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
ENST00000268206	[[82422570, 82422902], [82430998, 82431183], [82443805, 82444764], [82450053, 82450201], [82456193, 82456325], [82507057, 82507196], [82511992, 82512159], [82512418, 82512570], [82517505, 82517605], [82519790, 82519913], [82520531, 82520668], [82521374, 82521451], [82523188, 82523312], [82530647, 82530862], [82532758, 82532896], [82533610, 82533744], [82545031, 82545116], [82551428, 82551496], [82554028, 82554138], [82554954, 82555104]]	[[82422713, 82422902], [82430998, 82431183], [82443805, 82444764], [82450053, 82450201], [82456193, 82456325], [82507057, 82507196], [82511992, 82512159], [82512418, 82512570], [82517505, 82517605], [82519790, 82519913], [82520531, 82520668], [82521374, 82521451], [82523188, 82523312], [82530647, 82530862], [82532758, 82532896], [82533610, 82533744], [82545031, 82545116], [82551428, 82551496], [82554028, 82554119]]
ENST00000359445	[[82422573, 82422902], [82430998, 82431183], [82443805, 82444764], [82450053, 82450201], [82456193, 82456325], [82507057, 82507196], [82511992, 82512159], [82512418, 82512570], [82517505, 82517605], [82519790, 82519913], [82520531, 82520668], [82521374, 82521451], [82523188, 82523312], [82530647, 82530862], [82532758, 82532896], [82533610, 82533744], [82554028, 82554138], [82554954, 82555055]]	[[82422713, 82422902], [82430998, 82431183], [82443805, 82444764], [82450053, 82450201], [82456193, 82456325], [82507057, 82507196], [82511992, 82512159], [82512418, 82512570], [82517505, 82517605], [82519790, 82519913], [82520531, 82520668], [82521374, 82521451], [82523188, 82523312], [82530647, 82530862], [82532758, 82532896], [82533610, 82533744], [82554028, 82554119]]
ENST00000561340	[[82444497, 82444764], [82450053, 82450201], [82452272, 82452411]]	None
ENST00000559429	[[82449806, 82450201], [82456193, 82456298]]	None
ENST00000560095	[[82507123, 82507196], [82507923, 82508004]]	None
ENST00000561331	[[82519806, 82519913], [82520531, 82520668], [82521374, 82521451], [82523188, 82523312], [82526003, 82526115]]	None
ENST00000557939	[[82530648, 82530862], [82533610, 82533744], [82545031, 82545100]]	[[82530648, 82530862], [82533610, 82533744], [82545031, 82545100]]
ENST00000561389	[[82530794, 82530862], [82532758, 82532896], [82533610, 82533744], [82551428, 82551496], [82554028, 82554138], [82554954, 82555075]]	[[82533726, 82533744], [82551428, 82551496], [82554028, 82554119]]
ENST00000557844	[[82554028, 82554138], [82554326, 82554689], [82554954, 82555002]]	[[82554028, 82554119]]
ENST00000558974	[[82554069, 82554132], [82554326, 82554805]]	[[82554069, 82554119]]
NM_001322845	[[82422560, 82422902], [82430998, 82431183], [82443805, 82444764], [82450053, 82450201], [82456193, 82456325], [82507057, 82507196], [82511992, 82512159], [82512418, 82512570], [82517505, 82517605], [82519790, 82519913], [82520531, 82520668], [82521374, 82521451], [82523188, 82523312], [82530647, 82530862], [82532758, 82532896], [82533610, 82533744], [82545031, 82545116], [82551428, 82551496], [82554028, 82554138], [82554477, 82554869]]	[[82422713, 82422902], [82430998, 82431183], [82443805, 82444764], [82450053, 82450201], [82456193, 82456325], [82507057, 82507196], [82511992, 82512159], [82512418, 82512570], [82517505, 82517605], [82519790, 82519913], [82520531, 82520668], [82521374, 82521451], [82523188, 82523312], [82530647, 82530862], [82532758, 82532896], [82533610, 82533744], [82545031, 82545116], [82551428, 82551496], [82554028, 82554119]]
NR_136410	[[82422560, 82422902], [82430998, 82431183], [82443791, 82444764], [82450053, 82450201], [82456193, 82456325], [82507057, 82507196], [82511992, 82512159], [82512418, 82512570], [82517505, 82517605], [82519790, 82519913], [82520531, 82520668], [82521374, 82521451], [82523188, 82523312], [82530647, 82530862], [82532758, 82532896], [82533610, 82533744], [82545031, 82545116], [82551428, 82551496], [82554028, 82554138], [82554954, 82555104]]	None
NM_024580	[[82422560, 82422902], [82430998, 82431183], [82443805, 82444764], [82450053, 82450201], [82456193, 82456325], [82507057, 82507196], [82511992, 82512159], [82512418, 82512570], [82517505, 82517605], [82519790, 82519913], [82520531, 82520668], [82521374, 82521451], [82523188, 82523312], [82530647, 82530862], [82532758, 82532896], [82533610, 82533744], [82545031, 82545116], [82551428, 82551496], [82554028, 82554138], [82554954, 82555104]]	[[82422713, 82422902], [82430998, 82431183], [82443805, 82444764], [82450053, 82450201], [82456193, 82456325], [82507057, 82507196], [82511992, 82512159], [82512418, 82512570], [82517505, 82517605], [82519790, 82519913], [82520531, 82520668], [82521374, 82521451], [82523188, 82523312], [82530647, 82530862], [82532758, 82532896], [82533610, 82533744], [82545031, 82545116], [82551428, 82551496], [82554028, 82554119]]
NM_001322844	[[82422560, 82422902], [82430998, 82431183], [82443805, 82444764], [82450053, 82450201], [82456193, 82456325], [82507057, 82507196], [82511992, 82512159], [82512418, 82512570], [82517505, 82517605], [82519790, 82519913], [82520531, 82520668], [82521374, 82521451], [82523188, 82523312], [82530647, 82530862], [82532758, 82532896], [82533610, 82533744], [82551428, 82551496], [82554028, 82554138], [82554954, 82555104]]	[[82422713, 82422902], [82430998, 82431183], [82443805, 82444764], [82450053, 82450201], [82456193, 82456325], [82507057, 82507196], [82511992, 82512159], [82512418, 82512570], [82517505, 82517605], [82519790, 82519913], [82520531, 82520668], [82521374, 82521451], [82523188, 82523254]]
NM_001040610	[[82422560, 82422902], [82430998, 82431183], [82443805, 82444764], [82450053, 82450201], [82456193, 82456325], [82507057, 82507196], [82511992, 82512159], [82512418, 82512570], [82517505, 82517605], [82519790, 82519913], [82520531, 82520668], [82521374, 82521451], [82523188, 82523312], [82530647, 82530862], [82532758, 82532896], [82533610, 82533744], [82554028, 82554138], [82554954, 82555104]]	[[82422713, 82422902], [82430998, 82431183], [82443805, 82444764], [82450053, 82450201], [82456193, 82456325], [82507057, 82507196], [82511992, 82512159], [82512418, 82512570], [82517505, 82517605], [82519790, 82519913], [82520531, 82520668], [82521374, 82521451], [82523188, 82523312], [82530647, 82530862], [82532758, 82532896], [82533610, 82533744], [82554028, 82554119]]

Promoter

Chrom	Start	End	Description
chr15	82555000	82555085	CAGE_peak_1_at_EFTUD1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr15	GH15I082848	82848958	82851175	1.21	[{'connected_gene': 'FAM103A1', 'score': 26.82}, {'connected_gene': 'C15orf40', 'score': 21.82}, {'connected_gene': 'WHAMM', 'score': 11.97}, {'connected_gene': 'HOMER2', 'score': 11.14}, {'connected_gene': 'FSD2', 'score': 10.63}, {'connected_gene': 'EFL1', 'score': 9.85}, {'connected_gene': 'GOLGA6L9', 'score': 6.27}, {'connected_gene': 'GC15M082841', 'score': 0.77}, {'connected_gene': 'GC15P082870', 'score': 0.37}]
chr15	GH15I082708	82708309	82710353	1.97	[{'connected_gene': 'AP3B2', 'score': 589.63}, {'connected_gene': 'SAXO2', 'score': 23.93}, {'connected_gene': 'C15orf40', 'score': 20.26}, {'connected_gene': 'WHAMM', 'score': 14.04}, {'connected_gene': 'SNHG21', 'score': 12.08}, {'connected_gene': 'RPL9P9', 'score': 10.87}, {'connected_gene': 'CPEB1', 'score': 10.8}, {'connected_gene': 'HDGFL3', 'score': 9.83}, {'connected_gene': 'EFL1', 'score': 4.67}, {'connected_gene': 'PIR57194', 'score': 0.77}]
chr15	GH15I082146	82146015	82148081	1.29	[{'connected_gene': 'RPS17', 'score': 4.05}, {'connected_gene': 'GC15P082150', 'score': 0.77}, {'connected_gene': 'GC15P082104', 'score': 0.26}, {'connected_gene': 'EFL1', 'score': 0.13}]
chr15	GH15I082131	82131749	82134080	0.96	[{'connected_gene': 'GOLGA6L9', 'score': 4.57}, {'connected_gene': 'GC15P082150', 'score': 0.37}, {'connected_gene': 'GC15P082104', 'score': 0.31}, {'connected_gene': 'EFL1', 'score': 0.13}]
chr15	GH15I082136	82136146	82137569	0.4	[{'connected_gene': 'GOLGA6L9', 'score': 9.96}, {'connected_gene': 'GC15P082150', 'score': 0.39}, {'connected_gene': 'GC15P082104', 'score': 0.29}, {'connected_gene': 'EFL1', 'score': 0.13}]
chr15	GH15I082121	82121734	82124309	1.09	[{'connected_gene': 'CSPG4P10', 'score': 8.29}, {'connected_gene': 'EFL1', 'score': 7.67}, {'connected_gene': 'GOLGA6L9', 'score': 5.58}, {'connected_gene': 'GC15P082104', 'score': 0.37}, {'connected_gene': 'GC15P082150', 'score': 0.31}]
chr15	GH15I082138	82138335	82139142	0.2	[{'connected_gene': 'CSPG4P10', 'score': 21.35}, {'connected_gene': 'GC15P082150', 'score': 0.39}, {'connected_gene': 'GC15P082104', 'score': 0.29}, {'connected_gene': 'EFL1', 'score': 0.13}]
chr15	GH15I082179	82179755	82180883	0.38	[{'connected_gene': 'CSPG4P10', 'score': 16.44}, {'connected_gene': 'RNU1-77P', 'score': 0.44}, {'connected_gene': 'GC15M082175', 'score': 0.44}, {'connected_gene': 'GC15P082195', 'score': 0.37}, {'connected_gene': 'EFL1', 'score': 0.18}]
chr15	GH15I082125	82125619	82127135	0.2	[{'connected_gene': 'SAXO2', 'score': 9.49}, {'connected_gene': 'EFL1', 'score': 7.59}, {'connected_gene': 'GOLGA6L9', 'score': 4.98}, {'connected_gene': 'GC15P082104', 'score': 0.34}, {'connected_gene': 'GC15P082150', 'score': 0.34}]
chr15	GH15I082127	82127876	82131548	1.11	[{'connected_gene': 'SAXO2', 'score': 9.74}, {'connected_gene': 'EFL1', 'score': 8.27}, {'connected_gene': 'CSPG4P10', 'score': 7.78}, {'connected_gene': 'MEX3B', 'score': 7.48}, {'connected_gene': 'GOLGA6L9', 'score': 6.67}, {'connected_gene': 'GOLGA2P10', 'score': 6.41}, {'connected_gene': 'AP3B2', 'score': 5.81}, {'connected_gene': 'GC15P082150', 'score': 0.34}, {'connected_gene': 'GC15P082104', 'score': 0.31}]
chr15	GH15I082260	82260793	82263914	2.27	[{'connected_gene': 'SAXO2', 'score': 598.52}, {'connected_gene': 'EFL1', 'score': 550.77}, {'connected_gene': 'CSPG4P10', 'score': 19.96}, {'connected_gene': 'HDGFL3', 'score': 14.24}, {'connected_gene': 'CPEB1', 'score': 10.01}, {'connected_gene': 'AP3B2', 'score': 6.97}, {'connected_gene': 'GC15M082251', 'score': 0.44}]
chr15	GH15I082159	82159494	82161174	0.69	[{'connected_gene': 'SAXO2', 'score': 47.83}, {'connected_gene': 'CSPG4P10', 'score': 6.34}, {'connected_gene': 'AP3B2', 'score': 3.88}, {'connected_gene': 'PIR43496', 'score': 0.77}, {'connected_gene': 'RNU1-77P', 'score': 0.39}, {'connected_gene': 'GC15M082175', 'score': 0.39}, {'connected_gene': 'EFL1', 'score': 0.15}]
chr15	GH15I082177	82177341	82178846	0.92	[{'connected_gene': 'SAXO2', 'score': 47.86}, {'connected_gene': 'RNU1-77P', 'score': 0.77}, {'connected_gene': 'GC15M082175', 'score': 0.77}, {'connected_gene': 'GC15P082195', 'score': 0.37}, {'connected_gene': 'EFL1', 'score': 0.18}]
chr15	GH15I082093	82093456	82094665	1.26	[{'connected_gene': 'WHAMM', 'score': 12.37}, {'connected_gene': 'EFL1', 'score': 5.28}, {'connected_gene': 'LOC105370924', 'score': 0.77}, {'connected_gene': 'LINC01583', 'score': 0.44}]
chr15	GH15I082803	82803710	82813513	2.77	[{'connected_gene': 'WHAMM', 'score': 626.7}, {'connected_gene': 'FSD2', 'score': 550.77}, {'connected_gene': 'AP3B2', 'score': 26.17}, {'connected_gene': 'FAM103A1', 'score': 14.52}, {'connected_gene': 'SCARNA15', 'score': 11.34}, {'connected_gene': 'EFL1', 'score': 11.09}, {'connected_gene': 'GOLGA6L9', 'score': 9.76}, {'connected_gene': 'C15orf40', 'score': 4.53}, {'connected_gene': 'GC15M082841', 'score': 0.28}]
chr15	GH15I082183	82183401	82184163	0.83	[{'connected_gene': 'RNU1-77P', 'score': 0.44}, {'connected_gene': 'GC15M082175', 'score': 0.44}, {'connected_gene': 'GC15P082195', 'score': 0.39}, {'connected_gene': 'EFL1', 'score': 0.18}]
chr15	GH15I082198	82198100	82198269	0.63	[{'connected_gene': 'RNU1-77P', 'score': 11.74}, {'connected_gene': 'GC15P082195', 'score': 0.77}, {'connected_gene': 'GC15M082251', 'score': 0.22}, {'connected_gene': 'EFL1', 'score': 0.21}]
chr15	GH15I082174	82174149	82174931	0.38	[{'connected_gene': 'RNU1-77P', 'score': 550.77}, {'connected_gene': 'GC15M082175', 'score': 550.77}, {'connected_gene': 'SAXO2', 'score': 47.85}, {'connected_gene': 'GC15P082195', 'score': 0.34}, {'connected_gene': 'EFL1', 'score': 0.17}]
chr15	GH15I082137	82137880	82138029	0.4	[{'connected_gene': 'GC15P082150', 'score': 0.39}, {'connected_gene': 'GC15P082104', 'score': 0.29}, {'connected_gene': 'EFL1', 'score': 0.13}]
chr15	GH15I082139	82139323	82141211	1.08	[{'connected_gene': 'GC15P082150', 'score': 0.39}, {'connected_gene': 'GC15P082104', 'score': 0.28}, {'connected_gene': 'EFL1', 'score': 0.13}]
chr15	GH15I082231	82231880	82232029	0.79	[{'connected_gene': 'GC15M082251', 'score': 0.34}, {'connected_gene': 'EFL1', 'score': 0.29}, {'connected_gene': 'GC15P082195', 'score': 0.28}]