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
ENST00000535390 [[4537320, 4537569], [4537664, 4537881]] None
ENST00000543077 [[4537321, 4537569], [4553298, 4553385]] [[4537560, 4537569], [4553298, 4553385]]
ENST00000228837 [[4543308, 4543557], [4553298, 4553402], [4554390, 4554780]] [[4543380, 4543557], [4553298, 4553402], [4554390, 4554736]]
NM_020996 [[4543307, 4543557], [4553298, 4553402], [4554390, 4554780]] [[4543380, 4543557], [4553298, 4553402], [4554390, 4554736]]
Promoter
Chrom Start End Description
chr12 4554976 4554982 CAGE_peak_1_at_FGF6_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
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 GH12I004450 4449291 4451636 0.59 [{'connected_gene': 'TIGAR', 'score': 7.34}, {'connected_gene': 'FGF6', 'score': 0.77}, {'connected_gene': 'C12orf4', 'score': 0.17}]
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 GH12I004536 4536408 4536467 0.5 [{'connected_gene': 'C12orf4', 'score': 550.77}, {'connected_gene': 'FGF6', 'score': 0.16}]
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 GH12I004449 4449075 4449224 0.46 [{'connected_gene': 'FGF6', 'score': 0.77}, {'connected_gene': 'C12orf4', 'score': 0.17}]
chr12 GH12I004472 4472132 4472527 0.69 [{'connected_gene': 'FGF6', 'score': 12.23}, {'connected_gene': 'C12orf4', 'score': 0.2}]
chr12 GH12I004484 4484575 4484724 0.49 [{'connected_gene': 'FGF6', 'score': 11.11}, {'connected_gene': 'C12orf4', 'score': 0.23}]
chr12 GH12I003815 3815340 3817937 0.31 [{'connected_gene': 'FGF6', 'score': 9.46}, {'connected_gene': 'PARP11', 'score': 6.61}, {'connected_gene': 'OTUD4P1', 'score': 0.34}, {'connected_gene': 'GC12P005643', 'score': 0.31}]
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}]