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
ENST00000367727	[[172389827, 172390046], [172414212, 172414298], [172417580, 172417671], [172425554, 172425629], [172431317, 172431385], [172434438, 172434503], [172437588, 172437969]]	[[172390025, 172390046], [172414212, 172414298], [172417580, 172417671], [172425554, 172425629], [172431317, 172431385], [172434438, 172434503], [172437588, 172437734]]
ENST00000460397	[[172389873, 172390046], [172397933, 172397970], [172399431, 172399475], [172400219, 172400427]]	[[172390025, 172390046], [172397933, 172397970], [172399431, 172399475], [172400219, 172400231]]
ENST00000488100	[[172414278, 172414298], [172417580, 172417671], [172425554, 172425629], [172431317, 172431385], [172434438, 172434503], [172434746, 172434821]]	[[172414278, 172414298], [172417580, 172417671], [172425554, 172425629], [172431317, 172431385], [172434438, 172434503], [172434746, 172434805]]
ENST00000367726	[[172420180, 172420257], [172431317, 172431385], [172434438, 172434503], [172437588, 172437967]]	None
ENST00000367725	[[172422032, 172422329], [172425554, 172425629], [172431317, 172431385], [172434438, 172434503], [172437588, 172437971]]	[[172422161, 172422329], [172425554, 172425629], [172431317, 172431385], [172434438, 172434503], [172437588, 172437734]]
NM_139240	[[172389827, 172390046], [172414212, 172414298], [172417580, 172417671], [172425554, 172425629], [172431317, 172431385], [172434438, 172434503], [172437588, 172437969]]	[[172390025, 172390046], [172414212, 172414298], [172417580, 172417671], [172425554, 172425629], [172431317, 172431385], [172434438, 172434503], [172437588, 172437734]]
NM_001300760	[[172422032, 172422329], [172425554, 172425629], [172431317, 172431385], [172434438, 172434503], [172437588, 172437969]]	[[172422161, 172422329], [172425554, 172425629], [172431317, 172431385], [172434438, 172434503], [172437588, 172437734]]

Promoter

Chrom	Start	End	Description
chr1	172389821	172389833	CAGE_peak_5_at_C1orf105_5end
chr1	172389836	172389848	CAGE_peak_6_at_C1orf105_5end
chr1	172421915	172421926	CAGE_peak_4_at_C1orf105_5end
chr1	172421997	172422007	CAGE_peak_3_at_C1orf105_5end
chr1	172422026	172422039	CAGE_peak_2_at_C1orf105_5end
chr1	172422041	172422055	CAGE_peak_1_at_C1orf105_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I172448	172448057	172454485	1.94	[{'connected_gene': 'C1orf105', 'score': 581.16}, {'connected_gene': 'PIGC', 'score': 23.74}, {'connected_gene': 'SUCO', 'score': 21.13}, {'connected_gene': 'METTL13', 'score': 10.79}, {'connected_gene': 'LOC102724528', 'score': 0.44}]
chr1	GH01I172475	172475271	172480793	0.9	[{'connected_gene': 'C1orf105', 'score': 27.03}, {'connected_gene': 'PIGC', 'score': 25.35}, {'connected_gene': 'SUCO', 'score': 22.37}, {'connected_gene': 'METTL13', 'score': 10.79}, {'connected_gene': 'LOC102724528', 'score': 0.34}]
chr1	GH01I172005	172005401	172006436	0.56	[{'connected_gene': 'C1orf105', 'score': 11.35}, {'connected_gene': 'PIGC', 'score': 10.57}, {'connected_gene': 'DNM3', 'score': 6.05}, {'connected_gene': 'GC01M171926', 'score': 0.37}, {'connected_gene': 'DNM3-IT1', 'score': 0.11}]
chr1	GH01I172353	172353897	172362057	1.72	[{'connected_gene': 'C1orf105', 'score': 10.36}, {'connected_gene': 'PIGC', 'score': 7.4}, {'connected_gene': 'GC01P172366', 'score': 0.44}, {'connected_gene': 'PIR59615', 'score': 0.14}, {'connected_gene': 'DNM3', 'score': 0.03}]
chr1	GH01I172350	172350252	172353465	1.09	[{'connected_gene': 'C1orf105', 'score': 10.63}, {'connected_gene': 'PIGC', 'score': 6.27}, {'connected_gene': 'GC01P172366', 'score': 0.39}, {'connected_gene': 'PIR59615', 'score': 0.15}, {'connected_gene': 'DNM3', 'score': 0.03}]
chr1	GH01I172420	172420652	172420711	0.5	[{'connected_gene': 'C1orf105', 'score': 550.77}, {'connected_gene': 'PIGC', 'score': 0.34}, {'connected_gene': 'LOC102724528', 'score': 0.28}]
chr1	GH01I172068	172068528	172072940	0.49	[{'connected_gene': 'C1orf105', 'score': 10.61}, {'connected_gene': 'RNU6-157P', 'score': 10.46}, {'connected_gene': 'DNM3', 'score': 4.61}, {'connected_gene': 'GC01M171926', 'score': 0.25}, {'connected_gene': 'GC01P172124', 'score': 0.23}]
chr1	GH01I172537	172537715	172538308	0.66	[{'connected_gene': 'PIGC', 'score': 10.32}, {'connected_gene': 'C1orf105', 'score': 10.29}, {'connected_gene': 'GC01M172532', 'score': 0.77}, {'connected_gene': 'SUCO', 'score': 0.44}, {'connected_gene': 'RNU6-693P', 'score': 0.18}]
chr1	GH01I172483	172483125	172484992	0.65	[{'connected_gene': 'PIGC', 'score': 25.32}, {'connected_gene': 'C1orf105', 'score': 24.51}, {'connected_gene': 'SUCO', 'score': 8.15}, {'connected_gene': 'LOC102724528', 'score': 0.31}]
chr1	GH01I172581	172581280	172582404	0.46	[{'connected_gene': 'PIGC', 'score': 10.31}, {'connected_gene': 'C1orf105', 'score': 10.28}, {'connected_gene': 'RNU6-693P', 'score': 0.29}, {'connected_gene': 'GC01M172532', 'score': 0.25}, {'connected_gene': 'SUCO', 'score': 0.25}]
chr1	GH01I172486	172486564	172489085	0.69	[{'connected_gene': 'PIGC', 'score': 11.05}, {'connected_gene': 'C1orf105', 'score': 10.99}, {'connected_gene': 'LOC102724528', 'score': 0.29}, {'connected_gene': 'SUCO', 'score': 0.26}]
chr1	GH01I172431	172431234	172432424	0.89	[{'connected_gene': 'PIGC', 'score': 19.49}, {'connected_gene': 'C1orf105', 'score': 0.39}, {'connected_gene': 'LOC102724528', 'score': 0.34}]
chr1	GH01I172717	172717330	172720130	1.16	[{'connected_gene': 'PIGC', 'score': 25.35}, {'connected_gene': 'ENSG00000224228', 'score': 19.16}, {'connected_gene': 'METTL13', 'score': 16.74}, {'connected_gene': 'RNU6-693P', 'score': 12.17}, {'connected_gene': 'FASLG', 'score': 10.95}, {'connected_gene': 'SUCO', 'score': 9.85}, {'connected_gene': 'C1orf105', 'score': 9.82}, {'connected_gene': 'SLC25A38P1', 'score': 0.31}]
chr1	GH01I172493	172493752	172494928	0.31	[{'connected_gene': 'PIGC', 'score': 16.11}, {'connected_gene': 'SUCO', 'score': 10.77}, {'connected_gene': 'C1orf105', 'score': 10.31}, {'connected_gene': 'RPL4P3', 'score': 5.92}, {'connected_gene': 'LOC102724528', 'score': 0.28}]
chr1	GH01I172481	172481614	172482523	0.31	[{'connected_gene': 'PIGC', 'score': 24.69}, {'connected_gene': 'SUCO', 'score': 18.58}, {'connected_gene': 'C1orf105', 'score': 11.09}, {'connected_gene': 'LOC102724528', 'score': 0.31}]
chr1	GH01I172443	172443010	172444750	2.06	[{'connected_gene': 'PIGC', 'score': 580.84}, {'connected_gene': 'PRRC2C', 'score': 12.75}, {'connected_gene': 'METTL13', 'score': 10.19}, {'connected_gene': 'LOC102724528', 'score': 0.39}, {'connected_gene': 'C1orf105', 'score': 0.34}]
chr1	GH01I172379	172379672	172385022	1.12	[{'connected_gene': 'PIGC', 'score': 9.93}, {'connected_gene': 'RNU6-157P', 'score': 0.37}, {'connected_gene': 'C1orf105', 'score': 0.28}, {'connected_gene': 'DNM3', 'score': 0.03}]
chr1	GH01I172389	172389679	172403433	1.58	[{'connected_gene': 'PIGC', 'score': 28.09}, {'connected_gene': 'RNU6-157P', 'score': 12.28}, {'connected_gene': 'C1orf105', 'score': 11.78}, {'connected_gene': 'LOC102724528', 'score': 0.22}, {'connected_gene': 'DNM3', 'score': 0.03}]
chr1	GH01I172495	172495344	172496374	0.65	[{'connected_gene': 'SUCO', 'score': 15.24}, {'connected_gene': 'PIGC', 'score': 10.35}, {'connected_gene': 'C1orf105', 'score': 10.3}, {'connected_gene': 'FASLG', 'score': 6.2}, {'connected_gene': 'LOC102724528', 'score': 0.28}]
chr1	GH01I172542	172542775	172546617	0.62	[{'connected_gene': 'SUCO', 'score': 11.67}, {'connected_gene': 'PIGC', 'score': 11.0}, {'connected_gene': 'C1orf105', 'score': 10.97}, {'connected_gene': 'GC01M172532', 'score': 0.39}, {'connected_gene': 'RNU6-693P', 'score': 0.2}]
chr1	GH01I172584	172584961	172586584	0.38	[{'connected_gene': 'SUCO', 'score': 13.28}, {'connected_gene': 'PIGC', 'score': 10.3}, {'connected_gene': 'C1orf105', 'score': 10.29}, {'connected_gene': 'RNU6-693P', 'score': 0.31}, {'connected_gene': 'GC01M172532', 'score': 0.23}]
chr1	GH01I172470	172470241	172470390	1.07	[{'connected_gene': 'SUCO', 'score': 22.08}, {'connected_gene': 'PIGC', 'score': 11.34}, {'connected_gene': 'C1orf105', 'score': 11.27}, {'connected_gene': 'RNU6-157P', 'score': 10.15}, {'connected_gene': 'LOC102724528', 'score': 0.39}]
chr1	GH01I172466	172466077	172468332	0.94	[{'connected_gene': 'SUCO', 'score': 22.34}, {'connected_gene': 'PIGC', 'score': 18.83}, {'connected_gene': 'C1orf105', 'score': 11.27}, {'connected_gene': 'RNU6-157P', 'score': 10.15}, {'connected_gene': 'LOC102724528', 'score': 0.39}]
chr1	GH01I172496	172496562	172501662	1.33	[{'connected_gene': 'SUCO', 'score': 20.56}, {'connected_gene': 'PIGC', 'score': 10.34}, {'connected_gene': 'C1orf105', 'score': 10.3}, {'connected_gene': 'LOC102724528', 'score': 0.26}]
chr1	GH01I172427	172427311	172428142	0.31	[{'connected_gene': 'SUCO', 'score': 5.73}, {'connected_gene': 'PIGC', 'score': 5.04}, {'connected_gene': 'C1orf105', 'score': 0.44}, {'connected_gene': 'LOC102724528', 'score': 0.31}]
chr1	GH01I172429	172429441	172429610	0.78	[{'connected_gene': 'SUCO', 'score': 10.06}, {'connected_gene': 'RNU6-157P', 'score': 9.44}, {'connected_gene': 'C1orf105', 'score': 0.44}, {'connected_gene': 'PIGC', 'score': 0.39}, {'connected_gene': 'LOC102724528', 'score': 0.31}]
chr1	GH01I171799	171799423	171802628	0.67	[{'connected_gene': 'RPS15P3', 'score': 550.77}, {'connected_gene': 'METTL13', 'score': 12.58}, {'connected_gene': 'MYOC', 'score': 9.92}, {'connected_gene': 'C1orf105', 'score': 9.56}, {'connected_gene': 'DNM3', 'score': 6.98}, {'connected_gene': 'PIR37492', 'score': 0.37}]
chr1	GH01I172681	172681918	172683371	0.4	[{'connected_gene': 'RNU6-693P', 'score': 11.67}, {'connected_gene': 'FASLG', 'score': 11.4}, {'connected_gene': 'C1orf105', 'score': 9.51}, {'connected_gene': 'SLC25A38P1', 'score': 0.2}]
chr1	GH01I172715	172715789	172717096	0.57	[{'connected_gene': 'RNU6-693P', 'score': 12.17}, {'connected_gene': 'FASLG', 'score': 10.95}, {'connected_gene': 'SUCO', 'score': 9.85}, {'connected_gene': 'PIGC', 'score': 9.82}, {'connected_gene': 'C1orf105', 'score': 9.82}, {'connected_gene': 'SLC25A38P1', 'score': 0.29}]
chr1	GH01I172090	172090301	172090450	0.63	[{'connected_gene': 'RNU6-157P', 'score': 10.52}, {'connected_gene': 'C1orf105', 'score': 10.15}, {'connected_gene': 'PIGC', 'score': 10.15}, {'connected_gene': 'GC01P172124', 'score': 0.29}, {'connected_gene': 'GC01M171926', 'score': 0.2}, {'connected_gene': 'DNM3', 'score': 0.07}]
chr1	GH01I172376	172376601	172376800	0.4	[{'connected_gene': 'RNU6-157P', 'score': 0.39}, {'connected_gene': 'C1orf105', 'score': 0.26}, {'connected_gene': 'PIGC', 'score': 0.2}, {'connected_gene': 'DNM3', 'score': 0.03}]
chr1	GH01I172377	172377826	172379027	0.46	[{'connected_gene': 'RNU6-157P', 'score': 0.39}, {'connected_gene': 'C1orf105', 'score': 0.26}, {'connected_gene': 'PIGC', 'score': 0.2}, {'connected_gene': 'DNM3', 'score': 0.03}]
chr1	GH01I172270	172270489	172271000	0.2	[{'connected_gene': 'RNU6-157P', 'score': 10.54}, {'connected_gene': 'C1orf105', 'score': 9.8}, {'connected_gene': 'PIR59615', 'score': 0.34}, {'connected_gene': 'GC01P172366', 'score': 0.15}, {'connected_gene': 'DNM3', 'score': 0.04}]
chr1	GH01I172268	172268991	172269941	1.01	[{'connected_gene': 'RNU6-157P', 'score': 10.54}, {'connected_gene': 'C1orf105', 'score': 9.8}, {'connected_gene': 'PIR59615', 'score': 0.34}, {'connected_gene': 'GC01P172366', 'score': 0.15}, {'connected_gene': 'DNM3', 'score': 0.04}]
chr1	GH01I172455	172455139	172456331	1.01	[{'connected_gene': 'LOC102724528', 'score': 550.77}, {'connected_gene': 'C1orf105', 'score': 11.02}, {'connected_gene': 'SUCO', 'score': 10.86}, {'connected_gene': 'PIGC', 'score': 9.66}]
chr1	GH01I172461	172457151	172457283	0.31	[{'connected_gene': 'LOC102724528', 'score': 550.77}, {'connected_gene': 'C1orf105', 'score': 10.91}, {'connected_gene': 'SUCO', 'score': 0.18}]
chr1	GH01I172456	172456438	172456550	0.9	[{'connected_gene': 'LOC102724528', 'score': 550.77}, {'connected_gene': 'C1orf105', 'score': 10.91}, {'connected_gene': 'SUCO', 'score': 0.18}]
chr1	GH01I172459	172457300	172457409	0.31	[{'connected_gene': 'LOC102724528', 'score': 550.77}, {'connected_gene': 'C1orf105', 'score': 10.91}, {'connected_gene': 'SUCO', 'score': 0.19}]
chr1	GH01I172458	172457628	172457720	0.38	[{'connected_gene': 'LOC102724528', 'score': 550.77}, {'connected_gene': 'C1orf105', 'score': 10.91}, {'connected_gene': 'SUCO', 'score': 10.71}]
chr1	GH01I172457	172457419	172457593	0.31	[{'connected_gene': 'LOC102724528', 'score': 550.77}, {'connected_gene': 'C1orf105', 'score': 10.91}, {'connected_gene': 'SUCO', 'score': 0.19}]
chr1	GH01I172460	172456956	172457076	0.46	[{'connected_gene': 'LOC102724528', 'score': 550.77}, {'connected_gene': 'C1orf105', 'score': 10.91}, {'connected_gene': 'SUCO', 'score': 0.18}]
chr1	GH01I172462	172457791	172457907	0.38	[{'connected_gene': 'LOC102724528', 'score': 550.77}, {'connected_gene': 'PIGC', 'score': 19.26}, {'connected_gene': 'C1orf105', 'score': 10.91}, {'connected_gene': 'SUCO', 'score': 10.76}]
chr1	GH01I172125	172125641	172125790	0.31	[{'connected_gene': 'GC01P172124', 'score': 550.77}, {'connected_gene': 'C1orf105', 'score': 10.15}, {'connected_gene': 'MIR3120', 'score': 0.39}, {'connected_gene': 'DNM3', 'score': 0.06}]
chr1	GH01I171803	171803161	171803330	0.2	[{'connected_gene': 'ENSG00000213060', 'score': 550.77}, {'connected_gene': 'RPS15P3', 'score': 550.77}, {'connected_gene': 'METTL13', 'score': 10.98}, {'connected_gene': 'MYOC', 'score': 9.91}, {'connected_gene': 'C1orf105', 'score': 9.3}, {'connected_gene': 'DNM3', 'score': 5.26}]