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
ENST00000366649	[[231359508, 231360160], [231361216, 231361269], [231362484, 231362571], [231362718, 231362814], [231364895, 231364955], [231374602, 231374934], [231376769, 231376913]]	[[231360024, 231360160], [231361216, 231361269], [231362484, 231362571], [231362718, 231362814], [231364895, 231364955], [231374602, 231374934], [231376769, 231376887]]
ENST00000318906	[[231359508, 231361269], [231362484, 231362571], [231362718, 231362814], [231364895, 231364955], [231374602, 231374934], [231376769, 231376916]]	[[231361212, 231361269], [231362484, 231362571], [231362718, 231362814], [231364895, 231364955], [231374602, 231374934], [231376769, 231376887]]
ENST00000366651	[[231359508, 231360160], [231361216, 231361269], [231362484, 231362571], [231362718, 231362814], [231364895, 231364952], [231374602, 231374934], [231376769, 231376924]]	[[231360024, 231360160], [231361216, 231361269], [231362484, 231362571], [231362718, 231362814], [231364895, 231364952], [231374602, 231374934], [231376769, 231376887]]
ENST00000451322	[[231360000, 231360160], [231361216, 231361269], [231362484, 231362571], [231362718, 231362814], [231374602, 231374934], [231376769, 231376836]]	[[231360024, 231360160], [231361216, 231361269], [231362484, 231362571], [231362718, 231362814], [231374602, 231374934], [231376769, 231376836]]
ENST00000462669	[[231360060, 231360160], [231361216, 231361668]]	None
ENST00000486384	[[231361248, 231361269], [231362136, 231362238], [231362484, 231362571], [231362718, 231362814], [231364895, 231364952], [231374602, 231374639]]	None
ENST00000495795	[[231362131, 231362571], [231362718, 231362814], [231364895, 231364955]]	None
ENST00000471936	[[231372441, 231374934], [231376769, 231376933]]	None
NM_152379	[[231359508, 231360160], [231361216, 231361269], [231362484, 231362571], [231362718, 231362814], [231364895, 231364955], [231374602, 231374934], [231376769, 231376933]]	[[231360024, 231360160], [231361216, 231361269], [231362484, 231362571], [231362718, 231362814], [231364895, 231364955], [231374602, 231374934], [231376769, 231376887]]
NM_001300830	[[231359508, 231360160], [231361216, 231361269], [231362484, 231362571], [231362718, 231362814], [231364895, 231364952], [231374602, 231374934], [231376769, 231376933]]	[[231360024, 231360160], [231361216, 231361269], [231362484, 231362571], [231362718, 231362814], [231364895, 231364952], [231374602, 231374934], [231376769, 231376887]]

Promoter

Chrom	Start	End	Description
chr1	231361742	231361744	CAGE_peak_2_at_C1orf131_5end
chr1	231376852	231376865	CAGE_peak_3_at_C1orf131_5end
chr1	231376867	231376943	CAGE_peak_1_at_C1orf131_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I230862	230862818	230870460	2.68	[{'connected_gene': 'C1orf198', 'score': 564.36}, {'connected_gene': 'LOC101927604', 'score': 18.9}, {'connected_gene': 'C1orf131', 'score': 12.57}, {'connected_gene': 'FAM89A', 'score': 7.13}, {'connected_gene': 'ENSG00000225656', 'score': 0.26}]
chr1	GH01I231215	231215201	231215600	0.43	[{'connected_gene': 'GNPAT', 'score': 11.08}, {'connected_gene': 'C1orf131', 'score': 11.08}, {'connected_gene': 'FAM89A', 'score': 10.77}, {'connected_gene': 'LOC149373', 'score': 0.31}, {'connected_gene': 'TRIM67', 'score': 0.23}]
chr1	GH01I231231	231231649	231237508	1.08	[{'connected_gene': 'GNPAT', 'score': 7.59}, {'connected_gene': 'C1orf131', 'score': 0.44}, {'connected_gene': 'LOC149373', 'score': 0.25}]
chr1	GH01I231240	231240062	231243002	2.07	[{'connected_gene': 'GNPAT', 'score': 574.93}, {'connected_gene': 'C1orf131', 'score': 550.77}, {'connected_gene': 'GC01P231282', 'score': 0.28}]
chr1	GH01I231248	231248895	231249044	0.72	[{'connected_gene': 'GNPAT', 'score': 0.44}, {'connected_gene': 'C1orf131', 'score': 0.44}, {'connected_gene': 'GC01P231282', 'score': 0.29}]
chr1	GH01I231333	231333800	231341097	2.29	[{'connected_gene': 'SPRTN', 'score': 567.65}, {'connected_gene': 'EXOC8', 'score': 550.77}, {'connected_gene': 'PIR33664', 'score': 550.77}, {'connected_gene': 'C1orf131', 'score': 12.82}, {'connected_gene': 'LINC00582', 'score': 10.38}, {'connected_gene': 'EGLN1', 'score': 10.16}, {'connected_gene': 'DISC1', 'score': 10.04}, {'connected_gene': 'GC01P231312', 'score': 0.31}]
chr1	GH01I230395	230395645	230398572	0.6	[{'connected_gene': 'PGBD5', 'score': 18.85}, {'connected_gene': 'NUP133', 'score': 14.54}, {'connected_gene': 'C1orf131', 'score': 12.33}, {'connected_gene': 'URB2', 'score': 10.13}, {'connected_gene': 'LOC101927604', 'score': 5.91}, {'connected_gene': 'GC01M230385', 'score': 0.39}]
chr1	GH01I230976	230976824	230980430	2.31	[{'connected_gene': 'TTC13', 'score': 564.67}, {'connected_gene': 'ARV1', 'score': 560.28}, {'connected_gene': 'C1orf131', 'score': 12.59}, {'connected_gene': 'EXOC8', 'score': 6.17}, {'connected_gene': 'FAM89A', 'score': 5.84}, {'connected_gene': 'LOC101927604', 'score': 4.32}, {'connected_gene': 'SPRTN', 'score': 2.76}, {'connected_gene': 'GC01P230904', 'score': 0.19}]
chr1	GH01I231527	231527091	231531007	2.42	[{'connected_gene': 'TSNAX', 'score': 557.03}, {'connected_gene': 'TSNAX-DISC1', 'score': 550.77}, {'connected_gene': 'ENSG00000233461', 'score': 550.77}, {'connected_gene': 'C1orf131', 'score': 15.79}, {'connected_gene': 'COG2', 'score': 10.83}, {'connected_gene': 'DISC1', 'score': 6.11}, {'connected_gene': 'GNPAT', 'score': 5.53}, {'connected_gene': 'EXOC8', 'score': 4.66}, {'connected_gene': 'SPRTN', 'score': 1.98}, {'connected_gene': 'GC01P231515', 'score': 0.39}, {'connected_gene': 'GC01P231590', 'score': 0.21}, {'connected_gene': 'GC01P231591', 'score': 0.21}]
chr1	GH01I230500	230500929	230504528	0.69	[{'connected_gene': 'NUP133', 'score': 24.03}, {'connected_gene': 'C1orf131', 'score': 13.86}, {'connected_gene': 'TAF5L', 'score': 11.12}, {'connected_gene': 'ABCB10', 'score': 10.68}, {'connected_gene': 'HMGN2P19', 'score': 9.88}, {'connected_gene': 'URB2', 'score': 9.7}, {'connected_gene': 'LOC105373164', 'score': 0.44}, {'connected_gene': 'LOC105373165', 'score': 0.25}]
chr1	GH01I231418	231418000	231423944	2.32	[{'connected_gene': 'EGLN1', 'score': 561.46}, {'connected_gene': 'SPRTN', 'score': 15.88}, {'connected_gene': 'COG2', 'score': 13.14}, {'connected_gene': 'C1orf131', 'score': 12.76}, {'connected_gene': 'PIR59803', 'score': 0.22}]
chr1	GH01I231393	231393211	231397206	1.34	[{'connected_gene': 'EGLN1', 'score': 20.43}, {'connected_gene': 'SPRTN', 'score': 18.67}, {'connected_gene': 'C1orf131', 'score': 15.83}, {'connected_gene': 'COG2', 'score': 10.84}, {'connected_gene': 'EXOC8', 'score': 10.4}, {'connected_gene': 'GNPAT', 'score': 4.84}, {'connected_gene': 'PIR59803', 'score': 0.31}]
chr1	GH01I231037	231037484	231041518	2.04	[{'connected_gene': 'FAM89A', 'score': 560.61}, {'connected_gene': 'C1orf131', 'score': 62.98}, {'connected_gene': 'COG2', 'score': 18.64}, {'connected_gene': 'ARV1', 'score': 10.98}, {'connected_gene': 'SPRTN', 'score': 10.81}, {'connected_gene': 'LOC644006', 'score': 5.6}]
chr1	GH01I231625	231625939	231629214	2.04	[{'connected_gene': 'DISC1', 'score': 569.02}, {'connected_gene': 'C1orf131', 'score': 36.11}, {'connected_gene': 'SPRTN', 'score': 11.81}, {'connected_gene': 'ARV1', 'score': 10.8}, {'connected_gene': 'COG2', 'score': 9.77}, {'connected_gene': 'RNU5A-5P', 'score': 0.26}, {'connected_gene': 'TSNAX-DISC1', 'score': 0.15}]
chr1	GH01I230391	230391221	230393682	0.57	[{'connected_gene': 'C1orf131', 'score': 15.17}, {'connected_gene': 'NUP133', 'score': 12.69}, {'connected_gene': 'PGBD5', 'score': 12.65}, {'connected_gene': 'HMGN2P19', 'score': 10.63}, {'connected_gene': 'GC01M230385', 'score': 0.44}]
chr1	GH01I231389	231389431	231391713	0.92	[{'connected_gene': 'C1orf131', 'score': 14.37}, {'connected_gene': 'EGLN1', 'score': 12.29}, {'connected_gene': 'COG2', 'score': 10.49}, {'connected_gene': 'SPRTN', 'score': 7.87}, {'connected_gene': 'PIR59803', 'score': 0.31}]
chr1	GH01I230971	230971786	230973962	0.94	[{'connected_gene': 'C1orf131', 'score': 16.2}, {'connected_gene': 'FAM89A', 'score': 14.86}, {'connected_gene': 'ARV1', 'score': 10.23}, {'connected_gene': 'COG2', 'score': 9.86}, {'connected_gene': 'TTC13', 'score': 9.07}, {'connected_gene': 'C1orf198', 'score': 4.4}, {'connected_gene': 'GC01P230904', 'score': 0.2}]
chr1	GH01I231603	231603551	231604764	1.08	[{'connected_gene': 'C1orf131', 'score': 25.93}, {'connected_gene': 'DISC1', 'score': 17.38}, {'connected_gene': 'EGLN1', 'score': 10.3}, {'connected_gene': 'COG2', 'score': 9.83}, {'connected_gene': 'GNPAT', 'score': 9.79}, {'connected_gene': 'SPRTN', 'score': 4.86}, {'connected_gene': 'LINC00582', 'score': 0.44}, {'connected_gene': 'GC01P231590', 'score': 0.39}, {'connected_gene': 'GC01P231591', 'score': 0.39}, {'connected_gene': 'TSNAX-DISC1', 'score': 0.18}]
chr1	GH01I231733	231733015	231733822	0.77	[{'connected_gene': 'C1orf131', 'score': 46.95}, {'connected_gene': 'DISC1', 'score': 2.49}, {'connected_gene': 'GC01P231693', 'score': 0.28}, {'connected_gene': 'ENSG00000274121', 'score': 0.18}, {'connected_gene': 'TSNAX-DISC1', 'score': 0.08}]
chr1	GH01I231806	231806600	231807200	0.8	[{'connected_gene': 'C1orf131', 'score': 12.94}, {'connected_gene': 'DISC1', 'score': 11.62}, {'connected_gene': 'ENSG00000274121', 'score': 0.44}, {'connected_gene': 'GC01P231693', 'score': 0.14}, {'connected_gene': 'TSNAX-DISC1', 'score': 0.06}]
chr1	GH01I231210	231210955	231212917	1.44	[{'connected_gene': 'C1orf131', 'score': 31.44}, {'connected_gene': 'COG2', 'score': 21.34}, {'connected_gene': 'GNPAT', 'score': 16.79}, {'connected_gene': 'FAM89A', 'score': 10.8}, {'connected_gene': 'LOC644006', 'score': 10.8}, {'connected_gene': 'MIR1182', 'score': 10.8}, {'connected_gene': 'LOC101927604', 'score': 10.36}, {'connected_gene': 'C1orf198', 'score': 10.35}, {'connected_gene': 'SPRTN', 'score': 1.39}, {'connected_gene': 'LOC149373', 'score': 0.34}, {'connected_gene': 'TRIM67', 'score': 0.25}]
chr1	GH01I231105	231105798	231106881	0.91	[{'connected_gene': 'C1orf131', 'score': 12.42}, {'connected_gene': 'LOC100288703', 'score': 0.39}, {'connected_gene': 'GC01M231050', 'score': 0.25}]
chr1	GH01I230902	230902385	230902708	0.24	[{'connected_gene': 'LOC101927604', 'score': 11.24}, {'connected_gene': 'C1orf198', 'score': 11.18}, {'connected_gene': 'ARV1', 'score': 7.74}, {'connected_gene': 'TTC13', 'score': 3.64}, {'connected_gene': 'COG2', 'score': 2.27}, {'connected_gene': 'C1orf131', 'score': 1.62}, {'connected_gene': 'GNPAT', 'score': 1.29}, {'connected_gene': 'GC01P230904', 'score': 0.77}, {'connected_gene': 'RN7SL837P', 'score': 0.44}]
chr1	GH01I231292	231292455	231292569	0.22	[{'connected_gene': 'GC01M231293', 'score': 550.77}, {'connected_gene': 'GNPAT', 'score': 11.08}, {'connected_gene': 'C1orf131', 'score': 11.08}, {'connected_gene': 'RNA5SP80', 'score': 0.39}]
chr1	GH01I231272	231272995	231273144	0.38	[{'connected_gene': 'GC01P231282', 'score': 0.44}, {'connected_gene': 'GNPAT', 'score': 0.29}, {'connected_gene': 'C1orf131', 'score': 0.29}]
chr1	GH01I230820	230820574	230828814	1.21	[{'connected_gene': 'ENSG00000225656', 'score': 550.77}, {'connected_gene': 'C1orf131', 'score': 27.19}, {'connected_gene': 'C1orf198', 'score': 18.03}, {'connected_gene': 'LOC101927604', 'score': 17.36}, {'connected_gene': 'CAPN9', 'score': 13.03}, {'connected_gene': 'COG2', 'score': 9.46}, {'connected_gene': 'ENSG00000244137', 'score': 5.88}, {'connected_gene': 'RNA5SP79', 'score': 0.77}]