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
ENST00000375851 [[91605777, 91606099], [91606384, 91606610], [91606766, 91611055]] [[91605910, 91606099], [91606384, 91606610], [91606766, 91606903]]
ENST00000375850 [[91605835, 91606099], [91606384, 91606979]] [[91605910, 91606099], [91606384, 91606903]]
ENST00000334490 [[91605842, 91606156], [91606384, 91606610], [91606766, 91611055]] [[91605910, 91606156], [91606384, 91606610], [91606766, 91606903]]
NM_001142413 [[91605777, 91606099], [91606384, 91606610], [91606766, 91611057]] [[91605910, 91606099], [91606384, 91606610], [91606766, 91606903]]
NM_001001938 [[91605777, 91606156], [91606384, 91606610], [91606766, 91611057]] [[91605910, 91606156], [91606384, 91606610], [91606766, 91606903]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I089175 89175909 89181345 2.48 [{'connected_gene': 'SHC3', 'score': 567.8}, {'connected_gene': 'SECISBP2', 'score': 15.76}, {'connected_gene': 'C9orf47', 'score': 2.91}, {'connected_gene': 'ENSG00000224945', 'score': 0.2}]
chr9 GH09I088948 88948918 88951979 1.42 [{'connected_gene': 'C9orf47', 'score': 5.51}, {'connected_gene': 'S1PR3', 'score': 4.68}, {'connected_gene': 'PCNPP2', 'score': 0.34}, {'connected_gene': 'PIR55815', 'score': 0.25}]
chr9 GH09I088923 88923095 88924630 1.17 [{'connected_gene': 'S1PR3', 'score': 2.91}, {'connected_gene': 'C9orf47', 'score': 2.31}, {'connected_gene': 'SECISBP2', 'score': 1.29}, {'connected_gene': 'PIR55815', 'score': 0.37}, {'connected_gene': 'PCNPP2', 'score': 0.25}]
chr9 GH09I088926 88926961 88927963 1.21 [{'connected_gene': 'S1PR3', 'score': 2.5}, {'connected_gene': 'C9orf47', 'score': 1.9}, {'connected_gene': 'SECISBP2', 'score': 1.28}, {'connected_gene': 'PIR55815', 'score': 0.34}, {'connected_gene': 'PCNPP2', 'score': 0.26}]
chr9 GH09I088925 88925537 88925915 0.46 [{'connected_gene': 'S1PR3', 'score': 2.28}, {'connected_gene': 'C9orf47', 'score': 1.51}, {'connected_gene': 'PIR55815', 'score': 0.34}, {'connected_gene': 'PCNPP2', 'score': 0.25}]
chr9 GH09I088935 88935205 88937676 0.79 [{'connected_gene': 'S1PR3', 'score': 2.66}, {'connected_gene': 'C9orf47', 'score': 1.92}, {'connected_gene': 'PIR55815', 'score': 0.29}, {'connected_gene': 'PCNPP2', 'score': 0.29}]
chr9 GH09I088941 88941197 88943398 0.7 [{'connected_gene': 'S1PR3', 'score': 6.22}, {'connected_gene': 'C9orf47', 'score': 5.29}, {'connected_gene': 'PCNPP2', 'score': 0.31}, {'connected_gene': 'PIR55815', 'score': 0.28}]
chr9 GH09I088988 88988826 88992601 1.89 [{'connected_gene': 'S1PR3', 'score': 555.19}, {'connected_gene': 'C9orf47', 'score': 550.77}, {'connected_gene': 'ENSG00000228658', 'score': 0.37}]
chr9 GH09I088993 88993775 88995607 0.31 [{'connected_gene': 'S1PR3', 'score': 0.77}, {'connected_gene': 'C9orf47', 'score': 0.77}, {'connected_gene': 'GC09M089006', 'score': 0.37}]
chr9 GH09I089385 89385720 89386086 0.46 [{'connected_gene': 'SEMA4D', 'score': 4.19}, {'connected_gene': 'SECISBP2', 'score': 2.58}, {'connected_gene': 'C9orf47', 'score': 1.35}, {'connected_gene': 'PIR43063', 'score': 0.29}, {'connected_gene': 'PA2G4P6', 'score': 0.21}]
chr9 GH09I089417 89417490 89430409 1.6 [{'connected_gene': 'SEMA4D', 'score': 24.03}, {'connected_gene': 'CKS2', 'score': 6.08}, {'connected_gene': 'SECISBP2', 'score': 4.48}, {'connected_gene': 'S1PR3', 'score': 1.5}, {'connected_gene': 'C9orf47', 'score': 1.3}, {'connected_gene': 'PA2G4P6', 'score': 0.31}, {'connected_gene': 'PIR43063', 'score': 0.2}]
chr9 GH09I088980 88980609 88981220 0.2 [{'connected_gene': 'ENSG00000228658', 'score': 0.44}, {'connected_gene': 'C9orf47', 'score': 0.44}]
chr9 GH09I089036 89036001 89039371 0.86 [{'connected_gene': 'ENSG00000224945', 'score': 5.74}, {'connected_gene': 'SEMA4D', 'score': 5.34}, {'connected_gene': 'SECISBP2', 'score': 4.77}, {'connected_gene': 'SHC3', 'score': 2.85}, {'connected_gene': 'C9orf47', 'score': 1.57}, {'connected_gene': 'GC09M089006', 'score': 0.31}]