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
ENST00000337702 [[40714576, 40716600], [40728446, 40728578], [40730363, 40730445], [40746899, 40747121], [40755925, 40756077]] [[40716246, 40716600], [40728446, 40728578], [40730363, 40730445]]
ENST00000503936 [[40715237, 40716600], [40746899, 40747121], [40755925, 40756047]] None
ENST00000504251 [[40716045, 40716600], [40728446, 40728578], [40746899, 40747121], [40755925, 40756062]] None
ENST00000511730 [[40716246, 40716600], [40730363, 40730445], [40746899, 40747121], [40755925, 40756051]] None
NM_012382 [[40711677, 40716600], [40728446, 40728578], [40730363, 40730445], [40746899, 40747121], [40755925, 40756072]] [[40716246, 40716600], [40728446, 40728578], [40730363, 40730445]]
Promoter
Chrom Start End Description
chr5 40755987 40756077 CAGE_peak_1_at_TTC33_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I040672 40672001 40673000 1.03 [{'connected_gene': 'CARD6', 'score': 19.27}, {'connected_gene': 'PRKAA1', 'score': 4.59}, {'connected_gene': 'PTGER4', 'score': 4.22}, {'connected_gene': 'LOC105374738', 'score': 0.44}, {'connected_gene': 'ENSG00000199552', 'score': 0.37}, {'connected_gene': 'TTC33', 'score': 0.18}]
chr5 GH05I040783 40783500 40785973 0.84 [{'connected_gene': 'CARD6', 'score': 18.23}, {'connected_gene': 'TTC33', 'score': 17.38}, {'connected_gene': 'SNORD72', 'score': 11.55}, {'connected_gene': 'RPL37', 'score': 11.54}, {'connected_gene': 'ENSG00000212567', 'score': 0.44}, {'connected_gene': 'GC05M040791', 'score': 0.44}, {'connected_gene': 'PRKAA1', 'score': 0.39}]
chr5 GH05I040699 40699644 40701187 0.31 [{'connected_gene': 'CARD6', 'score': 17.21}, {'connected_gene': 'TTC33', 'score': 6.1}, {'connected_gene': 'GC05M040716', 'score': 0.39}, {'connected_gene': 'PTGER4', 'score': 0.34}]
chr5 GH05I040646 40646359 40646508 0.2 [{'connected_gene': 'CARD6', 'score': 4.4}, {'connected_gene': 'GC05P040654', 'score': 0.44}, {'connected_gene': 'GC05P040610', 'score': 0.28}, {'connected_gene': 'TTC33', 'score': 0.14}]
chr5 GH05I040668 40668546 40670932 0.31 [{'connected_gene': 'CARD6', 'score': 6.08}, {'connected_gene': 'LOC105374738', 'score': 0.44}, {'connected_gene': 'ENSG00000199552', 'score': 0.39}, {'connected_gene': 'TTC33', 'score': 0.17}]
chr5 GH05I040832 40832135 40836822 2.35 [{'connected_gene': 'SNORD72', 'score': 550.77}, {'connected_gene': 'RPL37', 'score': 550.77}, {'connected_gene': 'GC05M040833', 'score': 550.77}, {'connected_gene': 'PRKAA1', 'score': 52.14}, {'connected_gene': 'CARD6', 'score': 18.56}, {'connected_gene': 'TTC33', 'score': 13.27}, {'connected_gene': 'PLCXD3', 'score': 4.82}]
chr5 GH05I040674 40674520 40690311 2.65 [{'connected_gene': 'PTGER4', 'score': 564.48}, {'connected_gene': 'CARD6', 'score': 7.07}, {'connected_gene': 'TTC33', 'score': 6.34}, {'connected_gene': 'PRKAA1', 'score': 1.22}, {'connected_gene': 'LOC105374738', 'score': 0.77}, {'connected_gene': 'GC05M040716', 'score': 0.29}]
chr5 GH05I040514 40514987 40515301 0.24 [{'connected_gene': 'PTGER4', 'score': 22.17}, {'connected_gene': 'CARD6', 'score': 1.3}, {'connected_gene': 'GC05P040507', 'score': 0.44}, {'connected_gene': 'LOC105374737', 'score': 0.18}, {'connected_gene': 'TTC33', 'score': 0.07}]
chr5 GH05I040569 40569451 40571237 1.14 [{'connected_gene': 'PTGER4', 'score': 10.56}, {'connected_gene': 'CARD6', 'score': 2.83}, {'connected_gene': 'LOC105374737', 'score': 0.31}, {'connected_gene': 'GC05P040507', 'score': 0.21}, {'connected_gene': 'TTC33', 'score': 0.09}]
chr5 GH05I040627 40627630 40628831 0.54 [{'connected_gene': 'PTGER4', 'score': 16.21}, {'connected_gene': 'CARD6', 'score': 6.9}, {'connected_gene': 'GC05P040610', 'score': 0.37}, {'connected_gene': 'LOC105374737', 'score': 0.31}, {'connected_gene': 'GC05P040654', 'score': 0.31}, {'connected_gene': 'TTC33', 'score': 0.13}]
chr5 GH05I040521 40521984 40522218 0.5 [{'connected_gene': 'PTGER4', 'score': 16.07}, {'connected_gene': 'CARD6', 'score': 2.36}, {'connected_gene': 'GC05P040507', 'score': 0.39}, {'connected_gene': 'LOC105374737', 'score': 0.18}, {'connected_gene': 'TTC33', 'score': 0.07}]
chr5 GH05I040615 40615202 40617303 1 [{'connected_gene': 'PTGER4', 'score': 13.13}, {'connected_gene': 'PRKAA1', 'score': 4.59}, {'connected_gene': 'GC05P040610', 'score': 0.44}, {'connected_gene': 'LOC105374737', 'score': 0.37}, {'connected_gene': 'GC05P040654', 'score': 0.28}, {'connected_gene': 'TTC33', 'score': 0.12}]
chr5 GH05I040623 40623487 40624237 0.2 [{'connected_gene': 'PTGER4', 'score': 11.5}, {'connected_gene': 'GC05P040610', 'score': 0.39}, {'connected_gene': 'LOC105374737', 'score': 0.34}, {'connected_gene': 'GC05P040654', 'score': 0.29}, {'connected_gene': 'TTC33', 'score': 0.12}]
chr5 GH05I040518 40518039 40519430 0.71 [{'connected_gene': 'PTGER4', 'score': 11.2}, {'connected_gene': 'GC05P040507', 'score': 0.39}, {'connected_gene': 'LOC105374737', 'score': 0.18}, {'connected_gene': 'TTC33', 'score': 0.07}]
chr5 GH05I040550 40550875 40553326 0.91 [{'connected_gene': 'PTGER4', 'score': 5.8}, {'connected_gene': 'GC05P040507', 'score': 0.26}, {'connected_gene': 'LOC105374737', 'score': 0.25}, {'connected_gene': 'TTC33', 'score': 0.08}]
chr5 GH05I040605 40605382 40606400 0.2 [{'connected_gene': 'PTGER4', 'score': 10.97}, {'connected_gene': 'GC05P040610', 'score': 0.77}, {'connected_gene': 'LOC105374737', 'score': 0.44}, {'connected_gene': 'TTC33', 'score': 0.1}]
chr5 GH05I040795 40795401 40800353 2.26 [{'connected_gene': 'PRKAA1', 'score': 550.77}, {'connected_gene': 'CARD6', 'score': 6.54}, {'connected_gene': 'TTC33', 'score': 6.2}, {'connected_gene': 'ENSG00000212567', 'score': 0.44}, {'connected_gene': 'GC05M040791', 'score': 0.44}]
chr5 GH05I040733 40733280 40736548 0.89 [{'connected_gene': 'TTC33', 'score': 17.52}, {'connected_gene': 'PTGER4', 'score': 10.86}, {'connected_gene': 'CARD6', 'score': 6.57}, {'connected_gene': 'GC05M040716', 'score': 0.34}]
chr5 GH05I040691 40691462 40692953 0.2 [{'connected_gene': 'TTC33', 'score': 5.82}, {'connected_gene': 'PTGER4', 'score': 0.39}, {'connected_gene': 'GC05M040716', 'score': 0.34}]
chr5 GH05I040754 40754026 40756588 2.37 [{'connected_gene': 'TTC33', 'score': 556.84}, {'connected_gene': 'PRKAA1', 'score': 24.6}, {'connected_gene': 'CARD6', 'score': 17.49}, {'connected_gene': 'PTGER4', 'score': 4.54}, {'connected_gene': 'GC05M040716', 'score': 0.26}]
chr5 GH05I040673 40673201 40673600 0.4 [{'connected_gene': 'LOC105374738', 'score': 0.44}, {'connected_gene': 'ENSG00000199552', 'score': 0.37}, {'connected_gene': 'TTC33', 'score': 0.18}]
chr5 GH05I040578 40578719 40578868 0.74 [{'connected_gene': 'LOC105374737', 'score': 0.34}, {'connected_gene': 'GC05P040507', 'score': 0.19}, {'connected_gene': 'TTC33', 'score': 0.1}]
chr5 GH05I040571 40571665 40573505 0.4 [{'connected_gene': 'LOC105374737', 'score': 0.31}, {'connected_gene': 'GC05P040507', 'score': 0.21}, {'connected_gene': 'TTC33', 'score': 0.09}]
chr5 GH05I040553 40553598 40555064 0.38 [{'connected_gene': 'LOC105374737', 'score': 0.25}, {'connected_gene': 'GC05P040507', 'score': 0.25}, {'connected_gene': 'TTC33', 'score': 0.08}]
chr5 GH05I040652 40652325 40655501 0.83 [{'connected_gene': 'ENSG00000199552', 'score': 550.77}, {'connected_gene': 'GC05P040654', 'score': 550.77}, {'connected_gene': 'PTGER4', 'score': 14.8}, {'connected_gene': 'CARD6', 'score': 7.1}, {'connected_gene': 'GC05P040610', 'score': 0.26}, {'connected_gene': 'TTC33', 'score': 0.15}]
chr5 GH05I040649 40649001 40650200 0.4 [{'connected_gene': 'GC05P040654', 'score': 0.44}, {'connected_gene': 'GC05P040610', 'score': 0.28}, {'connected_gene': 'TTC33', 'score': 0.14}]
chr5 GH05I040641 40641400 40641601 0.69 [{'connected_gene': 'GC05P040654', 'score': 0.39}, {'connected_gene': 'GC05P040610', 'score': 0.29}, {'connected_gene': 'TTC33', 'score': 0.14}]
chr5 GH05I040548 40548079 40548228 0.72 [{'connected_gene': 'GC05P040507', 'score': 0.26}, {'connected_gene': 'LOC105374737', 'score': 0.23}, {'connected_gene': 'TTC33', 'score': 0.08}]