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
ENST00000297814 [[86451612, 86452400], [86457151, 86457316], [86465013, 86465212], [86468543, 86468750], [86474070, 86474286], [86482598, 86482775], [86485433, 86485547], [86495211, 86495409], [86498727, 86498933], [86501955, 86502111], [86503403, 86503507], [86503998, 86504168], [86506209, 86506416], [86514575, 86514719], [86517974, 86518933], [86523366, 86523567], [86530208, 86530593], [86536285, 86536342]] [[86451915, 86452400], [86457151, 86457316], [86465013, 86465212], [86468543, 86468750], [86474070, 86474286], [86482598, 86482775], [86485433, 86485547], [86495211, 86495409], [86498727, 86498933], [86501955, 86502111], [86503403, 86503507], [86503998, 86504168], [86506209, 86506416], [86514575, 86514719], [86517974, 86518933], [86523366, 86523567], [86530208, 86530506]]
ENST00000413982 [[86451612, 86452400], [86457151, 86457316], [86465013, 86465212], [86468543, 86468750], [86474070, 86474286], [86482598, 86482775], [86485433, 86485547], [86498727, 86498933], [86501955, 86502111], [86503403, 86503507], [86503998, 86504168], [86506209, 86506416], [86514575, 86514719], [86517974, 86518933], [86523366, 86523567], [86530208, 86530593], [86536285, 86536342]] [[86451915, 86452400], [86457151, 86457316], [86465013, 86465212], [86468543, 86468750], [86474070, 86474286], [86482598, 86482775], [86485433, 86485547], [86498727, 86498933], [86501955, 86502111], [86503403, 86503507], [86503998, 86504168], [86506209, 86506416], [86514575, 86514719], [86517974, 86518933], [86523366, 86523567], [86530208, 86530506]]
ENST00000334204 [[86451612, 86452400], [86457151, 86457316], [86465013, 86465212], [86468543, 86468750], [86474070, 86474286], [86495211, 86495409], [86498727, 86498933], [86501955, 86502111], [86503403, 86503507], [86503998, 86504168], [86506209, 86506416], [86514575, 86514719], [86517974, 86518933], [86523366, 86523567], [86530208, 86530593], [86536285, 86536342]] [[86451915, 86452400], [86457151, 86457316], [86465013, 86465212], [86468543, 86468750], [86474070, 86474286], [86495211, 86495409], [86498727, 86498933], [86501955, 86502111], [86503403, 86503507], [86503998, 86504168], [86506209, 86506416], [86514575, 86514719], [86517974, 86518933], [86523366, 86523567], [86530208, 86530506]]
ENST00000376347 [[86495032, 86495409], [86498727, 86498933], [86501955, 86502111], [86503403, 86503507], [86503998, 86504185]] [[86495166, 86495409], [86498727, 86498933], [86501955, 86502111], [86503403, 86503507], [86503998, 86504150]]
ENST00000495062 [[86513610, 86513863], [86514575, 86514719], [86523366, 86523567], [86530208, 86530593]] [[86514702, 86514719], [86523366, 86523567], [86530208, 86530506]]
NM_017576 [[86451612, 86452400], [86457151, 86457316], [86465013, 86465212], [86468543, 86468750], [86474070, 86474286], [86482598, 86482775], [86485433, 86485547], [86495211, 86495409], [86498727, 86498933], [86501955, 86502111], [86503403, 86503507], [86503998, 86504168], [86506209, 86506416], [86514575, 86514719], [86517974, 86518933], [86523366, 86523567], [86530208, 86530593], [86536285, 86536380]] [[86451915, 86452400], [86457151, 86457316], [86465013, 86465212], [86468543, 86468750], [86474070, 86474286], [86482598, 86482775], [86485433, 86485547], [86495211, 86495409], [86498727, 86498933], [86501955, 86502111], [86503403, 86503507], [86503998, 86504168], [86506209, 86506416], [86514575, 86514719], [86517974, 86518933], [86523366, 86523567], [86530208, 86530506]]
NM_001271928 [[86451612, 86452400], [86457151, 86457316], [86465013, 86465212], [86468543, 86468750], [86474070, 86474286], [86495211, 86495409], [86498727, 86498933], [86501955, 86502111], [86503403, 86503507], [86503998, 86504168], [86506209, 86506416], [86514575, 86514719], [86517974, 86518933], [86523366, 86523567], [86530208, 86530593], [86536285, 86536380]] [[86451915, 86452400], [86457151, 86457316], [86465013, 86465212], [86468543, 86468750], [86474070, 86474286], [86495211, 86495409], [86498727, 86498933], [86501955, 86502111], [86503403, 86503507], [86503998, 86504168], [86506209, 86506416], [86514575, 86514719], [86517974, 86518933], [86523366, 86523567], [86530208, 86530506]]
NM_001271927 [[86451612, 86452400], [86457151, 86457316], [86465013, 86465212], [86468543, 86468750], [86474070, 86474286], [86482598, 86482775], [86485433, 86485547], [86498727, 86498933], [86501955, 86502111], [86503403, 86503507], [86503998, 86504168], [86506209, 86506416], [86514575, 86514719], [86517974, 86518933], [86523366, 86523567], [86530208, 86530593], [86536285, 86536380]] [[86451915, 86452400], [86457151, 86457316], [86465013, 86465212], [86468543, 86468750], [86474070, 86474286], [86482598, 86482775], [86485433, 86485547], [86498727, 86498933], [86501955, 86502111], [86503403, 86503507], [86503998, 86504168], [86506209, 86506416], [86514575, 86514719], [86517974, 86518933], [86523366, 86523567], [86530208, 86530506]]
Promoter
Chrom Start End Description
chr9 86536323 86536414 CAGE_peak_1_at_KIF27_5end
chr9 86536420 86536454 CAGE_peak_2_at_KIF27_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I083983 83983001 83983400 0.63 [{'connected_gene': 'C9orf64', 'score': 11.41}, {'connected_gene': 'KIF27', 'score': 10.41}, {'connected_gene': 'LOC105376116', 'score': 9.84}, {'connected_gene': 'RMI1', 'score': 6.63}, {'connected_gene': 'GC09P083995', 'score': 0.44}]
chr9 GH09I083955 83955322 83957605 1.99 [{'connected_gene': 'C9orf64', 'score': 550.77}, {'connected_gene': 'HNRNPK', 'score': 16.35}, {'connected_gene': 'LOC105376114', 'score': 7.48}, {'connected_gene': 'RMI1', 'score': 6.75}, {'connected_gene': 'KIF27', 'score': 0.29}]
chr9 GH09I083933 83933341 83936204 0.94 [{'connected_gene': 'C9orf64', 'score': 12.97}, {'connected_gene': 'LOC105376116', 'score': 10.63}, {'connected_gene': 'RMI1', 'score': 7.12}, {'connected_gene': 'ENSG00000231616', 'score': 4.85}, {'connected_gene': 'KIF27', 'score': 0.39}]
chr9 GH09I083816 83816400 83820151 1.87 [{'connected_gene': 'GKAP1', 'score': 558.34}, {'connected_gene': 'LOC101927552', 'score': 550.77}, {'connected_gene': 'KIF27', 'score': 10.62}, {'connected_gene': 'ENSG00000231616', 'score': 6.3}, {'connected_gene': 'LOC105376114', 'score': 5.78}]
chr9 GH09I083986 83986137 83989206 1.42 [{'connected_gene': 'KIF27', 'score': 10.56}, {'connected_gene': 'RMI1', 'score': 7.14}, {'connected_gene': 'GC09P083995', 'score': 0.44}]
chr9 GH09I083885 83885292 83886913 1.05 [{'connected_gene': 'KIF27', 'score': 10.92}, {'connected_gene': 'IDNK', 'score': 8.41}, {'connected_gene': 'GKAP1', 'score': 7.42}, {'connected_gene': 'LOC105376335', 'score': 0.29}, {'connected_gene': 'ENSG00000231616', 'score': 0.23}]
chr9 GH09I083508 83508146 83508295 0.64 [{'connected_gene': 'KIF27', 'score': 4.71}, {'connected_gene': 'HNRNPK', 'score': 1.74}, {'connected_gene': 'UBQLN1', 'score': 1.26}, {'connected_gene': 'PIR58953', 'score': 0.77}, {'connected_gene': 'GC09M083513', 'score': 0.77}, {'connected_gene': 'FRMD3', 'score': 0.29}, {'connected_gene': 'GC09M083455', 'score': 0.21}]
chr9 GH09I083961 83961853 83963112 0.82 [{'connected_gene': 'KIF27', 'score': 10.94}, {'connected_gene': 'LOC105376116', 'score': 10.47}, {'connected_gene': 'RMI1', 'score': 6.04}, {'connected_gene': 'MIR7-1', 'score': 0.44}, {'connected_gene': 'C9orf64', 'score': 0.44}]
chr9 GH09I083965 83965001 83966175 0.97 [{'connected_gene': 'KIF27', 'score': 10.94}, {'connected_gene': 'LOC105376116', 'score': 10.47}, {'connected_gene': 'IDNK', 'score': 8.38}, {'connected_gene': 'ENSG00000231616', 'score': 4.82}, {'connected_gene': 'MIR7-1', 'score': 0.77}, {'connected_gene': 'C9orf64', 'score': 0.44}]
chr9 GH09I084265 84265766 84266600 0.6 [{'connected_gene': 'KIF27', 'score': 10.0}, {'connected_gene': 'LOC105376116', 'score': 0.39}, {'connected_gene': 'HMGN2P33', 'score': 0.09}]
chr9 GH09I082923 82923466 82923575 0.94 [{'connected_gene': 'KIF27', 'score': 12.55}, {'connected_gene': 'GC09P082928', 'score': 0.77}, {'connected_gene': 'PIR62855', 'score': 0.28}]
chr9 GH09I083912 83912200 83912600 0.52 [{'connected_gene': 'IDNK', 'score': 10.5}, {'connected_gene': 'LOC105376335', 'score': 0.44}, {'connected_gene': 'KIF27', 'score': 0.44}, {'connected_gene': 'ENSG00000231616', 'score': 0.18}]
chr9 GH09I083620 83620773 83626063 2.66 [{'connected_gene': 'IDNK', 'score': 562.26}, {'connected_gene': 'LOC105376114', 'score': 27.05}, {'connected_gene': 'KIF27', 'score': 22.06}, {'connected_gene': 'UBQLN1', 'score': 5.9}, {'connected_gene': 'GKAP1', 'score': 1.43}, {'connected_gene': 'GC09M083666', 'score': 0.21}]
chr9 GH09I083977 83977305 83982808 2.29 [{'connected_gene': 'HNRNPK', 'score': 579.02}, {'connected_gene': 'RMI1', 'score': 557.48}, {'connected_gene': 'KIF27', 'score': 37.05}, {'connected_gene': 'C9orf64', 'score': 11.98}, {'connected_gene': 'LOC105376116', 'score': 9.84}, {'connected_gene': 'IDNK', 'score': 8.27}, {'connected_gene': 'GKAP1', 'score': 5.26}, {'connected_gene': 'ENSG00000235298', 'score': 0.44}]
chr9 GH09I083922 83922566 83922715 0.43 [{'connected_gene': 'LOC105376335', 'score': 550.77}, {'connected_gene': 'KIF27', 'score': 550.77}, {'connected_gene': 'C9orf64', 'score': 0.29}]
chr9 GH09I083920 83920178 83922276 1.99 [{'connected_gene': 'LOC105376335', 'score': 550.77}, {'connected_gene': 'KIF27', 'score': 550.77}, {'connected_gene': 'ENSG00000231616', 'score': 6.11}]
chr9 GH09I083937 83937966 83938135 0.63 [{'connected_gene': 'LOC105376116', 'score': 10.61}, {'connected_gene': 'C9orf64', 'score': 0.37}, {'connected_gene': 'KIF27', 'score': 0.37}]
chr9 GH09I083940 83940562 83941608 0.38 [{'connected_gene': 'LOC105376116', 'score': 10.61}, {'connected_gene': 'C9orf64', 'score': 0.37}, {'connected_gene': 'KIF27', 'score': 0.37}]
chr9 GH09I084315 84315201 84315602 0.8 [{'connected_gene': 'LOC105376116', 'score': 11.74}, {'connected_gene': 'KIF27', 'score': 10.27}, {'connected_gene': 'IDNK', 'score': 9.03}, {'connected_gene': 'SLC28A3', 'score': 0.23}]
chr9 GH09I084253 84253366 84256763 0.49 [{'connected_gene': 'LOC105376116', 'score': 11.81}, {'connected_gene': 'KIF27', 'score': 10.16}, {'connected_gene': 'HMGN2P33', 'score': 0.1}]
chr9 GH09I083705 83705512 83709453 2.29 [{'connected_gene': 'LOC105376114', 'score': 582.31}, {'connected_gene': 'UBQLN1', 'score': 550.77}, {'connected_gene': 'HNRNPK', 'score': 20.14}, {'connected_gene': 'KIF27', 'score': 12.64}, {'connected_gene': 'IDNK', 'score': 10.51}, {'connected_gene': 'GC09M083666', 'score': 0.34}]
chr9 GH09I083992 83992094 83992831 0.88 [{'connected_gene': 'GC09P083995', 'score': 550.77}, {'connected_gene': 'ENSG00000202523', 'score': 550.77}, {'connected_gene': 'KIF27', 'score': 10.79}, {'connected_gene': 'LOC105376116', 'score': 10.08}, {'connected_gene': 'RMI1', 'score': 0.39}]