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
ENST00000481981	[[229406821, 229407117], [229422232, 229422313], [229424475, 229424629]]	None
ENST00000366690	[[229406878, 229407117], [229422232, 229422313], [229424475, 229424590], [229431594, 229431657], [229433228, 229433383], [229434723, 229434819], [229438608, 229438736], [229439552, 229441641]]	[[229407086, 229407117], [229422232, 229422313], [229424475, 229424590], [229431594, 229431657], [229433228, 229433383], [229434723, 229434819], [229438608, 229438724]]
ENST00000473894	[[229406940, 229407117], [229431594, 229431657], [229433228, 229433383], [229434723, 229434819], [229438608, 229438736], [229439552, 229439641]]	None
ENST00000489342	[[229422231, 229422313], [229424475, 229424590], [229424712, 229424946]]	None
NM_001271998	[[229406808, 229407117], [229431594, 229431657], [229433266, 229433383], [229434723, 229434819], [229438608, 229438736], [229439552, 229441641]]	[[229431644, 229431657], [229433266, 229433383], [229434723, 229434819], [229438608, 229438724]]
NR_073545	[[229406808, 229407117], [229422232, 229422313], [229424475, 229424590], [229431594, 229431657], [229433266, 229433383], [229434723, 229434819], [229438608, 229438736], [229439552, 229441641]]	None
NM_004578	[[229406808, 229407117], [229422232, 229422313], [229424475, 229424590], [229431594, 229431657], [229433228, 229433383], [229434723, 229434819], [229438608, 229438736], [229439552, 229441641]]	[[229407086, 229407117], [229422232, 229422313], [229424475, 229424590], [229431594, 229431657], [229433228, 229433383], [229434723, 229434819], [229438608, 229438724]]

Promoter

Chrom	Start	End	Description
chr1	229406833	229406840	CAGE_peak_4_at_RAB4A_5end
chr1	229406847	229406935	CAGE_peak_1_at_RAB4A_5end
chr1	229407001	229407025	CAGE_peak_2_at_RAB4A_5end
chr1	229407038	229407053	CAGE_peak_3_at_RAB4A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I229248	229248868	229249677	0.49	[{'connected_gene': 'TMEM78', 'score': 550.77}, {'connected_gene': 'RAB4A', 'score': 6.49}, {'connected_gene': 'LOC102723935', 'score': 0.44}, {'connected_gene': 'ENSG00000233920', 'score': 0.34}, {'connected_gene': 'GC01M228906', 'score': 0.19}]
chr1	GH01I229267	229267960	229273343	2.46	[{'connected_gene': 'RAB4A', 'score': 556.0}, {'connected_gene': 'LOC105373159', 'score': 550.77}, {'connected_gene': 'NUP133', 'score': 58.34}, {'connected_gene': 'URB2', 'score': 31.69}, {'connected_gene': 'ENSG00000269890', 'score': 21.46}, {'connected_gene': 'HIST3H3', 'score': 18.71}, {'connected_gene': 'CCSAP', 'score': 11.35}, {'connected_gene': 'TAF5L', 'score': 11.15}, {'connected_gene': 'TMEM78', 'score': 10.83}, {'connected_gene': 'ABCB10', 'score': 10.72}, {'connected_gene': 'ENSG00000226920', 'score': 10.08}, {'connected_gene': 'DUSP5P1', 'score': 9.95}, {'connected_gene': 'HMGN2P19', 'score': 9.91}, {'connected_gene': 'PIR40038', 'score': 0.44}, {'connected_gene': 'GC01M228906', 'score': 0.23}]
chr1	GH01I229326	229326201	229326400	0.38	[{'connected_gene': 'RAB4A', 'score': 11.59}, {'connected_gene': 'LOC105373159', 'score': 11.59}, {'connected_gene': 'RNU6-180P', 'score': 10.7}, {'connected_gene': 'GC01M228906', 'score': 0.77}, {'connected_gene': 'CCSAP', 'score': 0.37}]
chr1	GH01I229219	229219696	229224196	1.74	[{'connected_gene': 'NUP133', 'score': 110.44}, {'connected_gene': 'ENSG00000269890', 'score': 51.34}, {'connected_gene': 'URB2', 'score': 40.46}, {'connected_gene': 'HMGN2P19', 'score': 29.8}, {'connected_gene': 'LOC105373159', 'score': 27.96}, {'connected_gene': 'LOC105373158', 'score': 25.02}, {'connected_gene': 'ENSG00000226920', 'score': 22.93}, {'connected_gene': 'HIST3H3', 'score': 19.66}, {'connected_gene': 'TAF5L', 'score': 11.14}, {'connected_gene': 'ABCB10', 'score': 10.71}, {'connected_gene': 'DUSP5P1', 'score': 9.95}, {'connected_gene': 'RAB4A', 'score': 2.01}, {'connected_gene': 'ENSG00000233920', 'score': 0.44}, {'connected_gene': 'GC01M228906', 'score': 0.15}]
chr1	GH01I229252	229252172	229255138	1.53	[{'connected_gene': 'NUP133', 'score': 26.25}, {'connected_gene': 'ENSG00000269890', 'score': 19.43}, {'connected_gene': 'HMGN2P19', 'score': 10.8}, {'connected_gene': 'TAF5L', 'score': 10.77}, {'connected_gene': 'ACTA1', 'score': 10.16}, {'connected_gene': 'ENSG00000226920', 'score': 10.07}, {'connected_gene': 'ABCB10', 'score': 9.98}, {'connected_gene': 'DUSP5P1', 'score': 9.95}, {'connected_gene': 'LOC105373158', 'score': 8.6}, {'connected_gene': 'CCSAP', 'score': 2.73}, {'connected_gene': 'URB2', 'score': 1.95}, {'connected_gene': 'RAB4A', 'score': 1.95}, {'connected_gene': 'LOC102723935', 'score': 0.77}, {'connected_gene': 'TMEM78', 'score': 0.77}, {'connected_gene': 'GC01M228906', 'score': 0.2}]
chr1	GH01I229273	229273360	229274797	1.38	[{'connected_gene': 'CCSAP', 'score': 11.47}, {'connected_gene': 'TMEM78', 'score': 10.83}, {'connected_gene': 'RAB4A', 'score': 4.36}, {'connected_gene': 'GC01P229306', 'score': 0.31}, {'connected_gene': 'GC01P229305', 'score': 0.31}, {'connected_gene': 'GC01M228906', 'score': 0.25}]
chr1	GH01I229286	229286596	229288096	0.63	[{'connected_gene': 'CCSAP', 'score': 22.51}, {'connected_gene': 'ENSG00000237481', 'score': 12.16}, {'connected_gene': 'TMEM78', 'score': 10.88}, {'connected_gene': 'ACTA1', 'score': 10.58}, {'connected_gene': 'GC01P229306', 'score': 0.37}, {'connected_gene': 'RAB4A', 'score': 0.37}, {'connected_gene': 'GC01P229305', 'score': 0.37}, {'connected_gene': 'GC01M228906', 'score': 0.28}]
chr1	GH01I229032	229030754	229031052	0.96	[{'connected_gene': 'CCSAP', 'score': 2.44}, {'connected_gene': 'RAB4A', 'score': 1.72}, {'connected_gene': 'ENSG00000282111', 'score': 0.44}, {'connected_gene': 'GC01P229014', 'score': 0.37}, {'connected_gene': 'GC01M228906', 'score': 0.06}]
chr1	GH01I229295	229295866	229297692	0.43	[{'connected_gene': 'CCSAP', 'score': 22.69}, {'connected_gene': 'ENSG00000237481', 'score': 11.84}, {'connected_gene': 'RAB4A', 'score': 6.25}, {'connected_gene': 'GC01P229306', 'score': 0.44}, {'connected_gene': 'GC01P229305', 'score': 0.44}, {'connected_gene': 'GC01M228906', 'score': 0.31}]
chr1	GH01I229278	229278076	229280092	0.79	[{'connected_gene': 'CCSAP', 'score': 17.88}, {'connected_gene': 'SPHAR', 'score': 11.9}, {'connected_gene': 'ENSG00000237481', 'score': 11.34}, {'connected_gene': 'RNU6-180P', 'score': 10.94}, {'connected_gene': 'TMEM78', 'score': 10.69}, {'connected_gene': 'ACTA1', 'score': 10.18}, {'connected_gene': 'ABCB10', 'score': 9.72}, {'connected_gene': 'RNU4-21P', 'score': 9.56}, {'connected_gene': 'RAB4A', 'score': 6.84}, {'connected_gene': 'GC01P229306', 'score': 0.34}, {'connected_gene': 'GC01P229305', 'score': 0.34}, {'connected_gene': 'GC01M228906', 'score': 0.26}]
chr1	GH01I229280	229280434	229280583	0.83	[{'connected_gene': 'SPHAR', 'score': 11.92}, {'connected_gene': 'ENSG00000237481', 'score': 11.35}, {'connected_gene': 'TMEM78', 'score': 10.89}, {'connected_gene': 'CCSAP', 'score': 10.67}, {'connected_gene': 'ACTA1', 'score': 10.58}, {'connected_gene': 'RNU6-180P', 'score': 10.43}, {'connected_gene': 'RAB4A', 'score': 0.44}, {'connected_gene': 'GC01P229306', 'score': 0.34}, {'connected_gene': 'GC01P229305', 'score': 0.34}, {'connected_gene': 'GC01M228906', 'score': 0.26}]
chr1	GH01I229236	229236693	229241890	0.63	[{'connected_gene': 'LOC105373158', 'score': 9.08}, {'connected_gene': 'RAB4A', 'score': 4.82}, {'connected_gene': 'RNA5SP18', 'score': 4.51}, {'connected_gene': 'ENSG00000233920', 'score': 0.39}, {'connected_gene': 'TMEM78', 'score': 0.39}, {'connected_gene': 'GC01M228906', 'score': 0.18}]
chr1	GH01I229478	229478561	229481578	0.73	[{'connected_gene': 'HMGN2P19', 'score': 33.82}, {'connected_gene': 'TMEM78', 'score': 11.49}, {'connected_gene': 'LOC105373159', 'score': 11.29}, {'connected_gene': 'RAB4A', 'score': 11.29}, {'connected_gene': 'ACTA1', 'score': 10.84}, {'connected_gene': 'RNU4-21P', 'score': 10.84}, {'connected_gene': 'ABCB10', 'score': 10.8}, {'connected_gene': 'RNU6-180P', 'score': 10.72}, {'connected_gene': 'CCSAP', 'score': 10.69}, {'connected_gene': 'GC01M229453', 'score': 0.34}, {'connected_gene': 'NUP133', 'score': 0.31}]
chr1	GH01I229304	229304891	229304950	0.5	[{'connected_gene': 'GC01P229306', 'score': 550.77}, {'connected_gene': 'SPHAR', 'score': 550.77}, {'connected_gene': 'GC01P229305', 'score': 550.77}, {'connected_gene': 'ENSG00000237481', 'score': 0.39}, {'connected_gene': 'GC01M228906', 'score': 0.37}, {'connected_gene': 'RAB4A', 'score': 0.29}]