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
ENST00000406870 [[187439164, 187440389], [187442728, 187442866], [187443286, 187443417], [187444518, 187444686], [187446147, 187446332], [187446837, 187447809], [187449496, 187449718], [187451320, 187451491], [187452656, 187452695], [187463197, 187463515]] [[187440245, 187440389], [187442728, 187442866], [187443286, 187443417], [187444518, 187444686], [187446147, 187446332], [187446837, 187447809], [187449496, 187449718], [187451320, 187451481]]
ENST00000419510 [[187439174, 187440389], [187442728, 187442866], [187443286, 187443417], [187444518, 187444686], [187446147, 187446332], [187446837, 187447809], [187449496, 187449656], [187451320, 187451491], [187452656, 187452695], [187453877, 187454876]] [[187449649, 187449656], [187451320, 187451481]]
ENST00000232014 [[187440185, 187440389], [187442728, 187442866], [187443286, 187443417], [187444518, 187444686], [187446147, 187446332], [187446837, 187447809], [187449496, 187449718], [187451320, 187451491], [187452656, 187452695], [187453877, 187454357]] [[187440245, 187440389], [187442728, 187442866], [187443286, 187443417], [187444518, 187444686], [187446147, 187446332], [187446837, 187447809], [187449496, 187449718], [187451320, 187451481]]
ENST00000450123 [[187440219, 187440389], [187442728, 187442866], [187443286, 187443417], [187446147, 187446332], [187446837, 187447809], [187449496, 187449718], [187451320, 187451491], [187452656, 187452670]] [[187440245, 187440389], [187442728, 187442866], [187443286, 187443417], [187446147, 187446332], [187446837, 187447809], [187449496, 187449718], [187451320, 187451481]]
ENST00000479110 [[187442356, 187442866], [187443286, 187443411]] None
ENST00000430339 [[187449514, 187449718], [187451320, 187451491], [187452656, 187452735]] [[187449514, 187449718], [187451320, 187451481]]
ENST00000480458 [[187449552, 187449656], [187451320, 187451491], [187452656, 187452695], [187463197, 187463225]] None
ENST00000438077 [[187449567, 187449718], [187451320, 187451491], [187452656, 187452695], [187455384, 187455732]] [[187449567, 187449718], [187451320, 187451481]]
ENST00000470319 [[187452232, 187452695], [187463197, 187463260]] None
ENST00000496823 [[187453974, 187455062], [187463197, 187463247]] None
NM_001134738 [[187439164, 187440389], [187442728, 187442866], [187443286, 187443417], [187446147, 187446332], [187446837, 187447809], [187449496, 187449718], [187451320, 187451491], [187452656, 187452695]] [[187440245, 187440389], [187442728, 187442866], [187443286, 187443417], [187446147, 187446332], [187446837, 187447809], [187449496, 187449718], [187451320, 187451481]]
NM_001130845 [[187439164, 187440389], [187442728, 187442866], [187443286, 187443417], [187444518, 187444686], [187446147, 187446332], [187446837, 187447809], [187449496, 187449718], [187451320, 187451491], [187452656, 187452695], [187453877, 187454285]] [[187440245, 187440389], [187442728, 187442866], [187443286, 187443417], [187444518, 187444686], [187446147, 187446332], [187446837, 187447809], [187449496, 187449718], [187451320, 187451481]]
NM_001706 [[187439164, 187440389], [187442728, 187442866], [187443286, 187443417], [187444518, 187444686], [187446147, 187446332], [187446837, 187447809], [187449496, 187449718], [187451320, 187451491], [187452656, 187452695], [187463197, 187463513]] [[187440245, 187440389], [187442728, 187442866], [187443286, 187443417], [187444518, 187444686], [187446147, 187446332], [187446837, 187447809], [187449496, 187449718], [187451320, 187451481]]
Promoter
Chrom Start End Description
chr3 187454281 187454300 CAGE_peak_8_at_BCL6_5end
chr3 187455486 187455504 CAGE_peak_6_at_BCL6_5end
chr3 187455529 187455544 CAGE_peak_5_at_BCL6_5end
chr3 187455634 187455651 CAGE_peak_7_at_BCL6_5end
chr3 187455680 187455700 CAGE_peak_4_at_BCL6_5end
chr3 187463179 187463201 CAGE_peak_2_at_BCL6_5end
chr3 187463220 187463232 CAGE_peak_3_at_BCL6_5end
chr3 187463248 187463264 CAGE_peak_1_at_BCL6_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I187367 187367518 187370185 1.89 [{'connected_gene': 'RTP4', 'score': 574.93}, {'connected_gene': 'BCL6', 'score': 6.65}, {'connected_gene': 'ENSG00000280270', 'score': 0.39}]
chr3 GH03I187849 187849116 187849372 0.43 [{'connected_gene': 'BCL6', 'score': 19.28}, {'connected_gene': 'RTP4', 'score': 1.53}, {'connected_gene': 'GC03P187845', 'score': 0.77}, {'connected_gene': 'LOC105374264', 'score': 0.26}]
chr3 GH03I187777 187777086 187778399 1.31 [{'connected_gene': 'BCL6', 'score': 12.44}, {'connected_gene': 'ENSG00000224049', 'score': 5.99}, {'connected_gene': 'RTP4', 'score': 2.56}, {'connected_gene': 'LOC105374263', 'score': 0.37}]
chr3 GH03I187808 187808069 187812402 1.35 [{'connected_gene': 'BCL6', 'score': 4.58}, {'connected_gene': 'RTP4', 'score': 1.51}, {'connected_gene': 'ENSG00000224049', 'score': 0.39}, {'connected_gene': 'GC03M187815', 'score': 0.34}]
chr3 GH03I187985 187985773 187988443 1.45 [{'connected_gene': 'BCL6', 'score': 30.08}, {'connected_gene': 'LPP', 'score': 10.74}, {'connected_gene': 'BCL6-AS1', 'score': 10.57}, {'connected_gene': 'LINC01991', 'score': 0.39}, {'connected_gene': 'ENSG00000236412', 'score': 0.37}]
chr3 GH03I188006 188006452 188007349 1.05 [{'connected_gene': 'BCL6', 'score': 13.1}, {'connected_gene': 'LPP', 'score': 10.83}, {'connected_gene': 'ENSG00000225058', 'score': 0.77}, {'connected_gene': 'ENSG00000234238', 'score': 0.15}]
chr3 GH03I188007 188007942 188008800 0.42 [{'connected_gene': 'BCL6', 'score': 12.7}, {'connected_gene': 'LPP', 'score': 10.83}, {'connected_gene': 'ENSG00000225058', 'score': 0.77}, {'connected_gene': 'ENSG00000234238', 'score': 0.15}]
chr3 GH03I188122 188122789 188123999 1.29 [{'connected_gene': 'BCL6', 'score': 9.48}, {'connected_gene': 'ENSG00000234238', 'score': 0.37}, {'connected_gene': 'LPP', 'score': 0.31}]
chr3 GH03I188509 188509991 188510959 0.43 [{'connected_gene': 'BCL6', 'score': 10.1}, {'connected_gene': 'BCL6-AS1', 'score': 10.1}, {'connected_gene': 'MIR28', 'score': 9.81}, {'connected_gene': 'TPRG1-AS1', 'score': 4.75}, {'connected_gene': 'LPP-AS1', 'score': 0.22}, {'connected_gene': 'FLJ42393', 'score': 0.06}, {'connected_gene': 'LPP', 'score': 0.05}]
chr3 GH03I188445 188445739 188447235 0.74 [{'connected_gene': 'BCL6', 'score': 10.75}, {'connected_gene': 'BCL6-AS1', 'score': 10.75}, {'connected_gene': 'MIR28', 'score': 9.77}, {'connected_gene': 'LPP-AS1', 'score': 0.13}, {'connected_gene': 'FLJ42393', 'score': 0.06}, {'connected_gene': 'LPP', 'score': 0.06}]
chr3 GH03I188450 188450985 188454684 0.43 [{'connected_gene': 'BCL6', 'score': 10.75}, {'connected_gene': 'BCL6-AS1', 'score': 10.75}, {'connected_gene': 'MIR28', 'score': 9.77}, {'connected_gene': 'LPP-AS1', 'score': 0.13}, {'connected_gene': 'FLJ42393', 'score': 0.06}, {'connected_gene': 'LPP', 'score': 0.06}]
chr3 GH03I188281 188281872 188287683 1.24 [{'connected_gene': 'BCL6', 'score': 10.56}, {'connected_gene': 'BCL6-AS1', 'score': 10.56}, {'connected_gene': 'LPP', 'score': 10.1}, {'connected_gene': 'MIR28', 'score': 9.87}, {'connected_gene': 'FLJ42393', 'score': 0.14}, {'connected_gene': 'LPP-AS1', 'score': 0.06}]
chr3 GH03I187954 187954110 187956399 1.47 [{'connected_gene': 'BCL6', 'score': 14.95}, {'connected_gene': 'BCL6-AS1', 'score': 10.62}, {'connected_gene': 'LPP', 'score': 10.48}, {'connected_gene': 'RTP2', 'score': 1.36}, {'connected_gene': 'LOC105374265', 'score': 0.44}, {'connected_gene': 'LINC01991', 'score': 0.34}]
chr3 GH03I187964 187964872 187965112 1.01 [{'connected_gene': 'BCL6', 'score': 21.91}, {'connected_gene': 'BCL6-AS1', 'score': 10.41}, {'connected_gene': 'LINC01991', 'score': 0.39}, {'connected_gene': 'LOC105374265', 'score': 0.37}]
chr3 GH03I187956 187956401 187959295 1.02 [{'connected_gene': 'BCL6', 'score': 10.32}, {'connected_gene': 'BCL6-AS1', 'score': 10.32}, {'connected_gene': 'LOC105374265', 'score': 0.39}, {'connected_gene': 'LINC01991', 'score': 0.37}]
chr3 GH03I188163 188163962 188167520 1.38 [{'connected_gene': 'BCL6', 'score': 9.89}, {'connected_gene': 'BCL6-AS1', 'score': 9.89}, {'connected_gene': 'TPRG1-AS1', 'score': 5.04}, {'connected_gene': 'LPP', 'score': 0.39}, {'connected_gene': 'FLJ42393', 'score': 0.39}, {'connected_gene': 'LPP-AS2', 'score': 0.39}]
chr3 GH03I187735 187735299 187748320 2.66 [{'connected_gene': 'BCL6', 'score': 565.07}, {'connected_gene': 'BCL6-AS1', 'score': 550.77}, {'connected_gene': 'LOC100131635', 'score': 33.54}, {'connected_gene': 'ENSG00000200418', 'score': 24.05}, {'connected_gene': 'SNORA4', 'score': 20.99}, {'connected_gene': 'LPP', 'score': 11.75}, {'connected_gene': 'RFC4', 'score': 11.46}, {'connected_gene': 'SNORA81', 'score': 9.9}, {'connected_gene': 'ST6GAL1', 'score': 6.72}, {'connected_gene': 'RTP4', 'score': 2.89}, {'connected_gene': 'RTP2', 'score': 0.31}, {'connected_gene': 'GC03P187680', 'score': 0.21}]
chr3 GH03I188169 188169209 188170323 0.31 [{'connected_gene': 'BCL6', 'score': 9.89}, {'connected_gene': 'BCL6-AS1', 'score': 9.88}, {'connected_gene': 'ENSG00000234238', 'score': 6.98}, {'connected_gene': 'LOC100131635', 'score': 5.24}, {'connected_gene': 'FLJ42393', 'score': 0.44}, {'connected_gene': 'LPP', 'score': 0.37}, {'connected_gene': 'LPP-AS2', 'score': 0.37}]
chr3 GH03I187967 187967932 187969859 1.63 [{'connected_gene': 'BCL6', 'score': 16.77}, {'connected_gene': 'LINC01991', 'score': 0.44}, {'connected_gene': 'LOC105374265', 'score': 0.34}]
chr3 GH03I187963 187963002 187964599 1.13 [{'connected_gene': 'BCL6', 'score': 8.66}, {'connected_gene': 'LINC01991', 'score': 0.39}, {'connected_gene': 'LOC105374265', 'score': 0.37}]
chr3 GH03I187918 187918307 187920486 1.22 [{'connected_gene': 'BCL6', 'score': 10.89}, {'connected_gene': 'LOC105374264', 'score': 0.31}, {'connected_gene': 'LOC105374265', 'score': 0.31}]
chr3 GH03I187855 187855230 187855371 0.22 [{'connected_gene': 'BCL6', 'score': 4.2}, {'connected_gene': 'GC03P187845', 'score': 0.44}, {'connected_gene': 'LOC105374264', 'score': 0.29}]
chr3 GH03I187763 187763913 187765126 0.51 [{'connected_gene': 'BCL6', 'score': 0.37}, {'connected_gene': 'LOC105374263', 'score': 0.29}]
chr3 GH03I187766 187766797 187768425 0.38 [{'connected_gene': 'BCL6', 'score': 0.34}, {'connected_gene': 'LOC105374263', 'score': 0.31}]
chr3 GH03I187770 187770373 187770522 0.71 [{'connected_gene': 'BCL6', 'score': 0.34}, {'connected_gene': 'LOC105374263', 'score': 0.31}]
chr3 GH03I187989 187989453 187991003 0.74 [{'connected_gene': 'LPP', 'score': 10.28}, {'connected_gene': 'BCL6', 'score': 10.07}, {'connected_gene': 'BCL6-AS1', 'score': 10.07}, {'connected_gene': 'LINC01991', 'score': 0.39}, {'connected_gene': 'ENSG00000236412', 'score': 0.39}]
chr3 GH03I187997 187997367 188001706 1.58 [{'connected_gene': 'LPP', 'score': 10.84}, {'connected_gene': 'BCL6', 'score': 6.1}, {'connected_gene': 'ENSG00000225058', 'score': 0.77}, {'connected_gene': 'ENSG00000236412', 'score': 0.77}, {'connected_gene': 'LINC01991', 'score': 0.34}]
chr3 GH03I187748 187748615 187752281 1.61 [{'connected_gene': 'LPP', 'score': 11.08}, {'connected_gene': 'BCL6', 'score': 6.14}, {'connected_gene': 'LOC105374263', 'score': 0.25}]
chr3 GH03I188170 188170500 188172334 1.32 [{'connected_gene': 'BCL6-AS1', 'score': 9.88}, {'connected_gene': 'BCL6', 'score': 9.88}, {'connected_gene': 'ENSG00000234238', 'score': 7.62}, {'connected_gene': 'SST', 'score': 5.35}, {'connected_gene': 'LOC100131635', 'score': 5.27}, {'connected_gene': 'FLJ42393', 'score': 0.44}, {'connected_gene': 'LPP', 'score': 0.37}, {'connected_gene': 'LPP-AS2', 'score': 0.37}]
chr3 GH03I188279 188279459 188280545 0.87 [{'connected_gene': 'BCL6-AS1', 'score': 10.56}, {'connected_gene': 'BCL6', 'score': 10.56}, {'connected_gene': 'MIR28', 'score': 9.87}, {'connected_gene': 'FLJ42393', 'score': 0.15}, {'connected_gene': 'LPP', 'score': 0.13}, {'connected_gene': 'LPP-AS1', 'score': 0.06}]
chr3 GH03I187974 187974042 187976846 0.94 [{'connected_gene': 'LINC01991', 'score': 550.77}, {'connected_gene': 'LPP', 'score': 10.77}, {'connected_gene': 'BCL6', 'score': 10.58}, {'connected_gene': 'BCL6-AS1', 'score': 10.58}, {'connected_gene': 'LOC105374265', 'score': 0.31}]
chr3 GH03I187889 187889173 187890544 1.35 [{'connected_gene': 'LOC105374264', 'score': 550.77}, {'connected_gene': 'BCL6', 'score': 5.52}, {'connected_gene': 'ENSG00000224049', 'score': 4.75}, {'connected_gene': 'GC03P187845', 'score': 0.26}]
chr3 GH03I187782 187782568 187783768 0.72 [{'connected_gene': 'LOC105374263', 'score': 0.39}, {'connected_gene': 'BCL6', 'score': 0.28}]
chr3 GH03I187731 187731618 187733106 0.31 [{'connected_gene': 'LOC100131635', 'score': 22.51}, {'connected_gene': 'BCL6', 'score': 0.39}, {'connected_gene': 'BCL6-AS1', 'score': 0.39}, {'connected_gene': 'RTP2', 'score': 0.37}, {'connected_gene': 'GC03P187680', 'score': 0.23}]
chr3 GH03I187724 187724484 187731376 0.46 [{'connected_gene': 'LOC100131635', 'score': 24.82}, {'connected_gene': 'RTP2', 'score': 0.39}, {'connected_gene': 'BCL6', 'score': 0.37}, {'connected_gene': 'BCL6-AS1', 'score': 0.37}, {'connected_gene': 'GC03P187680', 'score': 0.25}]
chr3 GH03I188194 188194499 188194653 0.69 [{'connected_gene': 'ENSG00000234238', 'score': 12.52}, {'connected_gene': 'BCL6', 'score': 4.29}, {'connected_gene': 'LPP', 'score': 1.94}, {'connected_gene': 'FLJ42393', 'score': 0.37}, {'connected_gene': 'LPP-AS1', 'score': 0.05}]
chr3 GH03I188184 188184289 188187475 1.52 [{'connected_gene': 'ENSG00000234238', 'score': 14.63}, {'connected_gene': 'LPP', 'score': 11.65}, {'connected_gene': 'BCL6', 'score': 8.35}, {'connected_gene': 'FLJ42393', 'score': 0.44}, {'connected_gene': 'LPP-AS1', 'score': 0.05}]
chr3 GH03I188210 188210294 188221864 1.12 [{'connected_gene': 'ENSG00000234238', 'score': 11.59}, {'connected_gene': 'LPP', 'score': 11.05}, {'connected_gene': 'BCL6', 'score': 10.67}, {'connected_gene': 'BCL6-AS1', 'score': 10.67}, {'connected_gene': 'MIR28', 'score': 9.38}, {'connected_gene': 'FLJ42393', 'score': 0.28}, {'connected_gene': 'LPP-AS1', 'score': 0.05}]
chr3 GH03I187773 187773001 187774805 1.2 [{'connected_gene': 'ENSG00000224049', 'score': 6.57}, {'connected_gene': 'LOC105374263', 'score': 0.34}, {'connected_gene': 'BCL6', 'score': 0.31}]
chr3 GH03I187778 187778957 187779881 0.2 [{'connected_gene': 'ENSG00000224049', 'score': 6.63}, {'connected_gene': 'LOC105374263', 'score': 0.37}, {'connected_gene': 'BCL6', 'score': 0.29}]

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