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
ENST00000339486	[[21032786, 21033466], [21042927, 21043043], [21043930, 21044076], [21044169, 21044277], [21044482, 21044592], [21046096, 21046240], [21047362, 21047490], [21053392, 21053590], [21054911, 21055071], [21056969, 21057050], [21057142, 21057232], [21059280, 21059388], [21061135, 21063104]]	[[21033403, 21033466], [21042927, 21043043], [21043930, 21044076], [21044169, 21044277], [21044482, 21044592], [21046096, 21046240], [21047362, 21047490], [21053392, 21053590], [21054911, 21055071], [21056969, 21057050], [21057142, 21057232], [21059280, 21059388], [21061135, 21061243]]
ENST00000584960	[[21033250, 21033466], [21042927, 21043283]]	None
ENST00000581585	[[21033250, 21033466], [21042927, 21043043], [21043978, 21044076], [21044169, 21044277], [21044482, 21044592], [21046096, 21046240], [21047362, 21047490], [21053392, 21053590], [21054911, 21055071], [21056969, 21057050], [21057142, 21057232], [21059280, 21059388], [21061135, 21061544]]	[[21033403, 21033466], [21042927, 21043043], [21043978, 21044076], [21044169, 21044277], [21044482, 21044592], [21046096, 21046240], [21047362, 21047490], [21053392, 21053590], [21054911, 21055071], [21056969, 21057050], [21057142, 21057232], [21059280, 21059388], [21061135, 21061243]]
ENST00000584052	[[21033251, 21033466], [21042927, 21043043], [21043930, 21044258]]	None
ENST00000581302	[[21033255, 21033466], [21042927, 21043043], [21043930, 21044076], [21044169, 21044277], [21044482, 21044592], [21046096, 21046240], [21047362, 21047490], [21053392, 21053590], [21054911, 21055071], [21056969, 21057232], [21059280, 21059388], [21061135, 21062492]]	None
ENST00000577501	[[21033271, 21033466], [21042927, 21043043], [21043930, 21044076], [21044169, 21044277], [21044482, 21044592], [21046096, 21046240], [21047362, 21047490], [21053392, 21053590], [21054911, 21055071], [21056969, 21057050], [21057142, 21057232], [21059289, 21059388], [21061135, 21061464]]	[[21033403, 21033466], [21042927, 21043043], [21043930, 21044076], [21044169, 21044277], [21044482, 21044592], [21046096, 21046240], [21047362, 21047490], [21053392, 21053590], [21054911, 21055071], [21056969, 21057050], [21057142, 21057232], [21059289, 21059388], [21061135, 21061243]]
ENST00000584992	[[21044519, 21044592], [21046096, 21046240], [21047362, 21047541]]	None
ENST00000584130	[[21046098, 21046240], [21047362, 21047490], [21053392, 21053447], [21054911, 21055071], [21056969, 21057050], [21057142, 21057167]]	[[21046098, 21046240], [21047362, 21047490], [21053392, 21053447], [21054911, 21054992]]
ENST00000581339	[[21046132, 21046240], [21053392, 21053447], [21054911, 21055071], [21056969, 21057232], [21059280, 21059388], [21061135, 21061329]]	None
ENST00000577250	[[21057151, 21057232], [21059280, 21059388], [21066071, 21066567]]	[[21057151, 21057232], [21059280, 21059388], [21066071, 21066152]]
ENST00000581220	[[21058970, 21059388], [21061135, 21063101]]	None
NM_003831	[[21032786, 21033466], [21042927, 21043043], [21043930, 21044076], [21044169, 21044277], [21044482, 21044592], [21046096, 21046240], [21047362, 21047490], [21053392, 21053590], [21054911, 21055071], [21056969, 21057050], [21057142, 21057232], [21059280, 21059388], [21061135, 21063101]]	[[21033403, 21033466], [21042927, 21043043], [21043930, 21044076], [21044169, 21044277], [21044482, 21044592], [21046096, 21046240], [21047362, 21047490], [21053392, 21053590], [21054911, 21055071], [21056969, 21057050], [21057142, 21057232], [21059280, 21059388], [21061135, 21061243]]

Promoter

Chrom	Start	End	Description
chr18	21032765	21032771	CAGE_peak_10_at_RIOK3_5end
chr18	21032781	21032795	CAGE_peak_5_at_RIOK3_5end
chr18	21032817	21032826	CAGE_peak_9_at_RIOK3_5end
chr18	21033198	21033209	CAGE_peak_3_at_RIOK3_5end
chr18	21033239	21033302	CAGE_peak_1_at_RIOK3_5end
chr18	21033303	21033317	CAGE_peak_2_at_RIOK3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr18	GH18I023384	23384817	23386760	0.84	[{'connected_gene': 'CABLES1', 'score': 11.34}, {'connected_gene': 'TMEM241', 'score': 11.0}, {'connected_gene': 'RMC1', 'score': 7.39}, {'connected_gene': 'NPC1', 'score': 5.6}, {'connected_gene': 'RIOK3', 'score': 4.43}, {'connected_gene': 'ENSG00000266495', 'score': 0.13}]
chr18	GH18I023377	23377171	23381801	1.07	[{'connected_gene': 'CABLES1', 'score': 11.2}, {'connected_gene': 'NPC1', 'score': 9.21}, {'connected_gene': 'TMEM241', 'score': 5.87}, {'connected_gene': 'RIOK3', 'score': 5.04}, {'connected_gene': 'ENSG00000266495', 'score': 0.13}]
chr18	GH18I023450	23450906	23455477	2.28	[{'connected_gene': 'RIOK3', 'score': 550.77}, {'connected_gene': 'RMC1', 'score': 12.56}, {'connected_gene': 'TMEM241', 'score': 6.54}, {'connected_gene': 'GC18P023457', 'score': 0.77}]
chr18	GH18I023279	23279220	23285866	1.03	[{'connected_gene': 'RIOK3', 'score': 10.76}, {'connected_gene': 'NPC1', 'score': 5.68}, {'connected_gene': 'ENSG00000266495', 'score': 0.34}, {'connected_gene': 'TMEM241', 'score': 0.1}]
chr18	GH18I023458	23458801	23459200	0.4	[{'connected_gene': 'TMEM241', 'score': 11.5}, {'connected_gene': 'ENSG00000199357', 'score': 0.77}, {'connected_gene': 'RIOK3', 'score': 0.44}, {'connected_gene': 'GC18P023472', 'score': 0.39}]
chr18	GH18I023478	23478875	23481558	0.82	[{'connected_gene': 'RMC1', 'score': 13.3}, {'connected_gene': 'RIOK3', 'score': 12.39}, {'connected_gene': 'TMEM241', 'score': 11.49}, {'connected_gene': 'PIR55902', 'score': 0.77}, {'connected_gene': 'GC18P023472', 'score': 0.44}]
chr18	GH18I023459	23459882	23462110	0.95	[{'connected_gene': 'RMC1', 'score': 19.79}, {'connected_gene': 'TMEM241', 'score': 11.83}, {'connected_gene': 'CABLES1', 'score': 10.11}, {'connected_gene': 'ENSG00000199357', 'score': 0.77}, {'connected_gene': 'RIOK3', 'score': 0.44}, {'connected_gene': 'GC18P023472', 'score': 0.39}]
chr18	GH18I024201	24201640	24203046	0.38	[{'connected_gene': 'CABYR', 'score': 10.4}, {'connected_gene': 'RIOK3', 'score': 5.2}, {'connected_gene': 'GC18P024207', 'score': 0.77}, {'connected_gene': 'ENSG00000273524', 'score': 0.34}, {'connected_gene': 'OSBPL1A', 'score': 0.08}]
chr18	GH18I023420	23420874	23424141	1.45	[{'connected_gene': 'NPC1', 'score': 14.29}, {'connected_gene': 'RMC1', 'score': 13.39}, {'connected_gene': 'RIOK3', 'score': 12.03}, {'connected_gene': 'CABLES1', 'score': 10.72}, {'connected_gene': 'RBBP8', 'score': 4.49}, {'connected_gene': 'TMEM241', 'score': 0.37}, {'connected_gene': 'ENSG00000266495', 'score': 0.1}]
chr18	GH18I024198	24198003	24198927	0.59	[{'connected_gene': 'ANKRD29', 'score': 9.78}, {'connected_gene': 'RIOK3', 'score': 4.55}, {'connected_gene': 'GC18P024207', 'score': 0.44}, {'connected_gene': 'ENSG00000273524', 'score': 0.37}, {'connected_gene': 'OSBPL1A', 'score': 0.08}]
chr18	GH18I023484	23484112	23484438	0.63	[{'connected_gene': 'ENSG00000283084', 'score': 550.77}, {'connected_gene': 'PIR55902', 'score': 550.77}, {'connected_gene': 'RIOK3', 'score': 11.63}, {'connected_gene': 'TMEM241', 'score': 11.47}, {'connected_gene': 'NPC1', 'score': 4.79}]
chr18	GH18I024206	24206008	24210504	0.52	[{'connected_gene': 'GC18P024207', 'score': 550.77}, {'connected_gene': 'RIOK3', 'score': 4.27}, {'connected_gene': 'RNU6-435P', 'score': 0.39}, {'connected_gene': 'OSBPL1A', 'score': 0.09}]
chr18	GH18I023470	23470823	23472071	0.54	[{'connected_gene': 'GC18P023472', 'score': 550.77}, {'connected_gene': 'TMEM241', 'score': 10.83}, {'connected_gene': 'CABLES1', 'score': 10.08}, {'connected_gene': 'RIOK3', 'score': 0.37}, {'connected_gene': 'ENSG00000199357', 'score': 0.37}]
chr18	GH18I023482	23482360	23483947	0.43	[{'connected_gene': 'ENSG00000283084', 'score': 550.77}, {'connected_gene': 'PIR55902', 'score': 550.77}, {'connected_gene': 'TMEM241', 'score': 17.32}, {'connected_gene': 'RIOK3', 'score': 11.63}]
chr18	GH18I023457	23457801	23458400	0.51	[{'connected_gene': 'GC18P023457', 'score': 550.77}, {'connected_gene': 'ENSG00000199357', 'score': 550.77}, {'connected_gene': 'RMC1', 'score': 19.29}, {'connected_gene': 'RIOK3', 'score': 0.44}, {'connected_gene': 'GC18P023472', 'score': 0.39}]
chr18	GH18I023487	23486151	23486186	0.4	[{'connected_gene': 'ENSG00000283084', 'score': 550.77}, {'connected_gene': 'RMC1', 'score': 0.37}, {'connected_gene': 'RIOK3', 'score': 0.29}]