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
ENST00000608404	[[19627035, 19627141], [19636990, 19637069], [19638089, 19638161], [19638509, 19638579], [19645842, 19645953], [19646145, 19646259], [19646337, 19646885]]	[[19627047, 19627141], [19636990, 19637069], [19638089, 19638161], [19638509, 19638579], [19645842, 19645953], [19646145, 19646259], [19646337, 19646619]]
ENST00000436027	[[19639669, 19639800], [19643440, 19643549], [19645842, 19645953], [19646145, 19646259], [19646337, 19646488], [19648127, 19648389]]	[[19639741, 19639800], [19643440, 19643549], [19645842, 19645953], [19646145, 19646259], [19646337, 19646488], [19648127, 19648333]]
ENST00000458210	[[19639690, 19639800], [19643440, 19643549], [19643912, 19645953], [19646145, 19646259], [19646337, 19646488], [19648127, 19648387]]	None
ENST00000514277	[[19639703, 19639800], [19640172, 19640322], [19643440, 19643549], [19645842, 19645953], [19646145, 19646259], [19646337, 19646488], [19648127, 19648390]]	[[19639741, 19639800], [19640172, 19640322], [19643440, 19643549], [19645842, 19645953], [19646145, 19646259], [19646337, 19646488], [19648127, 19648333]]
NM_001190328	[[19639669, 19639800], [19643440, 19643549], [19645842, 19645953], [19646145, 19646259], [19646337, 19646488], [19648127, 19648393]]	[[19639741, 19639800], [19643440, 19643549], [19645842, 19645953], [19646145, 19646259], [19646337, 19646488], [19648127, 19648333]]
NM_198537	[[19639669, 19639800], [19640172, 19640322], [19643440, 19643549], [19645842, 19645953], [19646145, 19646259], [19646337, 19646488], [19648127, 19648393]]	[[19639741, 19639800], [19640172, 19640322], [19643440, 19643549], [19645842, 19645953], [19646145, 19646259], [19646337, 19646488], [19648127, 19648333]]

Promoter

Chrom	Start	End	Description
chr19	19627026	19627049	CAGE_peak_1_at_NDUFA13_5end,CAGE_peak_1_at_YJEFN3_5end
chr19	19639679	19639690	CAGE_peak_4_at_YJEFN3_5end
chr19	19639710	19639727	CAGE_peak_2_at_YJEFN3_5end
chr19	19644792	19644800	CAGE_peak_6_at_YJEFN3_5end
chr19	19644886	19644897	CAGE_peak_9_at_YJEFN3_5end
chr19	19644945	19644969	CAGE_peak_3_at_YJEFN3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I019224	19224283	19225943	1.16	[{'connected_gene': 'UPF1', 'score': 18.66}, {'connected_gene': 'ATP13A1', 'score': 17.0}, {'connected_gene': 'IQCN', 'score': 15.29}, {'connected_gene': 'ENSG00000268030', 'score': 14.95}, {'connected_gene': 'ENSG00000268938', 'score': 14.59}, {'connected_gene': 'NR2C2AP', 'score': 12.57}, {'connected_gene': 'MAU2', 'score': 11.91}, {'connected_gene': 'ENSG00000269191', 'score': 11.45}, {'connected_gene': 'ELL', 'score': 10.59}, {'connected_gene': 'GATAD2A', 'score': 9.93}, {'connected_gene': 'ZNF90', 'score': 9.79}, {'connected_gene': 'YJEFN3', 'score': 5.49}, {'connected_gene': 'RNU6-1028P', 'score': 0.44}, {'connected_gene': 'NCAN', 'score': 0.39}]
chr19	GH19I019402	19402800	19408068	2.56	[{'connected_gene': 'GATAD2A', 'score': 580.59}, {'connected_gene': 'NDUFA13', 'score': 36.06}, {'connected_gene': 'ENSG00000268030', 'score': 18.23}, {'connected_gene': 'UPF1', 'score': 17.7}, {'connected_gene': 'ATP13A1', 'score': 15.79}, {'connected_gene': 'ENSG00000268938', 'score': 14.69}, {'connected_gene': 'ELL', 'score': 13.68}, {'connected_gene': 'MAU2', 'score': 13.1}, {'connected_gene': 'ENSG00000269191', 'score': 12.17}, {'connected_gene': 'TM6SF2', 'score': 11.36}, {'connected_gene': 'BNIP3P16', 'score': 10.75}, {'connected_gene': 'ZNF90', 'score': 10.42}, {'connected_gene': 'NR2C2AP', 'score': 10.13}, {'connected_gene': 'YJEFN3', 'score': 4.87}, {'connected_gene': 'GMIP', 'score': 3.09}, {'connected_gene': 'HOMER3', 'score': 1.79}, {'connected_gene': 'RFXANK', 'score': 1.49}, {'connected_gene': 'ENSG00000267234', 'score': 0.77}, {'connected_gene': 'GC19P019700', 'score': 0.31}]
chr19	GH19I019364	19364173	19365681	1.24	[{'connected_gene': 'GATAD2A', 'score': 14.38}, {'connected_gene': 'MAU2', 'score': 8.21}, {'connected_gene': 'YJEFN3', 'score': 4.81}, {'connected_gene': 'GC19P020007', 'score': 0.44}, {'connected_gene': 'PIR49867', 'score': 0.44}, {'connected_gene': 'GC19P020252', 'score': 0.39}, {'connected_gene': 'GC19P020224', 'score': 0.37}]
chr19	GH19I019484	19484807	19491145	1.72	[{'connected_gene': 'GATAD2A', 'score': 24.02}, {'connected_gene': 'NR2C2AP', 'score': 15.03}, {'connected_gene': 'ZNF90', 'score': 13.32}, {'connected_gene': 'ENSG00000268030', 'score': 12.34}, {'connected_gene': 'TMEM161A', 'score': 10.74}, {'connected_gene': 'ATP13A1', 'score': 10.32}, {'connected_gene': 'ENSG00000267481', 'score': 10.2}, {'connected_gene': 'YJEFN3', 'score': 4.98}, {'connected_gene': 'TM6SF2', 'score': 4.0}, {'connected_gene': 'RFXANK', 'score': 3.05}, {'connected_gene': 'GMIP', 'score': 2.63}, {'connected_gene': 'PBX4', 'score': 1.91}, {'connected_gene': 'MAU2', 'score': 1.78}, {'connected_gene': 'GC19M019490', 'score': 0.39}, {'connected_gene': 'PIR48619', 'score': 0.39}]
chr19	GH19I019515	19515451	19517412	2.04	[{'connected_gene': 'NDUFA13', 'score': 586.7}, {'connected_gene': 'TSSK6', 'score': 550.77}, {'connected_gene': 'ENSG00000258674', 'score': 550.77}, {'connected_gene': 'PIR50534', 'score': 550.77}, {'connected_gene': 'GATAD2A', 'score': 8.01}, {'connected_gene': 'YJEFN3', 'score': 0.39}]
chr19	GH19I019449	19449959	19453672	1.28	[{'connected_gene': 'NDUFA13', 'score': 36.14}, {'connected_gene': 'GATAD2A', 'score': 22.8}, {'connected_gene': 'GMIP', 'score': 20.22}, {'connected_gene': 'YJEFN3', 'score': 4.93}, {'connected_gene': 'MAU2', 'score': 4.92}, {'connected_gene': 'RFXANK', 'score': 2.92}, {'connected_gene': 'BORCS8', 'score': 1.86}, {'connected_gene': 'GC19P019843', 'score': 0.37}, {'connected_gene': 'PIR48619', 'score': 0.34}]
chr19	GH19I019532	19532059	19532981	0.84	[{'connected_gene': 'NDUFA13', 'score': 36.3}, {'connected_gene': 'GATAD2A', 'score': 14.33}, {'connected_gene': 'ZNF506', 'score': 11.54}, {'connected_gene': 'ZNF14', 'score': 11.11}, {'connected_gene': 'YJEFN3', 'score': 0.77}, {'connected_gene': 'GC19M019535', 'score': 0.77}, {'connected_gene': 'ENSG00000258674', 'score': 0.37}]
chr19	GH19I019443	19443653	19448599	1.3	[{'connected_gene': 'NDUFA13', 'score': 36.13}, {'connected_gene': 'GATAD2A', 'score': 14.58}, {'connected_gene': 'YJEFN3', 'score': 4.92}, {'connected_gene': 'LINC00663', 'score': 4.33}, {'connected_gene': 'GC19P019843', 'score': 0.39}, {'connected_gene': 'PIR48619', 'score': 0.31}]
chr19	GH19I019333	19333893	19335240	0.4	[{'connected_gene': 'HAPLN4', 'score': 12.04}, {'connected_gene': 'RFXANK', 'score': 11.24}, {'connected_gene': 'BORCS8-MEF2B', 'score': 11.24}, {'connected_gene': 'BORCS8', 'score': 11.24}, {'connected_gene': 'MEF2B', 'score': 11.23}, {'connected_gene': 'MAU2', 'score': 8.17}, {'connected_gene': 'YJEFN3', 'score': 4.58}, {'connected_gene': 'GC19M019332', 'score': 0.44}, {'connected_gene': 'SUGP1', 'score': 0.39}]
chr19	GH19I019530	19530512	19530661	0.46	[{'connected_gene': 'YJEFN3', 'score': 550.77}, {'connected_gene': 'PBX4', 'score': 11.95}, {'connected_gene': 'LPAR2', 'score': 11.94}, {'connected_gene': 'GMIP', 'score': 11.92}, {'connected_gene': 'ATP13A1', 'score': 11.9}, {'connected_gene': 'GC19M019535', 'score': 0.44}, {'connected_gene': 'ENSG00000258674', 'score': 0.39}]
chr19	GH19I019528	19528862	19528921	0.68	[{'connected_gene': 'YJEFN3', 'score': 550.77}, {'connected_gene': 'GC19M019535', 'score': 0.44}, {'connected_gene': 'ENSG00000258674', 'score': 0.39}, {'connected_gene': 'NDUFA13', 'score': 0.39}]
chr19	GH19I019319	19319600	19322201	2.01	[{'connected_gene': 'MAU2', 'score': 564.64}, {'connected_gene': 'SUGP1', 'score': 552.15}, {'connected_gene': 'GATAD2A', 'score': 23.84}, {'connected_gene': 'ATP13A1', 'score': 15.13}, {'connected_gene': 'ENSG00000268938', 'score': 14.44}, {'connected_gene': 'ZNF506', 'score': 13.8}, {'connected_gene': 'ZNF14', 'score': 13.67}, {'connected_gene': 'MEF2B', 'score': 13.49}, {'connected_gene': 'NR2C2AP', 'score': 13.16}, {'connected_gene': 'ENSG00000268030', 'score': 12.36}, {'connected_gene': 'GMIP', 'score': 11.66}, {'connected_gene': 'ENSG00000267481', 'score': 10.94}, {'connected_gene': 'UPF1', 'score': 10.76}, {'connected_gene': 'ENSG00000269191', 'score': 10.6}, {'connected_gene': 'KXD1', 'score': 10.56}, {'connected_gene': 'YJEFN3', 'score': 4.57}, {'connected_gene': 'PBX4', 'score': 2.82}, {'connected_gene': 'NCAN', 'score': 2.22}, {'connected_gene': 'SUGP2', 'score': 1.58}, {'connected_gene': 'GC19M019332', 'score': 0.34}]
chr19	GH19I019536	19536810	19539373	1.43	[{'connected_gene': 'CILP2', 'score': 550.77}, {'connected_gene': 'GC19M019535', 'score': 550.77}, {'connected_gene': 'NDUFA13', 'score': 36.3}, {'connected_gene': 'GATAD2A', 'score': 14.51}, {'connected_gene': 'YJEFN3', 'score': 0.44}]
chr19	GH19I019374	19374705	19375620	1.25	[{'connected_gene': 'NR2C2AP', 'score': 85.75}, {'connected_gene': 'ATP13A1', 'score': 76.81}, {'connected_gene': 'ENSG00000268030', 'score': 76.76}, {'connected_gene': 'ENSG00000267481', 'score': 69.35}, {'connected_gene': 'ZNF90', 'score': 66.86}, {'connected_gene': 'UPF1', 'score': 65.19}, {'connected_gene': 'ZNF253', 'score': 46.35}, {'connected_gene': 'MAU2', 'score': 43.27}, {'connected_gene': 'SUGP2', 'score': 36.54}, {'connected_gene': 'ENSG00000268938', 'score': 36.26}, {'connected_gene': 'ZNF14', 'score': 28.68}, {'connected_gene': 'ZNF506', 'score': 28.62}, {'connected_gene': 'ENSG00000269191', 'score': 24.28}, {'connected_gene': 'ZNF56', 'score': 24.14}, {'connected_gene': 'ENSG00000267565', 'score': 18.98}, {'connected_gene': 'TMEM161A', 'score': 11.1}, {'connected_gene': 'BNIP3P16', 'score': 10.9}, {'connected_gene': 'LINC00663', 'score': 10.69}, {'connected_gene': 'MEF2B', 'score': 10.56}, {'connected_gene': 'ELL', 'score': 10.26}, {'connected_gene': 'BNIP3P15', 'score': 9.95}, {'connected_gene': 'ZNF93', 'score': 9.66}, {'connected_gene': 'YJEFN3', 'score': 5.22}, {'connected_gene': 'GC19P020224', 'score': 0.44}, {'connected_gene': 'GC19P020007', 'score': 0.37}, {'connected_gene': 'PIR49867', 'score': 0.37}]