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
ENST00000246635	[[39657232, 39657614], [39657970, 39657996], [39658625, 39658846], [39658938, 39659064], [39659188, 39659350], [39659538, 39659695], [39659894, 39659977], [39661307, 39661849]]	[[39657507, 39657614], [39657970, 39657996], [39658625, 39658846], [39658938, 39659064], [39659188, 39659350], [39659538, 39659695], [39659894, 39659977], [39661307, 39661802]]
ENST00000336861	[[39657232, 39657614], [39658625, 39658846], [39658938, 39659064], [39659188, 39659350], [39659538, 39659695], [39659894, 39659977], [39661307, 39661849]]	[[39657595, 39657614], [39658625, 39658846], [39658938, 39659064], [39659188, 39659350], [39659538, 39659695], [39659894, 39659977], [39661307, 39661802]]
ENST00000475217	[[39657233, 39657614], [39658053, 39658163]]	None
ENST00000468313	[[39657241, 39657996], [39658625, 39658846], [39658938, 39659064], [39659188, 39659350], [39659538, 39659695], [39659894, 39659977], [39661307, 39661487], [39661698, 39661849]]	None
ENST00000587544	[[39658476, 39658846], [39658938, 39659064], [39659188, 39659350], [39659538, 39659695], [39659894, 39659977], [39661307, 39661865]]	[[39658621, 39658846], [39658938, 39659064], [39659188, 39659350], [39659538, 39659695], [39659894, 39659977], [39661307, 39661802]]
ENST00000464634	[[39658501, 39658846], [39658938, 39659064], [39659188, 39659350], [39659538, 39659695], [39659894, 39659977], [39661307, 39661487], [39661698, 39661864]]	[[39661399, 39661487], [39661698, 39661802]]
ENST00000590425	[[39659269, 39659350], [39659538, 39659695], [39659894, 39659977], [39661307, 39661487], [39661886, 39661957]]	[[39659269, 39659350], [39659538, 39659695], [39659894, 39659977], [39661307, 39661481]]
ENST00000587435	[[39659320, 39659350], [39659538, 39659595], [39661403, 39661865]]	[[39659320, 39659350], [39659538, 39659595], [39661403, 39661802]]
ENST00000587118	[[39659910, 39659977], [39660316, 39660828]]	None
NM_153490	[[39657232, 39657614], [39657970, 39657996], [39658625, 39658846], [39658938, 39659064], [39659188, 39659350], [39659538, 39659695], [39659894, 39659977], [39661307, 39661865]]	[[39657507, 39657614], [39657970, 39657996], [39658625, 39658846], [39658938, 39659064], [39659188, 39659350], [39659538, 39659695], [39659894, 39659977], [39661307, 39661802]]
NM_002274	[[39657232, 39657614], [39658625, 39658846], [39658938, 39659064], [39659188, 39659350], [39659538, 39659695], [39659894, 39659977], [39661307, 39661865]]	[[39657595, 39657614], [39658625, 39658846], [39658938, 39659064], [39659188, 39659350], [39659538, 39659695], [39659894, 39659977], [39661307, 39661802]]

Promoter

Chrom	Start	End	Description
chr17	39658661	39658672	CAGE_peak_11_at_KRT13_5end
chr17	39658980	39659009	CAGE_peak_6_at_KRT13_5end
chr17	39659014	39659027	CAGE_peak_14_at_KRT13_5end
chr17	39659035	39659056	CAGE_peak_5_at_KRT13_5end
chr17	39659057	39659078	CAGE_peak_3_at_KRT13_5end
chr17	39659081	39659098	CAGE_peak_9_at_KRT13_5end
chr17	39659118	39659129	CAGE_peak_10_at_KRT13_5end
chr17	39659222	39659229	CAGE_peak_17_at_KRT13_5end
chr17	39659244	39659257	CAGE_peak_13_at_KRT13_5end
chr17	39659278	39659313	CAGE_peak_4_at_KRT13_5end
chr17	39659317	39659328	CAGE_peak_8_at_KRT13_5end
chr17	39659331	39659336	CAGE_peak_20_at_KRT13_5end
chr17	39659343	39659346	CAGE_peak_21_at_KRT13_5end
chr17	39661856	39661871	CAGE_peak_1_at_KRT13_5end
chr17	39661947	39661969	CAGE_peak_2_at_KRT13_5end
chr17	39661984	39661995	CAGE_peak_7_at_KRT13_5end
chr17	39662000	39662010	CAGE_peak_16_at_KRT13_5end
chr17	39662068	39662109	CAGE_peak_12_at_KRT13_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I041620	41620949	41627446	1.63	[{'connected_gene': 'KRT17', 'score': 554.56}, {'connected_gene': 'GC17M041622', 'score': 550.77}, {'connected_gene': 'GC17M041625', 'score': 550.77}, {'connected_gene': 'KRT9', 'score': 16.59}, {'connected_gene': 'KRT15', 'score': 13.38}, {'connected_gene': 'KRT14', 'score': 12.71}, {'connected_gene': 'KRT19', 'score': 12.27}, {'connected_gene': 'KRT40', 'score': 9.78}, {'connected_gene': 'ENSG00000234477', 'score': 9.37}, {'connected_gene': 'KRT37', 'score': 9.35}, {'connected_gene': 'KRT16', 'score': 7.62}, {'connected_gene': 'KRT36', 'score': 5.04}, {'connected_gene': 'JUP', 'score': 4.69}, {'connected_gene': 'CNP', 'score': 4.3}, {'connected_gene': 'RAB5C', 'score': 3.96}, {'connected_gene': 'KRT13', 'score': 1.59}, {'connected_gene': 'KRT42P', 'score': 0.37}]
chr17	GH17I041578	41578874	41589513	1.95	[{'connected_gene': 'KRT14', 'score': 555.67}, {'connected_gene': 'KRT16', 'score': 13.02}, {'connected_gene': 'JUP', 'score': 6.56}, {'connected_gene': 'KRT36', 'score': 6.06}, {'connected_gene': 'KRT9', 'score': 5.75}, {'connected_gene': 'KRT15', 'score': 4.76}, {'connected_gene': 'KRT17', 'score': 4.11}, {'connected_gene': 'KRT13', 'score': 4.01}, {'connected_gene': 'KRT19', 'score': 2.88}]
chr17	GH17I041505	41505602	41505661	0.7	[{'connected_gene': 'KRT13', 'score': 550.77}, {'connected_gene': 'KRT37', 'score': 9.36}, {'connected_gene': 'ENSG00000229732', 'score': 0.77}]
chr17	GH17I041506	41506481	41506658	1.09	[{'connected_gene': 'KRT13', 'score': 552.43}, {'connected_gene': 'KRT9', 'score': 10.18}, {'connected_gene': 'KRT36', 'score': 5.63}, {'connected_gene': 'KRTAP3-1', 'score': 5.13}, {'connected_gene': 'JUP', 'score': 3.25}, {'connected_gene': 'KRT19', 'score': 2.72}, {'connected_gene': 'MIR6510', 'score': 0.39}]
chr17	GH17I041510	41510389	41510558	0.79	[{'connected_gene': 'KRT13', 'score': 0.77}, {'connected_gene': 'MIR6510', 'score': 0.44}]
chr17	GH17I041508	41507669	41507818	0.74	[{'connected_gene': 'KRT13', 'score': 0.77}, {'connected_gene': 'MIR6510', 'score': 0.44}]
chr17	GH17I041507	41506189	41506338	0.79	[{'connected_gene': 'KRT13', 'score': 550.77}, {'connected_gene': 'MIR6510', 'score': 0.39}]
chr17	GH17I040817	40817824	40821220	1.98	[{'connected_gene': 'TMEM99', 'score': 566.49}, {'connected_gene': 'KRT34', 'score': 6.36}, {'connected_gene': 'MED24', 'score': 6.06}, {'connected_gene': 'KRT13', 'score': 4.89}, {'connected_gene': 'KRT10', 'score': 0.77}, {'connected_gene': 'GC17P040810', 'score': 0.44}]
chr17	GH17I041511	41510640	41511812	0.95	[{'connected_gene': 'MIR6510', 'score': 0.44}, {'connected_gene': 'KRT13', 'score': 0.44}]
chr17	GH17I041512	41512801	41513000	0.69	[{'connected_gene': 'EIF1', 'score': 4.51}, {'connected_gene': 'MIR6510', 'score': 0.77}, {'connected_gene': 'KRT13', 'score': 0.44}]
chr17	GH17I041674	41674903	41680514	1.74	[{'connected_gene': 'ENSG00000267758', 'score': 42.76}, {'connected_gene': 'RETREG3', 'score': 25.61}, {'connected_gene': 'NKIRAS2', 'score': 25.57}, {'connected_gene': 'DHX58', 'score': 19.89}, {'connected_gene': 'TTC25', 'score': 13.04}, {'connected_gene': 'STAT5A', 'score': 12.09}, {'connected_gene': 'ACLY', 'score': 11.66}, {'connected_gene': 'STAT3', 'score': 10.5}, {'connected_gene': 'CAVIN1', 'score': 10.21}, {'connected_gene': 'LOC108783654', 'score': 9.7}, {'connected_gene': 'EIF1', 'score': 6.32}, {'connected_gene': 'HAP1', 'score': 6.24}, {'connected_gene': 'RAB5C', 'score': 5.96}, {'connected_gene': 'KRT13', 'score': 5.44}, {'connected_gene': 'DNAJC7', 'score': 1.27}, {'connected_gene': 'GC17M041665', 'score': 0.39}]