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
ENST00000381395 [[2150341, 2154453], [2154746, 2154895], [2156596, 2156759], [2158417, 2158520]] [[2154216, 2154453], [2154746, 2154895], [2156596, 2156753]]
ENST00000381406 [[2150341, 2154453], [2154746, 2154904], [2156596, 2156759], [2159458, 2160204]] [[2154216, 2154453], [2154746, 2154904], [2156596, 2156753]]
ENST00000416167 [[2150341, 2154453], [2154746, 2154895], [2156596, 2156759], [2159458, 2160619]] [[2154216, 2154453], [2154746, 2154895], [2156596, 2156753]]
ENST00000300632 [[2150347, 2154453], [2154746, 2154895], [2156596, 2156759], [2168795, 2169037], [2170355, 2170833]] [[2154216, 2154453], [2154746, 2154895], [2156596, 2156753]]
ENST00000434045 [[2153729, 2154453], [2154746, 2154895], [2156596, 2156759], [2161364, 2161529], [2162086, 2162468]] [[2154216, 2154453], [2154746, 2154895], [2156596, 2156759], [2161364, 2161526]]
ENST00000356578 [[2153767, 2154453], [2154746, 2154895], [2156596, 2156759], [2168795, 2169037], [2170355, 2170575], [2182014, 2182218], [2182397, 2182439]] [[2168841, 2169037], [2170355, 2170575], [2182014, 2182201]]
ENST00000381392 [[2153869, 2154453], [2154746, 2154904], [2156596, 2156759], [2158417, 2158517]] [[2154216, 2154453], [2154746, 2154904], [2156596, 2156753]]
ENST00000381389 [[2153902, 2154453], [2154746, 2154895], [2156596, 2156759], [2162086, 2162246]] [[2154216, 2154453], [2154746, 2154895], [2156596, 2156753]]
ENST00000418738 [[2153945, 2154453], [2154746, 2154895], [2156596, 2156759], [2158421, 2158535]] [[2154216, 2154453], [2154746, 2154895], [2156596, 2156753]]
ENST00000481781 [[2167852, 2167975], [2168795, 2169037], [2170355, 2170575], [2179496, 2179888]] None
ENST00000397270 [[2167855, 2167975], [2168795, 2169037], [2170355, 2170575], [2182014, 2182218], [2182397, 2182439]] [[2168841, 2169037], [2170355, 2170575], [2182014, 2182201]]
ENST00000476874 [[2170163, 2170575], [2179496, 2179566]] None
NM_001291861 [[2150341, 2154453], [2154746, 2154895], [2156596, 2156759], [2158421, 2158518]] [[2154216, 2154453], [2154746, 2154895], [2156596, 2156753]]
NM_000612 [[2150341, 2154453], [2154746, 2154895], [2156596, 2156759], [2159458, 2160204]] [[2154216, 2154453], [2154746, 2154895], [2156596, 2156753]]
NM_001127598 [[2150341, 2154453], [2154746, 2154895], [2156596, 2156759], [2161364, 2161529], [2162086, 2162354]] [[2154216, 2154453], [2154746, 2154895], [2156596, 2156759], [2161364, 2161526]]
NM_001291862 [[2150341, 2154453], [2154746, 2154895], [2156596, 2156759], [2162086, 2162354]] [[2154216, 2154453], [2154746, 2154895], [2156596, 2156753]]
NM_001007139 [[2150341, 2154453], [2154746, 2154895], [2156596, 2156759], [2168795, 2169037], [2170355, 2170833]] [[2154216, 2154453], [2154746, 2154895], [2156596, 2156753]]
Promoter
Chrom Start End Description
chr11 2151798 2151813 CAGE_peak_2_at_IGF2_5end
chr11 2152665 2152693 CAGE_peak_27_at_IGF2_5end
chr11 2152702 2152747 CAGE_peak_17_at_IGF2_5end
chr11 2152775 2152817 CAGE_peak_14_at_IGF2_5end
chr11 2152829 2152834 CAGE_peak_57_at_IGF2_5end
chr11 2152856 2152896 CAGE_peak_21_at_IGF2_5end
chr11 2152902 2152970 CAGE_peak_13_at_IGF2_5end
chr11 2152974 2153103 CAGE_peak_10_at_IGF2_5end
chr11 2153071 2153082 CAGE_peak_8_at_IGF2_5end
chr11 2153108 2153139 CAGE_peak_29_at_IGF2_5end
chr11 2153157 2153189 CAGE_peak_26_at_IGF2_5end
chr11 2153165 2153178 CAGE_peak_11_at_IGF2_5end
chr11 2153201 2153247 CAGE_peak_18_at_IGF2_5end
chr11 2153253 2153337 CAGE_peak_15_at_IGF2_5end
chr11 2153332 2153354 CAGE_peak_6_at_IGF2_5end
chr11 2153356 2153374 CAGE_peak_7_at_IGF2_5end
chr11 2153389 2153416 CAGE_peak_4_at_IGF2_5end
chr11 2153449 2153463 CAGE_peak_5_at_IGF2_5end
chr11 2154767 2154781 CAGE_peak_36_at_IGF2_5end
chr11 2154790 2154814 CAGE_peak_24_at_IGF2_5end
chr11 2154832 2154852 CAGE_peak_44_at_IGF2_5end
chr11 2154872 2154893 CAGE_peak_38_at_IGF2_5end
chr11 2156633 2156657 CAGE_peak_32_at_IGF2_5end
chr11 2156660 2156669 CAGE_peak_64_at_IGF2_5end
chr11 2156671 2156708 CAGE_peak_40_at_IGF2_5end
chr11 2156713 2156749 CAGE_peak_37_at_IGF2_5end
chr11 2156751 2156773 CAGE_peak_55_at_IGF2_5end
chr11 2158507 2158526 CAGE_peak_3_at_IGF2_5end
chr11 2159479 2159489 CAGE_peak_54_at_IGF2_5end
chr11 2159491 2159532 CAGE_peak_23_at_IGF2_5end
chr11 2159538 2159595 CAGE_peak_12_at_IGF2_5end
chr11 2159658 2159696 CAGE_peak_28_at_IGF2_5end
chr11 2159697 2159702 CAGE_peak_58_at_IGF2_5end
chr11 2159738 2159755 CAGE_peak_43_at_IGF2_5end
chr11 2159760 2159769 CAGE_peak_42_at_IGF2_5end
chr11 2159773 2159793 CAGE_peak_33_at_IGF2_5end
chr11 2159808 2159810 CAGE_peak_62_at_IGF2_5end
chr11 2159824 2159832 CAGE_peak_39_at_IGF2_5end
chr11 2159834 2159900 CAGE_peak_9_at_IGF2_5end
chr11 2159911 2159935 CAGE_peak_22_at_IGF2_5end
chr11 2159947 2159948 CAGE_peak_71_at_IGF2_5end
chr11 2159954 2159960 CAGE_peak_46_at_IGF2_5end
chr11 2160019 2160028 CAGE_peak_48_at_IGF2_5end
chr11 2160043 2160076 CAGE_peak_25_at_IGF2_5end
chr11 2160078 2160088 CAGE_peak_52_at_IGF2_5end
chr11 2160094 2160100 CAGE_peak_53_at_IGF2_5end
chr11 2160117 2160121 CAGE_peak_30_at_IGF2_5end
chr11 2160161 2160172 CAGE_peak_34_at_IGF2_5end
chr11 2160180 2160257 CAGE_peak_19_at_IGF2_5end
chr11 2160369 2160383 CAGE_peak_20_at_IGF2_5end
chr11 2160430 2160435 CAGE_peak_41_at_IGF2_5end
chr11 2160468 2160486 CAGE_peak_35_at_IGF2_5end
chr11 2160500 2160515 CAGE_peak_47_at_IGF2_5end
chr11 2160520 2160531 CAGE_peak_50_at_IGF2_5end
chr11 2160538 2160549 CAGE_peak_45_at_IGF2_5end
chr11 2160567 2160571 CAGE_peak_51_at_IGF2_5end
chr11 2160611 2160656 CAGE_peak_1_at_IGF2_5end
chr11 2160680 2160696 CAGE_peak_59_at_IGF2_5end
chr11 2162141 2162158 CAGE_peak_49_at_IGF2_5end
chr11 2162162 2162184 CAGE_peak_31_at_IGF2_5end
chr11 2162486 2162497 CAGE_peak_56_at_IGF2_5end
chr11 2162543 2162562 CAGE_peak_61_at_IGF2_5end
chr11 2168991 2169005 CAGE_peak_69_at_IGF2_5end
chr11 2170786 2170809 CAGE_peak_66_at_IGF2_5end
chr11 2182437 2182439 CAGE_peak_16_at_IGF2_5end,CAGE_peak_1_at_INS-IGF2_5end,CAGE_peak_1_at_INS_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I002156 2156551 2156700 0.85 [{'connected_gene': 'INS-IGF2', 'score': 0.77}, {'connected_gene': 'IGF2', 'score': 0.44}]
chr11 GH11I001960 1960964 1962190 0.65 [{'connected_gene': 'TH', 'score': 13.11}, {'connected_gene': 'IGF2', 'score': 2.02}, {'connected_gene': 'GC11P001949', 'score': 0.39}, {'connected_gene': 'GC11P001973', 'score': 0.39}, {'connected_gene': 'MRPL23', 'score': 0.39}]
chr11 GH11I002175 2175691 2175952 0.64 [{'connected_gene': 'TH', 'score': 17.18}, {'connected_gene': 'IGF2', 'score': 11.32}, {'connected_gene': 'IGF2-AS', 'score': 11.29}, {'connected_gene': 'MIR483', 'score': 11.27}, {'connected_gene': 'ASCL2', 'score': 3.01}, {'connected_gene': 'KRTAP5-6', 'score': 1.71}, {'connected_gene': 'MIR4686', 'score': 0.77}, {'connected_gene': 'GC11M002206', 'score': 0.28}]
chr11 GH11I002177 2177295 2177432 0.4 [{'connected_gene': 'TH', 'score': 18.9}, {'connected_gene': 'IGF2', 'score': 13.16}, {'connected_gene': 'IGF2-AS', 'score': 11.29}, {'connected_gene': 'MIR483', 'score': 11.27}, {'connected_gene': 'ASCL2', 'score': 4.07}, {'connected_gene': 'MIR4686', 'score': 0.77}, {'connected_gene': 'GC11M002206', 'score': 0.29}]
chr11 GH11I002026 2026436 2032785 0.43 [{'connected_gene': 'MIR483', 'score': 12.84}, {'connected_gene': 'ENSG00000240801', 'score': 12.84}, {'connected_gene': 'TH', 'score': 11.59}, {'connected_gene': 'IGF2-AS', 'score': 11.48}, {'connected_gene': 'IGF2', 'score': 11.47}, {'connected_gene': 'INS', 'score': 11.44}, {'connected_gene': 'INS-IGF2', 'score': 11.44}, {'connected_gene': 'KRTAP5-5', 'score': 10.43}, {'connected_gene': 'GC11M002042', 'score': 0.37}, {'connected_gene': 'GC11P002011', 'score': 0.37}]
chr11 GH11I002074 2074371 2074520 0.43 [{'connected_gene': 'MIR483', 'score': 11.73}, {'connected_gene': 'IGF2-AS', 'score': 11.71}, {'connected_gene': 'IGF2', 'score': 11.69}, {'connected_gene': 'ENSG00000199550', 'score': 9.74}, {'connected_gene': 'CD81', 'score': 9.74}, {'connected_gene': 'GC11P002077', 'score': 0.77}, {'connected_gene': 'GC11M002043', 'score': 0.31}]
chr11 GH11I002108 2108724 2110185 0.86 [{'connected_gene': 'MIR483', 'score': 12.6}, {'connected_gene': 'IGF2-AS', 'score': 12.56}, {'connected_gene': 'IGF2', 'score': 12.52}, {'connected_gene': 'TNNT3', 'score': 6.14}, {'connected_gene': 'TH', 'score': 4.63}, {'connected_gene': 'ENSG00000240801', 'score': 0.34}, {'connected_gene': 'GC11P002077', 'score': 0.29}]
chr11 GH11I002089 2089611 2089740 0.52 [{'connected_gene': 'MIR483', 'score': 11.53}, {'connected_gene': 'IGF2-AS', 'score': 11.5}, {'connected_gene': 'IGF2', 'score': 11.49}, {'connected_gene': 'GC11P002077', 'score': 0.39}, {'connected_gene': 'ENSG00000240801', 'score': 0.26}]
chr11 GH11I002095 2095019 2098617 1.06 [{'connected_gene': 'MIR483', 'score': 12.21}, {'connected_gene': 'IGF2-AS', 'score': 11.49}, {'connected_gene': 'IGF2', 'score': 11.46}, {'connected_gene': 'GC11P002077', 'score': 0.37}, {'connected_gene': 'ENSG00000240801', 'score': 0.29}]
chr11 GH11I002131 2131551 2139500 1.84 [{'connected_gene': 'MIR483', 'score': 550.77}, {'connected_gene': 'GC11M002134', 'score': 550.77}, {'connected_gene': 'IGF2', 'score': 550.39}, {'connected_gene': 'CARS', 'score': 6.49}, {'connected_gene': 'GC11P002138', 'score': 0.77}, {'connected_gene': 'INS-IGF2', 'score': 0.31}]
chr11 GH11I001849 1849656 1855952 2.35 [{'connected_gene': 'LSP1', 'score': 566.13}, {'connected_gene': 'KCNQ1OT1', 'score': 9.68}, {'connected_gene': 'TNNI2', 'score': 8.56}, {'connected_gene': 'TNNT3', 'score': 5.32}, {'connected_gene': 'H19', 'score': 5.27}, {'connected_gene': 'C11orf21', 'score': 2.92}, {'connected_gene': 'TSPAN32', 'score': 1.84}, {'connected_gene': 'IGF2', 'score': 1.36}, {'connected_gene': 'GC11P001831', 'score': 0.34}]
chr11 GH11I002186 2186448 2187200 1.13 [{'connected_gene': 'INS', 'score': 11.58}, {'connected_gene': 'INS-IGF2', 'score': 11.58}, {'connected_gene': 'IGF2', 'score': 11.55}, {'connected_gene': 'ENSG00000199550', 'score': 10.66}, {'connected_gene': 'CD81', 'score': 10.66}, {'connected_gene': 'RPL26P30', 'score': 10.19}, {'connected_gene': 'OSBPL5', 'score': 9.79}, {'connected_gene': 'TH', 'score': 6.28}, {'connected_gene': 'MIR4686', 'score': 0.39}, {'connected_gene': 'GC11M002206', 'score': 0.34}]
chr11 GH11I002158 2158373 2158432 1.02 [{'connected_gene': 'IGF2', 'score': 550.44}, {'connected_gene': 'INS-IGF2', 'score': 0.77}]
chr11 GH11I002178 2178852 2179349 0.86 [{'connected_gene': 'IGF2', 'score': 16.78}, {'connected_gene': 'TH', 'score': 16.08}, {'connected_gene': 'IGF2-AS', 'score': 11.29}, {'connected_gene': 'MIR483', 'score': 11.27}, {'connected_gene': 'ENSG00000236710', 'score': 5.56}, {'connected_gene': 'ASCL2', 'score': 3.24}, {'connected_gene': 'SYT8', 'score': 2.1}, {'connected_gene': 'MIR4686', 'score': 0.44}, {'connected_gene': 'GC11M002206', 'score': 0.29}]
chr11 GH11I002180 2180911 2181060 0.58 [{'connected_gene': 'IGF2', 'score': 12.59}, {'connected_gene': 'TRPM5', 'score': 11.92}, {'connected_gene': 'ENSG00000199550', 'score': 10.47}, {'connected_gene': 'CD81', 'score': 10.47}, {'connected_gene': 'MIR4686', 'score': 0.44}, {'connected_gene': 'GC11M002206', 'score': 0.29}]
chr11 GH11I002139 2139618 2152660 2.02 [{'connected_gene': 'IGF2', 'score': 556.82}, {'connected_gene': 'TSSC4', 'score': 13.29}, {'connected_gene': 'ENSG00000199550', 'score': 10.95}, {'connected_gene': 'CD81', 'score': 10.95}, {'connected_gene': 'LSP1', 'score': 10.84}, {'connected_gene': 'LOC100505570', 'score': 10.59}, {'connected_gene': 'KRTAP5-6', 'score': 10.59}, {'connected_gene': 'FAM99B', 'score': 10.59}, {'connected_gene': 'KRTAP5-5', 'score': 9.81}, {'connected_gene': 'TH', 'score': 6.71}, {'connected_gene': 'TNNT3', 'score': 6.48}, {'connected_gene': 'DUSP8', 'score': 5.39}, {'connected_gene': 'ENSG00000236710', 'score': 4.74}, {'connected_gene': 'IGF2-AS', 'score': 0.44}, {'connected_gene': 'GC11M002158', 'score': 0.44}, {'connected_gene': 'GC11M002156', 'score': 0.44}, {'connected_gene': 'INS-IGF2', 'score': 0.37}]
chr11 GH11I001690 1690154 1694795 1.42 [{'connected_gene': 'GATD1', 'score': 9.89}, {'connected_gene': 'LOC100505570', 'score': 5.85}, {'connected_gene': 'FAM99B', 'score': 5.76}, {'connected_gene': 'KRTAP5-6', 'score': 2.78}, {'connected_gene': 'IGF2', 'score': 1.75}, {'connected_gene': 'GC11M001692', 'score': 0.77}, {'connected_gene': 'GC11P001673', 'score': 0.37}]
chr11 GH11I001985 1985257 1999874 2.67 [{'connected_gene': 'LINC01219', 'score': 550.77}, {'connected_gene': 'H19', 'score': 550.44}, {'connected_gene': 'MRPL23-AS1', 'score': 20.66}, {'connected_gene': 'IGF2', 'score': 4.93}, {'connected_gene': 'TSPAN32', 'score': 4.5}, {'connected_gene': 'SYT8', 'score': 1.58}, {'connected_gene': 'ENSG00000274866', 'score': 0.77}, {'connected_gene': 'ENSG00000275266', 'score': 0.77}, {'connected_gene': 'MIR675', 'score': 0.77}, {'connected_gene': 'GC11P001986', 'score': 0.44}, {'connected_gene': 'GC11P001999', 'score': 0.44}, {'connected_gene': 'MRPL23', 'score': 0.25}]
chr11 GH11I001914 1914659 1914984 0.39 [{'connected_gene': 'MRPL23-AS1', 'score': 8.27}, {'connected_gene': 'TNNT3', 'score': 4.56}, {'connected_gene': 'TNNI2', 'score': 2.5}, {'connected_gene': 'KRTAP5-3', 'score': 2.08}, {'connected_gene': 'IGF2', 'score': 1.59}, {'connected_gene': 'LINC01150', 'score': 0.37}]
chr11 GH11I001962 1962482 1972699 1.99 [{'connected_gene': 'MRPL23-AS1', 'score': 17.72}, {'connected_gene': 'IGF2', 'score': 7.76}, {'connected_gene': 'TH', 'score': 5.64}, {'connected_gene': 'TNNI2', 'score': 2.17}, {'connected_gene': 'TNNT3', 'score': 1.6}, {'connected_gene': 'TSSC4', 'score': 1.53}, {'connected_gene': 'SYT8', 'score': 1.26}, {'connected_gene': 'GC11P001973', 'score': 0.44}, {'connected_gene': 'GC11P001949', 'score': 0.37}, {'connected_gene': 'MRPL23', 'score': 0.34}]
chr11 GH11I002076 2076611 2078442 0.82 [{'connected_gene': 'GC11P002077', 'score': 550.77}, {'connected_gene': 'MIR483', 'score': 11.41}, {'connected_gene': 'IGF2-AS', 'score': 11.34}, {'connected_gene': 'IGF2', 'score': 11.32}, {'connected_gene': 'SYT8', 'score': 9.85}, {'connected_gene': 'TNNI2', 'score': 9.85}, {'connected_gene': 'GC11M002043', 'score': 0.29}]
chr11 GH11I002099 2099311 2100960 0.85 [{'connected_gene': 'ENSG00000240801', 'score': 12.61}, {'connected_gene': 'MIR483', 'score': 12.59}, {'connected_gene': 'IGF2-AS', 'score': 11.93}, {'connected_gene': 'IGF2', 'score': 11.92}, {'connected_gene': 'GC11P002077', 'score': 0.34}]
chr11 GH11I002130 2130091 2130240 0.56 [{'connected_gene': 'ENSG00000240801', 'score': 550.77}, {'connected_gene': 'GC11M002134', 'score': 0.77}, {'connected_gene': 'IGF2', 'score': 0.37}, {'connected_gene': 'INS-IGF2', 'score': 0.29}]
chr11 GH11I002127 2127575 2129687 0.7 [{'connected_gene': 'ENSG00000240801', 'score': 550.77}, {'connected_gene': 'IGF2', 'score': 0.34}, {'connected_gene': 'INS-IGF2', 'score': 0.29}, {'connected_gene': 'GC11P002077', 'score': 0.23}]
chr11 GH11I002129 2129691 2129840 0.52 [{'connected_gene': 'ENSG00000240801', 'score': 550.77}, {'connected_gene': 'IGF2', 'score': 0.37}, {'connected_gene': 'INS-IGF2', 'score': 0.29}, {'connected_gene': 'GC11P002077', 'score': 0.23}]

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