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
ENST00000371655 [[52373627, 52385786], [52398989, 52399114], [52402965, 52403084], [52442561, 52442789], [52456223, 52456436]] [[52385598, 52385786], [52398989, 52399114], [52402965, 52403084], [52442561, 52442789]]
NM_002867 [[52373627, 52385786], [52398989, 52399114], [52402965, 52403084], [52442561, 52442789], [52456223, 52456436]] [[52385598, 52385786], [52398989, 52399114], [52402965, 52403084], [52442561, 52442789]]
Promoter
Chrom Start End Description
chr1 52442908 52442917 CAGE_peak_9_at_RAB3B_5end
chr1 52456266 52456290 CAGE_peak_2_at_RAB3B_5end
chr1 52456295 52456310 CAGE_peak_3_at_RAB3B_5end
chr1 52456352 52456418 CAGE_peak_1_at_RAB3B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I051928 51928272 51929394 0.31 [{'connected_gene': 'RAB3B', 'score': 11.69}, {'connected_gene': 'CC2D1B', 'score': 5.73}, {'connected_gene': 'GC01P051906', 'score': 0.34}, {'connected_gene': 'GC01P051974', 'score': 0.26}]
chr1 GH01I051923 51923946 51925634 0.74 [{'connected_gene': 'RAB3B', 'score': 10.94}, {'connected_gene': 'ENSG00000223390', 'score': 10.36}, {'connected_gene': 'KTI12', 'score': 10.36}, {'connected_gene': 'RPS13P2', 'score': 10.27}, {'connected_gene': 'ENSG00000230953', 'score': 10.21}, {'connected_gene': 'NRDC', 'score': 7.91}, {'connected_gene': 'GC01P051906', 'score': 0.37}, {'connected_gene': 'GC01P051974', 'score': 0.25}]
chr1 GH01I051927 51927129 51927278 0.4 [{'connected_gene': 'RAB3B', 'score': 11.69}, {'connected_gene': 'GC01P051906', 'score': 0.34}, {'connected_gene': 'GC01P051974', 'score': 0.25}]
chr1 GH01I051940 51940416 51943018 0.31 [{'connected_gene': 'ZCCHC11', 'score': 17.83}, {'connected_gene': 'RAB3B', 'score': 17.79}, {'connected_gene': 'NRDC', 'score': 16.58}, {'connected_gene': 'PRPF38A', 'score': 12.45}, {'connected_gene': 'ENSG00000272100', 'score': 11.98}, {'connected_gene': 'ECHDC2', 'score': 10.04}, {'connected_gene': 'CC2D1B', 'score': 5.73}, {'connected_gene': 'LOC100190934', 'score': 4.98}, {'connected_gene': 'GC01P051974', 'score': 0.29}, {'connected_gene': 'GC01P051906', 'score': 0.28}]
chr1 GH01I051945 51945464 51947051 0.31 [{'connected_gene': 'ZCCHC11', 'score': 6.57}, {'connected_gene': 'LOC100190934', 'score': 4.69}, {'connected_gene': 'GC01P051974', 'score': 0.31}, {'connected_gene': 'GC01P051906', 'score': 0.28}, {'connected_gene': 'RAB3B', 'score': 0.26}]
chr1 GH01I051973 51973749 51973878 0.88 [{'connected_gene': 'RNA5SP48', 'score': 550.77}, {'connected_gene': 'GC01P051974', 'score': 550.77}, {'connected_gene': 'RPS26P14', 'score': 0.44}, {'connected_gene': 'RAB3B', 'score': 0.37}]
chr1 GH01I051968 51968526 51971768 1.28 [{'connected_gene': 'LOC100190934', 'score': 8.66}, {'connected_gene': 'CC2D1B', 'score': 4.8}, {'connected_gene': 'GC01P051974', 'score': 0.77}, {'connected_gene': 'RAB3B', 'score': 0.34}, {'connected_gene': 'GC01P051906', 'score': 0.21}]
chr1 GH01I051989 51989800 51990895 1.78 [{'connected_gene': 'GC01M051989', 'score': 550.77}, {'connected_gene': 'RAB3B', 'score': 550.77}, {'connected_gene': 'GC01M051988', 'score': 0.77}, {'connected_gene': 'GC01P051981', 'score': 0.44}]
chr1 GH01I051990 51990909 51991058 0.66 [{'connected_gene': 'GC01M051989', 'score': 550.77}, {'connected_gene': 'RAB3B', 'score': 550.77}, {'connected_gene': 'GC01M051988', 'score': 0.77}]
chr1 GH01I051956 51956006 51956058 0.66 [{'connected_gene': 'GC01P051974', 'score': 0.37}, {'connected_gene': 'RAB3B', 'score': 0.29}, {'connected_gene': 'GC01P051906', 'score': 0.25}]
chr1 GH01I051957 51957709 51957878 0.8 [{'connected_gene': 'GC01P051974', 'score': 0.37}, {'connected_gene': 'RAB3B', 'score': 0.29}, {'connected_gene': 'GC01P051906', 'score': 0.23}]
chr1 GH01I051963 51963549 51964404 1.04 [{'connected_gene': 'GC01P051974', 'score': 0.44}, {'connected_gene': 'RAB3B', 'score': 0.31}, {'connected_gene': 'GC01P051906', 'score': 0.22}]
chr1 GH01I051896 51896830 51900233 0.96 [{'connected_gene': 'ENSG00000266993', 'score': 12.68}, {'connected_gene': 'ZCCHC11', 'score': 11.21}, {'connected_gene': 'RAB3B', 'score': 6.46}, {'connected_gene': 'CC2D1B', 'score': 4.91}, {'connected_gene': 'GC01P051906', 'score': 0.44}, {'connected_gene': 'NRDC', 'score': 0.37}]
chr1 GH01I052208 52208568 52211540 0.2 [{'connected_gene': 'PIR48588', 'score': 550.77}, {'connected_gene': 'CC2D1B', 'score': 23.55}, {'connected_gene': 'RAB3B', 'score': 10.51}, {'connected_gene': 'GC01P052251', 'score': 0.26}, {'connected_gene': 'ZFYVE9', 'score': 0.2}]
chr1 GH01I051980 51980777 51980836 0.5 [{'connected_gene': 'GC01P051981', 'score': 550.77}, {'connected_gene': 'RPS26P14', 'score': 550.77}, {'connected_gene': 'RAB3B', 'score': 550.44}]