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
ENST00000608855 [[44684216, 44684659], [44709768, 44709895]] [[44684594, 44684659], [44709768, 44709895]]
ENST00000609092 [[44684224, 44684401], [44684598, 44684659], [44709768, 44709943], [44712969, 44713040]] [[44684355, 44684401], [44684598, 44684659], [44709768, 44709943], [44712969, 44713040]]
ENST00000507917 [[44703884, 44705159], [44709768, 44709943], [44712969, 44713154], [44719129, 44719312], [44724100, 44724259], [44728490, 44728587]] [[44705097, 44705159], [44709768, 44709943], [44712969, 44713154], [44719129, 44719312], [44724100, 44724224]]
ENST00000295448 [[44704155, 44705159], [44709768, 44709943], [44712969, 44713154], [44719129, 44719312], [44720325, 44720427], [44724100, 44724259], [44728490, 44728612]] [[44705097, 44705159], [44709768, 44709943], [44712969, 44713154], [44719129, 44719312], [44720325, 44720427], [44724100, 44724224]]
ENST00000507534 [[44704804, 44705159], [44709768, 44709943], [44712969, 44713154], [44719129, 44719312], [44720325, 44720427], [44728490, 44728540]] [[44705097, 44705159], [44709768, 44709943], [44712969, 44713154], [44719129, 44719312], [44720325, 44720341]]
ENST00000509756 [[44705262, 44709943], [44712969, 44713154], [44719129, 44719312], [44720325, 44720427], [44724100, 44724259], [44728490, 44728562]] [[44709757, 44709943], [44712969, 44713154], [44719129, 44719312], [44720325, 44720427], [44724100, 44724224]]
ENST00000511187 [[44708428, 44709943], [44728490, 44728605]] None
NM_138335 [[44703811, 44705159], [44709768, 44709943], [44712969, 44713154], [44719129, 44719312], [44720325, 44720427], [44724100, 44724259], [44728490, 44728651]] [[44705097, 44705159], [44709768, 44709943], [44712969, 44713154], [44719129, 44719312], [44720325, 44720427], [44724100, 44724224]]
NM_001270880 [[44703811, 44705159], [44709768, 44709943], [44712969, 44713154], [44719129, 44719312], [44724100, 44724259], [44728490, 44728651]] [[44705097, 44705159], [44709768, 44709943], [44712969, 44713154], [44719129, 44719312], [44724100, 44724224]]
NR_073094 [[44703811, 44705159], [44709768, 44709943], [44712969, 44713154], [44716612, 44716676], [44719129, 44719312], [44720325, 44720427], [44728490, 44728651]] None
NM_001270881 [[44703811, 44705159], [44709768, 44709943], [44712969, 44713154], [44719129, 44719312], [44720325, 44720427], [44728490, 44728651]] [[44705097, 44705159], [44709768, 44709943], [44712969, 44713154], [44719129, 44719312], [44720325, 44720341]]
NR_073095 [[44703811, 44705159], [44709768, 44709943], [44712969, 44713154], [44728490, 44728651]] None
Promoter
Chrom Start End Description
chr4 44728530 44728544 CAGE_peak_2_at_GNPDA2_5end
chr4 44728559 44728611 CAGE_peak_1_at_GNPDA2_5end
chr4 44728629 44728642 CAGE_peak_3_at_GNPDA2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I044677 44677544 44680513 2.02 [{'connected_gene': 'GUF1', 'score': 571.9}, {'connected_gene': 'YIPF7', 'score': 550.77}, {'connected_gene': 'ENSG00000273369', 'score': 15.17}, {'connected_gene': 'GNPDA2', 'score': 12.9}, {'connected_gene': 'GC04M044690', 'score': 0.39}]
chr4 GH04I044863 44863117 44864761 0.43 [{'connected_gene': 'GUF1', 'score': 9.55}, {'connected_gene': 'GNPDA2', 'score': 5.29}, {'connected_gene': 'LOC100419045', 'score': 0.34}, {'connected_gene': 'LOC105374441', 'score': 0.21}]
chr4 GH04I044522 44522236 44524601 0.2 [{'connected_gene': 'KCTD8', 'score': 15.76}, {'connected_gene': 'GNPDA2', 'score': 13.18}, {'connected_gene': 'GUF1', 'score': 7.89}, {'connected_gene': 'ENSG00000251159', 'score': 0.39}]
chr4 GH04I044764 44764822 44766001 0.2 [{'connected_gene': 'GNPDA2', 'score': 40.01}, {'connected_gene': 'GUF1', 'score': 12.05}, {'connected_gene': 'KCTD8', 'score': 8.82}, {'connected_gene': 'LOC105374439', 'score': 0.28}, {'connected_gene': 'LOC105374440', 'score': 0.28}]
chr4 GH04I044725 44725040 44727257 2.19 [{'connected_gene': 'GNPDA2', 'score': 552.51}, {'connected_gene': 'LOC105374439', 'score': 550.77}, {'connected_gene': 'GUF1', 'score': 28.82}, {'connected_gene': 'KCTD8', 'score': 2.7}, {'connected_gene': 'ENSG00000272936', 'score': 0.34}]