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
ENST00000294008	[[3631181, 3632694], [3633097, 3633511], [3634769, 3634872], [3639002, 3641311], [3642699, 3642866], [3644453, 3644600], [3645605, 3645694], [3646153, 3646394], [3647379, 3647696], [3647797, 3648000], [3650979, 3651192], [3652118, 3652308], [3656474, 3656699], [3658430, 3659567], [3661560, 3661599]]	[[3632342, 3632694], [3633097, 3633511], [3634769, 3634872], [3639002, 3641311], [3642699, 3642866], [3644453, 3644600], [3645605, 3645694], [3646153, 3646394], [3647379, 3647696], [3647797, 3648000], [3650979, 3651192], [3652118, 3652308], [3656474, 3656699], [3658430, 3658965]]
ENST00000466154	[[3645611, 3645694], [3646153, 3646394], [3647379, 3647696], [3647797, 3648000], [3650979, 3652308], [3656474, 3656699], [3658430, 3659260]]	None
ENST00000486524	[[3650621, 3652308], [3656474, 3656699], [3658430, 3659567], [3661560, 3661586]]	None
NM_032444	[[3631181, 3632694], [3633097, 3633511], [3634769, 3634872], [3639002, 3641311], [3642699, 3642866], [3644453, 3644600], [3645605, 3645694], [3646153, 3646394], [3647379, 3647696], [3647797, 3648000], [3650979, 3651192], [3652118, 3652308], [3656474, 3656699], [3658430, 3659567], [3661560, 3661607]]	[[3632342, 3632694], [3633097, 3633511], [3634769, 3634872], [3639002, 3641311], [3642699, 3642866], [3644453, 3644600], [3645605, 3645694], [3646153, 3646394], [3647379, 3647696], [3647797, 3648000], [3650979, 3651192], [3652118, 3652308], [3656474, 3656699], [3658430, 3658965]]

Promoter

Chrom	Start	End	Description
chr16	3661578	3661618	CAGE_peak_1_at_SLX4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I003590	3590601	3591200	0.46	[{'connected_gene': 'SLX4', 'score': 11.96}, {'connected_gene': 'CLUAP1', 'score': 11.14}, {'connected_gene': 'TRAP1', 'score': 10.12}, {'connected_gene': 'DNASE1', 'score': 9.26}, {'connected_gene': 'GC16P003593', 'score': 0.77}, {'connected_gene': 'GC16P003582', 'score': 0.44}]
chr16	GH16I003589	3589001	3590200	0.69	[{'connected_gene': 'SLX4', 'score': 12.22}, {'connected_gene': 'NLRC3', 'score': 10.99}, {'connected_gene': 'DNASE1', 'score': 8.29}, {'connected_gene': 'GC16P003593', 'score': 0.77}, {'connected_gene': 'GC16P003582', 'score': 0.44}]
chr16	GH16I003295	3295159	3295235	0.26	[{'connected_gene': 'C16orf90', 'score': 45.38}, {'connected_gene': 'ZNF263', 'score': 12.22}, {'connected_gene': 'ZNF200', 'score': 11.63}, {'connected_gene': 'MEFV', 'score': 11.53}, {'connected_gene': 'OR2C1', 'score': 10.98}, {'connected_gene': 'ZSCAN32', 'score': 10.86}, {'connected_gene': 'ZNF174', 'score': 10.86}, {'connected_gene': 'SLX4', 'score': 4.11}, {'connected_gene': 'ENSG00000279031', 'score': 0.77}, {'connected_gene': 'GC16P003498', 'score': 0.77}]
chr16	GH16I003296	3295455	3295619	0.22	[{'connected_gene': 'OR2C1', 'score': 15.67}, {'connected_gene': 'ZNF263', 'score': 12.22}, {'connected_gene': 'ZNF200', 'score': 11.63}, {'connected_gene': 'MEFV', 'score': 11.53}, {'connected_gene': 'ZSCAN32', 'score': 10.86}, {'connected_gene': 'ZNF174', 'score': 10.86}, {'connected_gene': 'C16orf90', 'score': 9.47}, {'connected_gene': 'OR1F1', 'score': 7.01}, {'connected_gene': 'SLX4', 'score': 2.83}, {'connected_gene': 'CLUAP1', 'score': 1.32}, {'connected_gene': 'ENSG00000279031', 'score': 0.77}, {'connected_gene': 'GC16P003498', 'score': 0.77}]
chr16	GH16I003535	3535267	3537795	0.43	[{'connected_gene': 'CLUAP1', 'score': 16.41}, {'connected_gene': 'NLRC3', 'score': 11.66}, {'connected_gene': 'SLX4', 'score': 10.63}, {'connected_gene': 'TRAP1', 'score': 10.36}, {'connected_gene': 'CREBBP', 'score': 9.75}, {'connected_gene': 'DNASE1', 'score': 7.51}, {'connected_gene': 'ENSG00000278942', 'score': 0.77}, {'connected_gene': 'LOC101929732', 'score': 0.44}]
chr16	GH16I003575	3575154	3581326	1.79	[{'connected_gene': 'NLRC3', 'score': 560.88}, {'connected_gene': 'GC16P003577', 'score': 550.77}, {'connected_gene': 'CLUAP1', 'score': 33.19}, {'connected_gene': 'ENSG00000261938', 'score': 12.35}, {'connected_gene': 'CREBBP', 'score': 11.88}, {'connected_gene': 'SRRM2', 'score': 9.67}, {'connected_gene': 'DNASE1', 'score': 9.14}, {'connected_gene': 'GC16P003575', 'score': 0.77}, {'connected_gene': 'LOC105371060', 'score': 0.39}, {'connected_gene': 'SLX4', 'score': 0.29}]
chr16	GH16I003609	3609609	3613385	2.02	[{'connected_gene': 'DNASE1', 'score': 560.03}, {'connected_gene': 'SLX4', 'score': 550.77}, {'connected_gene': 'CLUAP1', 'score': 28.38}, {'connected_gene': 'NLRC3', 'score': 11.93}, {'connected_gene': 'TRAP1', 'score': 10.48}, {'connected_gene': 'GC16M003603', 'score': 0.77}]
chr16	GH16I003182	3182481	3184460	1.76	[{'connected_gene': 'TRP-TGG3-4', 'score': 550.77}, {'connected_gene': 'ENSG00000262521', 'score': 550.77}, {'connected_gene': 'TRP-AGG2-7', 'score': 550.77}, {'connected_gene': 'ZNF75A', 'score': 40.8}, {'connected_gene': 'ZNF213-AS1', 'score': 39.69}, {'connected_gene': 'RNPS1', 'score': 22.36}, {'connected_gene': 'PDPK2P', 'score': 22.0}, {'connected_gene': 'LOC652276', 'score': 20.73}, {'connected_gene': 'ZSCAN32', 'score': 20.12}, {'connected_gene': 'E4F1', 'score': 19.38}, {'connected_gene': 'ENSG00000261938', 'score': 19.16}, {'connected_gene': 'LOC106660606', 'score': 12.83}, {'connected_gene': 'ENSG00000260095', 'score': 12.25}, {'connected_gene': 'ZNF205', 'score': 11.48}, {'connected_gene': 'PDPK1', 'score': 11.24}, {'connected_gene': 'ZNF597', 'score': 10.94}, {'connected_gene': 'ERVK13-1', 'score': 10.69}, {'connected_gene': 'MLST8', 'score': 10.37}, {'connected_gene': 'SLX4', 'score': 10.05}, {'connected_gene': 'ZNF174', 'score': 9.98}, {'connected_gene': 'MTRNR2L4', 'score': 9.77}, {'connected_gene': 'ZNF213', 'score': 5.34}]
chr16	GH16I003596	3596338	3596723	0.9	[{'connected_gene': 'GC16P003596', 'score': 550.77}, {'connected_gene': 'CLUAP1', 'score': 11.13}, {'connected_gene': 'TRAP1', 'score': 10.12}, {'connected_gene': 'GC16P003593', 'score': 0.77}, {'connected_gene': 'SLX4', 'score': 0.37}]
chr16	GH16I003595	3595720	3595869	0.2	[{'connected_gene': 'GC16P003596', 'score': 550.77}, {'connected_gene': 'CLUAP1', 'score': 11.13}, {'connected_gene': 'TRAP1', 'score': 10.12}, {'connected_gene': 'GC16P003593', 'score': 0.77}, {'connected_gene': 'SLX4', 'score': 0.37}]
chr16	GH16I003148	3148721	3153649	1.54	[{'connected_gene': 'GC16P003506', 'score': 550.77}, {'connected_gene': 'TRR-CCT3-1', 'score': 550.77}, {'connected_gene': 'TRR-CCG1-3', 'score': 550.77}, {'connected_gene': 'TRP-AGG6-1', 'score': 550.77}, {'connected_gene': 'ZNF205', 'score': 60.14}, {'connected_gene': 'ZNF213-AS1', 'score': 42.26}, {'connected_gene': 'ZNF75A', 'score': 37.63}, {'connected_gene': 'THOC6', 'score': 34.41}, {'connected_gene': 'MTCO1P28', 'score': 32.64}, {'connected_gene': 'E4F1', 'score': 30.76}, {'connected_gene': 'ZNF263', 'score': 28.92}, {'connected_gene': 'AMDHD2', 'score': 26.68}, {'connected_gene': 'ZNF597', 'score': 26.58}, {'connected_gene': 'CREBBP', 'score': 25.06}, {'connected_gene': 'SRRM2', 'score': 24.65}, {'connected_gene': 'RNPS1', 'score': 22.36}, {'connected_gene': 'PDPK2P', 'score': 22.01}, {'connected_gene': 'ENSG00000261938', 'score': 21.57}, {'connected_gene': 'LOC652276', 'score': 20.73}, {'connected_gene': 'CLUAP1', 'score': 20.04}, {'connected_gene': 'LOC105371050', 'score': 19.69}, {'connected_gene': 'SNORD60', 'score': 19.14}, {'connected_gene': 'LOC101929566', 'score': 13.35}, {'connected_gene': 'TRAF7', 'score': 13.05}, {'connected_gene': 'LOC106660606', 'score': 12.83}, {'connected_gene': 'ENSG00000260095', 'score': 12.25}, {'connected_gene': 'LOC105371055', 'score': 12.03}, {'connected_gene': 'MMP25', 'score': 11.37}, {'connected_gene': 'BICDL2', 'score': 11.37}, {'connected_gene': 'HCFC1R1', 'score': 11.36}, {'connected_gene': 'LOC100128770', 'score': 11.36}, {'connected_gene': 'CLDN6', 'score': 11.35}, {'connected_gene': 'TIGD7', 'score': 11.28}, {'connected_gene': 'PDPK1', 'score': 11.24}, {'connected_gene': 'ZNF200', 'score': 10.85}, {'connected_gene': 'KCTD5', 'score': 10.68}, {'connected_gene': 'MLST8', 'score': 10.37}, {'connected_gene': 'ZSCAN32', 'score': 10.32}, {'connected_gene': 'SLX4', 'score': 10.06}, {'connected_gene': 'ZNF174', 'score': 9.97}, {'connected_gene': 'MTRNR2L4', 'score': 9.75}, {'connected_gene': 'ZNF213', 'score': 6.75}, {'connected_gene': 'CASP16P', 'score': 0.44}]
chr16	GH16I003156	3156900	3160687	2.07	[{'connected_gene': 'GC16M003157', 'score': 550.77}, {'connected_gene': 'TRK-CTT3-1', 'score': 550.77}, {'connected_gene': 'TRP-TGG3-3', 'score': 550.77}, {'connected_gene': 'ZNF75A', 'score': 54.9}, {'connected_gene': 'ZNF213-AS1', 'score': 51.47}, {'connected_gene': 'ZNF205', 'score': 44.76}, {'connected_gene': 'E4F1', 'score': 32.34}, {'connected_gene': 'RNPS1', 'score': 22.36}, {'connected_gene': 'PDPK2P', 'score': 22.01}, {'connected_gene': 'LOC652276', 'score': 20.73}, {'connected_gene': 'MTCO1P28', 'score': 20.47}, {'connected_gene': 'ZNF174', 'score': 19.35}, {'connected_gene': 'TIGD7', 'score': 18.59}, {'connected_gene': 'ZSCAN32', 'score': 18.51}, {'connected_gene': 'CLUAP1', 'score': 13.2}, {'connected_gene': 'LOC106660606', 'score': 12.83}, {'connected_gene': 'ERVK13-1', 'score': 12.7}, {'connected_gene': 'ENSG00000260095', 'score': 12.25}, {'connected_gene': 'PDPK1', 'score': 11.24}, {'connected_gene': 'ENSG00000261938', 'score': 10.53}, {'connected_gene': 'FLYWCH1', 'score': 10.42}, {'connected_gene': 'MLST8', 'score': 10.37}, {'connected_gene': 'MTND1P8', 'score': 10.13}, {'connected_gene': 'SLX4', 'score': 10.06}, {'connected_gene': 'MTRNR2L4', 'score': 9.75}, {'connected_gene': 'ZNF213', 'score': 7.57}, {'connected_gene': 'ZNF205-AS1', 'score': 5.83}, {'connected_gene': 'NLRC3', 'score': 5.4}, {'connected_gene': 'MEFV', 'score': 3.86}, {'connected_gene': 'ZNF200', 'score': 3.82}, {'connected_gene': 'SRRM2', 'score': 3.21}, {'connected_gene': 'ZNF597', 'score': 1.19}]