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
ENST00000205948	[[64208150, 64208306], [64210570, 64210768], [64212905, 64213085], [64216671, 64216860], [64219815, 64219892], [64222145, 64222242], [64224137, 64224314], [64225433, 64225535]]	[[64208250, 64208306], [64210570, 64210768], [64212905, 64213085], [64216671, 64216860], [64219815, 64219892], [64222145, 64222242], [64224137, 64224314], [64225433, 64225497]]
ENST00000577982	[[64216731, 64216860], [64219815, 64219892], [64222145, 64222242], [64224137, 64224314], [64225433, 64225540], [64252523, 64252643]]	[[64216731, 64216860], [64219815, 64219892], [64222145, 64222242], [64224137, 64224314], [64225433, 64225497]]
ENST00000585162	[[64208156, 64208306], [64212905, 64213085], [64216671, 64216748]]	[[64208250, 64208306], [64212905, 64213085], [64216671, 64216748]]
ENST00000581797	[[64212908, 64213085], [64216671, 64216860], [64219815, 64219892], [64222145, 64222242], [64224137, 64224314], [64224724, 64224755]]	[[64212908, 64213085], [64216671, 64216860], [64219815, 64219892], [64222145, 64222242], [64224137, 64224198]]
NM_000042	[[64208146, 64208306], [64210570, 64210768], [64212905, 64213085], [64216671, 64216860], [64219815, 64219892], [64222145, 64222242], [64224137, 64224314], [64225433, 64225556]]	[[64208250, 64208306], [64210570, 64210768], [64212905, 64213085], [64216671, 64216860], [64219815, 64219892], [64222145, 64222242], [64224137, 64224314], [64225433, 64225497]]

Promoter

Chrom	Start	End	Description
chr17	64224174	64224204	CAGE_peak_2_at_APOH_5end
chr17	64224211	64224222	CAGE_peak_5_at_APOH_5end
chr17	64224233	64224252	CAGE_peak_3_at_APOH_5end
chr17	64224286	64224303	CAGE_peak_4_at_APOH_5end
chr17	64224308	64224320	CAGE_peak_6_at_APOH_5end
chr17	64225508	64225539	CAGE_peak_1_at_APOH_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I066347	66347060	66352561	1.22	[{'connected_gene': 'HELZ', 'score': 16.63}, {'connected_gene': 'PRKCA', 'score': 11.73}, {'connected_gene': 'APOH', 'score': 11.05}, {'connected_gene': 'PRKCA-AS1', 'score': 8.87}, {'connected_gene': 'RN7SL735P', 'score': 0.39}]
chr17	GH17I066506	66506683	66510750	1.44	[{'connected_gene': 'HELZ', 'score': 10.15}, {'connected_gene': 'APOH', 'score': 10.14}, {'connected_gene': 'PRKCA', 'score': 6.74}, {'connected_gene': 'GC17M066521', 'score': 0.37}, {'connected_gene': 'PRKCA-AS1', 'score': 0.16}]
chr17	GH17I066546	66546714	66551765	1.24	[{'connected_gene': 'HELZ', 'score': 16.61}, {'connected_gene': 'APOH', 'score': 10.8}, {'connected_gene': 'GC17M066521', 'score': 0.34}, {'connected_gene': 'GC17P066610', 'score': 0.21}, {'connected_gene': 'PRKCA', 'score': 0.07}]
chr17	GH17I066673	66673179	66674802	1.28	[{'connected_gene': 'HELZ', 'score': 14.38}, {'connected_gene': 'APOH', 'score': 10.39}, {'connected_gene': 'ENSG00000229330', 'score': 0.77}, {'connected_gene': 'RNA5SP445', 'score': 0.29}, {'connected_gene': 'PRKCA', 'score': 0.05}]
chr17	GH17I066263	66263934	66264439	0.68	[{'connected_gene': 'HELZ', 'score': 14.37}, {'connected_gene': 'RNA5SP444', 'score': 0.77}, {'connected_gene': 'APOH', 'score': 0.44}]
chr17	GH17I066240	66240783	66240892	0.57	[{'connected_gene': 'PRKCA', 'score': 10.63}, {'connected_gene': 'APOH', 'score': 0.37}, {'connected_gene': 'PSMD7P1', 'score': 0.26}]
chr17	GH17I066235	66235463	66235612	0.87	[{'connected_gene': 'PRKCA', 'score': 5.99}, {'connected_gene': 'APOH', 'score': 0.34}, {'connected_gene': 'PSMD7P1', 'score': 0.28}]
chr17	GH17I066246	66246396	66246871	0.56	[{'connected_gene': 'PRKCA', 'score': 10.77}, {'connected_gene': 'APOH', 'score': 0.44}, {'connected_gene': 'PSMD7P1', 'score': 0.25}]
chr17	GH17I066345	66345283	66346987	0.9	[{'connected_gene': 'PRKCA', 'score': 11.74}, {'connected_gene': 'APOH', 'score': 11.06}, {'connected_gene': 'RN7SL735P', 'score': 0.37}]
chr17	GH17I066353	66353570	66355964	1.04	[{'connected_gene': 'PRKCA', 'score': 10.83}, {'connected_gene': 'APOH', 'score': 10.83}, {'connected_gene': 'PRKCA-AS1', 'score': 8.88}, {'connected_gene': 'RN7SL735P', 'score': 0.44}]
chr17	GH17I066229	66229006	66230175	1.4	[{'connected_gene': 'APOH', 'score': 550.31}, {'connected_gene': 'PRKCA', 'score': 10.22}, {'connected_gene': 'PSMD7P1', 'score': 0.29}]
chr17	GH17I066551	66551903	66552052	0.52	[{'connected_gene': 'APOH', 'score': 10.8}, {'connected_gene': 'GC17M066521', 'score': 0.31}, {'connected_gene': 'GC17P066610', 'score': 0.22}, {'connected_gene': 'PRKCA', 'score': 0.07}]
chr17	GH17I066552	66552359	66552983	0.31	[{'connected_gene': 'APOH', 'score': 10.8}, {'connected_gene': 'GC17M066521', 'score': 0.31}, {'connected_gene': 'GC17P066610', 'score': 0.22}, {'connected_gene': 'PRKCA', 'score': 0.07}]
chr17	GH17I066687	66687623	66687772	0.31	[{'connected_gene': 'APOH', 'score': 10.55}, {'connected_gene': 'ENSG00000229330', 'score': 0.39}, {'connected_gene': 'PIR44901', 'score': 0.26}, {'connected_gene': 'PRKCA', 'score': 0.05}]
chr17	GH17I066689	66689923	66690741	0.31	[{'connected_gene': 'APOH', 'score': 10.55}, {'connected_gene': 'ENSG00000229330', 'score': 0.39}, {'connected_gene': 'PIR44901', 'score': 0.28}, {'connected_gene': 'PRKCA', 'score': 0.05}]
chr17	GH17I066566	66566668	66568625	1.33	[{'connected_gene': 'APOH', 'score': 10.33}, {'connected_gene': 'GC17P066610', 'score': 0.26}, {'connected_gene': 'GC17M066521', 'score': 0.26}, {'connected_gene': 'PRKCA', 'score': 0.06}]
chr17	GH17I066555	66555186	66555738	0.2	[{'connected_gene': 'APOH', 'score': 10.8}, {'connected_gene': 'GC17M066521', 'score': 0.29}, {'connected_gene': 'GC17P066610', 'score': 0.22}, {'connected_gene': 'PRKCA', 'score': 0.07}]
chr17	GH17I066690	66689303	66689452	0.43	[{'connected_gene': 'APOH', 'score': 10.55}, {'connected_gene': 'ENSG00000229330', 'score': 0.39}, {'connected_gene': 'PIR44901', 'score': 0.28}, {'connected_gene': 'PRKCA', 'score': 0.05}]
chr17	GH17I066295	66295617	66296686	0.88	[{'connected_gene': 'APOH', 'score': 10.5}, {'connected_gene': 'PRKCA', 'score': 0.44}, {'connected_gene': 'ENSG00000284242', 'score': 0.37}]
chr17	GH17I066255	66255143	66255401	1.25	[{'connected_gene': 'APOH', 'score': 550.77}, {'connected_gene': 'PSMD7P1', 'score': 0.22}]
chr17	GH17I066200	66200601	66201001	1.25	[{'connected_gene': 'APOH', 'score': 11.66}, {'connected_gene': 'PSMD7P1', 'score': 0.77}]
chr17	GH17I066201	66201903	66202012	0.59	[{'connected_gene': 'APOH', 'score': 11.67}, {'connected_gene': 'PSMD7P1', 'score': 0.77}]
chr17	GH17I066652	66652836	66656592	0.66	[{'connected_gene': 'APOH', 'score': 10.27}, {'connected_gene': 'CACNG4', 'score': 4.5}, {'connected_gene': 'RNA5SP445', 'score': 0.37}, {'connected_gene': 'ENSG00000229330', 'score': 0.34}, {'connected_gene': 'PRKCA', 'score': 0.05}]
chr17	GH17I066456	66453479	66454561	0.2	[{'connected_gene': 'APOH', 'score': 10.36}, {'connected_gene': 'PRKCA-AS1', 'score': 0.28}, {'connected_gene': 'GC17M066521', 'score': 0.19}, {'connected_gene': 'PRKCA', 'score': 0.1}]
chr17	GH17I066454	66454661	66455681	0.2	[{'connected_gene': 'APOH', 'score': 10.36}, {'connected_gene': 'PRKCA-AS1', 'score': 0.28}, {'connected_gene': 'GC17M066521', 'score': 0.19}, {'connected_gene': 'PRKCA', 'score': 0.1}]
chr17	GH17I066452	66452869	66453334	0.2	[{'connected_gene': 'APOH', 'score': 10.36}, {'connected_gene': 'PRKCA-AS1', 'score': 0.28}, {'connected_gene': 'GC17M066521', 'score': 0.19}, {'connected_gene': 'PRKCA', 'score': 0.1}]
chr17	GH17I066197	66197954	66198204	0.33	[{'connected_gene': 'PSMD7P1', 'score': 550.77}, {'connected_gene': 'APOH', 'score': 11.72}]
chr17	GH17I066904	66904619	66905996	0.82	[{'connected_gene': 'CACNG5', 'score': 10.82}, {'connected_gene': 'APOH', 'score': 4.91}, {'connected_gene': 'PRKCA', 'score': 4.16}, {'connected_gene': 'RNA5SP446', 'score': 0.44}, {'connected_gene': 'GC17P066938', 'score': 0.29}]
chr17	GH17I066502	66502867	66503872	1.37	[{'connected_gene': 'CEP112', 'score': 12.81}, {'connected_gene': 'HELZ', 'score': 10.15}, {'connected_gene': 'APOH', 'score': 10.14}, {'connected_gene': 'PRKCA', 'score': 4.37}, {'connected_gene': 'GC17M066521', 'score': 0.34}, {'connected_gene': 'PRKCA-AS1', 'score': 0.17}]
chr17	GH17I066525	66525870	66532364	0.52	[{'connected_gene': 'CEP112', 'score': 12.81}, {'connected_gene': 'APOH', 'score': 10.42}, {'connected_gene': 'PRKCA', 'score': 8.57}, {'connected_gene': 'GC17M066521', 'score': 0.77}, {'connected_gene': 'GC17P066610', 'score': 0.18}]
chr17	GH17I066190	66190427	66192919	1.93	[{'connected_gene': 'CEP112', 'score': 560.68}, {'connected_gene': 'APOH', 'score': 11.13}, {'connected_gene': 'GC17P065911', 'score': 0.06}]
chr17	GH17I066420	66420281	66421645	0.97	[{'connected_gene': 'PRKCA-AS1', 'score': 12.48}, {'connected_gene': 'APOH', 'score': 10.26}, {'connected_gene': 'GC17M066521', 'score': 0.15}, {'connected_gene': 'PRKCA', 'score': 0.13}]
chr17	GH17I066522	66522375	66525256	1.09	[{'connected_gene': 'GC17M066521', 'score': 550.77}, {'connected_gene': 'APOH', 'score': 10.42}, {'connected_gene': 'PRKCA', 'score': 6.85}, {'connected_gene': 'PRKCA-AS1', 'score': 0.14}]
chr17	GH17I066674	66674942	66678642	1.08	[{'connected_gene': 'ENSG00000229330', 'score': 550.77}, {'connected_gene': 'APOH', 'score': 10.39}, {'connected_gene': 'PIR44901', 'score': 0.23}, {'connected_gene': 'PRKCA', 'score': 0.05}]