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
ENST00000421367 [[101909850, 101912109], [101914616, 101914696], [101915901, 101915991], [101923760, 101923852], [101927104, 101927163], [101933964, 101934038], [101935701, 101935827], [101937889, 101937951], [101938957, 101939004], [101943512, 101943594], [101945270, 101948091]] [[101911887, 101912109], [101914616, 101914696], [101915901, 101915991], [101923760, 101923852], [101927104, 101927163], [101933964, 101934038], [101935701, 101935827], [101937889, 101937951], [101938957, 101939004], [101943512, 101943594], [101945270, 101945383]]
ENST00000407654 [[101911564, 101912109], [101914616, 101914696], [101915901, 101915991], [101923760, 101923852], [101927104, 101927163], [101933964, 101934038], [101935701, 101935827], [101937889, 101937951], [101938957, 101939004], [101943512, 101943594], [101945270, 101945394], [101945718, 101945790]] [[101911887, 101912109], [101914616, 101914696], [101915901, 101915991], [101923760, 101923852], [101927104, 101927163], [101933964, 101934038], [101935701, 101935827], [101937889, 101937951], [101938957, 101939004], [101943512, 101943594], [101945270, 101945383]]
ENST00000370408 [[101914616, 101914696], [101915901, 101915991], [101923760, 101923852], [101927104, 101927163], [101933964, 101934038], [101935701, 101935827], [101937889, 101937951], [101938957, 101939004], [101943512, 101943594], [101945270, 101945394], [101945660, 101945786]] [[101914616, 101914696], [101915901, 101915991], [101923760, 101923852], [101927104, 101927163], [101933964, 101934038], [101935701, 101935827], [101937889, 101937951], [101938957, 101939004], [101943512, 101943594], [101945270, 101945383]]
NM_006459 [[101909846, 101912109], [101914616, 101914696], [101915901, 101915991], [101923760, 101923852], [101927104, 101927163], [101933964, 101934038], [101935701, 101935827], [101937889, 101937951], [101938957, 101939004], [101943512, 101943594], [101945270, 101945734]] [[101911887, 101912109], [101914616, 101914696], [101915901, 101915991], [101923760, 101923852], [101927104, 101927163], [101933964, 101934038], [101935701, 101935827], [101937889, 101937951], [101938957, 101939004], [101943512, 101943594], [101945270, 101945383]]
NM_001347859 [[101909846, 101912109], [101914616, 101914696], [101915901, 101915991], [101923760, 101923852], [101927104, 101927163], [101933964, 101934038], [101935701, 101935827], [101937889, 101937951], [101938957, 101939004], [101943512, 101943594], [101945270, 101945394], [101945555, 101945734]] [[101911887, 101912109], [101914616, 101914696], [101915901, 101915991], [101923760, 101923852], [101927104, 101927163], [101933964, 101934038], [101935701, 101935827], [101937889, 101937951], [101938957, 101939004], [101943512, 101943594], [101945270, 101945383]]
NR_144760 [[101909846, 101912109], [101914616, 101914696], [101915901, 101915991], [101923760, 101923852], [101933964, 101934038], [101935701, 101935827], [101937889, 101937951], [101938957, 101939004], [101943512, 101943594], [101945270, 101945394], [101945555, 101945734]] None
NR_144759 [[101909846, 101912109], [101914616, 101914696], [101915901, 101915991], [101918740, 101918812], [101923760, 101923852], [101927104, 101927163], [101933964, 101934038], [101935701, 101935827], [101937889, 101937951], [101938957, 101939004], [101943512, 101943594], [101945270, 101945394], [101945660, 101945734]] None
NM_001347861 [[101909846, 101912109], [101914616, 101914696], [101915901, 101915991], [101923760, 101923852], [101927104, 101927163], [101933964, 101934038], [101935701, 101935827], [101937889, 101937951], [101938957, 101939004], [101943512, 101943594], [101945270, 101945394], [101945660, 101945734]] [[101911887, 101912109], [101914616, 101914696], [101915901, 101915991], [101923760, 101923852], [101927104, 101927163], [101933964, 101934038], [101935701, 101935827], [101937889, 101937951], [101938957, 101939004], [101943512, 101943594], [101945270, 101945383]]
NM_001347860 [[101909846, 101912109], [101914616, 101914696], [101915901, 101915991], [101923760, 101923852], [101927104, 101927163], [101933964, 101934038], [101935701, 101935827], [101937889, 101937951], [101938957, 101939004], [101943512, 101943594], [101945270, 101945391], [101945660, 101945734]] [[101911887, 101912109], [101914616, 101914696], [101915901, 101915991], [101923760, 101923852], [101927104, 101927163], [101933964, 101934038], [101935701, 101935827], [101937889, 101937951], [101938957, 101939004], [101943512, 101943594], [101945270, 101945383]]
NR_144758 [[101909846, 101912109], [101914616, 101914696], [101915901, 101915991], [101918740, 101918812], [101923760, 101923852], [101927104, 101927163], [101933964, 101934038], [101935701, 101935827], [101937889, 101937951], [101938957, 101939004], [101943512, 101943594], [101945270, 101945394], [101945718, 101945814]] None
NM_001100626 [[101909846, 101912109], [101914616, 101914696], [101915901, 101915991], [101923760, 101923852], [101927104, 101927163], [101933964, 101934038], [101935701, 101935827], [101937889, 101937951], [101938957, 101939004], [101943512, 101943594], [101945270, 101945394], [101945718, 101945814]] [[101911887, 101912109], [101914616, 101914696], [101915901, 101915991], [101923760, 101923852], [101927104, 101927163], [101933964, 101934038], [101935701, 101935827], [101937889, 101937951], [101938957, 101939004], [101943512, 101943594], [101945270, 101945383]]
NR_144756 [[101909846, 101912109], [101914616, 101914696], [101915901, 101915991], [101923760, 101923852], [101933964, 101934038], [101935701, 101935827], [101937889, 101937951], [101938957, 101939004], [101943512, 101943594], [101945270, 101945394], [101945718, 101945814]] None
NR_144757 [[101909846, 101912109], [101914616, 101914696], [101915901, 101915991], [101918740, 101918812], [101923760, 101923852], [101927104, 101927163], [101933964, 101934038], [101935701, 101935827], [101943512, 101943594], [101945270, 101945394], [101945718, 101945814]] None
NM_001347858 [[101909846, 101912109], [101914616, 101914696], [101915901, 101915991], [101923760, 101923852], [101927104, 101927163], [101933964, 101934038], [101935701, 101935827], [101943512, 101943594], [101945270, 101945394], [101945718, 101945814]] [[101911887, 101912109], [101914616, 101914696], [101915901, 101915991], [101923760, 101923852], [101927104, 101927163], [101933964, 101933988]]
NR_144755 [[101909846, 101912109], [101914616, 101914696], [101915901, 101915991], [101918740, 101918812], [101923760, 101923852], [101927104, 101927163], [101933964, 101934038], [101935701, 101935827], [101937889, 101937951], [101938957, 101939004], [101945270, 101945394], [101945718, 101945814]] None
NM_001347856 [[101909846, 101912109], [101914616, 101914696], [101915901, 101915991], [101923760, 101923852], [101927104, 101927163], [101933964, 101934038], [101935701, 101935827], [101937889, 101937951], [101938957, 101939004], [101945270, 101945394], [101945718, 101945814]] [[101911887, 101912109], [101914616, 101914696], [101915901, 101915991], [101923760, 101923852], [101927104, 101927163], [101933964, 101934038], [101935701, 101935827], [101937889, 101937941]]
NM_001347857 [[101909846, 101912109], [101914616, 101914696], [101915901, 101915991], [101923760, 101923852], [101927104, 101927163], [101933964, 101934038], [101935701, 101935827], [101937889, 101937951], [101938957, 101939004], [101943512, 101943594], [101945270, 101945391], [101945718, 101945814]] [[101911887, 101912109], [101914616, 101914696], [101915901, 101915991], [101923760, 101923852], [101927104, 101927163], [101933964, 101934038], [101935701, 101935827], [101937889, 101937951], [101938957, 101939004], [101943512, 101943594], [101945270, 101945383]]
Promoter
Chrom Start End Description
chr10 101945375 101945386 CAGE_peak_9_at_ERLIN1_5end
chr10 101945654 101945676 CAGE_peak_5_at_ERLIN1_5end
chr10 101945681 101945710 CAGE_peak_3_at_ERLIN1_5end
chr10 101945716 101945735 CAGE_peak_2_at_ERLIN1_5end
chr10 101945750 101945770 CAGE_peak_4_at_ERLIN1_5end
chr10 101945771 101945795 CAGE_peak_1_at_ERLIN1_5end
chr10 101945808 101945819 CAGE_peak_6_at_ERLIN1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I100161 100161815 100164845 0.66 [{'connected_gene': 'CWF19L1', 'score': 34.57}, {'connected_gene': 'BLOC1S2', 'score': 19.75}, {'connected_gene': 'ERLIN1', 'score': 16.47}, {'connected_gene': 'ENSG00000236308', 'score': 11.35}, {'connected_gene': 'SPCS2P2', 'score': 0.37}]
chr10 GH10I100169 100169474 100176929 0.68 [{'connected_gene': 'CWF19L1', 'score': 48.2}, {'connected_gene': 'BLOC1S2', 'score': 21.42}, {'connected_gene': 'ERLIN1', 'score': 5.84}, {'connected_gene': 'SEC31B', 'score': 5.56}, {'connected_gene': 'SPCS2P2', 'score': 0.31}]
chr10 GH10I100177 100177085 100177868 0.2 [{'connected_gene': 'CWF19L1', 'score': 14.45}, {'connected_gene': 'ERLIN1', 'score': 0.39}, {'connected_gene': 'SPCS2P2', 'score': 0.29}]
chr10 GH10I100156 100156817 100159879 0.67 [{'connected_gene': 'CWF19L1', 'score': 31.86}, {'connected_gene': 'ENSG00000236308', 'score': 22.97}, {'connected_gene': 'EBAG9P1', 'score': 21.09}, {'connected_gene': 'PHBP9', 'score': 19.26}, {'connected_gene': 'ERLIN1', 'score': 16.15}, {'connected_gene': 'DNMBP', 'score': 11.78}, {'connected_gene': 'LZTS2', 'score': 11.43}, {'connected_gene': 'CHUK', 'score': 11.07}, {'connected_gene': 'LOC101927300', 'score': 10.86}, {'connected_gene': 'SLF2', 'score': 10.29}, {'connected_gene': 'SEC31B', 'score': 9.98}, {'connected_gene': 'BLOC1S2', 'score': 8.48}, {'connected_gene': 'SPCS2P2', 'score': 0.39}]
chr10 GH10I100246 100246875 100246934 0.5 [{'connected_gene': 'CWF19L1', 'score': 561.53}, {'connected_gene': 'PHBP9', 'score': 550.77}, {'connected_gene': 'BLOC1S2', 'score': 11.47}, {'connected_gene': 'ENSG00000236308', 'score': 10.32}, {'connected_gene': 'ERLIN1', 'score': 10.32}, {'connected_gene': 'SNORA12', 'score': 0.44}, {'connected_gene': 'GC10M100239', 'score': 0.44}]
chr10 GH10I100307 100307736 100308064 0.89 [{'connected_gene': 'BLOC1S2', 'score': 21.85}, {'connected_gene': 'CWF19L1', 'score': 12.05}, {'connected_gene': 'ENSG00000231188', 'score': 11.36}, {'connected_gene': 'SCD', 'score': 11.36}, {'connected_gene': 'MRPL43', 'score': 4.61}, {'connected_gene': 'ERLIN1', 'score': 1.81}, {'connected_gene': 'DNMBP', 'score': 1.23}, {'connected_gene': 'PKD2L1', 'score': 0.28}]
chr10 GH10I100290 100290801 100293274 0.92 [{'connected_gene': 'BLOC1S2', 'score': 27.32}, {'connected_gene': 'CWF19L1', 'score': 11.47}, {'connected_gene': 'RNU6-422P', 'score': 11.43}, {'connected_gene': 'ERLIN1', 'score': 4.72}, {'connected_gene': 'ENSG00000231188', 'score': 0.23}, {'connected_gene': 'PKD2L1', 'score': 0.23}]
chr10 GH10I100283 100283748 100289220 2.06 [{'connected_gene': 'BLOC1S2', 'score': 587.0}, {'connected_gene': 'CWF19L1', 'score': 33.33}, {'connected_gene': 'EBAG9P1', 'score': 16.54}, {'connected_gene': 'RNU6-422P', 'score': 11.44}, {'connected_gene': 'SLC25A28', 'score': 10.91}, {'connected_gene': 'MRPL43', 'score': 10.17}, {'connected_gene': 'LZTS2', 'score': 9.77}, {'connected_gene': 'ERLIN1', 'score': 4.5}, {'connected_gene': 'PKD2L1', 'score': 0.21}]
chr10 GH10I100148 100148284 100150024 1.36 [{'connected_gene': 'BLOC1S2', 'score': 21.61}, {'connected_gene': 'ERLIN1', 'score': 13.53}, {'connected_gene': 'ENSG00000236308', 'score': 11.41}, {'connected_gene': 'CPN1', 'score': 10.75}, {'connected_gene': 'RNU6-422P', 'score': 10.0}, {'connected_gene': 'CWF19L1', 'score': 9.98}, {'connected_gene': 'CHUK', 'score': 1.61}, {'connected_gene': 'DNMBP', 'score': 1.57}, {'connected_gene': 'SPCS2P2', 'score': 0.44}]
chr10 GH10I099993 99993202 99997959 1.62 [{'connected_gene': 'DNMBP', 'score': 31.58}, {'connected_gene': 'BLOC1S2', 'score': 10.11}, {'connected_gene': 'CHUK', 'score': 2.71}, {'connected_gene': 'CWF19L1', 'score': 2.18}, {'connected_gene': 'ENTPD7', 'score': 1.78}, {'connected_gene': 'ERLIN1', 'score': 1.15}, {'connected_gene': 'DNMBP-AS1', 'score': 0.2}]
chr10 GH10I100166 100166864 100168678 0.51 [{'connected_gene': 'ERLIN1', 'score': 16.37}, {'connected_gene': 'ENSG00000236308', 'score': 11.24}, {'connected_gene': 'SPCS2P2', 'score': 0.34}]
chr10 GH10I100178 100178830 100187512 2.49 [{'connected_gene': 'ERLIN1', 'score': 561.74}, {'connected_gene': 'BLOC1S2', 'score': 38.65}, {'connected_gene': 'CWF19L1', 'score': 34.81}, {'connected_gene': 'EBAG9P1', 'score': 28.79}, {'connected_gene': 'PHBP9', 'score': 24.66}, {'connected_gene': 'MRPL43', 'score': 23.45}, {'connected_gene': 'CHUK', 'score': 21.68}, {'connected_gene': 'ENSG00000236308', 'score': 19.49}, {'connected_gene': 'ENSG00000272572', 'score': 12.08}, {'connected_gene': 'LOC101927300', 'score': 9.79}, {'connected_gene': 'DNMBP', 'score': 9.78}, {'connected_gene': 'SPCS2P2', 'score': 0.28}]
chr10 GH10I100153 100153544 100153693 0.58 [{'connected_gene': 'ERLIN1', 'score': 10.53}, {'connected_gene': 'ENSG00000236308', 'score': 10.51}, {'connected_gene': 'RNU6-422P', 'score': 10.0}, {'connected_gene': 'CWF19L1', 'score': 9.99}, {'connected_gene': 'SPCS2P2', 'score': 0.44}]

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