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
ENST00000396925	[[3064712, 3066043], [3068149, 3068485], [3070000, 3070072]]	[[3065359, 3066022]]
ENST00000328796	[[3064713, 3066043], [3068149, 3068188]]	[[3065359, 3066022]]
ENST00000572154	[[3064857, 3065182], [3065929, 3066043], [3068149, 3068171]]	[[3065155, 3065182], [3065929, 3066022]]
NM_021195	[[3064712, 3066043], [3068149, 3068188]]	[[3065359, 3066022]]

Promoter

Chrom	Start	End	Description
chr16	3068178	3068191	CAGE_peak_1_at_CLDN6_5end
chr16	3068288	3068312	CAGE_peak_2_at_CLDN6_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I003094	3094680	3094849	0.57	[{'connected_gene': 'IL32', 'score': 12.79}, {'connected_gene': 'RNU1-125P', 'score': 12.79}, {'connected_gene': 'MMP25', 'score': 11.97}, {'connected_gene': 'BICDL2', 'score': 11.95}, {'connected_gene': 'LOC100128770', 'score': 11.94}, {'connected_gene': 'HCFC1R1', 'score': 11.92}, {'connected_gene': 'THOC6', 'score': 11.92}, {'connected_gene': 'CLDN6', 'score': 11.92}, {'connected_gene': 'TNFRSF12A', 'score': 11.01}, {'connected_gene': 'ZSCAN10', 'score': 0.77}, {'connected_gene': 'LOC105371058', 'score': 0.44}]
chr16	GH16I003097	3097001	3103199	2.06	[{'connected_gene': 'ZSCAN10', 'score': 554.99}, {'connected_gene': 'ZNF205', 'score': 37.26}, {'connected_gene': 'ZNF213-AS1', 'score': 17.88}, {'connected_gene': 'CLDN6', 'score': 11.14}, {'connected_gene': 'TNFRSF12A', 'score': 10.85}, {'connected_gene': 'ZNF205-AS1', 'score': 8.4}, {'connected_gene': 'ZNF213', 'score': 4.63}, {'connected_gene': 'ZNF263', 'score': 1.71}, {'connected_gene': 'OR1F1', 'score': 1.62}, {'connected_gene': 'ZNF597', 'score': 1.46}, {'connected_gene': 'ENSG00000263011', 'score': 0.44}]
chr16	GH16I003019	3019716	3024889	2.33	[{'connected_gene': 'THOC6', 'score': 589.5}, {'connected_gene': 'HCFC1R1', 'score': 550.77}, {'connected_gene': 'TNFRSF12A', 'score': 550.77}, {'connected_gene': 'ZNF263', 'score': 89.36}, {'connected_gene': 'ENSG00000261938', 'score': 88.5}, {'connected_gene': 'E4F1', 'score': 83.51}, {'connected_gene': 'SRRM2', 'score': 73.81}, {'connected_gene': 'TSC2', 'score': 72.36}, {'connected_gene': 'ERVK13-1', 'score': 67.8}, {'connected_gene': 'ZNF75A', 'score': 58.64}, {'connected_gene': 'CREBBP', 'score': 56.79}, {'connected_gene': 'LOC105371055', 'score': 53.65}, {'connected_gene': 'SNORD60', 'score': 52.99}, {'connected_gene': 'TRAF7', 'score': 44.29}, {'connected_gene': 'SNHG19', 'score': 35.61}, {'connected_gene': 'ZNF213-AS1', 'score': 35.54}, {'connected_gene': 'BICDL2', 'score': 30.17}, {'connected_gene': 'ZNF174', 'score': 29.08}, {'connected_gene': 'ZNF597', 'score': 28.69}, {'connected_gene': 'ENSG00000260447', 'score': 21.83}, {'connected_gene': 'AMDHD2', 'score': 20.81}, {'connected_gene': 'ZNF205', 'score': 20.23}, {'connected_gene': 'ZSCAN32', 'score': 19.34}, {'connected_gene': 'TIGD7', 'score': 18.54}, {'connected_gene': 'CLUAP1', 'score': 17.52}, {'connected_gene': 'LOC106660606', 'score': 12.17}, {'connected_gene': 'MTCO1P28', 'score': 10.84}, {'connected_gene': 'FLYWCH1', 'score': 10.49}, {'connected_gene': 'MTND1P8', 'score': 10.11}, {'connected_gene': 'LOC100128770', 'score': 6.29}, {'connected_gene': 'LOC107984895', 'score': 5.5}, {'connected_gene': 'CLDN6', 'score': 0.77}]
chr16	GH16I003095	3095520	3096770	1.1	[{'connected_gene': 'THOC6', 'score': 23.21}, {'connected_gene': 'ZNF213-AS1', 'score': 16.13}, {'connected_gene': 'SRRM2', 'score': 13.68}, {'connected_gene': 'CREBBP', 'score': 12.87}, {'connected_gene': 'RNU1-125P', 'score': 12.79}, {'connected_gene': 'IL32', 'score': 12.77}, {'connected_gene': 'MMP25', 'score': 11.96}, {'connected_gene': 'BICDL2', 'score': 11.95}, {'connected_gene': 'LOC100128770', 'score': 11.94}, {'connected_gene': 'HCFC1R1', 'score': 11.92}, {'connected_gene': 'CLDN6', 'score': 11.91}, {'connected_gene': 'E4F1', 'score': 11.6}, {'connected_gene': 'ZNF263', 'score': 11.54}, {'connected_gene': 'TNFRSF12A', 'score': 11.01}, {'connected_gene': 'ENSG00000261938', 'score': 10.58}, {'connected_gene': 'SNORD60', 'score': 10.21}, {'connected_gene': 'ZNF597', 'score': 10.2}, {'connected_gene': 'ERVK13-1', 'score': 10.19}, {'connected_gene': 'LOC105371055', 'score': 10.14}, {'connected_gene': 'ZNF213', 'score': 5.11}, {'connected_gene': 'ZSCAN10', 'score': 0.77}, {'connected_gene': 'LOC105371058', 'score': 0.44}]
chr16	GH16I003017	3017001	3018829	1.49	[{'connected_gene': 'TNFRSF12A', 'score': 550.77}, {'connected_gene': 'CLDN6', 'score': 550.77}, {'connected_gene': 'BICDL2', 'score': 24.92}, {'connected_gene': 'LOC107984895', 'score': 6.05}, {'connected_gene': 'CLDN9', 'score': 0.44}]
chr16	GH16I003020	3019560	3019709	0.87	[{'connected_gene': 'TNFRSF12A', 'score': 550.77}, {'connected_gene': 'CLDN6', 'score': 550.77}, {'connected_gene': 'ENSG00000261938', 'score': 60.32}, {'connected_gene': 'ZNF263', 'score': 58.88}, {'connected_gene': 'E4F1', 'score': 51.77}, {'connected_gene': 'TSC2', 'score': 48.48}, {'connected_gene': 'ERVK13-1', 'score': 46.37}, {'connected_gene': 'SRRM2', 'score': 42.92}, {'connected_gene': 'SNORD60', 'score': 32.34}, {'connected_gene': 'CREBBP', 'score': 31.44}, {'connected_gene': 'LOC105371055', 'score': 29.93}, {'connected_gene': 'ZNF75A', 'score': 28.64}, {'connected_gene': 'THOC6', 'score': 27.59}, {'connected_gene': 'SNHG19', 'score': 26.69}, {'connected_gene': 'TRAF7', 'score': 25.49}, {'connected_gene': 'AMDHD2', 'score': 20.82}, {'connected_gene': 'ZNF205', 'score': 20.23}, {'connected_gene': 'ZNF597', 'score': 19.28}, {'connected_gene': 'ENSG00000260447', 'score': 13.89}, {'connected_gene': 'ZNF213-AS1', 'score': 13.75}, {'connected_gene': 'ZSCAN32', 'score': 11.17}, {'connected_gene': 'ZNF174', 'score': 10.6}]
chr16	GH16I003052	3052601	3056271	0.97	[{'connected_gene': 'GC16P003447', 'score': 550.77}, {'connected_gene': 'MMP25', 'score': 29.89}, {'connected_gene': 'BICDL2', 'score': 22.63}, {'connected_gene': 'IL32', 'score': 15.5}, {'connected_gene': 'CLDN6', 'score': 12.46}, {'connected_gene': 'TNFRSF12A', 'score': 12.45}, {'connected_gene': 'ZNF205', 'score': 12.19}, {'connected_gene': 'CLDN9', 'score': 11.67}, {'connected_gene': 'PKMYT1', 'score': 11.38}, {'connected_gene': 'MMP25-AS1', 'score': 0.77}]
chr16	GH16I003128	3128664	3130468	1.62	[{'connected_gene': 'GC16M003129', 'score': 550.77}, {'connected_gene': 'ZNF213', 'score': 550.77}, {'connected_gene': 'PIR58259', 'score': 550.77}, {'connected_gene': 'IL32', 'score': 12.36}, {'connected_gene': 'RNU1-125P', 'score': 12.36}, {'connected_gene': 'MMP25', 'score': 11.55}, {'connected_gene': 'BICDL2', 'score': 11.53}, {'connected_gene': 'LOC100128770', 'score': 11.52}, {'connected_gene': 'HCFC1R1', 'score': 11.51}, {'connected_gene': 'THOC6', 'score': 11.51}, {'connected_gene': 'CLDN6', 'score': 11.51}, {'connected_gene': 'PKMYT1', 'score': 10.47}, {'connected_gene': 'ERVK13-1', 'score': 4.5}, {'connected_gene': 'ZNF213-AS1', 'score': 0.44}]
chr16	GH16I003069	3069467	3079292	1.57	[{'connected_gene': 'GC16P003518', 'score': 550.77}, {'connected_gene': 'ZNF205', 'score': 26.65}, {'connected_gene': 'LOC105371058', 'score': 23.9}, {'connected_gene': 'MMP25', 'score': 21.34}, {'connected_gene': 'IL32', 'score': 15.31}, {'connected_gene': 'FLYWCH2', 'score': 15.0}, {'connected_gene': 'BICDL2', 'score': 11.73}, {'connected_gene': 'LOC100128770', 'score': 11.72}, {'connected_gene': 'HCFC1R1', 'score': 11.69}, {'connected_gene': 'THOC6', 'score': 11.69}, {'connected_gene': 'CLDN6', 'score': 11.69}, {'connected_gene': 'TNFRSF12A', 'score': 11.11}, {'connected_gene': 'MTND1P8', 'score': 11.04}, {'connected_gene': 'RNPS1', 'score': 10.47}, {'connected_gene': 'ZNF75A', 'score': 10.4}, {'connected_gene': 'MTRNR2L4', 'score': 10.34}, {'connected_gene': 'ENSG00000261123', 'score': 10.28}, {'connected_gene': 'MTCO1P28', 'score': 10.15}, {'connected_gene': 'LOC105371049', 'score': 9.84}, {'connected_gene': 'ZNF597', 'score': 9.81}, {'connected_gene': 'TIGD7', 'score': 9.73}, {'connected_gene': 'ZNF213', 'score': 7.14}, {'connected_gene': 'ZNF205-AS1', 'score': 5.55}, {'connected_gene': 'ZNF213-AS1', 'score': 4.85}, {'connected_gene': 'PRSS33', 'score': 3.6}, {'connected_gene': 'ZNF200', 'score': 3.41}, {'connected_gene': 'ZSCAN32', 'score': 3.31}, {'connected_gene': 'MEFV', 'score': 2.04}, {'connected_gene': 'NAA60', 'score': 1.73}, {'connected_gene': 'SRRM2', 'score': 1.16}, {'connected_gene': 'RNU1-125P', '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}]