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
ENST00000429586 [[183903810, 183904068], [183904294, 183904442], [183904583, 183904663], [183905184, 183905231], [183905451, 183905549], [183905648, 183905771], [183905928, 183906195], [183906548, 183906629], [183906716, 183906776], [183906875, 183906932], [183907042, 183907065], [183907175, 183907231], [183907344, 183907545], [183907642, 183907719], [183908786, 183908831], [183908910, 183909043], [183910388, 183910477], [183910592, 183910684], [183910889, 183911022], [183911152, 183911240], [183911327, 183911795]] [[183903995, 183904068], [183904294, 183904442], [183904583, 183904663], [183905184, 183905231], [183905451, 183905549], [183905648, 183905771], [183905928, 183906195], [183906548, 183906629], [183906716, 183906776], [183906875, 183906932], [183907042, 183907065], [183907175, 183907231], [183907344, 183907545], [183907642, 183907719], [183908786, 183908831], [183908910, 183909043], [183910388, 183910477], [183910592, 183910684], [183910889, 183911022], [183911152, 183911240], [183911327, 183911486]]
ENST00000421340 [[183903882, 183904068], [183904294, 183904442], [183904583, 183904663], [183905151, 183905231], [183905451, 183905549], [183905648, 183905746]] [[183903995, 183904068], [183904294, 183904442], [183904583, 183904663], [183905151, 183905162]]
ENST00000485921 [[183903891, 183904068], [183904294, 183904442], [183904583, 183905071]] None
ENST00000463685 [[183903947, 183904068], [183904294, 183904834]] None
ENST00000478288 [[183903948, 183904068], [183904294, 183904442], [183904583, 183904663], [183905184, 183905549], [183905648, 183905689]] None
ENST00000292808 [[183903961, 183904068], [183904294, 183904424], [183904583, 183904663], [183905184, 183905231], [183905451, 183905549], [183905648, 183905771], [183905928, 183906195], [183906548, 183906629], [183906716, 183906776], [183906875, 183906932], [183907042, 183907065], [183907175, 183907231], [183907344, 183907545], [183907642, 183907719], [183908786, 183908831], [183908910, 183909043], [183910388, 183910477], [183910592, 183910684], [183910889, 183911022], [183911152, 183911240], [183911327, 183911793]] [[183903995, 183904068], [183904294, 183904424], [183904583, 183904663], [183905184, 183905231], [183905451, 183905549], [183905648, 183905771], [183905928, 183906195], [183906548, 183906629], [183906716, 183906776], [183906875, 183906932], [183907042, 183907065], [183907175, 183907231], [183907344, 183907545], [183907642, 183907719], [183908786, 183908831], [183908910, 183909043], [183910388, 183910477], [183910592, 183910684], [183910889, 183911022], [183911152, 183911240], [183911327, 183911486]]
ENST00000473311 [[183903963, 183904068], [183904294, 183904663], [183905184, 183905549], [183905648, 183905771], [183905928, 183906195], [183906451, 183906458], [183906548, 183906629], [183906716, 183906776], [183906875, 183906932], [183907042, 183907065], [183907175, 183907231], [183907344, 183907545], [183907642, 183907719], [183908786, 183908831], [183908910, 183909043], [183910388, 183910477], [183910592, 183910684], [183910889, 183911022], [183911152, 183911240], [183911327, 183911800]] None
ENST00000481116 [[183903978, 183904068], [183904294, 183904442], [183904583, 183904663], [183905151, 183905401]] None
ENST00000498136 [[183903983, 183904068], [183904294, 183904442], [183904583, 183904663], [183905184, 183905231], [183905451, 183905771], [183905928, 183906195], [183906548, 183906615]] None
ENST00000466416 [[183903986, 183904068], [183904294, 183904424], [183904583, 183904663], [183905184, 183905446]] None
ENST00000471226 [[183906101, 183906195], [183906548, 183906629], [183906716, 183906776], [183906875, 183907065], [183907175, 183907231], [183907344, 183907513]] None
ENST00000472608 [[183906121, 183906195], [183906548, 183906629], [183906716, 183906776], [183906875, 183906932], [183907042, 183907065], [183907175, 183907231], [183907344, 183907545], [183907642, 183907747]] None
ENST00000475728 [[183906577, 183906629], [183906716, 183906776], [183906875, 183906932], [183907042, 183907231], [183907344, 183907489]] None
ENST00000489719 [[183906596, 183906629], [183906716, 183906776], [183906875, 183906932], [183907042, 183907065], [183907175, 183907545], [183907642, 183907668]] None
ENST00000468892 [[183907420, 183907545], [183907642, 183907719], [183908786, 183908831], [183908910, 183909043], [183910388, 183910684], [183910889, 183911022], [183911152, 183911240], [183911327, 183911790]] None
ENST00000466742 [[183907617, 183908831], [183908910, 183909043], [183910388, 183910684], [183910889, 183911022], [183911152, 183911240], [183911327, 183911794]] None
ENST00000480562 [[183908651, 183908831], [183908910, 183909043], [183910388, 183910477], [183910592, 183910684], [183910889, 183911022], [183911152, 183911240], [183911327, 183911794]] None
ENST00000480539 [[183910937, 183911240], [183911327, 183911557]] None
NM_018358 [[183903862, 183904068], [183904294, 183904442], [183904583, 183904663], [183905184, 183905231], [183905451, 183905549], [183905648, 183905771], [183905928, 183906195], [183906548, 183906629], [183906716, 183906776], [183906875, 183906932], [183907042, 183907065], [183907175, 183907231], [183907344, 183907545], [183907642, 183907719], [183908786, 183908831], [183908910, 183909043], [183910388, 183910477], [183910592, 183910684], [183910889, 183911022], [183911152, 183911240], [183911327, 183911795]] [[183903995, 183904068], [183904294, 183904442], [183904583, 183904663], [183905184, 183905231], [183905451, 183905549], [183905648, 183905771], [183905928, 183906195], [183906548, 183906629], [183906716, 183906776], [183906875, 183906932], [183907042, 183907065], [183907175, 183907231], [183907344, 183907545], [183907642, 183907719], [183908786, 183908831], [183908910, 183909043], [183910388, 183910477], [183910592, 183910684], [183910889, 183911022], [183911152, 183911240], [183911327, 183911486]]
Promoter
Chrom Start End Description
chr3 183903943 183903996 CAGE_peak_1_at_ABCF3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I184195 184195157 184197102 0.31 [{'connected_gene': 'ECE2', 'score': 11.5}, {'connected_gene': 'EEF1AKMT4-ECE2', 'score': 11.5}, {'connected_gene': 'ALG3', 'score': 11.5}, {'connected_gene': 'EEF1AKMT4', 'score': 11.5}, {'connected_gene': 'VWA5B2', 'score': 11.37}, {'connected_gene': 'EIF2B5', 'score': 11.22}, {'connected_gene': 'MIR1224', 'score': 11.12}, {'connected_gene': 'CAMK2N2', 'score': 10.98}, {'connected_gene': 'HTR3C', 'score': 10.68}, {'connected_gene': 'PSMD2', 'score': 10.46}, {'connected_gene': 'EIF4G1', 'score': 10.25}, {'connected_gene': 'HTR3E-AS1', 'score': 9.91}, {'connected_gene': 'FAM131A', 'score': 9.86}, {'connected_gene': 'ABCC5', 'score': 9.72}, {'connected_gene': 'DVL3', 'score': 7.99}, {'connected_gene': 'ABCF3', 'score': 0.39}]
chr3 GH03I184197 184197152 184197779 0.31 [{'connected_gene': 'VWA5B2', 'score': 21.75}, {'connected_gene': 'EIF2B5', 'score': 11.22}, {'connected_gene': 'MIR1224', 'score': 11.14}, {'connected_gene': 'ALG3', 'score': 11.11}, {'connected_gene': 'CAMK2N2', 'score': 10.99}, {'connected_gene': 'ECE2', 'score': 10.92}, {'connected_gene': 'EEF1AKMT4', 'score': 10.92}, {'connected_gene': 'EEF1AKMT4-ECE2', 'score': 10.92}, {'connected_gene': 'HTR3C', 'score': 10.68}, {'connected_gene': 'EIF4G1', 'score': 10.25}, {'connected_gene': 'FAM131A', 'score': 9.86}, {'connected_gene': 'HTR3E-AS1', 'score': 9.82}, {'connected_gene': 'ABCC5', 'score': 9.72}, {'connected_gene': 'ABCF3', 'score': 0.39}]
chr3 GH03I184347 184347460 184348923 0.98 [{'connected_gene': 'VWA5B2', 'score': 13.7}, {'connected_gene': 'SNORD66', 'score': 12.38}, {'connected_gene': 'EIF4G1', 'score': 12.34}, {'connected_gene': 'ALG3', 'score': 10.32}, {'connected_gene': 'CAMK2N2', 'score': 10.31}, {'connected_gene': 'EIF2B5', 'score': 9.82}, {'connected_gene': 'MIR1224', 'score': 9.49}, {'connected_gene': 'ABCF3', 'score': 8.8}, {'connected_gene': 'GC03P184344', 'score': 0.77}, {'connected_gene': 'PIR35526', 'score': 0.44}, {'connected_gene': 'GC03M184355', 'score': 0.44}, {'connected_gene': 'FAM131A', 'score': 0.39}, {'connected_gene': 'CLCN2', 'score': 0.39}]
chr3 GH03I184162 184162364 184163616 0.2 [{'connected_gene': 'VWA5B2', 'score': 19.6}, {'connected_gene': 'ABCF3', 'score': 12.31}, {'connected_gene': 'EIF2B5', 'score': 12.24}, {'connected_gene': 'CAMK2N2', 'score': 10.6}, {'connected_gene': 'ALG3', 'score': 10.56}, {'connected_gene': 'ECE2', 'score': 10.56}, {'connected_gene': 'EEF1AKMT4', 'score': 10.56}, {'connected_gene': 'EEF1AKMT4-ECE2', 'score': 10.56}, {'connected_gene': 'MIR1224', 'score': 10.42}, {'connected_gene': 'EIF4G1', 'score': 10.29}, {'connected_gene': 'SNORD66', 'score': 10.29}, {'connected_gene': 'PSMD2', 'score': 10.09}, {'connected_gene': 'PARL', 'score': 9.84}, {'connected_gene': 'RPSAP31', 'score': 9.84}, {'connected_gene': 'FAM131A', 'score': 9.0}, {'connected_gene': 'DVL3', 'score': 0.44}, {'connected_gene': 'AP2M1', 'score': 0.39}]
chr3 GH03I184228 184228636 184231588 1.56 [{'connected_gene': 'VWA5B2', 'score': 566.16}, {'connected_gene': 'ABCF3', 'score': 6.5}, {'connected_gene': 'MIR1224', 'score': 0.39}]
chr3 GH03I184192 184192560 184194621 0.31 [{'connected_gene': 'VWA5B2', 'score': 21.18}, {'connected_gene': 'ALG3', 'score': 11.49}, {'connected_gene': 'ECE2', 'score': 11.49}, {'connected_gene': 'EEF1AKMT4', 'score': 11.49}, {'connected_gene': 'EEF1AKMT4-ECE2', 'score': 11.49}, {'connected_gene': 'MIR1224', 'score': 10.82}, {'connected_gene': 'CAMK2N2', 'score': 10.71}, {'connected_gene': 'ABCF3', 'score': 10.63}, {'connected_gene': 'PSMD2', 'score': 10.46}, {'connected_gene': 'HTR3C', 'score': 9.96}, {'connected_gene': 'HTR3E-AS1', 'score': 9.92}, {'connected_gene': 'EIF4G1', 'score': 9.72}, {'connected_gene': 'DVL3', 'score': 7.19}]
chr3 GH03I184160 184160073 184161642 0.96 [{'connected_gene': 'EIF2B5', 'score': 12.24}, {'connected_gene': 'ABCF3', 'score': 10.85}, {'connected_gene': 'CAMK2N2', 'score': 10.59}, {'connected_gene': 'ALG3', 'score': 10.56}, {'connected_gene': 'ECE2', 'score': 10.56}, {'connected_gene': 'EEF1AKMT4', 'score': 10.56}, {'connected_gene': 'EEF1AKMT4-ECE2', 'score': 10.56}, {'connected_gene': 'VWA5B2', 'score': 10.44}, {'connected_gene': 'MIR1224', 'score': 10.41}, {'connected_gene': 'EIF4G1', 'score': 10.29}, {'connected_gene': 'SNORD66', 'score': 10.29}, {'connected_gene': 'PSMD2', 'score': 10.09}, {'connected_gene': 'PARL', 'score': 9.84}, {'connected_gene': 'RPSAP31', 'score': 9.84}, {'connected_gene': 'FAM131A', 'score': 9.01}, {'connected_gene': 'DVL3', 'score': 0.44}, {'connected_gene': 'AP2M1', 'score': 0.39}]
chr3 GH03I184377 184377602 184380801 2.13 [{'connected_gene': 'THPO', 'score': 550.77}, {'connected_gene': 'CHRD', 'score': 550.77}, {'connected_gene': 'ABCF3', 'score': 6.46}, {'connected_gene': 'POLR2H', 'score': 0.37}]
chr3 GH03I184351 184351446 184353074 0.69 [{'connected_gene': 'SNORD66', 'score': 12.36}, {'connected_gene': 'EIF4G1', 'score': 12.32}, {'connected_gene': 'ALG3', 'score': 10.31}, {'connected_gene': 'CAMK2N2', 'score': 10.3}, {'connected_gene': 'EIF2B5', 'score': 9.82}, {'connected_gene': 'MIR1224', 'score': 9.48}, {'connected_gene': 'VWA5B2', 'score': 9.47}, {'connected_gene': 'ABCF3', 'score': 5.98}, {'connected_gene': 'PSMD2', 'score': 4.68}, {'connected_gene': 'PIR35526', 'score': 0.77}, {'connected_gene': 'GC03M184355', 'score': 0.77}, {'connected_gene': 'GC03P184344', 'score': 0.44}, {'connected_gene': 'CLCN2', 'score': 0.44}]
chr3 GH03I184298 184298197 184301141 2 [{'connected_gene': 'PSMD2', 'score': 561.98}, {'connected_gene': 'ABCF3', 'score': 10.21}, {'connected_gene': 'VWA5B2', 'score': 5.76}, {'connected_gene': 'PIR58473', 'score': 0.44}]
chr3 GH03I184184 184184280 184187914 2.27 [{'connected_gene': 'ABCF3', 'score': 562.78}, {'connected_gene': 'VWA5B2', 'score': 21.22}, {'connected_gene': 'POLR2H', 'score': 13.96}, {'connected_gene': 'EIF2B5', 'score': 10.89}, {'connected_gene': 'ALG3', 'score': 10.76}, {'connected_gene': 'ECE2', 'score': 10.76}, {'connected_gene': 'EEF1AKMT4', 'score': 10.76}, {'connected_gene': 'EEF1AKMT4-ECE2', 'score': 10.76}, {'connected_gene': 'MIR1224', 'score': 10.67}, {'connected_gene': 'CAMK2N2', 'score': 10.56}, {'connected_gene': 'PSMD2', 'score': 10.4}, {'connected_gene': 'EIF4G1', 'score': 10.27}, {'connected_gene': 'DVL3', 'score': 7.36}]
chr3 GH03I184144 184144488 184146636 0.75 [{'connected_gene': 'ABCF3', 'score': 9.33}, {'connected_gene': 'DVL3', 'score': 4.53}, {'connected_gene': 'VWA5B2', 'score': 4.5}, {'connected_gene': 'RPS3P3', 'score': 0.77}, {'connected_gene': 'EIF2B5', 'score': 0.39}, {'connected_gene': 'ENSG00000272721', 'score': 0.39}]
chr3 GH03I184318 184318417 184323688 1.5 [{'connected_gene': 'EIF4G1', 'score': 550.44}, {'connected_gene': 'PSMD2', 'score': 13.18}, {'connected_gene': 'ABCF3', 'score': 7.4}, {'connected_gene': 'DVL3', 'score': 4.26}, {'connected_gene': 'GC03P184326', 'score': 0.77}]
chr3 GH03I184313 184313780 184318007 1.98 [{'connected_gene': 'EIF4G1', 'score': 550.77}, {'connected_gene': 'ABCF3', 'score': 10.14}, {'connected_gene': 'VWA5B2', 'score': 5.57}, {'connected_gene': 'PSMD2', 'score': 5.33}, {'connected_gene': 'GC03P184326', 'score': 0.44}]
chr3 GH03I184154 184154314 184158479 2.18 [{'connected_gene': 'DVL3', 'score': 569.57}, {'connected_gene': 'EIF2B5', 'score': 22.29}, {'connected_gene': 'RPS3P3', 'score': 12.65}, {'connected_gene': 'POLR2H', 'score': 11.15}, {'connected_gene': 'ECE2', 'score': 10.63}, {'connected_gene': 'EEF1AKMT4-ECE2', 'score': 10.63}, {'connected_gene': 'ALG3', 'score': 10.63}, {'connected_gene': 'EEF1AKMT4', 'score': 10.63}, {'connected_gene': 'ABCF3', 'score': 10.59}, {'connected_gene': 'CAMK2N2', 'score': 10.59}, {'connected_gene': 'PSMD2', 'score': 10.5}, {'connected_gene': 'VWA5B2', 'score': 10.44}, {'connected_gene': 'MIR1224', 'score': 10.42}, {'connected_gene': 'EIF4G1', 'score': 10.29}, {'connected_gene': 'SNORD66', 'score': 10.29}, {'connected_gene': 'HTR3C', 'score': 10.17}, {'connected_gene': 'HTR3E-AS1', 'score': 10.09}, {'connected_gene': 'FAM131A', 'score': 10.06}, {'connected_gene': 'PARL', 'score': 9.84}, {'connected_gene': 'RPSAP31', 'score': 9.84}, {'connected_gene': 'AP2M1', 'score': 0.37}]
chr3 GH03I184330 184330887 184339921 2.23 [{'connected_gene': 'FAM131A', 'score': 550.77}, {'connected_gene': 'ABCF3', 'score': 10.13}, {'connected_gene': 'PSMD2', 'score': 9.76}, {'connected_gene': 'VWA5B2', 'score': 7.31}, {'connected_gene': 'ECE2', 'score': 5.95}, {'connected_gene': 'DVL3', 'score': 4.9}, {'connected_gene': 'SNORD66', 'score': 0.44}, {'connected_gene': 'EIF4G1', 'score': 0.34}]
chr3 GH03I184171 184171161 184179162 2.44 [{'connected_gene': 'AP2M1', 'score': 555.19}, {'connected_gene': 'VWA5B2', 'score': 20.35}, {'connected_gene': 'ABCF3', 'score': 13.46}, {'connected_gene': 'EIF2B5', 'score': 11.33}, {'connected_gene': 'DVL3', 'score': 10.88}, {'connected_gene': 'ALG3', 'score': 10.54}, {'connected_gene': 'ECE2', 'score': 10.54}, {'connected_gene': 'EEF1AKMT4', 'score': 10.54}, {'connected_gene': 'EEF1AKMT4-ECE2', 'score': 10.54}, {'connected_gene': 'MIR1224', 'score': 10.39}, {'connected_gene': 'CAMK2N2', 'score': 10.37}]
chr3 GH03I184247 184247994 184250656 2.09 [{'connected_gene': 'ALG3', 'score': 550.77}, {'connected_gene': 'ECE2', 'score': 550.77}, {'connected_gene': 'EEF1AKMT4', 'score': 550.77}, {'connected_gene': 'EEF1AKMT4-ECE2', 'score': 550.77}, {'connected_gene': 'POLR2H', 'score': 19.63}, {'connected_gene': 'RPS3P3', 'score': 14.06}, {'connected_gene': 'PARL', 'score': 13.52}, {'connected_gene': 'VWA5B2', 'score': 13.46}, {'connected_gene': 'DVL3', 'score': 12.19}, {'connected_gene': 'EIF2B5', 'score': 10.25}, {'connected_gene': 'ABCF3', 'score': 10.23}, {'connected_gene': 'MIR1224', 'score': 0.44}]
chr3 GH03I184209 184209480 184210004 0.31 [{'connected_gene': 'MIR1224', 'score': 11.12}, {'connected_gene': 'ALG3', 'score': 11.1}, {'connected_gene': 'ECE2', 'score': 10.81}, {'connected_gene': 'EEF1AKMT4', 'score': 10.81}, {'connected_gene': 'EEF1AKMT4-ECE2', 'score': 10.81}, {'connected_gene': 'CAMK2N2', 'score': 10.8}, {'connected_gene': 'AP2M1', 'score': 10.73}, {'connected_gene': 'PSMD2', 'score': 10.56}, {'connected_gene': 'EIF2B5', 'score': 10.39}, {'connected_gene': 'PARL', 'score': 10.26}, {'connected_gene': 'RPSAP31', 'score': 10.26}, {'connected_gene': 'EIF4G1', 'score': 10.13}, {'connected_gene': 'VWA5B2', 'score': 0.37}, {'connected_gene': 'ABCF3', 'score': 0.34}]

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