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
ENST00000553492 [[102495359, 102495490], [102539254, 102539340], [102541002, 102541122], [102566186, 102566356]] None
ENST00000361791 [[102505467, 102506060], [102509502, 102509671], [102510450, 102510648], [102539254, 102539340], [102541002, 102541122], [102566186, 102566362], [102568866, 102568993], [102584404, 102584506], [102584658, 102584741], [102586765, 102586852], [102587299, 102589074]] [[102506017, 102506060], [102509502, 102509671], [102510450, 102510648], [102539254, 102539340], [102541002, 102541122], [102566186, 102566362], [102568866, 102568993], [102584404, 102584506], [102584658, 102584741], [102586765, 102586852]]
ENST00000355243 [[102505467, 102506060], [102509502, 102509671], [102510450, 102510648], [102539254, 102539340], [102541002, 102541122], [102566186, 102566362], [102568866, 102568993], [102584404, 102584506], [102586765, 102586852], [102587299, 102589697]] [[102506017, 102506060], [102509502, 102509671], [102510450, 102510648], [102539254, 102539340], [102541002, 102541122], [102566186, 102566362], [102568866, 102568993], [102584404, 102584506], [102586765, 102586852], [102587299, 102587376]]
ENST00000428433 [[102505467, 102506060], [102509502, 102509671], [102510450, 102510648], [102539254, 102539340], [102541002, 102541122], [102546699, 102546768], [102566186, 102566362], [102568866, 102568993], [102584404, 102584506], [102586765, 102586852], [102587299, 102589698]] [[102506017, 102506060], [102509502, 102509671], [102510450, 102510648], [102539254, 102539340], [102541002, 102541122], [102546699, 102546768], [102566186, 102566362], [102568866, 102568993], [102584404, 102584506], [102586765, 102586852], [102587299, 102587376]]
ENST00000370296 [[102505467, 102506060], [102509502, 102509671], [102510450, 102510648], [102539254, 102539340], [102541002, 102541122], [102546699, 102546768], [102566186, 102566362], [102568866, 102568993], [102584404, 102584506], [102584658, 102584741], [102586765, 102586852], [102587299, 102589698]] [[102506017, 102506060], [102509502, 102509671], [102510450, 102510648], [102539254, 102539340], [102541002, 102541122], [102546699, 102546768], [102566186, 102566362], [102568866, 102568993], [102584404, 102584506], [102584658, 102584741], [102586765, 102586852]]
ENST00000554363 [[102505935, 102506060], [102539254, 102539340], [102541002, 102541122], [102566186, 102566362], [102568866, 102568941]] [[102506017, 102506060], [102539254, 102539319]]
ENST00000556085 [[102505976, 102506060], [102509505, 102509671], [102510450, 102510648], [102539254, 102539340], [102541002, 102541122], [102566186, 102566362], [102568866, 102568993], [102584404, 102584506], [102586765, 102586852], [102587299, 102587406]] [[102506017, 102506060], [102509505, 102509671], [102510450, 102510648], [102539254, 102539340], [102541002, 102541122], [102566186, 102566362], [102568866, 102568993], [102584404, 102584506], [102586765, 102586852], [102587299, 102587376]]
ENST00000427256 [[102505984, 102506060], [102509502, 102509671], [102510450, 102510648], [102539254, 102539340], [102541002, 102541122], [102546699, 102546727]] [[102506017, 102506060], [102509502, 102509671], [102510450, 102510648], [102539254, 102539340], [102541002, 102541122], [102546699, 102546727]]
ENST00000483202 [[102506020, 102506060], [102506771, 102507776], [102509502, 102509673]] None
ENST00000554172 [[102508608, 102509671], [102510450, 102510648], [102539254, 102539340], [102541002, 102541098], [102566186, 102566362], [102568866, 102568995]] [[102509447, 102509671], [102510450, 102510648], [102539254, 102539340], [102541002, 102541098], [102566186, 102566362], [102568866, 102568995]]
NM_001304569 [[102495465, 102495490], [102505949, 102506060], [102509502, 102509671], [102510450, 102510648], [102539254, 102539340], [102541002, 102541122], [102566186, 102566362], [102568866, 102568993], [102584404, 102584506], [102586765, 102586852], [102587299, 102589698]] [[102495465, 102495490], [102505949, 102506060], [102509502, 102509671], [102510450, 102510648], [102539254, 102539340], [102541002, 102541122], [102566186, 102566362], [102568866, 102568993], [102584404, 102584506], [102586765, 102586852], [102587299, 102587376]]
NM_003989 [[102505467, 102506060], [102509502, 102509671], [102510450, 102510648], [102539254, 102539340], [102541002, 102541122], [102566186, 102566362], [102568866, 102568993], [102584404, 102584506], [102586765, 102586852], [102587318, 102589698]] [[102506017, 102506060], [102509502, 102509671], [102510450, 102510648], [102539254, 102539340], [102541002, 102541122], [102566186, 102566362], [102568866, 102568993], [102584404, 102584506], [102586765, 102586852], [102587318, 102587440]]
NM_000278 [[102505467, 102506060], [102509502, 102509671], [102510450, 102510648], [102539254, 102539340], [102541002, 102541122], [102566186, 102566362], [102568866, 102568993], [102584404, 102584506], [102586765, 102586852], [102587299, 102589698]] [[102506017, 102506060], [102509502, 102509671], [102510450, 102510648], [102539254, 102539340], [102541002, 102541122], [102566186, 102566362], [102568866, 102568993], [102584404, 102584506], [102586765, 102586852], [102587299, 102587376]]
NM_003988 [[102505467, 102506060], [102509502, 102509671], [102510450, 102510648], [102539254, 102539340], [102541002, 102541122], [102566186, 102566362], [102568866, 102568993], [102584404, 102584506], [102584658, 102584741], [102586765, 102586852], [102587299, 102589698]] [[102506017, 102506060], [102509502, 102509671], [102510450, 102510648], [102539254, 102539340], [102541002, 102541122], [102566186, 102566362], [102568866, 102568993], [102584404, 102584506], [102584658, 102584741], [102586765, 102586852]]
NM_003990 [[102505467, 102506060], [102509502, 102509671], [102510450, 102510648], [102539254, 102539340], [102541002, 102541122], [102546699, 102546768], [102566186, 102566362], [102568866, 102568993], [102584404, 102584506], [102586765, 102586852], [102587318, 102589698]] [[102506017, 102506060], [102509502, 102509671], [102510450, 102510648], [102539254, 102539340], [102541002, 102541122], [102546699, 102546768], [102566186, 102566362], [102568866, 102568993], [102584404, 102584506], [102586765, 102586852], [102587318, 102587440]]
NM_003987 [[102505467, 102506060], [102509502, 102509671], [102510450, 102510648], [102539254, 102539340], [102541002, 102541122], [102546699, 102546768], [102566186, 102566362], [102568866, 102568993], [102584404, 102584506], [102586765, 102586852], [102587299, 102589698]] [[102506017, 102506060], [102509502, 102509671], [102510450, 102510648], [102539254, 102539340], [102541002, 102541122], [102546699, 102546768], [102566186, 102566362], [102568866, 102568993], [102584404, 102584506], [102586765, 102586852], [102587299, 102587376]]
Promoter
Chrom Start End Description
chr10 102495136 102495146 CAGE_peak_8_at_PAX2_5end
chr10 102495147 102495159 CAGE_peak_4_at_PAX2_5end
chr10 102505147 102505162 CAGE_peak_9_at_PAX2_5end
chr10 102505297 102505302 CAGE_peak_11_at_PAX2_5end
chr10 102505312 102505320 CAGE_peak_6_at_PAX2_5end
chr10 102505327 102505344 CAGE_peak_1_at_PAX2_5end
chr10 102505493 102505546 CAGE_peak_2_at_PAX2_5end
chr10 102505552 102505563 CAGE_peak_5_at_PAX2_5end
chr10 102505655 102505689 CAGE_peak_10_at_PAX2_5end
chr10 102505901 102505907 CAGE_peak_13_at_PAX2_5end
chr10 102505946 102505949 CAGE_peak_14_at_PAX2_5end
chr10 102505954 102505973 CAGE_peak_3_at_PAX2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I100731 100731905 100732092 0.62 [{'connected_gene': 'MRPL43', 'score': 4.7}, {'connected_gene': 'PAX2', 'score': 3.23}, {'connected_gene': 'GC10M100721', 'score': 0.44}]
chr10 GH10I100847 100847624 100847713 0.75 [{'connected_gene': 'MRPL43', 'score': 10.26}, {'connected_gene': 'GC10M100747', 'score': 0.37}, {'connected_gene': 'PAX2', 'score': 0.14}]
chr10 GH10I100748 100744924 100745609 0.95 [{'connected_gene': 'MRPL43', 'score': 4.69}, {'connected_gene': 'PAX2', 'score': 0.44}, {'connected_gene': 'GC10M100747', 'score': 0.13}]
chr10 GH10I100786 100786833 100788338 0.8 [{'connected_gene': 'SCD', 'score': 4.86}, {'connected_gene': 'PAX2', 'score': 0.23}, {'connected_gene': 'GC10M100747', 'score': 0.18}]
chr10 GH10I100880 100880832 100884710 1.22 [{'connected_gene': 'SLF2', 'score': 10.99}, {'connected_gene': 'PAX2', 'score': 10.08}, {'connected_gene': 'ENSG00000272572', 'score': 7.52}, {'connected_gene': 'SFXN3', 'score': 4.63}, {'connected_gene': 'GC10P100864', 'score': 0.37}, {'connected_gene': 'ENSG00000222072', 'score': 0.34}]
chr10 GH10I100728 100728590 100731441 1.57 [{'connected_gene': 'PAX2', 'score': 13.52}, {'connected_gene': 'MRPL43', 'score': 13.38}, {'connected_gene': 'SEC31B', 'score': 10.97}, {'connected_gene': 'GC10M100721', 'score': 0.44}]
chr10 GH10I100735 100735744 100735893 0.63 [{'connected_gene': 'PAX2', 'score': 550.77}, {'connected_gene': 'MRPL43', 'score': 4.27}, {'connected_gene': 'GC10M100747', 'score': 0.13}]
chr10 GH10I100633 100633769 100633787 0.23 [{'connected_gene': 'PAX2', 'score': 11.65}, {'connected_gene': 'WNT8B', 'score': 1.4}, {'connected_gene': 'SEMA4G', 'score': 1.25}, {'connected_gene': 'ENSG00000274660', 'score': 0.29}, {'connected_gene': 'NDUFB8', 'score': 0.15}]
chr10 GH10I100826 100826103 100829939 0.88 [{'connected_gene': 'PAX2', 'score': 11.03}, {'connected_gene': 'SCD', 'score': 4.91}, {'connected_gene': 'GC10M100747', 'score': 0.28}]
chr10 GH10I100872 100872364 100872533 0.72 [{'connected_gene': 'PAX2', 'score': 10.29}, {'connected_gene': 'SLF2', 'score': 10.15}, {'connected_gene': 'TLX1', 'score': 9.72}, {'connected_gene': 'GC10P100864', 'score': 0.44}, {'connected_gene': 'ENSG00000222072', 'score': 0.29}]
chr10 GH10I100625 100625824 100626033 0.38 [{'connected_gene': 'PAX2', 'score': 10.64}, {'connected_gene': 'ENSG00000274660', 'score': 0.26}, {'connected_gene': 'NDUFB8', 'score': 0.15}]
chr10 GH10I100628 100628230 100628456 0.4 [{'connected_gene': 'PAX2', 'score': 11.65}, {'connected_gene': 'ENSG00000274660', 'score': 0.28}, {'connected_gene': 'NDUFB8', 'score': 0.15}]
chr10 GH10I100626 100625298 100625496 0.4 [{'connected_gene': 'PAX2', 'score': 10.63}, {'connected_gene': 'ENSG00000231188', 'score': 4.49}, {'connected_gene': 'ENSG00000274660', 'score': 0.26}, {'connected_gene': 'NDUFB8', 'score': 0.15}]
chr10 GH10I100627 100626184 100626222 0.31 [{'connected_gene': 'PAX2', 'score': 10.64}, {'connected_gene': 'ENSG00000274660', 'score': 0.26}, {'connected_gene': 'NDUFB8', 'score': 0.15}]
chr10 GH10I100749 100743464 100743613 0.86 [{'connected_gene': 'PAX2', 'score': 0.44}, {'connected_gene': 'GC10M100747', 'score': 0.13}]
chr10 GH10I100743 100743704 100743873 0.92 [{'connected_gene': 'PAX2', 'score': 0.44}, {'connected_gene': 'GC10M100747', 'score': 0.13}]
chr10 GH10I100791 100791715 100792615 0.38 [{'connected_gene': 'PAX2', 'score': 0.22}, {'connected_gene': 'GC10M100747', 'score': 0.19}]
chr10 GH10I100739 100739884 100740173 0.74 [{'connected_gene': 'PAX2', 'score': 0.77}, {'connected_gene': 'GC10M100747', 'score': 0.13}]
chr10 GH10I100747 100745624 100745677 0.89 [{'connected_gene': 'PAX2', 'score': 0.39}, {'connected_gene': 'GC10M100747', 'score': 0.13}]
chr10 GH10I100744 100744204 100744353 0.99 [{'connected_gene': 'PAX2', 'score': 0.44}, {'connected_gene': 'GC10M100747', 'score': 0.13}]
chr10 GH10I100737 100737564 100737973 0.76 [{'connected_gene': 'PAX2', 'score': 0.77}, {'connected_gene': 'GC10M100747', 'score': 0.13}]
chr10 GH10I100740 100740604 100740753 0.58 [{'connected_gene': 'PAX2', 'score': 0.44}, {'connected_gene': 'GC10M100747', 'score': 0.13}]
chr10 GH10I100767 100767595 100767869 0.51 [{'connected_gene': 'PAX2', 'score': 0.29}, {'connected_gene': 'GC10M100747', 'score': 0.15}]
chr10 GH10I100746 100746104 100746253 1.39 [{'connected_gene': 'PAX2', 'score': 550.39}, {'connected_gene': 'GC10M100747', 'score': 0.13}]
chr10 GH10I100741 100740184 100740333 0.58 [{'connected_gene': 'PAX2', 'score': 0.77}, {'connected_gene': 'GC10M100747', 'score': 0.13}]
chr10 GH10I100745 100745728 100745787 1.39 [{'connected_gene': 'PAX2', 'score': 550.39}, {'connected_gene': 'GC10M100747', 'score': 0.13}]
chr10 GH10I100742 100741024 100741273 0.63 [{'connected_gene': 'PAX2', 'score': 0.44}, {'connected_gene': 'GC10M100747', 'score': 0.13}]
chr10 GH10I100859 100859120 100859321 0.51 [{'connected_gene': 'GC10M100747', 'score': 0.44}, {'connected_gene': 'PAX2', 'score': 0.13}]
chr10 GH10I100697 100697244 100697393 0.76 [{'connected_gene': 'GC10M100694', 'score': 550.77}, {'connected_gene': 'PAX2', 'score': 11.39}, {'connected_gene': 'GC10P100685', 'score': 0.39}]
chr10 GH10I100808 100808035 100808309 0.4 [{'connected_gene': 'GC10M100747', 'score': 0.22}, {'connected_gene': 'PAX2', 'score': 0.19}]
chr10 GH10I100803 100803930 100804236 0.77 [{'connected_gene': 'GC10M100747', 'score': 0.21}, {'connected_gene': 'PAX2', 'score': 0.2}]
chr10 GH10I100696 100696664 100696813 0.69 [{'connected_gene': 'GC10M100694', 'score': 550.77}, {'connected_gene': 'EBAG9P1', 'score': 15.07}, {'connected_gene': 'MRPL43', 'score': 13.39}, {'connected_gene': 'LZTS2', 'score': 11.42}, {'connected_gene': 'PAX2', 'score': 11.39}, {'connected_gene': 'GC10P100685', 'score': 0.39}]

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