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
ENST00000256255	[[29920527, 29921429], [29923503, 29923655], [29924292, 29924434], [29927157, 29927575], [29931392, 29931571], [29940362, 29940723]]	[[29921403, 29921429], [29923503, 29923655], [29924292, 29924434], [29927157, 29927575], [29931392, 29931571], [29940362, 29940465]]
ENST00000518174	[[29920613, 29921429], [29923503, 29923655], [29924292, 29924434], [29927157, 29927575], [29931392, 29931567], [29940362, 29940640]]	[[29931547, 29931567], [29940362, 29940465]]
ENST00000521265	[[29920641, 29921429], [29923543, 29923655], [29924292, 29924434], [29927157, 29927575], [29931392, 29931571], [29940362, 29940464]]	[[29921339, 29921429], [29923543, 29923655], [29924292, 29924434], [29927157, 29927575], [29931392, 29931571], [29940362, 29940464]]
ENST00000545648	[[29920641, 29921429], [29923503, 29923655], [29924292, 29924434], [29927157, 29927575], [29931392, 29931415], [29931504, 29931571], [29940362, 29940659]]	[[29921403, 29921429], [29923503, 29923655], [29924292, 29924434], [29927157, 29927341]]
ENST00000520303	[[29920645, 29921429], [29923503, 29923655], [29924292, 29924434], [29927157, 29927575], [29940362, 29940669]]	[[29927564, 29927575], [29940362, 29940465]]
ENST00000536273	[[29921207, 29921429], [29923503, 29923655], [29924292, 29924434], [29927157, 29927575], [29940362, 29940481]]	[[29921403, 29921429], [29923503, 29923655], [29924292, 29924434], [29927157, 29927341]]
ENST00000523127	[[29921310, 29921429], [29923503, 29923583], [29924292, 29924434], [29927157, 29927551]]	[[29921403, 29921429], [29923503, 29923583], [29924292, 29924434], [29927157, 29927551]]
ENST00000518340	[[29921368, 29921413], [29927157, 29927575], [29940362, 29940481]]	[[29927564, 29927575], [29940362, 29940465]]
ENST00000518296	[[29923227, 29923655], [29924292, 29924434], [29927157, 29927465]]	[[29923450, 29923655], [29924292, 29924434], [29927157, 29927465]]
ENST00000521934	[[29923389, 29923655], [29924292, 29924569]]	None
ENST00000522794	[[29924419, 29924434], [29927157, 29927575], [29931392, 29931571], [29939744, 29939940]]	[[29924419, 29924434], [29927157, 29927575], [29931392, 29931566]]
ENST00000522055	[[29927308, 29927575], [29931392, 29931504], [29940377, 29940580]]	[[29931481, 29931504], [29940377, 29940465]]
ENST00000523761	[[29927389, 29927575], [29931392, 29931544], [29940362, 29940590]]	[[29927389, 29927575], [29931392, 29931544], [29940362, 29940465]]
ENST00000517569	[[29931209, 29931571], [29940362, 29940487]]	None
ENST00000521083	[[29931394, 29931571], [29935727, 29935772], [29940362, 29940559]]	None
NM_016127	[[29920527, 29921429], [29923503, 29923655], [29924292, 29924434], [29927157, 29927575], [29931392, 29931571], [29940362, 29940724]]	[[29921403, 29921429], [29923503, 29923655], [29924292, 29924434], [29927157, 29927575], [29931392, 29931571], [29940362, 29940465]]
NM_001284239	[[29920527, 29921429], [29923503, 29923655], [29924292, 29924434], [29927157, 29927575], [29940362, 29940724]]	[[29921403, 29921429], [29923503, 29923655], [29924292, 29924434], [29927157, 29927341]]

Promoter

Chrom	Start	End	Description
chr8	29924377	29924442	CAGE_peak_6_at_TMEM66_5end
chr8	29931437	29931486	CAGE_peak_5_at_TMEM66_5end
chr8	29939744	29939772	CAGE_peak_10_at_TMEM66_5end
chr8	29939837	29939854	CAGE_peak_11_at_TMEM66_5end
chr8	29939916	29939927	CAGE_peak_16_at_TMEM66_5end
chr8	29939933	29939949	CAGE_peak_7_at_TMEM66_5end
chr8	29940475	29940486	CAGE_peak_4_at_TMEM66_5end
chr8	29940544	29940555	CAGE_peak_3_at_TMEM66_5end
chr8	29940569	29940596	CAGE_peak_1_at_TMEM66_5end
chr8	29940628	29940639	CAGE_peak_2_at_TMEM66_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I030144	30144655	30145141	1.32	[{'connected_gene': 'MBOAT4', 'score': 550.39}, {'connected_gene': 'SARAF', 'score': 12.18}, {'connected_gene': 'ENSG00000271869', 'score': 0.39}, {'connected_gene': 'RPS15AP24', 'score': 0.31}, {'connected_gene': 'LEPROTL1', 'score': 0.25}]
chr8	GH08I030102	30102596	30104613	0.86	[{'connected_gene': 'SARAF', 'score': 12.2}, {'connected_gene': 'UBXN8', 'score': 4.89}, {'connected_gene': 'GC08M030097', 'score': 0.44}, {'connected_gene': 'LEPROTL1', 'score': 0.44}, {'connected_gene': 'RPS15AP24', 'score': 0.39}]
chr8	GH08I030149	30149601	30150000	0.2	[{'connected_gene': 'SARAF', 'score': 12.03}, {'connected_gene': 'ENSG00000271869', 'score': 0.44}, {'connected_gene': 'MBOAT4', 'score': 0.44}, {'connected_gene': 'RPS15AP24', 'score': 0.29}, {'connected_gene': 'LEPROTL1', 'score': 0.23}]
chr8	GH08I030079	30079830	30084817	2.31	[{'connected_gene': 'SARAF', 'score': 566.76}, {'connected_gene': 'ENSG00000272256', 'score': 550.77}, {'connected_gene': 'HSPA8P11', 'score': 25.18}, {'connected_gene': 'LEPROTL1', 'score': 23.19}, {'connected_gene': 'WRN', 'score': 21.69}, {'connected_gene': 'GTF2E2', 'score': 20.1}, {'connected_gene': 'RNU6-1218P', 'score': 0.28}]
chr8	GH08I030104	30104998	30106225	0.69	[{'connected_gene': 'SARAF', 'score': 12.2}, {'connected_gene': 'GC08M030097', 'score': 0.39}, {'connected_gene': 'LEPROTL1', 'score': 0.39}, {'connected_gene': 'RPS15AP24', 'score': 0.39}]
chr8	GH08I030086	30086435	30086761	0.2	[{'connected_gene': 'SARAF', 'score': 0.77}, {'connected_gene': 'LEPROTL1', 'score': 0.44}]
chr8	GH08I030055	30055091	30057204	0.62	[{'connected_gene': 'SARAF', 'score': 13.59}, {'connected_gene': 'DUSP4', 'score': 10.55}, {'connected_gene': 'LEPROTL1', 'score': 4.8}, {'connected_gene': 'RNU6-1218P', 'score': 0.39}, {'connected_gene': 'ENSG00000272256', 'score': 0.31}]
chr8	GH08I030060	30060817	30061531	0.38	[{'connected_gene': 'SARAF', 'score': 24.02}, {'connected_gene': 'DUSP4', 'score': 9.83}, {'connected_gene': 'RNU6-1218P', 'score': 0.37}, {'connected_gene': 'ENSG00000272256', 'score': 0.34}]
chr8	GH08I030112	30112183	30114370	1.33	[{'connected_gene': 'LEPROTL1', 'score': 35.87}, {'connected_gene': 'WRN', 'score': 10.25}, {'connected_gene': 'SARAF', 'score': 5.44}, {'connected_gene': 'HSPA8P11', 'score': 5.25}, {'connected_gene': 'RPS15AP24', 'score': 0.77}, {'connected_gene': 'GC08M030097', 'score': 0.37}]
chr8	GH08I030136	30136479	30138054	1.09	[{'connected_gene': 'LEPROTL1', 'score': 30.12}, {'connected_gene': 'WRN', 'score': 29.3}, {'connected_gene': 'SARAF', 'score': 12.13}, {'connected_gene': 'GTF2E2', 'score': 11.84}, {'connected_gene': 'ENSG00000253708', 'score': 10.19}, {'connected_gene': 'HSPA8P11', 'score': 5.46}, {'connected_gene': 'RPS15AP24', 'score': 0.37}, {'connected_gene': 'ENSG00000271869', 'score': 0.37}, {'connected_gene': 'MBOAT4', 'score': 0.34}]
chr8	GH08I030132	30132218	30134965	1.07	[{'connected_gene': 'LEPROTL1', 'score': 12.9}, {'connected_gene': 'SARAF', 'score': 12.13}, {'connected_gene': 'RPS15AP24', 'score': 0.37}, {'connected_gene': 'ENSG00000271869', 'score': 0.34}, {'connected_gene': 'MBOAT4', 'score': 0.31}]
chr8	GH08I030097	30097692	30102331	1.6	[{'connected_gene': 'LEPROTL1', 'score': 46.97}, {'connected_gene': 'SARAF', 'score': 14.98}, {'connected_gene': 'MBOAT4', 'score': 5.26}, {'connected_gene': 'GC08M030097', 'score': 0.77}, {'connected_gene': 'RPS15AP24', 'score': 0.37}]
chr8	GH08I030088	30088167	30097403	2.73	[{'connected_gene': 'LEPROTL1', 'score': 595.63}, {'connected_gene': 'SARAF', 'score': 21.72}, {'connected_gene': 'HSPA8P11', 'score': 19.97}, {'connected_gene': 'WRN', 'score': 17.83}, {'connected_gene': 'GTF2E2', 'score': 11.83}, {'connected_gene': 'ENSG00000253708', 'score': 10.1}, {'connected_gene': 'MBOAT4', 'score': 5.37}, {'connected_gene': 'GC08M030097', 'score': 0.77}]
chr8	GH08I030075	30075983	30077546	1.3	[{'connected_gene': 'LEPROTL1', 'score': 40.67}, {'connected_gene': 'SARAF', 'score': 28.52}, {'connected_gene': 'HSPA8P11', 'score': 13.75}, {'connected_gene': 'PURG', 'score': 12.33}, {'connected_gene': 'MBOAT4', 'score': 5.21}, {'connected_gene': 'ENSG00000272256', 'score': 0.44}, {'connected_gene': 'RNU6-1218P', 'score': 0.29}]
chr8	GH08I030059	30059357	30060740	1.14	[{'connected_gene': 'LEPROTL1', 'score': 25.96}, {'connected_gene': 'SARAF', 'score': 11.69}, {'connected_gene': 'DUSP4', 'score': 9.83}, {'connected_gene': 'MBOAT4', 'score': 5.31}, {'connected_gene': 'RNU6-1218P', 'score': 0.37}, {'connected_gene': 'ENSG00000272256', 'score': 0.34}]
chr8	GH08I030062	30062500	30064596	0.31	[{'connected_gene': 'LEPROTL1', 'score': 25.97}, {'connected_gene': 'SARAF', 'score': 15.34}, {'connected_gene': 'DUSP4', 'score': 9.83}, {'connected_gene': 'ENSG00000272256', 'score': 0.37}, {'connected_gene': 'RNU6-1218P', 'score': 0.37}]
chr8	GH08I030071	30071747	30074978	0.49	[{'connected_gene': 'LEPROTL1', 'score': 27.03}, {'connected_gene': 'SARAF', 'score': 12.9}, {'connected_gene': 'RNU6-1218P', 'score': 11.68}, {'connected_gene': 'ENSG00000272256', 'score': 0.44}]
chr8	GH08I030084	30084891	30085949	0.31	[{'connected_gene': 'LEPROTL1', 'score': 24.68}, {'connected_gene': 'SARAF', 'score': 0.77}]
chr8	GH08I030141	30141148	30142414	1.06	[{'connected_gene': 'LEPROTL1', 'score': 13.14}, {'connected_gene': 'HSPA8P11', 'score': 12.7}, {'connected_gene': 'SARAF', 'score': 12.19}, {'connected_gene': 'WRN', 'score': 11.76}, {'connected_gene': 'ENSG00000271869', 'score': 0.39}, {'connected_gene': 'MBOAT4', 'score': 0.37}, {'connected_gene': 'RPS15AP24', 'score': 0.34}]
chr8	GH08I030032	30032703	30035696	0.54	[{'connected_gene': 'LEPROTL1', 'score': 28.44}, {'connected_gene': 'DUSP4', 'score': 10.23}, {'connected_gene': 'SARAF', 'score': 9.39}, {'connected_gene': 'MAP2K1P1', 'score': 0.44}, {'connected_gene': 'RNU6-1218P', 'score': 0.44}]
chr8	GH08I030069	30069158	30070222	0.2	[{'connected_gene': 'LEPROTL1', 'score': 27.47}, {'connected_gene': 'RNU6-1218P', 'score': 11.0}, {'connected_gene': 'ENSG00000272256', 'score': 0.39}, {'connected_gene': 'SARAF', 'score': 0.39}]
chr8	GH08I030065	30065479	30068474	0.38	[{'connected_gene': 'LEPROTL1', 'score': 30.27}, {'connected_gene': 'RNU6-1218P', 'score': 11.39}, {'connected_gene': 'ENSG00000272256', 'score': 0.37}, {'connected_gene': 'SARAF', 'score': 0.37}]
chr8	GH08I029806	29806166	29807213	0.66	[{'connected_gene': 'DUSP4', 'score': 11.47}, {'connected_gene': 'LEPROTL1', 'score': 4.33}, {'connected_gene': 'SARAF', 'score': 4.03}, {'connected_gene': 'GC08P029814', 'score': 0.44}, {'connected_gene': 'LINC02099', 'score': 0.22}]
chr8	GH08I029734	29734608	29740429	1.67	[{'connected_gene': 'DUSP4', 'score': 9.46}, {'connected_gene': 'KIF13B', 'score': 4.25}, {'connected_gene': 'SARAF', 'score': 2.6}, {'connected_gene': 'LEPROTL1', 'score': 1.45}, {'connected_gene': 'LINC00589', 'score': 0.39}, {'connected_gene': 'RPL17P33', 'score': 0.14}]
chr8	GH08I030155	30155136	30158594	2.08	[{'connected_gene': 'DCTN6', 'score': 550.77}, {'connected_gene': 'ENSG00000271869', 'score': 550.77}, {'connected_gene': 'MBOAT4', 'score': 550.77}, {'connected_gene': 'WRN', 'score': 24.2}, {'connected_gene': 'LEPROTL1', 'score': 16.59}, {'connected_gene': 'SARAF', 'score': 12.25}, {'connected_gene': 'DUSP4', 'score': 10.55}, {'connected_gene': 'HSPA8P11', 'score': 9.98}]
chr8	GH08I030076	30075465	30075614	0.4	[{'connected_gene': 'RNU6-1218P', 'score': 11.67}, {'connected_gene': 'ENSG00000272256', 'score': 0.44}, {'connected_gene': 'SARAF', 'score': 0.44}]
chr8	GH08I030390	30390176	30402482	1.28	[{'connected_gene': 'RBPMS-AS1', 'score': 9.68}, {'connected_gene': 'UBXN8', 'score': 7.57}, {'connected_gene': 'GTF2E2', 'score': 4.25}, {'connected_gene': 'SARAF', 'score': 4.16}, {'connected_gene': 'RBPMS', 'score': 0.39}, {'connected_gene': 'PIR31328', 'score': 0.1}]
chr8	GH08I030382	30382627	30388044	2.18	[{'connected_gene': 'RBPMS-AS1', 'score': 576.34}, {'connected_gene': 'RBPMS', 'score': 550.77}, {'connected_gene': 'UBXN8', 'score': 5.19}, {'connected_gene': 'SARAF', 'score': 4.31}]
chr8	GH08I030078	30078245	30078394	0.4	[{'connected_gene': 'ENSG00000272256', 'score': 0.77}, {'connected_gene': 'SARAF', 'score': 0.77}, {'connected_gene': 'RNU6-1218P', 'score': 0.29}]