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
ENST00000523065	[[20693726, 20693785], [20696514, 20696725], [20702318, 20702557], [20708957, 20709110], [20710173, 20710212]]	[[20693726, 20693785], [20696514, 20696725], [20702318, 20702510]]
ENST00000519031	[[20634558, 20634894], [20635417, 20635504], [20636744, 20636844], [20638577, 20638638], [20648060, 20648773], [20651782, 20651906], [20673115, 20673195], [20681148, 20681308], [20682852, 20682993], [20687446, 20687483]]	None
ENST00000307493	[[20634558, 20634894], [20635417, 20635537], [20636744, 20636844], [20638510, 20638638], [20648060, 20648162], [20648692, 20648773], [20651782, 20651906], [20673115, 20673195], [20681148, 20681308], [20682852, 20682993], [20693577, 20693785], [20696514, 20696725], [20702318, 20702578]]	[[20634807, 20634894], [20635417, 20635537], [20636744, 20636844], [20638510, 20638638], [20648060, 20648162], [20648692, 20648773], [20651782, 20651906], [20673115, 20673195], [20681148, 20681308], [20682852, 20682993], [20693577, 20693785], [20696514, 20696725], [20702318, 20702510]]
ENST00000219151	[[20634558, 20634894], [20635417, 20635537], [20636744, 20636844], [20638510, 20638638], [20648060, 20648176], [20648475, 20648557], [20648692, 20648773], [20651782, 20651906], [20673115, 20673195], [20681148, 20681308], [20682852, 20682993], [20693577, 20693785], [20696514, 20696725], [20702318, 20702578]]	[[20634807, 20634894], [20635417, 20635537], [20636744, 20636844], [20638510, 20638638], [20648060, 20648176], [20648475, 20648557], [20648692, 20648746]]
ENST00000519745	[[20634709, 20634894], [20635417, 20635537], [20638577, 20638638], [20648692, 20648773], [20673115, 20673195], [20681148, 20681312], [20682852, 20682993], [20685365, 20685422], [20693577, 20693785], [20696514, 20696725], [20702318, 20702578]]	[[20685418, 20685422], [20693577, 20693785], [20696514, 20696725], [20702318, 20702510]]
ENST00000524149	[[20634747, 20634894], [20635417, 20635537], [20636744, 20636844], [20638510, 20638638], [20648692, 20648773], [20651782, 20651906], [20673115, 20673195], [20681148, 20681177]]	[[20634807, 20634894], [20635417, 20635537], [20636744, 20636844], [20638510, 20638638], [20648692, 20648773], [20651782, 20651906], [20673115, 20673195], [20681148, 20681177]]
ENST00000520010	[[20634807, 20634894], [20635417, 20635537], [20636744, 20636844], [20638510, 20638638], [20648060, 20648162], [20648692, 20648773], [20651782, 20651906], [20673115, 20673195], [20681148, 20681308], [20682852, 20682993], [20693577, 20693785], [20696514, 20696725], [20702318, 20702561], [20708957, 20709066]]	[[20634807, 20634894], [20635417, 20635537], [20636744, 20636844], [20638510, 20638638], [20648060, 20648162], [20648692, 20648773], [20651782, 20651906], [20673115, 20673195], [20681148, 20681308], [20682852, 20682993], [20693577, 20693785], [20696514, 20696725], [20702318, 20702510]]
NR_134918	[[20634558, 20634894], [20635417, 20635537], [20638577, 20638638], [20648692, 20648773], [20673115, 20673195], [20681148, 20681312], [20682852, 20682993], [20685365, 20685422], [20693577, 20693785], [20696514, 20696725], [20702318, 20702578]]	None
NM_052956	[[20634558, 20634894], [20635417, 20635537], [20636744, 20636844], [20638510, 20638638], [20648060, 20648162], [20648692, 20648773], [20651782, 20651906], [20673115, 20673195], [20681148, 20681308], [20682852, 20682993], [20693577, 20693785], [20696514, 20696725], [20702318, 20702578]]	[[20634807, 20634894], [20635417, 20635537], [20636744, 20636844], [20638510, 20638638], [20648060, 20648162], [20648692, 20648773], [20651782, 20651906], [20673115, 20673195], [20681148, 20681308], [20682852, 20682993], [20693577, 20693785], [20696514, 20696725], [20702318, 20702510]]
NM_001318890	[[20634558, 20634894], [20635417, 20635537], [20636744, 20636844], [20638510, 20638638], [20648060, 20648162], [20648692, 20648773], [20651782, 20651906], [20673115, 20673195], [20681148, 20681308], [20682852, 20682993], [20693577, 20693785], [20696514, 20696725], [20702318, 20702561], [20708957, 20709110]]	[[20634807, 20634894], [20635417, 20635537], [20636744, 20636844], [20638510, 20638638], [20648060, 20648162], [20648692, 20648773], [20651782, 20651906], [20673115, 20673195], [20681148, 20681308], [20682852, 20682993], [20693577, 20693785], [20696514, 20696725], [20702318, 20702510]]

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I020804	20804943	20808534	2.1	[{'connected_gene': 'REXO5', 'score': 550.77}, {'connected_gene': 'ERI2', 'score': 550.16}, {'connected_gene': 'ACSM1', 'score': 12.68}, {'connected_gene': 'ACSM3', 'score': 12.45}, {'connected_gene': 'THUMPD1', 'score': 11.72}, {'connected_gene': 'SMG1P3', 'score': 11.1}, {'connected_gene': 'NPIPB3', 'score': 9.98}, {'connected_gene': 'ENSG00000275908', 'score': 0.37}]
chr16	GH16I020876	20876784	20883078	1.29	[{'connected_gene': 'ACSM3', 'score': 21.31}, {'connected_gene': 'THUMPD1', 'score': 12.95}, {'connected_gene': 'DCUN1D3', 'score': 12.64}, {'connected_gene': 'ACSM1', 'score': 12.52}, {'connected_gene': 'NPIPB3', 'score': 11.42}, {'connected_gene': 'TMEM159', 'score': 10.38}, {'connected_gene': 'DNAH3', 'score': 10.38}, {'connected_gene': 'LYRM1', 'score': 0.37}, {'connected_gene': 'ERI2', 'score': 0.34}, {'connected_gene': 'PIR58963', 'score': 0.29}, {'connected_gene': 'GC16P020829', 'score': 0.23}]
chr16	GH16I020611	20611271	20612883	0.74	[{'connected_gene': 'ACSM3', 'score': 550.77}, {'connected_gene': 'ACSM1', 'score': 28.45}, {'connected_gene': 'ENSG00000275315', 'score': 0.77}]
chr16	GH16I020739	20739645	20742468	2.28	[{'connected_gene': 'THUMPD1', 'score': 550.77}, {'connected_gene': 'ACSM3', 'score': 15.06}, {'connected_gene': 'ACSM1', 'score': 10.83}, {'connected_gene': 'PIR32517', 'score': 0.31}]
chr16	GH16I020681	20681779	20683020	0.87	[{'connected_gene': 'THUMPD1', 'score': 17.15}, {'connected_gene': 'LOC105379461', 'score': 0.44}, {'connected_gene': 'ACSM1', 'score': 0.37}, {'connected_gene': 'ACSM3', 'score': 0.19}]
chr16	GH16I020707	20707599	20707748	0.2	[{'connected_gene': 'THUMPD1', 'score': 17.24}, {'connected_gene': 'LOC100887080', 'score': 0.77}, {'connected_gene': 'ACSM1', 'score': 0.44}, {'connected_gene': 'LOC105379461', 'score': 0.29}, {'connected_gene': 'ACSM3', 'score': 0.15}]
chr16	GH16I021075	21075800	21077116	0.54	[{'connected_gene': 'DNAH3', 'score': 17.29}, {'connected_gene': 'DCUN1D3', 'score': 17.29}, {'connected_gene': 'LYRM1', 'score': 10.91}, {'connected_gene': 'TMEM159', 'score': 10.84}, {'connected_gene': 'ACSM3', 'score': 7.18}, {'connected_gene': 'ACSM1', 'score': 5.51}, {'connected_gene': 'GC16P021084', 'score': 0.44}, {'connected_gene': 'GC16M021061', 'score': 0.39}]
chr16	GH16I020909	20909738	20915105	1.48	[{'connected_gene': 'DCUN1D3', 'score': 22.84}, {'connected_gene': 'ACSM3', 'score': 13.64}, {'connected_gene': 'TMEM159', 'score': 9.67}, {'connected_gene': 'DNAH3', 'score': 9.67}, {'connected_gene': 'CRYM', 'score': 9.29}, {'connected_gene': 'ACSM1', 'score': 9.13}, {'connected_gene': 'THUMPD1', 'score': 7.74}, {'connected_gene': 'LYRM1', 'score': 6.73}, {'connected_gene': 'PIR35456', 'score': 0.23}, {'connected_gene': 'GC16P020829', 'score': 0.18}]
chr16	GH16I020896	20896928	20908383	2.59	[{'connected_gene': 'DCUN1D3', 'score': 573.77}, {'connected_gene': 'LYRM1', 'score': 557.6}, {'connected_gene': 'THUMPD1', 'score': 24.89}, {'connected_gene': 'ACSM3', 'score': 19.31}, {'connected_gene': 'SMG1P3', 'score': 12.97}, {'connected_gene': 'ACSM1', 'score': 11.83}, {'connected_gene': 'CRYM', 'score': 7.49}, {'connected_gene': 'ERI2', 'score': 0.77}, {'connected_gene': 'PIR35456', 'score': 0.21}, {'connected_gene': 'GC16P020829', 'score': 0.19}]
chr16	GH16I020596	20596879	20599764	0.93	[{'connected_gene': 'ACSM1', 'score': 15.94}, {'connected_gene': 'REXO5', 'score': 4.91}, {'connected_gene': 'ACSM5P1', 'score': 0.44}, {'connected_gene': 'GC16P020588', 'score': 0.39}]
chr16	GH16I020613	20613019	20613108	0.4	[{'connected_gene': 'ACSM1', 'score': 15.19}, {'connected_gene': 'ENSG00000275315', 'score': 0.77}, {'connected_gene': 'ACSM3', 'score': 0.77}]
chr16	GH16I020484	20484630	20485242	0.62	[{'connected_gene': 'ACSM1', 'score': 7.36}, {'connected_gene': 'ENSG00000280306', 'score': 0.77}, {'connected_gene': 'ACSM2A', 'score': 0.29}]
chr16	GH16I020691	20691799	20691948	0.83	[{'connected_gene': 'ACSM1', 'score': 0.44}, {'connected_gene': 'LOC105379461', 'score': 0.37}, {'connected_gene': 'ACSM3', 'score': 0.18}]
chr16	GH16I020673	20673140	20678257	1.55	[{'connected_gene': 'LOC105379461', 'score': 550.77}, {'connected_gene': 'ACSM1', 'score': 26.15}, {'connected_gene': 'ACSM3', 'score': 9.64}]
chr16	GH16I020587	20587141	20588618	0.63	[{'connected_gene': 'GC16P020588', 'score': 550.77}, {'connected_gene': 'ACSM1', 'score': 13.84}, {'connected_gene': 'ACSM5', 'score': 4.77}, {'connected_gene': 'REXO5', 'score': 4.77}, {'connected_gene': 'LOC105371120', 'score': 0.44}, {'connected_gene': 'ACSM5P1', 'score': 0.37}]
chr16	GH16I020648	20648399	20648548	0.31	[{'connected_gene': 'GC16M020646', 'score': 550.77}, {'connected_gene': 'LOC105379461', 'score': 0.31}, {'connected_gene': 'ACSM3', 'score': 0.28}, {'connected_gene': 'ACSM1', 'score': 0.23}]