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
ENST00000399300	[[94741583, 94748666], [94749534, 94749583], [94753108, 94753245]]	[[94745632, 94748638]]
ENST00000517700	[[94742491, 94746416], [94746776, 94748666], [94749534, 94749583], [94753108, 94753245]]	[[94745632, 94746416], [94746776, 94748638]]
ENST00000520961	[[94742860, 94743126], [94751178, 94751419]]	None
ENST00000519109	[[94748190, 94748666], [94749534, 94749583], [94752856, 94752946]]	[[94748190, 94748638]]
ENST00000518597	[[94748208, 94748666], [94753108, 94753229]]	[[94748208, 94748638]]
ENST00000520560	[[94748271, 94748666], [94749534, 94749583], [94752856, 94752924], [94753108, 94753184]]	[[94748271, 94748638]]
ENST00000521947	[[94748390, 94748666], [94749534, 94749583], [94753090, 94753217]]	[[94748390, 94748638]]
NM_203390	[[94743727, 94748666], [94749534, 94749583], [94753108, 94753224]]	[[94745632, 94748638]]

Promoter

Chrom	Start	End	Description
chr8	94752985	94753008	CAGE_peak_3_at_RBM12B_5end
chr8	94753009	94753031	CAGE_peak_6_at_RBM12B_5end
chr8	94753185	94753199	CAGE_peak_5_at_RBM12B_5end
chr8	94753202	94753227	CAGE_peak_1_at_RBM12B_5end
chr8	94753229	94753263	CAGE_peak_2_at_RBM12B_5end
chr8	94753282	94753301	CAGE_peak_4_at_RBM12B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I093397	93397123	93399400	1.2	[{'connected_gene': 'RBM12B', 'score': 10.82}, {'connected_gene': 'LINC00535', 'score': 5.04}, {'connected_gene': 'PDP1', 'score': 4.46}, {'connected_gene': 'GC08P093393', 'score': 0.44}, {'connected_gene': 'RNA5SP274', 'score': 0.26}]
chr8	GH08I094718	94718637	94721525	2.14	[{'connected_gene': 'DPY19L4', 'score': 556.16}, {'connected_gene': 'VIRMA', 'score': 75.65}, {'connected_gene': 'RBM12B', 'score': 50.15}, {'connected_gene': 'INTS8', 'score': 49.38}, {'connected_gene': 'C8orf37', 'score': 39.47}, {'connected_gene': 'NDUFAF6', 'score': 13.25}, {'connected_gene': 'RPL34P18', 'score': 11.26}, {'connected_gene': 'TMEM67', 'score': 10.99}, {'connected_gene': 'ENSG00000272509', 'score': 10.57}, {'connected_gene': 'ESRP1', 'score': 10.12}, {'connected_gene': 'ENSG00000253704', 'score': 9.77}, {'connected_gene': 'ENSG00000254307', 'score': 0.19}]
chr8	GH08I092963	92963930	92966742	2.02	[{'connected_gene': 'TRIQK', 'score': 557.57}, {'connected_gene': 'RBM12B', 'score': 28.09}, {'connected_gene': 'IRF5P1', 'score': 0.44}, {'connected_gene': 'ENSG00000253197', 'score': 0.18}]
chr8	GH08I093871	93871911	93876513	1.33	[{'connected_gene': 'VIRMA', 'score': 31.08}, {'connected_gene': 'INTS8', 'score': 24.49}, {'connected_gene': 'RBM12B', 'score': 23.57}, {'connected_gene': 'GC08M093861', 'score': 0.39}, {'connected_gene': 'PDP1', 'score': 0.37}, {'connected_gene': 'LOC105375646', 'score': 0.29}]
chr8	GH08I094405	94405311	94406621	0.85	[{'connected_gene': 'VIRMA', 'score': 21.73}, {'connected_gene': 'INTS8', 'score': 15.16}, {'connected_gene': 'RBM12B', 'score': 10.79}, {'connected_gene': 'RAD54B', 'score': 10.51}, {'connected_gene': 'GC08P094395', 'score': 0.39}, {'connected_gene': 'ENSG00000280123', 'score': 0.34}, {'connected_gene': 'FSBP', 'score': 0.29}]
chr8	GH08I094114	94114845	94116549	0.98	[{'connected_gene': 'VIRMA', 'score': 16.05}, {'connected_gene': 'RBM12B', 'score': 14.51}, {'connected_gene': 'INTS8', 'score': 11.17}, {'connected_gene': 'ENSG00000253585', 'score': 7.36}, {'connected_gene': 'LOC105375647', 'score': 0.31}]
chr8	GH08I094474	94474071	94475850	2.04	[{'connected_gene': 'RAD54B', 'score': 550.77}, {'connected_gene': 'INTS8', 'score': 21.37}, {'connected_gene': 'VIRMA', 'score': 18.05}, {'connected_gene': 'RBM12B', 'score': 9.77}, {'connected_gene': 'GC08P094456', 'score': 0.37}]
chr8	GH08I093954	93954029	93954989	0.6	[{'connected_gene': 'FAM92A', 'score': 10.55}, {'connected_gene': 'LINC00535', 'score': 10.55}, {'connected_gene': 'RBM12B', 'score': 10.36}, {'connected_gene': 'LOC105375645', 'score': 10.36}, {'connected_gene': 'PDP1', 'score': 9.86}, {'connected_gene': 'ENSG00000253722', 'score': 9.53}, {'connected_gene': 'PIR51498', 'score': 0.77}, {'connected_gene': 'PSMA2P2', 'score': 0.39}]
chr8	GH08I093696	93696419	93697256	0.38	[{'connected_gene': 'FAM92A', 'score': 550.77}, {'connected_gene': 'LOC105375645', 'score': 10.73}, {'connected_gene': 'RBM12B', 'score': 10.73}, {'connected_gene': 'ENSG00000253722', 'score': 10.63}, {'connected_gene': 'LINC00535', 'score': 0.77}, {'connected_gene': 'PIR47593', 'score': 0.25}]
chr8	GH08I093738	93738547	93741896	2.02	[{'connected_gene': 'LOC105375645', 'score': 594.19}, {'connected_gene': 'RBM12B-AS1', 'score': 550.77}, {'connected_gene': 'RBM12B', 'score': 550.77}, {'connected_gene': 'VIRMA', 'score': 12.12}]
chr8	GH08I093694	93694001	93694401	0.84	[{'connected_gene': 'LOC105375645', 'score': 17.02}, {'connected_gene': 'RBM12B', 'score': 10.72}, {'connected_gene': 'ENSG00000253722', 'score': 10.63}, {'connected_gene': 'FAM92A', 'score': 0.77}, {'connected_gene': 'LINC00535', 'score': 0.44}, {'connected_gene': 'PIR47593', 'score': 0.25}]
chr8	GH08I094638	94638217	94643511	2.33	[{'connected_gene': 'LOC100288748', 'score': 562.08}, {'connected_gene': 'ESRP1', 'score': 556.5}, {'connected_gene': 'VIRMA', 'score': 28.4}, {'connected_gene': 'INTS8', 'score': 26.94}, {'connected_gene': 'RBM12B', 'score': 20.07}, {'connected_gene': 'ENSG00000253878', 'score': 10.43}]
chr8	GH08I093956	93956439	93961400	1.33	[{'connected_gene': 'RPL34P18', 'score': 550.77}, {'connected_gene': 'PIR51498', 'score': 550.77}, {'connected_gene': 'LINC00535', 'score': 11.08}, {'connected_gene': 'FAM92A', 'score': 11.08}, {'connected_gene': 'RBM12B', 'score': 10.65}, {'connected_gene': 'LOC105375645', 'score': 10.65}, {'connected_gene': 'PDP1', 'score': 10.21}, {'connected_gene': 'ENSG00000253722', 'score': 10.18}, {'connected_gene': 'GEM', 'score': 4.72}, {'connected_gene': 'ENSG00000275386', 'score': 0.37}]
chr8	GH08I093955	93955507	93956322	0.94	[{'connected_gene': 'RPL34P18', 'score': 550.77}, {'connected_gene': 'PIR51498', 'score': 550.77}, {'connected_gene': 'RBM12B', 'score': 21.3}, {'connected_gene': 'VIRMA', 'score': 16.43}, {'connected_gene': 'INTS8', 'score': 11.59}, {'connected_gene': 'LINC00535', 'score': 10.55}, {'connected_gene': 'FAM92A', 'score': 10.55}, {'connected_gene': 'LOC105375645', 'score': 10.36}, {'connected_gene': 'PDP1', 'score': 9.86}, {'connected_gene': 'ENSG00000253722', 'score': 9.53}, {'connected_gene': 'PSMA2P2', 'score': 0.39}]
chr8	GH08I093706	93706493	93706642	0.2	[{'connected_gene': 'ENSG00000253722', 'score': 11.12}, {'connected_gene': 'LOC105375645', 'score': 10.99}, {'connected_gene': 'RBM12B', 'score': 10.99}, {'connected_gene': 'FAM92A', 'score': 0.44}, {'connected_gene': 'LINC00535', 'score': 0.44}, {'connected_gene': 'ENSG00000271971', 'score': 0.44}]
chr8	GH08I093730	93730255	93732508	0.83	[{'connected_gene': 'ENSG00000253722', 'score': 550.77}, {'connected_gene': 'LOC105375645', 'score': 36.29}, {'connected_gene': 'FAM92A', 'score': 10.87}, {'connected_gene': 'LINC00535', 'score': 10.87}, {'connected_gene': 'RBM12B', 'score': 0.44}, {'connected_gene': 'ENSG00000253854', 'score': 0.39}]