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
ENST00000328195	[[37620110, 37620276], [37623043, 37623151], [37623228, 37623264], [37623797, 37623873], [37630272, 37630407], [37632856, 37632999], [37633435, 37633534], [37635490, 37637283]]	[[37620177, 37620276], [37623043, 37623151], [37623228, 37623264], [37623797, 37623873], [37630272, 37630407], [37632856, 37632999], [37633435, 37633534], [37635490, 37635622]]
ENST00000520073	[[37620112, 37620276], [37623043, 37623151], [37623228, 37623264], [37623797, 37624259]]	None
ENST00000523358	[[37620117, 37620276], [37623043, 37623151], [37623228, 37623264], [37623797, 37623873], [37630272, 37630409]]	[[37620177, 37620276], [37623043, 37623151], [37623228, 37623264], [37623797, 37623873], [37630272, 37630409]]
ENST00000523187	[[37620117, 37620218], [37623043, 37623151], [37623228, 37623264], [37623797, 37623873], [37630272, 37630407], [37632856, 37632969]]	[[37623100, 37623151], [37623228, 37623264], [37623797, 37623873], [37630272, 37630407], [37632856, 37632969]]
ENST00000518036	[[37620127, 37620276], [37623043, 37623264], [37623797, 37623873], [37630272, 37630384]]	[[37620177, 37620276], [37623043, 37623169]]
ENST00000523994	[[37620172, 37620276], [37623043, 37623151], [37623228, 37623264], [37623797, 37623873], [37623999, 37624234]]	None
ENST00000523521	[[37623797, 37623873], [37630272, 37630407], [37632826, 37632999]]	[[37623797, 37623873], [37630272, 37630407], [37632826, 37632999]]
ENST00000521631	[[37630270, 37630407], [37632856, 37632991]]	None
ENST00000522808	[[37632453, 37632999], [37633435, 37633534], [37635490, 37635598]]	None

Promoter

Chrom	Start	End	Description
chr8	37620097	37620146	CAGE_peak_1_at_PROSC_5end
chr8	37620149	37620171	CAGE_peak_2_at_PROSC_5end
chr8	37620174	37620195	CAGE_peak_3_at_PROSC_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I037869	37869690	37875810	1.25	[{'connected_gene': 'RAB11FIP1', 'score': 13.26}, {'connected_gene': 'ADGRA2', 'score': 11.21}, {'connected_gene': 'GOT1L1', 'score': 11.1}, {'connected_gene': 'EIF4EBP1', 'score': 11.1}, {'connected_gene': 'PLPBP', 'score': 11.02}, {'connected_gene': 'ENSG00000280064', 'score': 0.39}]
chr8	GH08I037720	37720597	37721292	0.43	[{'connected_gene': 'ZNF703', 'score': 11.94}, {'connected_gene': 'ENSG00000253344', 'score': 10.35}, {'connected_gene': 'PLPBP', 'score': 10.35}, {'connected_gene': 'LOC105379379', 'score': 10.23}, {'connected_gene': 'ENSG00000253414', 'score': 9.75}, {'connected_gene': 'LOC101929622', 'score': 0.77}, {'connected_gene': 'ERLIN2', 'score': 0.37}, {'connected_gene': 'GC08M037706', 'score': 0.18}]
chr8	GH08I037753	37753430	37754334	0.43	[{'connected_gene': 'ADGRA2', 'score': 10.83}, {'connected_gene': 'RAB11FIP1', 'score': 10.14}, {'connected_gene': 'PLPBP', 'score': 0.44}, {'connected_gene': 'LOC728024', 'score': 0.44}, {'connected_gene': 'ERLIN2', 'score': 0.37}, {'connected_gene': 'GC08M037706', 'score': 0.26}]
chr8	GH08I037779	37779483	37788941	1.49	[{'connected_gene': 'ADGRA2', 'score': 570.92}, {'connected_gene': 'DDHD2', 'score': 52.85}, {'connected_gene': 'ERLIN2', 'score': 32.06}, {'connected_gene': 'ENSG00000255201', 'score': 29.93}, {'connected_gene': 'RPS20P22', 'score': 24.3}, {'connected_gene': 'LOC100507403', 'score': 12.4}, {'connected_gene': 'ENSG00000272128', 'score': 12.3}, {'connected_gene': 'EIF4EBP1', 'score': 12.3}, {'connected_gene': 'LOC102723716', 'score': 11.59}, {'connected_gene': 'NSD3', 'score': 11.43}, {'connected_gene': 'FGFR1', 'score': 10.54}, {'connected_gene': 'ASH2L', 'score': 10.51}, {'connected_gene': 'ENSG00000260949', 'score': 10.08}, {'connected_gene': 'ENSG00000254290', 'score': 9.78}, {'connected_gene': 'LOC105379381', 'score': 0.39}, {'connected_gene': 'GC08M037706', 'score': 0.39}, {'connected_gene': 'PLPBP', 'score': 0.34}]
chr8	GH08I037796	37796152	37805405	2.57	[{'connected_gene': 'ADGRA2', 'score': 557.12}, {'connected_gene': 'GOT1L1', 'score': 11.85}, {'connected_gene': 'RAB11FIP1', 'score': 10.86}, {'connected_gene': 'PLPBP', 'score': 8.01}, {'connected_gene': 'GC08M037706', 'score': 0.77}, {'connected_gene': 'GC08P037815', 'score': 0.39}]
chr8	GH08I037915	37915203	37916992	1.54	[{'connected_gene': 'GOT1L1', 'score': 11.33}, {'connected_gene': 'PLPBP', 'score': 10.32}, {'connected_gene': 'RNU6-323P', 'score': 9.83}, {'connected_gene': 'RN7SL709P', 'score': 0.44}, {'connected_gene': 'PIR49654', 'score': 0.39}]
chr8	GH08I037754	37754543	37754652	0.43	[{'connected_gene': 'PLPBP', 'score': 0.44}, {'connected_gene': 'LOC728024', 'score': 0.44}, {'connected_gene': 'ERLIN2', 'score': 0.37}, {'connected_gene': 'GC08M037706', 'score': 0.26}]
chr8	GH08I037761	37761800	37763974	2.06	[{'connected_gene': 'PLPBP', 'score': 555.38}, {'connected_gene': 'DDHD2', 'score': 24.08}, {'connected_gene': 'ERLIN2', 'score': 22.31}, {'connected_gene': 'ADGRA2', 'score': 21.99}, {'connected_gene': 'ASH2L', 'score': 20.38}, {'connected_gene': 'ENSG00000255201', 'score': 17.89}, {'connected_gene': 'BRF2', 'score': 15.26}, {'connected_gene': 'LOC728024', 'score': 11.84}, {'connected_gene': 'LOC102723701', 'score': 11.29}, {'connected_gene': 'RAB11FIP1', 'score': 10.0}, {'connected_gene': 'GC08M037706', 'score': 0.29}]
chr8	GH08I037747	37747339	37750128	1.24	[{'connected_gene': 'PIR57264', 'score': 550.77}, {'connected_gene': 'LOC728024', 'score': 550.77}, {'connected_gene': 'ADGRA2', 'score': 10.83}, {'connected_gene': 'RAB11FIP1', 'score': 10.32}, {'connected_gene': 'ZNF703', 'score': 10.18}, {'connected_gene': 'ERLIN2', 'score': 0.39}, {'connected_gene': 'PLPBP', 'score': 0.39}, {'connected_gene': 'GC08M037706', 'score': 0.25}]
chr8	GH08I037402	37402762	37404411	0.38	[{'connected_gene': 'ENSG00000253388', 'score': 10.81}, {'connected_gene': 'DDHD2', 'score': 5.73}, {'connected_gene': 'PLPBP', 'score': 4.26}, {'connected_gene': 'ENSG00000253746', 'score': 0.77}, {'connected_gene': 'LOC100507403', 'score': 0.19}]