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
ENST00000301738	[[2732475, 2732801], [2745935, 2746044], [2747906, 2747998], [2749821, 2749917], [2752353, 2752479], [2757298, 2759031]]	[[2732549, 2732801], [2745935, 2746044], [2747906, 2747998], [2749821, 2749917], [2752353, 2752479], [2757298, 2757328]]
ENST00000564195	[[2732540, 2732801], [2745935, 2746044], [2749821, 2749917], [2752353, 2752479], [2757298, 2757480]]	[[2732549, 2732801], [2745935, 2746044], [2749821, 2749917], [2752353, 2752479], [2757298, 2757456]]
ENST00000570005	[[2732528, 2732801], [2745935, 2746044], [2747176, 2747280]]	None
ENST00000564246	[[2732533, 2732801], [2745935, 2746044], [2747906, 2747998], [2749157, 2749303]]	None
ENST00000569689	[[2735614, 2736302], [2745935, 2746033]]	None
NM_018992	[[2732494, 2732801], [2745935, 2746044], [2747906, 2747998], [2749821, 2749917], [2752353, 2752479], [2757298, 2759031]]	[[2732549, 2732801], [2745935, 2746044], [2747906, 2747998], [2749821, 2749917], [2752353, 2752479], [2757298, 2757328]]

Promoter

Chrom	Start	End	Description
chr16	2732516	2732534	CAGE_peak_1_at_KCTD5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I002427	2427867	2430629	2.28	[{'connected_gene': 'CCNF', 'score': 557.47}, {'connected_gene': 'TBL3', 'score': 17.35}, {'connected_gene': 'AMDHD2', 'score': 12.74}, {'connected_gene': 'ZNF200', 'score': 12.7}, {'connected_gene': 'CRAMP1', 'score': 12.16}, {'connected_gene': 'ENSG00000261207', 'score': 11.42}, {'connected_gene': 'ENSG00000260051', 'score': 9.71}, {'connected_gene': 'ZNF598', 'score': 9.7}, {'connected_gene': 'LOC652276', 'score': 5.36}, {'connected_gene': 'KCTD5', 'score': 4.23}, {'connected_gene': 'DNASE1L2', 'score': 3.81}, {'connected_gene': 'ELOB', 'score': 3.1}, {'connected_gene': 'MLST8', 'score': 2.73}, {'connected_gene': 'RPS2', 'score': 2.54}, {'connected_gene': 'FLYWCH2', 'score': 2.2}, {'connected_gene': 'GFER', 'score': 2.0}, {'connected_gene': 'TRAF7', 'score': 1.7}, {'connected_gene': 'TSC2', 'score': 1.61}, {'connected_gene': 'RNF151', 'score': 1.3}, {'connected_gene': 'NTHL1', 'score': 1.2}, {'connected_gene': 'ECI1', 'score': 1.19}, {'connected_gene': 'GC16P002427', 'score': 0.77}]
chr16	GH16I002696	2696220	2696878	0.2	[{'connected_gene': 'PRSS27', 'score': 12.61}, {'connected_gene': 'SRRM2-AS1', 'score': 11.56}, {'connected_gene': 'KCTD5', 'score': 10.06}, {'connected_gene': 'KREMEN2', 'score': 10.01}, {'connected_gene': 'PAQR4', 'score': 10.01}, {'connected_gene': 'ABCA17P', 'score': 9.25}, {'connected_gene': 'ABCA3', 'score': 9.25}, {'connected_gene': 'ENSG00000269937', 'score': 6.78}, {'connected_gene': 'GC16P002972', 'score': 0.77}, {'connected_gene': 'GC16P002983', 'score': 0.77}, {'connected_gene': 'PIR57562', 'score': 0.77}, {'connected_gene': 'GC16P003025', 'score': 0.39}]
chr16	GH16I003455	3455633	3461870	2.1	[{'connected_gene': 'NAA60', 'score': 561.0}, {'connected_gene': 'ENSG00000263212', 'score': 550.77}, {'connected_gene': 'CREBBP', 'score': 36.86}, {'connected_gene': 'SRRM2', 'score': 29.39}, {'connected_gene': 'LOC105371055', 'score': 24.29}, {'connected_gene': 'ZNF263', 'score': 21.82}, {'connected_gene': 'ZNF597', 'score': 21.19}, {'connected_gene': 'ZNF200', 'score': 12.75}, {'connected_gene': 'AMDHD2', 'score': 12.61}, {'connected_gene': 'THOC6', 'score': 12.48}, {'connected_gene': 'ENSG00000261938', 'score': 12.0}, {'connected_gene': 'KCTD5', 'score': 10.66}, {'connected_gene': 'ERVK13-1', 'score': 9.67}, {'connected_gene': 'ENSG00000262621', 'score': 7.78}, {'connected_gene': 'TRAP1', 'score': 7.42}, {'connected_gene': 'CLUAP1', 'score': 5.23}, {'connected_gene': 'GC16M003477', 'score': 0.37}]
chr16	GH16I002679	2679501	2683601	2.32	[{'connected_gene': 'KCTD5', 'score': 550.77}, {'connected_gene': 'ENSG00000279901', 'score': 550.77}, {'connected_gene': 'PIR43814', 'score': 550.77}, {'connected_gene': 'PIR38297', 'score': 550.77}, {'connected_gene': 'PIR61225', 'score': 550.77}, {'connected_gene': 'ENSG00000261613', 'score': 45.18}, {'connected_gene': 'TBL3', 'score': 36.52}, {'connected_gene': 'ZNF597', 'score': 25.24}, {'connected_gene': 'E4F1', 'score': 21.66}, {'connected_gene': 'ENSG00000261207', 'score': 20.44}, {'connected_gene': 'ZNF174', 'score': 19.89}, {'connected_gene': 'ZNF263', 'score': 17.37}, {'connected_gene': 'ENSG00000269937', 'score': 14.91}, {'connected_gene': 'ZNF200', 'score': 12.7}, {'connected_gene': 'AMDHD2', 'score': 12.68}, {'connected_gene': 'ZNF75A', 'score': 10.5}, {'connected_gene': 'ZSCAN32', 'score': 10.05}, {'connected_gene': 'RPS2', 'score': 10.02}, {'connected_gene': 'SRRM2', 'score': 9.96}, {'connected_gene': 'ENSG00000261938', 'score': 9.76}, {'connected_gene': 'ZNF598', 'score': 9.68}, {'connected_gene': 'ERVK13-1', 'score': 8.78}, {'connected_gene': 'GC16P003029', 'score': 0.39}]
chr16	GH16I002701	2701543	2705376	0.38	[{'connected_gene': 'KCTD5', 'score': 16.68}, {'connected_gene': 'SRRM2-AS1', 'score': 11.82}, {'connected_gene': 'ENSG00000269937', 'score': 6.95}, {'connected_gene': 'GC16P003025', 'score': 0.77}, {'connected_gene': 'GC16P002972', 'score': 0.44}, {'connected_gene': 'PIR57562', 'score': 0.44}, {'connected_gene': 'GC16P002983', 'score': 0.44}]
chr16	GH16I002140	2140401	2141081	1.11	[{'connected_gene': 'RAB26', 'score': 550.77}, {'connected_gene': 'TBL3', 'score': 11.59}, {'connected_gene': 'KCTD5', 'score': 10.66}, {'connected_gene': 'ENSG00000261207', 'score': 10.44}, {'connected_gene': 'MLST8', 'score': 8.53}, {'connected_gene': 'MIR3180-5', 'score': 0.77}]
chr16	GH16I003262	3262483	3265332	1.81	[{'connected_gene': 'ZNF263', 'score': 570.41}, {'connected_gene': 'LINC00921', 'score': 550.77}, {'connected_gene': 'ZNF75A', 'score': 45.26}, {'connected_gene': 'CREBBP', 'score': 28.17}, {'connected_gene': 'ZNF597', 'score': 25.33}, {'connected_gene': 'ZNF205', 'score': 24.87}, {'connected_gene': 'ENSG00000261938', 'score': 24.57}, {'connected_gene': 'AMDHD2', 'score': 23.22}, {'connected_gene': 'ZNF213-AS1', 'score': 21.86}, {'connected_gene': 'ERVK13-1', 'score': 20.3}, {'connected_gene': 'SRRM2', 'score': 19.75}, {'connected_gene': 'LOC105371055', 'score': 16.49}, {'connected_gene': 'THOC6', 'score': 15.61}, {'connected_gene': 'RNPS1', 'score': 14.09}, {'connected_gene': 'ZNF200', 'score': 12.99}, {'connected_gene': 'LOC106660606', 'score': 12.17}, {'connected_gene': 'PDPK2P', 'score': 12.01}, {'connected_gene': 'MTCO1P28', 'score': 11.98}, {'connected_gene': 'PDPK1', 'score': 11.24}, {'connected_gene': 'KCTD5', 'score': 10.66}, {'connected_gene': 'LOC102724927', 'score': 10.6}, {'connected_gene': 'LOC652276', 'score': 10.55}, {'connected_gene': 'ENSG00000279330', 'score': 0.44}]
chr16	GH16I002699	2699540	2699689	0.51	[{'connected_gene': 'SRRM2-AS1', 'score': 11.81}, {'connected_gene': 'GC16P003025', 'score': 0.44}, {'connected_gene': 'GC16P002972', 'score': 0.44}, {'connected_gene': 'PIR57562', 'score': 0.44}, {'connected_gene': 'GC16P002983', 'score': 0.44}, {'connected_gene': 'KCTD5', 'score': 0.37}]
chr16	GH16I002689	2689889	2693843	0.99	[{'connected_gene': 'GC16M002686', 'score': 550.77}, {'connected_gene': 'KCTD5', 'score': 20.14}, {'connected_gene': 'PRSS27', 'score': 13.21}, {'connected_gene': 'SRRM2-AS1', 'score': 11.57}, {'connected_gene': 'SRRM2', 'score': 11.53}, {'connected_gene': 'PAQR4', 'score': 10.04}, {'connected_gene': 'KREMEN2', 'score': 10.04}, {'connected_gene': 'ABCA17P', 'score': 9.3}, {'connected_gene': 'ABCA3', 'score': 9.3}, {'connected_gene': 'ENSG00000269937', 'score': 8.77}, {'connected_gene': 'GC16P002972', 'score': 0.77}, {'connected_gene': 'GC16P002983', 'score': 0.77}, {'connected_gene': 'PIR57562', 'score': 0.77}]
chr16	GH16I002686	2686749	2688161	1.23	[{'connected_gene': 'ENSG00000261613', 'score': 25.78}, {'connected_gene': 'KCTD5', 'score': 5.9}, {'connected_gene': 'ERVK13-1', 'score': 4.85}, {'connected_gene': 'PIR38297', 'score': 0.77}, {'connected_gene': 'GC16M002686', 'score': 0.77}]
chr16	GH16I002685	2685609	2686648	0.2	[{'connected_gene': 'PIR38297', 'score': 0.77}, {'connected_gene': 'KCTD5', 'score': 0.77}, {'connected_gene': 'GC16M002686', 'score': 0.77}]
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}]