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
ENST00000227524 [[60658201, 60658735], [60665317, 60665423], [60665572, 60665743], [60666012, 60666098], [60666333, 60666403], [60666620, 60666776], [60668053, 60668163], [60668325, 60668401], [60668766, 60668841], [60668970, 60669012], [60669874, 60669937], [60670054, 60670128], [60670211, 60670353], [60670930, 60671007], [60671183, 60671333], [60673835, 60674060]] [[60658637, 60658735], [60665317, 60665423], [60665572, 60665743], [60666012, 60666098], [60666333, 60666403], [60666620, 60666776], [60668053, 60668163], [60668325, 60668401], [60668766, 60668841], [60668970, 60669012], [60669874, 60669937], [60670054, 60670128], [60670211, 60670353], [60670930, 60671007], [60671183, 60671333], [60673835, 60673854]]
ENST00000540473 [[60658207, 60658262], [60668781, 60668841], [60668970, 60669012], [60669874, 60669886]] [[60658238, 60658262], [60668781, 60668841], [60668970, 60669012], [60669874, 60669886]]
ENST00000535326 [[60658218, 60658735], [60665317, 60665423], [60666012, 60666098], [60666333, 60666403]] [[60658637, 60658735], [60665317, 60665423], [60666012, 60666098], [60666333, 60666403]]
ENST00000539960 [[60665021, 60665423], [60665572, 60665743], [60666012, 60666098], [60666333, 60666403], [60666620, 60666687]] None
ENST00000539180 [[60665351, 60665423], [60665572, 60665941]] None
ENST00000541371 [[60666012, 60666050], [60668325, 60668401], [60668766, 60668841], [60668970, 60669012], [60669874, 60669937], [60670054, 60670128], [60670211, 60670353], [60670930, 60671007], [60671183, 60671333], [60673835, 60674041]] [[60666012, 60666050], [60668325, 60668401], [60668766, 60668841], [60668970, 60669012], [60669874, 60669937], [60670054, 60670128], [60670211, 60670353], [60670930, 60671007], [60671183, 60671333], [60673835, 60673854]]
ENST00000546152 [[60668970, 60669012], [60669874, 60669937], [60670054, 60670128], [60670211, 60670353], [60670930, 60671007], [60671183, 60671333], [60672836, 60672924], [60673835, 60674013]] [[60668970, 60669012], [60669874, 60669937], [60670054, 60670128], [60670211, 60670344]]
NM_014502 [[60658018, 60658735], [60665317, 60665423], [60665572, 60665743], [60666012, 60666098], [60666333, 60666403], [60666620, 60666776], [60668053, 60668163], [60668325, 60668401], [60668766, 60668841], [60668970, 60669012], [60669874, 60669937], [60670054, 60670128], [60670211, 60670353], [60670930, 60671007], [60671183, 60671333], [60673835, 60674061]] [[60658637, 60658735], [60665317, 60665423], [60665572, 60665743], [60666012, 60666098], [60666333, 60666403], [60666620, 60666776], [60668053, 60668163], [60668325, 60668401], [60668766, 60668841], [60668970, 60669012], [60669874, 60669937], [60670054, 60670128], [60670211, 60670353], [60670930, 60671007], [60671183, 60671333], [60673835, 60673854]]
Promoter
Chrom Start End Description
chr11 60673902 60673913 CAGE_peak_3_at_PRPF19_5end
chr11 60674000 60674029 CAGE_peak_2_at_PRPF19_5end
chr11 60674037 60674079 CAGE_peak_1_at_PRPF19_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I060898 60898877 60900098 0.92 [{'connected_gene': 'CPSF7', 'score': 19.58}, {'connected_gene': 'TMEM138', 'score': 16.37}, {'connected_gene': 'RN7SL23P', 'score': 15.65}, {'connected_gene': 'CCDC86', 'score': 12.03}, {'connected_gene': 'ENSG00000255959', 'score': 12.03}, {'connected_gene': 'TMEM109', 'score': 11.4}, {'connected_gene': 'PTGDR2', 'score': 11.08}, {'connected_gene': 'ENSG00000256813', 'score': 11.06}, {'connected_gene': 'MS4A10', 'score': 10.54}, {'connected_gene': 'PRPF19', 'score': 7.73}, {'connected_gene': 'PIR47747', 'score': 0.31}]
chr11 GH11I060875 60875327 60876453 0.2 [{'connected_gene': 'CCDC86', 'score': 12.12}, {'connected_gene': 'ENSG00000255959', 'score': 12.12}, {'connected_gene': 'ENSG00000257052', 'score': 10.64}, {'connected_gene': 'PRPF19', 'score': 10.64}, {'connected_gene': 'MS4A10', 'score': 10.55}, {'connected_gene': 'ENSG00000255845', 'score': 10.23}, {'connected_gene': 'PIR47747', 'score': 0.77}, {'connected_gene': 'ZP1', 'score': 0.44}]
chr11 GH11I060774 60774988 60776001 1.02 [{'connected_gene': 'CCDC86', 'score': 11.37}, {'connected_gene': 'ENSG00000255959', 'score': 11.37}, {'connected_gene': 'ENSG00000255845', 'score': 11.06}, {'connected_gene': 'PRPF19', 'score': 10.29}, {'connected_gene': 'ENSG00000257052', 'score': 10.29}, {'connected_gene': 'MS4A10', 'score': 0.44}, {'connected_gene': 'MS4A15', 'score': 0.37}]
chr11 GH11I060840 60840273 60846221 2.28 [{'connected_gene': 'CCDC86', 'score': 557.65}, {'connected_gene': 'ENSG00000255959', 'score': 550.77}, {'connected_gene': 'PRPF19', 'score': 8.08}, {'connected_gene': 'PTGDR2', 'score': 7.22}, {'connected_gene': 'SLC15A3', 'score': 5.21}, {'connected_gene': 'ENSG00000256813', 'score': 0.44}, {'connected_gene': 'GC11P060851', 'score': 0.44}, {'connected_gene': 'PIR48769', 'score': 0.44}]
chr11 GH11I060909 60909359 60918120 2.74 [{'connected_gene': 'TMEM109', 'score': 555.54}, {'connected_gene': 'GC11M060911', 'score': 550.77}, {'connected_gene': 'LOC105369323', 'score': 550.77}, {'connected_gene': 'CD6', 'score': 12.23}, {'connected_gene': 'CD5', 'score': 10.42}, {'connected_gene': 'PRPF19', 'score': 9.11}, {'connected_gene': 'PTGDR2', 'score': 8.31}, {'connected_gene': 'SLC15A3', 'score': 5.32}, {'connected_gene': 'CYB561A3', 'score': 2.5}, {'connected_gene': 'VPS37C', 'score': 2.14}, {'connected_gene': 'ENSG00000257052', 'score': 0.44}, {'connected_gene': 'PIR49215', 'score': 0.44}, {'connected_gene': 'GC11P060908', 'score': 0.44}]
chr11 GH11I060892 60892598 60893268 0.46 [{'connected_gene': 'TMEM132A', 'score': 7.77}, {'connected_gene': 'PRPF19', 'score': 7.57}, {'connected_gene': 'PIR47747', 'score': 0.34}]
chr11 GH11I061355 61355601 61364150 2.48 [{'connected_gene': 'TMEM138', 'score': 577.07}, {'connected_gene': 'CYB561A3', 'score': 550.77}, {'connected_gene': 'CPSF7', 'score': 31.52}, {'connected_gene': 'PRPF19', 'score': 13.88}, {'connected_gene': 'TMEM216', 'score': 13.0}, {'connected_gene': 'RN7SL23P', 'score': 12.96}, {'connected_gene': 'SDHAF2', 'score': 12.86}, {'connected_gene': 'VPS37C', 'score': 11.01}, {'connected_gene': 'TMEM109', 'score': 9.91}, {'connected_gene': 'ENSG00000279246', 'score': 0.44}]
chr11 GH11I060950 60950045 60954947 2.06 [{'connected_gene': 'SLC15A3', 'score': 569.06}, {'connected_gene': 'VPS37C', 'score': 12.39}, {'connected_gene': 'RNU6-933P', 'score': 11.56}, {'connected_gene': 'CPSF7', 'score': 11.12}, {'connected_gene': 'MS4A18', 'score': 9.23}, {'connected_gene': 'PTGDR2', 'score': 6.46}, {'connected_gene': 'PRPF19', 'score': 5.27}, {'connected_gene': 'MS4A2', 'score': 4.03}, {'connected_gene': 'CYB561A3', 'score': 2.25}, {'connected_gene': 'SDHAF2', 'score': 2.04}, {'connected_gene': 'GC11P060938', 'score': 0.39}]
chr11 GH11I060904 60904328 60907599 2.22 [{'connected_gene': 'PRPF19', 'score': 559.44}, {'connected_gene': 'ENSG00000257052', 'score': 550.77}, {'connected_gene': 'PIR49215', 'score': 550.77}, {'connected_gene': 'GC11P060908', 'score': 550.77}, {'connected_gene': 'PTGDR2', 'score': 8.46}, {'connected_gene': 'PIR47747', 'score': 0.29}]
chr11 GH11I060890 60890149 60890338 0.88 [{'connected_gene': 'PRPF19', 'score': 0.37}, {'connected_gene': 'PIR47747', 'score': 0.37}]
chr11 GH11I060887 60887628 60887797 0.7 [{'connected_gene': 'PRPF19', 'score': 0.37}, {'connected_gene': 'PIR47747', 'score': 0.37}]
chr11 GH11I060903 60903483 60904063 0.2 [{'connected_gene': 'PRPF19', 'score': 0.77}, {'connected_gene': 'PIR47747', 'score': 0.29}]
chr11 GH11I060891 60890684 60892132 1.02 [{'connected_gene': 'PRPF19', 'score': 0.37}, {'connected_gene': 'PIR47747', 'score': 0.34}]
chr11 GH11I060877 60877995 60879431 0.2 [{'connected_gene': 'PTGDR2', 'score': 12.2}, {'connected_gene': 'ENSG00000256813', 'score': 12.17}, {'connected_gene': 'CCDC86', 'score': 12.14}, {'connected_gene': 'ENSG00000255959', 'score': 12.14}, {'connected_gene': 'ENSG00000257052', 'score': 10.72}, {'connected_gene': 'PRPF19', 'score': 10.72}, {'connected_gene': 'MS4A10', 'score': 10.63}, {'connected_gene': 'ENSG00000255845', 'score': 10.22}, {'connected_gene': 'MS4A18', 'score': 9.79}, {'connected_gene': 'PIR47747', 'score': 0.44}]
chr11 GH11I060939 60939146 60945222 0.79 [{'connected_gene': 'PTGDR2', 'score': 8.29}, {'connected_gene': 'PRPF19', 'score': 8.09}, {'connected_gene': 'TMEM132A', 'score': 6.12}, {'connected_gene': 'GC11P060938', 'score': 0.77}, {'connected_gene': 'SLC15A3', 'score': 0.39}]
chr11 GH11I060947 60947627 60948862 0.38 [{'connected_gene': 'PTGDR2', 'score': 6.9}, {'connected_gene': 'PRPF19', 'score': 6.01}, {'connected_gene': 'TMEM132A', 'score': 5.02}, {'connected_gene': 'SLC15A3', 'score': 0.77}, {'connected_gene': 'GC11P060938', 'score': 0.44}]
chr11 GH11I060902 60902382 60903324 0.2 [{'connected_gene': 'ENSG00000255959', 'score': 11.33}, {'connected_gene': 'CCDC86', 'score': 11.32}, {'connected_gene': 'PRPF19', 'score': 0.77}, {'connected_gene': 'PIR47747', 'score': 0.29}]
chr11 GH11I060851 60851320 60853729 0.8 [{'connected_gene': 'GC11P060851', 'score': 550.77}, {'connected_gene': 'ENSG00000256813', 'score': 550.77}, {'connected_gene': 'PIR48769', 'score': 550.77}, {'connected_gene': 'TMEM216', 'score': 11.62}, {'connected_gene': 'CPSF7', 'score': 11.01}, {'connected_gene': 'PRPF19', 'score': 7.44}, {'connected_gene': 'SLC15A3', 'score': 5.55}, {'connected_gene': 'MS4A2', 'score': 4.27}, {'connected_gene': 'PTGDR2', 'score': 0.77}]
chr11 GH11I060871 60871313 60874045 1.05 [{'connected_gene': 'PIR47747', 'score': 550.77}, {'connected_gene': 'PRPF19', 'score': 19.31}, {'connected_gene': 'ENSG00000255959', 'score': 12.13}, {'connected_gene': 'CCDC86', 'score': 12.12}, {'connected_gene': 'ENSG00000257052', 'score': 10.64}, {'connected_gene': 'MS4A10', 'score': 10.56}, {'connected_gene': 'ENSG00000255845', 'score': 10.23}, {'connected_gene': 'ZP1', 'score': 0.44}]
chr11 GH11I060880 60880701 60881341 0.91 [{'connected_gene': 'ENSG00000256813', 'score': 12.17}, {'connected_gene': 'PTGDR2', 'score': 12.17}, {'connected_gene': 'CCDC86', 'score': 12.14}, {'connected_gene': 'ENSG00000255959', 'score': 12.14}, {'connected_gene': 'PRPF19', 'score': 10.72}, {'connected_gene': 'ENSG00000257052', 'score': 10.72}, {'connected_gene': 'MS4A18', 'score': 9.29}, {'connected_gene': 'PIR47747', 'score': 0.44}]