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
ENST00000376834	[[77595935, 77598784], [77599822, 77599926], [77611362, 77611476], [77613513, 77613692], [77614645, 77614786], [77631183, 77631347], [77632168, 77632364], [77642927, 77643310]]	[[77598682, 77598784], [77599822, 77599926], [77611362, 77611476], [77613513, 77613692], [77614645, 77614786], [77631183, 77631347], [77632168, 77632364], [77642927, 77643157]]
ENST00000376837	[[77599831, 77599926], [77611362, 77611476], [77613513, 77613692], [77631183, 77631347], [77632168, 77632364], [77642927, 77643189]]	[[77613691, 77613692], [77631183, 77631347], [77632168, 77632364], [77642927, 77643157]]
ENST00000451153	[[77613525, 77613692], [77614645, 77614786], [77631183, 77631347], [77632168, 77632364], [77641968, 77642015]]	[[77613525, 77613692], [77614645, 77614786], [77631183, 77631347], [77632168, 77632364], [77641968, 77642015]]
ENST00000376830	[[77631764, 77632364], [77642927, 77643339]]	[[77632132, 77632364], [77642927, 77643157]]
NM_001320497	[[77595709, 77598784], [77599822, 77599926], [77611362, 77611476], [77613513, 77613692], [77614645, 77614786], [77631183, 77631347], [77632168, 77632364], [77641968, 77642067]]	[[77598682, 77598784], [77599822, 77599926], [77611362, 77611476], [77613513, 77613692], [77614645, 77614786], [77631183, 77631347], [77632168, 77632357]]
NM_152420	[[77595709, 77598784], [77599822, 77599926], [77611362, 77611476], [77613513, 77613692], [77614645, 77614786], [77631183, 77631347], [77632168, 77632364], [77642927, 77643346]]	[[77598682, 77598784], [77599822, 77599926], [77611362, 77611476], [77613513, 77613692], [77614645, 77614786], [77631183, 77631347], [77632168, 77632364], [77642927, 77643157]]
NR_135282	[[77595709, 77598784], [77599822, 77599926], [77611362, 77611476], [77613513, 77613692], [77631183, 77631347], [77632168, 77632364], [77642927, 77643346]]	None

Promoter

Chrom	Start	End	Description
chr9	77643190	77643246	CAGE_peak_1_at_C9orf41_5end
chr9	77643307	77643366	CAGE_peak_2_at_C9orf41_5end
chr9	77643380	77643396	CAGE_peak_3_at_C9orf41_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I075038	75038331	75040177	0.43	[{'connected_gene': 'C9orf40', 'score': 6.61}, {'connected_gene': 'CARNMT1', 'score': 0.39}, {'connected_gene': 'NMRK1', 'score': 0.25}, {'connected_gene': 'GC09P074993', 'score': 0.25}]
chr9	GH09I074951	74951190	74954495	2.01	[{'connected_gene': 'C9orf40', 'score': 558.78}, {'connected_gene': 'C9orf41-AS1', 'score': 550.77}, {'connected_gene': 'NMRK1', 'score': 17.39}, {'connected_gene': 'OSTF1', 'score': 17.23}, {'connected_gene': 'CARNMT1', 'score': 10.76}, {'connected_gene': 'TRPM6', 'score': 10.61}, {'connected_gene': 'RNU6-445P', 'score': 10.6}, {'connected_gene': 'LOC100133316', 'score': 0.37}]
chr9	GH09I075110	75110717	75112031	0.78	[{'connected_gene': 'NMRK1', 'score': 32.93}, {'connected_gene': 'OSTF1', 'score': 11.73}, {'connected_gene': 'CARNMT1', 'score': 10.76}, {'connected_gene': 'LOC105376090', 'score': 0.26}]
chr9	GH09I075084	75084978	75090116	2.2	[{'connected_gene': 'NMRK1', 'score': 607.68}, {'connected_gene': 'OSTF1', 'score': 550.77}, {'connected_gene': 'CARNMT1', 'score': 0.22}]
chr9	GH09I075121	75121485	75122256	0.51	[{'connected_gene': 'NMRK1', 'score': 32.68}, {'connected_gene': 'OSTF1', 'score': 11.48}, {'connected_gene': 'RNU6-1228P', 'score': 9.98}, {'connected_gene': 'CARNMT1', 'score': 9.95}, {'connected_gene': 'TRPM6', 'score': 9.69}, {'connected_gene': 'LOC105376090', 'score': 0.31}]
chr9	GH09I075117	75117166	75121407	0.49	[{'connected_gene': 'NMRK1', 'score': 28.46}, {'connected_gene': 'OSTF1', 'score': 11.48}, {'connected_gene': 'RNU6-1228P', 'score': 9.98}, {'connected_gene': 'CARNMT1', 'score': 9.97}, {'connected_gene': 'TRPM6', 'score': 9.69}, {'connected_gene': 'LOC105376090', 'score': 0.29}]
chr9	GH09I075094	75094401	75095600	0.4	[{'connected_gene': 'NMRK1', 'score': 16.09}, {'connected_gene': 'CARNMT1', 'score': 10.54}, {'connected_gene': 'OSTF1', 'score': 0.44}, {'connected_gene': 'LOC105376090', 'score': 0.22}]
chr9	GH09I075096	75096289	75098393	0.31	[{'connected_gene': 'NMRK1', 'score': 57.48}, {'connected_gene': 'CARNMT1', 'score': 10.92}, {'connected_gene': 'TRPM6', 'score': 10.07}, {'connected_gene': 'RNU6-1228P', 'score': 10.06}, {'connected_gene': 'OSTF1', 'score': 0.44}, {'connected_gene': 'LOC105376090', 'score': 0.23}]
chr9	GH09I075106	75106654	75109767	1	[{'connected_gene': 'NMRK1', 'score': 17.85}, {'connected_gene': 'CARNMT1', 'score': 10.33}, {'connected_gene': 'RNU6-445P', 'score': 9.92}, {'connected_gene': 'TRPM6', 'score': 9.53}, {'connected_gene': 'OSTF1', 'score': 0.37}, {'connected_gene': 'LOC105376090', 'score': 0.26}]
chr9	GH09I075077	75077265	75077414	0.59	[{'connected_gene': 'NMRK1', 'score': 0.39}, {'connected_gene': 'CARNMT1', 'score': 0.25}]
chr9	GH09I075082	75082785	75084797	1.19	[{'connected_gene': 'NMRK1', 'score': 57.47}, {'connected_gene': 'CARNMT1', 'score': 0.22}]
chr9	GH09I075071	75071487	75072404	0.85	[{'connected_gene': 'NMRK1', 'score': 12.61}, {'connected_gene': 'CARNMT1', 'score': 0.26}]
chr9	GH09I074950	74949801	74950400	0.38	[{'connected_gene': 'TRPM6', 'score': 10.37}, {'connected_gene': 'CARNMT1', 'score': 10.14}, {'connected_gene': 'OSTF1', 'score': 9.87}, {'connected_gene': 'NMRK1', 'score': 9.87}, {'connected_gene': 'RNU6-445P', 'score': 9.83}, {'connected_gene': 'C9orf40', 'score': 0.77}, {'connected_gene': 'LOC100133316', 'score': 0.39}]
chr9	GH09I074949	74949005	74949154	0.65	[{'connected_gene': 'TRPM6', 'score': 10.37}, {'connected_gene': 'CARNMT1', 'score': 10.14}, {'connected_gene': 'OSTF1', 'score': 9.87}, {'connected_gene': 'NMRK1', 'score': 9.87}, {'connected_gene': 'RNU6-445P', 'score': 9.83}, {'connected_gene': 'C9orf40', 'score': 0.77}, {'connected_gene': 'LOC100133316', 'score': 0.39}]
chr9	GH09I075026	75026141	75029223	2.02	[{'connected_gene': 'CARNMT1', 'score': 550.77}, {'connected_gene': 'C9orf40', 'score': 6.76}, {'connected_gene': 'ENSG00000278040', 'score': 0.39}, {'connected_gene': 'GC09P074993', 'score': 0.29}]
chr9	GH09I075100	75100632	75101874	1.1	[{'connected_gene': 'CARNMT1', 'score': 10.91}, {'connected_gene': 'NMRK1', 'score': 10.9}, {'connected_gene': 'TRPM6', 'score': 10.07}, {'connected_gene': 'RNU6-1228P', 'score': 10.06}, {'connected_gene': 'OSTF1', 'score': 0.39}, {'connected_gene': 'LOC105376090', 'score': 0.23}]
chr9	GH09I075064	75064305	75065054	0.31	[{'connected_gene': 'CARNMT1', 'score': 11.6}, {'connected_gene': 'NMRK1', 'score': 6.4}]
chr9	GH09I075000	75000410	75002495	0.93	[{'connected_gene': 'CARNMT1', 'score': 11.94}, {'connected_gene': 'OSTF1', 'score': 11.19}, {'connected_gene': 'NMRK1', 'score': 11.19}, {'connected_gene': 'C9orf40', 'score': 8.63}, {'connected_gene': 'GC09P074993', 'score': 0.44}, {'connected_gene': 'ENSG00000229587', 'score': 0.39}]
chr9	GH09I074973	74973978	74974233	0.4	[{'connected_gene': 'CARNMT1', 'score': 10.95}, {'connected_gene': 'TRPM6', 'score': 10.45}, {'connected_gene': 'NMRK1', 'score': 4.62}, {'connected_gene': 'GC09M074976', 'score': 0.44}, {'connected_gene': 'GC09P074962', 'score': 0.39}, {'connected_gene': 'C9orf41-AS1', 'score': 0.34}]
chr9	GH09I075054	75054388	75054702	0.53	[{'connected_gene': 'CARNMT1', 'score': 12.03}, {'connected_gene': 'TRPM6', 'score': 10.23}, {'connected_gene': 'NMRK1', 'score': 0.29}]
chr9	GH09I075107	75106308	75106427	0.4	[{'connected_gene': 'CARNMT1', 'score': 10.07}, {'connected_gene': 'TRPM6', 'score': 9.53}, {'connected_gene': 'OSTF1', 'score': 0.37}, {'connected_gene': 'LOC105376090', 'score': 0.25}]
chr9	GH09I075105	75105985	75106134	0.4	[{'connected_gene': 'CARNMT1', 'score': 10.07}, {'connected_gene': 'TRPM6', 'score': 9.53}, {'connected_gene': 'OSTF1', 'score': 0.37}, {'connected_gene': 'LOC105376090', 'score': 0.25}]
chr9	GH09I074802	74802427	74804791	0.6	[{'connected_gene': 'RPSAP75', 'score': 550.77}, {'connected_gene': 'RNU6-445P', 'score': 11.1}, {'connected_gene': 'TRPM6', 'score': 10.75}, {'connected_gene': 'CARNMT1', 'score': 9.69}, {'connected_gene': 'RN7SKP47', 'score': 0.77}]
chr9	GH09I074855	74855760	74859460	0.57	[{'connected_gene': 'RNU6-445P', 'score': 550.77}, {'connected_gene': 'GC09P074858', 'score': 550.77}, {'connected_gene': 'TRPM6', 'score': 27.43}, {'connected_gene': 'CARNMT1', 'score': 9.77}, {'connected_gene': 'PIR35700', 'score': 0.77}]
chr9	GH09I075020	75020601	75020800	0.43	[{'connected_gene': 'ENSG00000278040', 'score': 0.77}, {'connected_gene': 'CARNMT1', 'score': 0.44}, {'connected_gene': 'GC09P074993', 'score': 0.31}]