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
ENST00000318782	[[3019245, 3019841], [3021157, 3021379], [3021515, 3023490]]	[[3019675, 3019841], [3021157, 3021379], [3021515, 3021949]]
ENST00000293978	[[3019270, 3019841], [3021274, 3021379], [3021515, 3023483]]	[[3019675, 3019841], [3021274, 3021379], [3021515, 3021949]]
ENST00000576565	[[3019341, 3019444], [3021157, 3021379], [3021515, 3022032]]	[[3021192, 3021379], [3021515, 3021949]]
ENST00000572687	[[3019558, 3019841], [3021515, 3023483]]	[[3019675, 3019841], [3021515, 3021949]]
ENST00000574988	[[3020978, 3021379], [3021515, 3021983]]	[[3021192, 3021379], [3021515, 3021949]]
NM_001284512	[[3019245, 3019841], [3021515, 3023490]]	[[3019675, 3019841], [3021515, 3021949]]
NM_001284511	[[3019245, 3019841], [3021274, 3021379], [3021515, 3023490]]	[[3019675, 3019841], [3021274, 3021379], [3021515, 3021949]]
NM_001324118	[[3019245, 3019841], [3021157, 3021379], [3021515, 3021685], [3021886, 3023490]]	[[3019675, 3019841], [3021157, 3021379], [3021515, 3021685], [3021886, 3021949]]
NM_152341	[[3019245, 3019841], [3021157, 3021379], [3021515, 3023490]]	[[3019675, 3019841], [3021157, 3021379], [3021515, 3021949]]
NM_001284513	[[3019342, 3019444], [3021157, 3021379], [3021515, 3023490]]	[[3021192, 3021379], [3021515, 3021949]]

Promoter

Chrom	Start	End	Description
chr16	3019291	3019304	CAGE_peak_2_at_PAQR4_5end
chr16	3019309	3019356	CAGE_peak_1_at_PAQR4_5end
chr16	3019379	3019388	CAGE_peak_3_at_PAQR4_5end
chr16	3019552	3019555	CAGE_peak_4_at_PAQR4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I002926	2926508	2928252	1.11	[{'connected_gene': 'FLYWCH1', 'score': 21.68}, {'connected_gene': 'KREMEN2', 'score': 12.62}, {'connected_gene': 'PAQR4', 'score': 12.61}, {'connected_gene': 'PKMYT1', 'score': 11.48}, {'connected_gene': 'SRRM2-AS1', 'score': 10.6}, {'connected_gene': 'PRSS27', 'score': 10.2}, {'connected_gene': 'ENSG00000255513', 'score': 6.16}, {'connected_gene': 'LOC107984895', 'score': 5.0}, {'connected_gene': 'GC16P002997', 'score': 0.77}, {'connected_gene': 'GC16P003030', 'score': 0.31}]
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	GH16I002919	2919497	2919929	0.92	[{'connected_gene': 'KREMEN2', 'score': 11.46}, {'connected_gene': 'PAQR4', 'score': 11.45}, {'connected_gene': 'PKMYT1', 'score': 11.43}, {'connected_gene': 'PRSS22', 'score': 11.43}, {'connected_gene': 'PRSS27', 'score': 10.31}, {'connected_gene': 'PRSS30P', 'score': 8.53}, {'connected_gene': 'RPS2', 'score': 5.2}, {'connected_gene': 'SRRM2', 'score': 4.51}, {'connected_gene': 'GC16M002924', 'score': 0.77}, {'connected_gene': 'FLYWCH1', 'score': 0.44}]
chr16	GH16I002968	2968045	2971446	2.28	[{'connected_gene': 'PAQR4', 'score': 563.05}, {'connected_gene': 'GC16M002968', 'score': 550.77}, {'connected_gene': 'ENSG00000261938', 'score': 25.16}, {'connected_gene': 'LOC107984895', 'score': 22.42}, {'connected_gene': 'SNHG19', 'score': 19.08}, {'connected_gene': 'ENSG00000270168', 'score': 16.5}, {'connected_gene': 'E4F1', 'score': 16.46}, {'connected_gene': 'TSC2', 'score': 16.45}, {'connected_gene': 'ZNF263', 'score': 15.09}, {'connected_gene': 'ERVK13-1', 'score': 14.38}, {'connected_gene': 'ZNF75A', 'score': 13.31}, {'connected_gene': 'ZNF213-AS1', 'score': 12.95}, {'connected_gene': 'SNORD60', 'score': 10.34}, {'connected_gene': 'SRRM2', 'score': 10.2}, {'connected_gene': 'ENSG00000269937', 'score': 10.03}, {'connected_gene': 'ZNF597', 'score': 9.8}, {'connected_gene': 'IL32', 'score': 5.51}, {'connected_gene': 'TRAF7', 'score': 5.27}, {'connected_gene': 'FLYWCH1', 'score': 4.67}, {'connected_gene': 'GC16P002973', 'score': 0.77}, {'connected_gene': 'KREMEN2', 'score': 0.44}, {'connected_gene': 'PKMYT1', 'score': 0.39}]
chr16	GH16I003003	3003600	3012032	2.06	[{'connected_gene': 'LOC107984895', 'score': 588.75}, {'connected_gene': 'LOC105371056', 'score': 550.77}, {'connected_gene': 'CREBBP', 'score': 51.42}, {'connected_gene': 'ZNF597', 'score': 49.41}, {'connected_gene': 'MMP25', 'score': 49.3}, {'connected_gene': 'AMDHD2', 'score': 39.4}, {'connected_gene': 'SRRM2', 'score': 31.21}, {'connected_gene': 'ZNF598', 'score': 31.07}, {'connected_gene': 'ZNF263', 'score': 28.3}, {'connected_gene': 'ZNF200', 'score': 23.9}, {'connected_gene': 'THOC6', 'score': 22.14}, {'connected_gene': 'TRAF7', 'score': 21.84}, {'connected_gene': 'E4F1', 'score': 13.22}, {'connected_gene': 'LOC105371055', 'score': 13.16}, {'connected_gene': 'ENSG00000261938', 'score': 12.81}, {'connected_gene': 'TSC2', 'score': 11.28}, {'connected_gene': 'SNORD60', 'score': 11.09}, {'connected_gene': 'MTCO1P28', 'score': 10.25}, {'connected_gene': 'LOC105371050', 'score': 9.83}, {'connected_gene': 'BICDL2', 'score': 7.82}, {'connected_gene': 'CLDN9', 'score': 7.14}, {'connected_gene': 'ENSG00000270168', 'score': 6.6}, {'connected_gene': 'PAQR4', 'score': 6.38}, {'connected_gene': 'LOC100128770', 'score': 6.03}, {'connected_gene': 'MEFV', 'score': 5.6}, {'connected_gene': 'PDPK1', 'score': 5.42}, {'connected_gene': 'ATP6V0C', 'score': 5.15}, {'connected_gene': 'FLYWCH1', 'score': 5.04}, {'connected_gene': 'PRSS22', 'score': 3.67}, {'connected_gene': 'PRSS33', 'score': 3.12}, {'connected_gene': 'NAA60', 'score': 2.16}, {'connected_gene': 'ZSCAN32', 'score': 1.34}, {'connected_gene': 'ENSG00000262362', 'score': 0.77}, {'connected_gene': 'PIR52190', 'score': 0.77}]
chr16	GH16I002979	2979372	2982709	2.52	[{'connected_gene': 'ENSG00000274367', 'score': 550.77}, {'connected_gene': 'PKMYT1', 'score': 550.77}, {'connected_gene': 'LOC107984895', 'score': 21.65}, {'connected_gene': 'ZNF263', 'score': 17.7}, {'connected_gene': 'AMDHD2', 'score': 17.45}, {'connected_gene': 'ZNF597', 'score': 15.22}, {'connected_gene': 'CREBBP', 'score': 15.13}, {'connected_gene': 'ZNF598', 'score': 14.87}, {'connected_gene': 'E4F1', 'score': 13.22}, {'connected_gene': 'TRAF7', 'score': 13.05}, {'connected_gene': 'ENSG00000261938', 'score': 12.81}, {'connected_gene': 'THOC6', 'score': 11.73}, {'connected_gene': 'SRRM2', 'score': 11.7}, {'connected_gene': 'ENSG00000270168', 'score': 11.52}, {'connected_gene': 'TSC2', 'score': 11.28}, {'connected_gene': 'SNORD60', 'score': 11.09}, {'connected_gene': 'ZNF200', 'score': 10.75}, {'connected_gene': 'PAQR4', 'score': 7.07}, {'connected_gene': 'MMP25', 'score': 5.33}, {'connected_gene': 'ZNF213-AS1', 'score': 5.01}]
chr16	GH16I002924	2924442	2926191	0.58	[{'connected_gene': 'GC16P002997', 'score': 550.77}, {'connected_gene': 'FLYWCH1', 'score': 17.0}, {'connected_gene': 'KREMEN2', 'score': 12.62}, {'connected_gene': 'PAQR4', 'score': 12.61}, {'connected_gene': 'PKMYT1', 'score': 11.47}, {'connected_gene': 'SRRM2-AS1', 'score': 10.6}, {'connected_gene': 'PRSS27', 'score': 10.21}, {'connected_gene': 'ENSG00000263235', 'score': 4.19}, {'connected_gene': 'GC16P003030', 'score': 0.31}]
chr16	GH16I003105	3105248	3107484	2.08	[{'connected_gene': 'ENSG00000263011', 'score': 550.77}, {'connected_gene': 'ZNF205', 'score': 44.28}, {'connected_gene': 'MTCO1P28', 'score': 21.1}, {'connected_gene': 'LOC105371050', 'score': 18.29}, {'connected_gene': 'ZNF213-AS1', 'score': 16.63}, {'connected_gene': 'TIGD7', 'score': 14.3}, {'connected_gene': 'MTND1P8', 'score': 12.75}, {'connected_gene': 'CLUAP1', 'score': 11.69}, {'connected_gene': 'MTRNR2L4', 'score': 10.86}, {'connected_gene': 'OR2C1', 'score': 3.11}, {'connected_gene': 'OR1F1', 'score': 2.42}, {'connected_gene': 'PAQR4', 'score': 1.49}, {'connected_gene': 'ZSCAN10', 'score': 0.44}]
chr16	GH16I002774	2774992	2779569	2.23	[{'connected_gene': 'PIR54527', 'score': 550.77}, {'connected_gene': 'GC16P002987', 'score': 550.77}, {'connected_gene': 'ENSG00000276791', 'score': 550.77}, {'connected_gene': 'ELOB', 'score': 550.77}, {'connected_gene': 'MTCO1P28', 'score': 12.53}, {'connected_gene': 'SRRM2', 'score': 12.02}, {'connected_gene': 'SRRM2-AS1', 'score': 11.55}, {'connected_gene': 'TIGD7', 'score': 11.21}, {'connected_gene': 'PRSS27', 'score': 11.2}, {'connected_gene': 'CLUAP1', 'score': 11.15}, {'connected_gene': 'ENSG00000261123', 'score': 10.93}, {'connected_gene': 'KREMEN2', 'score': 10.64}, {'connected_gene': 'PAQR4', 'score': 10.64}, {'connected_gene': 'LOC105371049', 'score': 10.5}, {'connected_gene': 'ENSG00000260095', 'score': 10.45}, {'connected_gene': 'ZNF205', 'score': 10.24}, {'connected_gene': 'ZNF75A', 'score': 9.98}, {'connected_gene': 'ENSG00000260447', 'score': 9.68}, {'connected_gene': 'PRSS33', 'score': 6.69}, {'connected_gene': 'PRSS41', 'score': 4.79}, {'connected_gene': 'GC16M002778', 'score': 0.77}]
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	GH16I002972	2972597	2973333	0.93	[{'connected_gene': 'GC16P002973', 'score': 550.77}, {'connected_gene': 'ENSG00000261938', 'score': 11.84}, {'connected_gene': 'SNORD60', 'score': 10.34}, {'connected_gene': 'SNHG19', 'score': 10.13}, {'connected_gene': 'PAQR4', 'score': 0.77}, {'connected_gene': 'GC16M002968', 'score': 0.77}, {'connected_gene': 'PKMYT1', 'score': 0.44}]
chr16	GH16I002985	2985297	2986609	0.88	[{'connected_gene': 'ENSG00000270168', 'score': 9.57}, {'connected_gene': 'PAQR4', 'score': 7.32}, {'connected_gene': 'GC16M002985', 'score': 0.77}, {'connected_gene': 'ENSG00000274367', 'score': 0.77}]
chr16	GH16I002983	2983160	2984200	1.15	[{'connected_gene': 'ENSG00000270168', 'score': 12.15}, {'connected_gene': 'PAQR4', 'score': 7.0}, {'connected_gene': 'ENSG00000274367', 'score': 0.77}]