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
ENST00000302692 [[9599540, 9599806], [9613683, 9613863], [9627341, 9627419], [9630315, 9630416], [9633403, 9633470], [9640011, 9640292], [9642356, 9645237]] [[9599750, 9599806], [9613683, 9613863], [9627341, 9627419], [9630315, 9630416], [9633403, 9633470], [9640011, 9640292], [9642356, 9642559]]
NM_032315 [[9599527, 9599806], [9613683, 9613863], [9627341, 9627419], [9630315, 9630416], [9633403, 9633470], [9640011, 9640292], [9642356, 9642831]] [[9599750, 9599806], [9613683, 9613863], [9627341, 9627419], [9630315, 9630416], [9633403, 9633470], [9640011, 9640292], [9642356, 9642559]]
Promoter
Chrom Start End Description
chr1 9599490 9599529 CAGE_peak_1_at_SLC25A33_5end
chr1 9599540 9599560 CAGE_peak_2_at_SLC25A33_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I009542 9542027 9542783 0.74 [{'connected_gene': 'SLC25A33', 'score': 0.77}, {'connected_gene': 'RPL9P11', 'score': 0.29}]
chr1 GH01I009537 9537173 9541691 2.09 [{'connected_gene': 'SLC25A33', 'score': 550.77}, {'connected_gene': 'TMEM201', 'score': 6.31}, {'connected_gene': 'ENSG00000235263', 'score': 0.28}]
chr1 GH01I009274 9274996 9276331 1.54 [{'connected_gene': 'SPSB1', 'score': 9.25}, {'connected_gene': 'H6PD', 'score': 6.64}, {'connected_gene': 'SLC25A33', 'score': 1.23}, {'connected_gene': 'PIR55180', 'score': 0.44}]
chr1 GH01I009135 9135427 9135728 0.66 [{'connected_gene': 'GPR157', 'score': 4.79}, {'connected_gene': 'SLC25A33', 'score': 1.48}, {'connected_gene': 'MIR34A', 'score': 0.37}]
chr1 GH01I009559 9559336 9560221 0.57 [{'connected_gene': 'RPL9P11', 'score': 0.37}, {'connected_gene': 'SLC25A33', 'score': 0.34}]
chr1 GH01I009530 9530952 9531805 0.57 [{'connected_gene': 'MIR34A', 'score': 9.9}, {'connected_gene': 'GPR157', 'score': 9.73}, {'connected_gene': 'SLC25A33', 'score': 0.44}, {'connected_gene': 'ENSG00000235263', 'score': 0.31}]
chr1 GH01I009532 9532482 9533687 0.71 [{'connected_gene': 'MIR34A', 'score': 9.9}, {'connected_gene': 'GPR157', 'score': 9.73}, {'connected_gene': 'SLC25A33', 'score': 0.44}, {'connected_gene': 'ENSG00000235263', 'score': 0.31}]
chr1 GH01I009625 9625746 9631800 1.78 [{'connected_gene': 'PIK3CD', 'score': 567.21}, {'connected_gene': 'LOC105376712', 'score': 550.77}, {'connected_gene': 'SLC25A33', 'score': 11.31}, {'connected_gene': 'TMEM201', 'score': 5.88}]
chr1 GH01I009555 9555297 9556193 0.75 [{'connected_gene': 'TMEM201', 'score': 11.88}, {'connected_gene': 'SLC25A33', 'score': 0.37}, {'connected_gene': 'RPL9P11', 'score': 0.34}]
chr1 GH01I009561 9561063 9562236 1.03 [{'connected_gene': 'DFFA', 'score': 12.35}, {'connected_gene': 'LINC01759', 'score': 10.98}, {'connected_gene': 'GPR157', 'score': 10.05}, {'connected_gene': 'TMEM201', 'score': 5.35}, {'connected_gene': 'RPL9P11', 'score': 0.39}, {'connected_gene': 'SLC25A33', 'score': 0.34}]