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
ENST00000237837 [[4477392, 4479949], [4481759, 4481863], [4488537, 4488894]] [[4479508, 4479949], [4481759, 4481863], [4488537, 4488748]]
NM_020638 [[4477392, 4479949], [4481759, 4481863], [4488537, 4488894]] [[4479508, 4479949], [4481759, 4481863], [4488537, 4488748]]
Promoter
Chrom Start End Description
chr12 4488872 4488879 CAGE_peak_1_at_FGF23_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I004305 4305294 4306148 0.31 [{'connected_gene': 'FGF23', 'score': 11.04}, {'connected_gene': 'TIGAR', 'score': 0.77}, {'connected_gene': 'PIR44232', 'score': 0.77}, {'connected_gene': 'CCND2', 'score': 0.29}]
chr12 GH12I004440 4439201 4439652 0.46 [{'connected_gene': 'FGF23', 'score': 10.78}, {'connected_gene': 'RAD51AP1', 'score': 10.08}, {'connected_gene': 'C12orf4', 'score': 10.08}, {'connected_gene': 'FGF6', 'score': 0.44}]
chr12 GH12I003918 3918110 3918132 0.23 [{'connected_gene': 'FGF23', 'score': 2.5}, {'connected_gene': 'GC12P005659', 'score': 0.31}, {'connected_gene': 'LOC105369608', 'score': 0.26}, {'connected_gene': 'GC12M003877', 'score': 0.26}]
chr12 GH12I004356 4356015 4356204 0.56 [{'connected_gene': 'FGF23', 'score': 0.34}, {'connected_gene': 'RPS15P7', 'score': 0.29}, {'connected_gene': 'TIGAR', 'score': 0.25}]
chr12 GH12I004378 4378409 4379845 1.04 [{'connected_gene': 'FGF23', 'score': 550.77}, {'connected_gene': 'RPS15P7', 'score': 0.23}]
chr12 GH12I004439 4439782 4442727 0.95 [{'connected_gene': 'C12orf4', 'score': 14.46}, {'connected_gene': 'FGF23', 'score': 10.77}, {'connected_gene': 'RAD51AP1', 'score': 10.08}, {'connected_gene': 'FGF6', 'score': 0.77}]
chr12 GH12I004339 4339177 4339554 0.24 [{'connected_gene': 'PARP11', 'score': 2.54}, {'connected_gene': 'TIGAR', 'score': 2.35}, {'connected_gene': 'CCND2', 'score': 1.49}, {'connected_gene': 'RPS15P7', 'score': 0.39}, {'connected_gene': 'FGF23', 'score': 0.26}]
chr12 GH12I004506 4506311 4508121 0.75 [{'connected_gene': 'FGF6', 'score': 11.39}, {'connected_gene': 'FGF23', 'score': 11.09}, {'connected_gene': 'RAD51AP1', 'score': 10.84}, {'connected_gene': 'C12orf4', 'score': 10.84}, {'connected_gene': 'TIGAR', 'score': 5.21}]
chr12 GH12I004414 4414696 4415622 0.8 [{'connected_gene': 'FGF6', 'score': 11.46}, {'connected_gene': 'FGF23', 'score': 11.42}, {'connected_gene': 'RAD51AP1', 'score': 10.08}, {'connected_gene': 'C12orf4', 'score': 10.08}]
chr12 GH12I004505 4505549 4506050 0.38 [{'connected_gene': 'FGF6', 'score': 11.39}, {'connected_gene': 'FGF23', 'score': 11.09}, {'connected_gene': 'RAD51AP1', 'score': 10.84}, {'connected_gene': 'C12orf4', 'score': 10.84}]
chr12 GH12I004445 4445533 4445592 0.5 [{'connected_gene': 'FGF6', 'score': 550.77}, {'connected_gene': 'FGF23', 'score': 0.2}]
chr12 GH12I004434 4434339 4435444 0.81 [{'connected_gene': 'FGF6', 'score': 0.39}, {'connected_gene': 'FGF23', 'score': 0.22}]
chr12 GH12I004392 4392558 4392761 0.42 [{'connected_gene': 'FGF6', 'score': 11.12}, {'connected_gene': 'RAD51AP1', 'score': 10.4}, {'connected_gene': 'C12orf4', 'score': 10.4}, {'connected_gene': 'FGF23', 'score': 0.39}]
chr12 GH12I004383 4383000 4383822 0.52 [{'connected_gene': 'FGF6', 'score': 10.6}, {'connected_gene': 'RAD51AP1', 'score': 10.02}, {'connected_gene': 'C12orf4', 'score': 10.02}, {'connected_gene': 'FGF23', 'score': 0.77}]
chr12 GH12I004302 4302464 4304244 0.58 [{'connected_gene': 'PIR44232', 'score': 550.77}, {'connected_gene': 'FGF23', 'score': 11.03}, {'connected_gene': 'TIGAR', 'score': 0.77}, {'connected_gene': 'CCND2', 'score': 0.31}]
chr12 GH12I004300 4300382 4301404 0.38 [{'connected_gene': 'PIR44232', 'score': 550.77}, {'connected_gene': 'FGF23', 'score': 11.03}, {'connected_gene': 'CCND2-AS1', 'score': 0.34}, {'connected_gene': 'CCND2', 'score': 0.31}]