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
ENST00000532088	[[14464985, 14465392], [14479329, 14479432]]	None
ENST00000525214	[[14473380, 14473482], [14474770, 14474851], [14479329, 14479429], [14480077, 14480233], [14481753, 14481843], [14482731, 14482768]]	None
ENST00000249923	[[14479051, 14479429], [14480077, 14480233], [14481753, 14481843], [14482731, 14482877], [14486456, 14486576], [14487827, 14487972], [14490226, 14490406], [14490881, 14491109], [14496040, 14496161], [14497330, 14497491], [14498464, 14498561], [14501114, 14501260], [14502304, 14502451], [14502535, 14502643], [14504577, 14504697], [14507912, 14508050], [14510037, 14510130], [14512110, 14512225], [14515187, 14515357], [14515755, 14515985], [14520383, 14520531], [14521154, 14521398]]	[[14479369, 14479429], [14480077, 14480233], [14481753, 14481843], [14482731, 14482877], [14486456, 14486576], [14487827, 14487972], [14490226, 14490406], [14490881, 14491109], [14496040, 14496161], [14497330, 14497491], [14498464, 14498561], [14501114, 14501260], [14502304, 14502451], [14502535, 14502643], [14504577, 14504697], [14507912, 14508050], [14510037, 14510130], [14512110, 14512225], [14515187, 14515357], [14515755, 14515985], [14520383, 14520474]]
ENST00000439561	[[14479095, 14479429], [14480077, 14480233], [14481753, 14481843], [14482731, 14482877], [14486456, 14486576], [14487827, 14487972], [14490226, 14490406], [14490881, 14491109], [14496040, 14496161], [14497330, 14497491], [14498464, 14498561], [14501114, 14501260], [14502304, 14502451], [14502535, 14502643], [14504577, 14504697], [14507912, 14508050], [14510037, 14510130], [14512110, 14512225], [14515187, 14515357], [14515755, 14515985], [14520383, 14520531], [14521252, 14521441]]	[[14479369, 14479429], [14480077, 14480233], [14481753, 14481843], [14482731, 14482877], [14486456, 14486576], [14487827, 14487972], [14490226, 14490406], [14490881, 14491109], [14496040, 14496161], [14497330, 14497491], [14498464, 14498561], [14501114, 14501260], [14502304, 14502451], [14502535, 14502643], [14504577, 14504697], [14507912, 14508050], [14510037, 14510130], [14512110, 14512225], [14515187, 14515357], [14515755, 14515985], [14520383, 14520474]]
ENST00000526527	[[14481561, 14481843], [14482731, 14482887]]	None
ENST00000526191	[[14495555, 14496161], [14497330, 14497421]]	None
ENST00000534234	[[14498462, 14498561], [14501114, 14501260], [14502304, 14502451], [14502535, 14502643], [14504577, 14504697], [14507912, 14508050], [14510037, 14510130], [14512110, 14512225], [14515187, 14515357], [14515755, 14515985], [14520383, 14520531], [14521287, 14521357]]	[[14498462, 14498561], [14501114, 14501260], [14502304, 14502451], [14502535, 14502643], [14504577, 14504697], [14507912, 14508050], [14510037, 14510130], [14512110, 14512225], [14515187, 14515357], [14515755, 14515985], [14520383, 14520474]]
ENST00000529866	[[14515266, 14515357], [14515755, 14515985], [14520383, 14520531], [14521148, 14521408]]	[[14515266, 14515357], [14515755, 14515985], [14520383, 14520474]]
ENST00000534771	[[14515282, 14515357], [14515755, 14515985], [14520383, 14520531], [14521450, 14521573]]	[[14515282, 14515357], [14515755, 14515985], [14520383, 14520474]]
ENST00000533096	[[14515805, 14515985], [14516118, 14516273], [14520383, 14520531], [14521148, 14521212]]	None
ENST00000533533	[[14515855, 14515985], [14516118, 14516273], [14520383, 14520531], [14521252, 14521356]]	None
ENST00000529210	[[14515862, 14515985], [14516077, 14516273], [14520383, 14520531], [14521252, 14521392]]	None
NM_016451	[[14479048, 14479429], [14480077, 14480233], [14481753, 14481843], [14482731, 14482877], [14486456, 14486576], [14487827, 14487972], [14490226, 14490406], [14490881, 14491109], [14496040, 14496161], [14497330, 14497491], [14498464, 14498561], [14501114, 14501260], [14502304, 14502451], [14502535, 14502643], [14504577, 14504697], [14507912, 14508050], [14510037, 14510130], [14512110, 14512225], [14515187, 14515357], [14515755, 14515985], [14520383, 14520531], [14521154, 14521404]]	[[14479369, 14479429], [14480077, 14480233], [14481753, 14481843], [14482731, 14482877], [14486456, 14486576], [14487827, 14487972], [14490226, 14490406], [14490881, 14491109], [14496040, 14496161], [14497330, 14497491], [14498464, 14498561], [14501114, 14501260], [14502304, 14502451], [14502535, 14502643], [14504577, 14504697], [14507912, 14508050], [14510037, 14510130], [14512110, 14512225], [14515187, 14515357], [14515755, 14515985], [14520383, 14520474]]
NM_001144062	[[14479048, 14479429], [14480077, 14480233], [14481753, 14481843], [14482731, 14482877], [14486456, 14486576], [14487827, 14487972], [14490226, 14490406], [14490881, 14491109], [14496040, 14496161], [14497330, 14497491], [14498464, 14498561], [14501114, 14501260], [14502304, 14502451], [14502535, 14502643], [14504577, 14504697], [14507912, 14508050], [14510037, 14510130], [14512110, 14512225], [14515187, 14515357], [14515755, 14515985], [14520383, 14520531], [14521287, 14521415]]	[[14479369, 14479429], [14480077, 14480233], [14481753, 14481843], [14482731, 14482877], [14486456, 14486576], [14487827, 14487972], [14490226, 14490406], [14490881, 14491109], [14496040, 14496161], [14497330, 14497491], [14498464, 14498561], [14501114, 14501260], [14502304, 14502451], [14502535, 14502643], [14504577, 14504697], [14507912, 14508050], [14510037, 14510130], [14512110, 14512225], [14515187, 14515357], [14515755, 14515985], [14520383, 14520474]]
NM_001144061	[[14479048, 14479429], [14480077, 14480233], [14481753, 14481843], [14482731, 14482877], [14486456, 14486576], [14487827, 14487972], [14490226, 14490406], [14490881, 14491109], [14496040, 14496161], [14497330, 14497491], [14498464, 14498561], [14501114, 14501260], [14502304, 14502451], [14502535, 14502643], [14504577, 14504697], [14507912, 14508050], [14510037, 14510130], [14512110, 14512225], [14515187, 14515357], [14515755, 14515985], [14520383, 14520531], [14521252, 14521441]]	[[14479369, 14479429], [14480077, 14480233], [14481753, 14481843], [14482731, 14482877], [14486456, 14486576], [14487827, 14487972], [14490226, 14490406], [14490881, 14491109], [14496040, 14496161], [14497330, 14497491], [14498464, 14498561], [14501114, 14501260], [14502304, 14502451], [14502535, 14502643], [14504577, 14504697], [14507912, 14508050], [14510037, 14510130], [14512110, 14512225], [14515187, 14515357], [14515755, 14515985], [14520383, 14520474]]

Promoter

Chrom	Start	End	Description
chr11	14491087	14491095	CAGE_peak_4_at_COPB1_5end
chr11	14520553	14520569	CAGE_peak_3_at_COPB1_5end
chr11	14521349	14521365	CAGE_peak_2_at_COPB1_5end
chr11	14521379	14521418	CAGE_peak_1_at_COPB1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I014638	14638608	14640877	0.43	[{'connected_gene': 'CALCP', 'score': 10.1}, {'connected_gene': 'CALCB', 'score': 10.1}, {'connected_gene': 'COPB1', 'score': 5.78}, {'connected_gene': 'PSMA1', 'score': 0.77}, {'connected_gene': 'PIR39085', 'score': 0.28}]
chr11	GH11I014907	14907395	14908201	1.06	[{'connected_gene': 'CALCP', 'score': 550.77}, {'connected_gene': 'COPB1', 'score': 17.72}, {'connected_gene': 'CALCB', 'score': 0.77}, {'connected_gene': 'GC11M014875', 'score': 0.23}]
chr11	GH11I014668	14668016	14671961	0.82	[{'connected_gene': 'PSMA1', 'score': 11.54}, {'connected_gene': 'PDE3B', 'score': 11.54}, {'connected_gene': 'COPB1', 'score': 6.51}, {'connected_gene': 'MORF4L1P3', 'score': 0.77}]
chr11	GH11I014642	14642378	14646744	2.2	[{'connected_gene': 'PSMA1', 'score': 550.77}, {'connected_gene': 'PDE3B', 'score': 550.77}, {'connected_gene': 'COPB1', 'score': 17.78}, {'connected_gene': 'MORF4L1P3', 'score': 0.31}]
chr11	GH11I014540	14540001	14540800	0.85	[{'connected_gene': 'PSMA1', 'score': 12.15}, {'connected_gene': 'PDE3B', 'score': 12.15}, {'connected_gene': 'COPB1', 'score': 11.25}, {'connected_gene': 'RRAS2', 'score': 4.22}, {'connected_gene': 'ENSG00000256206', 'score': 0.34}, {'connected_gene': 'PIR39085', 'score': 0.22}]
chr11	GH11I014536	14536802	14538799	1.1	[{'connected_gene': 'PSMA1', 'score': 13.29}, {'connected_gene': 'PDE3B', 'score': 12.15}, {'connected_gene': 'COPB1', 'score': 11.27}, {'connected_gene': 'ENSG00000256206', 'score': 0.37}, {'connected_gene': 'PIR39085', 'score': 0.21}]
chr11	GH11I014541	14541002	14542000	0.91	[{'connected_gene': 'PSMA1', 'score': 12.15}, {'connected_gene': 'PDE3B', 'score': 12.15}, {'connected_gene': 'COPB1', 'score': 11.25}, {'connected_gene': 'ENSG00000256206', 'score': 0.34}, {'connected_gene': 'PIR39085', 'score': 0.22}]
chr11	GH11I014618	14618913	14620897	1.06	[{'connected_gene': 'PSMA1', 'score': 11.75}, {'connected_gene': 'PDE3B', 'score': 11.75}, {'connected_gene': 'COPB1', 'score': 6.18}, {'connected_gene': 'PIR39085', 'score': 0.37}]
chr11	GH11I014617	14617204	14618613	0.87	[{'connected_gene': 'PSMA1', 'score': 11.72}, {'connected_gene': 'PDE3B', 'score': 11.72}, {'connected_gene': 'COPB1', 'score': 6.61}, {'connected_gene': 'PIR39085', 'score': 0.37}]
chr11	GH11I014518	14518458	14521413	2.08	[{'connected_gene': 'PSMA1', 'score': 560.54}, {'connected_gene': 'ENSG00000256206', 'score': 550.77}, {'connected_gene': 'COPB1', 'score': 36.56}, {'connected_gene': 'CYP2R1', 'score': 9.91}, {'connected_gene': 'SPON1', 'score': 8.83}, {'connected_gene': 'RRAS2', 'score': 6.03}]
chr11	GH11I014672	14672109	14674217	0.31	[{'connected_gene': 'MORF4L1P3', 'score': 550.77}, {'connected_gene': 'PSMA1', 'score': 11.54}, {'connected_gene': 'PDE3B', 'score': 11.54}, {'connected_gene': 'CALCB', 'score': 4.94}, {'connected_gene': 'COPB1', 'score': 4.75}]
chr11	GH11I014625	14625001	14626704	0.71	[{'connected_gene': 'COPB1', 'score': 5.96}, {'connected_gene': 'PSMA1', 'score': 0.37}, {'connected_gene': 'PIR39085', 'score': 0.31}]
chr11	GH11I014647	14647801	14648400	0.51	[{'connected_gene': 'COPB1', 'score': 4.77}, {'connected_gene': 'PDE3B', 'score': 0.77}, {'connected_gene': 'MORF4L1P3', 'score': 0.31}]
chr11	GH11I015053	15053315	15053384	0.75	[{'connected_gene': 'COPB1', 'score': 12.35}, {'connected_gene': 'INSC', 'score': 10.25}, {'connected_gene': 'GC11P015078', 'score': 0.31}, {'connected_gene': 'GC11P015027', 'score': 0.31}, {'connected_gene': 'CALCB', 'score': 0.11}]
chr11	GH11I014445	14445011	14447854	0.72	[{'connected_gene': 'COPB1', 'score': 9.06}, {'connected_gene': 'RRAS2', 'score': 6.09}, {'connected_gene': 'LOC105376670', 'score': 0.39}, {'connected_gene': 'GC11P014466', 'score': 0.34}]
chr11	GH11I014416	14416810	14418017	0.38	[{'connected_gene': 'COPB1', 'score': 9.47}, {'connected_gene': 'RRAS2', 'score': 6.23}, {'connected_gene': 'LOC105376670', 'score': 0.37}]
chr11	GH11I015074	15074235	15075399	1.1	[{'connected_gene': 'COPB1', 'score': 18.63}, {'connected_gene': 'CYP2R1', 'score': 11.76}, {'connected_gene': 'CALCA', 'score': 11.1}, {'connected_gene': 'INSC', 'score': 10.28}, {'connected_gene': 'GC11P015078', 'score': 0.77}, {'connected_gene': 'GC11P015027', 'score': 0.25}, {'connected_gene': 'CALCB', 'score': 0.1}]
chr11	GH11I014074	14074000	14074601	0.76	[{'connected_gene': 'COPB1', 'score': 11.77}, {'connected_gene': 'GC11M014052', 'score': 0.37}, {'connected_gene': 'GC11P014134', 'score': 0.21}, {'connected_gene': 'SPON1', 'score': 0.14}]
chr11	GH11I014498	14498800	14501665	2.01	[{'connected_gene': 'COPB1', 'score': 560.28}, {'connected_gene': 'RNU7-49P', 'score': 11.35}, {'connected_gene': 'ENSG00000256206', 'score': 0.34}]
chr11	GH11I014894	14894842	14895725	1.16	[{'connected_gene': 'CYP2R1', 'score': 553.0}, {'connected_gene': 'COPB1', 'score': 11.78}, {'connected_gene': 'GC11P014892', 'score': 0.77}, {'connected_gene': 'CALCB', 'score': 0.44}, {'connected_gene': 'GC11M014875', 'score': 0.2}]
chr11	GH11I014890	14890758	14892884	2.05	[{'connected_gene': 'CYP2R1', 'score': 563.48}, {'connected_gene': 'GC11P014892', 'score': 550.77}, {'connected_gene': 'COPB1', 'score': 13.35}, {'connected_gene': 'GC11M014875', 'score': 0.19}, {'connected_gene': 'MORF4L1P3', 'score': 0.08}]
chr11	GH11I014421	14421270	14425059	1.4	[{'connected_gene': 'SPON1-AS1', 'score': 10.78}, {'connected_gene': 'SPON1', 'score': 9.78}, {'connected_gene': 'COPB1', 'score': 9.46}, {'connected_gene': 'RRAS2', 'score': 6.87}, {'connected_gene': 'LOC105376670', 'score': 0.39}]
chr11	GH11I014443	14443762	14443944	0.57	[{'connected_gene': 'LOC105376670', 'score': 0.44}, {'connected_gene': 'GC11P014466', 'score': 0.34}, {'connected_gene': 'COPB1', 'score': 0.22}]
chr11	GH11I014451	14451935	14452084	0.46	[{'connected_gene': 'GC11P014466', 'score': 0.39}, {'connected_gene': 'LOC105376670', 'score': 0.37}, {'connected_gene': 'COPB1', 'score': 0.25}]
chr11	GH11I014455	14455115	14455284	0.56	[{'connected_gene': 'GC11P014466', 'score': 0.39}, {'connected_gene': 'LOC105376670', 'score': 0.37}, {'connected_gene': 'COPB1', 'score': 0.26}]