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
ENST00000602402 [[96329392, 96329591], [96361480, 96361591], [96375495, 96375620], [96377431, 96377506], [96409897, 96410050], [96412293, 96412475], [96412932, 96413052], [96415896, 96416002], [96416086, 96416207], [96438192, 96438325], [96439260, 96439409], [96443126, 96447243]] [[96329509, 96329591], [96361480, 96361591], [96375495, 96375620], [96377431, 96377506], [96409897, 96410050], [96412293, 96412475], [96412932, 96413052], [96415896, 96416002], [96416086, 96416207], [96438192, 96438325], [96439260, 96439409], [96443126, 96443284]]
ENST00000376795 [[96329411, 96329591], [96361480, 96361591], [96375495, 96375620], [96377431, 96377506], [96412293, 96412475], [96412932, 96413052], [96415896, 96416002], [96416086, 96416207], [96438192, 96438325], [96439260, 96439409], [96443126, 96444097]] [[96329509, 96329591], [96361480, 96361591], [96375495, 96375620], [96377431, 96377506], [96412293, 96412475], [96412932, 96413052], [96415896, 96416002], [96416086, 96416207], [96438192, 96438325], [96439260, 96439409], [96443126, 96443284]]
NM_006260 [[96329392, 96329591], [96361480, 96361591], [96375495, 96375620], [96377431, 96377506], [96409897, 96410050], [96412293, 96412475], [96412932, 96413052], [96415896, 96416002], [96416086, 96416207], [96438192, 96438325], [96439260, 96439409], [96443126, 96447243]] [[96329509, 96329591], [96361480, 96361591], [96375495, 96375620], [96377431, 96377506], [96409897, 96410050], [96412293, 96412475], [96412932, 96413052], [96415896, 96416002], [96416086, 96416207], [96438192, 96438325], [96439260, 96439409], [96443126, 96443284]]
Promoter
Chrom Start End Description
chr13 96329361 96329380 CAGE_peak_2_at_DNAJC3_5end
chr13 96329381 96329416 CAGE_peak_1_at_DNAJC3_5end
chr13 96329428 96329439 CAGE_peak_3_at_DNAJC3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I095551 95551998 95553822 1.26 [{'connected_gene': 'CLDN10', 'score': 550.13}, {'connected_gene': 'TGDS', 'score': 9.91}, {'connected_gene': 'DNAJC3', 'score': 6.15}, {'connected_gene': 'DNAJC3-AS1', 'score': 5.48}, {'connected_gene': 'GC13P095540', 'score': 0.39}, {'connected_gene': 'GC13M095580', 'score': 0.31}]
chr13 GH13I095712 95712733 95713091 0.29 [{'connected_gene': 'DNAJC3', 'score': 13.93}, {'connected_gene': 'PIR47331', 'score': 0.39}, {'connected_gene': 'MTCYBP3', 'score': 0.37}]
chr13 GH13I095713 95713777 95713904 0.28 [{'connected_gene': 'DNAJC3', 'score': 10.45}, {'connected_gene': 'PIR47331', 'score': 0.44}, {'connected_gene': 'MTCYBP3', 'score': 0.37}]
chr13 GH13I095656 95656121 95657522 0.62 [{'connected_gene': 'DNAJC3', 'score': 20.89}, {'connected_gene': 'DNAJC3-AS1', 'score': 12.08}, {'connected_gene': 'CLDN10', 'score': 9.79}, {'connected_gene': 'DZIP1', 'score': 0.39}]
chr13 GH13I095675 95675139 95678801 2.05 [{'connected_gene': 'DNAJC3', 'score': 564.34}, {'connected_gene': 'DNAJC3-AS1', 'score': 550.77}, {'connected_gene': 'DZIP1', 'score': 19.93}, {'connected_gene': 'UGGT2', 'score': 14.38}]
chr13 GH13I095678 95678807 95679057 0.38 [{'connected_gene': 'DNAJC3', 'score': 550.77}, {'connected_gene': 'DNAJC3-AS1', 'score': 550.77}, {'connected_gene': 'DZIP1', 'score': 11.27}, {'connected_gene': 'MTND5P2', 'score': 0.39}]
chr13 GH13I095771 95771784 95771829 0.22 [{'connected_gene': 'DNAJC3', 'score': 10.75}, {'connected_gene': 'DNAJC3-AS1', 'score': 10.75}, {'connected_gene': 'GC13P095793', 'score': 0.34}, {'connected_gene': 'ENSG00000276809', 'score': 0.31}]
chr13 GH13I095775 95775148 95775391 0.25 [{'connected_gene': 'UGGT2', 'score': 9.04}, {'connected_gene': 'GC13P095793', 'score': 0.37}, {'connected_gene': 'ENSG00000276809', 'score': 0.29}, {'connected_gene': 'DNAJC3', 'score': 0.15}]
chr13 GH13I095783 95783588 95785408 0.79 [{'connected_gene': 'UGGT2', 'score': 14.72}, {'connected_gene': 'GC13P095793', 'score': 0.44}, {'connected_gene': 'ENSG00000276809', 'score': 0.28}, {'connected_gene': 'DNAJC3', 'score': 0.14}]
chr13 GH13I095714 95714067 95715486 0.88 [{'connected_gene': 'UGGT2', 'score': 14.43}, {'connected_gene': 'PIR47331', 'score': 0.44}, {'connected_gene': 'MTCYBP3', 'score': 0.34}, {'connected_gene': 'DNAJC3', 'score': 0.28}]
chr13 GH13I095707 95707169 95708800 0.63 [{'connected_gene': 'UGGT2', 'score': 15.24}, {'connected_gene': 'MTCYBP3', 'score': 0.39}, {'connected_gene': 'PIR47331', 'score': 0.37}, {'connected_gene': 'DNAJC3', 'score': 0.29}]
chr13 GH13I095564 95564401 95565600 0.77 [{'connected_gene': 'DZIP1', 'score': 5.61}, {'connected_gene': 'CLDN10', 'score': 4.73}, {'connected_gene': 'DNAJC3', 'score': 4.62}, {'connected_gene': 'GC13M095580', 'score': 0.39}, {'connected_gene': 'GC13P095540', 'score': 0.34}]
chr13 GH13I095835 95835829 95836026 0.22 [{'connected_gene': 'DZIP1', 'score': 10.49}, {'connected_gene': 'DNAJC3', 'score': 6.15}, {'connected_gene': 'HMGN1P24', 'score': 0.31}, {'connected_gene': 'GC13M095889', 'score': 0.21}, {'connected_gene': 'UGGT2', 'score': 0.08}]
chr13 GH13I095684 95684002 95684999 0.72 [{'connected_gene': 'DZIP1', 'score': 19.85}, {'connected_gene': 'DNAJC3', 'score': 0.44}, {'connected_gene': 'MTND5P2', 'score': 0.44}]
chr13 GH13I095680 95680601 95681000 0.2 [{'connected_gene': 'DZIP1', 'score': 11.25}, {'connected_gene': 'DNAJC3', 'score': 0.77}, {'connected_gene': 'MTND5P2', 'score': 0.39}]
chr13 GH13I095679 95679267 95679416 0.31 [{'connected_gene': 'DZIP1', 'score': 11.27}, {'connected_gene': 'UGGT2', 'score': 5.58}, {'connected_gene': 'DNAJC3', 'score': 0.77}, {'connected_gene': 'MTND5P2', 'score': 0.39}]
chr13 GH13I095641 95641219 95642441 1.64 [{'connected_gene': 'DZIP1', 'score': 550.77}, {'connected_gene': 'DNAJC3-AS1', 'score': 18.7}, {'connected_gene': 'DNAJC3', 'score': 11.51}, {'connected_gene': 'GC13M095581', 'score': 0.22}]
chr13 GH13I095724 95724368 95724427 0.26 [{'connected_gene': 'PIR47331', 'score': 550.77}, {'connected_gene': 'DNAJC3', 'score': 20.19}, {'connected_gene': 'DNAJC3-AS1', 'score': 10.95}, {'connected_gene': 'ENSG00000276809', 'score': 0.34}]
chr13 GH13I095787 95787927 95788076 0.31 [{'connected_gene': 'GC13P095793', 'score': 0.77}, {'connected_gene': 'ENSG00000276809', 'score': 0.26}, {'connected_gene': 'DNAJC3', 'score': 0.14}]
chr13 GH13I095780 95780607 95780756 0.2 [{'connected_gene': 'GC13P095793', 'score': 0.39}, {'connected_gene': 'ENSG00000276809', 'score': 0.28}, {'connected_gene': 'DNAJC3', 'score': 0.15}]
chr13 GH13I095540 95540511 95541639 0.31 [{'connected_gene': 'GC13P095540', 'score': 550.77}, {'connected_gene': 'DZIP1', 'score': 10.84}, {'connected_gene': 'CLDN10', 'score': 9.26}, {'connected_gene': 'UGGT2', 'score': 6.13}, {'connected_gene': 'DNAJC3', 'score': 4.65}, {'connected_gene': 'GC13M095580', 'score': 0.28}]
chr13 GH13I095710 95710447 95710596 0.2 [{'connected_gene': 'PIR47331', 'score': 0.39}, {'connected_gene': 'MTCYBP3', 'score': 0.37}, {'connected_gene': 'DNAJC3', 'score': 0.29}]