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
ENST00000304874	[[65540784, 65540843], [65541025, 65541080], [65546789, 65546984], [65547354, 65547438], [65547866, 65547923], [65548063, 65548161], [65551571, 65551649], [65551730, 65551808], [65552320, 65552373], [65552715, 65552778], [65553793, 65553908], [65554077, 65554162], [65554262, 65554322], [65554598, 65554682], [65556992, 65557073], [65557543, 65557650], [65557754, 65558545]]	[[65541068, 65541080], [65546789, 65546984], [65547354, 65547438], [65547866, 65547923], [65548063, 65548161], [65551571, 65551649], [65551730, 65551808], [65552320, 65552373], [65552715, 65552778], [65553793, 65553908], [65554077, 65554162], [65554262, 65554322], [65554598, 65554682], [65556992, 65557073], [65557543, 65557650], [65557754, 65557899]]
ENST00000487982	[[65540820, 65540843], [65541025, 65541080], [65546789, 65546984], [65547354, 65547438], [65547866, 65547923], [65548063, 65548161], [65551571, 65551649], [65551730, 65552147]]	None
ENST00000496336	[[65540827, 65541080], [65546789, 65546984], [65547354, 65547438], [65547866, 65548330]]	None
ENST00000380839	[[65540852, 65541080], [65546789, 65546984], [65547354, 65547438], [65547866, 65547923], [65548063, 65548161], [65551571, 65551649], [65552320, 65552373], [65552715, 65552778], [65553793, 65553908], [65554077, 65554162], [65554262, 65554322], [65554598, 65554682], [65556992, 65557073], [65557543, 65557650], [65557754, 65558131]]	[[65541068, 65541080], [65546789, 65546984], [65547354, 65547438], [65547866, 65547923], [65548063, 65548161], [65551571, 65551649], [65552320, 65552373], [65552715, 65552778], [65553793, 65553908], [65554077, 65554162], [65554262, 65554322], [65554598, 65554682], [65556992, 65557073], [65557543, 65557650], [65557754, 65557899]]
ENST00000395332	[[65540860, 65541080], [65546789, 65546984], [65547354, 65547438], [65547866, 65547923], [65548063, 65548161], [65551571, 65551649], [65551730, 65551808], [65552320, 65552373], [65552715, 65552778], [65553793, 65553908], [65554077, 65554162], [65554262, 65554322], [65554598, 65554682], [65556992, 65557073], [65557543, 65557650], [65557754, 65557918]]	[[65541068, 65541080], [65546789, 65546984], [65547354, 65547438], [65547866, 65547923], [65548063, 65548161], [65551571, 65551649], [65551730, 65551808], [65552320, 65552373], [65552715, 65552778], [65553793, 65553908], [65554077, 65554162], [65554262, 65554322], [65554598, 65554682], [65556992, 65557073], [65557543, 65557650], [65557754, 65557899]]
ENST00000362000	[[65540866, 65541080], [65547354, 65547438], [65547866, 65547923], [65548063, 65548161], [65551571, 65551649], [65551730, 65551808], [65552320, 65552373], [65552715, 65552778], [65553793, 65553908], [65554077, 65554165]]	[[65541068, 65541080], [65547354, 65547438], [65547866, 65547923], [65548063, 65548161], [65551571, 65551649], [65551730, 65551808], [65552320, 65552373], [65552715, 65552778], [65553793, 65553908], [65554077, 65554165]]
ENST00000395331	[[65540870, 65541080], [65546789, 65546984], [65547354, 65547438], [65547866, 65547923], [65548063, 65548161], [65551571, 65551649], [65551730, 65551808], [65552320, 65552373], [65552715, 65552778], [65553793, 65553908], [65554077, 65554162], [65554598, 65554682], [65556992, 65557073], [65557543, 65557650], [65557754, 65557904]]	[[65541068, 65541080], [65546789, 65546984], [65547354, 65547438], [65547866, 65547923], [65548063, 65548161], [65551571, 65551649], [65551730, 65551808], [65552320, 65552373], [65552715, 65552778], [65553793, 65553908], [65554077, 65554162], [65554598, 65554682], [65556992, 65557073], [65557543, 65557650], [65557754, 65557899]]
ENST00000493708	[[65552679, 65552778], [65553793, 65553908], [65554077, 65554322], [65554598, 65554682], [65556992, 65557073], [65557543, 65557650], [65557754, 65557908]]	None
ENST00000488343	[[65554075, 65554162], [65554262, 65554322], [65557890, 65557941]]	None
ENST00000464970	[[65554225, 65554322], [65554598, 65554682], [65556712, 65556796], [65556992, 65557073], [65557543, 65557650], [65557754, 65557941]]	None
NM_000048	[[65540775, 65540843], [65541025, 65541080], [65546789, 65546984], [65547354, 65547438], [65547866, 65547923], [65548063, 65548161], [65551571, 65551649], [65551730, 65551808], [65552320, 65552373], [65552715, 65552778], [65553793, 65553908], [65554077, 65554162], [65554262, 65554322], [65554598, 65554682], [65556992, 65557073], [65557543, 65557650], [65557754, 65558330]]	[[65541068, 65541080], [65546789, 65546984], [65547354, 65547438], [65547866, 65547923], [65548063, 65548161], [65551571, 65551649], [65551730, 65551808], [65552320, 65552373], [65552715, 65552778], [65553793, 65553908], [65554077, 65554162], [65554262, 65554322], [65554598, 65554682], [65556992, 65557073], [65557543, 65557650], [65557754, 65557899]]
NM_001024946	[[65540833, 65541080], [65546789, 65546984], [65547354, 65547438], [65547866, 65547923], [65548063, 65548161], [65551571, 65551649], [65552320, 65552373], [65552715, 65552778], [65553793, 65553908], [65554077, 65554162], [65554262, 65554322], [65554598, 65554682], [65556992, 65557073], [65557543, 65557650], [65557754, 65558330]]	[[65541068, 65541080], [65546789, 65546984], [65547354, 65547438], [65547866, 65547923], [65548063, 65548161], [65551571, 65551649], [65552320, 65552373], [65552715, 65552778], [65553793, 65553908], [65554077, 65554162], [65554262, 65554322], [65554598, 65554682], [65556992, 65557073], [65557543, 65557650], [65557754, 65557899]]
NM_001024944	[[65540833, 65541080], [65546789, 65546984], [65547354, 65547438], [65547866, 65547923], [65548063, 65548161], [65551571, 65551649], [65551730, 65551808], [65552320, 65552373], [65552715, 65552778], [65553793, 65553908], [65554077, 65554162], [65554598, 65554682], [65556992, 65557073], [65557543, 65557650], [65557754, 65558330]]	[[65541068, 65541080], [65546789, 65546984], [65547354, 65547438], [65547866, 65547923], [65548063, 65548161], [65551571, 65551649], [65551730, 65551808], [65552320, 65552373], [65552715, 65552778], [65553793, 65553908], [65554077, 65554162], [65554598, 65554682], [65556992, 65557073], [65557543, 65557650], [65557754, 65557899]]
NM_001024943	[[65540833, 65541080], [65546789, 65546984], [65547354, 65547438], [65547866, 65547923], [65548063, 65548161], [65551571, 65551649], [65551730, 65551808], [65552320, 65552373], [65552715, 65552778], [65553793, 65553908], [65554077, 65554162], [65554262, 65554322], [65554598, 65554682], [65556992, 65557073], [65557543, 65557650], [65557754, 65558330]]	[[65541068, 65541080], [65546789, 65546984], [65547354, 65547438], [65547866, 65547923], [65548063, 65548161], [65551571, 65551649], [65551730, 65551808], [65552320, 65552373], [65552715, 65552778], [65553793, 65553908], [65554077, 65554162], [65554262, 65554322], [65554598, 65554682], [65556992, 65557073], [65557543, 65557650], [65557754, 65557899]]

Promoter

Chrom	Start	End	Description
chr7	65540780	65540796	CAGE_peak_4_at_ASL_5end
chr7	65540799	65540829	CAGE_peak_1_at_ASL_5end
chr7	65540865	65540895	CAGE_peak_3_at_ASL_5end
chr7	65540903	65540930	CAGE_peak_2_at_ASL_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr7	GH07I066075	66075174	66078291	2.02	[{'connected_gene': 'ASL', 'score': 550.77}, {'connected_gene': 'LOC100996437', 'score': 38.05}, {'connected_gene': 'VKORC1L1', 'score': 28.22}, {'connected_gene': 'RABGEF1', 'score': 15.6}, {'connected_gene': 'TPST1', 'score': 10.71}, {'connected_gene': 'GC07P066070', 'score': 0.44}, {'connected_gene': 'ENSG00000249319', 'score': 0.39}]
chr7	GH07I066144	66144475	66153612	1.3	[{'connected_gene': 'LOC100996437', 'score': 48.99}, {'connected_gene': 'VKORC1L1', 'score': 28.26}, {'connected_gene': 'GS1-124K5.4', 'score': 21.75}, {'connected_gene': 'RABGEF1', 'score': 15.62}, {'connected_gene': 'ENSG00000229180', 'score': 12.5}, {'connected_gene': 'TPST1', 'score': 11.44}, {'connected_gene': 'ASL', 'score': 3.05}, {'connected_gene': 'PIR31229', 'score': 0.39}, {'connected_gene': 'GC07P066141', 'score': 0.39}, {'connected_gene': 'ENSG00000234185', 'score': 0.37}, {'connected_gene': 'CRCP', 'score': 0.29}, {'connected_gene': 'ENSG00000249319', 'score': 0.21}]