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
ENST00000263708	[[120517206, 120517960], [120567412, 120567567], [120620111, 120620219], [120634898, 120634941], [120635039, 120635118], [120639361, 120639406], [120639672, 120639725], [120640078, 120640199], [120643370, 120643458], [120658293, 120658382], [120672754, 120672818], [120677644, 120677817], [120684173, 120684242], [120689999, 120690125], [120692375, 120692534], [120702656, 120702816], [120703916, 120704000], [120704093, 120704150], [120709548, 120709705], [120712732, 120712899], [120714419, 120714510], [120714591, 120714653], [120718382, 120718529], [120720191, 120720320], [120723072, 120723221], [120725412, 120725548], [120734559, 120741394]]	[[120567429, 120567567], [120620111, 120620219], [120634898, 120634941], [120635039, 120635118], [120639361, 120639406], [120639672, 120639725], [120640078, 120640199], [120643370, 120643458], [120658293, 120658382], [120672754, 120672818], [120677644, 120677817], [120684173, 120684242], [120689999, 120690125], [120692375, 120692534], [120702656, 120702816], [120703916, 120704000], [120704093, 120704150], [120709548, 120709705], [120712732, 120712899], [120714419, 120714510], [120714591, 120714653], [120718382, 120718529], [120720191, 120720320], [120723072, 120723221], [120725412, 120725548], [120734559, 120734646]]
ENST00000420482	[[120517752, 120517960], [120548730, 120548848], [120567412, 120567567], [120620111, 120620198]]	[[120567429, 120567567], [120620111, 120620198]]
ENST00000460289	[[120517795, 120517960], [120567412, 120567567], [120620111, 120620219], [120634898, 120634941], [120635039, 120635118], [120637666, 120637693]]	None
ENST00000488279	[[120517799, 120517960], [120567412, 120567567], [120620111, 120620219], [120634898, 120634941], [120635018, 120635118], [120639361, 120639406], [120639672, 120639722]]	[[120567429, 120567567], [120620111, 120620219], [120634898, 120634941], [120635018, 120635118], [120639361, 120639406], [120639672, 120639722]]
ENST00000485247	[[120517850, 120517960], [120567412, 120567567], [120620111, 120620219], [120634898, 120634941], [120635039, 120635118], [120639707, 120639725], [120640078, 120640155]]	None
ENST00000430976	[[120640078, 120640199], [120643370, 120643458], [120658293, 120658382], [120672754, 120674266], [120677644, 120677817], [120684173, 120684242], [120689999, 120690125], [120692375, 120692534], [120702656, 120702816], [120703916, 120704000], [120704093, 120704150], [120709548, 120709705], [120712732, 120712899], [120714419, 120714510], [120714591, 120714653], [120718382, 120718529], [120720191, 120720320], [120723072, 120723221], [120725412, 120725548], [120734559, 120735037]]	[[120640078, 120640199], [120643370, 120643458], [120658293, 120658382], [120672754, 120672863]]
ENST00000544261	[[120687351, 120687407], [120689999, 120690125], [120692375, 120692534], [120702656, 120702816], [120703916, 120704000], [120704093, 120704150], [120709548, 120709705], [120712732, 120712899], [120714419, 120714510], [120714591, 120714653], [120718382, 120718529], [120720191, 120720320], [120723072, 120723221], [120725412, 120725548], [120734559, 120734843]]	[[120690030, 120690125], [120692375, 120692534], [120702656, 120702816], [120703916, 120704000], [120704093, 120704150], [120709548, 120709705], [120712732, 120712899], [120714419, 120714510], [120714591, 120714653], [120718382, 120718529], [120720191, 120720320], [120723072, 120723221], [120725412, 120725548], [120734559, 120734646]]
ENST00000460162	[[120517529, 120517960], [120529052, 120529196], [120567412, 120567460]]	None
ENST00000433888	[[120634898, 120634941], [120635039, 120635118], [120639361, 120639406], [120639672, 120639725], [120640078, 120640199], [120658293, 120658382], [120672754, 120672818], [120677644, 120677817], [120689999, 120690125], [120692375, 120692536]]	[[120634898, 120634941], [120635039, 120635118], [120639361, 120639406], [120639672, 120639725], [120640078, 120640199], [120658293, 120658318]]
ENST00000488896	[[120689855, 120690125], [120692375, 120692680]]	None
ENST00000431283	[[120690051, 120690125], [120692375, 120692534], [120702656, 120702816], [120703916, 120704000], [120704093, 120704246]]	[[120690051, 120690125], [120692375, 120692534], [120702656, 120702816], [120703916, 120704000], [120704093, 120704210]]
ENST00000469511	[[120718367, 120718529], [120720191, 120720320], [120723072, 120723221], [120725412, 120725448]]	None
ENST00000441089	[[120718399, 120718529], [120720191, 120720320], [120723072, 120723221], [120725412, 120725548], [120734532, 120734659]]	[[120718399, 120718529], [120720191, 120720320], [120723072, 120723221], [120725412, 120725548], [120734532, 120734646]]
NM_002830	[[120517206, 120517960], [120567412, 120567567], [120620111, 120620219], [120634898, 120634941], [120635039, 120635118], [120639361, 120639406], [120639672, 120639725], [120640078, 120640199], [120643370, 120643458], [120658293, 120658382], [120672754, 120672818], [120677644, 120677817], [120684173, 120684242], [120689999, 120690125], [120692375, 120692534], [120702656, 120702816], [120703916, 120704000], [120704093, 120704150], [120709548, 120709705], [120712732, 120712899], [120714419, 120714510], [120714591, 120714653], [120718382, 120718529], [120720191, 120720320], [120723072, 120723221], [120725412, 120725548], [120734559, 120742475]]	[[120567429, 120567567], [120620111, 120620219], [120634898, 120634941], [120635039, 120635118], [120639361, 120639406], [120639672, 120639725], [120640078, 120640199], [120643370, 120643458], [120658293, 120658382], [120672754, 120672818], [120677644, 120677817], [120684173, 120684242], [120689999, 120690125], [120692375, 120692534], [120702656, 120702816], [120703916, 120704000], [120704093, 120704150], [120709548, 120709705], [120712732, 120712899], [120714419, 120714510], [120714591, 120714653], [120718382, 120718529], [120720191, 120720320], [120723072, 120723221], [120725412, 120725548], [120734559, 120734646]]

Promoter

Chrom	Start	End	Description
chr2	120517174	120517185	CAGE_peak_8_at_PTPN4_5end
chr2	120517317	120517335	CAGE_peak_7_at_PTPN4_5end
chr2	120517336	120517365	CAGE_peak_4_at_PTPN4_5end
chr2	120517452	120517509	CAGE_peak_1_at_PTPN4_5end
chr2	120517517	120517541	CAGE_peak_2_at_PTPN4_5end
chr2	120517717	120517794	CAGE_peak_3_at_PTPN4_5end
chr2	120687326	120687331	CAGE_peak_10_at_PTPN4_5end
chr2	120687335	120687357	CAGE_peak_5_at_PTPN4_5end
chr2	120687358	120687379	CAGE_peak_6_at_PTPN4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I119808	119808601	119810665	0.99	[{'connected_gene': 'RALB', 'score': 4.79}, {'connected_gene': 'LOC101927764', 'score': 0.25}, {'connected_gene': 'PTPN4', 'score': 0.23}, {'connected_gene': 'GC02P119982', 'score': 0.09}]
chr2	GH02I119644	119644991	119645036	0.22	[{'connected_gene': 'PTPN4', 'score': 1.47}, {'connected_gene': 'TMEM177', 'score': 0.29}, {'connected_gene': 'CFAP221', 'score': 0.15}]
chr2	GH02I119820	119820200	119820601	0.76	[{'connected_gene': 'PTPN4', 'score': 12.03}, {'connected_gene': 'EPB41L5', 'score': 11.28}, {'connected_gene': 'TMEM177', 'score': 9.08}, {'connected_gene': 'LOC101927764', 'score': 0.22}, {'connected_gene': 'GC02P119982', 'score': 0.1}]
chr2	GH02I119791	119791572	119796130	0.56	[{'connected_gene': 'PTPN4', 'score': 11.63}, {'connected_gene': 'EPB41L5', 'score': 9.66}, {'connected_gene': 'LOC101927764', 'score': 0.29}, {'connected_gene': 'GC02P119982', 'score': 0.09}]
chr2	GH02I119828	119828235	119828450	0.34	[{'connected_gene': 'PTPN4', 'score': 14.6}, {'connected_gene': 'EPB41L5', 'score': 11.28}, {'connected_gene': 'LOC101927764', 'score': 0.2}, {'connected_gene': 'GC02P119982', 'score': 0.1}]
chr2	GH02I119699	119699160	119702382	0.49	[{'connected_gene': 'PTPN4', 'score': 5.47}, {'connected_gene': 'RPL17P15', 'score': 0.77}, {'connected_gene': 'PIR60099', 'score': 0.31}]
chr2	GH02I119704	119704865	119705014	0.54	[{'connected_gene': 'PTPN4', 'score': 5.36}, {'connected_gene': 'RPL17P15', 'score': 0.44}, {'connected_gene': 'PIR60099', 'score': 0.34}]
chr2	GH02I119702	119702945	119703134	0.85	[{'connected_gene': 'PTPN4', 'score': 6.02}, {'connected_gene': 'RPL17P15', 'score': 0.77}, {'connected_gene': 'PIR60099', 'score': 0.31}]
chr2	GH02I119927	119927106	119930913	0.2	[{'connected_gene': 'EPB41L5', 'score': 10.03}, {'connected_gene': 'TMEM177', 'score': 4.81}, {'connected_gene': 'GC02P119982', 'score': 0.23}, {'connected_gene': 'LOC101927764', 'score': 0.1}, {'connected_gene': 'PTPN4', 'score': 0.1}]
chr2	GH02I119888	119888328	119889214	0.38	[{'connected_gene': 'EPB41L5', 'score': 16.47}, {'connected_gene': 'GC02P119982', 'score': 0.16}, {'connected_gene': 'LOC101927764', 'score': 0.13}, {'connected_gene': 'PTPN4', 'score': 0.13}]
chr2	GH02I119753	119753485	119753594	0.64	[{'connected_gene': 'EPB41L5', 'score': 8.67}, {'connected_gene': 'LOC101927764', 'score': 0.44}, {'connected_gene': 'PTPN4', 'score': 0.44}, {'connected_gene': 'PIR60099', 'score': 0.34}]
chr2	GH02I119758	119758607	119763302	2.11	[{'connected_gene': 'LOC101927764', 'score': 550.77}, {'connected_gene': 'PTPN4', 'score': 550.77}, {'connected_gene': 'EPB41L5', 'score': 8.86}, {'connected_gene': 'GC02P119982', 'score': 0.07}]
chr2	GH02I119754	119753600	119753800	0.63	[{'connected_gene': 'LOC101927764', 'score': 0.44}, {'connected_gene': 'PTPN4', 'score': 0.44}, {'connected_gene': 'PIR60099', 'score': 0.31}]
chr2	GH02I119756	119756441	119757674	1	[{'connected_gene': 'LOC101927764', 'score': 0.77}, {'connected_gene': 'PTPN4', 'score': 0.77}, {'connected_gene': 'PIR60099', 'score': 0.31}]
chr2	GH02I119765	119765001	119765200	0.59	[{'connected_gene': 'LOC101927764', 'score': 0.77}, {'connected_gene': 'PTPN4', 'score': 0.44}, {'connected_gene': 'GC02P119982', 'score': 0.08}]
chr2	GH02I119763	119763801	119764200	0.46	[{'connected_gene': 'LOC101927764', 'score': 0.77}, {'connected_gene': 'PTPN4', 'score': 0.77}, {'connected_gene': 'GC02P119982', 'score': 0.08}]
chr2	GH02I119694	119694329	119696371	0.95	[{'connected_gene': 'PIR62578', 'score': 550.77}, {'connected_gene': 'PTPN4', 'score': 10.74}, {'connected_gene': 'TMEM177', 'score': 0.37}]
chr2	GH02I119931	119931401	119931600	0.2	[{'connected_gene': 'GC02P119982', 'score': 0.23}, {'connected_gene': 'LOC101927764', 'score': 0.09}, {'connected_gene': 'PTPN4', 'score': 0.09}]