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
ENST00000378079	[[37092684, 37093543], [37094825, 37094985], [37099030, 37099173], [37099842, 37099989], [37101212, 37101389], [37107833, 37107942], [37111108, 37111186], [37113429, 37113506], [37118129, 37118300], [37119097, 37119304], [37123481, 37123655]]	[[37093427, 37093543], [37094825, 37094985], [37099030, 37099173], [37099842, 37099989], [37101212, 37101389], [37107833, 37107942], [37111108, 37111186], [37113429, 37113506], [37118129, 37118300], [37119097, 37119278]]
NM_001008777	[[37092684, 37093543], [37094825, 37094985], [37099030, 37099173], [37099842, 37099989], [37101212, 37101389], [37107833, 37107942], [37111108, 37111186], [37113429, 37113506], [37118129, 37118300], [37119097, 37119304], [37123481, 37123655]]	[[37093427, 37093543], [37094825, 37094985], [37099030, 37099173], [37099842, 37099989], [37101212, 37101389], [37107833, 37107942], [37111108, 37111186], [37113429, 37113506], [37118129, 37118300], [37119097, 37119278]]

Promoter

Chrom	Start	End	Description
chr17	37123646	37123660	CAGE_peak_2_at_FBXO47_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I038850	38850879	38856117	2.36	[{'connected_gene': 'SNORA21', 'score': 590.58}, {'connected_gene': 'RPL23', 'score': 561.69}, {'connected_gene': 'RPS20P35', 'score': 556.59}, {'connected_gene': 'PIR54049', 'score': 550.77}, {'connected_gene': 'GC17M038862', 'score': 550.77}, {'connected_gene': 'GC17M038850', 'score': 550.77}, {'connected_gene': 'GC17M038858', 'score': 550.77}, {'connected_gene': 'GC17M038875', 'score': 550.77}, {'connected_gene': 'PIR38457', 'score': 550.77}, {'connected_gene': 'GC17M038872', 'score': 550.77}, {'connected_gene': 'SNORA21B', 'score': 550.77}, {'connected_gene': 'GC17P038858', 'score': 550.77}, {'connected_gene': 'CDK12', 'score': 44.29}, {'connected_gene': 'MED1', 'score': 26.17}, {'connected_gene': 'LOC105371762', 'score': 24.52}, {'connected_gene': 'RPL19', 'score': 18.65}, {'connected_gene': 'STARD3', 'score': 12.57}, {'connected_gene': 'PCGF2', 'score': 11.6}, {'connected_gene': 'LASP1', 'score': 5.58}, {'connected_gene': 'PSMB3', 'score': 5.06}, {'connected_gene': 'C17orf98', 'score': 5.01}, {'connected_gene': 'PIP4K2B', 'score': 4.92}, {'connected_gene': 'CWC25', 'score': 4.74}, {'connected_gene': 'FBXO47', 'score': 2.78}]
chr17	GH17I038982	38980568	38980717	0.52	[{'connected_gene': 'PLXDC1', 'score': 11.89}, {'connected_gene': 'LRRC37A11P', 'score': 11.42}, {'connected_gene': 'PSMB3', 'score': 10.37}, {'connected_gene': 'GC17P039017', 'score': 0.44}, {'connected_gene': 'FBXO47', 'score': 0.39}]
chr17	GH17I038981	38981401	38981600	0.2	[{'connected_gene': 'PLXDC1', 'score': 11.89}, {'connected_gene': 'LRRC37A11P', 'score': 11.42}, {'connected_gene': 'PSMB3', 'score': 10.37}, {'connected_gene': 'GC17P039017', 'score': 0.44}, {'connected_gene': 'FBXO47', 'score': 0.39}]
chr17	GH17I038983	38983000	38983600	1.01	[{'connected_gene': 'PLXDC1', 'score': 11.89}, {'connected_gene': 'LRRC37A11P', 'score': 11.43}, {'connected_gene': 'PSMB3', 'score': 10.37}, {'connected_gene': 'GC17P039017', 'score': 0.44}, {'connected_gene': 'FBXO47', 'score': 0.37}]
chr17	GH17I039001	39001511	39003831	1.41	[{'connected_gene': 'CDK12', 'score': 47.44}, {'connected_gene': 'MED1', 'score': 27.31}, {'connected_gene': 'LOC105371762', 'score': 25.41}, {'connected_gene': 'SNORA21', 'score': 21.45}, {'connected_gene': 'STARD3', 'score': 9.9}, {'connected_gene': 'LRRC37A11P', 'score': 6.83}, {'connected_gene': 'CWC25', 'score': 3.82}, {'connected_gene': 'FBXO47', 'score': 3.41}, {'connected_gene': 'FBXL20', 'score': 1.27}, {'connected_gene': 'ENSG00000265428', 'score': 0.44}, {'connected_gene': 'ENSG00000266588', 'score': 0.39}]
chr17	GH17I039018	39018002	39019215	0.89	[{'connected_gene': 'FBXO47', 'score': 11.74}, {'connected_gene': 'ARL5C', 'score': 10.52}, {'connected_gene': 'MED1', 'score': 10.49}, {'connected_gene': 'CDK12', 'score': 10.44}, {'connected_gene': 'CACNB1', 'score': 10.05}, {'connected_gene': 'RPL19', 'score': 10.04}, {'connected_gene': 'STARD3', 'score': 9.69}, {'connected_gene': 'GC17M039013', 'score': 0.77}, {'connected_gene': 'ENSG00000277426', 'score': 0.77}, {'connected_gene': 'LOC105371767', 'score': 0.44}]
chr17	GH17I038976	38975608	38975757	0.46	[{'connected_gene': 'FBXO47', 'score': 0.44}, {'connected_gene': 'GC17P039017', 'score': 0.39}]
chr17	GH17I038975	38975908	38976545	0.79	[{'connected_gene': 'FBXO47', 'score': 0.44}, {'connected_gene': 'GC17P039017', 'score': 0.39}]
chr17	GH17I038966	38966835	38968368	1.65	[{'connected_gene': 'FBXO47', 'score': 550.77}, {'connected_gene': 'GC17P039017', 'score': 0.34}]
chr17	GH17I038867	38867108	38876298	2.63	[{'connected_gene': 'LASP1', 'score': 560.32}, {'connected_gene': 'MED1', 'score': 84.45}, {'connected_gene': 'CDK12', 'score': 65.03}, {'connected_gene': 'SNORA21', 'score': 31.37}, {'connected_gene': 'LOC105371762', 'score': 29.1}, {'connected_gene': 'RPL23', 'score': 18.84}, {'connected_gene': 'CWC25', 'score': 16.56}, {'connected_gene': 'PSMB3', 'score': 15.96}, {'connected_gene': 'SNORA21B', 'score': 12.81}, {'connected_gene': 'C17orf98', 'score': 12.62}, {'connected_gene': 'STARD3', 'score': 10.5}, {'connected_gene': 'RPL19', 'score': 10.24}, {'connected_gene': 'RPS20P35', 'score': 4.97}, {'connected_gene': 'TCAP', 'score': 4.14}, {'connected_gene': 'FBXO47', 'score': 1.65}, {'connected_gene': 'TRC-GCA2-2', 'score': 0.77}, {'connected_gene': 'PIR59292', 'score': 0.77}, {'connected_gene': 'TRC-GCA4-1', 'score': 0.77}, {'connected_gene': 'GC17M038893', 'score': 0.34}]
chr17	GH17I038740	38740736	38744374	1.43	[{'connected_gene': 'C17orf98', 'score': 36.14}, {'connected_gene': 'PCGF2', 'score': 23.16}, {'connected_gene': 'MLLT6', 'score': 15.9}, {'connected_gene': 'FBXO47', 'score': 11.18}, {'connected_gene': 'PIP4K2B', 'score': 10.55}, {'connected_gene': 'SOCS7', 'score': 5.51}, {'connected_gene': 'PSMB3', 'score': 5.45}, {'connected_gene': 'CISD3', 'score': 5.34}, {'connected_gene': 'LOC100287808', 'score': 0.44}, {'connected_gene': 'GC17M038732', 'score': 0.39}, {'connected_gene': 'RNA5SP440', 'score': 0.39}]
chr17	GH17I038841	38840162	38840457	0.94	[{'connected_gene': 'C17orf98', 'score': 584.66}, {'connected_gene': 'FBXO47', 'score': 13.67}, {'connected_gene': 'SOCS7', 'score': 5.71}, {'connected_gene': 'GC17M038833', 'score': 0.44}]
chr17	GH17I038980	38980948	38981097	0.38	[{'connected_gene': 'LRRC37A11P', 'score': 15.99}, {'connected_gene': 'PLXDC1', 'score': 11.89}, {'connected_gene': 'PSMB3', 'score': 10.37}, {'connected_gene': 'GC17P039017', 'score': 0.44}, {'connected_gene': 'FBXO47', 'score': 0.39}]
chr17	GH17I038923	38923801	38924400	1.04	[{'connected_gene': 'LINC00672', 'score': 550.77}, {'connected_gene': 'MED1', 'score': 86.82}, {'connected_gene': 'CDK12', 'score': 70.91}, {'connected_gene': 'SNORA21', 'score': 69.67}, {'connected_gene': 'LOC105371762', 'score': 55.88}, {'connected_gene': 'RPL23', 'score': 25.66}, {'connected_gene': 'FBXO47', 'score': 11.76}, {'connected_gene': 'C17orf98', 'score': 11.45}, {'connected_gene': 'PIP4K2B', 'score': 10.69}, {'connected_gene': 'CWC25', 'score': 10.6}, {'connected_gene': 'RPL19', 'score': 10.5}, {'connected_gene': 'STARD3', 'score': 9.89}, {'connected_gene': 'ENSG00000265784', 'score': 0.77}]
chr17	GH17I038925	38925056	38927117	1.23	[{'connected_gene': 'LINC00672', 'score': 550.77}, {'connected_gene': 'ENSG00000266588', 'score': 25.94}, {'connected_gene': 'FBXO47', 'score': 11.76}, {'connected_gene': 'C17orf98', 'score': 11.45}, {'connected_gene': 'PIP4K2B', 'score': 10.69}, {'connected_gene': 'CWC25', 'score': 10.59}, {'connected_gene': 'GC17M038934', 'score': 0.39}]
chr17	GH17I038920	38920653	38923797	1.23	[{'connected_gene': 'ENSG00000265784', 'score': 550.77}, {'connected_gene': 'MED1', 'score': 86.82}, {'connected_gene': 'CDK12', 'score': 70.91}, {'connected_gene': 'SNORA21', 'score': 69.68}, {'connected_gene': 'LOC105371762', 'score': 55.88}, {'connected_gene': 'RPL23', 'score': 25.67}, {'connected_gene': 'FBXO47', 'score': 11.75}, {'connected_gene': 'C17orf98', 'score': 11.45}, {'connected_gene': 'CWC25', 'score': 10.86}, {'connected_gene': 'PIP4K2B', 'score': 10.69}, {'connected_gene': 'RPL19', 'score': 10.5}, {'connected_gene': 'STARD3', 'score': 9.89}, {'connected_gene': 'LINC00672', 'score': 5.06}, {'connected_gene': 'LASP1', 'score': 0.23}]
chr17	GH17I039013	39013954	39017599	1.17	[{'connected_gene': 'GC17M039013', 'score': 550.77}, {'connected_gene': 'MED1', 'score': 29.54}, {'connected_gene': 'CDK12', 'score': 28.94}, {'connected_gene': 'SNORA21', 'score': 22.7}, {'connected_gene': 'LOC105371762', 'score': 21.02}, {'connected_gene': 'FBXO47', 'score': 11.37}, {'connected_gene': 'RPL23', 'score': 11.2}, {'connected_gene': 'ARL5C', 'score': 10.51}, {'connected_gene': 'STARD3', 'score': 10.5}, {'connected_gene': 'RPL19', 'score': 10.25}, {'connected_gene': 'CACNB1', 'score': 10.25}, {'connected_gene': 'CWC25', 'score': 9.86}, {'connected_gene': 'ENSG00000266588', 'score': 5.4}, {'connected_gene': 'ENSG00000277426', 'score': 0.44}, {'connected_gene': 'LOC105371767', 'score': 0.39}]
chr17	GH17I038959	38959823	38960325	0.2	[{'connected_gene': 'PIR58309', 'score': 550.77}, {'connected_gene': 'GC17M038928', 'score': 0.44}, {'connected_gene': 'FBXO47', 'score': 0.44}]
chr17	GH17I038958	38958201	38959414	0.4	[{'connected_gene': 'PIR58309', 'score': 0.77}, {'connected_gene': 'GC17M038928', 'score': 0.44}, {'connected_gene': 'FBXO47', 'score': 0.44}]