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
ENST00000597610	[[51749602, 51749651], [51767136, 51767348], [51768621, 51768903], [51769030, 51769136], [51770626, 51770637]]	[[51767326, 51767348], [51768621, 51768903], [51769030, 51769136], [51770626, 51770637]]
ENST00000601727	[[51754331, 51754799], [51767136, 51767348], [51768621, 51768853]]	[[51767326, 51767348], [51768621, 51768853]]
ENST00000593968	[[51754331, 51754799], [51767136, 51767357], [51769030, 51769136], [51770626, 51770783], [51771824, 51771871]]	None
ENST00000599553	[[51754502, 51754799], [51759187, 51759286], [51767136, 51767303]]	None
ENST00000596117	[[51754525, 51754799], [51767136, 51767348], [51767676, 51767693]]	[[51767326, 51767348], [51767676, 51767693]]
ENST00000316401	[[51760963, 51761154], [51767136, 51767348], [51768621, 51768903], [51769030, 51769136], [51770626, 51770783], [51771824, 51772584]]	[[51767326, 51767348], [51768621, 51768903], [51769030, 51769136], [51770626, 51770783], [51771824, 51771851]]
ENST00000597824	[[51767164, 51767348], [51769030, 51769136], [51770626, 51770783], [51771824, 51772247]]	[[51767326, 51767348], [51769030, 51769136], [51770626, 51770783], [51771824, 51771851]]
NR_102324	[[51754331, 51754799], [51767136, 51767357], [51769030, 51769136], [51770626, 51770783], [51771824, 51772582]]	None
NM_173635	[[51760963, 51761154], [51767136, 51767348], [51768621, 51768903], [51769030, 51769136], [51770626, 51770783], [51771824, 51772582]]	[[51767326, 51767348], [51768621, 51768903], [51769030, 51769136], [51770626, 51770783], [51771824, 51771851]]
NM_001308437	[[51767136, 51767348], [51769030, 51769136], [51770626, 51770783], [51771824, 51772582]]	[[51767326, 51767348], [51769030, 51769136], [51770626, 51770783], [51771824, 51771851]]

Promoter

Chrom	Start	End	Description
chr19	51754332	51754357	CAGE_peak_1_at_C19orf75_5end
chr19	51754546	51754567	CAGE_peak_3_at_C19orf75_5end
chr19	51754624	51754635	CAGE_peak_2_at_C19orf75_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I051223	51223971	51227800	1.59	[{'connected_gene': 'CD33', 'score': 560.12}, {'connected_gene': 'SIGLECL1', 'score': 20.54}, {'connected_gene': 'SIGLEC14', 'score': 9.45}, {'connected_gene': 'RPL7P51', 'score': 9.45}, {'connected_gene': 'SIGLEC5', 'score': 9.45}]
chr19	GH19I051687	51687021	51693960	2.13	[{'connected_gene': 'ZNF137P', 'score': 107.16}, {'connected_gene': 'ZNF808', 'score': 106.79}, {'connected_gene': 'ZNF841', 'score': 101.0}, {'connected_gene': 'ZNF616', 'score': 97.72}, {'connected_gene': 'ZNF766', 'score': 85.53}, {'connected_gene': 'ZNF577', 'score': 81.85}, {'connected_gene': 'ENSG00000268970', 'score': 76.41}, {'connected_gene': 'ZNF836', 'score': 76.27}, {'connected_gene': 'ENSG00000269825', 'score': 75.92}, {'connected_gene': 'ZNF175', 'score': 72.26}, {'connected_gene': 'ZNF350', 'score': 50.77}, {'connected_gene': 'ZNF528', 'score': 45.92}, {'connected_gene': 'ZNF480', 'score': 43.75}, {'connected_gene': 'ENSG00000269535', 'score': 40.63}, {'connected_gene': 'ZNF432', 'score': 40.54}, {'connected_gene': 'LOC100419835', 'score': 39.93}, {'connected_gene': 'SIGLEC17P', 'score': 34.1}, {'connected_gene': 'ZNF613', 'score': 31.2}, {'connected_gene': 'ENSG00000268316', 'score': 30.81}, {'connected_gene': 'ZNF614', 'score': 27.48}, {'connected_gene': 'ZNF578', 'score': 23.07}, {'connected_gene': 'ENSG00000267808', 'score': 22.45}, {'connected_gene': 'SPACA6', 'score': 21.02}, {'connected_gene': 'ZNF528-AS1', 'score': 19.88}, {'connected_gene': 'ZNF649', 'score': 19.87}, {'connected_gene': 'ZNF610', 'score': 19.36}, {'connected_gene': 'ZNF615', 'score': 18.38}, {'connected_gene': 'SIGLEC14', 'score': 16.09}, {'connected_gene': 'SIGLEC6', 'score': 15.7}, {'connected_gene': 'ENSG00000269483', 'score': 12.57}, {'connected_gene': 'CTU1', 'score': 10.87}, {'connected_gene': 'SHANK1', 'score': 10.65}, {'connected_gene': 'FPR3', 'score': 10.42}, {'connected_gene': 'SIGLEC5', 'score': 10.4}, {'connected_gene': 'RPL7P51', 'score': 10.4}, {'connected_gene': 'ENSG00000269102', 'score': 9.72}, {'connected_gene': 'HAS1', 'score': 9.13}, {'connected_gene': 'FPR2', 'score': 8.31}, {'connected_gene': 'FPR1', 'score': 7.39}, {'connected_gene': 'SIGLEC8', 'score': 7.27}, {'connected_gene': 'SPACA6P-AS', 'score': 7.1}, {'connected_gene': 'IGLON5', 'score': 4.95}, {'connected_gene': 'SIGLEC10', 'score': 2.65}, {'connected_gene': 'SIGLECL1', 'score': 1.61}, {'connected_gene': 'CLDND2', 'score': 1.13}, {'connected_gene': 'GC19P051725', 'score': 0.77}, {'connected_gene': 'MIR99B', 'score': 0.77}, {'connected_gene': 'GC19P051722', 'score': 0.77}, {'connected_gene': 'GC19P051724', 'score': 0.77}, {'connected_gene': 'MIR125A', 'score': 0.77}, {'connected_gene': 'GC19P051723', 'score': 0.77}, {'connected_gene': 'MIRLET7E', 'score': 0.77}, {'connected_gene': 'GC19P051649', 'score': 0.26}]
chr19	GH19I051310	51310256	51313059	0.96	[{'connected_gene': 'IGLON5', 'score': 550.77}, {'connected_gene': 'ENSG00000268595', 'score': 10.19}, {'connected_gene': 'SIGLECL1', 'score': 9.24}, {'connected_gene': 'ENSG00000261341', 'score': 5.43}, {'connected_gene': 'LOC100420904', 'score': 0.31}]
chr19	GH19I051245	51245505	51246700	0.97	[{'connected_gene': 'SIGLECL1', 'score': 550.77}, {'connected_gene': 'ENSG00000268595', 'score': 10.58}, {'connected_gene': 'CD33', 'score': 6.79}]
chr19	GH19I051258	51258401	51258600	0.6	[{'connected_gene': 'SIGLEC17P', 'score': 12.48}, {'connected_gene': 'SIGLECL1', 'score': 0.39}, {'connected_gene': 'ENSG00000268595', 'score': 0.39}]
chr19	GH19I051259	51259467	51259616	0.6	[{'connected_gene': 'SIGLEC17P', 'score': 12.48}, {'connected_gene': 'VSIG10L', 'score': 9.99}, {'connected_gene': 'CTU1', 'score': 9.82}, {'connected_gene': 'SIGLEC5', 'score': 9.03}, {'connected_gene': 'SIGLEC14', 'score': 9.03}, {'connected_gene': 'RPL7P51', 'score': 9.03}, {'connected_gene': 'ENSG00000268595', 'score': 0.39}, {'connected_gene': 'SIGLECL1', 'score': 0.39}]
chr19	GH19I051210	51210601	51212200	0.63	[{'connected_gene': 'SIGLEC22P', 'score': 550.77}, {'connected_gene': 'SIGLECL1', 'score': 7.56}, {'connected_gene': 'CD33', 'score': 0.77}]
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	GH19I051472	51472625	51474075	1.01	[{'connected_gene': 'RPL7P51', 'score': 10.71}, {'connected_gene': 'SIGLEC5', 'score': 10.71}, {'connected_gene': 'SIGLEC14', 'score': 10.71}, {'connected_gene': 'FPR3', 'score': 9.41}, {'connected_gene': 'SIGLEC12', 'score': 6.88}, {'connected_gene': 'SIGLECL1', 'score': 3.19}, {'connected_gene': 'KLK14', 'score': 2.42}, {'connected_gene': 'SIGLEC26P', 'score': 0.77}, {'connected_gene': 'CEACAM18', 'score': 0.44}]
chr19	GH19I051650	51650763	51652799	1.2	[{'connected_gene': 'SIGLEC14', 'score': 16.43}, {'connected_gene': 'FPR2', 'score': 3.21}, {'connected_gene': 'FPR1', 'score': 2.76}, {'connected_gene': 'SIGLECL1', 'score': 2.49}, {'connected_gene': 'SIGLEC10', 'score': 1.83}, {'connected_gene': 'ZNF350', 'score': 1.82}, {'connected_gene': 'CD33', 'score': 1.57}, {'connected_gene': 'GC19P051649', 'score': 0.77}, {'connected_gene': 'GC19P051724', 'score': 0.26}]