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
ENST00000555574 [[51706879, 51707162], [51710573, 51710694], [51712030, 51712569]] None
ENST00000457354 [[51706885, 51707162], [51710573, 51710689], [51712030, 51712076], [51713809, 51713938], [51716043, 51716089], [51716185, 51716287], [51716410, 51716483], [51721058, 51722759]] [[51707010, 51707162], [51710573, 51710689], [51712030, 51712076], [51713809, 51713938], [51716043, 51716089], [51716185, 51716287], [51716410, 51716483], [51721058, 51721237]]
ENST00000556683 [[51706967, 51707162], [51710573, 51710689], [51712030, 51712172], [51713809, 51713938], [51716043, 51716089], [51716185, 51716287], [51716410, 51716483], [51721058, 51722372]] [[51707010, 51707162], [51710573, 51710689], [51712030, 51712080]]
NM_030755 [[51706885, 51707162], [51710573, 51710689], [51712030, 51712076], [51713809, 51713938], [51716043, 51716089], [51716185, 51716287], [51716410, 51716483], [51721058, 51724373]] [[51707010, 51707162], [51710573, 51710689], [51712030, 51712076], [51713809, 51713938], [51716043, 51716089], [51716185, 51716287], [51716410, 51716483], [51721058, 51721237]]
Promoter
Chrom Start End Description
chr14 51706923 51707006 CAGE_peak_1_at_TMX1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I051138 51138191 51140018 0.72 [{'connected_gene': 'TMX1', 'score': 17.07}, {'connected_gene': 'TRIM9', 'score': 9.36}]
chr14 GH14I051203 51203283 51203432 0.67 [{'connected_gene': 'TMX1', 'score': 18.5}, {'connected_gene': 'ENSG00000201376', 'score': 10.18}, {'connected_gene': 'TRIM9', 'score': 0.14}]
chr14 GH14I051239 51239401 51241828 1.99 [{'connected_gene': 'TMX1', 'score': 550.77}, {'connected_gene': 'ENSG00000270062', 'score': 10.3}, {'connected_gene': 'GC14P051245', 'score': 0.77}]
chr14 GH14I050665 50665200 50671073 2.24 [{'connected_gene': 'SAV1', 'score': 566.29}, {'connected_gene': 'TMX1', 'score': 13.27}, {'connected_gene': 'POLE2', 'score': 10.48}, {'connected_gene': 'VCPKMT', 'score': 10.47}, {'connected_gene': 'MAP4K5', 'score': 7.36}, {'connected_gene': 'CDKL1', 'score': 5.58}, {'connected_gene': 'GC14M050664', 'score': 0.77}, {'connected_gene': 'GC14P050662', 'score': 0.44}]
chr14 GH14I051581 51581012 51582549 1.29 [{'connected_gene': 'FRMD6', 'score': 16.61}, {'connected_gene': 'TMX1', 'score': 11.85}, {'connected_gene': 'RNU6-1291P', 'score': 10.51}, {'connected_gene': 'PTGER2', 'score': 10.38}, {'connected_gene': 'FRMD6-AS2', 'score': 0.37}]
chr14 GH14I051649 51649614 51656246 2.48 [{'connected_gene': 'FRMD6', 'score': 556.27}, {'connected_gene': 'FRMD6-AS1', 'score': 550.77}, {'connected_gene': 'TMX1', 'score': 11.38}, {'connected_gene': 'GNG2', 'score': 10.46}, {'connected_gene': 'RNU6-301P', 'score': 10.3}, {'connected_gene': 'RNA5SP385', 'score': 0.28}]
chr14 GH14I051104 51104563 51104652 0.31 [{'connected_gene': 'TRIM9', 'score': 0.44}, {'connected_gene': 'TMX1', 'score': 0.12}]
chr14 GH14I051131 51131643 51131792 0.2 [{'connected_gene': 'TRIM9', 'score': 9.46}, {'connected_gene': 'TMX1', 'score': 0.14}]
chr14 GH14I051167 51167745 51168501 0.31 [{'connected_gene': 'TRIM9', 'score': 8.53}, {'connected_gene': 'TMX1', 'score': 6.11}]
chr14 GH14I051979 51979203 51979352 0.88 [{'connected_gene': 'LOC105370500', 'score': 11.3}, {'connected_gene': 'FRMD6', 'score': 10.74}, {'connected_gene': 'PSMC6', 'score': 9.75}, {'connected_gene': 'TMX1', 'score': 9.67}, {'connected_gene': 'LOC105370497', 'score': 0.44}, {'connected_gene': 'ENSG00000259007', 'score': 0.44}, {'connected_gene': 'GNG2', 'score': 0.1}]
chr14 GH14I051980 51979001 51979201 0.86 [{'connected_gene': 'LOC105370500', 'score': 11.3}, {'connected_gene': 'FRMD6', 'score': 10.74}, {'connected_gene': 'PSMC6', 'score': 9.75}, {'connected_gene': 'TMX1', 'score': 9.67}, {'connected_gene': 'LOC105370497', 'score': 0.44}, {'connected_gene': 'ENSG00000259007', 'score': 0.44}, {'connected_gene': 'GNG2', 'score': 0.1}]
chr14 GH14I051304 51304080 51306457 0.69 [{'connected_gene': 'LOC105370495', 'score': 5.32}, {'connected_gene': 'TMX1', 'score': 4.82}, {'connected_gene': 'LINC00640', 'score': 4.58}, {'connected_gene': 'LINC00519', 'score': 0.34}, {'connected_gene': 'GC14P051278', 'score': 0.31}]
chr14 GH14I051283 51283403 51283864 0.63 [{'connected_gene': 'ENSG00000201376', 'score': 11.16}, {'connected_gene': 'TMX1', 'score': 9.61}, {'connected_gene': 'TRIM9', 'score': 4.51}, {'connected_gene': 'GC14P051278', 'score': 0.44}, {'connected_gene': 'LINC00519', 'score': 0.26}]
chr14 GH14I051065 51065874 51070444 0.76 [{'connected_gene': 'ENSG00000259055', 'score': 9.02}, {'connected_gene': 'TMX1', 'score': 4.28}, {'connected_gene': 'TRIM9', 'score': 0.31}, {'connected_gene': 'GC14P050964', 'score': 0.15}]
chr14 GH14I051028 51028079 51030410 0.31 [{'connected_gene': 'ENSG00000259055', 'score': 6.85}, {'connected_gene': 'TMX1', 'score': 4.99}, {'connected_gene': 'GC14P050964', 'score': 0.21}, {'connected_gene': 'TRIM9', 'score': 0.2}]
chr14 GH14I051242 51242903 51243052 0.2 [{'connected_gene': 'ENSG00000201376', 'score': 550.77}, {'connected_gene': 'GC14P051245', 'score': 550.77}, {'connected_gene': 'TMX1', 'score': 0.77}]
chr14 GH14I051243 51242550 51242843 0.43 [{'connected_gene': 'ENSG00000201376', 'score': 550.77}, {'connected_gene': 'GC14P051245', 'score': 550.77}, {'connected_gene': 'TMX1', 'score': 8.62}]
chr14 GH14I051292 51292220 51293890 0.4 [{'connected_gene': 'ENSG00000201376', 'score': 10.43}, {'connected_gene': 'RNU6-301P', 'score': 9.49}, {'connected_gene': 'LINC00519', 'score': 5.43}, {'connected_gene': 'TMX1', 'score': 5.29}, {'connected_gene': 'GC14P051278', 'score': 0.37}]