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
ENST00000419761 [[27961803, 27964344], [27964449, 27964483], [28023384, 28023720], [28024149, 28024303], [28030273, 28030433], [28032156, 28032426], [28034635, 28034778]] [[27964157, 27964344], [27964449, 27964483], [28023384, 28023720], [28024149, 28024303], [28030273, 28030433], [28032156, 28032344]]
ENST00000375790 [[27961803, 27964344], [27964449, 27964483], [28023384, 28023720], [28024149, 28024303], [28030273, 28030433], [28032156, 28032423], [28034635, 28034989]] [[27964157, 27964344], [27964449, 27964483], [28023384, 28023720], [28024149, 28024303], [28030273, 28030433], [28032156, 28032344]]
ENST00000460919 [[28007491, 28007525], [28023384, 28023720], [28024149, 28024303], [28030273, 28030433], [28032156, 28032474]] [[28007491, 28007525], [28023384, 28023720], [28024149, 28024303], [28030273, 28030433], [28032156, 28032344]]
ENST00000561227 [[28032170, 28032426], [28034348, 28034523]] [[28032170, 28032344]]
NM_173576 [[27961802, 27964344], [27964449, 27964483], [28023384, 28023720], [28024149, 28024303], [28030273, 28030433], [28032156, 28032426], [28034635, 28034778]] [[27964157, 27964344], [27964449, 27964483], [28023384, 28023720], [28024149, 28024303], [28030273, 28030433], [28032156, 28032344]]
NM_001242702 [[27961802, 27964344], [27964449, 27964483], [28023384, 28023720], [28024149, 28024303], [28030273, 28030433], [28032156, 28032423], [28034635, 28034778]] [[27964157, 27964344], [27964449, 27964483], [28023384, 28023720], [28024149, 28024303], [28030273, 28030433], [28032156, 28032344]]
Promoter
Chrom Start End Description
chr10 28032421 28032494 CAGE_peak_2_at_MKX_5end
chr10 28032548 28032559 CAGE_peak_7_at_MKX_5end
chr10 28034395 28034404 CAGE_peak_9_at_MKX_5end
chr10 28034739 28034756 CAGE_peak_1_at_MKX_5end
chr10 28034772 28034783 CAGE_peak_4_at_MKX_5end
chr10 28035112 28035130 CAGE_peak_5_at_MKX_5end
chr10 28035133 28035148 CAGE_peak_3_at_MKX_5end
chr10 28035155 28035166 CAGE_peak_8_at_MKX_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I027714 27714007 27714159 0.51 [{'connected_gene': 'MKX', 'score': 11.8}, {'connected_gene': 'ARMC4', 'score': 10.69}, {'connected_gene': 'GC10M027690', 'score': 0.34}, {'connected_gene': 'MKX-AS1', 'score': 0.29}]
chr10 GH10I027820 27820200 27820541 0.69 [{'connected_gene': 'MKX', 'score': 10.69}, {'connected_gene': 'MKX-AS1', 'score': 10.68}, {'connected_gene': 'ARMC4', 'score': 8.0}, {'connected_gene': 'GC10P027838', 'score': 0.37}, {'connected_gene': 'RN7SKP132', 'score': 0.28}]
chr10 GH10I028185 28185259 28186424 0.2 [{'connected_gene': 'MKX', 'score': 10.67}, {'connected_gene': 'MKX-AS1', 'score': 10.67}, {'connected_gene': 'LRRC37A6P', 'score': 5.29}, {'connected_gene': 'MPP7', 'score': 5.09}, {'connected_gene': 'MIR8086', 'score': 0.15}, {'connected_gene': 'MRPS21P5', 'score': 0.09}]
chr10 GH10I028364 28364737 28369905 1.29 [{'connected_gene': 'MPP7', 'score': 24.46}, {'connected_gene': 'MKX-AS1', 'score': 10.23}, {'connected_gene': 'MKX', 'score': 10.23}, {'connected_gene': 'WAC', 'score': 1.4}, {'connected_gene': 'ZNF101P1', 'score': 0.31}, {'connected_gene': 'ENSG00000222666', 'score': 0.26}]
chr10 GH10I028238 28238115 28239102 0.2 [{'connected_gene': 'MPP7', 'score': 17.33}, {'connected_gene': 'MKX-AS1', 'score': 10.95}, {'connected_gene': 'MKX', 'score': 10.95}, {'connected_gene': 'MIR8086', 'score': 0.23}, {'connected_gene': 'MRPS21P5', 'score': 0.07}]
chr10 GH10I028177 28177682 28179582 1.28 [{'connected_gene': 'MKX-AS1', 'score': 10.94}, {'connected_gene': 'MKX', 'score': 10.94}, {'connected_gene': 'LRRC37A6P', 'score': 4.69}, {'connected_gene': 'MIR8086', 'score': 0.14}, {'connected_gene': 'MPP7', 'score': 0.1}, {'connected_gene': 'MRPS21P5', 'score': 0.09}]
chr10 GH10I028179 28179592 28179761 0.76 [{'connected_gene': 'MKX-AS1', 'score': 10.94}, {'connected_gene': 'MKX', 'score': 10.94}, {'connected_gene': 'LRRC37A6P', 'score': 4.57}, {'connected_gene': 'MIR8086', 'score': 0.14}, {'connected_gene': 'MPP7', 'score': 0.1}, {'connected_gene': 'MRPS21P5', 'score': 0.1}]
chr10 GH10I027679 27679326 27680436 0.4 [{'connected_gene': 'MKX-AS1', 'score': 10.6}, {'connected_gene': 'MKX', 'score': 10.6}, {'connected_gene': 'PTCHD3', 'score': 4.42}, {'connected_gene': 'GC10M027690', 'score': 0.39}, {'connected_gene': 'LOC105376463', 'score': 0.14}]
chr10 GH10I028243 28242912 28243061 0.51 [{'connected_gene': 'MKX-AS1', 'score': 10.95}, {'connected_gene': 'MKX', 'score': 10.95}, {'connected_gene': 'MPP7', 'score': 10.38}, {'connected_gene': 'MIR8086', 'score': 0.25}, {'connected_gene': 'MRPS21P5', 'score': 0.07}]
chr10 GH10I028242 28242599 28242847 0.51 [{'connected_gene': 'MKX-AS1', 'score': 10.95}, {'connected_gene': 'MKX', 'score': 10.95}, {'connected_gene': 'MPP7', 'score': 10.38}, {'connected_gene': 'MIR8086', 'score': 0.25}, {'connected_gene': 'MRPS21P5', 'score': 0.07}]
chr10 GH10I028241 28241812 28242061 0.85 [{'connected_gene': 'MKX-AS1', 'score': 10.95}, {'connected_gene': 'MKX', 'score': 10.95}, {'connected_gene': 'MPP7', 'score': 10.38}, {'connected_gene': 'MIR8086', 'score': 0.25}, {'connected_gene': 'MRPS21P5', 'score': 0.07}]
chr10 GH10I028236 28236626 28237386 0.38 [{'connected_gene': 'MKX-AS1', 'score': 10.47}, {'connected_gene': 'MKX', 'score': 10.47}, {'connected_gene': 'MPP7', 'score': 5.13}, {'connected_gene': 'MIR8086', 'score': 0.23}, {'connected_gene': 'MRPS21P5', 'score': 0.07}]
chr10 GH10I028186 28186437 28187360 0.2 [{'connected_gene': 'MKX-AS1', 'score': 10.67}, {'connected_gene': 'MKX', 'score': 10.67}, {'connected_gene': 'MPP7', 'score': 5.18}, {'connected_gene': 'MIR8086', 'score': 0.15}, {'connected_gene': 'MRPS21P5', 'score': 0.09}]
chr10 GH10I027724 27724228 27724863 0.38 [{'connected_gene': 'MKX-AS1', 'score': 0.34}, {'connected_gene': 'MKX', 'score': 0.34}, {'connected_gene': 'GC10M027690', 'score': 0.29}]
chr10 GH10I027745 27745809 27745981 1.15 [{'connected_gene': 'MKX-AS1', 'score': 550.77}, {'connected_gene': 'MKX', 'score': 550.77}]
chr10 GH10I027742 27741152 27741301 0.43 [{'connected_gene': 'MKX-AS1', 'score': 0.77}, {'connected_gene': 'MKX', 'score': 0.77}, {'connected_gene': 'GC10M027690', 'score': 0.23}]
chr10 GH10I027725 27725192 27725341 0.2 [{'connected_gene': 'MKX-AS1', 'score': 0.37}, {'connected_gene': 'MKX', 'score': 0.34}, {'connected_gene': 'GC10M027690', 'score': 0.29}]
chr10 GH10I027741 27741732 27745681 1.32 [{'connected_gene': 'MKX-AS1', 'score': 550.77}, {'connected_gene': 'MKX', 'score': 0.77}, {'connected_gene': 'GC10M027690', 'score': 0.23}]
chr10 GH10I027723 27723469 27724071 0.31 [{'connected_gene': 'MKX-AS1', 'score': 0.34}, {'connected_gene': 'MKX', 'score': 0.34}, {'connected_gene': 'GC10M027690', 'score': 0.29}]
chr10 GH10I027746 27746292 27746441 0.31 [{'connected_gene': 'MKX-AS1', 'score': 550.77}, {'connected_gene': 'MKX', 'score': 550.77}, {'connected_gene': 'GC10P027778', 'score': 0.29}]
chr10 GH10I027701 27701941 27702400 0.31 [{'connected_gene': 'GC10M027690', 'score': 0.39}, {'connected_gene': 'MKX-AS1', 'score': 0.26}, {'connected_gene': 'MKX', 'score': 0.26}]