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
ENST00000373408 [[37450695, 37451065], [37452585, 37452638], [37452875, 37452970], [37467597, 37467698]] [[37450961, 37451065], [37452585, 37452638], [37452875, 37452970], [37467597, 37467639]]
NM_138493 [[37450695, 37451065], [37452585, 37452638], [37452875, 37452970], [37467597, 37467700]] [[37450961, 37451065], [37452585, 37452638], [37452875, 37452970], [37467597, 37467639]]
Promoter
Chrom Start End Description
chr6 37467628 37467705 CAGE_peak_1_at_CCDC167_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I037497 37497082 37497394 1.02 [{'connected_gene': 'SRSF3', 'score': 13.0}, {'connected_gene': 'CCDC167', 'score': 0.77}, {'connected_gene': 'CMTR1', 'score': 0.21}]
chr6 GH06I037794 37794565 37795649 0.2 [{'connected_gene': 'MDGA1', 'score': 10.81}, {'connected_gene': 'CCDC167', 'score': 4.55}, {'connected_gene': 'ENSG00000225945', 'score': 0.34}, {'connected_gene': 'GC06P042404', 'score': 0.16}]
chr6 GH06I037473 37473276 37473819 0.62 [{'connected_gene': 'CMTR1', 'score': 11.11}, {'connected_gene': 'MDGA1', 'score': 10.8}, {'connected_gene': 'RNF8', 'score': 10.2}, {'connected_gene': 'CCDC167', 'score': 0.31}]
chr6 GH06I037454 37454905 37455054 0.31 [{'connected_gene': 'CMTR1', 'score': 11.53}, {'connected_gene': 'CCDC167', 'score': 0.26}]
chr6 GH06I037489 37489385 37491488 1.14 [{'connected_gene': 'CMTR1', 'score': 1.63}, {'connected_gene': 'CCDC167', 'score': 0.44}]
chr6 GH06I037432 37432439 37434647 2.08 [{'connected_gene': 'CMTR1', 'score': 550.77}, {'connected_gene': 'LINC02520', 'score': 15.77}, {'connected_gene': 'FGD2', 'score': 10.92}, {'connected_gene': 'RNF8', 'score': 10.46}, {'connected_gene': 'CCDC167', 'score': 0.2}]
chr6 GH06I037498 37498835 37506397 2.72 [{'connected_gene': 'CCDC167', 'score': 550.77}, {'connected_gene': 'ENSG00000227920', 'score': 17.14}, {'connected_gene': 'SRSF3', 'score': 12.83}, {'connected_gene': 'STK38', 'score': 12.59}, {'connected_gene': 'CMTR1', 'score': 11.41}, {'connected_gene': 'LINC02520', 'score': 0.77}]
chr6 GH06I037428 37428185 37428334 0.69 [{'connected_gene': 'CCDC167', 'score': 5.81}, {'connected_gene': 'CMTR1', 'score': 0.77}, {'connected_gene': 'RN7SL273P', 'score': 0.2}]
chr6 GH06I037559 37559009 37566914 1.57 [{'connected_gene': 'CCDC167', 'score': 11.68}, {'connected_gene': 'CMTR1', 'score': 11.67}, {'connected_gene': 'LINC02520', 'score': 11.57}, {'connected_gene': 'MDGA1', 'score': 10.56}, {'connected_gene': 'TBC1D22B', 'score': 10.46}, {'connected_gene': 'SRSF3', 'score': 10.42}, {'connected_gene': 'TMEM217', 'score': 4.56}, {'connected_gene': 'ENSG00000279942', 'score': 0.77}, {'connected_gene': 'MIR4462', 'score': 0.44}]
chr6 GH06I037499 37497705 37497854 0.57 [{'connected_gene': 'CCDC167', 'score': 0.77}, {'connected_gene': 'CMTR1', 'score': 0.21}]
chr6 GH06I037578 37578856 37580020 0.59 [{'connected_gene': 'CCDC167', 'score': 5.86}, {'connected_gene': 'ENSG00000279942', 'score': 0.39}, {'connected_gene': 'GC06M038599', 'score': 0.19}]
chr6 GH06I037987 37987515 37991908 0.94 [{'connected_gene': 'RNU1-87P', 'score': 12.44}, {'connected_gene': 'CMTR1', 'score': 12.21}, {'connected_gene': 'ZFAND3', 'score': 10.47}, {'connected_gene': 'ENSG00000225945', 'score': 10.47}, {'connected_gene': 'MDGA1', 'score': 9.98}, {'connected_gene': 'BTBD9-AS1', 'score': 9.16}, {'connected_gene': 'CCDC167', 'score': 4.49}, {'connected_gene': 'ENSG00000218521', 'score': 0.39}]
chr6 GH06I037556 37556631 37557619 1.15 [{'connected_gene': 'MIR4462', 'score': 550.77}, {'connected_gene': 'LINC02520', 'score': 11.59}, {'connected_gene': 'CCDC167', 'score': 11.13}, {'connected_gene': 'ENSG00000279942', 'score': 0.39}]
chr6 GH06I037484 37484498 37485049 0.6 [{'connected_gene': 'LINC02520', 'score': 11.61}, {'connected_gene': 'MDGA1', 'score': 11.26}, {'connected_gene': 'CCDC167', 'score': 0.37}, {'connected_gene': 'CMTR1', 'score': 0.23}]
chr6 GH06I037485 37484265 37484454 0.87 [{'connected_gene': 'LINC02520', 'score': 11.61}, {'connected_gene': 'MDGA1', 'score': 11.26}, {'connected_gene': 'CCDC167', 'score': 0.37}, {'connected_gene': 'CMTR1', 'score': 0.23}]
chr6 GH06I037547 37547013 37556311 1.59 [{'connected_gene': 'LINC02520', 'score': 11.61}, {'connected_gene': 'CCDC167', 'score': 11.14}, {'connected_gene': 'CMTR1', 'score': 1.29}, {'connected_gene': 'ENSG00000229559', 'score': 0.77}, {'connected_gene': 'MIR4462', 'score': 0.77}, {'connected_gene': 'ENSG00000227920', 'score': 0.44}]
chr6 GH06I037535 37535601 37536600 1.02 [{'connected_gene': 'LINC02520', 'score': 12.59}, {'connected_gene': 'CCDC167', 'score': 12.03}, {'connected_gene': 'GC06M038608', 'score': 0.77}, {'connected_gene': 'ENSG00000227920', 'score': 0.44}]
chr6 GH06I037538 37538245 37538374 0.68 [{'connected_gene': 'LINC02520', 'score': 12.58}, {'connected_gene': 'CCDC167', 'score': 12.03}, {'connected_gene': 'GC06M038608', 'score': 0.77}, {'connected_gene': 'ENSG00000227920', 'score': 0.44}]
chr6 GH06I037506 37506895 37507732 0.38 [{'connected_gene': 'LINC02520', 'score': 559.13}, {'connected_gene': 'CCDC167', 'score': 0.44}]
chr6 GH06I037441 37441786 37443599 0.66 [{'connected_gene': 'ENSG00000227920', 'score': 15.39}, {'connected_gene': 'RNF8', 'score': 10.1}, {'connected_gene': 'CMTR1', 'score': 0.44}, {'connected_gene': 'CCDC167', 'score': 0.22}]
chr6 GH06I037491 37491777 37493962 0.87 [{'connected_gene': 'ENSG00000227920', 'score': 18.09}, {'connected_gene': 'MDGA1', 'score': 11.02}, {'connected_gene': 'CCDC167', 'score': 0.44}, {'connected_gene': 'CMTR1', 'score': 0.22}]
chr6 GH06I037459 37459718 37460849 0.95 [{'connected_gene': 'ENSG00000227920', 'score': 5.01}, {'connected_gene': 'CMTR1', 'score': 0.31}, {'connected_gene': 'CCDC167', 'score': 0.28}]
chr6 GH06I037567 37567715 37568664 0.31 [{'connected_gene': 'ENSG00000279942', 'score': 550.77}, {'connected_gene': 'CCDC167', 'score': 10.4}, {'connected_gene': 'MDGA1', 'score': 10.01}, {'connected_gene': 'GC06M038599', 'score': 0.18}]
chr6 GH06I037487 37487078 37489086 0.52 [{'connected_gene': 'ENSG00000227920', 'score': 15.47}, {'connected_gene': 'CCDC167', 'score': 6.01}, {'connected_gene': 'TMEM217', 'score': 5.85}, {'connected_gene': 'CMTR1', 'score': 0.23}]
chr6 GH06I037511 37511111 37518597 1.28 [{'connected_gene': 'ENSG00000227920', 'score': 28.01}, {'connected_gene': 'LINC02520', 'score': 21.39}, {'connected_gene': 'CMTR1', 'score': 11.72}, {'connected_gene': 'TBC1D22B', 'score': 10.47}, {'connected_gene': 'SRSF3', 'score': 10.42}, {'connected_gene': 'CCDC167', 'score': 5.22}, {'connected_gene': 'GC06M038608', 'score': 0.37}]
chr6 GH06I037455 37455799 37458004 0.63 [{'connected_gene': 'ENSG00000227920', 'score': 15.26}, {'connected_gene': 'LINC02520', 'score': 11.45}, {'connected_gene': 'TMEM217', 'score': 5.97}, {'connected_gene': 'CMTR1', 'score': 0.34}, {'connected_gene': 'CCDC167', 'score': 0.26}]