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
ENST00000367781 [[169691780, 169693650], [169694869, 169694942], [169695047, 169695069], [169695839, 169695947], [169696489, 169696666], [169696879, 169697068], [169698326, 169698515], [169698628, 169698814], [169699572, 169699758], [169700975, 169701083], [169701755, 169702139], [169702716, 169702801], [169703111, 169703220]] [[169694884, 169694942], [169695047, 169695069], [169695839, 169695947], [169696489, 169696666], [169696879, 169697068], [169698326, 169698515], [169698628, 169698814], [169699572, 169699758], [169700975, 169701083], [169701755, 169702139], [169702716, 169702753]]
ENST00000367780 [[169691780, 169693650], [169694869, 169694942], [169695047, 169695069], [169695839, 169695947], [169696489, 169696666], [169696879, 169697068], [169698326, 169698515], [169698628, 169698814], [169700975, 169701083], [169701755, 169702139], [169702716, 169702801], [169703111, 169703220]] [[169694884, 169694942], [169695047, 169695069], [169695839, 169695947], [169696489, 169696666], [169696879, 169697068], [169698326, 169698515], [169698628, 169698814], [169700975, 169701083], [169701755, 169702139], [169702716, 169702753]]
ENST00000367782 [[169691780, 169693650], [169694869, 169694942], [169695047, 169695069], [169695839, 169695947], [169696489, 169696666], [169697198, 169697387], [169698326, 169698515], [169698628, 169698814], [169699572, 169699758], [169700975, 169701083], [169701755, 169702139], [169702716, 169702801], [169703111, 169703220]] [[169694884, 169694942], [169695047, 169695069], [169695839, 169695947], [169696489, 169696666], [169697198, 169697387], [169698326, 169698515], [169698628, 169698814], [169699572, 169699758], [169700975, 169701083], [169701755, 169702139], [169702716, 169702753]]
ENST00000367779 [[169691780, 169693650], [169694869, 169694942], [169695047, 169695069], [169695839, 169695947], [169696489, 169696666], [169698326, 169698515], [169698628, 169698814], [169699572, 169699758], [169700975, 169701083], [169701755, 169702139], [169702716, 169702801], [169703111, 169703220]] [[169694884, 169694942], [169695047, 169695069], [169695839, 169695947], [169696489, 169696666], [169698326, 169698515], [169698628, 169698814], [169699572, 169699758], [169700975, 169701083], [169701755, 169702139], [169702716, 169702753]]
ENST00000367775 [[169691781, 169693650], [169694869, 169694942], [169695047, 169695069], [169695839, 169695947], [169696489, 169696666], [169696879, 169697068], [169698326, 169698515], [169698628, 169698814], [169700975, 169701083], [169701755, 169702139], [169702716, 169702800]] [[169694884, 169694942], [169695047, 169695069], [169695839, 169695947], [169696489, 169696666], [169696879, 169697068], [169698326, 169698515], [169698628, 169698814], [169700975, 169701083], [169701755, 169702139], [169702716, 169702753]]
ENST00000367776 [[169691781, 169693650], [169694869, 169694942], [169695047, 169695069], [169695839, 169695947], [169696489, 169696666], [169696879, 169697068], [169698326, 169698515], [169698628, 169698814], [169699572, 169699758], [169700975, 169701083], [169701755, 169702139], [169702716, 169702801]] [[169694884, 169694942], [169695047, 169695069], [169695839, 169695947], [169696489, 169696666], [169696879, 169697068], [169698326, 169698515], [169698628, 169698814], [169699572, 169699758], [169700975, 169701083], [169701755, 169702139], [169702716, 169702753]]
ENST00000367777 [[169691781, 169693650], [169694869, 169694942], [169695047, 169695069], [169695839, 169695947], [169696489, 169696666], [169697198, 169697387], [169698326, 169698515], [169698628, 169698814], [169699572, 169699758], [169700975, 169701083], [169701755, 169702139], [169702716, 169702801]] [[169694884, 169694942], [169695047, 169695069], [169695839, 169695947], [169696489, 169696666], [169697198, 169697387], [169698326, 169698515], [169698628, 169698814], [169699572, 169699758], [169700975, 169701083], [169701755, 169702139], [169702716, 169702753]]
ENST00000333360 [[169691781, 169693650], [169694869, 169694942], [169695047, 169695069], [169695839, 169695947], [169696489, 169696666], [169696879, 169697068], [169697198, 169697387], [169698326, 169698515], [169698628, 169698814], [169699572, 169699758], [169700975, 169701083], [169701755, 169702139], [169702716, 169702801], [169703111, 169703203]] [[169694884, 169694942], [169695047, 169695069], [169695839, 169695947], [169696489, 169696666], [169696879, 169697068], [169697198, 169697387], [169698326, 169698515], [169698628, 169698814], [169699572, 169699758], [169700975, 169701083], [169701755, 169702139], [169702716, 169702753]]
ENST00000367774 [[169694869, 169694942], [169695047, 169695069], [169695839, 169695947], [169696489, 169696666], [169698326, 169698515], [169698628, 169698814], [169699572, 169699758], [169700975, 169701083], [169701755, 169702139], [169702716, 169702801]] [[169694884, 169694942], [169695047, 169695069], [169695839, 169695947], [169696489, 169696666], [169698326, 169698515], [169698628, 169698814], [169699572, 169699758], [169700975, 169701083], [169701755, 169702139], [169702716, 169702753]]
ENST00000461085 [[169700631, 169701083], [169701755, 169701859]] None
ENST00000609271 [[169702717, 169702801], [169703111, 169703264], [169733523, 169733846]] [[169702717, 169702753]]
NM_000450 [[169691780, 169693650], [169694869, 169694942], [169695047, 169695069], [169695839, 169695947], [169696489, 169696666], [169696879, 169697068], [169697198, 169697387], [169698326, 169698515], [169698628, 169698814], [169699572, 169699758], [169700975, 169701083], [169701755, 169702139], [169702716, 169702801], [169703111, 169703220]] [[169694884, 169694942], [169695047, 169695069], [169695839, 169695947], [169696489, 169696666], [169696879, 169697068], [169697198, 169697387], [169698326, 169698515], [169698628, 169698814], [169699572, 169699758], [169700975, 169701083], [169701755, 169702139], [169702716, 169702753]]
Promoter
Chrom Start End Description
chr1 169703213 169703227 CAGE_peak_1_at_SELE_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I169741 169741415 169741429 0.46 [{'connected_gene': 'METTL18', 'score': 11.08}, {'connected_gene': 'C1orf112', 'score': 11.03}, {'connected_gene': 'SELP', 'score': 9.99}, {'connected_gene': 'GC01M169692', 'score': 0.37}, {'connected_gene': 'ENSG00000230704', 'score': 0.34}, {'connected_gene': 'SELE', 'score': 0.34}]
chr1 GH01I169744 169744868 169746386 0.85 [{'connected_gene': 'METTL18', 'score': 45.29}, {'connected_gene': 'C1orf112', 'score': 11.03}, {'connected_gene': 'SELP', 'score': 9.98}, {'connected_gene': 'ENSG00000230704', 'score': 0.37}, {'connected_gene': 'SELE', 'score': 0.37}, {'connected_gene': 'GC01M169692', 'score': 0.34}]
chr1 GH01I169715 169715577 169719146 0.31 [{'connected_gene': 'METTL18', 'score': 31.15}, {'connected_gene': 'F5', 'score': 11.74}, {'connected_gene': 'SELE', 'score': 10.73}, {'connected_gene': 'GC01M169692', 'score': 0.44}, {'connected_gene': 'SELL', 'score': 0.44}, {'connected_gene': 'C1orf112', 'score': 0.22}]
chr1 GH01I169604 169604402 169605600 0.89 [{'connected_gene': 'SELP', 'score': 12.25}, {'connected_gene': 'SELE', 'score': 10.2}, {'connected_gene': 'SELL', 'score': 6.83}, {'connected_gene': 'F5', 'score': 0.37}]
chr1 GH01I169603 169603001 169603200 0.2 [{'connected_gene': 'SELP', 'score': 12.25}, {'connected_gene': 'SELE', 'score': 10.19}, {'connected_gene': 'F5', 'score': 0.37}]
chr1 GH01I169602 169602601 169602800 0.2 [{'connected_gene': 'SELP', 'score': 12.25}, {'connected_gene': 'SELE', 'score': 10.19}, {'connected_gene': 'F5', 'score': 0.37}]
chr1 GH01I169638 169638532 169639897 0.2 [{'connected_gene': 'SELE', 'score': 9.47}, {'connected_gene': 'METTL18', 'score': 8.12}, {'connected_gene': 'SELP', 'score': 0.44}, {'connected_gene': 'GC01P169651', 'score': 0.39}]
chr1 GH01I169641 169641403 169642177 0.2 [{'connected_gene': 'SELE', 'score': 9.46}, {'connected_gene': 'SELL', 'score': 8.74}, {'connected_gene': 'GC01P169651', 'score': 0.44}, {'connected_gene': 'SELP', 'score': 0.39}]
chr1 GH01I169734 169734069 169734128 0.5 [{'connected_gene': 'SELE', 'score': 550.29}, {'connected_gene': 'GC01M169692', 'score': 0.44}, {'connected_gene': 'ENSG00000230704', 'score': 0.29}, {'connected_gene': 'C1orf112', 'score': 0.19}]
chr1 GH01I169571 169571508 169573157 1.01 [{'connected_gene': 'F5', 'score': 11.09}, {'connected_gene': 'C1orf112', 'score': 9.9}, {'connected_gene': 'METTL18', 'score': 9.8}, {'connected_gene': 'SELE', 'score': 9.66}, {'connected_gene': 'SCYL3', 'score': 1.4}, {'connected_gene': 'GC01P169565', 'score': 0.44}]
chr1 GH01I169721 169721757 169724999 0.43 [{'connected_gene': 'GC01M169692', 'score': 550.77}, {'connected_gene': 'METTL18', 'score': 41.62}, {'connected_gene': 'F5', 'score': 10.78}, {'connected_gene': 'C1orf112', 'score': 10.59}, {'connected_gene': 'SCYL3', 'score': 6.62}, {'connected_gene': 'SELL', 'score': 0.39}, {'connected_gene': 'SELE', 'score': 0.26}]
chr1 GH01I169565 169565743 169565892 0.75 [{'connected_gene': 'GC01P169565', 'score': 550.77}, {'connected_gene': 'SELE', 'score': 10.38}, {'connected_gene': 'F5', 'score': 0.34}]
chr1 GH01I169546 169546443 169546452 0.72 [{'connected_gene': 'ENSG00000213062', 'score': 11.97}, {'connected_gene': 'SLC19A2', 'score': 11.97}, {'connected_gene': 'F5', 'score': 11.35}, {'connected_gene': 'CCDC181', 'score': 10.68}, {'connected_gene': 'SELE', 'score': 9.96}, {'connected_gene': 'GC01P169565', 'score': 0.37}, {'connected_gene': 'GC01P169489', 'score': 0.22}]
chr1 GH01I169547 169546483 169546652 0.72 [{'connected_gene': 'ENSG00000213062', 'score': 11.97}, {'connected_gene': 'SLC19A2', 'score': 11.97}, {'connected_gene': 'F5', 'score': 11.35}, {'connected_gene': 'CCDC181', 'score': 10.68}, {'connected_gene': 'SELE', 'score': 9.96}, {'connected_gene': 'GC01P169565', 'score': 0.37}, {'connected_gene': 'GC01P169489', 'score': 0.22}]