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
ENST00000535798 [[13573823, 13574007], [13611814, 13613161], [13649561, 13649673], [13651012, 13651142], [13655483, 13655664], [13659575, 13659785], [13660403, 13660517], [13661229, 13661331], [13667944, 13668079], [13669331, 13669469], [13670404, 13670548], [13670663, 13670792], [13671319, 13671445], [13672198, 13672315], [13672828, 13672957], [13677944, 13678068], [13679061, 13679512]] [[13573970, 13574007], [13611814, 13613161], [13649561, 13649673], [13651012, 13651142], [13655483, 13655664], [13659575, 13659785], [13660403, 13660517], [13661229, 13661331], [13667944, 13668079], [13669331, 13669469], [13670404, 13670548], [13670663, 13670792], [13671319, 13671445], [13672198, 13672315], [13672828, 13672957], [13677944, 13678068], [13679061, 13679419]]
ENST00000404922 [[13590630, 13590708], [13611814, 13613161], [13649561, 13649673], [13651012, 13651142], [13655483, 13655664], [13659575, 13659785], [13660403, 13660517], [13661229, 13661331], [13663274, 13663415], [13667944, 13668079], [13669331, 13669469], [13670404, 13670548], [13670663, 13670792], [13671319, 13671445], [13672198, 13672315], [13672828, 13672957], [13677944, 13678068], [13679061, 13679922]] [[13611855, 13613161], [13649561, 13649673], [13651012, 13651142], [13655483, 13655664], [13659575, 13659785], [13660403, 13660517], [13661229, 13661331], [13663274, 13663415], [13667944, 13668079], [13669331, 13669469], [13670404, 13670548], [13670663, 13670792], [13671319, 13671445], [13672198, 13672315], [13672828, 13672957], [13677944, 13678068], [13679061, 13679419]]
ENST00000295760 [[13590680, 13590708], [13611814, 13613161], [13649561, 13649673], [13651012, 13651142], [13655483, 13655664], [13659575, 13659785], [13660403, 13660517], [13661229, 13661331], [13667944, 13668079], [13669331, 13669469], [13670404, 13670548], [13670663, 13670792], [13671319, 13671445], [13672198, 13672315], [13672828, 13672957], [13677944, 13678068], [13679061, 13679922]] [[13611855, 13613161], [13649561, 13649673], [13651012, 13651142], [13655483, 13655664], [13659575, 13659785], [13660403, 13660517], [13661229, 13661331], [13667944, 13668079], [13669331, 13669469], [13670404, 13670548], [13670663, 13670792], [13671319, 13671445], [13672198, 13672315], [13672828, 13672957], [13677944, 13678068], [13679061, 13679419]]
ENST00000492059 [[13610239, 13610580], [13611814, 13613161], [13649561, 13649673], [13651012, 13651142], [13655483, 13655664], [13659575, 13659785], [13660403, 13660517], [13661229, 13661331], [13663274, 13663415], [13667944, 13668079], [13669331, 13669469], [13670404, 13670548], [13670663, 13670792], [13671319, 13671445], [13672198, 13672315], [13672828, 13672957], [13677944, 13678068], [13679061, 13679534]] [[13611855, 13613161], [13649561, 13649673], [13651012, 13651142], [13655483, 13655664], [13659575, 13659785], [13660403, 13660517], [13661229, 13661331], [13663274, 13663415], [13667944, 13668079], [13669331, 13669469], [13670404, 13670548], [13670663, 13670792], [13671319, 13671445], [13672198, 13672315], [13672828, 13672957], [13677944, 13678068], [13679061, 13679419]]
ENST00000465610 [[13607975, 13608042], [13611814, 13612331]] [[13611855, 13612331]]
ENST00000477845 [[13655397, 13655664], [13659575, 13659785], [13660403, 13660493]] None
ENST00000295761 [[13672828, 13672957], [13677944, 13678068], [13679596, 13679880]] [[13672828, 13672957], [13677944, 13678068], [13679596, 13679672]]
ENST00000421373 [[13677944, 13678068], [13679061, 13679072], [13679615, 13679907]] [[13677944, 13678068], [13679061, 13679072], [13679615, 13679785]]
NM_001998 [[13590624, 13590708], [13611814, 13613161], [13649561, 13649673], [13651012, 13651142], [13655483, 13655664], [13659575, 13659785], [13660403, 13660517], [13661229, 13661331], [13667944, 13668079], [13669331, 13669469], [13670404, 13670548], [13670663, 13670792], [13671319, 13671445], [13672198, 13672315], [13672828, 13672957], [13677944, 13678068], [13679061, 13679922]] [[13611855, 13613161], [13649561, 13649673], [13651012, 13651142], [13655483, 13655664], [13659575, 13659785], [13660403, 13660517], [13661229, 13661331], [13667944, 13668079], [13669331, 13669469], [13670404, 13670548], [13670663, 13670792], [13671319, 13671445], [13672198, 13672315], [13672828, 13672957], [13677944, 13678068], [13679061, 13679419]]
NM_001004019 [[13590624, 13590708], [13611814, 13613161], [13649561, 13649673], [13651012, 13651142], [13655483, 13655664], [13659575, 13659785], [13660403, 13660517], [13661229, 13661331], [13663274, 13663415], [13667944, 13668079], [13669331, 13669469], [13670404, 13670548], [13670663, 13670792], [13671319, 13671445], [13672198, 13672315], [13672828, 13672957], [13677944, 13678068], [13679061, 13679922]] [[13611855, 13613161], [13649561, 13649673], [13651012, 13651142], [13655483, 13655664], [13659575, 13659785], [13660403, 13660517], [13661229, 13661331], [13663274, 13663415], [13667944, 13668079], [13669331, 13669469], [13670404, 13670548], [13670663, 13670792], [13671319, 13671445], [13672198, 13672315], [13672828, 13672957], [13677944, 13678068], [13679061, 13679419]]
NM_001165035 [[13610239, 13610580], [13611814, 13613161], [13649561, 13649673], [13651012, 13651142], [13655483, 13655664], [13659575, 13659785], [13660403, 13660517], [13661229, 13661331], [13663274, 13663415], [13667944, 13668079], [13669331, 13669469], [13670404, 13670548], [13670663, 13670792], [13671319, 13671445], [13672198, 13672315], [13672828, 13672957], [13677944, 13678068], [13679061, 13679922]] [[13611855, 13613161], [13649561, 13649673], [13651012, 13651142], [13655483, 13655664], [13659575, 13659785], [13660403, 13660517], [13661229, 13661331], [13663274, 13663415], [13667944, 13668079], [13669331, 13669469], [13670404, 13670548], [13670663, 13670792], [13671319, 13671445], [13672198, 13672315], [13672828, 13672957], [13677944, 13678068], [13679061, 13679419]]
Promoter
Chrom Start End Description
chr3 13590619 13590632 CAGE_peak_2_at_FBLN2_5end
chr3 13590636 13590667 CAGE_peak_1_at_FBLN2_5end
chr3 13607975 13607991 CAGE_peak_18_at_FBLN2_5end
chr3 13610185 13610194 CAGE_peak_9_at_FBLN2_5end
chr3 13610216 13610265 CAGE_peak_3_at_FBLN2_5end
chr3 13679729 13679759 CAGE_peak_5_at_FBLN2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I013587 13587325 13590308 0.64 [{'connected_gene': 'HDAC11', 'score': 10.25}, {'connected_gene': 'HDAC11-AS1', 'score': 10.25}, {'connected_gene': 'WNT7A', 'score': 9.61}, {'connected_gene': 'GC03P013574', 'score': 0.39}, {'connected_gene': 'GC03M014469', 'score': 0.34}, {'connected_gene': 'FBLN2', 'score': 0.28}]
chr3 GH03I013590 13590362 13593181 0.43 [{'connected_gene': 'HDAC11', 'score': 10.24}, {'connected_gene': 'HDAC11-AS1', 'score': 10.24}, {'connected_gene': 'GC03P013574', 'score': 0.37}, {'connected_gene': 'GC03M014469', 'score': 0.34}, {'connected_gene': 'FBLN2', 'score': 0.26}]
chr3 GH03I013542 13542997 13545423 1.07 [{'connected_gene': 'HDAC11', 'score': 15.84}, {'connected_gene': 'HDAC11-AS1', 'score': 11.19}, {'connected_gene': 'FBLN2', 'score': 0.77}, {'connected_gene': 'PIR59377', 'score': 0.34}]
chr3 GH03I013593 13593925 13595501 0.52 [{'connected_gene': 'HDAC11', 'score': 10.38}, {'connected_gene': 'HDAC11-AS1', 'score': 10.38}, {'connected_gene': 'GC03M014469', 'score': 0.37}, {'connected_gene': 'GC03P013574', 'score': 0.34}, {'connected_gene': 'FBLN2', 'score': 0.25}]
chr3 GH03I013598 13598748 13602018 1.1 [{'connected_gene': 'HDAC11', 'score': 10.47}, {'connected_gene': 'HDAC11-AS1', 'score': 10.47}, {'connected_gene': 'VN1R20P', 'score': 4.5}, {'connected_gene': 'GC03M014469', 'score': 0.39}, {'connected_gene': 'GC03P013574', 'score': 0.31}, {'connected_gene': 'FBLN2', 'score': 0.23}]
chr3 GH03I013546 13546033 13547573 1.34 [{'connected_gene': 'HDAC11', 'score': 11.18}, {'connected_gene': 'HDAC11-AS1', 'score': 11.18}, {'connected_gene': 'VN1R20P', 'score': 5.22}, {'connected_gene': 'FBLN2', 'score': 0.77}, {'connected_gene': 'PIR59377', 'score': 0.34}]
chr3 GH03I013562 13562607 13566892 0.57 [{'connected_gene': 'TMEM43', 'score': 4.98}, {'connected_gene': 'HDAC11', 'score': 4.75}, {'connected_gene': 'GC03P013574', 'score': 0.44}, {'connected_gene': 'FBLN2', 'score': 0.37}]
chr3 GH03I013528 13528779 13530845 0.65 [{'connected_gene': 'XPC', 'score': 17.93}, {'connected_gene': 'ENSG00000228242', 'score': 15.8}, {'connected_gene': 'TMEM43', 'score': 10.51}, {'connected_gene': 'PIR59377', 'score': 0.44}, {'connected_gene': 'FBLN2', 'score': 0.37}]
chr3 GH03I013583 13583393 13583980 0.2 [{'connected_gene': 'WNT7A', 'score': 9.61}, {'connected_gene': 'GC03P013574', 'score': 0.44}, {'connected_gene': 'GC03M014469', 'score': 0.31}, {'connected_gene': 'FBLN2', 'score': 0.29}]
chr3 GH03I013580 13580268 13583347 0.66 [{'connected_gene': 'WNT7A', 'score': 9.61}, {'connected_gene': 'CHCHD4', 'score': 4.28}, {'connected_gene': 'GC03P013574', 'score': 0.44}, {'connected_gene': 'FBLN2', 'score': 0.29}, {'connected_gene': 'GC03M014469', 'score': 0.29}]
chr3 GH03I013647 13647301 13649180 1.13 [{'connected_gene': 'LINC00620', 'score': 21.25}, {'connected_gene': 'XPC', 'score': 17.93}, {'connected_gene': 'ENSG00000228242', 'score': 15.81}, {'connected_gene': 'TMEM43', 'score': 10.53}, {'connected_gene': 'FBLN2', 'score': 4.92}, {'connected_gene': 'LOC100293612', 'score': 0.44}, {'connected_gene': 'GC03M014469', 'score': 0.28}]
chr3 GH03I013532 13532792 13540443 1.54 [{'connected_gene': 'LINC00620', 'score': 11.33}, {'connected_gene': 'FBLN2', 'score': 5.34}, {'connected_gene': 'HDAC11', 'score': 4.88}, {'connected_gene': 'PIR59377', 'score': 0.39}]
chr3 GH03I013622 13622687 13623981 0.38 [{'connected_gene': 'LINC00620', 'score': 5.58}, {'connected_gene': 'GC03M014469', 'score': 0.39}, {'connected_gene': 'FBLN2', 'score': 0.19}]
chr3 GH03I013621 13621174 13622424 0.46 [{'connected_gene': 'LINC00620', 'score': 5.58}, {'connected_gene': 'GC03M014469', 'score': 0.44}, {'connected_gene': 'FBLN2', 'score': 0.19}]
chr3 GH03I013557 13557612 13557983 0.8 [{'connected_gene': 'FBLN2', 'score': 2.62}, {'connected_gene': 'GC03P013574', 'score': 0.37}]
chr3 GH03I013569 13569664 13569723 0.96 [{'connected_gene': 'FBLN2', 'score': 550.34}, {'connected_gene': 'GC03P013574', 'score': 0.77}]
chr3 GH03I013550 13549731 13550838 0.72 [{'connected_gene': 'FBLN2', 'score': 550.77}, {'connected_gene': 'GC03P013574', 'score': 0.34}]
chr3 GH03I013556 13556002 13557392 0.72 [{'connected_gene': 'FBLN2', 'score': 0.44}, {'connected_gene': 'GC03P013574', 'score': 0.37}]
chr3 GH03I013552 13552327 13555431 0.54 [{'connected_gene': 'FBLN2', 'score': 0.77}, {'connected_gene': 'GC03P013574', 'score': 0.34}]
chr3 GH03I013549 13549000 13549601 1.66 [{'connected_gene': 'FBLN2', 'score': 550.77}, {'connected_gene': 'GC03P013574', 'score': 0.31}]
chr3 GH03I013568 13568691 13568750 0.7 [{'connected_gene': 'FBLN2', 'score': 550.37}, {'connected_gene': 'GC03P013574', 'score': 0.44}]
chr3 GH03I013547 13547696 13548630 0.59 [{'connected_gene': 'FBLN2', 'score': 550.77}, {'connected_gene': 'PIR59377', 'score': 0.34}]
chr3 GH03I013558 13558896 13562380 0.64 [{'connected_gene': 'VN1R20P', 'score': 5.26}, {'connected_gene': 'FBLN2', 'score': 0.39}, {'connected_gene': 'GC03P013574', 'score': 0.39}]
chr3 GH03I013613 13613061 13613210 0.8 [{'connected_gene': 'GC03M014469', 'score': 550.77}, {'connected_gene': 'LINC00620', 'score': 0.28}, {'connected_gene': 'FBLN2', 'score': 0.21}]
chr3 GH03I013529 13528581 13528750 0.66 [{'connected_gene': 'PIR59377', 'score': 0.44}, {'connected_gene': 'FBLN2', 'score': 0.34}]
chr3 GH03I013573 13573998 13576052 1.07 [{'connected_gene': 'GC03P013574', 'score': 550.77}, {'connected_gene': 'FBLN2', 'score': 0.31}, {'connected_gene': 'GC03M014469', 'score': 0.28}]
chr3 GH03I013525 13525401 13525510 0.51 [{'connected_gene': 'PIR59377', 'score': 0.77}, {'connected_gene': 'FBLN2', 'score': 0.34}]
chr3 GH03I013579 13579201 13579330 0.95 [{'connected_gene': 'GC03P013574', 'score': 0.77}, {'connected_gene': 'FBLN2', 'score': 0.29}, {'connected_gene': 'GC03M014469', 'score': 0.29}]
chr3 GH03I013526 13526000 13526201 0.51 [{'connected_gene': 'PIR59377', 'score': 0.77}, {'connected_gene': 'FBLN2', 'score': 0.34}]

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