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
ENST00000471236	[[123209666, 123210031], [123213639, 123213677]]	None
ENST00000383657	[[123210400, 123213817], [123219361, 123219540], [123221406, 123221528], [123247232, 123247321], [123286608, 123286627], [123301058, 123301176], [123303719, 123304032]]	[[123213734, 123213817], [123219361, 123219540], [123221406, 123221528], [123247232, 123247321], [123286608, 123286627], [123301058, 123301176], [123303719, 123303874]]
ENST00000493515	[[123218137, 123218487], [123219361, 123219540]]	[[123218482, 123218487], [123219361, 123219540]]
ENST00000480081	[[123218429, 123218477], [123219361, 123219540], [123221406, 123221753]]	None
ENST00000469317	[[123219414, 123219540], [123221406, 123221528], [123247232, 123247283], [123286608, 123286627], [123301058, 123301176], [123303248, 123303402]]	[[123219414, 123219540], [123221406, 123221528], [123247232, 123247280]]
NM_001329787	[[123210394, 123213817], [123219361, 123219540], [123221406, 123221528], [123247232, 123247321], [123286608, 123286627], [123301058, 123301176], [123303248, 123303464]]	[[123213734, 123213817], [123219361, 123219540], [123221406, 123221528], [123247232, 123247280]]
NM_001329783	[[123210394, 123213817], [123219361, 123219540], [123221406, 123221528], [123247232, 123247321], [123286608, 123286627], [123298547, 123298616], [123301058, 123301176], [123303719, 123304032]]	[[123213734, 123213817], [123219361, 123219540], [123221406, 123221528], [123247232, 123247321], [123286608, 123286627], [123298547, 123298616], [123301058, 123301176], [123303719, 123303874]]
NM_001329784	[[123210394, 123213817], [123219361, 123219540], [123221406, 123221528], [123247232, 123247321], [123269029, 123269097], [123269865, 123269934], [123286608, 123286627], [123301058, 123301176], [123303719, 123304032]]	[[123213734, 123213817], [123219361, 123219540], [123221406, 123221528], [123247232, 123247321], [123269029, 123269042]]
NM_198402	[[123210394, 123213817], [123219361, 123219540], [123221406, 123221528], [123247232, 123247321], [123286608, 123286627], [123301058, 123301176], [123303719, 123304032]]	[[123213734, 123213817], [123219361, 123219540], [123221406, 123221528], [123247232, 123247321], [123286608, 123286627], [123301058, 123301176], [123303719, 123303874]]
NM_001329786	[[123210394, 123213817], [123219361, 123219540], [123221406, 123221528], [123247232, 123247321], [123301058, 123301176], [123303719, 123304032]]	[[123213734, 123213817], [123219361, 123219540], [123221406, 123221528], [123247232, 123247280]]

Promoter

Chrom	Start	End	Description
chr3	123303871	123303908	CAGE_peak_1_at_PTPLB_5end
chr3	123303912	123303931	CAGE_peak_2_at_PTPLB_5end
chr3	123303932	123303958	CAGE_peak_3_at_PTPLB_5end
chr3	123304017	123304040	CAGE_peak_6_at_PTPLB_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I123640	123640734	123640963	0.58	[{'connected_gene': 'ROPN1', 'score': 9.19}, {'connected_gene': 'HACD2', 'score': 5.3}, {'connected_gene': 'PIR59914', 'score': 0.44}, {'connected_gene': 'MYLK-AS2', 'score': 0.25}, {'connected_gene': 'MYLK-AS1', 'score': 0.22}, {'connected_gene': 'MYLK', 'score': 0.07}]
chr3	GH03I123617	123617495	123622580	1.69	[{'connected_gene': 'MYLK', 'score': 550.07}, {'connected_gene': 'HACD2', 'score': 18.64}, {'connected_gene': 'MYLK-AS1', 'score': 11.67}, {'connected_gene': 'GC03M123611', 'score': 0.44}, {'connected_gene': 'PIR59914', 'score': 0.39}]
chr3	GH03I123652	123652396	123654662	1.54	[{'connected_gene': 'MYLK', 'score': 13.38}, {'connected_gene': 'MYLK-AS2', 'score': 12.23}, {'connected_gene': 'HACD2', 'score': 10.77}, {'connected_gene': 'MYLK-AS1', 'score': 10.77}, {'connected_gene': 'ROPN1', 'score': 8.82}, {'connected_gene': 'PIR59914', 'score': 0.34}]
chr3	GH03I123641	123641112	123642917	1.33	[{'connected_gene': 'HACD2', 'score': 9.4}, {'connected_gene': 'ROPN1', 'score': 9.19}, {'connected_gene': 'PIR59914', 'score': 0.39}, {'connected_gene': 'MYLK-AS2', 'score': 0.25}, {'connected_gene': 'MYLK-AS1', 'score': 0.22}, {'connected_gene': 'MYLK', 'score': 0.07}]
chr3	GH03I123600	123600546	123603123	1.12	[{'connected_gene': 'HACD2', 'score': 7.56}, {'connected_gene': 'ADCY5', 'score': 1.51}, {'connected_gene': 'GC03P123593', 'score': 0.44}, {'connected_gene': 'GC03P123611', 'score': 0.44}, {'connected_gene': 'MYLK-AS1', 'score': 0.37}]
chr3	GH03I123489	123489247	123489744	0.64	[{'connected_gene': 'HACD2', 'score': 4.56}, {'connected_gene': 'GC03M123491', 'score': 0.77}, {'connected_gene': 'ADCY5', 'score': 0.28}, {'connected_gene': 'GC03P123375', 'score': 0.14}]
chr3	GH03I123317	123317915	123319169	0.2	[{'connected_gene': 'HACD2', 'score': 4.47}, {'connected_gene': 'PIR43483', 'score': 0.39}, {'connected_gene': 'PIR42823', 'score': 0.31}, {'connected_gene': 'ADCY5', 'score': 0.12}]
chr3	GH03I123636	123636069	123638138	0.92	[{'connected_gene': 'HACD2', 'score': 17.7}, {'connected_gene': 'MYLK-AS2', 'score': 11.14}, {'connected_gene': 'MYLK', 'score': 10.97}, {'connected_gene': 'MYLK-AS1', 'score': 10.95}, {'connected_gene': 'ROPN1', 'score': 9.19}, {'connected_gene': 'PIR59914', 'score': 0.44}]
chr3	GH03I123646	123646326	123651218	0.43	[{'connected_gene': 'HACD2', 'score': 18.4}, {'connected_gene': 'MYLK-AS2', 'score': 12.24}, {'connected_gene': 'MYLK', 'score': 12.05}, {'connected_gene': 'MYLK-AS1', 'score': 10.78}, {'connected_gene': 'PIR59914', 'score': 0.37}]
chr3	GH03I123622	123622764	123625298	0.59	[{'connected_gene': 'HACD2', 'score': 16.62}, {'connected_gene': 'MYLK-AS1', 'score': 11.13}, {'connected_gene': 'PIR59914', 'score': 0.44}, {'connected_gene': 'GC03M123611', 'score': 0.39}, {'connected_gene': 'MYLK', 'score': 0.07}]
chr3	GH03I123581	123581993	123588530	2.56	[{'connected_gene': 'HACD2', 'score': 558.81}, {'connected_gene': 'MYLK-AS1', 'score': 550.77}, {'connected_gene': 'ADCY5', 'score': 9.68}, {'connected_gene': 'GC03P123375', 'score': 0.08}]
chr3	GH03I123633	123633614	123635694	0.97	[{'connected_gene': 'HACD2', 'score': 10.96}, {'connected_gene': 'MYLK-AS1', 'score': 10.96}, {'connected_gene': 'PIR59914', 'score': 0.77}, {'connected_gene': 'MYLK-AS2', 'score': 0.23}, {'connected_gene': 'MYLK', 'score': 0.07}]
chr3	GH03I123603	123603989	123607293	1.62	[{'connected_gene': 'HACD2', 'score': 7.71}, {'connected_gene': 'GC03P123611', 'score': 0.44}, {'connected_gene': 'GC03P123593', 'score': 0.39}, {'connected_gene': 'MYLK-AS1', 'score': 0.34}]
chr3	GH03I123576	123576401	123576600	0.52	[{'connected_gene': 'HACD2', 'score': 0.44}, {'connected_gene': 'GC03M123491', 'score': 0.18}, {'connected_gene': 'GC03P123375', 'score': 0.08}]
chr3	GH03I123571	123571454	123571603	0.49	[{'connected_gene': 'ADCY5', 'score': 9.88}, {'connected_gene': 'HACD2', 'score': 0.39}, {'connected_gene': 'GC03M123491', 'score': 0.18}, {'connected_gene': 'GC03P123375', 'score': 0.08}]
chr3	GH03I123546	123546534	123546663	0.38	[{'connected_gene': 'ADCY5', 'score': 10.9}, {'connected_gene': 'HACD2', 'score': 0.28}, {'connected_gene': 'GC03M123491', 'score': 0.23}, {'connected_gene': 'GC03P123375', 'score': 0.09}]
chr3	GH03I123545	123545031	123545117	0.28	[{'connected_gene': 'ADCY5', 'score': 12.09}, {'connected_gene': 'HACD2', 'score': 0.26}, {'connected_gene': 'GC03M123491', 'score': 0.23}, {'connected_gene': 'GC03P123375', 'score': 0.1}]
chr3	GH03I123523	123523001	123523600	0.43	[{'connected_gene': 'ADCY5', 'score': 10.77}, {'connected_gene': 'GC03M123491', 'score': 0.29}, {'connected_gene': 'HACD2', 'score': 0.21}, {'connected_gene': 'GC03P123375', 'score': 0.11}]
chr3	GH03I123651	123651530	123652032	0.31	[{'connected_gene': 'MYLK-AS2', 'score': 12.23}, {'connected_gene': 'MYLK', 'score': 12.03}, {'connected_gene': 'HACD2', 'score': 10.77}, {'connected_gene': 'MYLK-AS1', 'score': 10.77}, {'connected_gene': 'PIR59914', 'score': 0.34}]
chr3	GH03I123656	123656917	123663283	1.31	[{'connected_gene': 'MYLK-AS2', 'score': 12.55}, {'connected_gene': 'MYLK', 'score': 12.32}, {'connected_gene': 'HACD2', 'score': 6.39}, {'connected_gene': 'PIR59914', 'score': 0.31}]
chr3	GH03I123627	123627836	123631232	0.49	[{'connected_gene': 'PIR59914', 'score': 550.77}, {'connected_gene': 'HACD2', 'score': 22.17}, {'connected_gene': 'SEC22A', 'score': 12.33}, {'connected_gene': 'MYLK-AS2', 'score': 11.68}, {'connected_gene': 'MYLK', 'score': 11.54}, {'connected_gene': 'MYLK-AS1', 'score': 11.22}, {'connected_gene': 'GC03M123611', 'score': 0.37}]
chr3	GH03I123610	123610494	123610643	0.63	[{'connected_gene': 'GC03M123611', 'score': 550.77}, {'connected_gene': 'GC03P123611', 'score': 550.77}, {'connected_gene': 'HACD2', 'score': 12.01}, {'connected_gene': 'MYLK-AS1', 'score': 12.01}, {'connected_gene': 'GC03P123593', 'score': 0.37}, {'connected_gene': 'MYLK', 'score': 0.06}]
chr3	GH03I123631	123631696	123633581	1.06	[{'connected_gene': 'PIR59914', 'score': 550.77}, {'connected_gene': 'HACD2', 'score': 21.23}, {'connected_gene': 'MYLK-AS1', 'score': 10.96}, {'connected_gene': 'ADCY5', 'score': 1.89}, {'connected_gene': 'MYLK-AS2', 'score': 0.22}, {'connected_gene': 'MYLK', 'score': 0.07}]