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
ENST00000461804 [[156864296, 156864396], [156867075, 156867174], [156867273, 156867385], [156867624, 156867766], [156867853, 156867958], [156868070, 156868170], [156869965, 156870030], [156870824, 156870945], [156876654, 156876764], [156877193, 156877268], [156877580, 156878549]] [[156864341, 156864396], [156867075, 156867174], [156867273, 156867385], [156867624, 156867766], [156867853, 156867958], [156868070, 156868170], [156869965, 156870030], [156870824, 156870945], [156876654, 156876764], [156877193, 156877268], [156877580, 156877883]]
ENST00000295926 [[156865341, 156866378], [156867075, 156867174], [156867273, 156867385], [156867624, 156867766], [156867853, 156867958], [156868070, 156868170], [156869965, 156870030], [156870824, 156870945], [156876654, 156876764], [156877193, 156877268], [156877580, 156878002]] [[156866029, 156866378], [156867075, 156867174], [156867273, 156867385], [156867624, 156867766], [156867853, 156867958], [156868070, 156868170], [156869965, 156870030], [156870824, 156870945], [156876654, 156876764], [156877193, 156877268], [156877580, 156877883]]
ENST00000464316 [[156865583, 156866378], [156867075, 156867174], [156867273, 156867385], [156867624, 156867766], [156867853, 156867958], [156868070, 156868170], [156869965, 156872455]] None
ENST00000471247 [[156865584, 156866378], [156867075, 156867174], [156867273, 156867385], [156867624, 156870290]] None
ENST00000474539 [[156865584, 156866378], [156867075, 156867174], [156867273, 156867385], [156867624, 156867766], [156867853, 156867958], [156868070, 156871617]] None
ENST00000475298 [[156865584, 156866378], [156867075, 156867174], [156867273, 156867385], [156867624, 156867766], [156867853, 156867958], [156868070, 156868170], [156869517, 156869719], [156869965, 156870030], [156870824, 156870945], [156874799, 156874872], [156876654, 156876764], [156877193, 156877268], [156877580, 156877944]] [[156874841, 156874872], [156876654, 156876764], [156877193, 156877268], [156877580, 156877883]]
ENST00000476744 [[156865909, 156866378], [156867075, 156867174], [156867273, 156867734]] None
ENST00000470121 [[156866029, 156866378], [156867075, 156867174], [156867273, 156867385], [156867624, 156867766], [156867853, 156867958], [156868070, 156868170], [156869274, 156869380], [156869517, 156869719], [156869965, 156870030], [156870824, 156870945], [156876654, 156876764], [156877193, 156877268], [156877580, 156877883]] [[156869694, 156869719], [156869965, 156870030], [156870824, 156870945], [156876654, 156876764], [156877193, 156877268], [156877580, 156877883]]
ENST00000468977 [[156866104, 156866378], [156867075, 156867174], [156867273, 156867385], [156867468, 156867766], [156867853, 156867863]] [[156867598, 156867766], [156867853, 156867863]]
ENST00000467849 [[156866737, 156867174], [156867273, 156867422]] None
ENST00000476367 [[156866793, 156867174], [156867273, 156867385], [156867624, 156867766], [156867853, 156867958], [156868070, 156868170], [156869965, 156870030], [156870824, 156870945], [156874799, 156874872], [156876654, 156876764], [156877193, 156877268], [156877580, 156877899]] None
ENST00000477127 [[156867075, 156867174], [156867273, 156867385], [156867624, 156867766], [156867853, 156867958], [156868070, 156868170], [156869965, 156870030], [156870824, 156870945], [156874724, 156874872], [156876654, 156876764], [156877193, 156877268], [156877580, 156877967]] [[156874841, 156874872], [156876654, 156876764], [156877193, 156877268], [156877580, 156877883]]
ENST00000464679 [[156867232, 156867385], [156867624, 156867766], [156867853, 156867958], [156868070, 156868170], [156869965, 156869999]] None
ENST00000495471 [[156867729, 156867766], [156867853, 156868588]] None
ENST00000481173 [[156867735, 156867958], [156868070, 156868418]] None
ENST00000479052 [[156867916, 156867958], [156868070, 156868170], [156869965, 156870030], [156870824, 156870945], [156871287, 156871417]] None
ENST00000483789 [[156869188, 156869719], [156869965, 156870030], [156870824, 156870895]] None
ENST00000478454 [[156869805, 156870030], [156870824, 156870945], [156874724, 156874872], [156876654, 156876740]] None
ENST00000479596 [[156869870, 156870030], [156870824, 156870945], [156874799, 156874872], [156876654, 156876764], [156877193, 156877268], [156877580, 156877924]] None
ENST00000465947 [[156869965, 156870030], [156870824, 156870945], [156874795, 156874872], [156876654, 156876764], [156877193, 156877268], [156877580, 156877925]] [[156874841, 156874872], [156876654, 156876764], [156877193, 156877268], [156877580, 156877883]]
ENST00000467081 [[156870528, 156870945], [156876654, 156876764], [156877193, 156877230]] None
ENST00000464575 [[156870830, 156870945], [156876654, 156877044]] None
ENST00000295925 [[156874841, 156874872], [156876654, 156876764], [156877193, 156877268], [156877580, 156878482]] [[156874841, 156874872], [156876654, 156876764], [156877193, 156877268], [156877580, 156877883]]
ENST00000471044 [[156876453, 156876764], [156877193, 156877268], [156877580, 156877947]] None
ENST00000466101 [[156876703, 156877268], [156877580, 156877926]] None
NM_001308185 [[156864290, 156864396], [156867075, 156867174], [156867273, 156867385], [156867624, 156867766], [156867853, 156867958], [156868070, 156868170], [156869965, 156870030], [156870824, 156870945], [156876654, 156876764], [156877193, 156877268], [156877580, 156878549]] [[156864341, 156864396], [156867075, 156867174], [156867273, 156867385], [156867624, 156867766], [156867853, 156867958], [156868070, 156868170], [156869965, 156870030], [156870824, 156870945], [156876654, 156876764], [156877193, 156877268], [156877580, 156877883]]
NM_020307 [[156865341, 156866378], [156867075, 156867174], [156867273, 156867385], [156867624, 156867766], [156867853, 156867958], [156868070, 156868170], [156869965, 156870030], [156870824, 156870945], [156876654, 156876764], [156877193, 156877268], [156877580, 156878549]] [[156866029, 156866378], [156867075, 156867174], [156867273, 156867385], [156867624, 156867766], [156867853, 156867958], [156868070, 156868170], [156869965, 156870030], [156870824, 156870945], [156876654, 156876764], [156877193, 156877268], [156877580, 156877883]]
Promoter
Chrom Start End Description
chr3 156868805 156868817 CAGE_peak_26_at_CCNL1_5end
chr3 156869824 156869836 CAGE_peak_13_at_CCNL1_5end
chr3 156871337 156871355 CAGE_peak_10_at_CCNL1_5end
chr3 156871560 156871581 CAGE_peak_8_at_CCNL1_5end
chr3 156872939 156872954 CAGE_peak_14_at_CCNL1_5end
chr3 156877038 156877058 CAGE_peak_35_at_CCNL1_5end
chr3 156877232 156877257 CAGE_peak_7_at_CCNL1_5end
chr3 156877896 156877946 CAGE_peak_1_at_CCNL1_5end
chr3 156877955 156877974 CAGE_peak_2_at_CCNL1_5end
chr3 156877978 156877987 CAGE_peak_3_at_CCNL1_5end
chr3 156877997 156878004 CAGE_peak_4_at_CCNL1_5end
chr3 156878186 156878199 CAGE_peak_71_at_CCNL1_5end
chr3 156878415 156878435 CAGE_peak_9_at_CCNL1_5end
chr3 156878483 156878506 CAGE_peak_6_at_CCNL1_5end
chr3 156878540 156878560 CAGE_peak_5_at_CCNL1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I157498 157498973 157500481 1.87 [{'connected_gene': 'VEPH1', 'score': 550.29}, {'connected_gene': 'CCNL1', 'score': 15.79}, {'connected_gene': 'PTX3', 'score': 0.21}]
chr3 GH03I156814 156814294 156821113 1.99 [{'connected_gene': 'LINC00886', 'score': 595.38}, {'connected_gene': 'GC03M156815', 'score': 550.77}, {'connected_gene': 'GMPS', 'score': 15.24}, {'connected_gene': 'CCNL1', 'score': 10.16}, {'connected_gene': 'LEKR1', 'score': 5.78}, {'connected_gene': 'TIPARP', 'score': 5.69}]
chr3 GH03I156549 156549765 156556118 2.28 [{'connected_gene': 'SSR3', 'score': 557.0}, {'connected_gene': 'GMPS', 'score': 15.99}, {'connected_gene': 'CCNL1', 'score': 15.76}, {'connected_gene': 'ENSG00000272990', 'score': 7.0}, {'connected_gene': 'KCNAB1', 'score': 5.84}, {'connected_gene': 'GC03P156555', 'score': 0.77}, {'connected_gene': 'GC03M156535', 'score': 0.37}]
chr3 GH03I158101 158101490 158107934 1.95 [{'connected_gene': 'SHOX2', 'score': 561.21}, {'connected_gene': 'RSRC1', 'score': 550.77}, {'connected_gene': 'CCNL1', 'score': 9.81}, {'connected_gene': 'MLF1', 'score': 5.48}, {'connected_gene': 'ENSG00000240207', 'score': 4.27}, {'connected_gene': 'GFM1', 'score': 4.19}, {'connected_gene': 'ENSG00000242536', 'score': 0.37}]
chr3 GH03I156809 156809918 156813971 1.72 [{'connected_gene': 'PA2G4P4', 'score': 550.77}, {'connected_gene': 'LINC00886', 'score': 44.01}, {'connected_gene': 'CCNL1', 'score': 19.33}, {'connected_gene': 'LEKR1', 'score': 17.13}, {'connected_gene': 'TIPARP', 'score': 5.91}, {'connected_gene': 'GC03P156804', 'score': 0.44}]
chr3 GH03I157429 157429811 157430124 0.25 [{'connected_gene': 'CCNL1', 'score': 4.1}, {'connected_gene': 'PTX3', 'score': 2.44}, {'connected_gene': 'VEPH1', 'score': 0.15}, {'connected_gene': 'LOC105374179', 'score': 0.09}]
chr3 GH03I157155 157155316 157162448 2.74 [{'connected_gene': 'CCNL1', 'score': 587.92}, {'connected_gene': 'KRT18P34', 'score': 30.76}, {'connected_gene': 'ENSG00000243176', 'score': 7.79}, {'connected_gene': 'LINC00880', 'score': 4.65}, {'connected_gene': 'ENSG00000201778', 'score': 0.44}]
chr3 GH03I157107 157107625 157108561 1.1 [{'connected_gene': 'CCNL1', 'score': 11.21}, {'connected_gene': 'LINC00880', 'score': 5.14}, {'connected_gene': 'LINC00881', 'score': 0.37}]
chr3 GH03I158109 158109450 158111294 2.1 [{'connected_gene': 'RSRC1', 'score': 560.65}, {'connected_gene': 'CCNL1', 'score': 15.76}, {'connected_gene': 'LXN', 'score': 10.15}, {'connected_gene': 'SHOX2', 'score': 0.77}, {'connected_gene': 'GC03M158221', 'score': 0.14}]
chr3 GH03I157162 157162601 157163000 0.72 [{'connected_gene': 'KRT18P34', 'score': 580.99}, {'connected_gene': 'LOC101928236', 'score': 550.77}, {'connected_gene': 'ENSG00000241770', 'score': 550.77}, {'connected_gene': 'CCNL1', 'score': 0.77}]
chr3 GH03I157119 157119274 157124144 1.67 [{'connected_gene': 'LINC00880', 'score': 562.73}, {'connected_gene': 'SSR3', 'score': 9.97}, {'connected_gene': 'LEKR1', 'score': 7.99}, {'connected_gene': 'CCNL1', 'score': 7.98}, {'connected_gene': 'TIPARP', 'score': 5.71}, {'connected_gene': 'TIPARP-AS1', 'score': 4.51}, {'connected_gene': 'LINC00881', 'score': 0.29}]
chr3 GH03I156673 156673334 156687687 2.77 [{'connected_gene': 'TIPARP', 'score': 558.24}, {'connected_gene': 'CCNL1', 'score': 32.22}, {'connected_gene': 'LINC00886', 'score': 27.39}, {'connected_gene': 'LEKR1', 'score': 19.6}, {'connected_gene': 'SSR3', 'score': 10.86}, {'connected_gene': 'TIPARP-AS1', 'score': 10.5}, {'connected_gene': 'PIR33904', 'score': 0.77}, {'connected_gene': 'METTL15P1', 'score': 0.29}]
chr3 GH03I156735 156735652 156735733 0.39 [{'connected_gene': 'TIPARP', 'score': 2.51}, {'connected_gene': 'CCNL1', 'score': 1.44}, {'connected_gene': 'METTL15P1', 'score': 0.34}, {'connected_gene': 'GC03P156804', 'score': 0.2}]
chr3 GH03I157064 157064322 157064765 1.36 [{'connected_gene': 'TIPARP', 'score': 15.09}, {'connected_gene': 'LEKR1', 'score': 10.91}, {'connected_gene': 'CCNL1', 'score': 7.35}, {'connected_gene': 'LINC00886', 'score': 4.67}, {'connected_gene': 'LINC02029', 'score': 0.37}, {'connected_gene': 'RN7SKP177', 'score': 0.25}]
chr3 GH03I156725 156725772 156725961 0.64 [{'connected_gene': 'TIPARP', 'score': 2.48}, {'connected_gene': 'LEKR1', 'score': 1.61}, {'connected_gene': 'CCNL1', 'score': 1.43}, {'connected_gene': 'METTL15P1', 'score': 0.39}, {'connected_gene': 'GC03P156804', 'score': 0.18}]
chr3 GH03I156620 156620047 156620979 0.9 [{'connected_gene': 'TIPARP', 'score': 11.7}, {'connected_gene': 'TIPARP-AS1', 'score': 11.69}, {'connected_gene': 'CCNL1', 'score': 11.0}, {'connected_gene': 'SLC33A1', 'score': 10.51}, {'connected_gene': 'GMPS', 'score': 10.13}, {'connected_gene': 'LINC00886', 'score': 6.3}, {'connected_gene': 'GC03P156555', 'score': 0.2}]
chr3 GH03I157092 157092151 157093839 0.62 [{'connected_gene': 'TIPARP', 'score': 11.49}, {'connected_gene': 'TIPARP-AS1', 'score': 11.49}, {'connected_gene': 'CCNL1', 'score': 10.74}, {'connected_gene': 'ENSG00000241770', 'score': 10.73}, {'connected_gene': 'KRT18P34', 'score': 10.73}, {'connected_gene': 'SSR3', 'score': 10.49}, {'connected_gene': 'KCNAB1-AS1', 'score': 9.56}, {'connected_gene': 'LINC00881', 'score': 0.77}, {'connected_gene': 'LINC00880', 'score': 0.29}]
chr3 GH03I157085 157085606 157091780 2.22 [{'connected_gene': 'LINC00881', 'score': 550.77}, {'connected_gene': 'CCNL1', 'score': 36.36}, {'connected_gene': 'TIPARP-AS1', 'score': 11.6}, {'connected_gene': 'TIPARP', 'score': 11.6}, {'connected_gene': 'ENSG00000241770', 'score': 10.73}, {'connected_gene': 'KRT18P34', 'score': 10.72}, {'connected_gene': 'SSR3', 'score': 10.49}, {'connected_gene': 'KCNAB1-AS1', 'score': 10.17}, {'connected_gene': 'LINC02029', 'score': 0.44}, {'connected_gene': 'LINC00880', 'score': 0.29}]
chr3 GH03I156714 156714968 156715290 0.26 [{'connected_gene': 'METTL15P1', 'score': 550.77}, {'connected_gene': 'TIPARP', 'score': 13.88}, {'connected_gene': 'LINC00886', 'score': 11.13}, {'connected_gene': 'LEKR1', 'score': 11.12}, {'connected_gene': 'TIPARP-AS1', 'score': 10.9}, {'connected_gene': 'CCNL1', 'score': 1.94}, {'connected_gene': 'GC03P156804', 'score': 0.17}]
chr3 GH03I157148 157148312 157148461 0.49 [{'connected_gene': 'ENSG00000201778', 'score': 0.44}, {'connected_gene': 'CCNL1', 'score': 0.39}, {'connected_gene': 'GC03M157131', 'score': 0.37}]
chr3 GH03I157145 157145755 157146441 0.69 [{'connected_gene': 'ENSG00000201778', 'score': 0.44}, {'connected_gene': 'CCNL1', 'score': 0.39}, {'connected_gene': 'GC03M157131', 'score': 0.39}]
chr3 GH03I157124 157124715 157138181 1.96 [{'connected_gene': 'GC03M157131', 'score': 550.77}, {'connected_gene': 'KRT18P34', 'score': 27.41}, {'connected_gene': 'CCNL1', 'score': 24.02}, {'connected_gene': 'LEKR1', 'score': 14.08}, {'connected_gene': 'LINC00880', 'score': 13.94}, {'connected_gene': 'ENSG00000241770', 'score': 11.94}, {'connected_gene': 'TIPARP', 'score': 11.1}, {'connected_gene': 'SSR3', 'score': 10.39}, {'connected_gene': 'TIPARP-AS1', 'score': 5.03}]
chr3 GH03I157153 157153898 157155207 0.54 [{'connected_gene': 'ENSG00000201778', 'score': 550.77}, {'connected_gene': 'KRT18P34', 'score': 30.8}, {'connected_gene': 'ENSG00000243176', 'score': 11.49}, {'connected_gene': 'CCNL1', 'score': 0.44}]
chr3 GH03I157173 157173428 157177043 1.82 [{'connected_gene': 'ENSG00000243176', 'score': 555.51}, {'connected_gene': 'RNA5SP146', 'score': 550.77}, {'connected_gene': 'KRT18P34', 'score': 30.33}, {'connected_gene': 'CCNL1', 'score': 22.46}, {'connected_gene': 'TIPARP', 'score': 9.8}, {'connected_gene': 'LOC101928236', 'score': 0.39}, {'connected_gene': 'LOC100420048', 'score': 0.22}]

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