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
ENST00000605781	[[5077545, 5077808], [5138601, 5138769], [5139625, 5139742], [5140993, 5141071], [5141518, 5141641], [5144292, 5144402]]	None
ENST00000470862	[[5077548, 5077808], [5120061, 5120169], [5122937, 5123093], [5123873, 5124077], [5138601, 5138769], [5139625, 5139725]]	None
ENST00000480822	[[5077549, 5077808], [5120061, 5120169], [5122937, 5123093], [5138601, 5138769], [5139625, 5139729]]	None
ENST00000602997	[[5090980, 5091087], [5120091, 5120169], [5138601, 5138769], [5139625, 5139742], [5140993, 5141071], [5141518, 5141606]]	[[5120154, 5120169], [5138601, 5138769], [5139625, 5139742], [5140993, 5141071], [5141518, 5141606]]
ENST00000605149	[[5119829, 5120169], [5138601, 5138769], [5139625, 5139742], [5140993, 5141071], [5141518, 5141641], [5144292, 5144402], [5144676, 5144842], [5147786, 5147869], [5149652, 5149872]]	[[5120154, 5120169], [5138601, 5138769], [5139625, 5139742], [5140993, 5141071], [5141518, 5141641], [5144292, 5144402], [5144676, 5144842], [5147786, 5147869], [5149652, 5149695]]
ENST00000439082	[[5119972, 5120169], [5138601, 5138769], [5139625, 5139742], [5140993, 5141071], [5141518, 5141641], [5144292, 5144402], [5144676, 5144842], [5147786, 5147869], [5149652, 5149872]]	[[5139730, 5139742], [5140993, 5141071], [5141518, 5141641], [5144292, 5144402], [5144676, 5144842], [5147786, 5147869], [5149652, 5149695]]
ENST00000380554	[[5135984, 5136720], [5138601, 5138769], [5139625, 5139742], [5140993, 5141071], [5141518, 5141641], [5144292, 5144402], [5144676, 5144842], [5147786, 5147869], [5149652, 5149878]]	[[5136636, 5136720], [5138601, 5138769], [5139625, 5139742], [5140993, 5141071], [5141518, 5141641], [5144292, 5144402], [5144676, 5144842], [5147786, 5147869], [5149652, 5149695]]
ENST00000480697	[[5136605, 5136720], [5138601, 5138769], [5139625, 5140368]]	None
ENST00000605322	[[5136609, 5136720], [5138601, 5138769], [5141518, 5142085]]	None
ENST00000603312	[[5138336, 5138769], [5139625, 5139720]]	None
ENST00000603484	[[5147466, 5147869], [5149652, 5149878]]	None
NM_001253908	[[5090957, 5091087], [5138601, 5138769], [5139625, 5139742], [5140993, 5141071], [5141518, 5141641], [5144292, 5144402], [5144676, 5144842], [5147786, 5147869], [5149652, 5149878]]	[[5091003, 5091087], [5138601, 5138769], [5139625, 5139742], [5140993, 5141071], [5141518, 5141641], [5144292, 5144402], [5144676, 5144842], [5147786, 5147869], [5149652, 5149695]]
NM_001253909	[[5136567, 5136720], [5138601, 5138769], [5139625, 5140368]]	[[5136636, 5136720], [5138601, 5138769], [5139625, 5139790]]
NM_003739	[[5136567, 5136720], [5138601, 5138769], [5139625, 5139742], [5140993, 5141071], [5141518, 5141641], [5144292, 5144402], [5144676, 5144842], [5147786, 5147869], [5149652, 5149878]]	[[5136636, 5136720], [5138601, 5138769], [5139625, 5139742], [5140993, 5141071], [5141518, 5141641], [5144292, 5144402], [5144676, 5144842], [5147786, 5147869], [5149652, 5149695]]

Promoter

Chrom	Start	End	Description
chr10	5077525	5077540	CAGE_peak_3_at_AKR1C3_5end
chr10	5090940	5090983	CAGE_peak_5_at_AKR1C3_5end
chr10	5135981	5136010	CAGE_peak_6_at_AKR1C3_5end
chr10	5136509	5136521	CAGE_peak_4_at_AKR1C3_5end
chr10	5136559	5136591	CAGE_peak_2_at_AKR1C3_5end
chr10	5136595	5136628	CAGE_peak_1_at_AKR1C3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I005093	5093743	5096600	2.11	[{'connected_gene': 'AKR1C3', 'score': 555.98}, {'connected_gene': 'ENSG00000239142', 'score': 550.77}, {'connected_gene': 'AKR1C8P', 'score': 17.11}, {'connected_gene': 'RBM17', 'score': 6.44}, {'connected_gene': 'AKR1C5P', 'score': 0.26}, {'connected_gene': 'GC10P005044', 'score': 0.23}]
chr10	GH10I004901	4901848	4903634	0.63	[{'connected_gene': 'AKR1C3', 'score': 5.17}, {'connected_gene': 'AKR1C2', 'score': 5.12}, {'connected_gene': 'AKR1C1', 'score': 4.68}, {'connected_gene': 'AKR1C6P', 'score': 0.39}, {'connected_gene': 'PIR32364', 'score': 0.25}]
chr10	GH10I005069	5069438	5073572	1.46	[{'connected_gene': 'AKR1C3', 'score': 17.55}, {'connected_gene': 'AKR1C2', 'score': 11.04}, {'connected_gene': 'AKR1C1', 'score': 5.38}, {'connected_gene': 'PIR40953', 'score': 0.39}, {'connected_gene': 'ENSG00000239142', 'score': 0.34}, {'connected_gene': 'GC10P005044', 'score': 0.31}]
chr10	GH10I005032	5032912	5034098	0.68	[{'connected_gene': 'AKR1C3', 'score': 566.6}, {'connected_gene': 'AKR1C2', 'score': 11.21}]
chr10	GH10I005025	5025473	5025833	0.78	[{'connected_gene': 'AKR1C3', 'score': 14.84}, {'connected_gene': 'AKR1C2', 'score': 0.44}]
chr10	GH10I005022	5022807	5022828	0.2	[{'connected_gene': 'AKR1C3', 'score': 15.32}, {'connected_gene': 'AKR1C2', 'score': 0.77}]
chr10	GH10I005048	5048800	5048859	0.76	[{'connected_gene': 'AKR1C3', 'score': 550.39}, {'connected_gene': 'GC10P005044', 'score': 0.77}, {'connected_gene': 'PIR40953', 'score': 0.39}]
chr10	GH10I004866	4866923	4868556	0.98	[{'connected_gene': 'FAM208B', 'score': 19.73}, {'connected_gene': 'AKR1E2', 'score': 10.97}, {'connected_gene': 'ENSG00000226647', 'score': 10.64}, {'connected_gene': 'NRBF2P5', 'score': 10.31}, {'connected_gene': 'AKR1C3', 'score': 6.41}, {'connected_gene': 'PIR32364', 'score': 0.39}, {'connected_gene': 'AKR1C6P', 'score': 0.25}]
chr10	GH10I005089	5089949	5090118	0.66	[{'connected_gene': 'AKR1C8P', 'score': 17.87}, {'connected_gene': 'ENSG00000239142', 'score': 0.77}, {'connected_gene': 'PIR40953', 'score': 0.29}, {'connected_gene': 'GC10P005044', 'score': 0.25}, {'connected_gene': 'AKR1C3', 'score': 0.23}]
chr10	GH10I005146	5146647	5149180	0.96	[{'connected_gene': 'AKR1C8P', 'score': 18.09}, {'connected_gene': 'AKR1C4', 'score': 12.25}, {'connected_gene': 'ARL4AP3', 'score': 12.02}, {'connected_gene': 'UCN3', 'score': 10.11}, {'connected_gene': 'AKR1C3', 'score': 5.37}, {'connected_gene': 'AKR1C5P', 'score': 4.99}, {'connected_gene': 'GC10P005044', 'score': 0.15}]
chr10	GH10I005018	5018529	5021400	1.24	[{'connected_gene': 'AKR1C2', 'score': 577.25}, {'connected_gene': 'AKR1C3', 'score': 14.48}, {'connected_gene': 'ENSG00000239142', 'score': 11.01}, {'connected_gene': 'UCN3', 'score': 10.4}, {'connected_gene': 'AKR1C1', 'score': 8.69}]
chr10	GH10I005021	5021917	5022193	0.43	[{'connected_gene': 'AKR1C2', 'score': 14.15}, {'connected_gene': 'ENSG00000239142', 'score': 11.01}, {'connected_gene': 'AKR1C3', 'score': 10.89}, {'connected_gene': 'UCN3', 'score': 10.4}]
chr10	GH10I004981	4981339	4987603	1.39	[{'connected_gene': 'AKR1C2', 'score': 12.46}, {'connected_gene': 'LOC101928051', 'score': 11.42}, {'connected_gene': 'AKR1C1', 'score': 10.9}, {'connected_gene': 'AKR1C3', 'score': 5.1}, {'connected_gene': 'GC10P004980', 'score': 0.77}, {'connected_gene': 'GC10P004986', 'score': 0.77}, {'connected_gene': 'GC10M004934', 'score': 0.44}]
chr10	GH10I004944	4944601	4949348	1.57	[{'connected_gene': 'AKR1C1', 'score': 14.61}, {'connected_gene': 'LOC101928051', 'score': 4.81}, {'connected_gene': 'AKR1C3', 'score': 2.2}, {'connected_gene': 'GC10P004937', 'score': 0.44}, {'connected_gene': 'ENSG00000238840', 'score': 0.37}, {'connected_gene': 'GC10M004934', 'score': 0.26}]
chr10	GH10I005078	5078449	5079778	0.82	[{'connected_gene': 'UCN3', 'score': 10.47}, {'connected_gene': 'AKR1C3', 'score': 5.83}, {'connected_gene': 'ENSG00000239142', 'score': 0.39}, {'connected_gene': 'PIR40953', 'score': 0.34}, {'connected_gene': 'GC10P005044', 'score': 0.29}]
chr10	GH10I005079	5079969	5080118	0.75	[{'connected_gene': 'UCN3', 'score': 10.47}, {'connected_gene': 'ENSG00000239142', 'score': 0.39}, {'connected_gene': 'PIR40953', 'score': 0.34}, {'connected_gene': 'GC10P005044', 'score': 0.28}, {'connected_gene': 'AKR1C3', 'score': 0.26}]
chr10	GH10I005289	5289427	5298264	1.69	[{'connected_gene': 'LINC02561', 'score': 17.48}, {'connected_gene': 'TUBAL3', 'score': 16.61}, {'connected_gene': 'UCN3', 'score': 11.16}, {'connected_gene': 'ENSG00000239142', 'score': 11.05}, {'connected_gene': 'AKR1C3', 'score': 11.03}, {'connected_gene': 'AKR1E2', 'score': 4.94}, {'connected_gene': 'AKR1C7P', 'score': 0.44}, {'connected_gene': 'GC10M005304', 'score': 0.39}]
chr10	GH10I005095	5093429	5093538	0.49	[{'connected_gene': 'ENSG00000239142', 'score': 550.77}, {'connected_gene': 'PIR40953', 'score': 0.29}, {'connected_gene': 'GC10P005044', 'score': 0.25}, {'connected_gene': 'AKR1C3', 'score': 0.22}]
chr10	GH10I005195	5195508	5197578	1.3	[{'connected_gene': 'GC10M005190', 'score': 550.77}, {'connected_gene': 'AKR1C4', 'score': 550.77}, {'connected_gene': 'TUBAL3', 'score': 5.91}, {'connected_gene': 'RBM17', 'score': 5.86}, {'connected_gene': 'AKR1C3', 'score': 4.72}, {'connected_gene': 'ARL4AP3', 'score': 0.39}]
chr10	GH10I005094	5093569	5093578	0.46	[{'connected_gene': 'ENSG00000239142', 'score': 550.77}, {'connected_gene': 'AKR1C5P', 'score': 0.26}, {'connected_gene': 'GC10P005044', 'score': 0.25}, {'connected_gene': 'AKR1C3', 'score': 0.22}]