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
ENST00000424957	[[88742562, 88742623], [88755854, 88755920], [88759783, 88759837], [88766128, 88767969]]	[[88755866, 88755920], [88759783, 88759837], [88766128, 88767598]]
ENST00000395102	[[88754068, 88754166], [88755854, 88755920], [88759783, 88759837], [88760836, 88760929], [88766128, 88767940]]	[[88755866, 88755920], [88759783, 88759837], [88760836, 88760929], [88766128, 88767598]]
ENST00000497649	[[88754101, 88754166], [88755854, 88755920], [88758790, 88758926], [88759783, 88759837], [88760836, 88760929], [88766128, 88767940]]	[[88760893, 88760929], [88766128, 88767598]]
ENST00000515821	[[88754120, 88754166], [88755854, 88755920], [88759783, 88759837], [88761078, 88761184], [88766128, 88766418]]	None
ENST00000508016	[[88754120, 88754166], [88755854, 88755920], [88759783, 88759837], [88760836, 88760929], [88761078, 88761184], [88766128, 88767940]]	None
ENST00000540395	[[88754120, 88754166], [88755854, 88755920], [88759783, 88759837], [88761078, 88761206], [88766128, 88767969]]	[[88766359, 88767598]]
ENST00000560249	[[88754120, 88754166], [88755854, 88755920], [88759783, 88759837], [88760836, 88760929], [88761078, 88761184], [88766128, 88767969]]	[[88766359, 88767598]]
ENST00000511670	[[88754128, 88754166], [88755854, 88755920], [88759783, 88759837], [88761078, 88761206], [88766128, 88766392]]	[[88755866, 88755920], [88759783, 88759837], [88761078, 88761206], [88766128, 88766183]]
ENST00000361056	[[88754138, 88754166], [88755854, 88755920], [88759783, 88759837], [88766128, 88767966]]	[[88755866, 88755920], [88759783, 88759837], [88766128, 88767598]]
NM_001184694	[[88742549, 88742623], [88755854, 88755920], [88759783, 88759837], [88766128, 88767969]]	[[88755866, 88755920], [88759783, 88759837], [88766128, 88767598]]
NM_020203	[[88754120, 88754166], [88755854, 88755920], [88759783, 88759837], [88766128, 88767969]]	[[88755866, 88755920], [88759783, 88759837], [88766128, 88767598]]
NM_001184695	[[88754120, 88754166], [88755854, 88755920], [88759783, 88759837], [88761078, 88761184], [88766128, 88767969]]	[[88766359, 88767598]]
NM_001184696	[[88754120, 88754166], [88755854, 88755920], [88759783, 88759837], [88761078, 88761206], [88766128, 88767969]]	[[88766359, 88767598]]
NM_001184697	[[88754120, 88754166], [88755854, 88755920], [88759783, 88759837], [88760836, 88760929], [88761078, 88761184], [88766128, 88767969]]	[[88766359, 88767598]]
NM_001291183	[[88755854, 88755920], [88759783, 88759837], [88760836, 88760929], [88766128, 88767969]]	[[88755866, 88755920], [88759783, 88759837], [88760836, 88760929], [88766128, 88767598]]

Promoter

Chrom	Start	End	Description
chr4	88754109	88754112	CAGE_peak_2_at_MEPE_5end
chr4	88754113	88754126	CAGE_peak_1_at_MEPE_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I087588	87588929	87590298	0.89	[{'connected_gene': 'DMP1', 'score': 10.71}, {'connected_gene': 'SPARCL1', 'score': 10.26}, {'connected_gene': 'MEPE', 'score': 10.18}, {'connected_gene': 'DSPP', 'score': 0.37}, {'connected_gene': 'ENSG00000249001', 'score': 0.11}]
chr4	GH04I087524	87524861	87531506	1.78	[{'connected_gene': 'SPARCL1', 'score': 569.46}, {'connected_gene': 'DMP1', 'score': 10.13}, {'connected_gene': 'ENSG00000272856', 'score': 5.38}, {'connected_gene': 'MEPE', 'score': 1.9}, {'connected_gene': 'LOC105377322', 'score': 0.44}]
chr4	GH04I087832	87832920	87832979	0.5	[{'connected_gene': 'MEPE', 'score': 550.39}, {'connected_gene': 'IBSP', 'score': 10.58}, {'connected_gene': 'SPARCL1', 'score': 9.26}, {'connected_gene': 'HSP90AB3P', 'score': 0.22}]
chr4	GH04I087823	87823527	87823586	0.5	[{'connected_gene': 'MEPE', 'score': 550.77}, {'connected_gene': 'IBSP', 'score': 10.26}, {'connected_gene': 'HSP90AB3P', 'score': 0.2}]
chr4	GH04I087818	87818859	87820410	0.85	[{'connected_gene': 'MEPE', 'score': 550.77}, {'connected_gene': 'SPP1', 'score': 6.38}, {'connected_gene': 'IBSP', 'score': 0.34}]
chr4	GH04I087806	87806001	87807831	0.76	[{'connected_gene': 'IBSP', 'score': 5.26}, {'connected_gene': 'MEPE', 'score': 0.39}]
chr4	GH04I087848	87848801	87849400	0.62	[{'connected_gene': 'SPP1', 'score': 11.98}, {'connected_gene': 'MEPE', 'score': 0.31}, {'connected_gene': 'HSP90AB3P', 'score': 0.26}]
chr4	GH04I087852	87852001	87852200	0.2	[{'connected_gene': 'SPP1', 'score': 20.62}, {'connected_gene': 'MEPE', 'score': 0.29}, {'connected_gene': 'HSP90AB3P', 'score': 0.28}]
chr4	GH04I087843	87843741	87844784	0.87	[{'connected_gene': 'SPP1', 'score': 21.08}, {'connected_gene': 'MEPE', 'score': 11.47}, {'connected_gene': 'PKD2', 'score': 10.2}, {'connected_gene': 'HSD17B11', 'score': 1.63}, {'connected_gene': 'HSP90AB3P', 'score': 0.25}]
chr4	GH04I087935	87935002	87936229	0.38	[{'connected_gene': 'SPP1', 'score': 16.41}, {'connected_gene': 'MEPE', 'score': 5.75}, {'connected_gene': 'PIR37483', 'score': 0.29}]
chr4	GH04I087926	87926249	87927633	0.46	[{'connected_gene': 'SPP1', 'score': 8.49}, {'connected_gene': 'MEPE', 'score': 5.37}, {'connected_gene': 'PIR37483', 'score': 0.34}]
chr4	GH04I087949	87949767	87951161	0.72	[{'connected_gene': 'SPP1', 'score': 10.83}, {'connected_gene': 'MEPE', 'score': 4.64}, {'connected_gene': 'PIR37483', 'score': 0.25}]
chr4	GH04I087916	87916649	87922398	0.74	[{'connected_gene': 'SPP1', 'score': 19.03}, {'connected_gene': 'MEPE', 'score': 5.94}, {'connected_gene': 'PIR37483', 'score': 0.37}]
chr4	GH04I087934	87934429	87934578	0.31	[{'connected_gene': 'SPP1', 'score': 10.48}, {'connected_gene': 'MEPE', 'score': 5.76}, {'connected_gene': 'PIR37483', 'score': 0.29}]
chr4	GH04I087850	87850601	87851857	0.58	[{'connected_gene': 'SPP1', 'score': 22.11}, {'connected_gene': 'HSD17B13', 'score': 4.67}, {'connected_gene': 'MEPE', 'score': 0.31}, {'connected_gene': 'HSP90AB3P', 'score': 0.26}]
chr4	GH04I087849	87849573	87850200	0.88	[{'connected_gene': 'SPP1', 'score': 22.2}, {'connected_gene': 'IBSP', 'score': 4.58}, {'connected_gene': 'HSD17B11', 'score': 1.87}, {'connected_gene': 'MEPE', 'score': 0.31}, {'connected_gene': 'HSP90AB3P', 'score': 0.26}]
chr4	GH04I087909	87909406	87913085	1.28	[{'connected_gene': 'SPP1', 'score': 19.3}, {'connected_gene': 'PKD2', 'score': 10.59}, {'connected_gene': 'MEPE', 'score': 7.24}, {'connected_gene': 'PIR37483', 'score': 0.44}]
chr4	GH04I087864	87864260	87869251	1.12	[{'connected_gene': 'SPP1', 'score': 15.65}, {'connected_gene': 'ENSG00000249001', 'score': 5.45}, {'connected_gene': 'ENSG00000272856', 'score': 4.97}, {'connected_gene': 'PKD2', 'score': 4.95}, {'connected_gene': 'HSP90AB3P', 'score': 0.34}, {'connected_gene': 'MEPE', 'score': 0.25}]
chr4	GH04I087539	87539911	87542485	0.96	[{'connected_gene': 'DSPP', 'score': 11.7}, {'connected_gene': 'DMP1', 'score': 10.07}, {'connected_gene': 'SPARCL1', 'score': 8.74}, {'connected_gene': 'ENSG00000272856', 'score': 4.85}, {'connected_gene': 'PTPN13', 'score': 4.53}, {'connected_gene': 'MEPE', 'score': 1.32}]
chr4	GH04I088291	88291008	88291297	0.8	[{'connected_gene': 'PPM1K', 'score': 2.81}, {'connected_gene': 'MEPE', 'score': 2.3}, {'connected_gene': 'NAP1L5', 'score': 2.21}, {'connected_gene': 'LOC105369192', 'score': 0.44}, {'connected_gene': 'GC04M088332', 'score': 0.28}, {'connected_gene': 'ENSG00000207480', 'score': 0.28}]
chr4	GH04I088195	88195147	88197250	0.69	[{'connected_gene': 'LOC105369192', 'score': 6.75}, {'connected_gene': 'MEPE', 'score': 4.78}, {'connected_gene': 'RNU6-818P', 'score': 0.44}, {'connected_gene': 'RPL31P24', 'score': 0.29}, {'connected_gene': 'ABCG2', 'score': 0.28}]
chr4	GH04I087872	87872063	87872406	0.22	[{'connected_gene': 'ENSG00000249001', 'score': 5.67}, {'connected_gene': 'HSP90AB3P', 'score': 0.37}, {'connected_gene': 'MEPE', 'score': 0.23}]