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
ENST00000370918	[[53132195, 53134068], [53135390, 53135525], [53138017, 53138142], [53139887, 53140059], [53140976, 53141054], [53156573, 53156583], [53156613, 53156761], [53160439, 53160505], [53213614, 53213947]]	[[53133924, 53134068], [53135390, 53135525], [53138017, 53138142], [53139887, 53140059], [53140976, 53141054], [53156573, 53156583], [53156613, 53156761], [53160439, 53160497]]
ENST00000304434	[[53132196, 53134068], [53135390, 53135525], [53138017, 53138142], [53139887, 53140059], [53140976, 53141054], [53156573, 53156761], [53160439, 53160505], [53213614, 53213805]]	[[53133924, 53134068], [53135390, 53135525], [53138017, 53138142], [53139887, 53140059], [53140976, 53141054], [53156573, 53156761], [53160439, 53160497]]
ENST00000542638	[[53132202, 53134068], [53135390, 53135525], [53138017, 53138142], [53139887, 53140059], [53140976, 53141054], [53156573, 53156761], [53160439, 53160505], [53213147, 53213587]]	[[53133924, 53134068], [53135390, 53135525], [53138017, 53138142], [53139887, 53140059], [53140976, 53141054], [53156573, 53156761], [53160439, 53160497]]
ENST00000541407	[[53133556, 53134068], [53135390, 53135525], [53138017, 53138142], [53139887, 53140059], [53140976, 53141054], [53152659, 53152740], [53156573, 53156761], [53160439, 53160505], [53213614, 53213748]]	[[53133924, 53134068], [53135390, 53135525], [53138017, 53138142], [53139887, 53140059], [53140976, 53141054], [53152659, 53152740], [53156573, 53156761], [53160439, 53160497]]
ENST00000485336	[[53139922, 53140059], [53140976, 53141054], [53155198, 53155333], [53156573, 53156761], [53160439, 53160505], [53213614, 53213771]]	None
ENST00000486973	[[53140976, 53141054], [53142443, 53142541], [53154892, 53154987], [53155198, 53155333], [53156573, 53156761], [53160439, 53160505], [53213614, 53213748]]	None
ENST00000465983	[[53140976, 53141054], [53154892, 53154987], [53155198, 53155333], [53156573, 53156761], [53160439, 53160505], [53213614, 53213748]]	None
ENST00000370913	[[53158885, 53159289], [53160439, 53160505], [53213614, 53213724]]	[[53159080, 53159289], [53160439, 53160497]]
NM_001301856	[[53132195, 53134068], [53135390, 53135525], [53138017, 53138142], [53139887, 53140059], [53140976, 53141054], [53156573, 53156761], [53160439, 53160505], [53213147, 53213743]]	[[53133924, 53134068], [53135390, 53135525], [53138017, 53138142], [53139887, 53140059], [53140976, 53141054], [53156573, 53156761], [53160439, 53160497]]
NM_001242828	[[53132195, 53134068], [53135390, 53135525], [53138017, 53138142], [53139887, 53140059], [53140976, 53141054], [53152659, 53152740], [53156573, 53156761], [53160439, 53160505], [53213614, 53213977]]	[[53133924, 53134068], [53135390, 53135525], [53138017, 53138142], [53139887, 53140059], [53140976, 53141054], [53152659, 53152740], [53156573, 53156761], [53160439, 53160497]]
NM_021814	[[53132195, 53134068], [53135390, 53135525], [53138017, 53138142], [53139887, 53140059], [53140976, 53141054], [53156573, 53156761], [53160439, 53160505], [53213614, 53213977]]	[[53133924, 53134068], [53135390, 53135525], [53138017, 53138142], [53139887, 53140059], [53140976, 53141054], [53156573, 53156761], [53160439, 53160497]]
NM_001242830	[[53132195, 53134068], [53135390, 53135525], [53139887, 53140059], [53140976, 53141054], [53156573, 53156761], [53160439, 53160505], [53213614, 53213977]]	[[53133910, 53134068], [53135390, 53135525], [53139887, 53140059], [53140976, 53141054], [53156573, 53156761], [53160439, 53160497]]
NM_001242831	[[53158885, 53159289], [53160439, 53160505], [53213614, 53213977]]	[[53159080, 53159289], [53160439, 53160497]]

Promoter

Chrom	Start	End	Description
chr6	53133128	53133164	CAGE_peak_3_at_ELOVL5_5end
chr6	53133482	53133494	CAGE_peak_7_at_ELOVL5_5end
chr6	53133571	53133583	CAGE_peak_5_at_ELOVL5_5end
chr6	53133678	53133695	CAGE_peak_6_at_ELOVL5_5end
chr6	53213700	53213772	CAGE_peak_1_at_ELOVL5_5end
chr6	53213780	53213785	CAGE_peak_2_at_ELOVL5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I053332	53332801	53339193	1.54	[{'connected_gene': 'RPS16P5', 'score': 550.77}, {'connected_gene': 'ELOVL5', 'score': 12.87}, {'connected_gene': 'FBXO9', 'score': 5.86}, {'connected_gene': 'PIR59384', 'score': 0.25}]
chr6	GH06I053322	53321001	53321400	0.76	[{'connected_gene': 'RPS16P5', 'score': 0.37}, {'connected_gene': 'ELOVL5', 'score': 0.31}, {'connected_gene': 'PIR59384', 'score': 0.29}]
chr6	GH06I053330	53330081	53330425	0.4	[{'connected_gene': 'ELOVL5', 'score': 6.22}, {'connected_gene': 'RPS16P5', 'score': 0.44}, {'connected_gene': 'PIR59384', 'score': 0.26}]
chr6	GH06I053287	53287649	53292894	0.87	[{'connected_gene': 'ELOVL5', 'score': 18.16}, {'connected_gene': 'RPL31P28', 'score': 11.98}, {'connected_gene': 'PIR59384', 'score': 0.77}, {'connected_gene': 'RPS16P5', 'score': 0.25}]
chr6	GH06I053296	53296608	53297673	0.49	[{'connected_gene': 'ELOVL5', 'score': 18.15}, {'connected_gene': 'RPL31P28', 'score': 12.28}, {'connected_gene': 'PIR59384', 'score': 0.39}, {'connected_gene': 'RPS16P5', 'score': 0.26}]
chr6	GH06I053299	53299306	53304425	1.28	[{'connected_gene': 'ELOVL5', 'score': 18.62}, {'connected_gene': 'RPL31P28', 'score': 12.75}, {'connected_gene': 'PIR59384', 'score': 0.39}, {'connected_gene': 'RPS16P5', 'score': 0.28}]
chr6	GH06I053315	53315001	53315200	0.58	[{'connected_gene': 'ELOVL5', 'score': 11.95}, {'connected_gene': 'RPL31P28', 'score': 11.94}, {'connected_gene': 'RPS16P5', 'score': 0.34}, {'connected_gene': 'PIR59384', 'score': 0.31}]
chr6	GH06I053316	53316001	53316600	0.51	[{'connected_gene': 'ELOVL5', 'score': 11.95}, {'connected_gene': 'RPL31P28', 'score': 11.94}, {'connected_gene': 'RPS16P5', 'score': 0.34}, {'connected_gene': 'PIR59384', 'score': 0.31}]
chr6	GH06I053293	53293743	53296027	0.86	[{'connected_gene': 'ELOVL5', 'score': 18.46}, {'connected_gene': 'RPL31P28', 'score': 12.28}, {'connected_gene': 'PIR59384', 'score': 0.44}, {'connected_gene': 'RPS16P5', 'score': 0.26}]
chr6	GH06I053357	53357067	53362593	1.85	[{'connected_gene': 'ELOVL5', 'score': 6.4}, {'connected_gene': 'RPL31P28', 'score': 0.44}, {'connected_gene': 'RPL31P33', 'score': 0.44}]
chr6	GH06I053321	53321801	53324192	1.28	[{'connected_gene': 'ELOVL5', 'score': 18.35}, {'connected_gene': 'EFHC1', 'score': 12.99}, {'connected_gene': 'RPL31P28', 'score': 12.48}, {'connected_gene': 'RPS16P5', 'score': 0.39}, {'connected_gene': 'PIR59384', 'score': 0.28}]
chr6	GH06I053346	53346518	53350022	2.26	[{'connected_gene': 'ELOVL5', 'score': 556.97}, {'connected_gene': 'ENSG00000271367', 'score': 550.77}, {'connected_gene': 'GC06P053343', 'score': 0.44}]
chr6	GH06I053344	53344591	53345577	0.71	[{'connected_gene': 'ELOVL5', 'score': 6.62}, {'connected_gene': 'GC06P053343', 'score': 0.77}]
chr6	GH06I053343	53343177	53343236	0.81	[{'connected_gene': 'ELOVL5', 'score': 556.28}, {'connected_gene': 'GC06P053343', 'score': 0.77}]
chr6	GH06I053331	53331766	53332232	0.38	[{'connected_gene': 'RPL31P28', 'score': 12.64}, {'connected_gene': 'RPS16P5', 'score': 0.44}, {'connected_gene': 'ELOVL5', 'score': 0.37}, {'connected_gene': 'PIR59384', 'score': 0.25}]
chr6	GH06I053354	53354750	53356333	0.31	[{'connected_gene': 'RPL31P28', 'score': 550.77}, {'connected_gene': 'ELOVL5', 'score': 6.69}, {'connected_gene': 'RPL31P33', 'score': 0.39}]
chr6	GH06I053440	53440401	53440600	0.69	[{'connected_gene': 'RPL31P28', 'score': 10.14}, {'connected_gene': 'ELOVL5', 'score': 10.13}, {'connected_gene': 'NANOGP3', 'score': 0.34}, {'connected_gene': 'LOC105375095', 'score': 0.29}]
chr6	GH06I053432	53432124	53433939	1.51	[{'connected_gene': 'RPL31P28', 'score': 11.0}, {'connected_gene': 'ELOVL5', 'score': 11.0}, {'connected_gene': 'NANOGP3', 'score': 0.39}, {'connected_gene': 'LOC105375095', 'score': 0.26}]
chr6	GH06I053439	53439689	53439832	0.58	[{'connected_gene': 'RPL31P28', 'score': 10.14}, {'connected_gene': 'ELOVL5', 'score': 10.13}, {'connected_gene': 'NANOGP3', 'score': 0.34}, {'connected_gene': 'LOC105375095', 'score': 0.29}]
chr6	GH06I053352	53352301	53354407	0.66	[{'connected_gene': 'RPL31P28', 'score': 550.77}, {'connected_gene': 'ELOVL5', 'score': 6.82}, {'connected_gene': 'ENSG00000271367', 'score': 0.77}]
chr6	GH06I053324	53324351	53329105	1.25	[{'connected_gene': 'EFHC1', 'score': 12.3}, {'connected_gene': 'ELOVL5', 'score': 6.51}, {'connected_gene': 'RPS16P5', 'score': 0.39}, {'connected_gene': 'PIR59384', 'score': 0.28}]
chr6	GH06I053306	53306401	53314482	1.68	[{'connected_gene': 'EFHC1', 'score': 34.14}, {'connected_gene': 'ELOVL5', 'score': 20.27}, {'connected_gene': 'RPL31P28', 'score': 11.92}, {'connected_gene': 'FBXO9', 'score': 6.19}, {'connected_gene': 'PIR59384', 'score': 0.34}, {'connected_gene': 'RPS16P5', 'score': 0.31}]
chr6	GH06I053275	53275981	53277157	0.2	[{'connected_gene': 'MIR5685', 'score': 550.77}, {'connected_gene': 'ELOVL5', 'score': 4.62}, {'connected_gene': 'GC06P053274', 'score': 0.77}]
chr6	GH06I053278	53278230	53278925	0.38	[{'connected_gene': 'MIR5685', 'score': 550.77}, {'connected_gene': 'GC06M053279', 'score': 550.77}, {'connected_gene': 'GC06P053274', 'score': 0.77}, {'connected_gene': 'ELOVL5', 'score': 0.19}]
chr6	GH06I053271	53271458	53274521	0.43	[{'connected_gene': 'GC06P053274', 'score': 550.77}, {'connected_gene': 'ELOVL5', 'score': 6.17}, {'connected_gene': 'GC06P053245', 'score': 0.31}]
chr6	GH06I053350	53350103	53350187	0.74	[{'connected_gene': 'ENSG00000271367', 'score': 550.77}, {'connected_gene': 'ELOVL5', 'score': 550.77}]
chr6	GH06I053281	53281972	53283413	0.71	[{'connected_gene': 'PIR59384', 'score': 0.77}, {'connected_gene': 'GC06M053279', 'score': 0.77}, {'connected_gene': 'ELOVL5', 'score': 0.2}]
chr6	GH06I053279	53279243	53280778	0.43	[{'connected_gene': 'GC06M053279', 'score': 550.77}, {'connected_gene': 'PIR59384', 'score': 0.44}, {'connected_gene': 'GC06P053274', 'score': 0.44}, {'connected_gene': 'ELOVL5', 'score': 0.2}]
chr6	GH06I053280	53280815	53281577	0.54	[{'connected_gene': 'GC06M053279', 'score': 550.77}, {'connected_gene': 'PIR59384', 'score': 0.44}, {'connected_gene': 'ELOVL5', 'score': 0.2}]
chr6	GH06I053340	53340468	53342429	0.2	[{'connected_gene': 'GC06P053343', 'score': 550.77}, {'connected_gene': 'ELOVL5', 'score': 6.6}]
chr6	GH06I053253	53253757	53260487	0.54	[{'connected_gene': 'ENSG00000218713', 'score': 9.4}, {'connected_gene': 'RPL31P28', 'score': 5.11}, {'connected_gene': 'ELOVL5', 'score': 4.86}, {'connected_gene': 'GC06P053245', 'score': 0.39}, {'connected_gene': 'GC06P053274', 'score': 0.37}]
chr6	GH06I053240	53240549	53245911	1.06	[{'connected_gene': 'GC06P053245', 'score': 550.77}, {'connected_gene': 'PIR59274', 'score': 550.77}, {'connected_gene': 'RPL31P28', 'score': 15.72}, {'connected_gene': 'ELOVL5', 'score': 11.45}]