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
ENST00000528443	[[179851176, 179852112], [179853826, 179853904], [179858444, 179858504], [179869260, 179869302], [179870436, 179870523], [179873100, 179873157], [179876957, 179876999], [179877739, 179877808], [179883132, 179883189], [179886586, 179888843]]	[[179851637, 179852112], [179853826, 179853904], [179858444, 179858504], [179869260, 179869302], [179870436, 179870523], [179873100, 179873157], [179876957, 179876999], [179877739, 179877808], [179883132, 179883189], [179886586, 179887374]]
ENST00000271583	[[179851431, 179852112], [179853826, 179853904], [179858444, 179858504], [179869260, 179869302], [179870436, 179870523], [179873100, 179873157], [179876957, 179876999], [179877739, 179877808], [179882720, 179882765], [179883132, 179883189], [179886586, 179888412]]	[[179851637, 179852112], [179853826, 179853904], [179858444, 179858504], [179869260, 179869302], [179870436, 179870523], [179873100, 179873157], [179876957, 179876999], [179877739, 179877808], [179882720, 179882765], [179883132, 179883189], [179886586, 179887374]]
ENST00000606911	[[179851446, 179852112], [179853826, 179853904], [179858447, 179858504], [179869260, 179869302], [179870436, 179870523], [179873100, 179873157], [179876957, 179876999], [179877739, 179877808], [179883132, 179883189], [179886586, 179894135]]	[[179851637, 179852112], [179853826, 179853904], [179858447, 179858504], [179869260, 179869302], [179870436, 179870523], [179873100, 179873157], [179876957, 179876999], [179877739, 179877808], [179883132, 179883189], [179886586, 179887374]]
ENST00000435319	[[179851830, 179852112], [179853826, 179853904], [179858447, 179858504], [179869260, 179869302], [179870436, 179870523], [179873100, 179873157], [179876957, 179876999], [179877739, 179877808], [179883132, 179883189], [179886586, 179889212]]	[[179852000, 179852112], [179853826, 179853904], [179858447, 179858504], [179869260, 179869302], [179870436, 179870523], [179873100, 179873157], [179876957, 179876999], [179877739, 179877808], [179883132, 179883189], [179886586, 179887374]]
ENST00000531630	[[179851928, 179852112], [179853826, 179853904], [179858447, 179858504], [179870436, 179870523], [179873100, 179873157], [179876957, 179876999], [179877739, 179877808], [179883132, 179883137]]	[[179851928, 179852112], [179853826, 179853904], [179858447, 179858504], [179870436, 179870523], [179873100, 179873157], [179876957, 179876999], [179877739, 179877808], [179883132, 179883137]]
ENST00000527391	[[179852023, 179852127], [179853826, 179853904], [179858447, 179858504], [179869260, 179869302], [179870436, 179870523], [179873100, 179873157], [179876957, 179876999], [179877739, 179877808], [179883132, 179883189]]	[[179852023, 179852127], [179853826, 179853904], [179858447, 179858504], [179869260, 179869302], [179870436, 179870523], [179873100, 179873157], [179876957, 179876999], [179877739, 179877808], [179883132, 179883189]]
ENST00000529091	[[179852100, 179852201], [179852748, 179852913], [179853826, 179853904], [179858447, 179858504], [179869260, 179869302], [179870436, 179870523], [179873100, 179873157]]	[[179852100, 179852201], [179852748, 179852838]]
ENST00000527867	[[179853071, 179853163], [179853826, 179853904], [179856963, 179857094], [179858447, 179858504], [179869260, 179869302], [179870436, 179870522]]	None
ENST00000474875	[[179853096, 179853163], [179853826, 179853904], [179858447, 179858504], [179869260, 179869302], [179870436, 179870523], [179873100, 179873157], [179876957, 179876999], [179877739, 179877808], [179883132, 179883189], [179886586, 179886860]]	None
ENST00000531726	[[179853102, 179853163], [179853826, 179853904], [179858444, 179858504], [179869260, 179869302], [179870436, 179870523], [179873100, 179873157], [179873786, 179873876]]	None
ENST00000524653	[[179853119, 179853163], [179853826, 179853904], [179858447, 179858504], [179869260, 179869302], [179870436, 179870523], [179873100, 179873157], [179873786, 179873902], [179876957, 179876999], [179877739, 179877760]]	None
ENST00000447964	[[179873100, 179873157], [179876957, 179876999], [179877739, 179877808], [179886586, 179887306]]	[[179873100, 179873157], [179876957, 179876999], [179877739, 179877808], [179886586, 179887306]]
NM_015602	[[179851176, 179852112], [179853826, 179853904], [179858447, 179858504], [179869260, 179869302], [179870436, 179870523], [179873100, 179873157], [179876957, 179876999], [179877739, 179877808], [179883132, 179883189], [179886586, 179889212]]	[[179851637, 179852112], [179853826, 179853904], [179858447, 179858504], [179869260, 179869302], [179870436, 179870523], [179873100, 179873157], [179876957, 179876999], [179877739, 179877808], [179883132, 179883189], [179886586, 179887374]]
NM_001267578	[[179851176, 179852112], [179853826, 179853904], [179858444, 179858504], [179869260, 179869302], [179870436, 179870523], [179873100, 179873157], [179876957, 179876999], [179877739, 179877808], [179883132, 179883189], [179886586, 179889212]]	[[179851637, 179852112], [179853826, 179853904], [179858444, 179858504], [179869260, 179869302], [179870436, 179870523], [179873100, 179873157], [179876957, 179876999], [179877739, 179877808], [179883132, 179883189], [179886586, 179887374]]

Promoter

Chrom	Start	End	Description
chr1	179851176	179851197	CAGE_peak_9_at_TOR1AIP1_5end
chr1	179851224	179851247	CAGE_peak_6_at_TOR1AIP1_5end
chr1	179851385	179851392	CAGE_peak_5_at_TOR1AIP1_5end
chr1	179851410	179851439	CAGE_peak_2_at_TOR1AIP1_5end
chr1	179851735	179851746	CAGE_peak_8_at_TOR1AIP1_5end
chr1	179851763	179851775	CAGE_peak_10_at_TOR1AIP1_5end
chr1	179851802	179851816	CAGE_peak_4_at_TOR1AIP1_5end
chr1	179851823	179851846	CAGE_peak_3_at_TOR1AIP1_5end
chr1	179851893	179851995	CAGE_peak_1_at_TOR1AIP1_5end
chr1	179851999	179852010	CAGE_peak_7_at_TOR1AIP1_5end
chr1	179852095	179852106	CAGE_peak_12_at_TOR1AIP1_5end
chr1	179853110	179853125	CAGE_peak_18_at_TOR1AIP1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I179080	179080657	179084812	2.27	[{'connected_gene': 'TOR3A', 'score': 565.65}, {'connected_gene': 'GC01M179080', 'score': 550.77}, {'connected_gene': 'CEP350', 'score': 11.41}, {'connected_gene': 'TOR1AIP1', 'score': 11.11}, {'connected_gene': 'ABL2', 'score': 4.71}, {'connected_gene': 'AXDND1', 'score': 4.13}, {'connected_gene': 'GC01M179101', 'score': 0.37}, {'connected_gene': 'PIR61676', 'score': 0.37}]
chr1	GH01I180180	180180693	180184792	0.59	[{'connected_gene': 'QSOX1', 'score': 26.82}, {'connected_gene': 'LHX4', 'score': 11.4}, {'connected_gene': 'TOR1AIP1', 'score': 10.58}, {'connected_gene': 'TOR1AIP2', 'score': 10.58}, {'connected_gene': 'PIR48513', 'score': 0.77}, {'connected_gene': 'GC01P180178', 'score': 0.77}, {'connected_gene': 'FLJ23867', 'score': 0.37}]
chr1	GH01I180116	180116546	180118613	1.39	[{'connected_gene': 'QSOX1', 'score': 11.85}, {'connected_gene': 'ACBD6', 'score': 11.21}, {'connected_gene': 'TOR1AIP1', 'score': 10.04}, {'connected_gene': 'TOR1AIP2', 'score': 10.04}, {'connected_gene': 'ENSG00000261831', 'score': 8.04}, {'connected_gene': 'ENSG00000261817', 'score': 0.44}, {'connected_gene': 'RPS24P5', 'score': 0.13}]
chr1	GH01I180112	180112485	180113295	0.4	[{'connected_gene': 'QSOX1', 'score': 16.87}, {'connected_gene': 'TOR1AIP1', 'score': 10.04}, {'connected_gene': 'TOR1AIP2', 'score': 10.04}, {'connected_gene': 'ENSG00000261817', 'score': 0.39}, {'connected_gene': 'RPS24P5', 'score': 0.14}, {'connected_gene': 'CEP350', 'score': 0.1}]
chr1	GH01I180042	180042794	180044435	0.46	[{'connected_gene': 'QSOX1', 'score': 17.62}, {'connected_gene': 'TOR1AIP1', 'score': 10.28}, {'connected_gene': 'TOR1AIP2', 'score': 10.22}, {'connected_gene': 'RPS24P5', 'score': 0.26}, {'connected_gene': 'ENSG00000261817', 'score': 0.18}, {'connected_gene': 'CEP350', 'score': 0.17}]
chr1	GH01I180113	180113366	180113515	0.4	[{'connected_gene': 'QSOX1', 'score': 11.84}, {'connected_gene': 'TOR1AIP1', 'score': 10.04}, {'connected_gene': 'TOR1AIP2', 'score': 10.04}, {'connected_gene': 'ENSG00000261817', 'score': 0.39}, {'connected_gene': 'RPS24P5', 'score': 0.14}, {'connected_gene': 'CEP350', 'score': 0.1}]
chr1	GH01I180173	180173722	180174490	0.51	[{'connected_gene': 'QSOX1', 'score': 27.18}, {'connected_gene': 'TOR1AIP2', 'score': 10.65}, {'connected_gene': 'TOR1AIP1', 'score': 10.65}, {'connected_gene': 'GC01M180833', 'score': 0.77}, {'connected_gene': 'PIR57354', 'score': 0.44}]
chr1	GH01I180150	180150431	180159263	2.79	[{'connected_gene': 'QSOX1', 'score': 599.81}, {'connected_gene': 'LOC105371636', 'score': 550.77}, {'connected_gene': 'ACBD6', 'score': 11.3}, {'connected_gene': 'ENSG00000261831', 'score': 6.38}, {'connected_gene': 'AXDND1', 'score': 4.73}, {'connected_gene': 'ENSG00000260360', 'score': 4.24}, {'connected_gene': 'TOR1AIP1', 'score': 2.88}, {'connected_gene': 'CEP350', 'score': 2.02}, {'connected_gene': 'PIR57354', 'score': 0.39}, {'connected_gene': 'GC01M180833', 'score': 0.34}]
chr1	GH01I179880	179880479	179885164	2.35	[{'connected_gene': 'TOR1AIP1', 'score': 550.77}, {'connected_gene': 'ENSG00000272906', 'score': 550.77}, {'connected_gene': 'LHX4', 'score': 75.64}, {'connected_gene': 'TOR3A', 'score': 11.51}, {'connected_gene': 'ACBD6', 'score': 10.72}, {'connected_gene': 'CEP350', 'score': 10.52}, {'connected_gene': 'ENSG00000261831', 'score': 8.93}, {'connected_gene': 'TOR1AIP2', 'score': 4.41}, {'connected_gene': 'FAM163A', 'score': 4.03}, {'connected_gene': 'AXDND1', 'score': 3.86}, {'connected_gene': 'GC01P179900', 'score': 0.37}]
chr1	GH01I180026	180026252	180028743	0.85	[{'connected_gene': 'TOR1AIP1', 'score': 12.48}, {'connected_gene': 'TOR1AIP2', 'score': 10.53}, {'connected_gene': 'ENSG00000261831', 'score': 8.8}, {'connected_gene': 'CEP350', 'score': 1.86}, {'connected_gene': 'RPS24P5', 'score': 0.31}, {'connected_gene': 'ENSG00000261817', 'score': 0.15}]
chr1	GH01I180039	180039573	180040622	0.31	[{'connected_gene': 'TOR1AIP1', 'score': 10.3}, {'connected_gene': 'TOR1AIP2', 'score': 10.19}, {'connected_gene': 'QSOX1', 'score': 4.38}, {'connected_gene': 'RPS24P5', 'score': 0.28}, {'connected_gene': 'ENSG00000261817', 'score': 0.18}, {'connected_gene': 'CEP350', 'score': 0.17}]
chr1	GH01I179926	179926294	179927102	0.75	[{'connected_gene': 'TOR1AIP1', 'score': 10.4}, {'connected_gene': 'TOR1AIP2', 'score': 9.84}, {'connected_gene': 'ENSG00000261831', 'score': 8.14}, {'connected_gene': 'GC01P179922', 'score': 0.77}, {'connected_gene': 'LOC101928933', 'score': 0.31}]
chr1	GH01I179930	179930966	179931195	0.9	[{'connected_gene': 'TOR1AIP1', 'score': 10.7}, {'connected_gene': 'TOR1AIP2', 'score': 10.56}, {'connected_gene': 'GC01P179922', 'score': 0.44}, {'connected_gene': 'ENSG00000261831', 'score': 0.39}, {'connected_gene': 'LOC101928933', 'score': 0.34}]
chr1	GH01I179929	179929549	179930696	0.63	[{'connected_gene': 'TOR1AIP1', 'score': 11.42}, {'connected_gene': 'TOR1AIP2', 'score': 11.4}, {'connected_gene': 'GC01P179922', 'score': 0.44}, {'connected_gene': 'ENSG00000261831', 'score': 0.39}, {'connected_gene': 'LOC101928933', 'score': 0.34}]
chr1	GH01I179887	179887801	179888600	0.58	[{'connected_gene': 'TOR1AIP1', 'score': 0.44}, {'connected_gene': 'ENSG00000272906', 'score': 0.44}, {'connected_gene': 'GC01P179900', 'score': 0.39}]
chr1	GH01I179900	179900567	179901568	0.2	[{'connected_gene': 'RN7SL230P', 'score': 550.77}, {'connected_gene': 'GC01P179900', 'score': 550.77}, {'connected_gene': 'TOR1AIP2', 'score': 11.04}, {'connected_gene': 'GC01M180837', 'score': 0.44}, {'connected_gene': 'TOR1AIP1', 'score': 0.37}]
chr1	GH01I180178	180178966	180179095	0.89	[{'connected_gene': 'PIR48513', 'score': 550.77}, {'connected_gene': 'GC01P180178', 'score': 550.77}, {'connected_gene': 'GC01M180833', 'score': 550.77}, {'connected_gene': 'QSOX1', 'score': 12.29}, {'connected_gene': 'TOR1AIP1', 'score': 10.58}, {'connected_gene': 'TOR1AIP2', 'score': 10.58}, {'connected_gene': 'FLJ23867', 'score': 0.37}]
chr1	GH01I180177	180177414	180178369	0.38	[{'connected_gene': 'PIR48513', 'score': 550.77}, {'connected_gene': 'GC01P180178', 'score': 550.77}, {'connected_gene': 'GC01M180833', 'score': 550.77}, {'connected_gene': 'QSOX1', 'score': 20.03}, {'connected_gene': 'TOR1AIP1', 'score': 10.58}, {'connected_gene': 'TOR1AIP2', 'score': 10.58}, {'connected_gene': 'PIR57354', 'score': 0.39}]
chr1	GH01I179922	179921546	179921815	0.38	[{'connected_gene': 'GC01P179922', 'score': 550.77}, {'connected_gene': 'TOR1AIP1', 'score': 11.17}, {'connected_gene': 'TOR1AIP2', 'score': 10.46}, {'connected_gene': 'ENSG00000261831', 'score': 4.33}, {'connected_gene': 'GC01M180837', 'score': 0.39}]
chr1	GH01I179910	179910340	179911183	0.46	[{'connected_gene': 'GC01M180837', 'score': 550.77}, {'connected_gene': 'TOR1AIP1', 'score': 11.33}, {'connected_gene': 'TOR1AIP2', 'score': 11.27}, {'connected_gene': 'ENSG00000261831', 'score': 8.27}, {'connected_gene': 'GC01P179922', 'score': 0.39}]
chr1	GH01I179921	179921286	179921435	0.38	[{'connected_gene': 'GC01P179922', 'score': 550.77}, {'connected_gene': 'TOR1AIP1', 'score': 11.17}, {'connected_gene': 'TOR1AIP2', 'score': 10.46}, {'connected_gene': 'GC01M180837', 'score': 0.39}]