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
ENST00000569188	[[69139466, 69139690], [69143298, 69143934], [69147343, 69147445], [69148245, 69149453]]	[[69143298, 69143934], [69147343, 69147445], [69148245, 69149169]]
ENST00000568321	[[69140156, 69140219], [69140474, 69140891]]	None
ENST00000219322	[[69140159, 69140219], [69143298, 69143934], [69147343, 69147445], [69152257, 69152622]]	[[69143298, 69143934], [69147343, 69147445], [69152257, 69152365]]
ENST00000566118	[[69140511, 69140618], [69143298, 69143934], [69147343, 69147445], [69148245, 69148300]]	[[69143298, 69143934], [69147343, 69147445], [69148245, 69148300]]
ENST00000306560	[[69141442, 69141598], [69143298, 69143934], [69147343, 69147445], [69148245, 69151571]]	[[69143298, 69143934], [69147343, 69147445], [69148245, 69149169]]
NM_001199280	[[69139466, 69139690], [69143298, 69143934], [69147343, 69147445], [69148245, 69151571]]	[[69143298, 69143934], [69147343, 69147445], [69148245, 69149169]]
NM_138612	[[69140128, 69140219], [69143298, 69143934], [69147343, 69147445], [69152257, 69152622]]	[[69143298, 69143934], [69147343, 69147445], [69152257, 69152365]]
NM_005329	[[69141442, 69141598], [69143298, 69143934], [69147343, 69147445], [69148245, 69151571]]	[[69143298, 69143934], [69147343, 69147445], [69148245, 69149169]]

Promoter

Chrom	Start	End	Description
chr16	69139543	69139585	CAGE_peak_2_at_HAS3_5end
chr16	69139617	69139628	CAGE_peak_3_at_HAS3_5end
chr16	69140122	69140126	CAGE_peak_1_at_HAS3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I068990	68990614	68997141	1.03	[{'connected_gene': 'UTP4', 'score': 22.96}, {'connected_gene': 'HAS3', 'score': 11.38}, {'connected_gene': 'SNTB2', 'score': 9.93}, {'connected_gene': 'ENSG00000200164', 'score': 9.93}, {'connected_gene': 'CDH1', 'score': 7.01}, {'connected_gene': 'FTLP14', 'score': 5.49}, {'connected_gene': 'NFATC3', 'score': 4.38}, {'connected_gene': 'GC16M069007', 'score': 0.39}, {'connected_gene': 'ENSG00000260999', 'score': 0.25}, {'connected_gene': 'TANGO6', 'score': 0.1}]
chr16	GH16I069031	69031453	69032573	0.82	[{'connected_gene': 'RPS2P45', 'score': 550.77}, {'connected_gene': 'RNU6-898P', 'score': 12.22}, {'connected_gene': 'HAS3', 'score': 11.14}, {'connected_gene': 'NOB1', 'score': 4.9}, {'connected_gene': 'LOC101060098', 'score': 0.44}, {'connected_gene': 'TANGO6', 'score': 0.09}]
chr16	GH16I069076	69076319	69078976	0.94	[{'connected_gene': 'SNTB2', 'score': 5.6}, {'connected_gene': 'CDH1', 'score': 5.57}, {'connected_gene': 'HAS3', 'score': 0.31}, {'connected_gene': 'RPS2P45', 'score': 0.26}, {'connected_gene': 'TANGO6', 'score': 0.07}]
chr16	GH16I069087	69087311	69087511	0.45	[{'connected_gene': 'SNTB2', 'score': 6.24}, {'connected_gene': 'HAS3', 'score': 0.37}, {'connected_gene': 'RPS2P45', 'score': 0.23}]
chr16	GH16I069062	69062338	69063322	0.43	[{'connected_gene': 'PRMT7', 'score': 16.55}, {'connected_gene': 'TMED6', 'score': 5.45}, {'connected_gene': 'RPS2P45', 'score': 0.31}, {'connected_gene': 'HAS3', 'score': 0.26}, {'connected_gene': 'TANGO6', 'score': 0.08}]
chr16	GH16I069070	69070926	69074483	1.31	[{'connected_gene': 'PRMT7', 'score': 54.05}, {'connected_gene': 'NFAT5', 'score': 26.44}, {'connected_gene': 'NONOP1', 'score': 25.06}, {'connected_gene': 'SNTB2', 'score': 23.03}, {'connected_gene': 'ZFP90', 'score': 22.4}, {'connected_gene': 'ENSG00000259797', 'score': 21.01}, {'connected_gene': 'CHTF8', 'score': 20.3}, {'connected_gene': 'ENSG00000263276', 'score': 11.23}, {'connected_gene': 'NIP7', 'score': 10.87}, {'connected_gene': 'ENSG00000260891', 'score': 10.63}, {'connected_gene': 'NFATC3', 'score': 10.44}, {'connected_gene': 'SLC7A6OS', 'score': 10.24}, {'connected_gene': 'PDXDC2P-NPIPB14P', 'score': 9.86}, {'connected_gene': 'CDH1', 'score': 5.66}, {'connected_gene': 'CYB5B', 'score': 4.24}, {'connected_gene': 'HAS3', 'score': 0.29}, {'connected_gene': 'RPS2P45', 'score': 0.28}, {'connected_gene': 'TANGO6', 'score': 0.07}]
chr16	GH16I069064	69064103	69065327	0.46	[{'connected_gene': 'CDH1', 'score': 5.29}, {'connected_gene': 'NFATC3', 'score': 4.36}, {'connected_gene': 'RPS2P45', 'score': 0.29}, {'connected_gene': 'HAS3', 'score': 0.26}, {'connected_gene': 'TANGO6', 'score': 0.07}]
chr16	GH16I069057	69057128	69058976	1.15	[{'connected_gene': 'CDH1', 'score': 5.66}, {'connected_gene': 'TMED6', 'score': 5.2}, {'connected_gene': 'RPS2P45', 'score': 0.34}, {'connected_gene': 'HAS3', 'score': 0.25}, {'connected_gene': 'TANGO6', 'score': 0.08}]
chr16	GH16I069083	69083658	69083727	0.49	[{'connected_gene': 'HAS3', 'score': 0.34}, {'connected_gene': 'RPS2P45', 'score': 0.23}, {'connected_gene': 'TANGO6', 'score': 0.07}]
chr16	GH16I069105	69105038	69108965	2.1	[{'connected_gene': 'HAS3', 'score': 550.77}, {'connected_gene': 'GC16M069105', 'score': 550.77}, {'connected_gene': 'SNTB2', 'score': 28.59}, {'connected_gene': 'NFAT5', 'score': 21.2}, {'connected_gene': 'NONOP1', 'score': 15.23}, {'connected_gene': 'NOB1', 'score': 9.7}]
chr16	GH16I069039	69039264	69041327	1.09	[{'connected_gene': 'HAS3', 'score': 11.18}, {'connected_gene': 'NOB1', 'score': 4.97}, {'connected_gene': 'SNTB2', 'score': 4.06}, {'connected_gene': 'RPS2P45', 'score': 0.44}, {'connected_gene': 'TANGO6', 'score': 0.08}]
chr16	GH16I069089	69089148	69089907	1.28	[{'connected_gene': 'NQO1', 'score': 4.67}, {'connected_gene': 'HAS3', 'score': 0.37}, {'connected_gene': 'RPS2P45', 'score': 0.22}]
chr16	GH16I069097	69097315	69098117	0.38	[{'connected_gene': 'RNU6-898P', 'score': 11.35}, {'connected_gene': 'UTP4', 'score': 10.51}, {'connected_gene': 'CHTF8', 'score': 10.51}, {'connected_gene': 'SNTB2', 'score': 10.21}, {'connected_gene': 'ENSG00000200164', 'score': 10.21}, {'connected_gene': 'PDF', 'score': 8.23}, {'connected_gene': 'CDH1', 'score': 5.93}, {'connected_gene': 'HAS3', 'score': 0.44}, {'connected_gene': 'RPS2P45', 'score': 0.21}]
chr16	GH16I069099	69099662	69101908	0.38	[{'connected_gene': 'RNU6-898P', 'score': 11.35}, {'connected_gene': 'SNTB2', 'score': 10.1}, {'connected_gene': 'ENSG00000200164', 'score': 10.09}, {'connected_gene': 'CDH1', 'score': 5.89}, {'connected_gene': 'TMED6', 'score': 4.63}, {'connected_gene': 'HAS3', 'score': 0.77}, {'connected_gene': 'RPS2P45', 'score': 0.2}]
chr16	GH16I069048	69048427	69050476	0.46	[{'connected_gene': 'RNU6-898P', 'score': 11.72}, {'connected_gene': 'HAS3', 'score': 11.49}, {'connected_gene': 'CDH1', 'score': 5.66}, {'connected_gene': 'SNTB2', 'score': 4.87}, {'connected_gene': 'RPS2P45', 'score': 0.37}, {'connected_gene': 'TANGO6', 'score': 0.08}]
chr16	GH16I069522	69522836	69522994	0.79	[{'connected_gene': 'LOC105371325', 'score': 550.77}, {'connected_gene': 'NFAT5', 'score': 15.44}, {'connected_gene': 'PDPR', 'score': 13.69}, {'connected_gene': 'PDXDC2P-NPIPB14P', 'score': 13.48}, {'connected_gene': 'DDX19A', 'score': 13.13}, {'connected_gene': 'NONOP1', 'score': 12.95}, {'connected_gene': 'PDXDC2P', 'score': 12.79}, {'connected_gene': 'NPIPB14P', 'score': 12.05}, {'connected_gene': 'CYB5B', 'score': 11.21}, {'connected_gene': 'LOC400541', 'score': 11.18}, {'connected_gene': 'EXOSC6', 'score': 10.9}, {'connected_gene': 'SNTB2', 'score': 10.86}, {'connected_gene': 'DDX19B', 'score': 10.27}, {'connected_gene': 'HAS3', 'score': 1.53}, {'connected_gene': 'TERF2', 'score': 1.53}, {'connected_gene': 'GC16M069496', 'score': 0.31}]
chr16	GH16I069026	69026436	69026578	0.31	[{'connected_gene': 'LOC101060098', 'score': 550.77}, {'connected_gene': 'HAS3', 'score': 11.13}, {'connected_gene': 'RNU6-898P', 'score': 0.37}, {'connected_gene': 'TANGO6', 'score': 0.09}]
chr16	GH16I069191	69191465	69192693	0.75	[{'connected_gene': 'GC16P069191', 'score': 550.77}, {'connected_gene': 'ENSG00000200164', 'score': 550.77}, {'connected_gene': 'HAS3', 'score': 3.23}, {'connected_gene': 'GC16M069194', 'score': 0.77}, {'connected_gene': 'SNTB2', 'score': 0.77}, {'connected_gene': 'UTP4', 'score': 0.21}]
chr16	GH16I069112	69112778	69112947	0.92	[{'connected_gene': 'PIR52830', 'score': 550.77}, {'connected_gene': 'RNU4-36P', 'score': 10.15}, {'connected_gene': 'HAS3', 'score': 0.44}, {'connected_gene': 'GC16M069105', 'score': 0.44}]