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
ENST00000446828 [[185000740, 185000815], [185003304, 185003431], [185161232, 185161424], [185165576, 185165735], [185167687, 185167846], [185169074, 185169183], [185181337, 185181447], [185183534, 185183651], [185184613, 185184751], [185190762, 185191549], [185195113, 185195184], [185198019, 185198317], [185200142, 185200537]] [[185003393, 185003431], [185161232, 185161424], [185165576, 185165735], [185167687, 185167846], [185169074, 185169183], [185181337, 185181447], [185183534, 185183651], [185184613, 185184751], [185190762, 185191549], [185195113, 185195184], [185198019, 185198317], [185200142, 185200244]]
ENST00000447637 [[185000748, 185000815], [185003304, 185003431], [185146284, 185146708]] [[185146369, 185146708]]
ENST00000424227 [[185000764, 185000815], [185003312, 185003431], [185146284, 185146844], [185155234, 185155418], [185161232, 185161424], [185165576, 185165735], [185167687, 185167846], [185169074, 185169183], [185181337, 185181447], [185183534, 185183651], [185184613, 185184751], [185190762, 185191549], [185195113, 185195184], [185198019, 185198317], [185200142, 185200244]] [[185146369, 185146844], [185155234, 185155418], [185161232, 185161424], [185165576, 185165735], [185167687, 185167846], [185169074, 185169183], [185181337, 185181447], [185183534, 185183651], [185184613, 185184751], [185190762, 185191549], [185195113, 185195184], [185198019, 185198317], [185200142, 185200244]]
ENST00000428617 [[185046675, 185046750], [185146284, 185146782]] [[185146369, 185146782]]
ENST00000433092 [[185046682, 185046750], [185146284, 185146734], [185155234, 185155418], [185161232, 185161424], [185165576, 185165735], [185167687, 185167846], [185169074, 185169322]] [[185146369, 185146734], [185155234, 185155256]]
ENST00000443863 [[185046682, 185046750], [185046861, 185047037], [185155234, 185155418], [185161232, 185161424], [185165576, 185165735], [185167687, 185167846], [185169074, 185169183], [185181337, 185181447], [185183534, 185183651], [185184613, 185184751], [185190762, 185191549], [185195113, 185195184], [185198019, 185198317], [185200142, 185200599]] [[185046994, 185047037], [185155234, 185155418], [185161232, 185161424], [185165576, 185165735], [185167687, 185167846], [185169074, 185169183], [185181337, 185181447], [185183534, 185183651], [185184613, 185184751], [185190762, 185191549], [185195113, 185195184], [185198019, 185198317], [185200142, 185200244]]
ENST00000535426 [[185046994, 185047037], [185155234, 185155418], [185161232, 185161424], [185165576, 185165735], [185167687, 185167846], [185169074, 185169183], [185181337, 185181447], [185183534, 185183651], [185184613, 185184751], [185190762, 185191549], [185195113, 185195184], [185198019, 185198317], [185200142, 185200599]] [[185046994, 185047037], [185155234, 185155418], [185161232, 185161424], [185165576, 185165735], [185167687, 185167846], [185169074, 185169183], [185181337, 185181447], [185183534, 185183651], [185184613, 185184751], [185190762, 185191549], [185195113, 185195184], [185198019, 185198317], [185200142, 185200244]]
ENST00000265026 [[185080907, 185081156], [185146284, 185146844], [185155234, 185155418], [185161232, 185161424], [185165576, 185165735], [185167687, 185167846], [185169074, 185169183], [185181337, 185181447], [185183534, 185183651], [185184613, 185184751], [185190762, 185191549], [185195113, 185195184], [185198019, 185198317], [185200142, 185206885]] [[185146369, 185146844], [185155234, 185155418], [185161232, 185161424], [185165576, 185165735], [185167687, 185167846], [185169074, 185169183], [185181337, 185181447], [185183534, 185183651], [185184613, 185184751], [185190762, 185191549], [185195113, 185195184], [185198019, 185198317], [185200142, 185200244]]
ENST00000448876 [[185000728, 185000815], [185003304, 185003431], [185009400, 185010867]] [[185003393, 185003431], [185009400, 185009485]]
ENST00000455188 [[185000748, 185000815], [185003304, 185003431], [185009400, 185009548], [185046411, 185047051]] [[185003393, 185003431], [185009400, 185009485]]
ENST00000454237 [[185000813, 185000907], [185003304, 185003431], [185009400, 185009705]] [[185003393, 185003431], [185009400, 185009485]]
ENST00000438798 [[185003180, 185003431], [185009400, 185009537]] [[185003393, 185003431], [185009400, 185009485]]
ENST00000438053 [[185081029, 185081156], [185146284, 185146844], [185165576, 185165735], [185167687, 185167846], [185169074, 185169183], [185181337, 185181447], [185183534, 185183651], [185184613, 185184751], [185190762, 185191549], [185195113, 185195184], [185198019, 185198317], [185200142, 185200389]] [[185146369, 185146844], [185165576, 185165584]]
ENST00000439882 [[185146284, 185146844], [185161232, 185161424], [185165576, 185165735]] [[185146369, 185146844], [185161232, 185161342]]
ENST00000477582 [[185155234, 185155418], [185161232, 185161495]] None
ENST00000420577 [[185155332, 185155418], [185165576, 185165735], [185167687, 185167846], [185169074, 185169183], [185181337, 185181447], [185183534, 185183651]] [[185155332, 185155418], [185165576, 185165735], [185167687, 185167846], [185169074, 185169183], [185181337, 185181447], [185183534, 185183651]]
NM_001242314 [[185000728, 185000815], [185003312, 185003431], [185146284, 185146844], [185155234, 185155418], [185161232, 185161424], [185165576, 185165735], [185167687, 185167846], [185169074, 185169183], [185181337, 185181447], [185183534, 185183651], [185184613, 185184751], [185190762, 185191549], [185195113, 185195184], [185198019, 185198317], [185200142, 185206882]] [[185146369, 185146844], [185155234, 185155418], [185161232, 185161424], [185165576, 185165735], [185167687, 185167846], [185169074, 185169183], [185181337, 185181447], [185183534, 185183651], [185184613, 185184751], [185190762, 185191549], [185195113, 185195184], [185198019, 185198317], [185200142, 185200244]]
NM_001242317 [[185000728, 185000815], [185003304, 185003431], [185161232, 185161424], [185165576, 185165735], [185167687, 185167846], [185169074, 185169183], [185181337, 185181447], [185183534, 185183651], [185184613, 185184751], [185190762, 185191549], [185195113, 185195184], [185198019, 185198317], [185200142, 185206882]] [[185003393, 185003431], [185161232, 185161424], [185165576, 185165735], [185167687, 185167846], [185169074, 185169183], [185181337, 185181447], [185183534, 185183651], [185184613, 185184751], [185190762, 185191549], [185195113, 185195184], [185198019, 185198317], [185200142, 185200244]]
NM_004721 [[185080835, 185081156], [185146284, 185146844], [185155234, 185155418], [185161232, 185161424], [185165576, 185165735], [185167687, 185167846], [185169074, 185169183], [185181337, 185181447], [185183534, 185183651], [185184613, 185184751], [185190762, 185191549], [185195113, 185195184], [185198019, 185198317], [185200142, 185206882]] [[185146369, 185146844], [185155234, 185155418], [185161232, 185161424], [185165576, 185165735], [185167687, 185167846], [185169074, 185169183], [185181337, 185181447], [185183534, 185183651], [185184613, 185184751], [185190762, 185191549], [185195113, 185195184], [185198019, 185198317], [185200142, 185200244]]
NR_038322 [[185000728, 185000815], [185003304, 185003431], [185009400, 185010867]] None
Promoter
Chrom Start End Description
chr3 185000735 185000796 CAGE_peak_1_at_MAP3K13_5end
chr3 185046677 185046694 CAGE_peak_3_at_MAP3K13_5end
chr3 185080917 185080987 CAGE_peak_2_at_MAP3K13_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I185361 185361666 185364712 1.89 [{'connected_gene': 'MAP3K13', 'score': 557.37}, {'connected_gene': 'TRA2B', 'score': 16.35}, {'connected_gene': 'RPL4P4', 'score': 0.22}]
chr3 GH03I185297 185297975 185300799 1 [{'connected_gene': 'MAP3K13', 'score': 23.93}, {'connected_gene': 'C3orf70', 'score': 9.6}, {'connected_gene': 'RPL4P4', 'score': 0.13}]
chr3 GH03I185335 185335595 185338867 1.26 [{'connected_gene': 'MAP3K13', 'score': 26.37}, {'connected_gene': 'VPS8', 'score': 10.84}, {'connected_gene': 'RPL4P4', 'score': 0.18}]
chr3 GH03I185341 185341951 185343498 0.74 [{'connected_gene': 'MAP3K13', 'score': 25.44}, {'connected_gene': 'VPS8', 'score': 16.76}, {'connected_gene': 'RPL4P4', 'score': 0.18}]
chr3 GH03I185325 185325649 185333278 1.63 [{'connected_gene': 'MAP3K13', 'score': 38.4}, {'connected_gene': 'EHHADH', 'score': 11.33}, {'connected_gene': 'RPL4P4', 'score': 0.17}]
chr3 GH03I185316 185316316 185318582 1.54 [{'connected_gene': 'MAP3K13', 'score': 38.96}, {'connected_gene': 'EHHADH', 'score': 11.91}, {'connected_gene': 'C3orf70', 'score': 9.96}, {'connected_gene': 'RPL4P4', 'score': 0.15}]
chr3 GH03I185351 185351216 185352089 0.59 [{'connected_gene': 'MAP3K13', 'score': 15.73}, {'connected_gene': 'EHHADH', 'score': 10.96}, {'connected_gene': 'C3orf70', 'score': 9.29}, {'connected_gene': 'RPL4P4', 'score': 0.2}]
chr3 GH03I185308 185308689 185310251 0.67 [{'connected_gene': 'MAP3K13', 'score': 38.74}, {'connected_gene': 'EHHADH', 'score': 11.7}, {'connected_gene': 'C3orf70', 'score': 9.4}, {'connected_gene': 'RPL4P4', 'score': 0.14}]
chr3 GH03I185282 185282191 185283904 1.99 [{'connected_gene': 'MAP3K13', 'score': 576.96}, {'connected_gene': 'EHHADH', 'score': 550.77}, {'connected_gene': 'C3orf70', 'score': 6.02}, {'connected_gene': 'RPL4P4', 'score': 0.12}]
chr3 GH03I185488 185488629 185490907 0.92 [{'connected_gene': 'TMEM41A', 'score': 0.44}, {'connected_gene': 'LOC101929018', 'score': 0.44}, {'connected_gene': 'MAP3K13', 'score': 0.08}]
chr3 GH03I185365 185365393 185365542 0.6 [{'connected_gene': 'RPL4P4', 'score': 0.23}, {'connected_gene': 'MAP3K13', 'score': 0.18}]
chr3 GH03I185418 185418601 185418800 0.82 [{'connected_gene': 'RPL4P4', 'score': 550.77}, {'connected_gene': 'MAP3K13', 'score': 0.12}]
chr3 GH03I185420 185420895 185421164 0.56 [{'connected_gene': 'RPL4P4', 'score': 0.77}, {'connected_gene': 'PIR32146', 'score': 0.22}, {'connected_gene': 'MAP3K13', 'score': 0.12}]
chr3 GH03I185411 185411173 185411322 0.2 [{'connected_gene': 'RPL4P4', 'score': 0.44}, {'connected_gene': 'MAP3K13', 'score': 0.13}]
chr3 GH03I185176 185176853 185177002 0.57 [{'connected_gene': 'C3orf70', 'score': 11.77}, {'connected_gene': 'MAP3K13', 'score': 10.95}, {'connected_gene': 'EHHADH-AS1', 'score': 0.39}, {'connected_gene': 'GC03M185246', 'score': 0.2}]
chr3 GH03I185250 185250067 185251600 0.77 [{'connected_gene': 'VPS8', 'score': 16.78}, {'connected_gene': 'MAP3K13', 'score': 8.56}, {'connected_gene': 'MIR5588', 'score': 0.77}, {'connected_gene': 'EIF2S2P2', 'score': 0.77}, {'connected_gene': 'EHHADH', 'score': 0.29}]
chr3 GH03I185207 185207454 185208482 0.77 [{'connected_gene': 'VPS8', 'score': 15.09}, {'connected_gene': 'C3orf70', 'score': 10.79}, {'connected_gene': 'MAP3K13', 'score': 8.52}, {'connected_gene': 'GC03M185246', 'score': 0.28}, {'connected_gene': 'EHHADH-AS1', 'score': 0.25}, {'connected_gene': 'EHHADH', 'score': 0.19}]
chr3 GH03I185422 185422668 185424159 0.97 [{'connected_gene': 'EPHB3', 'score': 6.28}, {'connected_gene': 'RPL4P4', 'score': 0.77}, {'connected_gene': 'PIR32146', 'score': 0.22}, {'connected_gene': 'MAP3K13', 'score': 0.11}]
chr3 GH03I185309 185308213 185308382 0.62 [{'connected_gene': 'EHHADH', 'score': 11.7}, {'connected_gene': 'MAP3K13', 'score': 11.7}, {'connected_gene': 'C3orf70', 'score': 9.4}, {'connected_gene': 'RPL4P4', 'score': 0.14}]
chr3 GH03I185319 185319136 185320144 0.2 [{'connected_gene': 'EHHADH', 'score': 11.9}, {'connected_gene': 'MAP3K13', 'score': 11.9}, {'connected_gene': 'C3orf70', 'score': 9.96}, {'connected_gene': 'RPL4P4', 'score': 0.15}]
chr3 GH03I184443 184443094 184444122 0.65 [{'connected_gene': 'LINC02054', 'score': 11.36}, {'connected_gene': 'FAM131A', 'score': 11.17}, {'connected_gene': 'EIF4G1', 'score': 11.15}, {'connected_gene': 'LINC01840', 'score': 10.34}, {'connected_gene': 'MAP3K13', 'score': 5.47}, {'connected_gene': 'CHRD', 'score': 4.31}, {'connected_gene': 'LOC105374252', 'score': 0.25}]
chr3 GH03I185253 185253273 185254662 1.97 [{'connected_gene': 'MIR5588', 'score': 550.77}, {'connected_gene': 'EHHADH', 'score': 550.31}, {'connected_gene': 'VPS8', 'score': 16.77}, {'connected_gene': 'MAP3K13', 'score': 7.13}]
chr3 GH03I185354 185354213 185354442 0.72 [{'connected_gene': 'ENSG00000272970', 'score': 17.69}, {'connected_gene': 'MAP3K13', 'score': 16.76}, {'connected_gene': 'THPO', 'score': 14.39}, {'connected_gene': 'MAGEF1', 'score': 14.27}, {'connected_gene': 'EHHADH', 'score': 10.95}, {'connected_gene': 'C3orf70', 'score': 9.29}, {'connected_gene': 'RPL4P4', 'score': 0.21}]
chr3 GH03I185473 185473080 185474242 0.85 [{'connected_gene': 'PIR32146', 'score': 0.44}, {'connected_gene': 'RPL4P4', 'score': 0.23}, {'connected_gene': 'MAP3K13', 'score': 0.08}]
chr3 GH03I185456 185456201 185456600 0.31 [{'connected_gene': 'PIR32146', 'score': 0.34}, {'connected_gene': 'RPL4P4', 'score': 0.28}, {'connected_gene': 'MAP3K13', 'score': 0.09}]
chr3 GH03I185496 185496120 185499809 2.29 [{'connected_gene': 'GC03P185502', 'score': 550.77}, {'connected_gene': 'LOC105374254', 'score': 550.77}, {'connected_gene': 'TMEM41A', 'score': 550.77}, {'connected_gene': 'TRA2B', 'score': 17.07}, {'connected_gene': 'MAP3K13', 'score': 4.88}, {'connected_gene': 'LOC101929018', 'score': 0.37}]