POLD3', 'score': 18.01}, {'connected_gene': 'ENSG00000206913', 'score': 13.5}, {'connected_gene': 'ENSG00000255928', 'score': 10.51}, {'connected_gene': 'PAAF1', 'score': 10.38}, {'connected_gene': 'COA4', 'score': 10.38}, {'connected_gene': 'RNF169', 'score': 9.85}, {'connected_gene': 'PLEKHB1', 'score': 9.17}, {'connected_gene': 'GC11P073724', 'score': 0.28}]
chr11 GH11I073645 73645201 73649017 2.31 [{'connected_gene': 'PLEKHB1', 'score': 565.52}, {'connected_gene': 'MRPL48', 'score': 14.07}, {'connected_gene': 'PPME1', 'score': 5.39}, {'connected_gene': 'FAM168A', 'score': 4.9}, {'connected_gene': 'P4HA3', 'score': 4.2}, {'connected_gene': 'GC11M073664', 'score': 0.37}]
chr11 GH11I073635 73635089 73636013 0.2 [{'connected_gene': 'PLEKHB1', 'score': 13.25}, {'connected_gene': 'MRPL48', 'score': 12.52}, {'connected_gene': 'FAM168A', 'score': 5.04}, {'connected_gene': 'LOC100419713', 'score': 0.77}]
chr11 GH11I073542 73542201 73542800 0.38 [{'connected_gene': 'PLEKHB1', 'score': 11.51}, {'connected_gene': 'FAM168A', 'score': 11.15}, {'connected_gene': 'RELT', 'score': 10.06}, {'connected_gene': 'ARHGEF17', 'score': 10.02}, {'connected_gene': 'MRPL48', 'score': 9.63}, {'connected_gene': 'GC11M073518', 'score': 0.34}, {'connected_gene': 'HMGN2P38', 'score': 0.28}]
chr11 GH11I073649 73649396 73649545 0.4 [{'connected_gene': 'PLEKHB1', 'score': 13.54}, {'connected_gene': 'GC11M073664', 'score': 0.37}]
chr11 GH11I073657 73657314 73658756 0.38 [{'connected_gene': 'MRPL48', 'score': 11.85}, {'connected_gene': 'ENSG00000256448', 'score': 11.74}, {'connected_gene': 'RELT', 'score': 11.09}, {'connected_gene': 'ARHGEF17', 'score': 11.08}, {'connected_gene': 'ENSG00000255928', 'score': 10.8}, {'connected_gene': 'PAAF1', 'score': 10.17}, {'connected_gene': 'COA4', 'score': 10.17}, {'connected_gene': 'PLEKHB1', 'score': 7.69}, {'connected_gene': 'GC11M073664', 'score': 0.44}]
chr11 GH11I073818 73818313 73819343 0.31 [{'connected_gene': 'MRPL48', 'score': 28.27}, {'connected_gene': 'PAAF1', 'score': 10.51}, {'connected_gene': 'COA4', 'score': 10.51}, {'connected_gene': 'FAM168A', 'score': 9.7}, {'connected_gene': 'PLEKHB1', 'score': 5.24}, {'connected_gene': 'GC11M073833', 'score': 0.39}, {'connected_gene': 'RN7SKP243', 'score': 0.39}]
chr11 GH11I073866 73866051 73870887 0.93 [{'connected_gene': 'MRPL48', 'score': 22.91}, {'connected_gene': 'RAB6A', 'score': 14.49}, {'connected_gene': 'ENSG00000256034', 'score': 10.45}, {'connected_gene': 'ENSG00000255928', 'score': 9.72}, {'connected_gene': 'PLEKHB1', 'score': 9.22}, {'connected_gene': 'PAAF1', 'score': 0.44}, {'connected_gene': 'CCDC58P5', 'score': 0.37}]
chr11 GH11I073838 73838120 73839145 0.43 [{'connected_gene': 'MRPL48', 'score': 18.16}, {'connected_gene': 'RAB6A', 'score': 8.19}, {'connected_gene': 'PLEKHB1', 'score': 1.48}, {'connected_gene': 'GC11M073833', 'score': 0.44}, {'connected_gene': 'RN7SKP243', 'score': 0.44}, {'connected_gene': 'CCDC58P5', 'score': 0.39}]
chr11 GH11I073752 73752110 73754795 0.74 [{'connected_gene': 'MRPL48', 'score': 23.39}, {'connected_gene': 'ENSG00000255928', 'score': 11.89}, {'connected_gene': 'PLEKHB1', 'score': 7.87}, {'connected_gene': 'RAB6A', 'score': 0.44}, {'connected_gene': 'ENSG00000256034', 'score': 0.44}, {'connected_gene': 'GC11P073724', 'score': 0.31}]
chr11 GH11I073749 73749404 73751796 0.77 [{'connected_gene': 'MRPL48', 'score': 28.43}, {'connected_gene': 'ENSG00000255928', 'score': 11.91}, {'connected_gene': 'PLEKHB1', 'score': 10.3}, {'connected_gene': 'RAB6A', 'score': 8.45}, {'connected_gene': 'ENSG00000256034', 'score': 0.44}, {'connected_gene': 'GC11P073724', 'score': 0.31}]
chr11 GH11I073840 73840096 73840472 0.22 [{'connected_gene': 'MRPL48', 'score': 16.42}, {'connected_gene': 'PLEKHB1', 'score': 6.57}, {'connected_gene': 'GC11M073833', 'score': 0.44}, {'connected_gene': 'RN7SKP243', 'score': 0.44}, {'connected_gene': 'CCDC58P5', 'score': 0.39}]
chr11 GH11I073911 73911135 73912852 0.31 [{'connected_gene': 'MRPL48', 'score': 20.73}, {'connected_gene': 'DNAJB13', 'score': 11.74}, {'connected_gene': 'PAAF1', 'score': 11.5}, {'connected_gene': 'COA4', 'score': 11.5}, {'connected_gene': 'RAB6A', 'score': 10.34}, {'connected_gene': 'ENSG00000256034', 'score': 10.34}, {'connected_gene': 'ENSG00000255928', 'score': 10.06}, {'connected_gene': 'PLEKHB1', 'score': 8.09}, {'connected_gene': 'PIR59200', 'score': 0.39}, {'connected_gene': 'ARPC3P4', 'score': 0.39}, {'connected_gene': 'GC11P073901', 'score': 0.39}]
chr11 GH11I073786 73786738 73789983 2.14 [{'connected_gene': 'MRPL48', 'score': 568.12}, {'connected_gene': 'POLD3', 'score': 58.83}, {'connected_gene': 'ENSG00000206913', 'score': 43.22}, {'connected_gene': 'RNF169', 'score': 29.89}, {'connected_gene': 'ARPC3P4', 'score': 25.4}, {'connected_gene': 'RAB6A', 'score': 22.67}, {'connected_gene': 'C2CD3', 'score': 20.55}, {'connected_gene': 'P4HA3', 'score': 12.73}, {'connected_gene': 'ENSG00000256034', 'score': 11.57}, {'connected_gene': 'ENSG00000254837', 'score': 10.7}, {'connected_gene': 'PLEKHB1', 'score': 8.09}, {'connected_gene': 'GC11M073833', 'score': 0.26}, {'connected_gene': 'RN7SKP243', 'score': 0.26}]
chr11 GH11I073999 73999072 74003319 0.54 [{'connected_gene': 'P4HA3', 'score': 15.77}, {'connected_gene': 'PPME1', 'score': 12.4}, {'connected_gene': 'ENSG00000255847', 'score': 11.28}, {'connected_gene': 'MRPL48', 'score': 6.84}, {'connected_gene': 'PLEKHB1', 'score': 4.84}, {'connected_gene': 'UCP3', 'score': 0.44}, {'connected_gene': 'LOC100421622', 'score': 0.44}]
chr11 GH11I073510 73510476 73511000 0.89 [{'connected_gene': 'ENSG00000256148', 'score': 550.77}, {'connected_gene': 'ARHGEF17', 'score': 23.53}, {'connected_gene': 'RELT', 'score': 14.1}, {'connected_gene': 'FAM168A', 'score': 12.84}, {'connected_gene': 'ENSG00000255928', 'score': 9.52}, {'connected_gene': 'PLEKHB1', 'score': 1.47}, {'connected_gene': 'GC11M073518', 'score': 0.44}]
chr11 GH11I073661 73660076 73660225 0.8 [{'connected_gene': 'ENSG00000256448', 'score': 11.74}, {'connected_gene': 'RELT', 'score': 11.09}, {'connected_gene': 'ARHGEF17', 'score': 11.08}, {'connected_gene': 'ENSG00000255928', 'score': 10.8}, {'connected_gene': 'PAAF1', 'score': 10.17}, {'connected_gene': 'COA4', 'score': 10.17}, {'connected_gene': 'GC11M073664', 'score': 0.77}, {'connected_gene': 'PLEKHB1', 'score': 0.39}]
chr11 GH11I073651 73651763 73653130 1.03 [{'connected_gene': 'ENSG00000256928', 'score': 11.53}, {'connected_gene': 'RELT', 'score': 11.53}, {'connected_gene': 'ARHGEF17', 'score': 10.96}, {'connected_gene': 'FAM168A', 'score': 10.94}, {'connected_gene': 'MRPL48', 'score': 6.56}, {'connected_gene': 'PLEKHB1', 'score': 0.44}, {'connected_gene': 'GC11M073664', 'score': 0.39}]
chr11 GH11I073664 73664001 73664400 0.4 [{'connected_gene': 'GC11M073664', 'score': 550.77}, {'connected_gene': 'MRPL48', 'score': 12.29}, {'connected_gene': 'RELT', 'score': 11.17}, {'connected_gene': 'ARHGEF17', 'score': 11.16}, {'connected_gene': 'ENSG00000255928', 'score': 10.95}, {'connected_gene': 'FAM168A', 'score': 10.46}, {'connected_gene': 'PLEKHB1', 'score': 7.86}]
chr11 GH11I073660 73660411 73661985 1.28 [{'connected_gene': 'ENSG00000206913', 'score': 14.23}, {'connected_gene': 'POLD3', 'score': 12.46}, {'connected_gene': 'MRPL48', 'score': 12.25}, {'connected_gene': 'ENSG00000256448', 'score': 11.74}, {'connected_gene': 'RELT', 'score': 11.09}, {'connected_gene': 'ARHGEF17', 'score': 11.08}, {'connected_gene': 'ENSG00000255928', 'score': 10.8}, {'connected_gene': 'PAAF1', 'score': 10.17}, {'connected_gene': 'COA4', 'score': 10.17}, {'connected_gene': 'PLEKHB1', 'score': 7.66}, {'connected_gene': 'GC11M073664', 'score': 0.77}]

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