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
ENST00000373202	[[72575725, 72575882], [72576566, 72576636], [72604229, 72604395], [72610899, 72610967], [72614464, 72614612], [72617370, 72617447], [72619127, 72619256], [72628101, 72628190], [72629548, 72629654], [72630804, 72630903], [72631593, 72631743], [72633107, 72633346], [72635158, 72635305], [72636297, 72636418], [72636951, 72640930]]	[[72576609, 72576636], [72604229, 72604395], [72610899, 72610967], [72614464, 72614612], [72617370, 72617447], [72619127, 72619256], [72628101, 72628190], [72629548, 72629654], [72630804, 72630903], [72631593, 72631743], [72633107, 72633346], [72635158, 72635305], [72636297, 72636418], [72636951, 72637092]]
ENST00000299297	[[72604253, 72604395], [72610899, 72610967], [72614464, 72614612], [72617370, 72617447], [72619127, 72619256], [72620149, 72620243]]	[[72604253, 72604395], [72610899, 72610967], [72614464, 72614612], [72617370, 72617447], [72619127, 72619256], [72620149, 72620194]]
ENST00000486993	[[72575716, 72575882], [72576566, 72576636], [72579939, 72580240]]	None
ENST00000409118	[[72614462, 72614612], [72617370, 72617447], [72619127, 72619362]]	[[72614462, 72614612], [72617370, 72617447], [72619127, 72619307]]
NM_003901	[[72575703, 72575882], [72576566, 72576636], [72604229, 72604395], [72610899, 72610967], [72614464, 72614612], [72617370, 72617447], [72619127, 72619256], [72628101, 72628190], [72629548, 72629654], [72630804, 72630903], [72631593, 72631743], [72633107, 72633346], [72635158, 72635305], [72636297, 72636418], [72636951, 72640946]]	[[72576609, 72576636], [72604229, 72604395], [72610899, 72610967], [72614464, 72614612], [72617370, 72617447], [72619127, 72619256], [72628101, 72628190], [72629548, 72629654], [72630804, 72630903], [72631593, 72631743], [72633107, 72633346], [72635158, 72635305], [72636297, 72636418], [72636951, 72637092]]

Promoter

Chrom	Start	End	Description
chr10	72575643	72575753	CAGE_peak_1_at_SGPL1_5end
chr10	72575788	72575797	CAGE_peak_5_at_SGPL1_5end
chr10	72576021	72576064	CAGE_peak_3_at_SGPL1_5end
chr10	72576095	72576115	CAGE_peak_7_at_SGPL1_5end
chr10	72576134	72576161	CAGE_peak_9_at_SGPL1_5end
chr10	72576221	72576232	CAGE_peak_14_at_SGPL1_5end
chr10	72576444	72576454	CAGE_peak_12_at_SGPL1_5end
chr10	72576468	72576497	CAGE_peak_2_at_SGPL1_5end
chr10	72576503	72576516	CAGE_peak_11_at_SGPL1_5end
chr10	72576547	72576568	CAGE_peak_10_at_SGPL1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I070549	70549965	70550114	0.74	[{'connected_gene': 'SGPL1', 'score': 11.45}, {'connected_gene': 'PCBD1', 'score': 11.27}, {'connected_gene': 'PRF1', 'score': 0.23}, {'connected_gene': 'YY1P1', 'score': 0.21}, {'connected_gene': 'PALD1', 'score': 0.16}]
chr10	GH10I070551	70551043	70553978	0.86	[{'connected_gene': 'SGPL1', 'score': 11.46}, {'connected_gene': 'PCBD1', 'score': 11.27}, {'connected_gene': 'PRF1', 'score': 0.23}, {'connected_gene': 'YY1P1', 'score': 0.2}, {'connected_gene': 'PALD1', 'score': 0.16}]
chr10	GH10I070890	70890571	70891534	0.81	[{'connected_gene': 'SGPL1', 'score': 8.89}, {'connected_gene': 'PCBD1', 'score': 8.7}, {'connected_gene': 'ENSG00000271409', 'score': 0.28}]
chr10	GH10I070854	70854004	70854153	0.59	[{'connected_gene': 'SGPL1', 'score': 11.31}, {'connected_gene': 'PCBD1', 'score': 11.08}, {'connected_gene': 'GC10P070863', 'score': 0.44}]
chr10	GH10I070849	70849289	70850680	0.57	[{'connected_gene': 'SGPL1', 'score': 31.94}, {'connected_gene': 'PCBD1', 'score': 11.33}, {'connected_gene': 'GC10P070863', 'score': 0.39}]
chr10	GH10I070831	70831316	70835057	1.28	[{'connected_gene': 'SGPL1', 'score': 30.93}, {'connected_gene': 'PCBD1', 'score': 21.33}, {'connected_gene': 'GC10P070863', 'score': 0.29}]
chr10	GH10I070828	70828681	70831295	0.64	[{'connected_gene': 'SGPL1', 'score': 28.47}, {'connected_gene': 'PCBD1', 'score': 16.05}, {'connected_gene': 'GC10P070863', 'score': 0.29}]
chr10	GH10I070835	70835842	70836754	0.64	[{'connected_gene': 'SGPL1', 'score': 11.63}, {'connected_gene': 'PCBD1', 'score': 10.59}, {'connected_gene': 'GC10P070863', 'score': 0.31}]
chr10	GH10I070851	70851331	70852295	0.79	[{'connected_gene': 'SGPL1', 'score': 39.4}, {'connected_gene': 'PCBD1', 'score': 17.06}, {'connected_gene': 'GC10P070863', 'score': 0.39}]
chr10	GH10I070858	70858284	70859513	0.43	[{'connected_gene': 'SGPL1', 'score': 32.11}, {'connected_gene': 'PCBD1', 'score': 16.41}, {'connected_gene': 'GC10P070863', 'score': 0.77}]
chr10	GH10I070740	70740465	70744920	1.55	[{'connected_gene': 'SGPL1', 'score': 1.32}, {'connected_gene': 'TBATA', 'score': 0.26}, {'connected_gene': 'ADAMTS14', 'score': 0.19}]
chr10	GH10I070843	70843469	70846414	0.67	[{'connected_gene': 'SGPL1', 'score': 39.54}, {'connected_gene': 'TYSND1', 'score': 9.71}, {'connected_gene': 'PCBD1', 'score': 5.8}, {'connected_gene': 'GC10P070863', 'score': 0.37}]
chr10	GH10I070866	70866177	70866871	0.57	[{'connected_gene': 'SGPL1', 'score': 20.6}, {'connected_gene': 'GC10P070863', 'score': 0.77}, {'connected_gene': 'PIR44090', 'score': 0.44}]
chr10	GH10I070815	70815244	70817682	2.04	[{'connected_gene': 'SGPL1', 'score': 571.23}, {'connected_gene': 'GC10P070863', 'score': 0.25}]
chr10	GH10I071632	71632824	71640331	1.49	[{'connected_gene': 'DNAJB12', 'score': 15.7}, {'connected_gene': 'CDH23', 'score': 11.1}, {'connected_gene': 'SLC29A3', 'score': 11.07}, {'connected_gene': 'CDH23-AS1', 'score': 10.9}, {'connected_gene': 'VSIR', 'score': 10.3}, {'connected_gene': 'PSAP', 'score': 5.96}, {'connected_gene': 'SGPL1', 'score': 5.32}, {'connected_gene': 'GC10P071695', 'score': 0.22}, {'connected_gene': 'LOC105378355', 'score': 0.18}]
chr10	GH10I070805	70804525	70804674	0.38	[{'connected_gene': 'PCBD1', 'score': 11.08}, {'connected_gene': 'SGPL1', 'score': 0.39}, {'connected_gene': 'RPS26P40', 'score': 0.39}]
chr10	GH10I070806	70806005	70806154	0.2	[{'connected_gene': 'PCBD1', 'score': 11.2}, {'connected_gene': 'SGPL1', 'score': 0.44}, {'connected_gene': 'RPS26P40', 'score': 0.39}]
chr10	GH10I070887	70887175	70889527	1.5	[{'connected_gene': 'PCBD1', 'score': 561.15}, {'connected_gene': 'SGPL1', 'score': 16.85}, {'connected_gene': 'PIR33878', 'score': 0.39}]
chr10	GH10I070803	70803745	70803894	0.2	[{'connected_gene': 'PCBD1', 'score': 16.18}, {'connected_gene': 'RPS26P40', 'score': 0.44}, {'connected_gene': 'SGPL1', 'score': 0.39}]
chr10	GH10I070804	70803977	70804239	0.2	[{'connected_gene': 'PCBD1', 'score': 11.08}, {'connected_gene': 'RPS26P40', 'score': 0.44}, {'connected_gene': 'SGPL1', 'score': 0.39}]
chr10	GH10I070779	70779097	70780463	0.83	[{'connected_gene': 'TBATA', 'score': 5.02}, {'connected_gene': 'SGPL1', 'score': 2.86}, {'connected_gene': 'ADAMTS14', 'score': 0.14}]
chr10	GH10I071212	71212064	71214797	2.49	[{'connected_gene': 'UNC5B', 'score': 558.25}, {'connected_gene': 'SGPL1', 'score': 12.24}, {'connected_gene': 'UNC5B-AS1', 'score': 0.77}]
chr10	GH10I070867	70867104	70867233	0.6	[{'connected_gene': 'GC10P070863', 'score': 0.77}, {'connected_gene': 'PIR44090', 'score': 0.44}, {'connected_gene': 'SGPL1', 'score': 0.23}]
chr10	GH10I070880	70880124	70880313	0.82	[{'connected_gene': 'PIR33878', 'score': 0.77}, {'connected_gene': 'PCBD1', 'score': 0.44}, {'connected_gene': 'SGPL1', 'score': 0.21}]