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
ENST00000417220 [[51976360, 51976724], [51976945, 51977062], [51977364, 51977554], [51978104, 51978233], [51978405, 51978594], [51978793, 51978926], [51979013, 51979240], [51979510, 51979660], [51979868, 51979955], [51980181, 51980359], [51981755, 51981911], [51982326, 51982878]] [[51977371, 51977554], [51978104, 51978233], [51978405, 51978594], [51978793, 51978926], [51979013, 51979240], [51979510, 51979660], [51979868, 51979955], [51980181, 51980359], [51981755, 51981911], [51982326, 51982496]]
ENST00000431474 [[51976360, 51976724], [51977364, 51977554], [51978104, 51978233], [51978405, 51978594], [51978793, 51978926], [51979013, 51979240], [51979510, 51979660], [51979868, 51979955], [51980181, 51980359], [51981755, 51981911], [51982326, 51982883]] [[51977371, 51977554], [51978104, 51978233], [51978405, 51978594], [51978793, 51978926], [51979013, 51979240], [51979510, 51979660], [51979868, 51979955], [51980181, 51980359], [51981755, 51981911], [51982326, 51982496]]
ENST00000398755 [[51976374, 51976724], [51977369, 51977554], [51978104, 51978233], [51978405, 51978594], [51978793, 51978926], [51979013, 51979240], [51979510, 51979660], [51979868, 51979955], [51980181, 51980359], [51981755, 51981911], [51982326, 51982878]] [[51976705, 51976724], [51977369, 51977554], [51978104, 51978233], [51978405, 51978594], [51978793, 51978926], [51979013, 51979240], [51979510, 51979660], [51979868, 51979955], [51980181, 51980359], [51981755, 51981911], [51982326, 51982496]]
ENST00000471971 [[51976386, 51976724], [51977364, 51977554], [51978104, 51978233], [51978405, 51978594], [51978793, 51978926], [51979013, 51979240], [51979510, 51979660], [51979868, 51979955], [51980181, 51980359], [51981755, 51981911], [51982326, 51982619]] [[51976705, 51976724], [51977364, 51977507]]
ENST00000470601 [[51976952, 51977062], [51977364, 51977554], [51978104, 51978233], [51978405, 51978916]] None
ENST00000470749 [[51977314, 51977554], [51978104, 51978233], [51978405, 51978733]] None
ENST00000498510 [[51977326, 51977554], [51978104, 51978233], [51978405, 51978594], [51978793, 51978926], [51979013, 51979240], [51979510, 51979644]] [[51977371, 51977554], [51978104, 51978233], [51978405, 51978594], [51978793, 51978926], [51979013, 51979240], [51979510, 51979644]]
ENST00000475782 [[51978802, 51979240], [51979510, 51979660], [51979868, 51979955], [51980181, 51980277]] None
ENST00000486510 [[51981640, 51981911], [51982326, 51982498]] None
NM_001003931 [[51976320, 51976724], [51977369, 51977554], [51978104, 51978233], [51978405, 51978594], [51978793, 51978926], [51979013, 51979240], [51979510, 51979660], [51979868, 51979955], [51980181, 51980359], [51981755, 51981911], [51982326, 51982883]] [[51976705, 51976724], [51977369, 51977554], [51978104, 51978233], [51978405, 51978594], [51978793, 51978926], [51979013, 51979240], [51979510, 51979660], [51979868, 51979955], [51980181, 51980359], [51981755, 51981911], [51982326, 51982496]]
NM_005485 [[51976320, 51976724], [51977364, 51977554], [51978104, 51978233], [51978405, 51978594], [51978793, 51978926], [51979013, 51979240], [51979510, 51979660], [51979868, 51979955], [51980181, 51980359], [51981755, 51981911], [51982326, 51982883]] [[51977371, 51977554], [51978104, 51978233], [51978405, 51978594], [51978793, 51978926], [51979013, 51979240], [51979510, 51979660], [51979868, 51979955], [51980181, 51980359], [51981755, 51981911], [51982326, 51982496]]
Promoter
Chrom Start End Description
chr3 51976284 51976325 CAGE_peak_3_at_PARP3_5end
chr3 51976338 51976429 CAGE_peak_1_at_PARP3_5end
chr3 51976825 51976837 CAGE_peak_9_at_PARP3_5end
chr3 51976840 51976851 CAGE_peak_11_at_PARP3_5end
chr3 51976988 51977042 CAGE_peak_2_at_PARP3_5end
chr3 51977260 51977283 CAGE_peak_5_at_PARP3_5end
chr3 51977294 51977320 CAGE_peak_4_at_PARP3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I051980 51980789 51987619 2.27 [{'connected_gene': 'ABHD14B', 'score': 550.77}, {'connected_gene': 'ACY1', 'score': 550.77}, {'connected_gene': 'GPR62', 'score': 15.16}, {'connected_gene': 'PARP3', 'score': 7.59}, {'connected_gene': 'RPL29', 'score': 5.93}, {'connected_gene': 'ABHD14A-ACY1', 'score': 0.44}, {'connected_gene': 'ABHD14A', 'score': 0.39}]
chr3 GH03I052027 52027849 52036352 0.83 [{'connected_gene': 'NEK4', 'score': 10.03}, {'connected_gene': 'PARP3', 'score': 4.64}, {'connected_gene': 'ABHD14A', 'score': 4.6}, {'connected_gene': 'ITIH4', 'score': 4.23}, {'connected_gene': 'SPCS1', 'score': 3.95}, {'connected_gene': 'LOC105377088', 'score': 0.77}, {'connected_gene': 'GC03P052016', 'score': 0.37}]
chr3 GH03I051994 51994047 51996554 2.09 [{'connected_gene': 'RPL29', 'score': 550.77}, {'connected_gene': 'PBRM1', 'score': 37.11}, {'connected_gene': 'RRP9', 'score': 32.57}, {'connected_gene': 'RAD54L2', 'score': 21.59}, {'connected_gene': 'ABHD14B', 'score': 13.81}, {'connected_gene': 'NISCH', 'score': 11.12}, {'connected_gene': 'GNL3', 'score': 9.69}, {'connected_gene': 'PARP3', 'score': 6.4}, {'connected_gene': 'NT5DC2', 'score': 6.05}]
chr3 GH03I051973 51973200 51977017 2.24 [{'connected_gene': 'PCBP4', 'score': 550.77}, {'connected_gene': 'ABHD14A-ACY1', 'score': 550.77}, {'connected_gene': 'ABHD14A', 'score': 550.77}, {'connected_gene': 'ENSG00000272762', 'score': 550.77}, {'connected_gene': 'PARP3', 'score': 7.64}, {'connected_gene': 'NT5DC2', 'score': 5.33}, {'connected_gene': 'ACY1', 'score': 0.44}, {'connected_gene': 'ABHD14B', 'score': 0.44}]
chr3 GH03I051966 51966064 51969836 2.02 [{'connected_gene': 'PCBP4', 'score': 550.44}, {'connected_gene': 'PARP3', 'score': 8.19}, {'connected_gene': 'GC03P051963', 'score': 0.77}, {'connected_gene': 'ABHD14A', 'score': 0.77}, {'connected_gene': 'ENSG00000272762', 'score': 0.44}, {'connected_gene': 'ABHD14B', 'score': 0.37}]
chr3 GH03I051955 51955129 51957143 1.44 [{'connected_gene': 'GPR62', 'score': 554.83}, {'connected_gene': 'RPL29', 'score': 33.15}, {'connected_gene': 'NISCH', 'score': 14.95}, {'connected_gene': 'GLT8D1', 'score': 14.31}, {'connected_gene': 'RAD54L2', 'score': 12.13}, {'connected_gene': 'NT5DC2', 'score': 9.55}, {'connected_gene': 'PARP3', 'score': 6.3}, {'connected_gene': 'GC03P051963', 'score': 0.44}]
chr3 GH03I051990 51990845 51993878 0.77 [{'connected_gene': 'GPR62', 'score': 11.32}, {'connected_gene': 'DUSP7', 'score': 10.96}, {'connected_gene': 'RAD54L2', 'score': 10.55}, {'connected_gene': 'PARP3', 'score': 6.67}, {'connected_gene': 'RPL29', 'score': 6.33}, {'connected_gene': 'ABHD14B', 'score': 4.36}, {'connected_gene': 'RBM15B', 'score': 3.57}]
chr3 GH03I051953 51953159 51953754 0.87 [{'connected_gene': 'GPR62', 'score': 550.77}, {'connected_gene': 'ENSG00000280422', 'score': 550.77}, {'connected_gene': 'PARP3', 'score': 0.39}]
chr3 GH03I051940 51940694 51943929 2.05 [{'connected_gene': 'PARP3', 'score': 559.63}, {'connected_gene': 'RRP9', 'score': 550.77}, {'connected_gene': 'ABHD14A', 'score': 10.22}, {'connected_gene': 'RPL29', 'score': 7.02}, {'connected_gene': 'ENSG00000280422', 'score': 0.39}]
chr3 GH03I052215 52215619 52221037 1.28 [{'connected_gene': 'ENSG00000280003', 'score': 550.77}, {'connected_gene': 'GLYCTK', 'score': 22.57}, {'connected_gene': 'PPM1M', 'score': 16.2}, {'connected_gene': 'WDR82', 'score': 11.62}, {'connected_gene': 'MIR135A1', 'score': 11.42}, {'connected_gene': 'GLYCTK-AS1', 'score': 11.42}, {'connected_gene': 'DUSP7', 'score': 10.33}, {'connected_gene': 'TWF2', 'score': 8.4}, {'connected_gene': 'PARP3', 'score': 5.15}, {'connected_gene': 'SERBP1P3', 'score': 4.15}, {'connected_gene': 'PIR51375', 'score': 0.39}, {'connected_gene': 'GC03P052204', 'score': 0.39}]