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
ENST00000517939	[[108911543, 108913418], [108970307, 108970496], [108972901, 108973045], [109001283, 109001472], [109094094, 109094184]]	[[108913302, 108913418], [108970307, 108970496], [108972901, 108973045], [109001283, 109001365]]
ENST00000517781	[[108911543, 108913418], [108970307, 108970493], [108972901, 108973045], [109094772, 109095035], [109095151, 109095431]]	[[108913302, 108913418], [108970307, 108970493], [108972901, 108973045], [109094772, 109094866]]
ENST00000378439	[[108911543, 108913418], [108970307, 108970493], [108972901, 108973045], [109094772, 109095035], [109095424, 109095913]]	[[108913302, 108913418], [108970307, 108970493], [108972901, 108973045], [109094772, 109094866]]
ENST00000276659	[[108911544, 108913418], [108970307, 108970496], [108972901, 108973045], [109001283, 109001472], [109094772, 109095035], [109095424, 109095876]]	[[108913302, 108913418], [108970307, 108970496], [108972901, 108973045], [109001283, 109001472], [109094772, 109094866]]
ENST00000521502	[[108913329, 108913418], [108970307, 108970496], [108972901, 108973045], [109001283, 109001472], [109085254, 109085317]]	[[108913329, 108913418], [108970307, 108970496], [108972901, 108973045], [109001283, 109001365]]
ENST00000521956	[[108972964, 108973045], [109001283, 109001472], [109094772, 109095064]]	[[108972964, 108973045], [109001283, 109001472], [109094772, 109094866]]
ENST00000522333	[[109001336, 109001472], [109094772, 109095035], [109095701, 109095870]]	[[109001336, 109001472], [109094772, 109094866]]
ENST00000521757	[[108970455, 108970496], [108972901, 108973045], [109001283, 109001472], [109001578, 109001783]]	[[108970455, 108970496], [108972901, 108973045], [109001283, 109001365]]
ENST00000520026	[[108972975, 108973045], [109001283, 109001472], [109009139, 109009482]]	[[108972975, 108973045], [109001283, 109001472], [109009139, 109009149]]
NM_001317942	[[108911543, 108913418], [108970307, 108970496], [108972901, 108973045], [109001283, 109001472], [109094094, 109094167]]	[[108913302, 108913418], [108970307, 108970496], [108972901, 108973045], [109001283, 109001365]]
NM_001282863	[[108911543, 108913418], [108970307, 108970493], [108972901, 108973045], [109094772, 109095035], [109095151, 109095431]]	[[108913302, 108913418], [108970307, 108970493], [108972901, 108973045], [109094772, 109094866]]
NM_178565	[[108911543, 108913418], [108970307, 108970496], [108972901, 108973045], [109001283, 109001472], [109094772, 109095035], [109095424, 109095913]]	[[108913302, 108913418], [108970307, 108970496], [108972901, 108973045], [109001283, 109001472], [109094772, 109094866]]

Promoter

Chrom	Start	End	Description
chr8	109095834	109095854	CAGE_peak_1_at_RSPO2_5end
chr8	109095862	109095881	CAGE_peak_2_at_RSPO2_5end
chr8	109095897	109095910	CAGE_peak_3_at_RSPO2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I108119	108119438	108120940	1.21	[{'connected_gene': 'EMC2', 'score': 5.84}, {'connected_gene': 'AURKBPS1', 'score': 0.39}, {'connected_gene': 'RSPO2', 'score': 0.28}]
chr8	GH08I108460	108460078	108466346	0.38	[{'connected_gene': 'EMC2', 'score': 16.86}, {'connected_gene': 'EIF3E', 'score': 11.84}, {'connected_gene': 'RSPO2', 'score': 8.2}, {'connected_gene': 'GC08M108476', 'score': 0.34}]
chr8	GH08I108033	108033325	108034680	0.46	[{'connected_gene': 'EMC2', 'score': 6.5}, {'connected_gene': 'RSPO2', 'score': 0.25}, {'connected_gene': 'NRBF2P4', 'score': 0.23}]
chr8	GH08I108479	108479930	108482202	0.2	[{'connected_gene': 'EMC2', 'score': 16.79}, {'connected_gene': 'RSPO2', 'score': 6.81}, {'connected_gene': 'GC08M108476', 'score': 0.44}]
chr8	GH08I108467	108467602	108469599	1.07	[{'connected_gene': 'EMC2', 'score': 17.56}, {'connected_gene': 'RSPO2', 'score': 8.2}, {'connected_gene': 'GC08M108476', 'score': 0.37}]
chr8	GH08I108442	108442330	108445669	2.25	[{'connected_gene': 'EMC2', 'score': 567.61}, {'connected_gene': 'LOC105375704', 'score': 550.77}, {'connected_gene': 'EIF3E', 'score': 28.95}, {'connected_gene': 'NUDCD1', 'score': 17.82}, {'connected_gene': 'ENY2', 'score': 11.19}, {'connected_gene': 'RSPO2', 'score': 8.45}, {'connected_gene': 'GC08M108476', 'score': 0.26}]
chr8	GH08I108019	108019942	108020088	0.22	[{'connected_gene': 'NRBF2P4', 'score': 0.28}, {'connected_gene': 'RSPO2', 'score': 0.21}]
chr8	GH08I108084	108082473	108082702	0.59	[{'connected_gene': 'RSPO2', 'score': 550.77}, {'connected_gene': 'EMC2', 'score': 6.24}, {'connected_gene': 'NRBF2P4', 'score': 0.15}]
chr8	GH08I108452	108452584	108455353	0.54	[{'connected_gene': 'RSPO2', 'score': 8.56}, {'connected_gene': 'EMC2', 'score': 0.39}, {'connected_gene': 'GC08M108476', 'score': 0.29}]
chr8	GH08I108082	108082993	108083597	1.19	[{'connected_gene': 'RSPO2', 'score': 550.77}, {'connected_gene': 'NRBF2P4', 'score': 0.15}]
chr8	GH08I108083	108083607	108083782	1.19	[{'connected_gene': 'RSPO2', 'score': 550.77}, {'connected_gene': 'AURKBPS1', 'score': 0.25}]
chr8	GH08I108576	108576007	108577310	0.43	[{'connected_gene': 'GC08P108574', 'score': 550.77}, {'connected_gene': 'EMC2', 'score': 9.72}, {'connected_gene': 'RSPO2', 'score': 6.98}, {'connected_gene': 'LOC101060000', 'score': 0.77}, {'connected_gene': 'ENSG00000253949', 'score': 0.77}]
chr8	GH08I107957	107957439	107957840	0.22	[{'connected_gene': 'PIR49283', 'score': 0.34}, {'connected_gene': 'NRBF2P4', 'score': 0.31}, {'connected_gene': 'RSPO2', 'score': 0.13}]