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
ENST00000458222 [[158900585, 158900778], [158901460, 158901566], [158906680, 158906965], [158908186, 158908332], [158908869, 158908910]] [[158906700, 158906965], [158908186, 158908332], [158908869, 158908910]]
ENST00000368140 [[158901341, 158901566], [158906680, 158906965], [158908186, 158908332], [158908869, 158909037], [158911766, 158912189], [158913579, 158913768], [158914664, 158914832], [158943436, 158943561], [158946490, 158946844]] [[158906700, 158906965], [158908186, 158908332], [158908869, 158909037], [158911766, 158912189], [158913579, 158913768], [158914664, 158914832], [158943436, 158943556]]
ENST00000368138 [[158901348, 158901566], [158906680, 158906965], [158908213, 158908332], [158908869, 158909037], [158911766, 158912189], [158913579, 158913768], [158914664, 158914832], [158943436, 158943561], [158946490, 158946518]] [[158906700, 158906965], [158908213, 158908332], [158908869, 158909037], [158911766, 158912189], [158913579, 158913768], [158914664, 158914832], [158943436, 158943556]]
ENST00000392254 [[158901349, 158901566], [158906680, 158906965], [158908186, 158908332], [158908869, 158909037], [158911766, 158912189], [158913579, 158913768], [158914664, 158914832], [158946490, 158946518]] [[158906700, 158906965], [158908186, 158908332], [158908869, 158909037], [158911766, 158912189], [158913579, 158913768], [158914664, 158914832]]
ENST00000392252 [[158901349, 158901566], [158906680, 158906965], [158908213, 158908332], [158908869, 158909037], [158911766, 158912189], [158913579, 158913768], [158914664, 158914832], [158946490, 158946518]] [[158906700, 158906965], [158908213, 158908332], [158908869, 158909037], [158911766, 158912189], [158913579, 158913768], [158914664, 158914832]]
ENST00000368135 [[158901357, 158901566], [158906680, 158906965], [158908186, 158908332], [158908869, 158909037], [158909192, 158910046]] [[158906700, 158906965], [158908186, 158908332], [158908869, 158909037], [158909192, 158909351]]
ENST00000485134 [[158911766, 158912189], [158913579, 158913768], [158914664, 158915181]] None
NM_198930 [[158901336, 158901566], [158906680, 158906965], [158908213, 158908332], [158908869, 158909037], [158911766, 158912189], [158913579, 158913768], [158914664, 158914832], [158946490, 158946849]] [[158906700, 158906965], [158908213, 158908332], [158908869, 158909037], [158911766, 158912189], [158913579, 158913768], [158914664, 158914832], [158946490, 158946517]]
NM_198928 [[158901336, 158901566], [158906680, 158906965], [158908213, 158908332], [158908869, 158909037], [158911766, 158912189], [158913579, 158913768], [158914664, 158914832], [158943436, 158943561], [158946490, 158946849]] [[158906700, 158906965], [158908213, 158908332], [158908869, 158909037], [158911766, 158912189], [158913579, 158913768], [158914664, 158914832], [158943436, 158943556]]
NM_198929 [[158901336, 158901566], [158906680, 158906965], [158908186, 158908332], [158908869, 158909037], [158911766, 158912189], [158913579, 158913768], [158914664, 158914832], [158946490, 158946849]] [[158906700, 158906965], [158908186, 158908332], [158908869, 158909037], [158911766, 158912189], [158913579, 158913768], [158914664, 158914832], [158946490, 158946517]]
NM_152501 [[158901336, 158901566], [158906680, 158906965], [158908186, 158908332], [158908869, 158909037], [158911766, 158912189], [158913579, 158913768], [158914664, 158914832], [158943436, 158943561], [158946490, 158946849]] [[158906700, 158906965], [158908186, 158908332], [158908869, 158909037], [158911766, 158912189], [158913579, 158913768], [158914664, 158914832], [158943436, 158943556]]
Promoter
Chrom Start End Description
chr1 158900568 158900580 CAGE_peak_4_at_PYHIN1_5end
chr1 158901312 158901319 CAGE_peak_2_at_PYHIN1_5end
chr1 158901329 158901366 CAGE_peak_1_at_PYHIN1_5end
chr1 158901412 158901423 CAGE_peak_3_at_PYHIN1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I158808 158808601 158811200 0.79 [{'connected_gene': 'OR10AA1P', 'score': 550.77}, {'connected_gene': 'MNDA', 'score': 14.81}, {'connected_gene': 'OR6N2', 'score': 11.29}, {'connected_gene': 'OR6N1', 'score': 10.41}, {'connected_gene': 'OR6K2', 'score': 9.47}, {'connected_gene': 'PYHIN1', 'score': 1.82}, {'connected_gene': 'IFI16', 'score': 1.23}]
chr1 GH01I158969 158969438 158970560 0.43 [{'connected_gene': 'OR6N2', 'score': 10.44}, {'connected_gene': 'OR6N1', 'score': 10.08}, {'connected_gene': 'OR10X1', 'score': 9.56}, {'connected_gene': 'ACKR1', 'score': 5.26}, {'connected_gene': 'PIR57461', 'score': 0.44}, {'connected_gene': 'IFI16', 'score': 0.31}, {'connected_gene': 'PYHIN1', 'score': 0.28}]
chr1 GH01I158818 158818401 158820469 1.61 [{'connected_gene': 'MNDA', 'score': 17.09}, {'connected_gene': 'CD1D', 'score': 4.5}, {'connected_gene': 'PYHIN1', 'score': 1.31}, {'connected_gene': 'IFI16', 'score': 1.21}, {'connected_gene': 'OR10AA1P', 'score': 0.39}]
chr1 GH01I158800 158800201 158804400 1 [{'connected_gene': 'MNDA', 'score': 25.29}, {'connected_gene': 'OR6N1', 'score': 11.2}, {'connected_gene': 'OR6N2', 'score': 11.09}, {'connected_gene': 'PYHIN1', 'score': 1.75}, {'connected_gene': 'IFI16', 'score': 1.35}, {'connected_gene': 'OR2AQ1P', 'score': 0.44}, {'connected_gene': 'OR10AA1P', 'score': 0.44}]
chr1 GH01I159004 159004768 159017376 2.67 [{'connected_gene': 'IFI16', 'score': 569.21}, {'connected_gene': 'OR6N2', 'score': 10.04}, {'connected_gene': 'CADM3-AS1', 'score': 9.97}, {'connected_gene': 'RAD1P2', 'score': 9.97}, {'connected_gene': 'ACKR1', 'score': 6.26}, {'connected_gene': 'AIM2', 'score': 2.44}, {'connected_gene': 'PYHIN1', 'score': 1.42}, {'connected_gene': 'GC01M159011', 'score': 0.77}]
chr1 GH01I158933 158933365 158934232 0.38 [{'connected_gene': 'ACKR1', 'score': 6.25}, {'connected_gene': 'PYHIN1', 'score': 0.77}, {'connected_gene': 'PIR57461', 'score': 0.31}]
chr1 GH01I158972 158972927 158973135 0.42 [{'connected_gene': 'FCER1A', 'score': 9.49}, {'connected_gene': 'OR6N1', 'score': 7.46}, {'connected_gene': 'OR6K3', 'score': 5.78}, {'connected_gene': 'OR10Z1', 'score': 5.33}, {'connected_gene': 'DUSP23', 'score': 4.35}, {'connected_gene': 'OR10R2', 'score': 4.02}, {'connected_gene': 'OR10X1', 'score': 3.6}, {'connected_gene': 'OR6N2', 'score': 3.56}, {'connected_gene': 'PYHIN1', 'score': 2.72}, {'connected_gene': 'OR6P1', 'score': 2.0}, {'connected_gene': 'OR10J1', 'score': 1.65}, {'connected_gene': 'PIR57461', 'score': 0.39}, {'connected_gene': 'IFI16', 'score': 0.31}]
chr1 GH01I158997 158997131 158997280 0.4 [{'connected_gene': 'PYHIN1', 'score': 4.35}, {'connected_gene': 'IFI16', 'score': 0.77}, {'connected_gene': 'PIR57461', 'score': 0.29}]
chr1 GH01I158929 158929652 158932540 1.01 [{'connected_gene': 'PYHIN1', 'score': 550.77}, {'connected_gene': 'ACKR1', 'score': 5.06}, {'connected_gene': 'PIR57461', 'score': 0.29}]
chr1 GH01I158978 158978457 158979039 0.2 [{'connected_gene': 'PIR57461', 'score': 0.37}, {'connected_gene': 'IFI16', 'score': 0.34}, {'connected_gene': 'PYHIN1', 'score': 0.25}]