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
ENST00000378119	[[24705088, 24706490], [24709004, 24709139], [24714545, 24714668], [24716375, 24716552], [24718767, 24721064]]	[[24706364, 24706490], [24709004, 24709139], [24714545, 24714668], [24716375, 24716552], [24718767, 24718896]]
ENST00000540769	[[24706151, 24706490], [24709004, 24709139], [24714545, 24714668], [24716375, 24716552], [24720445, 24720620]]	[[24706364, 24706490], [24709004, 24709139], [24714545, 24714668], [24716375, 24716507]]
ENST00000378102	[[24706323, 24706490], [24709004, 24709139], [24714545, 24714668], [24716375, 24716552], [24720087, 24720226]]	[[24706364, 24706490], [24709004, 24709139], [24714545, 24714668], [24716375, 24716552], [24720087, 24720129]]
NM_030939	[[24705088, 24706490], [24709004, 24709139], [24714545, 24714668], [24716375, 24716552], [24718767, 24719403]]	[[24706364, 24706490], [24709004, 24709139], [24714545, 24714668], [24716375, 24716552], [24718767, 24718896]]

Promoter

Chrom	Start	End	Description
chr6	24719375	24719391	CAGE_peak_2_at_C6orf62_5end
chr6	24720231	24720247	CAGE_peak_5_at_C6orf62_5end
chr6	24720395	24720412	CAGE_peak_7_at_C6orf62_5end
chr6	24721054	24721074	CAGE_peak_1_at_C6orf62_5end
chr6	24721080	24721108	CAGE_peak_3_at_C6orf62_5end
chr6	24721111	24721133	CAGE_peak_4_at_C6orf62_5end
chr6	24721144	24721151	CAGE_peak_8_at_C6orf62_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I024708	24708484	24710105	0.59	[{'connected_gene': 'KIAA0319', 'score': 9.75}, {'connected_gene': 'ACOT13', 'score': 4.87}, {'connected_gene': 'ENSG00000272402', 'score': 0.77}, {'connected_gene': 'C6orf62', 'score': 0.39}]
chr6	GH06I024645	24645257	24647120	1.95	[{'connected_gene': 'KIAA0319', 'score': 566.59}, {'connected_gene': 'ACOT13', 'score': 17.89}, {'connected_gene': 'TDP2', 'score': 11.91}, {'connected_gene': 'C6orf62', 'score': 6.35}, {'connected_gene': 'KRT8P43', 'score': 5.12}]
chr6	GH06I025034	25034093	25044254	2.09	[{'connected_gene': 'RIPOR2', 'score': 554.84}, {'connected_gene': 'CMAHP', 'score': 8.64}, {'connected_gene': 'ENSG00000272053', 'score': 8.29}, {'connected_gene': 'ENSG00000272810', 'score': 4.05}, {'connected_gene': 'C6orf62', 'score': 4.01}, {'connected_gene': 'TDP2', 'score': 1.78}, {'connected_gene': 'LOC102724765', 'score': 0.77}, {'connected_gene': 'ENSG00000229313', 'score': 0.77}]
chr6	GH06I024917	24917790	24923089	1.16	[{'connected_gene': 'RIPOR2', 'score': 11.18}, {'connected_gene': 'ENSG00000229313', 'score': 11.18}, {'connected_gene': 'C6orf62', 'score': 3.34}, {'connected_gene': 'TDP2', 'score': 2.37}, {'connected_gene': 'LOC105374981', 'score': 0.39}, {'connected_gene': 'ENSG00000282804', 'score': 0.14}]
chr6	GH06I025005	25005802	25010446	1.49	[{'connected_gene': 'RIPOR2', 'score': 6.74}, {'connected_gene': 'C6orf62', 'score': 5.55}, {'connected_gene': 'GPLD1', 'score': 4.63}, {'connected_gene': 'TDP2', 'score': 3.04}, {'connected_gene': 'ASS1P1', 'score': 0.37}, {'connected_gene': 'PPIAP29', 'score': 0.29}]
chr6	GH06I024844	24844648	24848109	0.52	[{'connected_gene': 'RIPOR2', 'score': 11.09}, {'connected_gene': 'C6orf62', 'score': 10.99}, {'connected_gene': 'ENSG00000282804', 'score': 0.28}, {'connected_gene': 'LOC105374981', 'score': 0.17}]
chr6	GH06I024818	24818402	24819746	0.2	[{'connected_gene': 'RIPOR2', 'score': 20.0}, {'connected_gene': 'C6orf62', 'score': 10.78}, {'connected_gene': 'ENSG00000282804', 'score': 0.44}, {'connected_gene': 'LOC105374981', 'score': 0.14}]
chr6	GH06I024837	24837371	24844498	0.65	[{'connected_gene': 'RIPOR2', 'score': 11.59}, {'connected_gene': 'C6orf62', 'score': 4.84}, {'connected_gene': 'ENSG00000282804', 'score': 0.29}, {'connected_gene': 'LOC105374981', 'score': 0.16}]
chr6	GH06I024829	24829368	24830014	0.2	[{'connected_gene': 'RIPOR2', 'score': 8.71}, {'connected_gene': 'C6orf62', 'score': 7.17}, {'connected_gene': 'ENSG00000282804', 'score': 0.37}, {'connected_gene': 'LOC105374981', 'score': 0.15}]
chr6	GH06I024925	24925753	24942162	2.58	[{'connected_gene': 'RIPOR2', 'score': 557.12}, {'connected_gene': 'LOC105374981', 'score': 550.77}, {'connected_gene': 'NUP50P2', 'score': 13.04}, {'connected_gene': 'ENSG00000272053', 'score': 5.21}, {'connected_gene': 'TDP2', 'score': 4.22}, {'connected_gene': 'ALDH5A1', 'score': 2.64}, {'connected_gene': 'C6orf62', 'score': 1.36}, {'connected_gene': 'MTCO2P33', 'score': 0.39}]
chr6	GH06I025135	25135154	25140000	1.8	[{'connected_gene': 'CMAHP', 'score': 18.69}, {'connected_gene': 'HIST1H3A', 'score': 6.24}, {'connected_gene': 'C6orf62', 'score': 1.9}, {'connected_gene': 'NUP50P2', 'score': 0.77}, {'connected_gene': 'ENSG00000230372', 'score': 0.19}]
chr6	GH06I025049	25049483	25057631	1.44	[{'connected_gene': 'CMAHP', 'score': 13.47}, {'connected_gene': 'C6orf62', 'score': 2.05}, {'connected_gene': 'ENSG00000223623', 'score': 0.77}, {'connected_gene': 'RIPOR2', 'score': 0.39}, {'connected_gene': 'ENSG00000229313', 'score': 0.39}]
chr6	GH06I025087	25087752	25089942	0.72	[{'connected_gene': 'CMAHP', 'score': 7.96}, {'connected_gene': 'CARMIL1', 'score': 4.51}, {'connected_gene': 'C6orf62', 'score': 3.4}, {'connected_gene': 'TDP2', 'score': 1.5}, {'connected_gene': 'ENSG00000230372', 'score': 0.31}, {'connected_gene': 'NUP50P2', 'score': 0.23}]
chr6	GH06I025164	25164801	25168264	1.32	[{'connected_gene': 'CMAHP', 'score': 561.1}, {'connected_gene': 'GC06M025165', 'score': 550.77}, {'connected_gene': 'LOC100533655', 'score': 11.84}, {'connected_gene': 'C6orf62', 'score': 2.47}, {'connected_gene': 'LOC100132239', 'score': 0.39}]
chr6	GH06I024763	24763210	24764518	0.63	[{'connected_gene': 'C6orf62', 'score': 12.07}, {'connected_gene': 'KIAA0319', 'score': 10.65}, {'connected_gene': 'ENSG00000272402', 'score': 5.25}, {'connected_gene': 'GMNN', 'score': 4.93}, {'connected_gene': 'LOC100289381', 'score': 0.39}]
chr6	GH06I024979	24979957	24983528	0.99	[{'connected_gene': 'C6orf62', 'score': 4.72}, {'connected_gene': 'RIPOR2', 'score': 4.39}, {'connected_gene': 'PPIAP29', 'score': 0.44}, {'connected_gene': 'ASS1P1', 'score': 0.26}]
chr6	GH06I024905	24905342	24906583	0.49	[{'connected_gene': 'C6orf62', 'score': 6.16}, {'connected_gene': 'RIPOR2', 'score': 5.67}, {'connected_gene': 'LOC105374981', 'score': 0.31}, {'connected_gene': 'ENSG00000282804', 'score': 0.15}]
chr6	GH06I024672	24672386	24673305	0.69	[{'connected_gene': 'C6orf62', 'score': 19.94}, {'connected_gene': 'ACOT13', 'score': 10.81}, {'connected_gene': 'ENSG00000272345', 'score': 0.31}]
chr6	GH06I024710	24710557	24712005	0.49	[{'connected_gene': 'C6orf62', 'score': 18.38}, {'connected_gene': 'TDP2', 'score': 13.35}, {'connected_gene': 'KIAA0319', 'score': 8.04}, {'connected_gene': 'ACOT13', 'score': 4.91}, {'connected_gene': 'ENSG00000272402', 'score': 0.77}]
chr6	GH06I024716	24716996	24722842	2.36	[{'connected_gene': 'C6orf62', 'score': 573.96}, {'connected_gene': 'TDP2', 'score': 21.54}, {'connected_gene': 'ENSG00000272402', 'score': 20.49}, {'connected_gene': 'ACOT13', 'score': 15.51}, {'connected_gene': 'KIAA0319', 'score': 5.22}]
chr6	GH06I024957	24957297	24957519	0.58	[{'connected_gene': 'C6orf62', 'score': 5.68}, {'connected_gene': 'TDP2', 'score': 3.48}, {'connected_gene': 'MTCO2P33', 'score': 0.44}, {'connected_gene': 'PPIAP29', 'score': 0.37}, {'connected_gene': 'RIPOR2', 'score': 0.18}]
chr6	GH06I024778	24778812	24780145	0.83	[{'connected_gene': 'C6orf62', 'score': 12.09}, {'connected_gene': 'GMNN', 'score': 6.14}, {'connected_gene': 'C6orf229', 'score': 0.37}]
chr6	GH06I024766	24766833	24766962	0.62	[{'connected_gene': 'C6orf62', 'score': 12.48}, {'connected_gene': 'GMNN', 'score': 0.44}, {'connected_gene': 'LOC100289381', 'score': 0.37}]
chr6	GH06I024770	24770686	24772329	0.88	[{'connected_gene': 'C6orf62', 'score': 24.34}, {'connected_gene': 'GMNN', 'score': 6.06}, {'connected_gene': 'ENSG00000272402', 'score': 5.28}, {'connected_gene': 'LOC100289381', 'score': 0.37}]
chr6	GH06I024802	24802691	24803122	0.65	[{'connected_gene': 'C6orf62', 'score': 11.27}, {'connected_gene': 'C6orf229', 'score': 0.77}, {'connected_gene': 'ENSG00000282804', 'score': 0.44}]
chr6	GH06I024715	24715968	24716687	0.46	[{'connected_gene': 'C6orf62', 'score': 0.77}, {'connected_gene': 'ENSG00000272402', 'score': 0.44}]
chr6	GH06I024657	24657973	24669533	2.79	[{'connected_gene': 'ACOT13', 'score': 561.15}, {'connected_gene': 'C6orf62', 'score': 23.36}, {'connected_gene': 'TDP2', 'score': 19.94}, {'connected_gene': 'KIAA0319', 'score': 12.88}, {'connected_gene': 'NUP50P2', 'score': 12.27}, {'connected_gene': 'ENSG00000272402', 'score': 12.24}, {'connected_gene': 'ENSG00000282804', 'score': 5.96}]
chr6	GH06I024689	24689729	24695995	0.8	[{'connected_gene': 'TDP2', 'score': 26.31}, {'connected_gene': 'KIAA0319', 'score': 17.25}, {'connected_gene': 'C6orf62', 'score': 12.48}, {'connected_gene': 'ACOT13', 'score': 12.11}, {'connected_gene': 'GPLD1', 'score': 10.68}, {'connected_gene': 'ALDH5A1', 'score': 10.68}, {'connected_gene': 'ENSG00000272345', 'score': 0.44}]
chr6	GH06I024946	24946831	24955815	1.48	[{'connected_gene': 'TDP2', 'score': 10.99}, {'connected_gene': 'PPIAP29', 'score': 6.02}, {'connected_gene': 'C6orf62', 'score': 2.17}, {'connected_gene': 'KIAA0319', 'score': 1.43}, {'connected_gene': 'ALDH5A1', 'score': 1.27}, {'connected_gene': 'MTCO2P33', 'score': 0.77}, {'connected_gene': 'LOC105374981', 'score': 0.37}, {'connected_gene': 'RIPOR2', 'score': 0.16}]
chr6	GH06I024744	24744950	24745542	0.52	[{'connected_gene': 'GMNN', 'score': 12.12}, {'connected_gene': 'C6orf62', 'score': 12.02}, {'connected_gene': 'TDP2', 'score': 5.64}, {'connected_gene': 'LOC105374978', 'score': 0.77}, {'connected_gene': 'LOC100289381', 'score': 0.44}]
chr6	GH06I024749	24749002	24749800	0.31	[{'connected_gene': 'NUP50P2', 'score': 10.11}, {'connected_gene': 'C6orf62', 'score': 5.06}, {'connected_gene': 'LOC100289381', 'score': 0.77}, {'connected_gene': 'LOC105374978', 'score': 0.44}]
chr6	GH06I024973	24973818	24975606	0.85	[{'connected_gene': 'PPIAP29', 'score': 550.77}, {'connected_gene': 'C6orf62', 'score': 5.14}, {'connected_gene': 'MTCO2P33', 'score': 0.31}, {'connected_gene': 'RIPOR2', 'score': 0.2}]
chr6	GH06I024742	24742235	24744856	1.39	[{'connected_gene': 'LOC105374978', 'score': 550.77}, {'connected_gene': 'C6orf62', 'score': 12.87}, {'connected_gene': 'GMNN', 'score': 12.1}, {'connected_gene': 'KIAA0319', 'score': 10.42}, {'connected_gene': 'TDP2', 'score': 4.73}, {'connected_gene': 'KRT8P43', 'score': 4.49}, {'connected_gene': 'LOC100289381', 'score': 0.44}]
chr6	GH06I025169	25169529	25177063	1.6	[{'connected_gene': 'LOC100533655', 'score': 12.19}, {'connected_gene': 'CMAHP', 'score': 7.52}, {'connected_gene': 'C6orf62', 'score': 4.71}, {'connected_gene': 'GC06M025165', 'score': 0.77}, {'connected_gene': 'ENSG00000217805', 'score': 0.44}]
chr6	GH06I025177	25177392	25179999	1.39	[{'connected_gene': 'LOC100533655', 'score': 12.22}, {'connected_gene': 'CMAHP', 'score': 4.9}, {'connected_gene': 'C6orf62', 'score': 3.98}, {'connected_gene': 'ENSG00000217805', 'score': 0.77}, {'connected_gene': 'GC06M025165', 'score': 0.39}]
chr6	GH06I024698	24698599	24705714	0.63	[{'connected_gene': 'ENSG00000272345', 'score': 550.77}, {'connected_gene': 'TDP2', 'score': 24.74}, {'connected_gene': 'KIAA0319', 'score': 18.17}, {'connected_gene': 'ACOT13', 'score': 17.81}, {'connected_gene': 'C6orf62', 'score': 17.75}, {'connected_gene': 'GPLD1', 'score': 10.68}, {'connected_gene': 'ALDH5A1', 'score': 10.68}, {'connected_gene': 'ENSG00000272402', 'score': 0.77}]