PsyMuKB

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
ENST00000328248	[[8243181, 8243823], [8248660, 8248795], [8248985, 8249364]]	[[8243369, 8243823], [8248660, 8248795], [8248985, 8249170]]
ENST00000584943	[[8243187, 8243478], [8248660, 8248795], [8248985, 8249363]]	[[8243369, 8243478], [8248660, 8248795], [8248985, 8249170]]
NM_001319953	[[8243157, 8243478], [8248660, 8248795], [8248985, 8249363]]	[[8243369, 8243478], [8248660, 8248795], [8248985, 8249170]]
NM_153007	[[8243187, 8243823], [8248660, 8248795], [8248985, 8249363]]	[[8243369, 8243823], [8248660, 8248795], [8248985, 8249170]]

Promoter

Chrom	Start	End	Description
chr17	8243154	8243164	CAGE_peak_1_at_ODF4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I008326	8326203	8327800	0.77	[{'connected_gene': 'PFAS', 'score': 24.44}, {'connected_gene': 'CTC1', 'score': 23.49}, {'connected_gene': 'CNTROB', 'score': 18.19}, {'connected_gene': 'POLR2A', 'score': 15.11}, {'connected_gene': 'WRAP53', 'score': 14.6}, {'connected_gene': 'ENSG00000265749', 'score': 13.79}, {'connected_gene': 'ODF4', 'score': 12.42}, {'connected_gene': 'KRBA2', 'score': 11.51}, {'connected_gene': 'SLC25A35', 'score': 11.27}, {'connected_gene': 'RANGRF', 'score': 11.25}, {'connected_gene': 'KDM6B', 'score': 10.61}, {'connected_gene': 'SNORD10', 'score': 10.33}, {'connected_gene': 'AURKB', 'score': 10.0}, {'connected_gene': 'RNF222', 'score': 9.71}, {'connected_gene': 'SNORD118', 'score': 9.65}, {'connected_gene': 'TMEM107', 'score': 9.65}, {'connected_gene': 'ENSG00000226871', 'score': 7.89}, {'connected_gene': 'GC17P008331', 'score': 0.77}]
chr17	GH17I008338	8338001	8339132	1.12	[{'connected_gene': 'ODF4', 'score': 564.53}, {'connected_gene': 'ENSG00000266279', 'score': 550.77}, {'connected_gene': 'ENSG00000226871', 'score': 7.78}, {'connected_gene': 'NDEL1', 'score': 3.34}, {'connected_gene': 'KDM6B', 'score': 1.74}, {'connected_gene': 'PER1', 'score': 1.71}]
chr17	GH17I008362	8362361	8363355	0.72	[{'connected_gene': 'ODF4', 'score': 20.88}, {'connected_gene': 'ENSG00000212206', 'score': 11.35}, {'connected_gene': 'ENSG00000226871', 'score': 11.33}, {'connected_gene': 'RNF222', 'score': 10.57}, {'connected_gene': 'NDEL1', 'score': 9.79}, {'connected_gene': 'LOC100128288', 'score': 0.77}, {'connected_gene': 'ENSG00000265749', 'score': 0.77}]
chr17	GH17I008657	8657438	8657517	0.22	[{'connected_gene': 'ODF4', 'score': 1.68}, {'connected_gene': 'LOC105371525', 'score': 0.39}, {'connected_gene': 'MYH10', 'score': 0.31}]
chr17	GH17I008341	8341603	8341752	0.38	[{'connected_gene': 'ODF4', 'score': 564.42}, {'connected_gene': 'ENSG00000226871', 'score': 7.75}, {'connected_gene': 'LOC100128288', 'score': 0.37}]
chr17	GH17I008339	8339793	8339852	0.5	[{'connected_gene': 'ODF4', 'score': 550.77}, {'connected_gene': 'ENSG00000266279', 'score': 0.77}]
chr17	GH17I008744	8744668	8746522	2.2	[{'connected_gene': 'CCDC42', 'score': 584.24}, {'connected_gene': 'LOC105371529', 'score': 550.77}, {'connected_gene': 'SPDYE4', 'score': 18.79}, {'connected_gene': 'ODF4', 'score': 15.5}, {'connected_gene': 'MFSD6L', 'score': 10.33}]
chr17	GH17I008375	8375356	8377645	2.03	[{'connected_gene': 'KRBA2', 'score': 569.13}, {'connected_gene': 'PIR59981', 'score': 550.77}, {'connected_gene': 'ODF4', 'score': 22.0}, {'connected_gene': 'ENSG00000265749', 'score': 20.23}, {'connected_gene': 'RNF222', 'score': 11.89}, {'connected_gene': 'ENSG00000212206', 'score': 11.2}, {'connected_gene': 'ENSG00000263809', 'score': 0.44}, {'connected_gene': 'RPL26', 'score': 0.44}]
chr17	GH17I008128	8128512	8128667	0.52	[{'connected_gene': 'LOC105376799', 'score': 550.77}, {'connected_gene': 'ODF4', 'score': 31.33}, {'connected_gene': 'SNORD118', 'score': 12.46}, {'connected_gene': 'TMEM107', 'score': 12.44}, {'connected_gene': 'BORCS6', 'score': 11.13}, {'connected_gene': 'CHD3', 'score': 10.64}, {'connected_gene': 'ALOX15B', 'score': 9.91}, {'connected_gene': 'CNTROB', 'score': 2.49}, {'connected_gene': 'TRS-CGA1-1', 'score': 0.39}, {'connected_gene': 'GC17M008512', 'score': 0.39}]
chr17	GH17I008769	8769202	8769376	0.24	[{'connected_gene': 'LOC105371530', 'score': 550.77}, {'connected_gene': 'CCDC42', 'score': 20.86}, {'connected_gene': 'RNF222', 'score': 10.28}, {'connected_gene': 'SPDYE4', 'score': 9.16}, {'connected_gene': 'ODF4', 'score': 8.77}, {'connected_gene': 'MFSD6L', 'score': 3.29}, {'connected_gene': 'GC17P008796', 'score': 0.31}]
chr17	GH17I008359	8359016	8362138	0.93	[{'connected_gene': 'LOC100128288', 'score': 550.77}, {'connected_gene': 'ODF4', 'score': 12.17}, {'connected_gene': 'RPL26', 'score': 11.89}, {'connected_gene': 'ENSG00000212206', 'score': 11.41}, {'connected_gene': 'ENSG00000226871', 'score': 11.33}, {'connected_gene': 'RNF222', 'score': 10.55}, {'connected_gene': 'NDEL1', 'score': 9.79}, {'connected_gene': 'ENSG00000265749', 'score': 0.77}]
chr17	GH17I008379	8379669	8385831	2.11	[{'connected_gene': 'ENSG00000263809', 'score': 550.77}, {'connected_gene': 'RPL26', 'score': 550.77}, {'connected_gene': 'ENSG00000265749', 'score': 30.35}, {'connected_gene': 'PFAS', 'score': 28.34}, {'connected_gene': 'SNORD10', 'score': 24.59}, {'connected_gene': 'EIF4A1', 'score': 24.17}, {'connected_gene': 'CTC1', 'score': 22.26}, {'connected_gene': 'POLR2A', 'score': 22.1}, {'connected_gene': 'SNORA48', 'score': 22.09}, {'connected_gene': 'TP53', 'score': 21.81}, {'connected_gene': 'CNTROB', 'score': 20.93}, {'connected_gene': 'KRBA2', 'score': 18.08}, {'connected_gene': 'PLSCR3', 'score': 13.04}, {'connected_gene': 'ODF4', 'score': 11.91}, {'connected_gene': 'WRAP53', 'score': 11.16}, {'connected_gene': 'RANGRF', 'score': 10.32}, {'connected_gene': 'LOC100996842', 'score': 10.01}, {'connected_gene': 'PER1', 'score': 9.75}]
chr17	GH17I008372	8372543	8372692	0.2	[{'connected_gene': 'ENSG00000212206', 'score': 10.9}, {'connected_gene': 'ODF4', 'score': 10.82}, {'connected_gene': 'RNF222', 'score': 10.43}, {'connected_gene': 'PIR59981', 'score': 0.77}, {'connected_gene': 'KRBA2', 'score': 0.77}, {'connected_gene': 'ENSG00000265749', 'score': 0.44}, {'connected_gene': 'ENSG00000263809', 'score': 0.39}]
chr17	GH17I008393	8393051	8394613	0.69	[{'connected_gene': 'ENSG00000265749', 'score': 18.55}, {'connected_gene': 'ENSG00000226871', 'score': 12.99}, {'connected_gene': 'ODF4', 'score': 10.46}, {'connected_gene': 'MYH10', 'score': 10.33}, {'connected_gene': 'SPDYE4', 'score': 9.87}, {'connected_gene': 'RNF222', 'score': 0.77}, {'connected_gene': 'RPL26', 'score': 0.39}]
chr17	GH17I008364	8364763	8367189	0.93	[{'connected_gene': 'ENSG00000265749', 'score': 571.06}, {'connected_gene': 'ODF4', 'score': 57.41}, {'connected_gene': 'CCDC42', 'score': 53.56}, {'connected_gene': 'SPDYE4', 'score': 46.52}, {'connected_gene': 'ENSG00000212206', 'score': 11.33}, {'connected_gene': 'ENSG00000226871', 'score': 11.31}, {'connected_gene': 'RNF222', 'score': 10.57}, {'connected_gene': 'NDEL1', 'score': 9.8}, {'connected_gene': 'MFSD6L', 'score': 8.88}, {'connected_gene': 'CNTROB', 'score': 2.77}, {'connected_gene': 'PIR59981', 'score': 0.39}]
chr17	GH17I008478	8478983	8481512	0.96	[{'connected_gene': 'PIR41265', 'score': 550.77}, {'connected_gene': 'RNU7-43P', 'score': 11.86}, {'connected_gene': 'MYH10', 'score': 11.67}, {'connected_gene': 'ENSG00000212206', 'score': 10.86}, {'connected_gene': 'RNF222', 'score': 10.78}, {'connected_gene': 'ODF4', 'score': 10.36}, {'connected_gene': 'SPDYE4', 'score': 9.77}, {'connected_gene': 'NDEL1', 'score': 5.68}, {'connected_gene': 'PIR54625', 'score': 0.77}, {'connected_gene': 'GC17P008478', 'score': 0.77}]
chr17	GH17I008477	8477494	8478519	0.83	[{'connected_gene': 'PIR54625', 'score': 550.77}, {'connected_gene': 'GC17P008478', 'score': 550.77}, {'connected_gene': 'RNU7-43P', 'score': 11.86}, {'connected_gene': 'MYH10', 'score': 11.67}, {'connected_gene': 'ENSG00000212206', 'score': 10.87}, {'connected_gene': 'RNF222', 'score': 10.78}, {'connected_gene': 'ODF4', 'score': 10.37}, {'connected_gene': 'SPDYE4', 'score': 9.77}, {'connected_gene': 'PIR41265', 'score': 0.77}, {'connected_gene': 'NDEL1', 'score': 0.21}]
chr17	GH17I008482	8482268	8482915	0.4	[{'connected_gene': 'PIR59191', 'score': 550.77}, {'connected_gene': 'RNU7-43P', 'score': 11.88}, {'connected_gene': 'MYH10', 'score': 11.68}, {'connected_gene': 'ENSG00000212206', 'score': 10.86}, {'connected_gene': 'RNF222', 'score': 10.78}, {'connected_gene': 'ODF4', 'score': 10.36}, {'connected_gene': 'SPDYE4', 'score': 9.77}, {'connected_gene': 'PIR41265', 'score': 0.77}, {'connected_gene': 'NDEL1', 'score': 0.2}]