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
ENST00000536223 [[79034751, 79034803], [79115831, 79115977], [79117154, 79118584]] [[79117297, 79118584]]
ENST00000488136 [[79034765, 79034803], [79115831, 79115977], [79116668, 79116847], [79117154, 79117332]] None
ENST00000442371 [[79056581, 79057231], [79115831, 79115977], [79117154, 79122330]] [[79117297, 79118584]]
ENST00000444201 [[79074067, 79074221], [79115831, 79115977], [79117154, 79122330]] [[79117297, 79118584]]
ENST00000480311 [[79074137, 79074221], [79115831, 79115977], [79117154, 79117385]] None
ENST00000376730 [[79074145, 79074221], [79074975, 79075093], [79115831, 79115977], [79117154, 79122332]] [[79117297, 79118584]]
NM_001097634 [[79056581, 79057231], [79115831, 79115977], [79117154, 79122332]] [[79117297, 79118584]]
NM_001097633 [[79074067, 79074221], [79115831, 79115977], [79117154, 79122332]] [[79117297, 79118584]]
NM_001490 [[79074067, 79074221], [79074975, 79075093], [79115831, 79115977], [79117154, 79122332]] [[79117297, 79118584]]
NM_001097635 [[79093256, 79093446], [79115831, 79115977], [79117154, 79122332]] [[79117297, 79118584]]
NM_001097636 [[79115548, 79115977], [79117154, 79122332]] [[79117297, 79118584]]
Promoter
Chrom Start End Description
chr9 79057008 79057019 CAGE_peak_5_at_GCNT1_5end
chr9 79074077 79074150 CAGE_peak_1_at_GCNT1_5end
chr9 79074159 79074170 CAGE_peak_2_at_GCNT1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I076529 76529421 76530056 0.2 [{'connected_gene': 'RPSAP9', 'score': 6.65}, {'connected_gene': 'GCNT1', 'score': 5.83}, {'connected_gene': 'PIR37722', 'score': 0.77}, {'connected_gene': 'LOC105376093', 'score': 0.39}, {'connected_gene': 'PPIAP87', 'score': 0.34}]
chr9 GH09I076392 76392997 76396189 2.03 [{'connected_gene': 'RFK', 'score': 560.85}, {'connected_gene': 'GCNT1', 'score': 8.27}, {'connected_gene': 'RPSAP9', 'score': 0.77}]
chr9 GH09I076441 76441081 76442685 0.76 [{'connected_gene': 'RFK', 'score': 9.65}, {'connected_gene': 'GCNT1', 'score': 0.34}, {'connected_gene': 'ENSG00000233814', 'score': 0.34}, {'connected_gene': 'LOC105376093', 'score': 0.19}]
chr9 GH09I076447 76447402 76448217 0.79 [{'connected_gene': 'RFK', 'score': 8.05}, {'connected_gene': 'GCNT1', 'score': 0.31}, {'connected_gene': 'ENSG00000233814', 'score': 0.31}, {'connected_gene': 'LOC105376093', 'score': 0.2}]
chr9 GH09I076453 76453646 76454343 0.43 [{'connected_gene': 'RFK', 'score': 8.08}, {'connected_gene': 'GCNT1', 'score': 0.29}, {'connected_gene': 'ENSG00000233814', 'score': 0.29}, {'connected_gene': 'LOC105376093', 'score': 0.21}]
chr9 GH09I076455 76455785 76457154 1.18 [{'connected_gene': 'RFK', 'score': 8.23}, {'connected_gene': 'GCNT1', 'score': 0.28}, {'connected_gene': 'ENSG00000233814', 'score': 0.28}, {'connected_gene': 'LOC105376093', 'score': 0.22}]
chr9 GH09I076372 76372587 76376124 1.17 [{'connected_gene': 'PCSK5', 'score': 9.79}, {'connected_gene': 'GCNT1', 'score': 6.62}, {'connected_gene': 'RFK', 'score': 6.58}, {'connected_gene': 'RBM22P5', 'score': 0.17}]
chr9 GH09I076607 76607817 76621843 1.14 [{'connected_gene': 'GCNT1', 'score': 15.16}, {'connected_gene': 'RPSAP9', 'score': 11.18}, {'connected_gene': 'PRUNE2', 'score': 8.27}, {'connected_gene': 'LOC105376095', 'score': 0.44}, {'connected_gene': 'GC09P076757', 'score': 0.11}]
chr9 GH09I076458 76458545 76462670 1.94 [{'connected_gene': 'GCNT1', 'score': 556.5}, {'connected_gene': 'RFK', 'score': 6.15}, {'connected_gene': 'ENSG00000233814', 'score': 0.26}, {'connected_gene': 'LOC105376093', 'score': 0.22}]
chr9 GH09I076470 76470803 76474200 1.03 [{'connected_gene': 'GCNT1', 'score': 9.22}, {'connected_gene': 'RFK', 'score': 7.79}, {'connected_gene': 'LOC105376093', 'score': 0.26}, {'connected_gene': 'ENSG00000233814', 'score': 0.23}]
chr9 GH09I076489 76489774 76491267 0.51 [{'connected_gene': 'GCNT1', 'score': 9.93}, {'connected_gene': 'RFK', 'score': 6.8}, {'connected_gene': 'LOC105376093', 'score': 0.31}, {'connected_gene': 'ENSG00000233814', 'score': 0.19}]
chr9 GH09I076378 76378144 76380444 0.73 [{'connected_gene': 'GCNT1', 'score': 8.53}, {'connected_gene': 'RFK', 'score': 0.37}, {'connected_gene': 'RBM22P5', 'score': 0.16}]
chr9 GH09I076530 76530402 76531199 0.4 [{'connected_gene': 'GCNT1', 'score': 6.16}, {'connected_gene': 'PIR37722', 'score': 0.77}, {'connected_gene': 'PPIAP87', 'score': 0.37}, {'connected_gene': 'LOC105376093', 'score': 0.37}]
chr9 GH09I076450 76450861 76451920 0.31 [{'connected_gene': 'GCNT1', 'score': 0.29}, {'connected_gene': 'ENSG00000233814', 'score': 0.29}, {'connected_gene': 'LOC105376093', 'score': 0.21}]
chr9 GH09I076431 76431725 76431874 0.2 [{'connected_gene': 'GCNT1', 'score': 0.39}, {'connected_gene': 'ENSG00000233814', 'score': 0.39}, {'connected_gene': 'LOC105376093', 'score': 0.18}]
chr9 GH09I076444 76444116 76444912 0.52 [{'connected_gene': 'GCNT1', 'score': 6.79}, {'connected_gene': 'ENSG00000233814', 'score': 0.34}, {'connected_gene': 'LOC105376093', 'score': 0.19}]
chr9 GH09I076422 76422927 76424467 0.85 [{'connected_gene': 'GCNT1', 'score': 9.49}, {'connected_gene': 'ENSG00000233814', 'score': 0.77}, {'connected_gene': 'LOC105376093', 'score': 0.16}]
chr9 GH09I076622 76622545 76625133 0.51 [{'connected_gene': 'PRUNE2', 'score': 8.08}, {'connected_gene': 'GCNT1', 'score': 5.08}, {'connected_gene': 'LOC105376095', 'score': 0.37}, {'connected_gene': 'GC09P076757', 'score': 0.12}]
chr9 GH09I076687 76687044 76689264 1.4 [{'connected_gene': 'PRUNE2', 'score': 67.58}, {'connected_gene': 'GCNT1', 'score': 1.82}, {'connected_gene': 'GC09P076757', 'score': 0.2}, {'connected_gene': 'LOC105376095', 'score': 0.18}]
chr9 GH09I076475 76475473 76476357 0.2 [{'connected_gene': 'LOC105376093', 'score': 0.28}, {'connected_gene': 'GCNT1', 'score': 0.22}, {'connected_gene': 'ENSG00000233814', 'score': 0.22}]
chr9 GH09I076491 76491401 76491600 0.2 [{'connected_gene': 'LOC105376093', 'score': 0.34}, {'connected_gene': 'GCNT1', 'score': 0.19}, {'connected_gene': 'ENSG00000233814', 'score': 0.19}]
chr9 GH09I076524 76524993 76527665 0.46 [{'connected_gene': 'PIR37722', 'score': 550.77}, {'connected_gene': 'PIR34534', 'score': 550.77}, {'connected_gene': 'GCNT1', 'score': 5.17}, {'connected_gene': 'RFK', 'score': 4.74}, {'connected_gene': 'LOC105376093', 'score': 0.39}, {'connected_gene': 'PPIAP87', 'score': 0.34}]
chr9 GH09I076414 76414178 76416436 0.46 [{'connected_gene': 'PIR58613', 'score': 550.77}, {'connected_gene': 'GCNT1', 'score': 9.33}]

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