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
ENST00000601780	[[50979656, 50979980], [50981185, 50981258], [50982213, 50982323], [50983367, 50983472], [50983837, 50984019], [50984140, 50984234], [50985117, 50985204], [50985405, 50986608]]	[[50979801, 50979930]]
ENST00000597426	[[50979752, 50979855], [50981242, 50981258], [50982213, 50982274]]	[[50979801, 50979855], [50981242, 50981258], [50982213, 50982274]]
ENST00000334976	[[50979755, 50979915], [50981185, 50981258], [50982213, 50982323], [50983367, 50983472], [50983837, 50984019], [50984140, 50984234], [50985405, 50986585]]	[[50979801, 50979915], [50981185, 50981258], [50982213, 50982323], [50983367, 50983472], [50983837, 50984019], [50984140, 50984234], [50985405, 50985516]]
ENST00000376918	[[50979755, 50979915], [50981185, 50981258], [50982213, 50982323], [50983367, 50983472], [50983837, 50984019], [50984140, 50984234], [50985117, 50985204], [50985405, 50986608]]	[[50979801, 50979915], [50981185, 50981258], [50982213, 50982323], [50983367, 50983472], [50983837, 50984019], [50984140, 50984234], [50985117, 50985204]]
ENST00000598585	[[50979777, 50979915], [50981185, 50981258], [50982213, 50982323], [50983367, 50983472], [50983837, 50984019], [50984140, 50984234], [50985405, 50985512], [50985654, 50986455]]	[[50979801, 50979915], [50981185, 50981258], [50982213, 50982323], [50983367, 50983472], [50983837, 50984019], [50984140, 50984234], [50985405, 50985512], [50985654, 50985985]]
ENST00000599293	[[50979790, 50979980], [50981185, 50981258], [50982213, 50982323], [50983367, 50983472], [50983837, 50984019], [50984140, 50984234], [50985405, 50986577]]	[[50979801, 50979930]]
ENST00000597799	[[50980199, 50980478], [50981185, 50981258], [50982213, 50982323]]	[[50980395, 50980478], [50981185, 50981258], [50982213, 50982323]]
ENST00000594508	[[50984346, 50985205]]	None
NM_206538	[[50979733, 50979915], [50981185, 50981258], [50982213, 50982323], [50983367, 50983472], [50983837, 50984019], [50984140, 50984234], [50985405, 50986783]]	[[50979801, 50979915], [50981185, 50981258], [50982213, 50982323], [50983367, 50983472], [50983837, 50984019], [50984140, 50984234], [50985405, 50985516]]
NM_175063	[[50979733, 50979915], [50981185, 50981258], [50982213, 50982323], [50983367, 50983472], [50983837, 50984019], [50984140, 50984234], [50985117, 50985204], [50985405, 50986783]]	[[50979801, 50979915], [50981185, 50981258], [50982213, 50982323], [50983367, 50983472], [50983837, 50984019], [50984140, 50984234], [50985117, 50985204]]

Promoter

Chrom	Start	End	Description
chr19	50979727	50979749	CAGE_peak_2_at_C19orf63_5end
chr19	50979753	50979801	CAGE_peak_1_at_C19orf63_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I050720	50720488	50726224	2.32	[{'connected_gene': 'CLEC11A', 'score': 570.56}, {'connected_gene': 'C19orf48', 'score': 12.17}, {'connected_gene': 'GPR32', 'score': 12.16}, {'connected_gene': 'AKT1S1', 'score': 11.24}, {'connected_gene': 'SNORD88A', 'score': 10.93}, {'connected_gene': 'SNORD88C', 'score': 10.93}, {'connected_gene': 'SNORD88B', 'score': 10.93}, {'connected_gene': 'LINC01869', 'score': 10.7}, {'connected_gene': 'NUP62', 'score': 10.4}, {'connected_gene': 'KLK1', 'score': 10.36}, {'connected_gene': 'KLK15', 'score': 10.35}, {'connected_gene': 'EMC10', 'score': 5.82}, {'connected_gene': 'KLK8', 'score': 4.82}, {'connected_gene': 'SHANK1', 'score': 4.19}, {'connected_gene': 'GPR32P1', 'score': 0.29}]
chr19	GH19I050459	50459697	50461953	1.12	[{'connected_gene': 'PRR12', 'score': 13.29}, {'connected_gene': 'ASPDH', 'score': 6.88}, {'connected_gene': 'ETFB', 'score': 4.67}, {'connected_gene': 'EMC10', 'score': 0.37}, {'connected_gene': 'MYBPC2', 'score': 0.31}]
chr19	GH19I050496	50496291	50502403	1.65	[{'connected_gene': 'PRR12', 'score': 64.96}, {'connected_gene': 'ENSG00000268047', 'score': 25.82}, {'connected_gene': 'NUP62', 'score': 23.81}, {'connected_gene': 'CTU1', 'score': 22.97}, {'connected_gene': 'POLD1', 'score': 13.26}, {'connected_gene': 'ADM5', 'score': 11.5}, {'connected_gene': 'PTOV1', 'score': 11.49}, {'connected_gene': 'PRMT1', 'score': 11.36}, {'connected_gene': 'AKT1S1', 'score': 11.24}, {'connected_gene': 'PTOV1-AS2', 'score': 11.19}, {'connected_gene': 'SCAF1', 'score': 10.89}, {'connected_gene': 'JOSD2', 'score': 9.84}, {'connected_gene': 'ZNF473', 'score': 9.77}, {'connected_gene': 'ASPDH', 'score': 8.04}, {'connected_gene': 'MYH14', 'score': 4.03}, {'connected_gene': 'MYBPC2', 'score': 2.02}, {'connected_gene': 'LOC100506114', 'score': 0.39}, {'connected_gene': 'EMC10', 'score': 0.34}]
chr19	GH19I050445	50445020	50445350	0.22	[{'connected_gene': 'ASPDH', 'score': 6.4}, {'connected_gene': 'C19orf81', 'score': 2.82}, {'connected_gene': 'KLK4', 'score': 2.07}, {'connected_gene': 'MYBPC2', 'score': 0.39}, {'connected_gene': 'EMC10', 'score': 0.29}]
chr19	GH19I050465	50465312	50467670	0.89	[{'connected_gene': 'ASPDH', 'score': 8.52}, {'connected_gene': 'FAM71E1', 'score': 6.33}, {'connected_gene': 'EMC10', 'score': 0.44}, {'connected_gene': 'MYBPC2', 'score': 0.29}]
chr19	GH19I050494	50494508	50495756	0.64	[{'connected_gene': 'ASPDH', 'score': 7.54}, {'connected_gene': 'LOC100506114', 'score': 0.44}, {'connected_gene': 'EMC10', 'score': 0.37}, {'connected_gene': 'JOSD2', 'score': 0.37}]
chr19	GH19I050466	50465004	50465153	0.43	[{'connected_gene': 'EMC10', 'score': 0.39}, {'connected_gene': 'MYBPC2', 'score': 0.29}]
chr19	GH19I050488	50488201	50492824	1.45	[{'connected_gene': 'SNORD35A', 'score': 45.37}, {'connected_gene': 'POLD1', 'score': 43.54}, {'connected_gene': 'NUP62', 'score': 35.99}, {'connected_gene': 'PTOV1-AS2', 'score': 35.63}, {'connected_gene': 'SNORD35B', 'score': 31.91}, {'connected_gene': 'PRR12', 'score': 26.14}, {'connected_gene': 'IRF3', 'score': 25.47}, {'connected_gene': 'RPS11', 'score': 22.58}, {'connected_gene': 'ENSG00000268047', 'score': 14.29}, {'connected_gene': 'PNKP', 'score': 13.96}, {'connected_gene': 'CTU1', 'score': 13.66}, {'connected_gene': 'ADM5', 'score': 11.5}, {'connected_gene': 'SIGLEC17P', 'score': 10.5}, {'connected_gene': 'ZNF473', 'score': 9.77}, {'connected_gene': 'ASPDH', 'score': 8.85}, {'connected_gene': 'LOC100506114', 'score': 7.24}, {'connected_gene': 'MYBPC2', 'score': 5.12}, {'connected_gene': 'MYH14', 'score': 3.95}, {'connected_gene': 'EMC10', 'score': 0.39}, {'connected_gene': 'JOSD2', 'score': 0.34}]
chr19	GH19I050410	50410280	50411620	0.54	[{'connected_gene': 'NAPSB', 'score': 23.62}, {'connected_gene': 'NAPSA', 'score': 12.4}, {'connected_gene': 'NR1H2', 'score': 12.31}, {'connected_gene': 'FAM71E1', 'score': 11.73}, {'connected_gene': 'EMC10', 'score': 11.73}, {'connected_gene': 'ENSG00000142539', 'score': 0.77}, {'connected_gene': 'GC19P050397', 'score': 0.39}, {'connected_gene': 'POLD1', 'score': 0.31}]
chr19	GH19I050346	50346075	50349983	1.09	[{'connected_gene': 'NAPSB', 'score': 71.96}, {'connected_gene': 'KCNC3', 'score': 22.81}, {'connected_gene': 'NAPSA', 'score': 12.79}, {'connected_gene': 'POLD1', 'score': 11.81}, {'connected_gene': 'JOSD2', 'score': 11.29}, {'connected_gene': 'ASPDH', 'score': 11.19}, {'connected_gene': 'FAM71E1', 'score': 11.09}, {'connected_gene': 'EMC10', 'score': 11.09}, {'connected_gene': 'KLK2', 'score': 9.56}, {'connected_gene': 'NR1H2', 'score': 0.37}, {'connected_gene': 'LOC105372437', 'score': 0.37}, {'connected_gene': 'ENSG00000269392', 'score': 0.34}]
chr19	GH19I050493	50493057	50494129	0.31	[{'connected_gene': 'JOSD2', 'score': 9.87}, {'connected_gene': 'ASPDH', 'score': 7.64}, {'connected_gene': 'LOC100506114', 'score': 0.44}, {'connected_gene': 'EMC10', 'score': 0.37}]
chr19	GH19I050475	50475384	50477540	2.02	[{'connected_gene': 'FAM71E1', 'score': 550.77}, {'connected_gene': 'EMC10', 'score': 550.77}, {'connected_gene': 'ASPDH', 'score': 7.4}]
chr19	GH19I050486	50486964	50487173	0.82	[{'connected_gene': 'LOC100506114', 'score': 550.77}, {'connected_gene': 'GC19P050484', 'score': 0.77}, {'connected_gene': 'EMC10', 'score': 0.39}]
chr19	GH19I050482	50482375	50483992	0.2	[{'connected_gene': 'ENSG00000268854', 'score': 550.77}, {'connected_gene': 'GC19P050484', 'score': 550.77}, {'connected_gene': 'NAPSA', 'score': 11.79}, {'connected_gene': 'NR1H2', 'score': 11.75}, {'connected_gene': 'CLEC11A', 'score': 9.7}, {'connected_gene': 'ASPDH', 'score': 6.88}, {'connected_gene': 'GC19P050481', 'score': 0.77}, {'connected_gene': 'EMC10', 'score': 0.44}]
chr19	GH19I050479	50479168	50479853	1	[{'connected_gene': 'GC19P050481', 'score': 550.77}, {'connected_gene': 'NAPSA', 'score': 11.79}, {'connected_gene': 'NR1H2', 'score': 11.76}, {'connected_gene': 'CLEC11A', 'score': 9.7}, {'connected_gene': 'LOC100506114', 'score': 6.06}, {'connected_gene': 'FAM71E1', 'score': 0.77}, {'connected_gene': 'EMC10', 'score': 0.77}]
chr19	GH19I050484	50484867	50486177	0.31	[{'connected_gene': 'GC19P050484', 'score': 550.77}, {'connected_gene': 'LOC100506114', 'score': 6.9}, {'connected_gene': 'EMC10', 'score': 0.44}]