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
ENST00000454872	[[174577069, 174577240], [174814579, 174815081], [174951720, 174951994], [174974199, 174974319], [175041963, 175042114], [175165016, 175165160], [175181188, 175181281], [175184766, 175184972], [175189426, 175189546], [175293828, 175293975], [175345078, 175345174], [175455093, 175455187], [175473007, 175473206], [175520792, 175523428]]	[[174577197, 174577240], [174814579, 174815081], [174951720, 174951994], [174974199, 174974319], [175041963, 175042114], [175165016, 175165160], [175181188, 175181281], [175184766, 175184972], [175189426, 175189546], [175293828, 175293975], [175345078, 175345174], [175455093, 175455187], [175473007, 175473206], [175520792, 175520991]]
ENST00000473253	[[174581605, 174581880], [174814579, 174815081], [174951720, 174951994], [174974199, 174974319], [175041963, 175042114], [175165016, 175165160], [175181188, 175181281], [175184766, 175184972], [175189426, 175189546], [175293828, 175293975], [175298939, 175299009]]	None
ENST00000489299	[[174842195, 174842431], [174935865, 174935913], [174951720, 174951994], [174974199, 174974319], [175041963, 175042114], [175181188, 175181281], [175184766, 175184972], [175189426, 175189546], [175293828, 175293975], [175345078, 175345174], [175373268, 175373351]]	None
ENST00000414826	[[174974199, 174974319], [175165016, 175165160], [175177832, 175177963], [175181188, 175181281], [175184766, 175184972], [175189426, 175189546], [175205315, 175205437]]	[[174974199, 174974319], [175165016, 175165061]]
ENST00000482228	[[174156362, 174156475], [174254410, 174254473]]	None
ENST00000491329	[[174156362, 174156475], [174231298, 174231355], [174409762, 174409846], [174455430, 174455536]]	None
ENST00000481679	[[174158734, 174158822], [174176303, 174176386], [174177030, 174177102], [174241202, 174241338], [174254410, 174254473], [174258517, 174258538]]	None
ENST00000495900	[[174158772, 174158822], [174254410, 174254473], [174268358, 174269149]]	None
ENST00000489729	[[174158776, 174158822], [174254410, 174254473], [174268358, 174268427], [174455430, 174455536]]	None
ENST00000434257	[[174158776, 174158822], [174268358, 174268427], [174455430, 174455536], [174814579, 174814932]]	[[174814587, 174814932]]
ENST00000485853	[[174577111, 174577240], [174814579, 174815081], [174951720, 174951994], [174974199, 174975002]]	None
ENST00000478624	[[174158767, 174158822], [174176303, 174176386], [174177030, 174177567]]	None
NM_207015	[[174577110, 174577240], [174814579, 174815081], [174951720, 174951994], [174974199, 174974319], [175041963, 175042114], [175165016, 175165160], [175181188, 175181281], [175184766, 175184972], [175189426, 175189546], [175293828, 175293975], [175345078, 175345174], [175455093, 175455187], [175473007, 175473206], [175520792, 175523428]]	[[174577197, 174577240], [174814579, 174815081], [174951720, 174951994], [174974199, 174974319], [175041963, 175042114], [175165016, 175165160], [175181188, 175181281], [175184766, 175184972], [175189426, 175189546], [175293828, 175293975], [175345078, 175345174], [175455093, 175455187], [175473007, 175473206], [175520792, 175520991]]

Promoter

Chrom	Start	End	Description
chr3	174158732	174158801	CAGE_peak_1_at_NAALADL2_5end
chr3	174577105	174577136	CAGE_peak_2_at_NAALADL2_5end
chr3	174581572	174581585	CAGE_peak_6_at_NAALADL2_5end
chr3	174581600	174581648	CAGE_peak_5_at_NAALADL2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I174858	174858573	174860276	1.22	[{'connected_gene': 'NAALADL2', 'score': 550.05}, {'connected_gene': 'GC03P174886', 'score': 0.31}, {'connected_gene': 'RN7SKP40', 'score': 0.07}]
chr3	GH03I174412	174412951	174413888	0.31	[{'connected_gene': 'NAALADL2', 'score': 11.51}, {'connected_gene': 'LOC105374226', 'score': 0.44}, {'connected_gene': 'RPL8P4', 'score': 0.28}]
chr3	GH03I174438	174438011	174443295	1.95	[{'connected_gene': 'NAALADL2', 'score': 0.77}, {'connected_gene': 'GC03P174559', 'score': 0.13}]
chr3	GH03I174444	174444401	174444768	0.2	[{'connected_gene': 'NAALADL2', 'score': 0.44}, {'connected_gene': 'GC03P174559', 'score': 0.14}]
chr3	GH03I174466	174466368	174467480	0.31	[{'connected_gene': 'NAALADL2', 'score': 0.31}, {'connected_gene': 'GC03P174559', 'score': 0.16}]
chr3	GH03I175411	175411532	175411681	0.31	[{'connected_gene': 'RNU6-1233P', 'score': 0.39}, {'connected_gene': 'GC03P175466', 'score': 0.22}, {'connected_gene': 'NAALADL2', 'score': 0.02}]
chr3	GH03I175410	175410392	175410541	0.31	[{'connected_gene': 'RNU6-1233P', 'score': 0.39}, {'connected_gene': 'GC03P175466', 'score': 0.22}, {'connected_gene': 'NAALADL2', 'score': 0.02}]
chr3	GH03I175398	175398752	175399877	0.46	[{'connected_gene': 'RNU6-1233P', 'score': 550.77}, {'connected_gene': 'GC03M175398', 'score': 550.77}, {'connected_gene': 'GC03P175466', 'score': 0.2}, {'connected_gene': 'NAALADL2', 'score': 0.03}]
chr3	GH03I175355	175355406	175356486	0.6	[{'connected_gene': 'RNU6-1233P', 'score': 12.11}, {'connected_gene': 'MIR4789', 'score': 0.39}, {'connected_gene': 'NAALADL2-AS2', 'score': 0.18}, {'connected_gene': 'NAALADL2', 'score': 0.02}]
chr3	GH03I175258	175258376	175260704	0.63	[{'connected_gene': 'NAALADL2-AS1', 'score': 9.71}, {'connected_gene': 'UBE2V1P2', 'score': 4.61}, {'connected_gene': 'NAALADL2-AS2', 'score': 0.39}, {'connected_gene': 'NAALADL2-AS3', 'score': 0.11}, {'connected_gene': 'NAALADL2', 'score': 0.03}]
chr3	GH03I175266	175266298	175270969	1.08	[{'connected_gene': 'NAALADL2-AS2', 'score': 0.77}, {'connected_gene': 'NAALADL2-AS3', 'score': 0.1}, {'connected_gene': 'NAALADL2', 'score': 0.03}]
chr3	GH03I175200	175200476	175201235	0.2	[{'connected_gene': 'NAALADL2-AS2', 'score': 10.91}, {'connected_gene': 'NAALADL2-AS3', 'score': 0.17}, {'connected_gene': 'NAALADL2', 'score': 0.03}]
chr3	GH03I175231	175231774	175231993	0.34	[{'connected_gene': 'NAALADL2-AS2', 'score': 0.28}, {'connected_gene': 'NAALADL2-AS3', 'score': 0.13}, {'connected_gene': 'NAALADL2', 'score': 0.03}]
chr3	GH03I175307	175307391	175308522	0.57	[{'connected_gene': 'NAALADL2-AS2', 'score': 11.51}, {'connected_gene': 'MIR4789', 'score': 0.21}, {'connected_gene': 'NAALADL2', 'score': 0.03}]
chr3	GH03I175315	175315138	175317884	0.31	[{'connected_gene': 'NAALADL2-AS2', 'score': 0.25}, {'connected_gene': 'MIR4789', 'score': 0.23}, {'connected_gene': 'NAALADL2', 'score': 0.02}]
chr3	GH03I175347	175347032	175347221	0.82	[{'connected_gene': 'NAALADL2-AS2', 'score': 11.03}, {'connected_gene': 'MIR4789', 'score': 0.34}, {'connected_gene': 'NAALADL2', 'score': 0.02}]
chr3	GH03I175341	175341482	175344856	0.54	[{'connected_gene': 'NAALADL2-AS2', 'score': 10.44}, {'connected_gene': 'MIR4789', 'score': 0.31}, {'connected_gene': 'NAALADL2', 'score': 0.02}]
chr3	GH03I175303	175303609	175304909	0.38	[{'connected_gene': 'NAALADL2-AS2', 'score': 11.79}, {'connected_gene': 'MIR4789', 'score': 0.2}, {'connected_gene': 'NAALADL2', 'score': 0.03}]
chr3	GH03I175274	175274183	175274623	0.81	[{'connected_gene': 'NAALADL2-AS2', 'score': 0.77}, {'connected_gene': 'MIR4789', 'score': 0.15}, {'connected_gene': 'NAALADL2', 'score': 0.03}]
chr3	GH03I175338	175338618	175339439	1.11	[{'connected_gene': 'NAALADL2-AS2', 'score': 10.45}, {'connected_gene': 'MIR4789', 'score': 0.29}, {'connected_gene': 'NAALADL2', 'score': 0.02}]
chr3	GH03I175335	175335609	175337032	0.77	[{'connected_gene': 'NAALADL2-AS2', 'score': 10.73}, {'connected_gene': 'MIR4789', 'score': 0.29}, {'connected_gene': 'NAALADL2', 'score': 0.03}]
chr3	GH03I175145	175145579	175147726	0.43	[{'connected_gene': 'NAALADL2-AS3', 'score': 0.29}, {'connected_gene': 'NAALADL2-AS2', 'score': 0.13}, {'connected_gene': 'NAALADL2', 'score': 0.03}]
chr3	GH03I175150	175150549	175151745	0.94	[{'connected_gene': 'NAALADL2-AS3', 'score': 0.28}, {'connected_gene': 'NAALADL2-AS2', 'score': 0.13}, {'connected_gene': 'NAALADL2', 'score': 0.03}]
chr3	GH03I175179	175179231	175179380	0.63	[{'connected_gene': 'NAALADL2-AS3', 'score': 0.21}, {'connected_gene': 'NAALADL2-AS2', 'score': 0.16}, {'connected_gene': 'NAALADL2', 'score': 0.02}]
chr3	GH03I175154	175154761	175155731	0.2	[{'connected_gene': 'NAALADL2-AS3', 'score': 0.26}, {'connected_gene': 'NAALADL2-AS2', 'score': 0.13}, {'connected_gene': 'NAALADL2', 'score': 0.03}]
chr3	GH03I175325	175325270	175326682	0.31	[{'connected_gene': 'MIR4789', 'score': 0.26}, {'connected_gene': 'NAALADL2-AS2', 'score': 0.23}, {'connected_gene': 'NAALADL2', 'score': 0.02}]
chr3	GH03I175353	175353333	175354224	0.43	[{'connected_gene': 'MIR4789', 'score': 0.37}, {'connected_gene': 'NAALADL2-AS2', 'score': 0.18}, {'connected_gene': 'NAALADL2', 'score': 0.02}]
chr3	GH03I175001	175001718	175004307	0.46	[{'connected_gene': 'EEF1B2P8', 'score': 0.22}, {'connected_gene': 'GC03P174886', 'score': 0.13}, {'connected_gene': 'NAALADL2', 'score': 0.03}]
chr3	GH03I174539	174539399	174541172	0.66	[{'connected_gene': 'GC03P174559', 'score': 0.37}, {'connected_gene': 'NAALADL2', 'score': 0.15}]
chr3	GH03I174543	174543156	174543542	0.22	[{'connected_gene': 'GC03P174559', 'score': 0.37}, {'connected_gene': 'NAALADL2', 'score': 0.15}]
chr3	GH03I174538	174538318	174538984	0.31	[{'connected_gene': 'GC03P174559', 'score': 0.34}, {'connected_gene': 'NAALADL2', 'score': 0.15}]
chr3	GH03I175430	175430822	175434381	0.81	[{'connected_gene': 'GC03P175466', 'score': 0.29}, {'connected_gene': 'RNU6-1233P', 'score': 0.28}, {'connected_gene': 'NAALADL2', 'score': 0.02}]
chr3	GH03I174861	174861745	174864483	0.77	[{'connected_gene': 'GC03P174886', 'score': 0.34}, {'connected_gene': 'RN7SKP40', 'score': 0.07}, {'connected_gene': 'NAALADL2', 'score': 0.05}]
chr3	GH03I174869	174869551	174869700	0.2	[{'connected_gene': 'GC03P174886', 'score': 0.37}, {'connected_gene': 'RN7SKP40', 'score': 0.07}, {'connected_gene': 'NAALADL2', 'score': 0.04}]
chr3	GH03I174775	174775731	174775880	0.2	[{'connected_gene': 'GC03P174886', 'score': 0.14}, {'connected_gene': 'RN7SKP40', 'score': 0.11}, {'connected_gene': 'NAALADL2', 'score': 0.05}]
chr3	GH03I175386	175386732	175386881	0.57	[{'connected_gene': 'GC03M175398', 'score': 0.39}, {'connected_gene': 'MIR4789', 'score': 0.37}, {'connected_gene': 'NAALADL2', 'score': 0.02}]
chr3	GH03I174934	174934876	174935234	0.22	[{'connected_gene': 'GC03P174886', 'score': 0.25}, {'connected_gene': 'EEF1B2P8', 'score': 0.13}, {'connected_gene': 'NAALADL2', 'score': 0.04}]
chr3	GH03I174973	174973611	174973740	0.65	[{'connected_gene': 'GC03P174886', 'score': 0.17}, {'connected_gene': 'EEF1B2P8', 'score': 0.17}, {'connected_gene': 'NAALADL2', 'score': 0.03}]
chr3	GH03I174955	174955048	174958769	0.94	[{'connected_gene': 'GC03P174886', 'score': 0.19}, {'connected_gene': 'EEF1B2P8', 'score': 0.15}, {'connected_gene': 'NAALADL2', 'score': 0.03}]
chr3	GH03I174948	174948547	174952198	0.66	[{'connected_gene': 'GC03P174886', 'score': 0.21}, {'connected_gene': 'EEF1B2P8', 'score': 0.14}, {'connected_gene': 'NAALADL2', 'score': 0.03}]