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
ENST00000341398	[[119508807, 119508957], [119509440, 119509516], [119510574, 119510722], [119545868, 119546020], [119547811, 119547929], [119548264, 119548567], [119549124, 119549475], [119599184, 119599263]]	[[119508807, 119508957], [119509440, 119509516], [119510574, 119510722], [119545868, 119546020], [119547811, 119547929], [119548264, 119548567], [119549124, 119549475], [119599184, 119599263]]
ENST00000264025	[[119531701, 119536007], [119545868, 119546020], [119547811, 119547929], [119548264, 119548567], [119549124, 119549475], [119599184, 119599794]]	[[119535456, 119536007], [119545868, 119546020], [119547811, 119547929], [119548264, 119548567], [119549124, 119549475], [119599184, 119599263]]
ENST00000531468	[[119494119, 119494459], [119499805, 119499987], [119508843, 119508910]]	None
ENST00000524429	[[119545091, 119545357], [119545868, 119546379]]	None
ENST00000340882	[[119545301, 119545357], [119545868, 119546020], [119547811, 119547929], [119548264, 119548567], [119549124, 119549475], [119599184, 119599263]]	[[119545301, 119545357], [119545868, 119546020], [119547811, 119547929], [119548264, 119548567], [119549124, 119549475], [119599184, 119599263]]
ENST00000532197	[[119547524, 119547929], [119548264, 119548311]]	None
ENST00000524510	[[119547804, 119547929], [119548264, 119548567], [119549124, 119549475], [119558014, 119558067]]	None
NM_203285	[[119508807, 119508957], [119509440, 119509516], [119510574, 119510722], [119545868, 119546020], [119547811, 119547929], [119548264, 119548567], [119549124, 119549475], [119599184, 119599435]]	[[119508807, 119508957], [119509440, 119509516], [119510574, 119510722], [119545868, 119546020], [119547811, 119547929], [119548264, 119548567], [119549124, 119549475], [119599184, 119599263]]
NM_002855	[[119531701, 119536007], [119545868, 119546020], [119547811, 119547929], [119548264, 119548567], [119549124, 119549475], [119599184, 119599435]]	[[119535456, 119536007], [119545868, 119546020], [119547811, 119547929], [119548264, 119548567], [119549124, 119549475], [119599184, 119599263]]
NM_203286	[[119545098, 119545357], [119545868, 119546020], [119547811, 119547929], [119548264, 119548567], [119549124, 119549475], [119599184, 119599435]]	[[119545301, 119545357], [119545868, 119546020], [119547811, 119547929], [119548264, 119548567], [119549124, 119549475], [119599184, 119599263]]

Promoter

Chrom	Start	End	Description
chr11	119599468	119599531	CAGE_peak_3_at_PVRL1_5end
chr11	119599846	119599857	CAGE_peak_4_at_PVRL1_5end
chr11	119599869	119599934	CAGE_peak_1_at_PVRL1_5end
chr11	119600137	119600198	CAGE_peak_2_at_PVRL1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I119683	119683143	119687800	1.34	[{'connected_gene': 'NECTIN1', 'score': 1.75}, {'connected_gene': 'TRIM29', 'score': 1.64}, {'connected_gene': 'LOC105369525', 'score': 0.34}, {'connected_gene': 'RNU6-1123P', 'score': 0.31}]
chr11	GH11I119721	119721171	119721440	0.74	[{'connected_gene': 'NECTIN1', 'score': 0.44}, {'connected_gene': 'GC11P119714', 'score': 0.44}]
chr11	GH11I119722	119722401	119722800	0.94	[{'connected_gene': 'NECTIN1', 'score': 0.44}, {'connected_gene': 'GC11P119714', 'score': 0.44}]
chr11	GH11I119724	119721676	119722020	0.4	[{'connected_gene': 'NECTIN1', 'score': 0.44}, {'connected_gene': 'GC11P119714', 'score': 0.44}]
chr11	GH11I119675	119675861	119678469	0.59	[{'connected_gene': 'VPS11', 'score': 12.25}, {'connected_gene': 'ENSG00000255121', 'score': 11.08}, {'connected_gene': 'CCDC153', 'score': 5.23}, {'connected_gene': 'RNU6-1123P', 'score': 0.34}, {'connected_gene': 'LOC105369525', 'score': 0.29}, {'connected_gene': 'NECTIN1', 'score': 0.23}]
chr11	GH11I119690	119690165	119702813	1.51	[{'connected_gene': 'CCDC153', 'score': 4.94}, {'connected_gene': 'NECTIN1', 'score': 2.54}, {'connected_gene': 'TRIM29', 'score': 1.94}, {'connected_gene': 'LOC105369525', 'score': 0.39}, {'connected_gene': 'RNU6-1123P', 'score': 0.26}]
chr11	GH11I119680	119680449	119681667	0.94	[{'connected_gene': 'CCDC153', 'score': 5.15}, {'connected_gene': 'RNU6-1123P', 'score': 0.34}, {'connected_gene': 'LOC105369525', 'score': 0.31}, {'connected_gene': 'NECTIN1', 'score': 0.25}]
chr11	GH11I119704	119704544	119705674	0.84	[{'connected_gene': 'ARHGEF12', 'score': 6.03}, {'connected_gene': 'LOC105369525', 'score': 0.77}, {'connected_gene': 'NECTIN1', 'score': 0.34}, {'connected_gene': 'RNU6-1123P', 'score': 0.25}]
chr11	GH11I119716	119716891	119717040	0.51	[{'connected_gene': 'RNU6-1123P', 'score': 11.48}, {'connected_gene': 'GC11P119714', 'score': 0.77}, {'connected_gene': 'LOC105369525', 'score': 0.44}, {'connected_gene': 'NECTIN1', 'score': 0.39}]
chr11	GH11I119715	119715541	119716569	0.38	[{'connected_gene': 'RNU6-1123P', 'score': 11.49}, {'connected_gene': 'GC11P119714', 'score': 0.77}, {'connected_gene': 'LOC105369525', 'score': 0.44}, {'connected_gene': 'NECTIN1', 'score': 0.39}]
chr11	GH11I119669	119669383	119670063	0.2	[{'connected_gene': 'RNU6-1123P', 'score': 0.39}, {'connected_gene': 'LOC105369525', 'score': 0.26}, {'connected_gene': 'NECTIN1', 'score': 0.22}]
chr11	GH11I119670	119670857	119674460	1.47	[{'connected_gene': 'RNU6-1123P', 'score': 0.37}, {'connected_gene': 'LOC105369525', 'score': 0.28}, {'connected_gene': 'NECTIN1', 'score': 0.22}]
chr11	GH11I119659	119659168	119660995	0.58	[{'connected_gene': 'RNU6-1123P', 'score': 0.77}, {'connected_gene': 'LOC105369525', 'score': 0.25}, {'connected_gene': 'LOC105369520', 'score': 0.23}, {'connected_gene': 'NECTIN1', 'score': 0.2}]
chr11	GH11I119705	119705986	119707879	0.54	[{'connected_gene': 'LOC105369525', 'score': 0.77}, {'connected_gene': 'NECTIN1', 'score': 0.34}, {'connected_gene': 'RNU6-1123P', 'score': 0.23}]
chr11	GH11I119709	119709223	119710384	1	[{'connected_gene': 'LOC105369525', 'score': 550.77}, {'connected_gene': 'NECTIN1', 'score': 0.37}, {'connected_gene': 'RNU6-1123P', 'score': 0.23}]
chr11	GH11I119663	119663471	119664800	0.96	[{'connected_gene': 'LOC105369525', 'score': 11.07}, {'connected_gene': 'RNU6-1123P', 'score': 0.44}, {'connected_gene': 'NECTIN1', 'score': 0.21}]
chr11	GH11I119666	119666333	119667486	1.2	[{'connected_gene': 'LOC105369525', 'score': 11.08}, {'connected_gene': 'RNU6-1123P', 'score': 0.39}, {'connected_gene': 'NECTIN1', 'score': 0.21}]
chr11	GH11I119688	119688601	119688800	0.51	[{'connected_gene': 'LOC105369525', 'score': 0.34}, {'connected_gene': 'RNU6-1123P', 'score': 0.29}, {'connected_gene': 'NECTIN1', 'score': 0.26}]
chr11	GH11I119665	119665791	119665800	0.4	[{'connected_gene': 'LOC105369525', 'score': 11.08}, {'connected_gene': 'RNU6-1123P', 'score': 0.44}, {'connected_gene': 'NECTIN1', 'score': 0.21}]
chr11	GH11I119689	119689391	119689540	0.4	[{'connected_gene': 'LOC105369525', 'score': 0.34}, {'connected_gene': 'RNU6-1123P', 'score': 0.29}, {'connected_gene': 'NECTIN1', 'score': 0.28}]
chr11	GH11I119626	119626362	119627364	0.52	[{'connected_gene': 'LOC105369520', 'score': 0.37}, {'connected_gene': 'GC11P119657', 'score': 0.31}, {'connected_gene': 'NECTIN1', 'score': 0.15}]
chr11	GH11I119725	119725679	119730962	2.37	[{'connected_gene': 'LOC102724301', 'score': 557.82}, {'connected_gene': 'NECTIN1', 'score': 550.77}, {'connected_gene': 'USP2', 'score': 1.4}, {'connected_gene': 'GC11P119714', 'score': 0.39}]
chr11	GH11I119723	119723602	119724640	0.31	[{'connected_gene': 'LOC102724301', 'score': 7.36}, {'connected_gene': 'HMBS', 'score': 4.4}, {'connected_gene': 'NECTIN1', 'score': 0.77}, {'connected_gene': 'GC11P119714', 'score': 0.39}]
chr11	GH11I119712	119712201	119714000	0.94	[{'connected_gene': 'GC11P119714', 'score': 550.77}, {'connected_gene': 'LOC105369525', 'score': 0.77}, {'connected_gene': 'NECTIN1', 'score': 0.37}]
chr11	GH11I119717	119717951	119718835	0.62	[{'connected_gene': 'GC11P119714', 'score': 0.77}, {'connected_gene': 'LOC105369525', 'score': 0.44}, {'connected_gene': 'NECTIN1', 'score': 0.39}]
chr11	GH11I119633	119633947	119636562	0.31	[{'connected_gene': 'GC11P119657', 'score': 0.34}, {'connected_gene': 'LOC105369520', 'score': 0.31}, {'connected_gene': 'NECTIN1', 'score': 0.16}]