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
ENST00000558045	[[24608173, 24608732]]	None
ENST00000560403	[[24608173, 24608405], [24608568, 24608663], [24608753, 24608998], [24610097, 24610174], [24610556, 24610779]]	[[24608218, 24608405], [24608568, 24608663], [24608753, 24608876]]
ENST00000419198	[[24608173, 24608405], [24608568, 24608663], [24608753, 24608823], [24610097, 24610174], [24610315, 24610794]]	[[24608218, 24608405], [24608568, 24608663], [24608753, 24608823], [24610097, 24610174], [24610315, 24610513]]
ENST00000216799	[[24608173, 24608405], [24608568, 24608663], [24608753, 24608823], [24610097, 24610174], [24610315, 24610525], [24610646, 24610797]]	[[24608218, 24608405], [24608568, 24608663], [24608753, 24608823], [24610097, 24610174], [24610315, 24610513]]
ENST00000560600	[[24608338, 24608405], [24608568, 24608663], [24608753, 24609025], [24610097, 24610174], [24610315, 24610525], [24610646, 24610696]]	[[24609015, 24609025], [24610097, 24610174], [24610315, 24610513]]
ENST00000559101	[[24608597, 24608663], [24608753, 24609217]]	None
ENST00000558200	[[24608753, 24608998], [24610097, 24610174], [24610315, 24610762]]	None
NM_001346877	[[24608173, 24608405], [24608568, 24608663], [24608753, 24609025], [24610097, 24610174], [24610556, 24610797]]	[[24608218, 24608405], [24608568, 24608663], [24608753, 24608876]]
NM_001346876	[[24608173, 24608405], [24608568, 24608663], [24608753, 24608998], [24610097, 24610174], [24610556, 24610797]]	[[24608218, 24608405], [24608568, 24608663], [24608753, 24608876]]
NM_001346874	[[24608173, 24608405], [24608568, 24608663], [24608753, 24609025], [24610097, 24610174], [24610315, 24610525], [24610646, 24610797]]	[[24608218, 24608405], [24608568, 24608663], [24608753, 24608876]]
NM_001346875	[[24608173, 24608405], [24608568, 24608663], [24608753, 24608998], [24610097, 24610174], [24610315, 24610525], [24610646, 24610797]]	[[24608218, 24608405], [24608568, 24608663], [24608753, 24608876]]
NM_016049	[[24608173, 24608405], [24608568, 24608663], [24608753, 24608823], [24610097, 24610174], [24610315, 24610525], [24610646, 24610797]]	[[24608218, 24608405], [24608568, 24608663], [24608753, 24608823], [24610097, 24610174], [24610315, 24610513]]

Promoter

Chrom	Start	End	Description
chr14	24610660	24610692	CAGE_peak_3_at_FAM158A_5end
chr14	24610694	24610724	CAGE_peak_2_at_FAM158A_5end
chr14	24610746	24610758	CAGE_peak_4_at_FAM158A_5end
chr14	24610792	24610834	CAGE_peak_1_at_FAM158A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I024106	24106201	24106400	0.69	[{'connected_gene': 'CPNE6', 'score': 12.12}, {'connected_gene': 'CARMIL3', 'score': 11.98}, {'connected_gene': 'FITM1', 'score': 11.34}, {'connected_gene': 'PSME1', 'score': 11.31}, {'connected_gene': 'IRF9', 'score': 11.21}, {'connected_gene': 'EMC9', 'score': 10.96}, {'connected_gene': 'PSME2', 'score': 10.81}, {'connected_gene': 'RNF31', 'score': 10.81}, {'connected_gene': 'TM9SF1', 'score': 10.34}, {'connected_gene': 'ENSG00000254692', 'score': 9.96}, {'connected_gene': 'CHMP4A', 'score': 9.96}, {'connected_gene': 'NRL', 'score': 0.44}, {'connected_gene': 'DCAF11', 'score': 0.44}, {'connected_gene': 'PCK2', 'score': 0.39}]
chr14	GH14I024080	24080532	24082348	1.44	[{'connected_gene': 'CARMIL3', 'score': 12.89}, {'connected_gene': 'PSME2', 'score': 10.67}, {'connected_gene': 'RNF31', 'score': 10.67}, {'connected_gene': 'IPO4', 'score': 10.35}, {'connected_gene': 'TM9SF1', 'score': 10.34}, {'connected_gene': 'REC8', 'score': 9.96}, {'connected_gene': 'EMC9', 'score': 9.21}, {'connected_gene': 'PCK2', 'score': 0.39}, {'connected_gene': 'CPNE6', 'score': 0.39}, {'connected_gene': 'NRL', 'score': 0.29}]
chr14	GH14I024079	24079812	24079961	0.59	[{'connected_gene': 'CARMIL3', 'score': 11.97}, {'connected_gene': 'EMC9', 'score': 9.13}, {'connected_gene': 'CPNE6', 'score': 0.44}, {'connected_gene': 'PCK2', 'score': 0.39}, {'connected_gene': 'NRL', 'score': 0.28}]
chr14	GH14I024187	24187003	24189616	1.83	[{'connected_gene': 'IPO4', 'score': 569.28}, {'connected_gene': 'NGDN', 'score': 66.93}, {'connected_gene': 'RNA5SP383', 'score': 43.21}, {'connected_gene': 'KHNYN', 'score': 41.17}, {'connected_gene': 'RNF31', 'score': 39.97}, {'connected_gene': 'NFATC4', 'score': 36.33}, {'connected_gene': 'LOC102724814', 'score': 33.71}, {'connected_gene': 'ENSG00000259321', 'score': 23.33}, {'connected_gene': 'SDR39U1', 'score': 21.94}, {'connected_gene': 'SLC22A17', 'score': 21.61}, {'connected_gene': 'NYNRIN', 'score': 20.91}, {'connected_gene': 'CIDEB', 'score': 19.83}, {'connected_gene': 'NOP9', 'score': 19.01}, {'connected_gene': 'EFS', 'score': 17.98}, {'connected_gene': 'TM9SF1', 'score': 12.94}, {'connected_gene': 'JPH4', 'score': 12.72}, {'connected_gene': 'TSSK4', 'score': 11.95}, {'connected_gene': 'TINF2', 'score': 11.77}, {'connected_gene': 'BCL2L2-PABPN1', 'score': 10.83}, {'connected_gene': 'RABGGTA', 'score': 10.18}, {'connected_gene': 'BCL2L2', 'score': 9.99}, {'connected_gene': 'HOMEZ', 'score': 9.85}, {'connected_gene': 'DHRS4L2', 'score': 5.43}, {'connected_gene': 'EMC9', 'score': 5.16}, {'connected_gene': 'ENSG00000259522', 'score': 0.77}, {'connected_gene': 'PIR48221', 'score': 0.77}, {'connected_gene': 'ENSG00000254692', 'score': 0.31}]
chr14	GH14I024135	24135127	24138014	2.28	[{'connected_gene': 'PSME1', 'score': 550.77}, {'connected_gene': 'EMC9', 'score': 31.8}, {'connected_gene': 'RNF31', 'score': 6.03}, {'connected_gene': 'ENSG00000259321', 'score': 0.77}]
chr14	GH14I024144	24144978	24148724	2.03	[{'connected_gene': 'RNF31', 'score': 556.53}, {'connected_gene': 'PSME2', 'score': 550.77}, {'connected_gene': 'EMC9', 'score': 30.53}]
chr14	GH14I024091	24090400	24096893	2.51	[{'connected_gene': 'PCK2', 'score': 550.77}, {'connected_gene': 'RNA5SP383', 'score': 31.84}, {'connected_gene': 'NGDN', 'score': 31.53}, {'connected_gene': 'ACIN1', 'score': 27.27}, {'connected_gene': 'NYNRIN', 'score': 22.27}, {'connected_gene': 'NFATC4', 'score': 21.86}, {'connected_gene': 'KHNYN', 'score': 21.33}, {'connected_gene': 'IPO4', 'score': 20.52}, {'connected_gene': 'SLC7A8', 'score': 14.08}, {'connected_gene': 'TINF2', 'score': 12.92}, {'connected_gene': 'CARMIL3', 'score': 11.9}, {'connected_gene': 'C14orf119', 'score': 11.57}, {'connected_gene': 'NRL', 'score': 11.43}, {'connected_gene': 'DCAF11', 'score': 11.43}, {'connected_gene': 'SDR39U1', 'score': 11.24}, {'connected_gene': 'ENSG00000259321', 'score': 10.98}, {'connected_gene': 'TM9SF1', 'score': 10.67}, {'connected_gene': 'IRF9', 'score': 10.38}, {'connected_gene': 'RNF31', 'score': 10.16}, {'connected_gene': 'EMC9', 'score': 10.11}, {'connected_gene': 'LOC102724814', 'score': 10.05}, {'connected_gene': 'EFS', 'score': 9.91}, {'connected_gene': 'TSSK4', 'score': 9.89}, {'connected_gene': 'NOP9', 'score': 9.77}, {'connected_gene': 'DHRS4', 'score': 5.72}, {'connected_gene': 'CPNE6', 'score': 0.34}]
chr14	GH14I024108	24108116	24109600	1.19	[{'connected_gene': 'EMC9', 'score': 17.68}, {'connected_gene': 'CPNE6', 'score': 12.12}, {'connected_gene': 'CARMIL3', 'score': 11.97}, {'connected_gene': 'FITM1', 'score': 11.34}, {'connected_gene': 'PSME1', 'score': 11.31}, {'connected_gene': 'IRF9', 'score': 11.21}, {'connected_gene': 'PSME2', 'score': 10.83}, {'connected_gene': 'RNF31', 'score': 10.83}, {'connected_gene': 'TM9SF1', 'score': 10.34}, {'connected_gene': 'ENSG00000254692', 'score': 9.96}, {'connected_gene': 'CHMP4A', 'score': 9.96}, {'connected_gene': 'NRL', 'score': 0.44}, {'connected_gene': 'DCAF11', 'score': 0.44}, {'connected_gene': 'PCK2', 'score': 0.39}]
chr14	GH14I024109	24109941	24111410	0.9	[{'connected_gene': 'EMC9', 'score': 4.43}, {'connected_gene': 'NRL', 'score': 0.77}, {'connected_gene': 'DCAF11', 'score': 0.77}, {'connected_gene': 'PCK2', 'score': 0.37}]
chr14	GH14I024139	24139155	24142836	2.1	[{'connected_gene': 'EMC9', 'score': 590.68}, {'connected_gene': 'ENSG00000259321', 'score': 550.77}, {'connected_gene': 'NFATC4', 'score': 40.13}, {'connected_gene': 'NGDN', 'score': 24.35}, {'connected_gene': 'HOMEZ', 'score': 22.0}, {'connected_gene': 'IPO4', 'score': 21.7}, {'connected_gene': 'THTPA', 'score': 19.2}, {'connected_gene': 'TSSK4', 'score': 15.68}, {'connected_gene': 'PABPN1', 'score': 13.53}, {'connected_gene': 'MDP1', 'score': 12.71}, {'connected_gene': 'NOP9', 'score': 12.11}, {'connected_gene': 'SDR39U1', 'score': 11.8}, {'connected_gene': 'RNF31', 'score': 11.43}, {'connected_gene': 'LOC102724814', 'score': 10.62}, {'connected_gene': 'BCL2L2-PABPN1', 'score': 10.01}, {'connected_gene': 'EFS', 'score': 9.91}, {'connected_gene': 'RIPK3', 'score': 5.95}]
chr14	GH14I024113	24113283	24116397	2.13	[{'connected_gene': 'NRL', 'score': 550.77}, {'connected_gene': 'DCAF11', 'score': 550.77}, {'connected_gene': 'RNF31', 'score': 32.74}, {'connected_gene': 'NFATC4', 'score': 32.08}, {'connected_gene': 'IPO4', 'score': 31.32}, {'connected_gene': 'HOMEZ', 'score': 30.09}, {'connected_gene': 'RNA5SP383', 'score': 27.44}, {'connected_gene': 'TSSK4', 'score': 24.61}, {'connected_gene': 'TM9SF1', 'score': 24.46}, {'connected_gene': 'KHNYN', 'score': 24.4}, {'connected_gene': 'NGDN', 'score': 24.35}, {'connected_gene': 'TINF2', 'score': 23.38}, {'connected_gene': 'LOC102724814', 'score': 21.0}, {'connected_gene': 'THTPA', 'score': 19.2}, {'connected_gene': 'EMC9', 'score': 18.08}, {'connected_gene': 'NOP9', 'score': 12.09}, {'connected_gene': 'PSME1', 'score': 11.86}, {'connected_gene': 'PCK2', 'score': 11.13}, {'connected_gene': 'PSME2', 'score': 11.04}, {'connected_gene': 'IRF9', 'score': 10.43}, {'connected_gene': 'EFS', 'score': 9.9}, {'connected_gene': 'CIDEB', 'score': 9.79}]
chr14	GH14I024838	24838039	24841008	1.12	[{'connected_gene': 'STXBP6', 'score': 14.93}, {'connected_gene': 'ENSG00000259321', 'score': 10.75}, {'connected_gene': 'RNA5SP383', 'score': 9.97}, {'connected_gene': 'EMC9', 'score': 4.62}, {'connected_gene': 'PIR50915', 'score': 0.14}]
chr14	GH14I024178	24178465	24182741	0.98	[{'connected_gene': 'TSSK4', 'score': 5.41}, {'connected_gene': 'REC8', 'score': 5.31}, {'connected_gene': 'EMC9', 'score': 5.29}, {'connected_gene': 'PIR48221', 'score': 0.77}, {'connected_gene': 'IPO4', 'score': 0.44}, {'connected_gene': 'ENSG00000259522', 'score': 0.44}]
chr14	GH14I024130	24130185	24133367	1.54	[{'connected_gene': 'FITM1', 'score': 550.77}, {'connected_gene': 'EMC9', 'score': 28.9}, {'connected_gene': 'PSME1', 'score': 0.77}, {'connected_gene': 'ENSG00000259371', 'score': 0.39}]
chr14	GH14I024145	24143133	24143166	0.2	[{'connected_gene': 'MIR7703', 'score': 550.77}, {'connected_gene': 'EMC9', 'score': 550.77}, {'connected_gene': 'GC14M024146', 'score': 550.77}]
chr14	GH14I024123	24123152	24124568	0.6	[{'connected_gene': 'PIR38746', 'score': 550.77}, {'connected_gene': 'PIR61331', 'score': 550.77}, {'connected_gene': 'REC8', 'score': 11.54}, {'connected_gene': 'PSME2', 'score': 11.32}, {'connected_gene': 'RNF31', 'score': 11.32}, {'connected_gene': 'PCK2', 'score': 10.93}, {'connected_gene': 'IPO4', 'score': 10.68}, {'connected_gene': 'TM9SF1', 'score': 10.67}, {'connected_gene': 'TSSK4', 'score': 9.67}, {'connected_gene': 'EMC9', 'score': 6.49}, {'connected_gene': 'ENSG00000259371', 'score': 0.77}, {'connected_gene': 'DCAF11', 'score': 0.44}]