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
ENST00000458517	[[171750787, 171750935], [171751127, 171751260], [171752879, 171753639], [171755018, 171755218], [171756874, 171757070], [171759591, 171759756], [171761156, 171761375], [171763535, 171763667], [171765621, 171766101]]	[[171750918, 171750935], [171751127, 171751260], [171752879, 171753639], [171755018, 171755218], [171756874, 171757070], [171759591, 171759756], [171761156, 171761375], [171763535, 171763667], [171765621, 171765896]]
ENST00000485629	[[171750803, 171750935], [171751127, 171751260], [171752879, 171753179], [171755026, 171755220]]	None
ENST00000362019	[[171750821, 171750935], [171752879, 171753639], [171755018, 171755218], [171756874, 171757070], [171759591, 171759756], [171761156, 171761375], [171763535, 171763667], [171765621, 171766857]]	[[171752984, 171753639], [171755018, 171755218], [171756874, 171757070], [171759591, 171759756], [171761156, 171761375], [171763535, 171763667], [171765621, 171765896]]
ENST00000367737	[[171750835, 171751260], [171752879, 171753179], [171755026, 171755218], [171756874, 171757070], [171759591, 171759756], [171761156, 171761375], [171763535, 171763667], [171765621, 171766857]]	[[171751107, 171751260], [171752879, 171753179], [171755026, 171755218], [171756874, 171757070], [171759591, 171759756], [171761156, 171761375], [171763535, 171763667], [171765621, 171765896]]
ENST00000361735	[[171750841, 171751260], [171752879, 171753639], [171755018, 171755218], [171756874, 171757070], [171759591, 171759756], [171761156, 171761375], [171763535, 171763667], [171765621, 171766857]]	[[171751107, 171751260], [171752879, 171753639], [171755018, 171755218], [171756874, 171757070], [171759591, 171759756], [171761156, 171761375], [171763535, 171763667], [171765621, 171765896]]
ENST00000478330	[[171756964, 171757070], [171759591, 171760065]]	None
ENST00000466643	[[171757002, 171757070], [171761156, 171761375], [171763535, 171763667], [171765621, 171766043]]	None
ENST00000476386	[[171763533, 171763667], [171783014, 171783163]]	None
NM_014955	[[171750760, 171750935], [171752879, 171753639], [171755018, 171755218], [171756874, 171757070], [171759591, 171759756], [171761156, 171761375], [171763535, 171763667], [171765621, 171766856]]	[[171752984, 171753639], [171755018, 171755218], [171756874, 171757070], [171759591, 171759756], [171761156, 171761375], [171763535, 171763667], [171765621, 171765896]]
NM_001007239	[[171750760, 171751260], [171752879, 171753179], [171755026, 171755218], [171756874, 171757070], [171759591, 171759756], [171761156, 171761375], [171763535, 171763667], [171765621, 171766856]]	[[171751107, 171751260], [171752879, 171753179], [171755026, 171755218], [171756874, 171757070], [171759591, 171759756], [171761156, 171761375], [171763535, 171763667], [171765621, 171765896]]
NM_015935	[[171750760, 171751260], [171752879, 171753639], [171755018, 171755218], [171756874, 171757070], [171759591, 171759756], [171761156, 171761375], [171763535, 171763667], [171765621, 171766856]]	[[171751107, 171751260], [171752879, 171753639], [171755018, 171755218], [171756874, 171757070], [171759591, 171759756], [171761156, 171761375], [171763535, 171763667], [171765621, 171765896]]

Promoter

Chrom	Start	End	Description
chr1	171750776	171750870	CAGE_peak_1_at_METTL13_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I172448	172448057	172454485	1.94	[{'connected_gene': 'C1orf105', 'score': 581.16}, {'connected_gene': 'PIGC', 'score': 23.74}, {'connected_gene': 'SUCO', 'score': 21.13}, {'connected_gene': 'METTL13', 'score': 10.79}, {'connected_gene': 'LOC102724528', 'score': 0.44}]
chr1	GH01I172475	172475271	172480793	0.9	[{'connected_gene': 'C1orf105', 'score': 27.03}, {'connected_gene': 'PIGC', 'score': 25.35}, {'connected_gene': 'SUCO', 'score': 22.37}, {'connected_gene': 'METTL13', 'score': 10.79}, {'connected_gene': 'LOC102724528', 'score': 0.34}]
chr1	GH01I171738	171738353	171744505	2.65	[{'connected_gene': 'VAMP4', 'score': 559.28}, {'connected_gene': 'PRRC2C', 'score': 46.48}, {'connected_gene': 'METTL13', 'score': 45.97}, {'connected_gene': 'PIGC', 'score': 25.34}, {'connected_gene': 'FMO4', 'score': 11.19}, {'connected_gene': 'SUCO', 'score': 9.98}, {'connected_gene': 'MYOC', 'score': 9.56}, {'connected_gene': 'PIR43253', 'score': 0.22}]
chr1	GH01I172717	172717330	172720130	1.16	[{'connected_gene': 'PIGC', 'score': 25.35}, {'connected_gene': 'ENSG00000224228', 'score': 19.16}, {'connected_gene': 'METTL13', 'score': 16.74}, {'connected_gene': 'RNU6-693P', 'score': 12.17}, {'connected_gene': 'FASLG', 'score': 10.95}, {'connected_gene': 'SUCO', 'score': 9.85}, {'connected_gene': 'C1orf105', 'score': 9.82}, {'connected_gene': 'SLC25A38P1', 'score': 0.31}]
chr1	GH01I172443	172443010	172444750	2.06	[{'connected_gene': 'PIGC', 'score': 580.84}, {'connected_gene': 'PRRC2C', 'score': 12.75}, {'connected_gene': 'METTL13', 'score': 10.19}, {'connected_gene': 'LOC102724528', 'score': 0.39}, {'connected_gene': 'C1orf105', 'score': 0.34}]
chr1	GH01I171787	171787800	171789510	0.2	[{'connected_gene': 'METTL13', 'score': 12.6}, {'connected_gene': 'DNM3', 'score': 10.19}, {'connected_gene': 'PIR37492', 'score': 0.77}, {'connected_gene': 'RPS15P3', 'score': 0.39}]
chr1	GH01I171793	171793306	171795159	0.64	[{'connected_gene': 'METTL13', 'score': 12.34}, {'connected_gene': 'DNM3', 'score': 4.56}, {'connected_gene': 'RPS15P3', 'score': 0.44}, {'connected_gene': 'PIR37492', 'score': 0.39}]
chr1	GH01I171779	171779939	171782860	2.08	[{'connected_gene': 'METTL13', 'score': 606.02}, {'connected_gene': 'PRRC2C', 'score': 49.01}, {'connected_gene': 'PIGC', 'score': 28.13}, {'connected_gene': 'MYOC', 'score': 10.7}, {'connected_gene': 'DNM3', 'score': 5.38}, {'connected_gene': 'LOC105371614', 'score': 0.44}]
chr1	GH01I171817	171817206	171818456	1.02	[{'connected_gene': 'METTL13', 'score': 12.32}, {'connected_gene': 'RPLP1P3', 'score': 0.44}, {'connected_gene': 'ENSG00000213060', 'score': 0.39}]
chr1	GH01I172531	172531173	172535494	2.3	[{'connected_gene': 'SUCO', 'score': 563.61}, {'connected_gene': 'GC01M172532', 'score': 550.77}, {'connected_gene': 'PIGC', 'score': 36.05}, {'connected_gene': 'METTL13', 'score': 11.45}]
chr1	GH01I171744	171744801	171745446	0.79	[{'connected_gene': 'MYOC', 'score': 14.7}, {'connected_gene': 'METTL13', 'score': 11.63}, {'connected_gene': 'VAMP4', 'score': 10.18}, {'connected_gene': 'FMO4', 'score': 9.13}, {'connected_gene': 'PRRC2C', 'score': 5.08}, {'connected_gene': 'LOC100422548', 'score': 0.44}]
chr1	GH01I171717	171717185	171717778	0.2	[{'connected_gene': 'MYOC', 'score': 17.06}, {'connected_gene': 'PRRC2C', 'score': 10.1}, {'connected_gene': 'METTL13', 'score': 5.9}, {'connected_gene': 'VAMP4', 'score': 0.34}, {'connected_gene': 'PIR43253', 'score': 0.29}]
chr1	GH01I171799	171799423	171802628	0.67	[{'connected_gene': 'RPS15P3', 'score': 550.77}, {'connected_gene': 'METTL13', 'score': 12.58}, {'connected_gene': 'MYOC', 'score': 9.92}, {'connected_gene': 'C1orf105', 'score': 9.56}, {'connected_gene': 'DNM3', 'score': 6.98}, {'connected_gene': 'PIR37492', 'score': 0.37}]
chr1	GH01I172662	172662249	172664490	1.53	[{'connected_gene': 'FASLG', 'score': 23.3}, {'connected_gene': 'SUCO', 'score': 13.67}, {'connected_gene': 'METTL13', 'score': 10.79}, {'connected_gene': 'SLC25A38P1', 'score': 0.18}]
chr1	GH01I171805	171805601	171806200	0.43	[{'connected_gene': 'DNM3', 'score': 5.58}, {'connected_gene': 'ENSG00000213060', 'score': 0.77}, {'connected_gene': 'RPS15P3', 'score': 0.77}, {'connected_gene': 'RPLP1P3', 'score': 0.37}, {'connected_gene': 'METTL13', 'score': 0.34}]
chr1	GH01I171753	171753693	171755651	1.09	[{'connected_gene': 'LOC100422549', 'score': 550.77}, {'connected_gene': 'METTL13', 'score': 17.14}, {'connected_gene': 'MYOC', 'score': 15.19}, {'connected_gene': 'VAMP4', 'score': 8.38}, {'connected_gene': 'LOC100422548', 'score': 0.77}]
chr1	GH01I171803	171803161	171803330	0.2	[{'connected_gene': 'ENSG00000213060', 'score': 550.77}, {'connected_gene': 'RPS15P3', 'score': 550.77}, {'connected_gene': 'METTL13', 'score': 10.98}, {'connected_gene': 'MYOC', 'score': 9.91}, {'connected_gene': 'C1orf105', 'score': 9.3}, {'connected_gene': 'DNM3', 'score': 5.26}]
chr1	GH01I171785	171785001	171785200	0.2	[{'connected_gene': 'PIR37492', 'score': 550.77}, {'connected_gene': 'DNM3', 'score': 5.39}, {'connected_gene': 'METTL13', 'score': 0.77}, {'connected_gene': 'RPS15P3', 'score': 0.37}]
chr1	GH01I171511	171511573	171518278	0.59	[{'connected_gene': 'GC01P171514', 'score': 550.77}, {'connected_gene': 'PRRC2C', 'score': 35.13}, {'connected_gene': 'GORAB', 'score': 16.0}, {'connected_gene': 'DNM3OS', 'score': 10.74}, {'connected_gene': 'METTL13', 'score': 5.26}, {'connected_gene': 'MYOC', 'score': 5.05}, {'connected_gene': 'GC01P171492', 'score': 0.34}]