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
ENST00000411929	[[118846027, 118846117], [118860772, 118860897], [118864312, 118864479], [118864665, 118864765], [118865856, 118865948]]	[[118860886, 118860897], [118864312, 118864421]]
ENST00000471186	[[118846049, 118846117], [118860772, 118860897], [118864312, 118864479], [118865856, 118867596]]	None
ENST00000245787	[[118846049, 118846117], [118853994, 118854376], [118860772, 118860897], [118864312, 118864479], [118864665, 118864765], [118865856, 118867604]]	[[118854132, 118854376], [118860772, 118860897], [118864312, 118864479], [118864665, 118864765], [118865856, 118865898]]
ENST00000485520	[[118846049, 118846117], [118853994, 118854002], [118860772, 118860897], [118864312, 118864479], [118864665, 118864765], [118865856, 118868573]]	None
ENST00000467223	[[118846125, 118846242], [118853994, 118854002], [118860772, 118860897], [118864312, 118864479], [118864665, 118864765], [118865856, 118865966]]	None
ENST00000488995	[[118860113, 118860286], [118860772, 118860897], [118864312, 118864479], [118864665, 118864718]]	None
ENST00000479999	[[118864234, 118864479], [118864665, 118864765], [118865856, 118866043]]	None
NM_001321330	[[118845993, 118846117], [118860772, 118860897], [118864312, 118864479], [118864665, 118864765], [118865856, 118867607]]	[[118860852, 118860897], [118864312, 118864479], [118864665, 118864765], [118865856, 118865898]]
NM_001321333	[[118845993, 118846117], [118853994, 118854002], [118860772, 118860897], [118864312, 118864479], [118865856, 118867607]]	[[118860852, 118860897], [118864312, 118864479], [118865856, 118865938]]
NM_001321331	[[118845993, 118846117], [118853994, 118854002], [118860772, 118860897], [118864312, 118864479], [118864665, 118864765], [118865856, 118867607]]	[[118860852, 118860897], [118864312, 118864479], [118864665, 118864765], [118865856, 118865898]]
NM_016133	[[118845993, 118846117], [118853994, 118854376], [118860772, 118860897], [118864312, 118864479], [118864665, 118864765], [118865856, 118867607]]	[[118854132, 118854376], [118860772, 118860897], [118864312, 118864479], [118864665, 118864765], [118865856, 118865898]]
NM_001321332	[[118846125, 118846242], [118853994, 118854002], [118860772, 118860897], [118864312, 118864479], [118864665, 118864765], [118865856, 118867607]]	[[118860852, 118860897], [118864312, 118864479], [118864665, 118864765], [118865856, 118865898]]
NM_001321329	[[118846125, 118846242], [118853994, 118854376], [118860772, 118860897], [118864312, 118864479], [118864665, 118864765], [118865856, 118867607]]	[[118854132, 118854376], [118860772, 118860897], [118864312, 118864479], [118864665, 118864765], [118865856, 118865898]]

Promoter

Chrom	Start	End	Description
chr2	118846008	118846100	CAGE_peak_1_at_INSIG2_5end
chr2	118846114	118846125	CAGE_peak_6_at_INSIG2_5end
chr2	118854105	118854110	CAGE_peak_2_at_INSIG2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I118061	118061445	118061654	0.64	[{'connected_gene': 'DDX18', 'score': 5.16}, {'connected_gene': 'INSIG2', 'score': 0.31}, {'connected_gene': 'RN7SL111P', 'score': 0.25}]
chr2	GH02I118054	118054720	118056937	0.94	[{'connected_gene': 'HTR5BP', 'score': 10.48}, {'connected_gene': 'CCDC93', 'score': 5.91}, {'connected_gene': 'DDX18', 'score': 5.25}, {'connected_gene': 'INSIG2', 'score': 0.29}, {'connected_gene': 'RN7SL111P', 'score': 0.28}, {'connected_gene': 'LOC102723413', 'score': 0.21}]
chr2	GH02I118120	118120429	118120806	0.39	[{'connected_gene': 'CCDC93', 'score': 6.21}, {'connected_gene': 'HTR5BP', 'score': 4.25}, {'connected_gene': 'DDX18', 'score': 2.48}, {'connected_gene': 'GC02M118122', 'score': 0.77}, {'connected_gene': 'INSIG2', 'score': 0.29}]
chr2	GH02I118059	118059330	118061401	0.95	[{'connected_gene': 'CCDC93', 'score': 19.03}, {'connected_gene': 'INSIG2', 'score': 6.38}, {'connected_gene': 'DDX18', 'score': 5.56}, {'connected_gene': 'RN7SL111P', 'score': 0.26}]
chr2	GH02I118053	118053328	118053597	0.4	[{'connected_gene': 'CCDC93', 'score': 15.94}, {'connected_gene': 'INSIG2', 'score': 11.85}, {'connected_gene': 'LOC102723413', 'score': 9.82}, {'connected_gene': 'RN7SL111P', 'score': 0.28}]
chr2	GH02I118112	118112318	118114012	1.27	[{'connected_gene': 'CCDC93', 'score': 6.53}, {'connected_gene': 'INSIG2', 'score': 6.27}, {'connected_gene': 'GC02M118122', 'score': 0.44}]
chr2	GH02I117942	117942023	117943814	0.2	[{'connected_gene': 'CCDC93', 'score': 24.01}, {'connected_gene': 'LOC102723413', 'score': 11.51}, {'connected_gene': 'HTR5BP', 'score': 10.58}, {'connected_gene': 'INSIG2', 'score': 4.61}, {'connected_gene': 'ENSG00000224967', 'score': 0.44}, {'connected_gene': 'PIR61440', 'score': 0.39}]
chr2	GH02I117855	117855381	117857486	0.86	[{'connected_gene': 'CCDC93', 'score': 16.87}, {'connected_gene': 'LOC102723413', 'score': 10.53}, {'connected_gene': 'INSIG2', 'score': 6.07}, {'connected_gene': 'HTR5BP', 'score': 0.77}, {'connected_gene': 'ENSG00000236255', 'score': 0.34}, {'connected_gene': 'GC02P117861', 'score': 0.31}]
chr2	GH02I118145	118145908	118147230	0.72	[{'connected_gene': 'CCDC93', 'score': 15.35}, {'connected_gene': 'LOC102723413', 'score': 9.96}, {'connected_gene': 'INSIG2', 'score': 6.73}, {'connected_gene': 'GC02P118132', 'score': 0.39}, {'connected_gene': 'LOC100506797', 'score': 0.28}]
chr2	GH02I118118	118118625	118118774	0.64	[{'connected_gene': 'CCDC93', 'score': 9.46}, {'connected_gene': 'LOC102723413', 'score': 9.44}, {'connected_gene': 'GC02M118122', 'score': 0.77}, {'connected_gene': 'INSIG2', 'score': 0.29}]
chr2	GH02I118095	118095725	118095874	0.72	[{'connected_gene': 'CCDC93', 'score': 10.13}, {'connected_gene': 'LOC102723413', 'score': 10.1}, {'connected_gene': 'INSIG2', 'score': 0.44}, {'connected_gene': 'GC02M118122', 'score': 0.31}]
chr2	GH02I118101	118101761	118103854	0.38	[{'connected_gene': 'CCDC93', 'score': 9.48}, {'connected_gene': 'LOC102723413', 'score': 9.46}, {'connected_gene': 'INSIG2', 'score': 7.34}, {'connected_gene': 'GC02M118122', 'score': 0.37}]
chr2	GH02I118114	118114472	118116822	0.46	[{'connected_gene': 'CCDC93', 'score': 19.22}, {'connected_gene': 'LOC102723413', 'score': 9.44}, {'connected_gene': 'INSIG2', 'score': 7.2}, {'connected_gene': 'GC02M118122', 'score': 0.44}]
chr2	GH02I118084	118084746	118091000	2.54	[{'connected_gene': 'INSIG2', 'score': 564.82}, {'connected_gene': 'CCDC93', 'score': 9.91}, {'connected_gene': 'HTR5BP', 'score': 8.24}, {'connected_gene': 'DDX18', 'score': 4.19}, {'connected_gene': 'RN7SL111P', 'score': 0.19}]
chr2	GH02I118430	118430030	118431589	0.59	[{'connected_gene': 'INSIG2', 'score': 4.84}, {'connected_gene': 'LOC105373579', 'score': 0.21}, {'connected_gene': 'LOC105373578', 'score': 0.08}, {'connected_gene': 'GC02M118174', 'score': 0.07}]
chr2	GH02I118091	118091201	118091400	0.77	[{'connected_gene': 'INSIG2', 'score': 0.77}, {'connected_gene': 'GC02M118122', 'score': 0.29}]
chr2	GH02I118104	118104001	118104901	0.84	[{'connected_gene': 'INSIG2', 'score': 5.57}, {'connected_gene': 'GC02M118122', 'score': 0.37}]
chr2	GH02I118097	118097450	118099200	0.62	[{'connected_gene': 'INSIG2', 'score': 11.34}, {'connected_gene': 'GC02M118122', 'score': 0.34}]
chr2	GH02I118016	118016904	118017388	0.56	[{'connected_gene': 'RN7SL111P', 'score': 550.77}, {'connected_gene': 'CCDC93', 'score': 18.89}, {'connected_gene': 'DDX18', 'score': 2.5}, {'connected_gene': 'LOC102723413', 'score': 0.34}, {'connected_gene': 'INSIG2', 'score': 0.19}]
chr2	GH02I118047	118047201	118048156	0.6	[{'connected_gene': 'RN7SL111P', 'score': 10.74}, {'connected_gene': 'CCDC93', 'score': 10.74}, {'connected_gene': 'INSIG2', 'score': 0.26}, {'connected_gene': 'LOC102723413', 'score': 0.23}]
chr2	GH02I118051	118051990	118052306	0.51	[{'connected_gene': 'RN7SL111P', 'score': 0.28}, {'connected_gene': 'INSIG2', 'score': 0.28}, {'connected_gene': 'LOC102723413', 'score': 0.22}]
chr2	GH02I117935	117935004	117935456	0.2	[{'connected_gene': 'ENSG00000224967', 'score': 550.77}, {'connected_gene': 'CCDC93', 'score': 22.79}, {'connected_gene': 'LOC102723413', 'score': 10.28}, {'connected_gene': 'INSIG2', 'score': 4.33}, {'connected_gene': 'LOC101929908', 'score': 0.39}, {'connected_gene': 'PIR61440', 'score': 0.34}]
chr2	GH02I118121	118121948	118125391	1.14	[{'connected_gene': 'GC02M118122', 'score': 550.77}, {'connected_gene': 'INSIG2', 'score': 6.9}, {'connected_gene': 'DDX18', 'score': 6.66}, {'connected_gene': 'HTR5BP', 'score': 4.09}, {'connected_gene': 'GC02P118132', 'score': 0.44}]