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
ENST00000241014 [[45907201, 45907472], [45919635, 45919741], [45921688, 45922003], [45923530, 45923612], [45923922, 45924735], [45924915, 45924991], [45925539, 45925712], [45926005, 45926115], [45926268, 45926385], [45926521, 45926592], [45926701, 45926800], [45927199, 45928016]] [[45907371, 45907472], [45919635, 45919741], [45921688, 45922003], [45923530, 45923612], [45923922, 45924735], [45924915, 45924991], [45925539, 45925712], [45926005, 45926115], [45926268, 45926385], [45926521, 45926592], [45926701, 45926800], [45927199, 45927272]]
ENST00000395629 [[45918100, 45918501], [45919635, 45919741], [45921688, 45922003], [45923530, 45923612], [45923922, 45924735], [45924915, 45924991], [45925539, 45925712], [45926005, 45926115], [45926268, 45926385], [45926521, 45926592], [45926701, 45926800], [45927199, 45928016]] [[45918430, 45918501], [45919635, 45919741], [45921688, 45922003], [45923530, 45923612], [45923922, 45924735], [45924915, 45924991], [45925539, 45925712], [45926005, 45926115], [45926268, 45926385], [45926521, 45926592], [45926701, 45926800], [45927199, 45927272]]
ENST00000497090 [[45923483, 45923612], [45923922, 45924294]] None
NM_005456 [[45907046, 45907472], [45919635, 45919741], [45921688, 45922003], [45923530, 45923612], [45923922, 45924735], [45924915, 45924991], [45925539, 45925712], [45926005, 45926115], [45926268, 45926385], [45926521, 45926592], [45926701, 45926800], [45927199, 45928016]] [[45907371, 45907472], [45919635, 45919741], [45921688, 45922003], [45923530, 45923612], [45923922, 45924735], [45924915, 45924991], [45925539, 45925712], [45926005, 45926115], [45926268, 45926385], [45926521, 45926592], [45926701, 45926800], [45927199, 45927272]]
Promoter
Chrom Start End Description
chr11 45907143 45907152 CAGE_peak_13_at_MAPK8IP1_5end
chr11 45907154 45907165 CAGE_peak_6_at_MAPK8IP1_5end
chr11 45907177 45907233 CAGE_peak_2_at_MAPK8IP1_5end
chr11 45907236 45907257 CAGE_peak_3_at_MAPK8IP1_5end
chr11 45907316 45907323 CAGE_peak_16_at_MAPK8IP1_5end
chr11 45907328 45907337 CAGE_peak_7_at_MAPK8IP1_5end
chr11 45907351 45907360 CAGE_peak_12_at_MAPK8IP1_5end
chr11 45918092 45918107 CAGE_peak_10_at_MAPK8IP1_5end
chr11 45918158 45918189 CAGE_peak_8_at_MAPK8IP1_5end
chr11 45921467 45921491 CAGE_peak_4_at_MAPK8IP1_5end
chr11 45921498 45921525 CAGE_peak_5_at_MAPK8IP1_5end
chr11 45921544 45921554 CAGE_peak_9_at_MAPK8IP1_5end
chr11 45921651 45921708 CAGE_peak_1_at_MAPK8IP1_5end
chr11 45923497 45923522 CAGE_peak_11_at_MAPK8IP1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I045875 45875057 45877516 0.2 [{'connected_gene': 'MAPK8IP1', 'score': 16.35}, {'connected_gene': 'DKFZp779M0652', 'score': 6.4}, {'connected_gene': 'CRY2', 'score': 0.31}]
chr11 GH11I045861 45861618 45862451 0.38 [{'connected_gene': 'MAPK8IP1', 'score': 17.45}, {'connected_gene': 'ENSG00000255498', 'score': 11.42}, {'connected_gene': 'C11orf94', 'score': 11.4}, {'connected_gene': 'LARGE2', 'score': 11.38}, {'connected_gene': 'PEX16', 'score': 11.38}, {'connected_gene': 'SLC35C1', 'score': 7.57}, {'connected_gene': 'CRY2', 'score': 0.39}]
chr11 GH11I045854 45854992 45861211 1.14 [{'connected_gene': 'MAPK8IP1', 'score': 29.27}, {'connected_gene': 'ENSG00000255498', 'score': 11.57}, {'connected_gene': 'C11orf94', 'score': 11.57}, {'connected_gene': 'LARGE2', 'score': 11.54}, {'connected_gene': 'PEX16', 'score': 11.54}, {'connected_gene': 'DKFZp779M0652', 'score': 11.47}, {'connected_gene': 'SLC35C1', 'score': 7.83}, {'connected_gene': 'CRY2', 'score': 0.39}]
chr11 GH11I045868 45868892 45869957 0.2 [{'connected_gene': 'MAPK8IP1', 'score': 15.68}, {'connected_gene': 'CRY2', 'score': 11.78}, {'connected_gene': 'SLC35C1', 'score': 8.09}]
chr11 GH11I045872 45872059 45873781 1.03 [{'connected_gene': 'MAPK8IP1', 'score': 19.03}, {'connected_gene': 'CRY2', 'score': 12.18}, {'connected_gene': 'SLC35C1', 'score': 5.03}]
chr11 GH11I045821 45821683 45824983 0.86 [{'connected_gene': 'MAPK8IP1', 'score': 15.89}, {'connected_gene': 'CRY2', 'score': 11.72}, {'connected_gene': 'DKFZp779M0652', 'score': 7.1}, {'connected_gene': 'ENSG00000255447', 'score': 0.39}]
chr11 GH11I045842 45842750 45844319 1.36 [{'connected_gene': 'MAPK8IP1', 'score': 17.62}, {'connected_gene': 'CRY2', 'score': 0.77}, {'connected_gene': 'ENSG00000255447', 'score': 0.29}]
chr11 GH11I045851 45851610 45853059 1.09 [{'connected_gene': 'MAPK8IP1', 'score': 29.26}, {'connected_gene': 'CRY2', 'score': 0.44}]
chr11 GH11I045885 45885201 45886459 1.84 [{'connected_gene': 'MAPK8IP1', 'score': 550.77}, {'connected_gene': 'ENSG00000255498', 'score': 0.34}]
chr11 GH11I046246 46246573 46251418 1.63 [{'connected_gene': 'CREB3L1', 'score': 14.47}, {'connected_gene': 'LINC02489', 'score': 12.52}, {'connected_gene': 'LARGE2', 'score': 6.75}, {'connected_gene': 'MAPK8IP1', 'score': 4.3}, {'connected_gene': 'GC11P046245', 'score': 0.77}]
chr11 GH11I045498 45498436 45498853 0.22 [{'connected_gene': 'CHST1', 'score': 10.2}, {'connected_gene': 'LOC101928812', 'score': 4.74}, {'connected_gene': 'MAPK8IP1', 'score': 1.38}, {'connected_gene': 'ENSG00000255041', 'score': 0.37}, {'connected_gene': 'LOC105376654', 'score': 0.26}, {'connected_gene': 'ENSG00000254651', 'score': 0.15}]
chr11 GH11I045895 45895757 45897671 0.87 [{'connected_gene': 'SLC35C1', 'score': 5.58}, {'connected_gene': 'ENSG00000255498', 'score': 0.44}, {'connected_gene': 'MAPK8IP1', 'score': 0.39}]
chr11 GH11I046699 46699600 46702201 2.32 [{'connected_gene': 'ZNF408', 'score': 585.02}, {'connected_gene': 'ARHGAP1', 'score': 564.25}, {'connected_gene': 'ENSG00000270060', 'score': 38.0}, {'connected_gene': 'AMBRA1', 'score': 34.74}, {'connected_gene': 'DDB2', 'score': 29.45}, {'connected_gene': 'CELF1', 'score': 21.25}, {'connected_gene': 'KBTBD4', 'score': 19.97}, {'connected_gene': 'ARFGAP2', 'score': 19.38}, {'connected_gene': 'C1QTNF4', 'score': 12.92}, {'connected_gene': 'C11orf49', 'score': 10.92}, {'connected_gene': 'MAPK8IP1', 'score': 10.34}, {'connected_gene': 'PACSIN3', 'score': 9.43}, {'connected_gene': 'MDK', 'score': 6.24}, {'connected_gene': 'LRP4', 'score': 5.84}, {'connected_gene': 'ATG13', 'score': 5.41}, {'connected_gene': 'F2', 'score': 0.37}]
chr11 GH11I045846 45846163 45849359 2.26 [{'connected_gene': 'CRY2', 'score': 550.77}, {'connected_gene': 'MAPK8IP1', 'score': 17.41}, {'connected_gene': 'SLC35C1', 'score': 5.86}]
chr11 GH11I044976 44976293 44981685 1.53 [{'connected_gene': 'LOC101928812', 'score': 21.41}, {'connected_gene': 'EXT2', 'score': 11.58}, {'connected_gene': 'MAPK8IP1', 'score': 10.34}, {'connected_gene': 'SYT13', 'score': 1.59}, {'connected_gene': 'TSPAN18', 'score': 1.24}, {'connected_gene': 'GC11P044981', 'score': 0.77}, {'connected_gene': 'LOC221122', 'score': 0.44}]
chr11 GH11I045898 45898799 45901474 1.6 [{'connected_gene': 'RPS10P19', 'score': 13.13}, {'connected_gene': 'MAPK8IP1', 'score': 3.46}, {'connected_gene': 'DGKZ', 'score': 2.2}, {'connected_gene': 'ENSG00000255498', 'score': 0.44}]
chr11 GH11I045904 45904321 45905257 0.96 [{'connected_gene': 'ENSG00000255498', 'score': 550.77}, {'connected_gene': 'MAPK8IP1', 'score': 0.37}]
chr11 GH11I045662 45662601 45663968 1.05 [{'connected_gene': 'PIR58767', 'score': 550.77}, {'connected_gene': 'CHST1', 'score': 9.44}, {'connected_gene': 'LARGE2', 'score': 4.54}, {'connected_gene': 'MAPK8IP1', 'score': 2.64}, {'connected_gene': 'CRY2', 'score': 1.69}, {'connected_gene': 'SYT13', 'score': 1.63}, {'connected_gene': 'GC11M045649', 'score': 0.77}, {'connected_gene': 'PIRC51', 'score': 0.77}]
chr11 GH11I046241 46241106 46245001 1.82 [{'connected_gene': 'GC11P046245', 'score': 550.77}, {'connected_gene': 'ENSG00000270060', 'score': 62.82}, {'connected_gene': 'DDB2', 'score': 51.43}, {'connected_gene': 'ZNF408', 'score': 41.17}, {'connected_gene': 'RPS10P19', 'score': 31.29}, {'connected_gene': 'AMBRA1', 'score': 29.42}, {'connected_gene': 'LOC101928812', 'score': 29.05}, {'connected_gene': 'MDK', 'score': 20.97}, {'connected_gene': 'CREB3L1', 'score': 12.3}, {'connected_gene': 'LINC02489', 'score': 12.3}, {'connected_gene': 'MAPK8IP1', 'score': 10.88}, {'connected_gene': 'ARFGAP2', 'score': 10.32}, {'connected_gene': 'LRP4-AS1', 'score': 9.76}, {'connected_gene': 'ATG13', 'score': 4.91}, {'connected_gene': 'SLC35C1', 'score': 4.35}, {'connected_gene': 'LRP4', 'score': 3.66}, {'connected_gene': 'ENSG00000254639', 'score': 0.77}]
chr11 GH11I045905 45905710 45908581 1.19 [{'connected_gene': 'ENSG00000255498', 'score': 550.77}, {'connected_gene': 'C11orf94', 'score': 550.77}, {'connected_gene': 'SLC35C1', 'score': 4.3}, {'connected_gene': 'MAPK8IP1', 'score': 0.34}]
chr11 GH11I045879 45879600 45882667 1.11 [{'connected_gene': 'ENSG00000255498', 'score': 12.99}, {'connected_gene': 'C11orf94', 'score': 12.99}, {'connected_gene': 'LARGE2', 'score': 12.95}, {'connected_gene': 'PEX16', 'score': 12.95}, {'connected_gene': 'MAPK8IP1', 'score': 10.52}, {'connected_gene': 'DKFZp779M0652', 'score': 6.39}, {'connected_gene': 'CRY2', 'score': 0.29}]
chr11 GH11I045865 45865616 45866813 0.2 [{'connected_gene': 'ENSG00000255498', 'score': 11.42}, {'connected_gene': 'C11orf94', 'score': 11.42}, {'connected_gene': 'LARGE2', 'score': 11.39}, {'connected_gene': 'PEX16', 'score': 11.39}, {'connected_gene': 'DKFZp779M0652', 'score': 7.49}, {'connected_gene': 'CRY2', 'score': 0.37}, {'connected_gene': 'MAPK8IP1', 'score': 0.37}]
chr11 GH11I045862 45862904 45863978 0.43 [{'connected_gene': 'ENSG00000255498', 'score': 11.42}, {'connected_gene': 'C11orf94', 'score': 11.42}, {'connected_gene': 'LARGE2', 'score': 11.38}, {'connected_gene': 'PEX16', 'score': 11.38}, {'connected_gene': 'CRY2', 'score': 0.37}, {'connected_gene': 'MAPK8IP1', 'score': 0.34}]
chr11 GH11I045524 45524387 45528794 0.6 [{'connected_gene': 'GC11M045526', 'score': 550.77}, {'connected_gene': 'LOC105376654', 'score': 6.9}, {'connected_gene': 'MAPK8IP1', 'score': 5.86}, {'connected_gene': 'CHST1', 'score': 5.61}, {'connected_gene': 'HMGN2P37', 'score': 0.39}]