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
ENST00000306422 [[76924537, 76926619], [76932645, 76933055], [76934337, 76935513]] [[76926088, 76926619], [76932645, 76933055], [76934337, 76934374]]
ENST00000515716 [[76931755, 76932537], [76932645, 76932818]] None
NM_032109 [[76924536, 76926619], [76932645, 76933055], [76934337, 76934522]] [[76926088, 76926619], [76932645, 76933055], [76934337, 76934374]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I077629 77629319 77631543 1.41 [{'connected_gene': 'SCAMP1-AS1', 'score': 10.39}, {'connected_gene': 'RPL7P23', 'score': 9.9}, {'connected_gene': 'GC05M077626', 'score': 0.77}, {'connected_gene': 'WDR41', 'score': 0.44}, {'connected_gene': 'OTP', 'score': 0.44}]
chr5 GH05I077959 77959669 77961283 0.6 [{'connected_gene': 'TBCA', 'score': 21.76}, {'connected_gene': 'ALDH7A1P1', 'score': 16.13}, {'connected_gene': 'OTP', 'score': 10.55}, {'connected_gene': 'ENSG00000253572', 'score': 0.39}, {'connected_gene': 'TRQ-TTG7-1', 'score': 0.21}]
chr5 GH05I077761 77761717 77761866 0.2 [{'connected_gene': 'TBCA', 'score': 11.11}, {'connected_gene': 'OTP', 'score': 10.88}, {'connected_gene': 'GC05M077761', 'score': 0.77}, {'connected_gene': 'GC05M077749', 'score': 0.44}]
chr5 GH05I077672 77672050 77672183 0.22 [{'connected_gene': 'TBCA', 'score': 1.29}, {'connected_gene': 'GC05M077675', 'score': 0.44}, {'connected_gene': 'OTP', 'score': 0.29}]
chr5 GH05I077774 77773927 77777145 2.04 [{'connected_gene': 'TBCA', 'score': 563.56}, {'connected_gene': 'LOC105379045', 'score': 550.77}, {'connected_gene': 'PIR43480', 'score': 550.77}, {'connected_gene': 'OTP', 'score': 10.08}]
chr5 GH05I077645 77645011 77645571 1.56 [{'connected_gene': 'RPL7P23', 'score': 27.18}, {'connected_gene': 'SCAMP1', 'score': 16.95}, {'connected_gene': 'WDR41', 'score': 11.88}, {'connected_gene': 'AP3B1', 'score': 11.69}, {'connected_gene': 'AGGF1', 'score': 10.02}, {'connected_gene': 'OTP', 'score': 0.44}, {'connected_gene': 'GC05M077675', 'score': 0.29}]
chr5 GH05I077681 77681200 77681402 0.48 [{'connected_gene': 'OTP', 'score': 17.62}, {'connected_gene': 'TBCA', 'score': 12.33}, {'connected_gene': 'GC05M077675', 'score': 0.77}, {'connected_gene': 'GC05P077690', 'score': 0.44}]
chr5 GH05I077862 77862546 77864042 0.2 [{'connected_gene': 'OTP', 'score': 9.57}, {'connected_gene': 'TBCA', 'score': 0.44}, {'connected_gene': 'GC05P077817', 'score': 0.25}]
chr5 GH05I077881 77881701 77882113 1.01 [{'connected_gene': 'OTP', 'score': 4.78}, {'connected_gene': 'LOC101929154', 'score': 0.77}, {'connected_gene': 'GC05P077869', 'score': 0.39}, {'connected_gene': 'GC05P077817', 'score': 0.21}]
chr5 GH05I077639 77639400 77640441 0.86 [{'connected_gene': 'OTP', 'score': 550.77}, {'connected_gene': 'GC05M077675', 'score': 0.28}]
chr5 GH05I077644 77644181 77644519 0.76 [{'connected_gene': 'OTP', 'score': 0.77}, {'connected_gene': 'GC05M077675', 'score': 0.29}]
chr5 GH05I077646 77645616 77645745 0.72 [{'connected_gene': 'OTP', 'score': 0.44}, {'connected_gene': 'GC05M077675', 'score': 0.29}]
chr5 GH05I077777 77777617 77777766 0.57 [{'connected_gene': 'LOC105379045', 'score': 550.77}, {'connected_gene': 'TBCA', 'score': 10.94}, {'connected_gene': 'OTP', 'score': 10.08}, {'connected_gene': 'ACTBP2', 'score': 0.44}]
chr5 GH05I077595 77595373 77595597 0.4 [{'connected_gene': 'GC05P077595', 'score': 550.77}, {'connected_gene': 'OTP', 'score': 11.58}, {'connected_gene': 'WDR41', 'score': 0.31}]
chr5 GH05I077662 77662624 77663015 0.7 [{'connected_gene': 'GC05M077675', 'score': 0.37}, {'connected_gene': 'OTP', 'score': 0.34}]
chr5 GH05I077679 77679800 77680201 0.49 [{'connected_gene': 'GC05M077675', 'score': 550.77}, {'connected_gene': 'OTP', 'score': 10.67}, {'connected_gene': 'GC05P077690', 'score': 0.39}]
chr5 GH05I077633 77633853 77634343 0.51 [{'connected_gene': 'GC05M077626', 'score': 550.77}, {'connected_gene': 'OTP', 'score': 0.44}]