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
ENST00000250360	[[51628164, 51628652], [51628853, 51629132], [51629337, 51629385], [51630286, 51630553], [51631205, 51631296], [51631670, 51631767], [51633147, 51633567]]	[[51628231, 51628652], [51628853, 51629132], [51629337, 51629385], [51630286, 51630553], [51631205, 51631296], [51631670, 51631767], [51633147, 51633336]]
ENST00000440804	[[51628164, 51628652], [51628853, 51629132], [51629337, 51629385], [51630286, 51630553], [51631205, 51631296], [51631670, 51631767], [51639218, 51639908]]	[[51628231, 51628652], [51628853, 51629132], [51629337, 51629385], [51630286, 51630553], [51631205, 51631296], [51631670, 51631767], [51639218, 51639455]]
ENST00000599948	[[51630286, 51630553], [51631205, 51631296], [51631670, 51631767], [51632056, 51632215]]	[[51630286, 51630553], [51631205, 51631296], [51631670, 51631767], [51632056, 51632215]]
NM_014441	[[51628136, 51628652], [51628853, 51629132], [51629337, 51629385], [51630286, 51630553], [51631205, 51631296], [51631670, 51631767], [51633147, 51633567]]	[[51628231, 51628652], [51628853, 51629132], [51629337, 51629385], [51630286, 51630553], [51631205, 51631296], [51631670, 51631767], [51633147, 51633336]]
NM_001198558	[[51628136, 51628652], [51628853, 51629132], [51629337, 51629385], [51630286, 51630553], [51631205, 51631296], [51631670, 51631767], [51639218, 51639520]]	[[51628231, 51628652], [51628853, 51629132], [51629337, 51629385], [51630286, 51630553], [51631205, 51631296], [51631670, 51631767], [51639218, 51639455]]

Promoter

Chrom	Start	End	Description
chr19	51628330	51628379	CAGE_peak_1_at_SIGLEC9_5end
chr19	51628390	51628400	CAGE_peak_4_at_SIGLEC9_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I051106	51106928	51109280	2.04	[{'connected_gene': 'CTU1', 'score': 555.74}, {'connected_gene': 'SIGLEC9', 'score': 5.6}, {'connected_gene': 'SIGLEC14', 'score': 5.24}, {'connected_gene': 'PIR34748', 'score': 0.39}]
chr19	GH19I051430	51430801	51431629	1.02	[{'connected_gene': 'SIGLEC10', 'score': 7.31}, {'connected_gene': 'VSIG10L', 'score': 5.33}, {'connected_gene': 'SIGLEC14', 'score': 5.09}, {'connected_gene': 'SIGLEC9', 'score': 2.45}, {'connected_gene': 'FPR3', 'score': 1.77}, {'connected_gene': 'FPR2', 'score': 1.61}, {'connected_gene': 'FPR1', 'score': 1.48}, {'connected_gene': 'ENSG00000268711', 'score': 0.77}, {'connected_gene': 'ENSG00000269181', 'score': 0.39}]
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	GH19I051114	51114209	51115790	0.66	[{'connected_gene': 'SIGLEC9', 'score': 6.75}, {'connected_gene': 'SIGLEC18P', 'score': 0.77}, {'connected_gene': 'CTU1', 'score': 0.44}]
chr19	GH19I051136	51136001	51145400	1.96	[{'connected_gene': 'SIGLEC7', 'score': 558.62}, {'connected_gene': 'SIGLEC17P', 'score': 11.99}, {'connected_gene': 'CTU1', 'score': 11.6}, {'connected_gene': 'POLD1', 'score': 11.58}, {'connected_gene': 'SIGLEC9', 'score': 11.51}, {'connected_gene': 'ZNF616', 'score': 11.13}, {'connected_gene': 'KLK14', 'score': 10.62}, {'connected_gene': 'KLK10', 'score': 10.12}, {'connected_gene': 'SIGLEC10', 'score': 3.02}, {'connected_gene': 'CD33', 'score': 2.23}, {'connected_gene': 'SIGLEC12', 'score': 1.11}, {'connected_gene': 'ENSG00000267990', 'score': 0.77}, {'connected_gene': 'ENSG00000267895', 'score': 0.77}]
chr19	GH19I051460	51460401	51462400	1.34	[{'connected_gene': 'SIGLEC25P', 'score': 550.77}, {'connected_gene': 'SIGLEC5', 'score': 10.28}, {'connected_gene': 'SIGLEC14', 'score': 10.28}, {'connected_gene': 'RPL7P51', 'score': 10.28}, {'connected_gene': 'SIGLEC6', 'score': 10.05}, {'connected_gene': 'SIGLEC8', 'score': 7.87}, {'connected_gene': 'SIGLEC7', 'score': 7.63}, {'connected_gene': 'ZNF175', 'score': 4.58}, {'connected_gene': 'ZNF613', 'score': 2.95}, {'connected_gene': 'CD33', 'score': 2.9}, {'connected_gene': 'SIGLEC10', 'score': 2.9}, {'connected_gene': 'ZNF649', 'score': 2.85}, {'connected_gene': 'SIGLEC9', 'score': 1.29}]
chr19	GH19I051122	51119669	51119815	0.49	[{'connected_gene': 'SIGLEC18P', 'score': 550.77}, {'connected_gene': 'SIGLEC9', 'score': 6.5}, {'connected_gene': 'CTU1', 'score': 4.86}, {'connected_gene': 'SIGLEC7', 'score': 2.64}, {'connected_gene': 'SIGLEC10', 'score': 1.68}, {'connected_gene': 'CD33', 'score': 1.57}, {'connected_gene': 'SIGLEC8', 'score': 1.15}]
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	GH19I051119	51119280	51119396	0.42	[{'connected_gene': 'SIGLEC18P', 'score': 550.77}, {'connected_gene': 'SIGLEC9', 'score': 5.1}, {'connected_gene': 'SIGLEC7', 'score': 2.51}, {'connected_gene': 'CTU1', 'score': 0.39}]
chr19	GH19I051435	51435383	51435896	0.36	[{'connected_gene': 'SIGLEC14', 'score': 6.94}, {'connected_gene': 'SIGLEC9', 'score': 2.8}, {'connected_gene': 'FPR2', 'score': 1.57}, {'connected_gene': 'FPR1', 'score': 1.47}, {'connected_gene': 'FPR3', 'score': 1.31}, {'connected_gene': 'ENSG00000269181', 'score': 0.44}, {'connected_gene': 'ENSG00000268711', 'score': 0.44}]
chr19	GH19I051434	51434556	51434744	0.25	[{'connected_gene': 'SIGLEC14', 'score': 2.86}, {'connected_gene': 'SIGLEC9', 'score': 2.23}, {'connected_gene': 'ENSG00000269181', 'score': 0.44}, {'connected_gene': 'ENSG00000268711', 'score': 0.44}]
chr19	GH19I051440	51440799	51442661	1.37	[{'connected_gene': 'ENSG00000269181', 'score': 550.77}, {'connected_gene': 'SIGLEC6', 'score': 3.49}, {'connected_gene': 'SIGLEC7', 'score': 2.7}, {'connected_gene': 'ZNF649', 'score': 2.51}, {'connected_gene': 'ZNF175', 'score': 2.31}, {'connected_gene': 'SIGLEC9', 'score': 1.95}, {'connected_gene': 'SIGLEC10', 'score': 1.65}, {'connected_gene': 'ENSG00000268711', 'score': 0.37}]
chr19	GH19I051393	51393637	51396457	1.89	[{'connected_gene': 'ENSG00000268889', 'score': 550.77}, {'connected_gene': 'LOC105372446', 'score': 550.77}, {'connected_gene': 'ZNF841', 'score': 93.13}, {'connected_gene': 'ZNF766', 'score': 91.68}, {'connected_gene': 'ZNF577', 'score': 88.91}, {'connected_gene': 'ZNF616', 'score': 81.03}, {'connected_gene': 'ZNF175', 'score': 78.22}, {'connected_gene': 'ZNF836', 'score': 74.83}, {'connected_gene': 'ZNF432', 'score': 58.11}, {'connected_gene': 'ZNF614', 'score': 47.68}, {'connected_gene': 'SPACA6P-AS', 'score': 42.37}, {'connected_gene': 'ZNF610', 'score': 39.17}, {'connected_gene': 'ZNF613', 'score': 38.03}, {'connected_gene': 'ENSG00000267808', 'score': 31.96}, {'connected_gene': 'ZNF615', 'score': 30.73}, {'connected_gene': 'CTU1', 'score': 25.82}, {'connected_gene': 'LOC100419835', 'score': 25.37}, {'connected_gene': 'SIGLEC17P', 'score': 22.07}, {'connected_gene': 'SPACA6', 'score': 21.71}, {'connected_gene': 'C19orf84', 'score': 20.56}, {'connected_gene': 'ZNF880', 'score': 19.25}, {'connected_gene': 'ENSG00000268015', 'score': 19.15}, {'connected_gene': 'ENSG00000269535', 'score': 18.82}, {'connected_gene': 'ENSG00000268316', 'score': 18.77}, {'connected_gene': 'ENSG00000269102', 'score': 17.98}, {'connected_gene': 'CLEC11A', 'score': 10.63}, {'connected_gene': 'ZNF480', 'score': 10.09}, {'connected_gene': 'ENSG00000269483', 'score': 9.75}, {'connected_gene': 'SIGLEC14', 'score': 7.55}, {'connected_gene': 'HAS1', 'score': 5.32}, {'connected_gene': 'FPR1', 'score': 4.51}, {'connected_gene': 'SIGLEC9', 'score': 4.28}, {'connected_gene': 'FPR2', 'score': 3.78}, {'connected_gene': 'SIGLEC10', 'score': 3.16}, {'connected_gene': 'FPR3', 'score': 2.05}, {'connected_gene': 'CD33', 'score': 1.38}, {'connected_gene': 'NIFKP6', 'score': 0.44}]
chr19	GH19I051427	51427231	51427524	0.43	[{'connected_gene': 'ENSG00000268711', 'score': 550.77}, {'connected_gene': 'SIGLEC14', 'score': 6.56}, {'connected_gene': 'SIGLEC10', 'score': 6.11}, {'connected_gene': 'SIGLEC9', 'score': 3.3}, {'connected_gene': 'FPR2', 'score': 1.82}, {'connected_gene': 'FPR1', 'score': 1.81}, {'connected_gene': 'FPR3', 'score': 1.72}, {'connected_gene': 'CD33', 'score': 1.23}, {'connected_gene': 'ENSG00000269181', 'score': 0.37}]