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
ENST00000376281 [[86582997, 86584355], [86585076, 86585246], [86585651, 86585734], [86585811, 86585827], [86586187, 86586271], [86586586, 86586641], [86586796, 86587104], [86587758, 86587887], [86588200, 86588314], [86588816, 86588888], [86589431, 86589504], [86590376, 86590420], [86591909, 86591966], [86592603, 86592701], [86593109, 86593194], [86593287, 86593367], [86595417, 86595519]] [[86584321, 86584355], [86585076, 86585246], [86585651, 86585734], [86585811, 86585827], [86586187, 86586271], [86586586, 86586641], [86586796, 86587104], [86587758, 86587887], [86588200, 86588314], [86588816, 86588888], [86589431, 86589504], [86590376, 86590420], [86591909, 86591966], [86592603, 86592701], [86593109, 86593167]]
ENST00000376263 [[86582998, 86584355], [86585076, 86585246], [86585651, 86585734], [86585811, 86585827], [86586187, 86586271], [86586586, 86586641], [86586796, 86587104], [86587758, 86587887], [86588200, 86588314], [86588816, 86588888], [86589431, 86589504], [86590376, 86590420], [86591909, 86591966], [86592603, 86592701], [86593109, 86593194], [86593287, 86593367], [86595067, 86595184]] [[86584321, 86584355], [86585076, 86585246], [86585651, 86585734], [86585811, 86585827], [86586187, 86586271], [86586586, 86586641], [86586796, 86587104], [86587758, 86587887], [86588200, 86588314], [86588816, 86588888], [86589431, 86589504], [86590376, 86590420], [86591909, 86591966], [86592603, 86592701], [86593109, 86593167]]
ENST00000376264 [[86582998, 86584295], [86585076, 86585246], [86585651, 86585734], [86585811, 86585827], [86586187, 86586271], [86586586, 86586641], [86586796, 86587104], [86587758, 86587887], [86588200, 86588314], [86588816, 86588888], [86589431, 86589504], [86590376, 86590420], [86591909, 86591966], [86592603, 86592701], [86593109, 86593194], [86593287, 86593367], [86595417, 86595569]] [[86584264, 86584295], [86585076, 86585246], [86585651, 86585734], [86585811, 86585827], [86586187, 86586271], [86586586, 86586641], [86586796, 86587104], [86587758, 86587887], [86588200, 86588314], [86588816, 86588888], [86589431, 86589504], [86590376, 86590420], [86591909, 86591966], [86592603, 86592701], [86593109, 86593167]]
ENST00000351839 [[86583111, 86584295], [86585076, 86585246], [86585651, 86585734], [86585811, 86585827], [86586187, 86586271], [86586586, 86586641], [86586796, 86587104], [86587758, 86587887], [86588200, 86588314], [86588816, 86588888], [86589431, 86589504], [86590376, 86590420], [86591909, 86591966], [86592603, 86592701], [86593109, 86593194], [86593287, 86593367]] [[86584264, 86584295], [86585076, 86585246], [86585651, 86585734], [86585811, 86585827], [86586187, 86586271], [86586586, 86586641], [86586796, 86587104], [86587758, 86587887], [86588200, 86588314], [86588816, 86588888], [86589431, 86589504], [86590376, 86590420], [86591909, 86591966], [86592603, 86592701], [86593109, 86593167]]
ENST00000360384 [[86583823, 86584295], [86585076, 86585246], [86585651, 86585734], [86585811, 86585827], [86586187, 86586271], [86586586, 86586641], [86586796, 86587104], [86587758, 86587887], [86588200, 86588314], [86588816, 86588888], [86589431, 86589504], [86590376, 86590420], [86591909, 86591966], [86592603, 86592701], [86593109, 86593194], [86593287, 86593367], [86595067, 86595165]] [[86584264, 86584295], [86585076, 86585246], [86585651, 86585734], [86585811, 86585827], [86586187, 86586271], [86586586, 86586641], [86586796, 86587104], [86587758, 86587887], [86588200, 86588314], [86588816, 86588888], [86589431, 86589504], [86590376, 86590420], [86591909, 86591966], [86592603, 86592701], [86593109, 86593167]]
ENST00000493362 [[86584112, 86584355], [86585076, 86585701]] None
ENST00000492865 [[86584330, 86584355], [86585076, 86585246], [86585651, 86585734], [86585811, 86586061]] None
ENST00000481820 [[86584410, 86585246], [86585651, 86585734], [86585811, 86585827], [86586187, 86586209]] [[86585066, 86585246], [86585651, 86585734], [86585811, 86585827], [86586187, 86586209]]
ENST00000457156 [[86585227, 86585246], [86585651, 86585734], [86585811, 86585827], [86586187, 86586271], [86586586, 86586641], [86586796, 86587104], [86587758, 86587887], [86588200, 86588314], [86589431, 86589504], [86590376, 86590420], [86591909, 86591966], [86592603, 86592701], [86593109, 86593194], [86593287, 86593367], [86595067, 86595105]] [[86585227, 86585246], [86585651, 86585734], [86585811, 86585827], [86586187, 86586271], [86586586, 86586641], [86586796, 86587104], [86587758, 86587887], [86588200, 86588314], [86589431, 86589504], [86590376, 86590420], [86591909, 86591966], [86592603, 86592701], [86593109, 86593167]]
ENST00000472778 [[86587758, 86587887], [86588200, 86588314], [86588816, 86588888], [86589431, 86589504], [86591909, 86591966], [86592603, 86592701], [86593109, 86593194], [86593287, 86593367], [86595417, 86595531]] [[86589483, 86589504], [86591909, 86591966], [86592603, 86592701], [86593109, 86593167]]
ENST00000376256 [[86588206, 86588314], [86588816, 86588888], [86589431, 86589504], [86590376, 86590685]] None
ENST00000483135 [[86591422, 86591966], [86592603, 86592701], [86593109, 86593194], [86593287, 86593367], [86595417, 86595510]] None
NM_031263 [[86582997, 86584355], [86585076, 86585246], [86585651, 86585734], [86585811, 86585827], [86586187, 86586271], [86586586, 86586641], [86586796, 86587104], [86587758, 86587887], [86588200, 86588314], [86588816, 86588888], [86589431, 86589504], [86590376, 86590420], [86591909, 86591966], [86592603, 86592701], [86593109, 86593194], [86593287, 86593367], [86595067, 86595186]] [[86584321, 86584355], [86585076, 86585246], [86585651, 86585734], [86585811, 86585827], [86586187, 86586271], [86586586, 86586641], [86586796, 86587104], [86587758, 86587887], [86588200, 86588314], [86588816, 86588888], [86589431, 86589504], [86590376, 86590420], [86591909, 86591966], [86592603, 86592701], [86593109, 86593167]]
NM_001318188 [[86582997, 86584295], [86585076, 86585246], [86585651, 86585734], [86585811, 86585827], [86586187, 86586271], [86586586, 86586641], [86586796, 86587104], [86587758, 86587887], [86588200, 86588314], [86588816, 86588888], [86589431, 86589504], [86590376, 86590420], [86591909, 86591966], [86592603, 86592701], [86593109, 86593194], [86593287, 86593367], [86595067, 86595186]] [[86584264, 86584295], [86585076, 86585246], [86585651, 86585734], [86585811, 86585827], [86586187, 86586271], [86586586, 86586641], [86586796, 86587104], [86587758, 86587887], [86588200, 86588314], [86588816, 86588888], [86589431, 86589504], [86590376, 86590420], [86591909, 86591966], [86592603, 86592701], [86593109, 86593167]]
NM_001318187 [[86582997, 86584355], [86585076, 86585246], [86585651, 86585734], [86585811, 86585827], [86586187, 86586271], [86586586, 86586641], [86586796, 86587104], [86587758, 86587887], [86588200, 86588314], [86589431, 86589504], [86590376, 86590420], [86591909, 86591966], [86592603, 86592701], [86593109, 86593194], [86593287, 86593367], [86595067, 86595186]] [[86584321, 86584355], [86585076, 86585246], [86585651, 86585734], [86585811, 86585827], [86586187, 86586271], [86586586, 86586641], [86586796, 86587104], [86587758, 86587887], [86588200, 86588314], [86589431, 86589504], [86590376, 86590420], [86591909, 86591966], [86592603, 86592701], [86593109, 86593167]]
NM_001318186 [[86582997, 86584295], [86585076, 86585246], [86585651, 86585734], [86585811, 86585827], [86586187, 86586271], [86586586, 86586641], [86586796, 86587104], [86587758, 86587887], [86588200, 86588314], [86589431, 86589504], [86590376, 86590420], [86591909, 86591966], [86592603, 86592701], [86593109, 86593194], [86593287, 86593367], [86595067, 86595186]] [[86584264, 86584295], [86585076, 86585246], [86585651, 86585734], [86585811, 86585827], [86586187, 86586271], [86586586, 86586641], [86586796, 86587104], [86587758, 86587887], [86588200, 86588314], [86589431, 86589504], [86590376, 86590420], [86591909, 86591966], [86592603, 86592701], [86593109, 86593167]]
NM_002140 [[86582997, 86584355], [86585076, 86585246], [86585651, 86585734], [86585811, 86585827], [86586187, 86586271], [86586586, 86586641], [86586796, 86587104], [86587758, 86587887], [86588200, 86588314], [86588816, 86588888], [86589431, 86589504], [86590376, 86590420], [86591909, 86591966], [86592603, 86592701], [86593109, 86593194], [86593287, 86593367], [86595417, 86595697]] [[86584321, 86584355], [86585076, 86585246], [86585651, 86585734], [86585811, 86585827], [86586187, 86586271], [86586586, 86586641], [86586796, 86587104], [86587758, 86587887], [86588200, 86588314], [86588816, 86588888], [86589431, 86589504], [86590376, 86590420], [86591909, 86591966], [86592603, 86592701], [86593109, 86593167]]
NM_031262 [[86582997, 86584295], [86585076, 86585246], [86585651, 86585734], [86585811, 86585827], [86586187, 86586271], [86586586, 86586641], [86586796, 86587104], [86587758, 86587887], [86588200, 86588314], [86588816, 86588888], [86589431, 86589504], [86590376, 86590420], [86591909, 86591966], [86592603, 86592701], [86593109, 86593194], [86593287, 86593367], [86595417, 86595697]] [[86584264, 86584295], [86585076, 86585246], [86585651, 86585734], [86585811, 86585827], [86586187, 86586271], [86586586, 86586641], [86586796, 86587104], [86587758, 86587887], [86588200, 86588314], [86588816, 86588888], [86589431, 86589504], [86590376, 86590420], [86591909, 86591966], [86592603, 86592701], [86593109, 86593167]]
Promoter
Chrom Start End Description
chr9 86593238 86593252 CAGE_peak_3_at_HNRNPK_5end
chr9 86594363 86594374 CAGE_peak_23_at_HNRNPK_5end
chr9 86594530 86594564 CAGE_peak_24_at_HNRNPK_5end
chr9 86595113 86595141 CAGE_peak_1_at_HNRNPK_5end
chr9 86595503 86595550 CAGE_peak_2_at_HNRNPK_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
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 GH09I084949 84949495 84952728 0.77 [{'connected_gene': 'NAA35', 'score': 41.2}, {'connected_gene': 'HNRNPK', 'score': 40.23}, {'connected_gene': 'LOC389765', 'score': 22.43}, {'connected_gene': 'ENSG00000235298', 'score': 11.5}, {'connected_gene': 'GC09P085030', 'score': 0.18}, {'connected_gene': 'GC09P084671', 'score': 0.06}, {'connected_gene': 'NTRK2', 'score': 0.06}]
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 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 GH09I083060 83060369 83063775 1.93 [{'connected_gene': 'RASEF', 'score': 550.77}, {'connected_gene': 'HNRNPK', 'score': 16.03}, {'connected_gene': 'PIR40839', 'score': 0.39}]
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 GH09I083972 83972027 83972885 0.38 [{'connected_gene': 'ENSG00000235298', 'score': 550.77}, {'connected_gene': 'HNRNPK', 'score': 0.44}]
chr9 GH09I083974 83974968 83975831 0.51 [{'connected_gene': 'ENSG00000235298', 'score': 0.77}, {'connected_gene': 'HNRNPK', 'score': 0.44}]