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
ENST00000496009	[[130469267, 130469471], [130471700, 130471972], [130472959, 130473033], [130473507, 130473775], [130474098, 130474209], [130474477, 130475154], [130475298, 130475485], [130475719, 130476300]]	None
ENST00000373295	[[130469270, 130469471], [130471700, 130471972], [130472879, 130473033], [130473507, 130473775], [130474098, 130474229], [130474477, 130474628], [130474987, 130475154], [130475298, 130475485], [130476112, 130476302]]	[[130469310, 130469471], [130471700, 130471972], [130472879, 130473033], [130473507, 130473775], [130474098, 130474229], [130474477, 130474628], [130474987, 130475154], [130475298, 130475485], [130476112, 130476184]]
ENST00000373293	[[130474168, 130475154], [130477532, 130478175]]	[[130474903, 130475154], [130477532, 130477662]]
ENST00000464092	[[130474615, 130475154], [130476112, 130478281]]	None
ENST00000461104	[[130475016, 130475154], [130475298, 130475485], [130477532, 130477616]]	None
NM_001012502	[[130469270, 130469471], [130471700, 130471972], [130472879, 130473033], [130473507, 130473775], [130474098, 130474229], [130474477, 130474628], [130474987, 130475154], [130475298, 130475485], [130476112, 130476303]]	[[130469310, 130469471], [130471700, 130471972], [130472879, 130473033], [130473507, 130473775], [130474098, 130474229], [130474477, 130474628], [130474987, 130475154], [130475298, 130475485], [130476112, 130476184]]

Promoter

Chrom	Start	End	Description
chr9	130469257	130469288	CAGE_peak_1_at_C9orf117_5end
chr9	130469295	130469308	CAGE_peak_2_at_C9orf117_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I127582	127582809	127587000	1.26	[{'connected_gene': 'ZNF79', 'score': 12.32}, {'connected_gene': 'PTRH1', 'score': 11.22}, {'connected_gene': 'TTC16', 'score': 11.22}, {'connected_gene': 'CFAP157', 'score': 10.97}, {'connected_gene': 'ST6GALNAC4', 'score': 10.78}, {'connected_gene': 'PIP5KL1', 'score': 10.78}, {'connected_gene': 'ENG', 'score': 10.56}, {'connected_gene': 'RPL12', 'score': 10.51}, {'connected_gene': 'SNORA65', 'score': 10.4}, {'connected_gene': 'URM1', 'score': 10.35}, {'connected_gene': 'FPGS', 'score': 5.29}, {'connected_gene': 'STXBP1', 'score': 0.44}, {'connected_gene': 'GC09M127606', 'score': 0.34}]
chr9	GH09I127633	127633401	127634600	0.69	[{'connected_gene': 'STXBP1', 'score': 12.38}, {'connected_gene': 'CFAP157', 'score': 11.77}, {'connected_gene': 'TTC16', 'score': 11.75}, {'connected_gene': 'FAM129B', 'score': 11.3}, {'connected_gene': 'GC09M127606', 'score': 0.31}, {'connected_gene': 'MIR3911', 'score': 0.22}]
chr9	GH09I127637	127637239	127638231	1.18	[{'connected_gene': 'STXBP1', 'score': 12.2}, {'connected_gene': 'TTC16', 'score': 11.41}, {'connected_gene': 'CFAP157', 'score': 11.29}, {'connected_gene': 'FAM129B', 'score': 11.14}, {'connected_gene': 'GC09M127606', 'score': 0.31}, {'connected_gene': 'MIR3911', 'score': 0.23}]
chr9	GH09I127577	127577707	127581242	2.16	[{'connected_gene': 'FAM129B', 'score': 554.91}, {'connected_gene': 'STXBP1', 'score': 550.77}, {'connected_gene': 'CFAP157', 'score': 10.81}, {'connected_gene': 'TTC16', 'score': 10.8}, {'connected_gene': 'ENG', 'score': 10.37}, {'connected_gene': 'LOC102723566', 'score': 4.41}, {'connected_gene': 'RPL12', 'score': 4.34}, {'connected_gene': 'GC09M127606', 'score': 0.31}]
chr9	GH09I127641	127641861	127642669	0.6	[{'connected_gene': 'FAM129B', 'score': 15.02}, {'connected_gene': 'SLC2A8', 'score': 11.68}, {'connected_gene': 'TTC16', 'score': 11.42}, {'connected_gene': 'CFAP157', 'score': 11.3}, {'connected_gene': 'GC09M127606', 'score': 0.29}, {'connected_gene': 'MIR3911', 'score': 0.25}, {'connected_gene': 'STXBP1', 'score': 0.21}]
chr9	GH09I127654	127654257	127655238	0.58	[{'connected_gene': 'FAM129B', 'score': 15.78}, {'connected_gene': 'CFAP157', 'score': 12.25}, {'connected_gene': 'TTC16', 'score': 12.23}, {'connected_gene': 'STXBP1', 'score': 12.13}, {'connected_gene': 'PTRH1', 'score': 11.51}, {'connected_gene': 'MIR3911', 'score': 0.28}, {'connected_gene': 'GC09M127606', 'score': 0.25}]
chr9	GH09I127628	127628442	127630354	1.01	[{'connected_gene': 'FAM129B', 'score': 15.17}, {'connected_gene': 'CFAP157', 'score': 11.76}, {'connected_gene': 'TTC16', 'score': 11.74}, {'connected_gene': 'GC09M127606', 'score': 0.34}, {'connected_gene': 'STXBP1', 'score': 0.23}, {'connected_gene': 'MIR3911', 'score': 0.21}]
chr9	GH09I127694	127694855	127695876	0.51	[{'connected_gene': 'FAM129B', 'score': 11.3}, {'connected_gene': 'SNORA65', 'score': 9.74}, {'connected_gene': 'ENSG00000279571', 'score': 0.77}, {'connected_gene': 'CFAP157', 'score': 0.39}, {'connected_gene': 'PTRH1', 'score': 0.31}, {'connected_gene': 'STXBP1', 'score': 0.13}]
chr9	GH09I127831	127831802	127841421	1.58	[{'connected_gene': 'FAM129B', 'score': 12.03}, {'connected_gene': 'FPGS', 'score': 7.46}, {'connected_gene': 'CDK9', 'score': 5.92}, {'connected_gene': 'LOC102723566', 'score': 5.69}, {'connected_gene': 'CFAP157', 'score': 5.39}, {'connected_gene': 'TOR2A', 'score': 4.65}, {'connected_gene': 'SH2D3C', 'score': 1.5}, {'connected_gene': 'RNA5SP296', 'score': 0.77}, {'connected_gene': 'ENSG00000222421', 'score': 0.77}, {'connected_gene': 'ENG', 'score': 0.37}]
chr9	GH09I127416	127416722	127419563	1.03	[{'connected_gene': 'RPL12', 'score': 36.82}, {'connected_gene': 'SLC2A8', 'score': 17.58}, {'connected_gene': 'SNORA65', 'score': 12.02}, {'connected_gene': 'GARNL3', 'score': 11.28}, {'connected_gene': 'ENSG00000228487', 'score': 11.28}, {'connected_gene': 'CFAP157', 'score': 10.47}, {'connected_gene': 'TTC16', 'score': 10.46}, {'connected_gene': 'GC09M127421', 'score': 0.44}, {'connected_gene': 'PIR59639', 'score': 0.37}]
chr9	GH09I127660	127660557	127662286	0.58	[{'connected_gene': 'CFAP157', 'score': 12.27}, {'connected_gene': 'TTC16', 'score': 12.25}, {'connected_gene': 'STXBP1', 'score': 12.12}, {'connected_gene': 'PTRH1', 'score': 11.53}, {'connected_gene': 'FAM129B', 'score': 10.89}, {'connected_gene': 'MIR3911', 'score': 0.31}, {'connected_gene': 'GC09M127606', 'score': 0.23}]
chr9	GH09I127662	127662321	127663515	0.2	[{'connected_gene': 'CFAP157', 'score': 12.28}, {'connected_gene': 'TTC16', 'score': 12.25}, {'connected_gene': 'STXBP1', 'score': 12.12}, {'connected_gene': 'PTRH1', 'score': 11.62}, {'connected_gene': 'FAM129B', 'score': 10.89}, {'connected_gene': 'MIR3911', 'score': 0.31}, {'connected_gene': 'GC09M127606', 'score': 0.23}]
chr9	GH09I127682	127682862	127685374	0.72	[{'connected_gene': 'CFAP157', 'score': 12.46}, {'connected_gene': 'TTC16', 'score': 12.41}, {'connected_gene': 'FAM129B', 'score': 10.89}, {'connected_gene': 'TOR2A', 'score': 8.64}, {'connected_gene': 'MIR3911', 'score': 0.44}, {'connected_gene': 'GC09M127606', 'score': 0.18}, {'connected_gene': 'STXBP1', 'score': 0.15}]
chr9	GH09I127706	127706902	127707071	1.04	[{'connected_gene': 'CFAP157', 'score': 550.77}, {'connected_gene': 'PTRH1', 'score': 0.37}, {'connected_gene': 'ENSG00000279571', 'score': 0.37}]
chr9	GH09I127707	127707782	127707951	0.64	[{'connected_gene': 'CFAP157', 'score': 550.77}, {'connected_gene': 'PIR55229', 'score': 0.77}, {'connected_gene': 'PTRH1', 'score': 0.37}]
chr9	GH09I127414	127414821	127415942	0.52	[{'connected_gene': 'SNORA65', 'score': 11.64}, {'connected_gene': 'ENSG00000228487', 'score': 11.28}, {'connected_gene': 'GARNL3', 'score': 11.28}, {'connected_gene': 'CFAP157', 'score': 10.46}, {'connected_gene': 'TTC16', 'score': 10.46}, {'connected_gene': 'GC09M127421', 'score': 0.44}, {'connected_gene': 'PIR59639', 'score': 0.37}]
chr9	GH09I127644	127644061	127646825	0.38	[{'connected_gene': 'TTC16', 'score': 17.12}, {'connected_gene': 'STXBP1', 'score': 12.96}, {'connected_gene': 'CFAP157', 'score': 11.47}, {'connected_gene': 'PTRH1', 'score': 11.41}, {'connected_gene': 'FAM129B', 'score': 11.02}, {'connected_gene': 'SLC25A25', 'score': 9.92}, {'connected_gene': 'NAIF1', 'score': 9.92}, {'connected_gene': 'GC09M127606', 'score': 0.28}, {'connected_gene': 'MIR3911', 'score': 0.25}]
chr9	GH09I127698	127698388	127701055	1.67	[{'connected_gene': 'TTC16', 'score': 6.31}, {'connected_gene': 'ST6GALNAC6', 'score': 1.73}, {'connected_gene': 'STXBP1', 'score': 1.73}, {'connected_gene': 'GARNL3', 'score': 1.52}, {'connected_gene': 'PIP5KL1', 'score': 1.35}, {'connected_gene': 'SLC25A25', 'score': 1.18}, {'connected_gene': 'ENSG00000279571', 'score': 0.44}, {'connected_gene': 'CFAP157', 'score': 0.44}, {'connected_gene': 'PTRH1', 'score': 0.31}]
chr9	GH09I127714	127714138	127716836	2.02	[{'connected_gene': 'TTC16', 'score': 557.14}, {'connected_gene': 'PTRH1', 'score': 550.44}, {'connected_gene': 'ZNF79', 'score': 17.24}, {'connected_gene': 'ODF2', 'score': 16.18}, {'connected_gene': 'GLE1', 'score': 15.47}, {'connected_gene': 'NAIF1', 'score': 15.2}, {'connected_gene': 'ENSG00000272593', 'score': 10.15}, {'connected_gene': 'GARNL3', 'score': 10.04}, {'connected_gene': 'TOR2A', 'score': 5.74}, {'connected_gene': 'PIR55229', 'score': 0.77}, {'connected_gene': 'CFAP157', 'score': 0.44}]
chr9	GH09I127590	127589202	127589351	0.58	[{'connected_gene': 'TTC16', 'score': 11.66}, {'connected_gene': 'PTRH1', 'score': 11.65}, {'connected_gene': 'CFAP157', 'score': 11.35}, {'connected_gene': 'STXBP1', 'score': 0.44}, {'connected_gene': 'GC09M127606', 'score': 0.37}]
chr9	GH09I127589	127589801	127590401	1.2	[{'connected_gene': 'TTC16', 'score': 11.66}, {'connected_gene': 'PTRH1', 'score': 11.65}, {'connected_gene': 'CFAP157', 'score': 11.35}, {'connected_gene': 'STXBP1', 'score': 0.39}, {'connected_gene': 'GC09M127606', 'score': 0.37}]
chr9	GH09I128053	128053401	128058524	1.5	[{'connected_gene': 'ENSG00000230848', 'score': 550.77}, {'connected_gene': 'MIGA2', 'score': 9.77}, {'connected_gene': 'NAIF1', 'score': 6.92}, {'connected_gene': 'SLC25A25-AS1', 'score': 6.91}, {'connected_gene': 'PTGES2-AS1', 'score': 6.31}, {'connected_gene': 'SLC27A4', 'score': 4.91}, {'connected_gene': 'PIP5KL1', 'score': 4.34}, {'connected_gene': 'FAM102A', 'score': 3.81}, {'connected_gene': 'DPM2', 'score': 1.76}, {'connected_gene': 'SH2D3C', 'score': 1.5}, {'connected_gene': 'TTC16', 'score': 1.34}, {'connected_gene': 'CFAP157', 'score': 1.15}]
chr9	GH09I127697	127697514	127697880	0.31	[{'connected_gene': 'ENSG00000279571', 'score': 0.44}, {'connected_gene': 'CFAP157', 'score': 0.44}, {'connected_gene': 'PTRH1', 'score': 0.31}]
chr9	GH09I127710	127710818	127712611	0.73	[{'connected_gene': 'PIR55229', 'score': 550.77}, {'connected_gene': 'TTC16', 'score': 0.77}, {'connected_gene': 'CFAP157', 'score': 0.77}, {'connected_gene': 'PTRH1', 'score': 0.39}]