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
ENST00000556994	[[35451162, 35451208], [35452103, 35452421], [35465882, 35465993], [35468763, 35468855], [35470141, 35470226], [35476488, 35476593], [35477832, 35477899], [35477979, 35478037], [35480714, 35480865], [35482551, 35482700], [35483007, 35483108], [35483949, 35484036], [35487897, 35487971], [35488171, 35488280], [35492115, 35492286], [35497293, 35497389], [35498266, 35498773]]	[[35465915, 35465993], [35468763, 35468855], [35470141, 35470226], [35476488, 35476593], [35477832, 35477899], [35477979, 35478037], [35480714, 35480865], [35482551, 35482700], [35483007, 35483108], [35483949, 35484036], [35487897, 35487971], [35488171, 35488280], [35492115, 35492286], [35497293, 35497389], [35498266, 35498358]]
ENST00000554803	[[35451887, 35452209], [35452335, 35452421], [35465882, 35465993], [35468763, 35468816]]	[[35465915, 35465993], [35468763, 35468816]]
ENST00000555746	[[35451906, 35452209], [35465882, 35465993], [35468763, 35468855], [35470141, 35470193]]	[[35465915, 35465993], [35468763, 35468855], [35470141, 35470193]]
ENST00000546080	[[35452103, 35452421], [35465882, 35465993], [35470141, 35470226], [35476488, 35476593], [35477832, 35477899], [35477979, 35478037], [35480714, 35480865], [35482551, 35482700], [35483007, 35483108], [35483949, 35484036], [35487897, 35487971], [35488171, 35488280], [35492115, 35492286], [35497293, 35497389], [35498266, 35498771]]	[[35465970, 35465993], [35470141, 35470226], [35476488, 35476593], [35477832, 35477899], [35477979, 35478037], [35480714, 35480865], [35482551, 35482700], [35483007, 35483108], [35483949, 35484036], [35487897, 35487971], [35488171, 35488280], [35492115, 35492286], [35497293, 35497389], [35498266, 35498358]]
ENST00000216774	[[35452103, 35452421], [35465882, 35465993], [35468763, 35468855], [35470141, 35470226], [35476488, 35476593], [35477832, 35477899], [35477979, 35478037], [35480714, 35480865], [35482551, 35482700], [35483007, 35483108], [35483949, 35484036], [35487897, 35487971], [35488171, 35488280], [35492115, 35492286], [35497293, 35497389], [35498266, 35498771]]	[[35465915, 35465993], [35468763, 35468855], [35470141, 35470226], [35476488, 35476593], [35477832, 35477899], [35477979, 35478037], [35480714, 35480865], [35482551, 35482700], [35483007, 35483108], [35483949, 35484036], [35487897, 35487971], [35488171, 35488280], [35492115, 35492286], [35497293, 35497389], [35498266, 35498358]]
ENST00000553544	[[35452178, 35452421], [35465882, 35466130]]	None
ENST00000555317	[[35452197, 35452421], [35465882, 35465993], [35468763, 35469072]]	None
ENST00000555557	[[35452230, 35452421], [35465882, 35465993], [35470141, 35470226], [35476488, 35476593], [35477832, 35477899], [35477979, 35478037], [35480714, 35480865], [35482551, 35482700], [35483007, 35483108], [35483949, 35484036], [35487897, 35487971], [35488171, 35488280], [35492115, 35492286], [35497293, 35497389], [35498266, 35498660]]	[[35470163, 35470226], [35476488, 35476593], [35477832, 35477899], [35477979, 35478037], [35480714, 35480865], [35482551, 35482700], [35483007, 35483108], [35483949, 35484036], [35487897, 35487971], [35488171, 35488280], [35492115, 35492286], [35497293, 35497389], [35498266, 35498358]]
ENST00000556380	[[35452310, 35452421], [35465882, 35465993], [35468763, 35468801], [35477857, 35477899], [35477979, 35478037], [35480714, 35480865], [35482551, 35482640]]	[[35465915, 35465993], [35468763, 35468801], [35477857, 35477899], [35477979, 35477989]]
ENST00000555535	[[35462449, 35462648], [35465882, 35465993], [35468763, 35468855], [35470141, 35470226], [35473749, 35473814]]	None
ENST00000553923	[[35483963, 35484036], [35487897, 35487971], [35488171, 35488597]]	None
ENST00000556445	[[35487834, 35487971], [35488171, 35488564]]	None
ENST00000556992	[[35496935, 35497389], [35498266, 35498341]]	None
NM_001146282	[[35452103, 35452421], [35465882, 35465993], [35470141, 35470226], [35476488, 35476593], [35477832, 35477899], [35477979, 35478037], [35480714, 35480865], [35482551, 35482700], [35483007, 35483108], [35483949, 35484036], [35487897, 35487971], [35488171, 35488280], [35492115, 35492286], [35497293, 35497389], [35498266, 35498773]]	[[35465970, 35465993], [35470141, 35470226], [35476488, 35476593], [35477832, 35477899], [35477979, 35478037], [35480714, 35480865], [35482551, 35482700], [35483007, 35483108], [35483949, 35484036], [35487897, 35487971], [35488171, 35488280], [35492115, 35492286], [35497293, 35497389], [35498266, 35498358]]
NM_003136	[[35452103, 35452421], [35465882, 35465993], [35468763, 35468855], [35470141, 35470226], [35476488, 35476593], [35477832, 35477899], [35477979, 35478037], [35480714, 35480865], [35482551, 35482700], [35483007, 35483108], [35483949, 35484036], [35487897, 35487971], [35488171, 35488280], [35492115, 35492286], [35497293, 35497389], [35498266, 35498773]]	[[35465915, 35465993], [35468763, 35468855], [35470141, 35470226], [35476488, 35476593], [35477832, 35477899], [35477979, 35478037], [35480714, 35480865], [35482551, 35482700], [35483007, 35483108], [35483949, 35484036], [35487897, 35487971], [35488171, 35488280], [35492115, 35492286], [35497293, 35497389], [35498266, 35498358]]

Promoter

Chrom	Start	End	Description
chr14	35451880	35451920	CAGE_peak_2_at_SRP54_5end
chr14	35452153	35452167	CAGE_peak_5_at_SRP54_5end
chr14	35452169	35452255	CAGE_peak_1_at_SRP54_5end
chr14	35452273	35452293	CAGE_peak_3_at_SRP54_5end
chr14	35452304	35452319	CAGE_peak_4_at_SRP54_5end
chr14	35462446	35462457	CAGE_peak_11_at_SRP54_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I034867	34867063	34868687	0.38	[{'connected_gene': 'RPS19P3', 'score': 12.19}, {'connected_gene': 'EAPP', 'score': 10.52}, {'connected_gene': 'ENSG00000258738', 'score': 7.68}, {'connected_gene': 'PPP2R3C', 'score': 7.59}, {'connected_gene': 'SRP54', 'score': 6.7}, {'connected_gene': 'IGBP1P1', 'score': 6.01}, {'connected_gene': 'PSMA6', 'score': 4.81}, {'connected_gene': 'BAZ1A', 'score': 0.44}, {'connected_gene': 'RNU7-41P', 'score': 0.34}]
chr14	GH14I034766	34766588	34766629	0.33	[{'connected_gene': 'SRP54', 'score': 6.64}, {'connected_gene': 'FAM177A1', 'score': 3.69}, {'connected_gene': 'BAZ1A', 'score': 1.39}, {'connected_gene': 'RPL12P6', 'score': 0.31}, {'connected_gene': 'GC14M034846', 'score': 0.18}]
chr14	GH14I034980	34980419	34984294	2.12	[{'connected_gene': 'SRP54', 'score': 576.33}, {'connected_gene': 'SRP54-AS1', 'score': 550.77}, {'connected_gene': 'EAPP', 'score': 36.94}, {'connected_gene': 'FAM177A1', 'score': 19.07}, {'connected_gene': 'PSMA6', 'score': 16.23}, {'connected_gene': 'PPP2R3C', 'score': 16.04}, {'connected_gene': 'RPS19P3', 'score': 10.55}, {'connected_gene': 'BAZ1A', 'score': 10.04}, {'connected_gene': 'NFKBIA', 'score': 9.9}]
chr14	GH14I034985	34985401	34985600	0.2	[{'connected_gene': 'PPP2R3C', 'score': 16.09}, {'connected_gene': 'SRP54-AS1', 'score': 0.77}, {'connected_gene': 'SRP54', 'score': 0.77}, {'connected_gene': 'GC14P035038', 'score': 0.23}]
chr14	GH14I035364	35364292	35370675	1.81	[{'connected_gene': 'NFKBIA', 'score': 51.69}, {'connected_gene': 'PSMA6', 'score': 27.0}, {'connected_gene': 'BAZ1A', 'score': 22.21}, {'connected_gene': 'EAPP', 'score': 19.54}, {'connected_gene': 'PPP2R3C', 'score': 16.13}, {'connected_gene': 'RPS19P3', 'score': 10.54}, {'connected_gene': 'FAM177A1', 'score': 10.19}, {'connected_gene': 'RALGAPA1', 'score': 4.55}, {'connected_gene': 'SRP54', 'score': 2.15}, {'connected_gene': 'ENSG00000258860', 'score': 0.77}, {'connected_gene': 'RPLP0P3', 'score': 0.34}]
chr14	GH14I035396	35396835	35407430	2.58	[{'connected_gene': 'NFKBIA', 'score': 564.42}, {'connected_gene': 'PPP2R3C', 'score': 7.91}, {'connected_gene': 'FAM177A1', 'score': 7.55}, {'connected_gene': 'RALGAPA1', 'score': 7.3}, {'connected_gene': 'PSMA6', 'score': 5.02}, {'connected_gene': 'KIAA0391', 'score': 4.62}, {'connected_gene': 'SRP54', 'score': 1.24}, {'connected_gene': 'RPLP0P3', 'score': 0.39}]
chr14	GH14I035391	35391000	35391401	1.49	[{'connected_gene': 'NFKBIA', 'score': 14.86}, {'connected_gene': 'RALGAPA1', 'score': 3.79}, {'connected_gene': 'PPP2R3C', 'score': 2.5}, {'connected_gene': 'FAM177A1', 'score': 2.11}, {'connected_gene': 'PSMA6', 'score': 1.68}, {'connected_gene': 'SRP54', 'score': 1.13}, {'connected_gene': 'RPLP0P3', 'score': 0.77}]
chr14	GH14I035298	35298399	35298638	0.52	[{'connected_gene': 'NFKBIA', 'score': 20.52}, {'connected_gene': 'BAZ1A', 'score': 17.2}, {'connected_gene': 'PSMA6', 'score': 9.64}, {'connected_gene': 'FAM177A1', 'score': 8.12}, {'connected_gene': 'PPP2R3C', 'score': 1.94}, {'connected_gene': 'SRP54', 'score': 1.62}, {'connected_gene': 'GC14P035293', 'score': 0.44}, {'connected_gene': 'GC14P035292', 'score': 0.44}, {'connected_gene': 'GC14P035312', 'score': 0.39}, {'connected_gene': 'ENSG00000258790', 'score': 0.1}]
chr14	GH14I035284	35284205	35289335	1.52	[{'connected_gene': 'NFKBIA', 'score': 38.85}, {'connected_gene': 'BAZ1A', 'score': 22.76}, {'connected_gene': 'PSMA6', 'score': 20.92}, {'connected_gene': 'FAM177A1', 'score': 12.16}, {'connected_gene': 'PPP2R3C', 'score': 9.67}, {'connected_gene': 'SRP54', 'score': 5.71}, {'connected_gene': 'GC14P035293', 'score': 0.44}, {'connected_gene': 'GC14P035292', 'score': 0.44}, {'connected_gene': 'ENSG00000258790', 'score': 0.1}]
chr14	GH14I034780	34780002	34783239	0.87	[{'connected_gene': 'FAM177A1', 'score': 9.56}, {'connected_gene': 'KIAA0391', 'score': 4.55}, {'connected_gene': 'BAZ1A', 'score': 1.86}, {'connected_gene': 'SRP54', 'score': 1.4}, {'connected_gene': 'RPL12P6', 'score': 0.26}, {'connected_gene': 'GC14M034846', 'score': 0.21}]
chr14	GH14I035355	35355028	35357829	1.59	[{'connected_gene': 'RALGAPA1', 'score': 17.42}, {'connected_gene': 'NFKBIA', 'score': 13.23}, {'connected_gene': 'ENSG00000258938', 'score': 11.83}, {'connected_gene': 'BAZ1A', 'score': 11.45}, {'connected_gene': 'FAM177A1', 'score': 10.12}, {'connected_gene': 'PSMA6', 'score': 3.06}, {'connected_gene': 'PPP2R3C', 'score': 2.56}, {'connected_gene': 'SRP54', 'score': 1.79}, {'connected_gene': 'ENSG00000258860', 'score': 0.44}, {'connected_gene': 'GC14P035335', 'score': 0.34}]
chr14	GH14I034833	34833018	34834940	1.31	[{'connected_gene': 'BAZ1A', 'score': 8.92}, {'connected_gene': 'KIAA0391', 'score': 4.56}, {'connected_gene': 'FAM177A1', 'score': 2.25}, {'connected_gene': 'PPP2R3C', 'score': 1.68}, {'connected_gene': 'SRP54', 'score': 1.22}, {'connected_gene': 'GC14M034846', 'score': 0.39}, {'connected_gene': 'RPL12P6', 'score': 0.16}]
chr14	GH14I035330	35330774	35343106	1.79	[{'connected_gene': 'GC14P035335', 'score': 550.77}, {'connected_gene': 'PSMA6', 'score': 52.13}, {'connected_gene': 'NFKBIA', 'score': 32.66}, {'connected_gene': 'PPP2R3C', 'score': 20.48}, {'connected_gene': 'BAZ1A', 'score': 15.31}, {'connected_gene': 'FAM177A1', 'score': 10.74}, {'connected_gene': 'SPTSSA', 'score': 4.9}, {'connected_gene': 'KIAA0391', 'score': 4.89}, {'connected_gene': 'RALGAPA1', 'score': 3.97}, {'connected_gene': 'SRP54', 'score': 1.22}, {'connected_gene': 'ENSG00000258860', 'score': 0.31}]
chr14	GH14I034872	34872275	34876511	2.3	[{'connected_gene': 'ENSG00000258738', 'score': 558.07}, {'connected_gene': 'BAZ1A', 'score': 550.77}, {'connected_gene': 'RPS19P3', 'score': 12.18}, {'connected_gene': 'RALGAPA1', 'score': 10.85}, {'connected_gene': 'EAPP', 'score': 10.53}, {'connected_gene': 'PPP2R3C', 'score': 7.69}, {'connected_gene': 'FAM177A1', 'score': 7.37}, {'connected_gene': 'SRP54', 'score': 6.53}, {'connected_gene': 'IGBP1P1', 'score': 5.97}, {'connected_gene': 'KIAA0391', 'score': 4.36}]