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
ENST00000334956 [[12398731, 12399330], [12495291, 12495381], [12495459, 12495530], [12499393, 12499496], [12518004, 12518145], [12525860, 12525976], [12530130, 12530189], [12533060, 12533080], [12534845, 12534907], [12535543, 12535612], [12539156, 12539258], [12539991, 12540064], [12549395, 12552348]] [[12399074, 12399330], [12495291, 12495381], [12495459, 12495530], [12499393, 12499496], [12518004, 12518145], [12525860, 12525976], [12530130, 12530189], [12533060, 12533080], [12534845, 12534907], [12535543, 12535612], [12539156, 12539258], [12539991, 12540064], [12549395, 12549472]]
ENST00000530755 [[12399109, 12399330], [12495291, 12495381], [12495459, 12495530], [12499393, 12502356]] None
ENST00000539723 [[12399109, 12399330], [12495291, 12495381], [12495459, 12495530], [12499393, 12499496], [12518004, 12518145], [12525860, 12525976], [12530130, 12530196], [12534699, 12534712], [12534845, 12534907], [12535543, 12535612], [12539156, 12539258], [12539991, 12540064], [12549395, 12549812]] [[12399194, 12399330], [12495291, 12495381], [12495459, 12495530], [12499393, 12499496], [12518004, 12518145], [12525860, 12525976], [12530130, 12530196], [12534699, 12534712], [12534845, 12534907], [12535543, 12535612], [12539156, 12539258], [12539991, 12540064], [12549395, 12549472]]
ENST00000550549 [[12399145, 12399330], [12495291, 12495381], [12495459, 12495530], [12499393, 12499496], [12518004, 12518145], [12525860, 12525976], [12530130, 12530189], [12533060, 12533080], [12534845, 12534907], [12535543, 12535612], [12539156, 12539258], [12539991, 12540064], [12549395, 12551410]] [[12399194, 12399330], [12495291, 12495381], [12495459, 12495530], [12499393, 12499496], [12518004, 12518145], [12525860, 12525976], [12530130, 12530189], [12533060, 12533080], [12534845, 12534907], [12535543, 12535612], [12539156, 12539258], [12539991, 12540064], [12549395, 12549472]]
ENST00000538608 [[12419787, 12419900], [12495291, 12495381], [12495459, 12495530], [12499393, 12499496], [12518004, 12518145], [12525860, 12525976], [12530130, 12530189], [12533060, 12533080], [12534845, 12535351]] [[12495314, 12495381], [12495459, 12495530], [12499393, 12499496], [12518004, 12518145], [12525860, 12525976], [12530130, 12530189], [12533060, 12533080], [12534845, 12535141]]
ENST00000533345 [[12419787, 12419900], [12495291, 12495381], [12495459, 12495530], [12499393, 12499496], [12518004, 12518145], [12525860, 12525976], [12530130, 12530205], [12534845, 12535351]] None
ENST00000528916 [[12474281, 12474578], [12495291, 12495381], [12495459, 12495530], [12499393, 12499496], [12518004, 12518145], [12525860, 12525976], [12530130, 12530189], [12533060, 12533080]] [[12474550, 12474578], [12495291, 12495381], [12495459, 12495530], [12499393, 12499496], [12518004, 12518145], [12525860, 12525976], [12530130, 12530189], [12533060, 12533080]]
ENST00000526746 [[12495290, 12495381], [12495459, 12495530], [12498663, 12498768], [12499393, 12499471]] None
ENST00000533392 [[12495290, 12495381], [12495459, 12495530], [12518093, 12518145], [12525860, 12525902]] None
NM_018222 [[12399025, 12399330], [12495291, 12495381], [12495459, 12495530], [12499393, 12499496], [12518004, 12518145], [12525860, 12525976], [12530130, 12530189], [12533060, 12533080], [12534845, 12534907], [12535543, 12535612], [12539156, 12539258], [12539991, 12540064], [12549395, 12556903]] [[12399074, 12399330], [12495291, 12495381], [12495459, 12495530], [12499393, 12499496], [12518004, 12518145], [12525860, 12525976], [12530130, 12530189], [12533060, 12533080], [12534845, 12534907], [12535543, 12535612], [12539156, 12539258], [12539991, 12540064], [12549395, 12549472]]
Promoter
Chrom Start End Description
chr11 12399071 12399185 CAGE_peak_1_at_PARVA_5end
chr11 12495305 12495321 CAGE_peak_2_at_PARVA_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I012194 12194964 12202825 1.68 [{'connected_gene': 'MICAL2', 'score': 12.65}, {'connected_gene': 'MICALCL', 'score': 1.56}, {'connected_gene': 'PARVA', 'score': 1.45}, {'connected_gene': 'GC11P012216', 'score': 0.37}, {'connected_gene': 'MIR6124', 'score': 0.28}]
chr11 GH11I012283 12283842 12289539 2.05 [{'connected_gene': 'MICALCL', 'score': 553.22}, {'connected_gene': 'MICAL2', 'score': 14.91}, {'connected_gene': 'ENSG00000254680', 'score': 11.29}, {'connected_gene': 'PARVA', 'score': 6.59}, {'connected_gene': 'TEAD1', 'score': 1.47}, {'connected_gene': 'DKK3', 'score': 1.32}, {'connected_gene': 'ENSG00000254983', 'score': 0.37}, {'connected_gene': 'GC11M012237', 'score': 0.31}]
chr11 GH11I012673 12673049 12689993 2.74 [{'connected_gene': 'TEAD1', 'score': 555.62}, {'connected_gene': 'PARVA', 'score': 4.7}, {'connected_gene': 'GC11P012668', 'score': 0.39}, {'connected_gene': 'GC11P012753', 'score': 0.19}]
chr11 GH11I012528 12528689 12531276 0.43 [{'connected_gene': 'TEAD1', 'score': 9.55}, {'connected_gene': 'ENSG00000254847', 'score': 0.39}, {'connected_gene': 'GC11M012456', 'score': 0.19}, {'connected_gene': 'PARVA', 'score': 0.1}]
chr11 GH11I012518 12518034 12518183 0.46 [{'connected_gene': 'TEAD1', 'score': 9.19}, {'connected_gene': 'ENSG00000254847', 'score': 0.34}, {'connected_gene': 'GC11M012456', 'score': 0.21}, {'connected_gene': 'PARVA', 'score': 0.11}]
chr11 GH11I012524 12524482 12527802 0.38 [{'connected_gene': 'TEAD1', 'score': 10.02}, {'connected_gene': 'ENSG00000254847', 'score': 0.39}, {'connected_gene': 'GC11M012456', 'score': 0.2}, {'connected_gene': 'PARVA', 'score': 0.11}]
chr11 GH11I012375 12375675 12379422 2.07 [{'connected_gene': 'PARVA', 'score': 559.71}, {'connected_gene': 'TEAD1', 'score': 5.05}, {'connected_gene': 'GC11P012421', 'score': 0.26}]
chr11 GH11I012432 12432419 12435903 1.15 [{'connected_gene': 'PARVA', 'score': 1.54}, {'connected_gene': 'GC11P012421', 'score': 0.39}, {'connected_gene': 'GC11M012456', 'score': 0.34}]
chr11 GH11I012407 12407622 12415659 1.14 [{'connected_gene': 'PARVA', 'score': 11.08}, {'connected_gene': 'ENSG00000252329', 'score': 9.83}, {'connected_gene': 'GC11P012421', 'score': 0.44}]
chr11 GH11I012388 12388001 12388401 0.51 [{'connected_gene': 'PARVA', 'score': 0.39}, {'connected_gene': 'GC11P012421', 'score': 0.29}]
chr11 GH11I012392 12392188 12392396 0.4 [{'connected_gene': 'PARVA', 'score': 0.37}, {'connected_gene': 'GC11P012421', 'score': 0.31}]
chr11 GH11I012393 12392560 12393803 0.4 [{'connected_gene': 'PARVA', 'score': 0.37}, {'connected_gene': 'GC11P012421', 'score': 0.31}]
chr11 GH11I012389 12389002 12392038 0.78 [{'connected_gene': 'PARVA', 'score': 0.39}, {'connected_gene': 'GC11P012421', 'score': 0.29}]
chr11 GH11I012400 12400739 12401660 0.2 [{'connected_gene': 'PARVA', 'score': 11.71}, {'connected_gene': 'GC11P012421', 'score': 0.34}]
chr11 GH11I012362 12362954 12363103 0.2 [{'connected_gene': 'PARVA', 'score': 0.39}, {'connected_gene': 'GC11M012237', 'score': 0.25}]
chr11 GH11I012402 12402001 12404946 0.99 [{'connected_gene': 'PARVA', 'score': 11.69}, {'connected_gene': 'GC11P012421', 'score': 0.37}]
chr11 GH11I012366 12366001 12366821 1.03 [{'connected_gene': 'PARVA', 'score': 9.26}, {'connected_gene': 'GC11M012237', 'score': 0.23}]
chr11 GH11I012396 12396310 12399690 1.05 [{'connected_gene': 'PARVA', 'score': 11.71}, {'connected_gene': 'GC11P012421', 'score': 0.34}]
chr11 GH11I012386 12386208 12386807 0.38 [{'connected_gene': 'PARVA', 'score': 0.39}, {'connected_gene': 'GC11P012421', 'score': 0.29}]
chr11 GH11I012083 12083527 12092799 1.56 [{'connected_gene': 'ENSG00000255400', 'score': 566.92}, {'connected_gene': 'ENSG00000254680', 'score': 10.96}, {'connected_gene': 'MICAL2', 'score': 2.51}, {'connected_gene': 'PARVA', 'score': 1.55}, {'connected_gene': 'MICALCL', 'score': 1.39}]
chr11 GH11I012073 12073631 12080941 1.5 [{'connected_gene': 'ENSG00000255400', 'score': 15.14}, {'connected_gene': 'MICALCL', 'score': 13.49}, {'connected_gene': 'MICAL2', 'score': 3.55}, {'connected_gene': 'PARVA', 'score': 1.68}, {'connected_gene': 'DKK3', 'score': 1.48}, {'connected_gene': 'ENSG00000254991', 'score': 0.39}]
chr11 GH11I012318 12318442 12321615 0.77 [{'connected_gene': 'GC11M012237', 'score': 0.44}, {'connected_gene': 'MICALCL', 'score': 0.26}, {'connected_gene': 'PARVA', 'score': 0.22}]
chr11 GH11I012330 12330574 12330663 0.38 [{'connected_gene': 'GC11M012237', 'score': 0.37}, {'connected_gene': 'PARVA', 'score': 0.25}, {'connected_gene': 'MICALCL', 'score': 0.23}]
chr11 GH11I012331 12331201 12331601 0.87 [{'connected_gene': 'GC11M012237', 'score': 0.37}, {'connected_gene': 'PARVA', 'score': 0.25}, {'connected_gene': 'MICALCL', 'score': 0.22}]
chr11 GH11I012357 12357394 12357559 0.2 [{'connected_gene': 'ENSG00000252329', 'score': 10.09}, {'connected_gene': 'PARVA', 'score': 0.37}, {'connected_gene': 'GC11M012237', 'score': 0.26}, {'connected_gene': 'MICALCL', 'score': 0.18}]
chr11 GH11I012455 12455678 12458163 0.63 [{'connected_gene': 'GC11M012456', 'score': 550.77}, {'connected_gene': 'GC11P012421', 'score': 0.28}, {'connected_gene': 'PARVA', 'score': 0.18}]
chr11 GH11I012499 12499174 12499323 0.2 [{'connected_gene': 'GC11M012456', 'score': 0.26}, {'connected_gene': 'ENSG00000254847', 'score': 0.26}, {'connected_gene': 'PARVA', 'score': 0.13}]
chr11 GH11I012436 12436941 12437248 0.42 [{'connected_gene': 'GC11P012421', 'score': 0.37}, {'connected_gene': 'GC11M012456', 'score': 0.34}, {'connected_gene': 'PARVA', 'score': 0.21}]
chr11 GH11I012424 12424519 12429124 0.43 [{'connected_gene': 'GC11P012421', 'score': 0.44}, {'connected_gene': 'GC11M012456', 'score': 0.29}, {'connected_gene': 'PARVA', 'score': 0.23}]
chr11 GH11I012507 12507168 12509530 0.69 [{'connected_gene': 'ENSG00000254847', 'score': 0.29}, {'connected_gene': 'GC11M012456', 'score': 0.23}, {'connected_gene': 'PARVA', 'score': 0.12}]
chr11 GH11I012502 12502194 12502343 0.31 [{'connected_gene': 'ENSG00000254847', 'score': 0.28}, {'connected_gene': 'GC11M012456', 'score': 0.26}, {'connected_gene': 'PARVA', 'score': 0.13}]
chr11 GH11I012448 12448326 12449058 0.51 [{'connected_gene': 'GC11M012456', 'score': 0.44}, {'connected_gene': 'GC11P012421', 'score': 0.31}, {'connected_gene': 'PARVA', 'score': 0.19}]
chr11 GH11I012458 12458733 12462175 0.54 [{'connected_gene': 'GC11M012456', 'score': 0.77}, {'connected_gene': 'PARVA', 'score': 0.18}, {'connected_gene': 'ENSG00000254847', 'score': 0.18}]
chr11 GH11I012459 12458172 12458515 0.4 [{'connected_gene': 'GC11M012456', 'score': 550.77}, {'connected_gene': 'PARVA', 'score': 0.18}, {'connected_gene': 'ENSG00000254847', 'score': 0.18}]
chr11 GH11I012497 12497594 12497683 0.49 [{'connected_gene': 'GC11M012456', 'score': 0.26}, {'connected_gene': 'ENSG00000254847', 'score': 0.26}, {'connected_gene': 'PARVA', 'score': 0.13}]
chr11 GH11I012469 12469080 12470300 0.4 [{'connected_gene': 'GC11M012456', 'score': 0.39}, {'connected_gene': 'ENSG00000254847', 'score': 0.19}, {'connected_gene': 'PARVA', 'score': 0.16}]
chr11 GH11I012430 12430047 12432013 1.04 [{'connected_gene': 'GC11P012421', 'score': 0.44}, {'connected_gene': 'GC11M012456', 'score': 0.31}, {'connected_gene': 'PARVA', 'score': 0.23}]
chr11 GH11I012452 12452050 12454543 0.2 [{'connected_gene': 'GC11M012456', 'score': 0.77}, {'connected_gene': 'GC11P012421', 'score': 0.29}, {'connected_gene': 'PARVA', 'score': 0.18}]
chr11 GH11I012449 12449597 12451444 0.58 [{'connected_gene': 'GC11M012456', 'score': 0.44}, {'connected_gene': 'GC11P012421', 'score': 0.31}, {'connected_gene': 'PARVA', 'score': 0.19}]
chr11 GH11I012419 12419749 12422348 0.38 [{'connected_gene': 'GC11P012421', 'score': 550.77}, {'connected_gene': 'PARVA', 'score': 0.26}]
chr11 GH11I012516 12516834 12516983 0.2 [{'connected_gene': 'ENSG00000254847', 'score': 0.34}, {'connected_gene': 'GC11M012456', 'score': 0.22}, {'connected_gene': 'PARVA', 'score': 0.11}]
chr11 GH11I012480 12480494 12480643 0.2 [{'connected_gene': 'GC11M012456', 'score': 0.34}, {'connected_gene': 'ENSG00000254847', 'score': 0.21}, {'connected_gene': 'PARVA', 'score': 0.15}]
chr11 GH11I012443 12443559 12445538 0.2 [{'connected_gene': 'GC11M012456', 'score': 0.39}, {'connected_gene': 'GC11P012421', 'score': 0.34}, {'connected_gene': 'PARVA', 'score': 0.2}]
chr11 GH11I012440 12440676 12442291 0.58 [{'connected_gene': 'GC11M012456', 'score': 0.37}, {'connected_gene': 'GC11P012421', 'score': 0.34}, {'connected_gene': 'PARVA', 'score': 0.2}]
chr11 GH11I012472 12472734 12472883 0.4 [{'connected_gene': 'GC11M012456', 'score': 0.37}, {'connected_gene': 'ENSG00000254847', 'score': 0.2}, {'connected_gene': 'PARVA', 'score': 0.15}]
chr11 GH11I012416 12416264 12416926 0.69 [{'connected_gene': 'GC11P012421', 'score': 0.77}, {'connected_gene': 'PARVA', 'score': 0.26}]
chr11 GH11I012495 12495765 12497101 0.52 [{'connected_gene': 'GC11M012456', 'score': 0.28}, {'connected_gene': 'ENSG00000254847', 'score': 0.26}, {'connected_gene': 'PARVA', 'score': 0.13}]
chr11 GH11I012503 12502849 12503788 0.59 [{'connected_gene': 'ENSG00000254847', 'score': 0.28}, {'connected_gene': 'GC11M012456', 'score': 0.25}, {'connected_gene': 'PARVA', 'score': 0.13}]
chr11 GH11I012417 12417456 12419103 1.14 [{'connected_gene': 'GC11P012421', 'score': 0.77}, {'connected_gene': 'PARVA', 'score': 0.26}]
chr11 GH11I012439 12439354 12440222 0.72 [{'connected_gene': 'GC11M012456', 'score': 0.37}, {'connected_gene': 'GC11P012421', 'score': 0.37}, {'connected_gene': 'PARVA', 'score': 0.21}]
chr11 GH11I012478 12478067 12479543 0.38 [{'connected_gene': 'GC11M012456', 'score': 0.34}, {'connected_gene': 'ENSG00000254847', 'score': 0.21}, {'connected_gene': 'PARVA', 'score': 0.15}]
chr11 GH11I012523 12523137 12524344 0.2 [{'connected_gene': 'ENSG00000254847', 'score': 0.37}, {'connected_gene': 'GC11M012456', 'score': 0.2}, {'connected_gene': 'PARVA', 'score': 0.11}]
chr11 GH11I012482 12482924 12485003 0.4 [{'connected_gene': 'GC11M012456', 'score': 0.31}, {'connected_gene': 'ENSG00000254847', 'score': 0.22}, {'connected_gene': 'PARVA', 'score': 0.14}]

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