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
ENST00000523821 [[97251625, 97251913], [97252021, 97252083], [97256146, 97256308], [97258087, 97258159], [97258534, 97258682], [97263133, 97263323], [97269189, 97269342], [97270584, 97270928], [97273728, 97273838]] [[97252056, 97252083], [97256146, 97256308], [97258087, 97258159], [97258534, 97258682], [97263133, 97263323], [97269189, 97269342], [97270584, 97270918]]
ENST00000522822 [[97251651, 97251913], [97256146, 97256308], [97258087, 97258159], [97258534, 97258682], [97263133, 97263323], [97269189, 97269503]] [[97251718, 97251913], [97256146, 97256308], [97258087, 97258159], [97258534, 97258682], [97263133, 97263323], [97269189, 97269313]]
ENST00000524341 [[97251656, 97251913], [97258087, 97258159], [97258534, 97258682], [97263133, 97263323], [97269189, 97269298]] [[97251718, 97251913], [97258087, 97258159], [97258534, 97258682], [97263133, 97263240]]
ENST00000287025 [[97251662, 97251913], [97256146, 97256308], [97258087, 97258159], [97258534, 97258682], [97263133, 97263323], [97269189, 97269342], [97270584, 97270928], [97273728, 97273817]] [[97251718, 97251913], [97256146, 97256308], [97258087, 97258159], [97258534, 97258682], [97263133, 97263323], [97269189, 97269342], [97270584, 97270918]]
ENST00000517720 [[97270715, 97270928], [97272364, 97272475], [97273728, 97273816]] [[97270715, 97270918]]
NM_001286643 [[97251625, 97251913], [97252021, 97252083], [97256146, 97256308], [97258087, 97258159], [97258534, 97258682], [97263133, 97263323], [97269189, 97269342], [97270584, 97270928], [97273728, 97273841]] [[97252056, 97252083], [97256146, 97256308], [97258087, 97258159], [97258534, 97258682], [97263133, 97263323], [97269189, 97269342], [97270584, 97270918]]
NM_015942 [[97251625, 97251913], [97256146, 97256308], [97258087, 97258159], [97258534, 97258682], [97263133, 97263323], [97269189, 97269342], [97270584, 97270928], [97273728, 97273841]] [[97251718, 97251913], [97256146, 97256308], [97258087, 97258159], [97258534, 97258682], [97263133, 97263323], [97269189, 97269342], [97270584, 97270918]]
Promoter
Chrom Start End Description
chr8 97273807 97273853 CAGE_peak_1_at_MTERFD1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I096231 96231713 96231862 0.63 [{'connected_gene': 'PTDSS1', 'score': 11.71}, {'connected_gene': 'MTERF3', 'score': 11.71}, {'connected_gene': 'GDF6', 'score': 10.67}, {'connected_gene': 'UQCRB', 'score': 0.77}, {'connected_gene': 'LOC101927039', 'score': 0.77}, {'connected_gene': 'GC08P096183', 'score': 0.25}]
chr8 GH08I096325 96325978 96328782 1.09 [{'connected_gene': 'PTDSS1', 'score': 10.54}, {'connected_gene': 'MTERF3', 'score': 10.54}, {'connected_gene': 'GC08P096341', 'score': 0.39}, {'connected_gene': 'ENSG00000199732', 'score': 0.37}]
chr8 GH08I096333 96333273 96333422 0.77 [{'connected_gene': 'PTDSS1', 'score': 10.33}, {'connected_gene': 'MTERF3', 'score': 10.33}, {'connected_gene': 'GC08P096341', 'score': 0.44}, {'connected_gene': 'ENSG00000199732', 'score': 0.34}]
chr8 GH08I096312 96312567 96313644 0.79 [{'connected_gene': 'PTDSS1', 'score': 11.93}, {'connected_gene': 'MTERF3', 'score': 11.93}, {'connected_gene': 'ENSG00000199732', 'score': 0.77}, {'connected_gene': 'GC08P096341', 'score': 0.31}]
chr8 GH08I096324 96324536 96324812 0.2 [{'connected_gene': 'PTDSS1', 'score': 10.21}, {'connected_gene': 'MTERF3', 'score': 10.21}, {'connected_gene': 'GC08P096341', 'score': 0.37}, {'connected_gene': 'ENSG00000199732', 'score': 0.37}]
chr8 GH08I096334 96334744 96335488 0.38 [{'connected_gene': 'PTDSS1', 'score': 10.33}, {'connected_gene': 'MTERF3', 'score': 10.33}, {'connected_gene': 'GC08P096341', 'score': 0.44}, {'connected_gene': 'ENSG00000199732', 'score': 0.31}]
chr8 GH08I096323 96323973 96324122 0.38 [{'connected_gene': 'PTDSS1', 'score': 10.21}, {'connected_gene': 'MTERF3', 'score': 10.21}, {'connected_gene': 'ENSG00000199732', 'score': 0.39}, {'connected_gene': 'GC08P096341', 'score': 0.37}]
chr8 GH08I096233 96233555 96236635 1.99 [{'connected_gene': 'UQCRB', 'score': 550.77}, {'connected_gene': 'LOC101927039', 'score': 550.77}, {'connected_gene': 'MTERF3', 'score': 21.37}, {'connected_gene': 'PTDSS1', 'score': 12.26}, {'connected_gene': 'GC08P096183', 'score': 0.23}]
chr8 GH08I096227 96227253 96227402 0.65 [{'connected_gene': 'MTERF3', 'score': 20.91}, {'connected_gene': 'PTDSS1', 'score': 11.69}, {'connected_gene': 'GDF6', 'score': 10.68}, {'connected_gene': 'UQCRB', 'score': 0.44}, {'connected_gene': 'LOC101927039', 'score': 0.44}, {'connected_gene': 'GC08P096183', 'score': 0.26}]
chr8 GH08I096260 96260138 96265430 2.09 [{'connected_gene': 'MTERF3', 'score': 559.79}, {'connected_gene': 'PTDSS1', 'score': 550.77}, {'connected_gene': 'C8orf37', 'score': 10.71}, {'connected_gene': 'GC08P096270', 'score': 0.44}, {'connected_gene': 'LOC105375652', 'score': 0.34}]
chr8 GH08I096281 96281195 96281994 0.63 [{'connected_gene': 'MTERF3', 'score': 6.77}, {'connected_gene': 'PTDSS1', 'score': 4.7}, {'connected_gene': 'LOC105375652', 'score': 0.77}, {'connected_gene': 'GC08P096270', 'score': 0.39}]
chr8 GH08I096293 96293272 96294386 0.38 [{'connected_gene': 'MTERF3', 'score': 17.95}, {'connected_gene': 'PTDSS1', 'score': 11.23}, {'connected_gene': 'LOC105375652', 'score': 0.44}, {'connected_gene': 'ENSG00000199732', 'score': 0.37}]
chr8 GH08I096245 96245893 96247066 0.31 [{'connected_gene': 'MTERF3', 'score': 7.83}, {'connected_gene': 'UQCRB', 'score': 0.39}]
chr8 GH08I096259 96259059 96259118 0.73 [{'connected_gene': 'MTERF3', 'score': 550.77}, {'connected_gene': 'UQCRB', 'score': 0.34}]
chr8 GH08I096103 96103296 96105553 0.8 [{'connected_gene': 'MTERF3', 'score': 11.64}, {'connected_gene': 'GDF6', 'score': 11.45}, {'connected_gene': 'C8orf37', 'score': 11.31}, {'connected_gene': 'TUBBP7', 'score': 0.34}, {'connected_gene': 'GAPDHP30', 'score': 0.29}]
chr8 GH08I095484 95484686 95486518 0.31 [{'connected_gene': 'MTERF3', 'score': 5.73}, {'connected_gene': 'ENSG00000253872', 'score': 0.37}, {'connected_gene': 'ENSG00000253945', 'score': 0.18}, {'connected_gene': 'C8orf37-AS1', 'score': 0.06}]
chr8 GH08I095267 95267856 95271238 2.12 [{'connected_gene': 'C8orf37', 'score': 563.74}, {'connected_gene': 'TRS-AGA2-5', 'score': 550.77}, {'connected_gene': 'VIRMA', 'score': 62.5}, {'connected_gene': 'INTS8', 'score': 56.34}, {'connected_gene': 'ENSG00000272509', 'score': 11.48}, {'connected_gene': 'ENSG00000253704', 'score': 10.65}, {'connected_gene': 'ENSG00000253878', 'score': 10.43}, {'connected_gene': 'MTERF3', 'score': 4.99}, {'connected_gene': 'LINC01298', 'score': 0.23}, {'connected_gene': 'C8orf37-AS1', 'score': 0.2}]
chr8 GH08I096283 96282630 96284240 0.56 [{'connected_gene': 'LOC105375652', 'score': 550.77}, {'connected_gene': 'PTDSS1', 'score': 11.85}, {'connected_gene': 'MTERF3', 'score': 11.85}, {'connected_gene': 'GC08P096270', 'score': 0.39}]
chr8 GH08I096309 96309959 96310142 0.2 [{'connected_gene': 'ENSG00000199732', 'score': 550.77}, {'connected_gene': 'PTDSS1', 'score': 11.94}, {'connected_gene': 'MTERF3', 'score': 11.94}, {'connected_gene': 'GC08P096341', 'score': 0.29}]
chr8 GH08I096337 96337313 96340712 1.35 [{'connected_gene': 'GC08P096341', 'score': 550.77}, {'connected_gene': 'PTDSS1', 'score': 9.67}, {'connected_gene': 'MTERF3', 'score': 9.67}, {'connected_gene': 'ENSG00000199732', 'score': 0.31}]