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
ENST00000330710	[[100111446, 100111799], [100118560, 100119207], [100123336, 100123480], [100125764, 100126093], [100126616, 100126743], [100129212, 100129358], [100134558, 100134640], [100138653, 100138736], [100141427, 100146906]]	[[100111544, 100111799], [100118560, 100119207], [100123336, 100123480], [100125764, 100126093], [100126616, 100126743], [100129212, 100129358], [100134558, 100134640], [100138653, 100138736], [100141427, 100141963]]
ENST00000357223	[[100111479, 100111799], [100118560, 100119207], [100123336, 100123480], [100125764, 100126093], [100126616, 100126743], [100129212, 100129358], [100134558, 100134640], [100135168, 100135614]]	[[100111544, 100111799], [100118560, 100119207], [100123336, 100123480], [100125764, 100126093], [100126616, 100126743], [100129212, 100129358], [100134558, 100134640], [100135168, 100135265]]
NM_001127258	[[100111446, 100111799], [100118560, 100119207], [100123336, 100123480], [100125764, 100126093], [100126616, 100126743], [100129212, 100129358], [100134558, 100134640], [100138653, 100138736], [100141427, 100146906]]	[[100111544, 100111799], [100118560, 100119207], [100123336, 100123480], [100125764, 100126093], [100126616, 100126743], [100129212, 100129358], [100134558, 100134640], [100138653, 100138736], [100141427, 100141963]]
NM_001329411	[[100070833, 100070952], [100091098, 100091444], [100118560, 100119207], [100123336, 100123480], [100125764, 100126093], [100126616, 100126743], [100129212, 100129358], [100134558, 100134640], [100135168, 100136675]]	[[100091384, 100091444], [100118560, 100119207], [100123336, 100123480], [100125764, 100126093], [100126616, 100126743], [100129212, 100129358], [100134558, 100134640], [100135168, 100135265]]
NM_032425	[[100111446, 100111799], [100118560, 100119207], [100123336, 100123480], [100125764, 100126093], [100126616, 100126743], [100129212, 100129358], [100134558, 100134640], [100135168, 100135611]]	[[100111544, 100111799], [100118560, 100119207], [100123336, 100123480], [100125764, 100126093], [100126616, 100126743], [100129212, 100129358], [100134558, 100134640], [100135168, 100135265]]

Promoter

Chrom	Start	End	Description
chr14	100111458	100111478	CAGE_peak_2_at_HHIPL1_5end
chr14	100111602	100111676	CAGE_peak_1_at_HHIPL1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I099544	99544272	99545294	0.63	[{'connected_gene': 'HHIPL1', 'score': 11.37}, {'connected_gene': 'CCDC85C', 'score': 9.35}, {'connected_gene': 'GC14M099518', 'score': 0.44}, {'connected_gene': 'GC14P099584', 'score': 0.28}]
chr14	GH14I099545	99545724	99545873	0.49	[{'connected_gene': 'HHIPL1', 'score': 11.37}, {'connected_gene': 'GC14M099518', 'score': 0.44}, {'connected_gene': 'GC14P099584', 'score': 0.28}, {'connected_gene': 'CCDC85C', 'score': 0.22}]
chr14	GH14I099615	99615310	99617597	0.85	[{'connected_gene': 'HHIPL1', 'score': 13.91}, {'connected_gene': 'EML1', 'score': 9.94}, {'connected_gene': 'BEGAIN', 'score': 9.74}, {'connected_gene': 'ENSG00000247970', 'score': 8.69}, {'connected_gene': 'CCDC85C', 'score': 5.94}, {'connected_gene': 'EVL', 'score': 5.24}, {'connected_gene': 'WARS', 'score': 4.64}, {'connected_gene': 'GC14P099614', 'score': 0.77}, {'connected_gene': 'GC14P099640', 'score': 0.34}]
chr14	GH14I099670	99670700	99672333	0.64	[{'connected_gene': 'HHIPL1', 'score': 25.38}, {'connected_gene': 'GC14P099668', 'score': 0.77}, {'connected_gene': 'CYP46A1', 'score': 0.39}]
chr14	GH14I099672	99672661	99672793	0.66	[{'connected_gene': 'HHIPL1', 'score': 1.74}, {'connected_gene': 'GC14P099668', 'score': 0.77}, {'connected_gene': 'CYP46A1', 'score': 0.39}]
chr14	GH14I099663	99663582	99665039	0.64	[{'connected_gene': 'HHIPL1', 'score': 9.83}, {'connected_gene': 'GC14P099668', 'score': 0.77}, {'connected_gene': 'GC14M099634', 'score': 0.39}]
chr14	GH14I099644	99644800	99645401	1.11	[{'connected_gene': 'HHIPL1', 'score': 565.55}, {'connected_gene': 'GC14P099640', 'score': 0.77}, {'connected_gene': 'GC14M099634', 'score': 0.77}]
chr14	GH14I099743	99743804	99747799	1.18	[{'connected_gene': 'WDR25', 'score': 14.17}, {'connected_gene': 'HHIPL1', 'score': 10.91}, {'connected_gene': 'EML1', 'score': 8.69}, {'connected_gene': 'GC14P099742', 'score': 0.77}, {'connected_gene': 'GC14M099754', 'score': 0.37}]
chr14	GH14I099617	99617873	99619003	0.43	[{'connected_gene': 'WARS', 'score': 5.58}, {'connected_gene': 'ENSG00000247970', 'score': 5.4}, {'connected_gene': 'GC14P099614', 'score': 0.77}, {'connected_gene': 'HHIPL1', 'score': 0.39}, {'connected_gene': 'GC14P099640', 'score': 0.34}]
chr14	GH14I099622	99622064	99622253	0.9	[{'connected_gene': 'WARS', 'score': 4.85}, {'connected_gene': 'GC14P099614', 'score': 0.44}, {'connected_gene': 'ENSG00000247970', 'score': 0.37}, {'connected_gene': 'GC14P099640', 'score': 0.37}, {'connected_gene': 'HHIPL1', 'score': 0.37}]
chr14	GH14I099560	99560023	99577989	2.14	[{'connected_gene': 'CCDC85C', 'score': 23.67}, {'connected_gene': 'CCNK', 'score': 14.59}, {'connected_gene': 'ENSG00000234648', 'score': 12.81}, {'connected_gene': 'ENSG00000247970', 'score': 12.0}, {'connected_gene': 'HHIPL1', 'score': 11.22}, {'connected_gene': 'RPL3P4', 'score': 11.18}, {'connected_gene': 'EML1', 'score': 10.12}, {'connected_gene': 'SETD3', 'score': 1.64}, {'connected_gene': 'GC14P099584', 'score': 0.39}, {'connected_gene': 'GC14M099518', 'score': 0.29}]
chr14	GH14I099594	99594642	99606693	2.73	[{'connected_gene': 'CCDC85C', 'score': 558.0}, {'connected_gene': 'HHIPL1', 'score': 14.29}, {'connected_gene': 'WDR25', 'score': 14.17}, {'connected_gene': 'CCNK', 'score': 12.65}, {'connected_gene': 'ENSG00000247970', 'score': 11.56}, {'connected_gene': 'BEGAIN', 'score': 9.75}, {'connected_gene': 'WARS', 'score': 4.64}, {'connected_gene': 'PIR41630', 'score': 0.77}]
chr14	GH14I099548	99548236	99550238	0.81	[{'connected_gene': 'CCDC85C', 'score': 19.6}, {'connected_gene': 'ENSG00000247970', 'score': 11.84}, {'connected_gene': 'HHIPL1', 'score': 11.37}, {'connected_gene': 'EML1', 'score': 10.74}, {'connected_gene': 'GC14M099518', 'score': 0.39}, {'connected_gene': 'GC14P099584', 'score': 0.29}]
chr14	GH14I099822	99822529	99823409	0.4	[{'connected_gene': 'EML1', 'score': 10.89}, {'connected_gene': 'HHIPL1', 'score': 10.7}, {'connected_gene': 'CYP46A1', 'score': 10.62}, {'connected_gene': 'GC14M099754', 'score': 0.22}, {'connected_gene': 'GC14M099882', 'score': 0.21}]
chr14	GH14I099819	99819104	99820940	0.43	[{'connected_gene': 'EML1', 'score': 11.51}, {'connected_gene': 'HHIPL1', 'score': 10.7}, {'connected_gene': 'CYP46A1', 'score': 10.66}, {'connected_gene': 'GC14M099754', 'score': 0.23}, {'connected_gene': 'GC14M099882', 'score': 0.21}]
chr14	GH14I099687	99687844	99688027	0.57	[{'connected_gene': 'EML1', 'score': 11.14}, {'connected_gene': 'HHIPL1', 'score': 11.12}, {'connected_gene': 'CYP46A1', 'score': 0.77}, {'connected_gene': 'ENSG00000258672', 'score': 0.44}]
chr14	GH14I099766	99766354	99769170	1.2	[{'connected_gene': 'EML1', 'score': 23.06}, {'connected_gene': 'HHIPL1', 'score': 10.0}, {'connected_gene': 'GC14M099754', 'score': 0.77}, {'connected_gene': 'GC14M099882', 'score': 0.13}]
chr14	GH14I099772	99772363	99773818	0.74	[{'connected_gene': 'EML1', 'score': 18.97}, {'connected_gene': 'HHIPL1', 'score': 10.0}, {'connected_gene': 'GC14M099754', 'score': 0.44}, {'connected_gene': 'GC14M099882', 'score': 0.14}]
chr14	GH14I099775	99774601	99774800	0.51	[{'connected_gene': 'EML1', 'score': 11.85}, {'connected_gene': 'HHIPL1', 'score': 9.99}, {'connected_gene': 'GC14M099754', 'score': 0.44}, {'connected_gene': 'GC14M099882', 'score': 0.14}]
chr14	GH14I099774	99774868	99775266	0.72	[{'connected_gene': 'EML1', 'score': 15.68}, {'connected_gene': 'WDR25', 'score': 10.64}, {'connected_gene': 'HHIPL1', 'score': 10.13}, {'connected_gene': 'CYP46A1', 'score': 1.39}, {'connected_gene': 'GC14M099754', 'score': 0.44}, {'connected_gene': 'GC14M099882', 'score': 0.14}]
chr14	GH14I099682	99682719	99684994	2.01	[{'connected_gene': 'CYP46A1', 'score': 550.77}, {'connected_gene': 'HHIPL1', 'score': 12.52}, {'connected_gene': 'ENSG00000258672', 'score': 7.85}, {'connected_gene': 'GC14P099668', 'score': 0.37}]
chr14	GH14I099654	99654400	99654682	0.87	[{'connected_gene': 'GC14M099634', 'score': 0.44}, {'connected_gene': 'GC14P099668', 'score': 0.39}, {'connected_gene': 'HHIPL1', 'score': 0.23}]
chr14	GH14I099624	99624569	99626408	0.62	[{'connected_gene': 'ENSG00000247970', 'score': 5.39}, {'connected_gene': 'GC14P099614', 'score': 0.39}, {'connected_gene': 'GC14P099640', 'score': 0.39}, {'connected_gene': 'HHIPL1', 'score': 0.34}]
chr14	GH14I099623	99622297	99624335	0.89	[{'connected_gene': 'ENSG00000247970', 'score': 9.25}, {'connected_gene': 'GC14P099614', 'score': 0.44}, {'connected_gene': 'GC14P099640', 'score': 0.37}, {'connected_gene': 'HHIPL1', 'score': 0.37}]
chr14	GH14I099619	99619432	99621026	0.94	[{'connected_gene': 'GC14P099614', 'score': 0.44}, {'connected_gene': 'ENSG00000247970', 'score': 0.37}, {'connected_gene': 'HHIPL1', 'score': 0.37}, {'connected_gene': 'GC14P099640', 'score': 0.34}]
chr14	GH14I099660	99660944	99661053	0.54	[{'connected_gene': 'GC14P099668', 'score': 0.44}, {'connected_gene': 'GC14M099634', 'score': 0.39}, {'connected_gene': 'HHIPL1', 'score': 0.22}]
chr14	GH14I099628	99628720	99629321	1.24	[{'connected_gene': 'ENSG00000247970', 'score': 6.16}, {'connected_gene': 'GC14P099640', 'score': 0.39}, {'connected_gene': 'GC14P099614', 'score': 0.37}, {'connected_gene': 'HHIPL1', 'score': 0.34}]
chr14	GH14I099976	99976288	99977244	0.7	[{'connected_gene': 'ENSG00000258693', 'score': 550.77}, {'connected_gene': 'RPS2P3', 'score': 550.77}, {'connected_gene': 'YY1', 'score': 18.79}, {'connected_gene': 'CCNK', 'score': 13.6}, {'connected_gene': 'MEG3', 'score': 10.19}, {'connected_gene': 'ENSG00000247970', 'score': 10.17}, {'connected_gene': 'WDR25', 'score': 10.01}, {'connected_gene': 'HHIPL1', 'score': 10.01}, {'connected_gene': 'EVL', 'score': 0.44}]
chr14	GH14I099614	99614007	99614630	0.31	[{'connected_gene': 'GC14P099614', 'score': 550.77}, {'connected_gene': 'GC14P099613', 'score': 550.77}, {'connected_gene': 'EML1', 'score': 9.94}, {'connected_gene': 'ENSG00000247970', 'score': 0.44}, {'connected_gene': 'HHIPL1', 'score': 0.44}, {'connected_gene': 'GC14P099640', 'score': 0.31}]
chr14	GH14I099611	99611464	99613736	0.69	[{'connected_gene': 'GC14P099614', 'score': 550.77}, {'connected_gene': 'GC14P099613', 'score': 550.77}, {'connected_gene': 'EML1', 'score': 9.94}, {'connected_gene': 'ENSG00000247970', 'score': 7.16}, {'connected_gene': 'WARS', 'score': 5.26}, {'connected_gene': 'HHIPL1', 'score': 0.44}]
chr14	GH14I099673	99672801	99673000	0.43	[{'connected_gene': 'GC14P099668', 'score': 0.77}, {'connected_gene': 'CYP46A1', 'score': 0.39}, {'connected_gene': 'HHIPL1', 'score': 0.2}]