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
ENST00000425202	[[51152701, 51152768], [51159306, 51159379], [51159482, 51159603], [51161245, 51161385], [51162203, 51162562]]	[[51152701, 51152768], [51159306, 51159379], [51159482, 51159603], [51161245, 51161385], [51162203, 51162399]]
ENST00000458538	[[51153044, 51153054], [51159306, 51159379], [51159482, 51159603], [51161245, 51161385], [51162203, 51162352]]	[[51159317, 51159379], [51159482, 51159603], [51161245, 51161385], [51162203, 51162352]]
ENST00000490451	[[51161752, 51161865], [51162203, 51162567]]	None
NM_001195076	[[51152701, 51152768], [51159306, 51159379], [51159482, 51159603], [51161245, 51161385], [51162203, 51162567]]	[[51152701, 51152768], [51159306, 51159379], [51159482, 51159603], [51161245, 51161385], [51162203, 51162399]]

Promoter

Chrom	Start	End	Description
chr19	51161738	51161759	CAGE_peak_1_at_C19orf81_5end
chr19	51161782	51161805	CAGE_peak_4_at_C19orf81_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I050657	50657515	50660407	1.58	[{'connected_gene': 'SYT3', 'score': 550.77}, {'connected_gene': 'POLD1', 'score': 70.78}, {'connected_gene': 'NUP62', 'score': 68.69}, {'connected_gene': 'PTOV1-AS2', 'score': 50.68}, {'connected_gene': 'IRF3', 'score': 46.35}, {'connected_gene': 'ZNF175', 'score': 40.29}, {'connected_gene': 'PNKP', 'score': 31.22}, {'connected_gene': 'ENSG00000268047', 'score': 26.92}, {'connected_gene': 'ZNF473', 'score': 22.26}, {'connected_gene': 'CTU1', 'score': 19.81}, {'connected_gene': 'C19orf81', 'score': 16.15}, {'connected_gene': 'CPT1C', 'score': 15.07}, {'connected_gene': 'TSKS', 'score': 14.52}, {'connected_gene': 'ENSG00000267808', 'score': 13.8}, {'connected_gene': 'VRK3', 'score': 12.22}, {'connected_gene': 'C19orf48', 'score': 12.18}, {'connected_gene': 'PTOV1', 'score': 10.58}, {'connected_gene': 'MED25', 'score': 10.08}, {'connected_gene': 'ADM5', 'score': 9.87}, {'connected_gene': 'PIR41386', 'score': 0.26}, {'connected_gene': 'SHANK1', 'score': 0.21}]
chr19	GH19I050640	50639573	50640253	1.82	[{'connected_gene': 'SYT3', 'score': 556.34}, {'connected_gene': 'GC19M050639', 'score': 550.77}, {'connected_gene': 'C19orf81', 'score': 0.44}]
chr19	GH19I050637	50637935	50637994	0.73	[{'connected_gene': 'SYT3', 'score': 555.45}, {'connected_gene': 'GC19M050639', 'score': 550.77}, {'connected_gene': 'C19orf81', 'score': 0.44}]
chr19	GH19I050507	50507027	50507261	0.51	[{'connected_gene': 'ASPDH', 'score': 6.17}, {'connected_gene': 'KLKP1', 'score': 4.87}, {'connected_gene': 'C19orf81', 'score': 3.63}, {'connected_gene': 'KLK4', 'score': 3.47}, {'connected_gene': 'ACP4', 'score': 1.5}, {'connected_gene': 'SHANK1', 'score': 1.46}, {'connected_gene': 'SYT3', 'score': 1.27}, {'connected_gene': 'JOSD2', 'score': 0.77}, {'connected_gene': 'LOC100506114', 'score': 0.37}]
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	GH19I050653	50653724	50653873	0.71	[{'connected_gene': 'POLD1', 'score': 14.71}, {'connected_gene': 'ZNF175', 'score': 11.6}, {'connected_gene': 'IRF3', 'score': 11.4}, {'connected_gene': 'NUP62', 'score': 10.92}, {'connected_gene': 'SIGLEC17P', 'score': 10.9}, {'connected_gene': 'SYT3', 'score': 0.77}, {'connected_gene': 'GC19M050639', 'score': 0.39}, {'connected_gene': 'C19orf81', 'score': 0.34}]
chr19	GH19I050649	50649401	50650273	1.18	[{'connected_gene': 'POLD1', 'score': 46.78}, {'connected_gene': 'IRF3', 'score': 35.93}, {'connected_gene': 'NUP62', 'score': 32.09}, {'connected_gene': 'PRMT1', 'score': 28.22}, {'connected_gene': 'ENSG00000268047', 'score': 25.22}, {'connected_gene': 'SIGLEC17P', 'score': 24.1}, {'connected_gene': 'BCL2L12', 'score': 23.9}, {'connected_gene': 'PTOV1', 'score': 20.32}, {'connected_gene': 'ENSG00000267808', 'score': 19.76}, {'connected_gene': 'CPT1C', 'score': 17.5}, {'connected_gene': 'LRRC4B', 'score': 15.99}, {'connected_gene': 'PTOV1-AS2', 'score': 14.75}, {'connected_gene': 'PNKP', 'score': 13.96}, {'connected_gene': 'ZNF473', 'score': 11.49}, {'connected_gene': 'SHANK1', 'score': 10.83}, {'connected_gene': 'SIGLEC6', 'score': 10.66}, {'connected_gene': 'ENSG00000268231', 'score': 10.38}, {'connected_gene': 'MED25', 'score': 10.08}, {'connected_gene': 'ADM5', 'score': 9.93}, {'connected_gene': 'ETFB', 'score': 5.11}, {'connected_gene': 'SYT3', 'score': 0.44}, {'connected_gene': 'GC19M050639', 'score': 0.39}, {'connected_gene': 'C19orf81', 'score': 0.37}]
chr19	GH19I050383	50383048	50386200	2.28	[{'connected_gene': 'POLD1', 'score': 568.86}, {'connected_gene': 'C19orf81', 'score': 18.83}, {'connected_gene': 'PTOV1-AS2', 'score': 16.94}, {'connected_gene': 'NUP62', 'score': 16.15}, {'connected_gene': 'PNKP', 'score': 15.89}, {'connected_gene': 'SNORD35A', 'score': 15.22}, {'connected_gene': 'SNORD35B', 'score': 14.24}, {'connected_gene': 'IRF3', 'score': 13.84}, {'connected_gene': 'ALDH16A1', 'score': 13.57}, {'connected_gene': 'SIGLEC17P', 'score': 11.97}, {'connected_gene': 'NAPSB', 'score': 10.65}, {'connected_gene': 'ACP4', 'score': 8.25}, {'connected_gene': 'GC19P050397', 'score': 0.39}]
chr19	GH19I050663	50663741	50664139	0.55	[{'connected_gene': 'KLK14', 'score': 2.28}, {'connected_gene': 'SYT3', 'score': 2.18}, {'connected_gene': 'KLK6', 'score': 2.06}, {'connected_gene': 'C19orf81', 'score': 1.96}, {'connected_gene': 'KLK4', 'score': 1.57}, {'connected_gene': 'PIR41386', 'score': 0.28}, {'connected_gene': 'SHANK1', 'score': 0.22}]
chr19	GH19I050648	50648142	50648338	0.57	[{'connected_gene': 'C19orf81', 'score': 4.61}, {'connected_gene': 'KLK4', 'score': 4.16}, {'connected_gene': 'KLK14', 'score': 1.96}, {'connected_gene': 'KCNC3', 'score': 1.84}, {'connected_gene': 'SYT3', 'score': 1.65}, {'connected_gene': 'ACP4', 'score': 1.32}, {'connected_gene': 'GC19M050639', 'score': 0.44}]
chr19	GH19I050650	50649299	50649358	0.73	[{'connected_gene': 'C19orf81', 'score': 550.37}, {'connected_gene': 'SYT3', 'score': 0.44}, {'connected_gene': 'GC19M050639', 'score': 0.44}]
chr19	GH19I050335	50335769	50336132	0.57	[{'connected_gene': 'C19orf81', 'score': 3.56}, {'connected_gene': 'KCNC3', 'score': 2.07}, {'connected_gene': 'SYT3', 'score': 1.7}, {'connected_gene': 'ACP4', 'score': 1.43}, {'connected_gene': 'NR1H2', 'score': 0.44}, {'connected_gene': 'NAPSB', 'score': 0.44}, {'connected_gene': 'LOC105372437', 'score': 0.44}]
chr19	GH19I051131	51131613	51133000	1.53	[{'connected_gene': 'SIGLEC9', 'score': 18.2}, {'connected_gene': 'CTU1', 'score': 11.59}, {'connected_gene': 'SIGLEC10', 'score': 5.88}, {'connected_gene': 'C19orf81', 'score': 5.52}, {'connected_gene': 'SIGLEC17P', 'score': 5.36}, {'connected_gene': 'SIGLEC7', 'score': 2.71}, {'connected_gene': 'CD33', 'score': 1.71}, {'connected_gene': 'SIGLEC12', 'score': 1.38}, {'connected_gene': 'ENSG00000267990', 'score': 0.44}]
chr19	GH19I051121	51121002	51131268	2.09	[{'connected_gene': 'SIGLEC9', 'score': 565.24}, {'connected_gene': 'ZNF613', 'score': 17.43}, {'connected_gene': 'ZNF841', 'score': 11.46}, {'connected_gene': 'ZNF577', 'score': 10.89}, {'connected_gene': 'POLD1', 'score': 10.34}, {'connected_gene': 'SIGLEC18P', 'score': 6.91}, {'connected_gene': 'KLK11', 'score': 5.28}, {'connected_gene': 'CTU1', 'score': 5.17}, {'connected_gene': 'C19orf81', 'score': 5.08}, {'connected_gene': 'SIGLEC10', 'score': 4.84}, {'connected_gene': 'CD33', 'score': 2.19}, {'connected_gene': 'SIGLEC12', 'score': 2.0}, {'connected_gene': 'SIGLEC7', 'score': 1.61}, {'connected_gene': 'ENSG00000267990', 'score': 0.39}]
chr19	GH19I050608	50608084	50608313	0.89	[{'connected_gene': 'NUP62', 'score': 22.65}, {'connected_gene': 'POLD1', 'score': 17.87}, {'connected_gene': 'ENSG00000268047', 'score': 13.38}, {'connected_gene': 'PTOV1-AS2', 'score': 11.8}, {'connected_gene': 'IRF3', 'score': 11.22}, {'connected_gene': 'CTU1', 'score': 10.66}, {'connected_gene': 'PNKP', 'score': 10.16}, {'connected_gene': 'ADM5', 'score': 9.87}, {'connected_gene': 'ZNF473', 'score': 9.84}, {'connected_gene': 'SNAR-F', 'score': 0.77}, {'connected_gene': 'C19orf81', 'score': 0.34}]
chr19	GH19I051120	51120240	51120473	0.45	[{'connected_gene': 'SIGLEC18P', 'score': 550.77}, {'connected_gene': 'SIGLEC9', 'score': 6.1}, {'connected_gene': 'SIGLEC10', 'score': 1.7}, {'connected_gene': 'C19orf81', 'score': 1.58}, {'connected_gene': 'CD33', 'score': 1.42}]
chr19	GH19I050962	50962245	50962532	0.51	[{'connected_gene': 'LOC105372442', 'score': 550.77}, {'connected_gene': 'ENSG00000279676', 'score': 550.77}, {'connected_gene': 'KLK4', 'score': 14.92}, {'connected_gene': 'SIGLECL1', 'score': 10.52}, {'connected_gene': 'C19orf81', 'score': 9.79}, {'connected_gene': 'KLK14', 'score': 7.6}, {'connected_gene': 'ACP4', 'score': 4.15}, {'connected_gene': 'IGLON5', 'score': 2.1}, {'connected_gene': 'ETFB', 'score': 2.05}, {'connected_gene': 'SYT3', 'score': 1.85}, {'connected_gene': 'KLK6', 'score': 0.44}, {'connected_gene': 'KLK5', 'score': 0.44}, {'connected_gene': 'ENSG00000269495', 'score': 0.39}]
chr19	GH19I050555	50555557	50557526	1.61	[{'connected_gene': 'ENSG00000268231', 'score': 550.77}, {'connected_gene': 'ASPDH', 'score': 16.45}, {'connected_gene': 'JOSD2', 'score': 11.79}, {'connected_gene': 'PTOV1', 'score': 10.58}, {'connected_gene': 'LINC01869', 'score': 9.99}, {'connected_gene': 'C19orf48', 'score': 9.99}, {'connected_gene': 'SNORD88C', 'score': 9.99}, {'connected_gene': 'KLK4', 'score': 5.14}, {'connected_gene': 'C19orf81', 'score': 5.08}, {'connected_gene': 'SYT3', 'score': 2.81}, {'connected_gene': 'ACP4', 'score': 2.29}, {'connected_gene': 'LRRC4B', 'score': 1.67}, {'connected_gene': 'KLK6', 'score': 1.45}]
chr19	GH19I050639	50639264	50639433	0.83	[{'connected_gene': 'GC19M050639', 'score': 550.77}, {'connected_gene': 'C19orf81', 'score': 0.44}, {'connected_gene': 'SYT3', 'score': 0.37}]