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
ENST00000371019 [[99092254, 99094458]] [[99093627, 99094329]]
NM_012083 [[99092253, 99094458]] [[99093627, 99094329]]
Promoter
Chrom Start End Description
chr10 99094236 99094266 CAGE_peak_2_at_FRAT2_5end
chr10 99094458 99094500 CAGE_peak_1_at_FRAT2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I097336 97336150 97338666 0.96 [{'connected_gene': 'SLIT1', 'score': 15.66}, {'connected_gene': 'R3HCC1L', 'score': 14.76}, {'connected_gene': 'NPM1P26', 'score': 14.69}, {'connected_gene': 'EXOSC1', 'score': 13.31}, {'connected_gene': 'RPL13AP5', 'score': 11.1}, {'connected_gene': 'LOXL4', 'score': 10.94}, {'connected_gene': 'MARVELD1', 'score': 10.65}, {'connected_gene': 'LCOR', 'score': 10.33}, {'connected_gene': 'TM9SF3', 'score': 10.2}, {'connected_gene': 'PGAM1', 'score': 7.63}, {'connected_gene': 'LOC105378448', 'score': 0.77}, {'connected_gene': 'FRAT2', 'score': 0.77}, {'connected_gene': 'RPL34P20', 'score': 0.22}]
chr10 GH10I097405 97405602 97409373 1.68 [{'connected_gene': 'FRAT2', 'score': 38.71}, {'connected_gene': 'RRP12', 'score': 38.21}, {'connected_gene': 'FRAT1', 'score': 22.34}, {'connected_gene': 'ARHGAP19', 'score': 21.03}, {'connected_gene': 'ZDHHC16', 'score': 12.56}, {'connected_gene': 'EXOSC1', 'score': 12.56}, {'connected_gene': 'MMS19', 'score': 10.45}, {'connected_gene': 'UBTD1', 'score': 10.45}, {'connected_gene': 'ENSG00000249967', 'score': 10.11}, {'connected_gene': 'HOGA1', 'score': 10.11}, {'connected_gene': 'C10orf62', 'score': 10.1}, {'connected_gene': 'PI4K2A', 'score': 10.09}, {'connected_gene': 'ZFYVE27', 'score': 3.63}, {'connected_gene': 'LCOR', 'score': 1.67}, {'connected_gene': 'ENSG00000231970', 'score': 0.44}, {'connected_gene': 'ENSG00000200737', 'score': 0.39}, {'connected_gene': 'GC10M097424', 'score': 0.39}, {'connected_gene': 'LOC644215', 'score': 0.37}]
chr10 GH10I097349 97349775 97350897 0.63 [{'connected_gene': 'RRP12', 'score': 23.21}, {'connected_gene': 'ARHGAP19', 'score': 11.29}, {'connected_gene': 'SLIT1', 'score': 10.08}, {'connected_gene': 'FRAT2', 'score': 0.37}, {'connected_gene': 'RPL34P20', 'score': 0.26}]
chr10 GH10I097355 97355202 97357334 0.97 [{'connected_gene': 'RRP12', 'score': 34.14}, {'connected_gene': 'ARHGAP19', 'score': 24.29}, {'connected_gene': 'SLIT1', 'score': 9.92}, {'connected_gene': 'SLIT1-AS1', 'score': 9.89}, {'connected_gene': 'ENSG00000249967', 'score': 9.63}, {'connected_gene': 'HOGA1', 'score': 9.63}, {'connected_gene': 'C10orf62', 'score': 9.63}, {'connected_gene': 'PI4K2A', 'score': 9.62}, {'connected_gene': 'PGAM1', 'score': 7.32}, {'connected_gene': 'FRAT2', 'score': 0.34}, {'connected_gene': 'RPL34P20', 'score': 0.28}]
chr10 GH10I097353 97353402 97354999 0.8 [{'connected_gene': 'RRP12', 'score': 32.82}, {'connected_gene': 'ARHGAP19', 'score': 24.28}, {'connected_gene': 'PI4K2A', 'score': 11.64}, {'connected_gene': 'SLIT1', 'score': 10.08}, {'connected_gene': 'SLIT1-AS1', 'score': 10.05}, {'connected_gene': 'ENSG00000249967', 'score': 9.76}, {'connected_gene': 'HOGA1', 'score': 9.76}, {'connected_gene': 'C10orf62', 'score': 9.75}, {'connected_gene': 'FRAT1', 'score': 8.16}, {'connected_gene': 'FRAT2', 'score': 7.97}, {'connected_gene': 'ZFYVE27', 'score': 4.51}, {'connected_gene': 'LCOR', 'score': 2.75}, {'connected_gene': 'RPL34P20', 'score': 0.28}]
chr10 GH10I097389 97389652 97391435 0.31 [{'connected_gene': 'RRP12', 'score': 43.02}, {'connected_gene': 'ARHGAP19', 'score': 22.73}, {'connected_gene': 'PGAM1', 'score': 19.16}, {'connected_gene': 'ENSG00000200737', 'score': 11.94}, {'connected_gene': 'MMS19', 'score': 10.43}, {'connected_gene': 'UBTD1', 'score': 10.43}, {'connected_gene': 'ENSG00000249967', 'score': 10.32}, {'connected_gene': 'HOGA1', 'score': 10.32}, {'connected_gene': 'C10orf62', 'score': 10.31}, {'connected_gene': 'PI4K2A', 'score': 10.3}, {'connected_gene': 'RPL34P20', 'score': 0.77}, {'connected_gene': 'FRAT2', 'score': 0.22}]
chr10 GH10I097368 97368470 97370335 0.2 [{'connected_gene': 'RRP12', 'score': 34.25}, {'connected_gene': 'ARHGAP19', 'score': 18.92}, {'connected_gene': 'ENSG00000200737', 'score': 11.96}, {'connected_gene': 'PGAM1', 'score': 11.95}, {'connected_gene': 'MMS19', 'score': 9.95}, {'connected_gene': 'UBTD1', 'score': 9.95}, {'connected_gene': 'RPL34P20', 'score': 0.34}, {'connected_gene': 'FRAT2', 'score': 0.29}]
chr10 GH10I097379 97379573 97382097 0.38 [{'connected_gene': 'RRP12', 'score': 37.67}, {'connected_gene': 'ARHGAP19', 'score': 23.45}, {'connected_gene': 'ENSG00000200737', 'score': 12.11}, {'connected_gene': 'PGAM1', 'score': 12.1}, {'connected_gene': 'RPL34P20', 'score': 0.39}, {'connected_gene': 'FRAT2', 'score': 0.25}]
chr10 GH10I097364 97364988 97367545 0.78 [{'connected_gene': 'RRP12', 'score': 34.14}, {'connected_gene': 'ARHGAP19', 'score': 13.67}, {'connected_gene': 'PGAM1', 'score': 7.42}, {'connected_gene': 'RPL34P20', 'score': 0.31}, {'connected_gene': 'FRAT2', 'score': 0.29}]
chr10 GH10I097412 97412498 97415636 1.54 [{'connected_gene': 'RRP12', 'score': 22.23}, {'connected_gene': 'EXOSC1', 'score': 12.54}, {'connected_gene': 'ZDHHC16', 'score': 12.54}, {'connected_gene': 'MMS19', 'score': 10.39}, {'connected_gene': 'UBTD1', 'score': 10.39}, {'connected_gene': 'PGAM1', 'score': 8.6}, {'connected_gene': 'LCOR', 'score': 7.57}, {'connected_gene': 'ZFYVE27', 'score': 6.77}, {'connected_gene': 'ARHGAP19', 'score': 5.94}, {'connected_gene': 'FRAT1', 'score': 1.62}, {'connected_gene': 'FRAT2', 'score': 1.46}, {'connected_gene': 'PI4K2A', 'score': 1.39}, {'connected_gene': 'GC10M097424', 'score': 0.44}, {'connected_gene': 'ENSG00000200737', 'score': 0.44}, {'connected_gene': 'ENSG00000231970', 'score': 0.39}, {'connected_gene': 'LOC644215', 'score': 0.39}]
chr10 GH10I097387 97387918 97389212 0.31 [{'connected_gene': 'RRP12', 'score': 37.87}, {'connected_gene': 'ENSG00000200737', 'score': 11.94}, {'connected_gene': 'PGAM1', 'score': 11.92}, {'connected_gene': 'ARHGAP19', 'score': 10.69}, {'connected_gene': 'MMS19', 'score': 10.42}, {'connected_gene': 'UBTD1', 'score': 10.42}, {'connected_gene': 'ENSG00000249967', 'score': 10.31}, {'connected_gene': 'HOGA1', 'score': 10.31}, {'connected_gene': 'C10orf62', 'score': 10.31}, {'connected_gene': 'PI4K2A', 'score': 10.3}, {'connected_gene': 'RPL34P20', 'score': 0.77}, {'connected_gene': 'FRAT2', 'score': 0.23}]
chr10 GH10I097331 97331217 97336082 2.27 [{'connected_gene': 'LOC105378448', 'score': 550.77}, {'connected_gene': 'FRAT2', 'score': 550.77}, {'connected_gene': 'EXOSC1', 'score': 28.46}, {'connected_gene': 'RPL13AP5', 'score': 23.93}, {'connected_gene': 'NPM1P26', 'score': 23.33}, {'connected_gene': 'R3HCC1L', 'score': 20.94}, {'connected_gene': 'LOXL4', 'score': 20.23}, {'connected_gene': 'ENSG00000230928', 'score': 19.77}, {'connected_gene': 'TM9SF3', 'score': 19.33}, {'connected_gene': 'SLIT1', 'score': 16.59}, {'connected_gene': 'MARVELD1', 'score': 14.97}, {'connected_gene': 'ARHGAP19', 'score': 13.55}, {'connected_gene': 'LCOR', 'score': 10.67}, {'connected_gene': 'ZFYVE27', 'score': 9.75}, {'connected_gene': 'FRAT1', 'score': 0.39}]
chr10 GH10I097372 97372601 97372800 0.58 [{'connected_gene': 'ENSG00000200737', 'score': 11.98}, {'connected_gene': 'PGAM1', 'score': 11.96}, {'connected_gene': 'ARHGAP19', 'score': 10.95}, {'connected_gene': 'MMS19', 'score': 9.79}, {'connected_gene': 'UBTD1', 'score': 9.79}, {'connected_gene': 'RPL34P20', 'score': 0.34}, {'connected_gene': 'FRAT2', 'score': 0.28}, {'connected_gene': 'RRP12', 'score': 0.23}]