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

Promoter

Chrom	Start	End	Description
chr6	64345675	64345686	CAGE_peak_3_at_PHF3_5end
chr6	64345698	64345750	CAGE_peak_2_at_PHF3_5end
chr6	64345755	64345766	CAGE_peak_4_at_PHF3_5end
chr6	64345869	64345878	CAGE_peak_7_at_PHF3_5end
chr6	64345971	64346036	CAGE_peak_1_at_PHF3_5end
chr6	64346457	64346475	CAGE_peak_14_at_PHF3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I063536	63536989	63538723	1.2	[{'connected_gene': 'LGSN', 'score': 17.63}, {'connected_gene': 'PHF3', 'score': 12.28}, {'connected_gene': 'GC06P063532', 'score': 0.44}, {'connected_gene': 'RPL7AP34', 'score': 0.39}, {'connected_gene': 'PTP4A1', 'score': 0.37}]
chr6	GH06I063451	63451846	63453566	0.92	[{'connected_gene': 'LGSN', 'score': 27.47}, {'connected_gene': 'PHF3', 'score': 11.15}, {'connected_gene': 'GC06M063427', 'score': 0.39}, {'connected_gene': 'GC06M063429', 'score': 0.39}, {'connected_gene': 'GC06M063428', 'score': 0.39}, {'connected_gene': 'GC06M063463', 'score': 0.39}, {'connected_gene': 'GC06M063421', 'score': 0.39}]
chr6	GH06I063576	63576896	63577045	0.51	[{'connected_gene': 'PHF3', 'score': 11.07}, {'connected_gene': 'ENSG00000266680', 'score': 0.77}, {'connected_gene': 'GC06M063587', 'score': 0.39}, {'connected_gene': 'PTP4A1', 'score': 0.22}]
chr6	GH06I063663	63663058	63664400	0.89	[{'connected_gene': 'PHF3', 'score': 12.1}, {'connected_gene': 'GC06M063647', 'score': 0.39}, {'connected_gene': 'GC06P063737', 'score': 0.19}]
chr6	GH06I063676	63676797	63677902	1	[{'connected_gene': 'PHF3', 'score': 14.66}, {'connected_gene': 'GC06M063647', 'score': 0.31}, {'connected_gene': 'GC06P063737', 'score': 0.22}]
chr6	GH06I063600	63600201	63600400	0.2	[{'connected_gene': 'PHF3', 'score': 12.16}, {'connected_gene': 'ENSG00000236345', 'score': 10.91}, {'connected_gene': 'GC06M063595', 'score': 0.77}, {'connected_gene': 'GC06M063602', 'score': 0.77}]
chr6	GH06I063597	63597801	63599325	1.19	[{'connected_gene': 'PHF3', 'score': 24.37}, {'connected_gene': 'ENSG00000236345', 'score': 10.91}, {'connected_gene': 'GC06M063595', 'score': 0.77}, {'connected_gene': 'GC06M063602', 'score': 0.77}]
chr6	GH06I063665	63665601	63665800	0.2	[{'connected_gene': 'PHF3', 'score': 11.9}, {'connected_gene': 'GC06M063647', 'score': 0.39}, {'connected_gene': 'GC06P063737', 'score': 0.19}]
chr6	GH06I063685	63685390	63686000	0.63	[{'connected_gene': 'PHF3', 'score': 11.64}, {'connected_gene': 'GC06M063647', 'score': 0.29}, {'connected_gene': 'GC06P063737', 'score': 0.23}]
chr6	GH06I063646	63646480	63646539	0.5	[{'connected_gene': 'PHF3', 'score': 550.39}, {'connected_gene': 'GC06M063647', 'score': 0.77}]
chr6	GH06I063640	63640156	63640385	0.52	[{'connected_gene': 'PHF3', 'score': 0.77}, {'connected_gene': 'GC06M063647', 'score': 0.39}]
chr6	GH06I063634	63634631	63638432	2.1	[{'connected_gene': 'PHF3', 'score': 565.02}, {'connected_gene': 'GC06M063647', 'score': 0.39}]
chr6	GH06I063569	63569469	63576810	2.32	[{'connected_gene': 'ENSG00000266680', 'score': 550.77}, {'connected_gene': 'PTP4A1', 'score': 550.23}, {'connected_gene': 'PHF3', 'score': 11.34}, {'connected_gene': 'LGSN', 'score': 10.6}, {'connected_gene': 'ENSG00000236345', 'score': 10.34}, {'connected_gene': 'GC06M063587', 'score': 0.37}]
chr6	GH06I063589	63589484	63590667	0.89	[{'connected_gene': 'GC06M063587', 'score': 550.77}, {'connected_gene': 'PHF3', 'score': 11.02}, {'connected_gene': 'ENSG00000236345', 'score': 10.7}, {'connected_gene': 'GC06M063595', 'score': 0.44}]
chr6	GH06I063643	63643780	63644921	0.54	[{'connected_gene': 'GC06M063647', 'score': 0.44}, {'connected_gene': 'PHF3', 'score': 0.44}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000506783	[[64345724, 64346055], [64394029, 64395812], [64401626, 64401933], [64404470, 64404654], [64408112, 64408257], [64408338, 64408495], [64410239, 64410356], [64412397, 64412529], [64413425, 64413561], [64415918, 64416114], [64416618, 64416766], [64419046, 64419110]]	[[64394181, 64395812], [64401626, 64401933], [64404470, 64404654], [64408112, 64408257], [64408338, 64408495], [64410239, 64410356], [64412397, 64412529], [64413425, 64413561], [64415918, 64416114], [64416618, 64416766], [64419046, 64419110]]
ENST00000481385	[[64345727, 64346055], [64389900, 64390062], [64394029, 64395812], [64401626, 64401933], [64404470, 64404654], [64408112, 64408135]]	[[64389920, 64390062], [64394029, 64395812], [64401626, 64401933], [64404470, 64404654], [64408112, 64408135]]
ENST00000515594	[[64345729, 64346055], [64389900, 64390062], [64401626, 64401933], [64404470, 64404654], [64408112, 64408257], [64408338, 64408495], [64410239, 64410356], [64412397, 64412529], [64413425, 64413561], [64415918, 64416114], [64416618, 64416766], [64419046, 64419136], [64421062, 64421258], [64421481, 64422259]]	[[64401630, 64401933], [64404470, 64404654], [64408112, 64408257], [64408338, 64408495], [64410239, 64410356], [64412397, 64412529], [64413425, 64413561], [64415918, 64416114], [64416618, 64416766], [64419046, 64419136], [64421062, 64421258], [64421481, 64422259]]
ENST00000494284	[[64345740, 64346055], [64356523, 64356700], [64389900, 64390062], [64394029, 64395812], [64401626, 64401933], [64404470, 64404580]]	[[64356597, 64356700], [64389900, 64390062], [64394029, 64395812], [64401626, 64401933], [64404470, 64404580]]
ENST00000262043	[[64345740, 64346055], [64356431, 64356700], [64389900, 64390062], [64394029, 64395812], [64401626, 64401933], [64404470, 64404654], [64408112, 64408257], [64408338, 64408495], [64410239, 64410356], [64412397, 64412529], [64413425, 64413561], [64415918, 64416114], [64416618, 64416766], [64419046, 64419136], [64421062, 64421258], [64421481, 64425377]]	[[64356456, 64356700], [64389900, 64390062], [64394029, 64395812], [64401626, 64401933], [64404470, 64404654], [64408112, 64408257], [64408338, 64408495], [64410239, 64410356], [64412397, 64412529], [64413425, 64413561], [64415918, 64416114], [64416618, 64416766], [64419046, 64419136], [64421062, 64421258], [64421481, 64423604]]
ENST00000509876	[[64346015, 64346055], [64356431, 64356700], [64388728, 64388921], [64389900, 64390062], [64394029, 64395812], [64401626, 64401933], [64404470, 64404654], [64408112, 64408257], [64408338, 64408495], [64410239, 64410356], [64412397, 64412529], [64413425, 64413561], [64415918, 64416114], [64416618, 64416766], [64419046, 64419136], [64421062, 64421258], [64421481, 64424350]]	[[64356456, 64356700], [64388728, 64388733]]
ENST00000509330	[[64346385, 64346727], [64356431, 64356700], [64389900, 64390062], [64394029, 64396225]]	[[64356456, 64356700], [64389900, 64390062], [64394029, 64395834]]
ENST00000505138	[[64416689, 64416766], [64419046, 64419136], [64421062, 64421258], [64487958, 64488136], [64489030, 64489101]]	[[64416689, 64416766], [64419046, 64419136], [64421062, 64421258], [64487958, 64488104]]
ENST00000393387	[[64356430, 64356700], [64389900, 64390062], [64394029, 64395812], [64401626, 64401933], [64404470, 64404654], [64408112, 64408257], [64408338, 64408495], [64410239, 64410356], [64412397, 64412529], [64413425, 64413561], [64415918, 64416114], [64416618, 64416766], [64419046, 64419136], [64421062, 64421258], [64421481, 64424405]]	[[64356456, 64356700], [64389900, 64390062], [64394029, 64395812], [64401626, 64401933], [64404470, 64404654], [64408112, 64408257], [64408338, 64408495], [64410239, 64410356], [64412397, 64412529], [64413425, 64413561], [64415918, 64416114], [64416618, 64416766], [64419046, 64419136], [64421062, 64421258], [64421481, 64423604]]
ENST00000514822	[[64389585, 64389792], [64389900, 64390062], [64394029, 64394146]]	[[64389758, 64389792], [64389900, 64390062], [64394029, 64394146]]
ENST00000503248	[[64412182, 64412317], [64412397, 64412529], [64413425, 64413561], [64415918, 64416044]]	None
ENST00000420043	[[64487497, 64488136], [64489030, 64489229]]	None
NM_001290259	[[64345706, 64346055], [64356431, 64356700], [64388728, 64388921], [64389900, 64390062], [64394029, 64395812], [64401626, 64401933], [64404470, 64404654], [64408112, 64408257], [64408338, 64408495], [64410239, 64410356], [64412397, 64412529], [64413425, 64413561], [64415918, 64416114], [64416618, 64416766], [64419046, 64419136], [64421062, 64421258], [64421481, 64425418]]	[[64389920, 64390062], [64394029, 64395812], [64401626, 64401933], [64404470, 64404654], [64408112, 64408257], [64408338, 64408495], [64410239, 64410356], [64412397, 64412529], [64413425, 64413561], [64415918, 64416114], [64416618, 64416766], [64419046, 64419136], [64421062, 64421258], [64421481, 64423604]]
NM_001290260	[[64346385, 64346727], [64356431, 64356700], [64389900, 64390062], [64394029, 64396225]]	[[64356456, 64356700], [64389900, 64390062], [64394029, 64395834]]
NM_015153	[[64356430, 64356700], [64389900, 64390062], [64394029, 64395812], [64401626, 64401933], [64404470, 64404654], [64408112, 64408257], [64408338, 64408495], [64410239, 64410356], [64412397, 64412529], [64413425, 64413561], [64415918, 64416114], [64416618, 64416766], [64419046, 64419136], [64421062, 64421258], [64421481, 64425418]]	[[64356456, 64356700], [64389900, 64390062], [64394029, 64395812], [64401626, 64401933], [64404470, 64404654], [64408112, 64408257], [64408338, 64408495], [64410239, 64410356], [64412397, 64412529], [64413425, 64413561], [64415918, 64416114], [64416618, 64416766], [64419046, 64419136], [64421062, 64421258], [64421481, 64423604]]