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
ENST00000327158	[[900356, 900620], [902018, 902215], [902751, 902824], [904251, 906911]]	[[900382, 900620], [902018, 902215], [902751, 902824], [904251, 904328]]
NM_013337	[[900132, 900620], [902018, 902215], [902751, 902824], [904251, 905423]]	[[900382, 900620], [902018, 902215], [902751, 902824], [904251, 904328]]

Promoter

Chrom	Start	End	Description
chr17	900342	900390	CAGE_peak_1_at_TIMM22_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I000232	232601	235199	1.01	[{'connected_gene': 'DOC2B', 'score': 18.49}, {'connected_gene': 'FAM57A', 'score': 11.17}, {'connected_gene': 'RPH3AL', 'score': 10.68}, {'connected_gene': 'TIMM22', 'score': 9.88}, {'connected_gene': 'MRM3', 'score': 5.29}, {'connected_gene': 'GC17M000217', 'score': 0.44}, {'connected_gene': 'GC17P000246', 'score': 0.39}]
chr17	GH17I000237	237097	237859	0.43	[{'connected_gene': 'DOC2B', 'score': 12.07}, {'connected_gene': 'TIMM22', 'score': 9.52}, {'connected_gene': 'RPH3AL', 'score': 7.97}, {'connected_gene': 'MRM3', 'score': 5.58}, {'connected_gene': 'GC17P000246', 'score': 0.44}, {'connected_gene': 'GC17M000217', 'score': 0.39}]
chr17	GH17I000773	773520	774614	0.49	[{'connected_gene': 'FAM57A', 'score': 10.21}, {'connected_gene': 'TIMM22', 'score': 10.2}, {'connected_gene': 'DBIL5P', 'score': 8.82}, {'connected_gene': 'GLOD4', 'score': 0.44}, {'connected_gene': 'ENSG00000262228', 'score': 0.44}, {'connected_gene': 'MRM3', 'score': 0.44}]
chr17	GH17I000931	931927	936250	1.39	[{'connected_gene': 'NXN', 'score': 29.54}, {'connected_gene': 'GEMIN4', 'score': 12.09}, {'connected_gene': 'WDR81', 'score': 11.95}, {'connected_gene': 'TIMM22', 'score': 11.48}, {'connected_gene': 'PRPF8', 'score': 10.98}, {'connected_gene': 'GLOD4', 'score': 10.95}, {'connected_gene': 'MRM3', 'score': 10.32}, {'connected_gene': 'SMYD4', 'score': 9.8}, {'connected_gene': 'PIR34365', 'score': 0.44}, {'connected_gene': 'PIR40960', 'score': 0.39}]
chr17	GH17I000937	937174	938733	0.89	[{'connected_gene': 'NXN', 'score': 17.86}, {'connected_gene': 'TIMM22', 'score': 11.49}, {'connected_gene': 'GLOD4', 'score': 10.95}, {'connected_gene': 'MRM3', 'score': 10.32}, {'connected_gene': 'PIR34365', 'score': 0.77}, {'connected_gene': 'PIR40960', 'score': 0.37}]
chr17	GH17I000936	936981	937130	0.83	[{'connected_gene': 'NXN', 'score': 17.16}, {'connected_gene': 'TIMM22', 'score': 11.48}, {'connected_gene': 'GLOD4', 'score': 10.95}, {'connected_gene': 'MRM3', 'score': 10.32}, {'connected_gene': 'PIR34365', 'score': 0.77}, {'connected_gene': 'PIR40960', 'score': 0.37}]
chr17	GH17I000944	944209	944758	0.31	[{'connected_gene': 'NXN', 'score': 11.82}, {'connected_gene': 'TIMM22', 'score': 11.41}, {'connected_gene': 'GLOD4', 'score': 10.39}, {'connected_gene': 'MRM3', 'score': 10.39}, {'connected_gene': 'PIR34365', 'score': 0.77}, {'connected_gene': 'GC17P000949', 'score': 0.44}, {'connected_gene': 'GC17M000942', 'score': 0.39}]
chr17	GH17I000945	945757	946112	0.51	[{'connected_gene': 'NXN', 'score': 11.6}, {'connected_gene': 'TIMM22', 'score': 10.87}, {'connected_gene': 'GLOD4', 'score': 10.34}, {'connected_gene': 'MRM3', 'score': 10.34}, {'connected_gene': 'GC17P000949', 'score': 0.77}, {'connected_gene': 'PIR34365', 'score': 0.44}, {'connected_gene': 'GC17M000942', 'score': 0.39}]
chr17	GH17I000870	870994	873008	0.62	[{'connected_gene': 'NXN', 'score': 17.29}, {'connected_gene': 'TIMM22', 'score': 11.57}, {'connected_gene': 'ENSG00000262133', 'score': 9.05}, {'connected_gene': 'GC17P000796', 'score': 0.18}]
chr17	GH17I000924	924261	930877	1.42	[{'connected_gene': 'NXN', 'score': 17.92}, {'connected_gene': 'PRPF8', 'score': 17.0}, {'connected_gene': 'SMYD4', 'score': 12.98}, {'connected_gene': 'TIMM22', 'score': 10.91}, {'connected_gene': 'WDR81', 'score': 10.61}, {'connected_gene': 'RPA1', 'score': 9.81}, {'connected_gene': 'ENSG00000262920', 'score': 5.29}, {'connected_gene': 'PIR40960', 'score': 0.44}, {'connected_gene': 'PIR34365', 'score': 0.39}, {'connected_gene': 'GC17P000910', 'score': 0.37}]
chr17	GH17I000903	903199	906322	0.78	[{'connected_gene': 'NXN', 'score': 16.79}, {'connected_gene': 'LOC101927727', 'score': 11.97}, {'connected_gene': 'TIMM22', 'score': 11.77}, {'connected_gene': 'GC17P000910', 'score': 0.77}, {'connected_gene': 'ENSG00000262133', 'score': 0.31}]
chr17	GH17I000689	689401	696604	1.44	[{'connected_gene': 'VPS53', 'score': 28.12}, {'connected_gene': 'FAM57A', 'score': 23.83}, {'connected_gene': 'C17orf97', 'score': 11.76}, {'connected_gene': 'RFLNB', 'score': 11.3}, {'connected_gene': 'DOC2B', 'score': 10.4}, {'connected_gene': 'TIMM22', 'score': 10.12}, {'connected_gene': 'GEMIN4', 'score': 5.94}, {'connected_gene': 'ENSG00000263015', 'score': 4.98}, {'connected_gene': 'GC17M000676', 'score': 0.39}, {'connected_gene': 'GC17P000714', 'score': 0.34}]
chr17	GH17I000713	713945	717167	2.05	[{'connected_gene': 'VPS53', 'score': 591.04}, {'connected_gene': 'GC17P000714', 'score': 550.77}, {'connected_gene': 'FAM57A', 'score': 12.54}, {'connected_gene': 'DBIL5P', 'score': 11.3}, {'connected_gene': 'TIMM22', 'score': 10.62}, {'connected_gene': 'GLOD4', 'score': 10.34}, {'connected_gene': 'NXN', 'score': 10.18}, {'connected_gene': 'GEMIN4', 'score': 6.16}]
chr17	GH17I000721	721145	722464	0.74	[{'connected_gene': 'VPS53', 'score': 560.73}, {'connected_gene': 'TIMM22', 'score': 10.62}, {'connected_gene': 'GLOD4', 'score': 10.34}, {'connected_gene': 'NXN', 'score': 10.19}, {'connected_gene': 'GEMIN4', 'score': 6.18}, {'connected_gene': 'GC17M000727', 'score': 0.44}]
chr17	GH17I000737	737201	738497	0.31	[{'connected_gene': 'MRM3', 'score': 20.41}, {'connected_gene': 'DBIL5P', 'score': 13.91}, {'connected_gene': 'GLOD4', 'score': 11.25}, {'connected_gene': 'NXN', 'score': 11.17}, {'connected_gene': 'TIMM22', 'score': 10.39}, {'connected_gene': 'FAM57A', 'score': 8.15}, {'connected_gene': 'GEMIN4', 'score': 7.64}, {'connected_gene': 'ENSG00000262228', 'score': 7.56}, {'connected_gene': 'GC17M000743', 'score': 0.77}, {'connected_gene': 'PIR59934', 'score': 0.77}]
chr17	GH17I000755	755504	755532	0.38	[{'connected_gene': 'GEMIN4', 'score': 550.77}, {'connected_gene': 'GLOD4', 'score': 11.46}, {'connected_gene': 'TIMM22', 'score': 10.78}, {'connected_gene': 'GC17M000760', 'score': 0.77}, {'connected_gene': 'GC17M000759', 'score': 0.77}]
chr17	GH17I000754	754249	754384	0.31	[{'connected_gene': 'GEMIN4', 'score': 550.77}, {'connected_gene': 'DBIL5P', 'score': 550.77}, {'connected_gene': 'FAM57A', 'score': 11.59}, {'connected_gene': 'GLOD4', 'score': 11.3}, {'connected_gene': 'MRM3', 'score': 11.3}, {'connected_gene': 'TIMM22', 'score': 10.49}, {'connected_gene': 'GC17M000760', 'score': 0.44}, {'connected_gene': 'GC17M000759', 'score': 0.44}]
chr17	GH17I000750	750583	754070	2.03	[{'connected_gene': 'GEMIN4', 'score': 568.26}, {'connected_gene': 'DBIL5P', 'score': 564.12}, {'connected_gene': 'PIR42448', 'score': 550.77}, {'connected_gene': 'PRPF8', 'score': 34.05}, {'connected_gene': 'FAM57A', 'score': 22.46}, {'connected_gene': 'MRM3', 'score': 16.61}, {'connected_gene': 'WDR81', 'score': 14.01}, {'connected_gene': 'GLOD4', 'score': 11.48}, {'connected_gene': 'VPS53', 'score': 10.96}, {'connected_gene': 'ENSG00000262920', 'score': 10.49}, {'connected_gene': 'TIMM22', 'score': 10.49}, {'connected_gene': 'ENSG00000262777', 'score': 10.03}]
chr17	GH17I001484	1484053	1493258	2.61	[{'connected_gene': 'MYO1C', 'score': 557.61}, {'connected_gene': 'PITPNA', 'score': 16.94}, {'connected_gene': 'PRPF8', 'score': 15.89}, {'connected_gene': 'WDR81', 'score': 14.01}, {'connected_gene': 'SMYD4', 'score': 12.68}, {'connected_gene': 'GEMIN4', 'score': 11.47}, {'connected_gene': 'DPH1', 'score': 11.43}, {'connected_gene': 'YWHAE', 'score': 11.07}, {'connected_gene': 'ENSG00000262228', 'score': 9.97}, {'connected_gene': 'INPP5K', 'score': 9.77}, {'connected_gene': 'TUSC5', 'score': 5.77}, {'connected_gene': 'RPS4XP17', 'score': 5.66}, {'connected_gene': 'TIMM22', 'score': 5.55}, {'connected_gene': 'LOC105371483', 'score': 0.77}, {'connected_gene': 'GC17M001482', 'score': 0.44}]
chr17	GH17I001060	1060443	1061769	0.94	[{'connected_gene': 'TIMM22', 'score': 11.61}, {'connected_gene': 'NXN', 'score': 10.45}, {'connected_gene': 'GLOD4', 'score': 10.08}, {'connected_gene': 'MRM3', 'score': 10.07}, {'connected_gene': 'MIR22HG', 'score': 5.34}, {'connected_gene': 'ABR', 'score': 4.94}, {'connected_gene': 'MIR3183', 'score': 0.28}, {'connected_gene': 'ENSG00000278794', 'score': 0.26}]
chr17	GH17I001058	1058413	1060153	0.72	[{'connected_gene': 'TIMM22', 'score': 11.61}, {'connected_gene': 'NXN', 'score': 10.46}, {'connected_gene': 'GLOD4', 'score': 10.08}, {'connected_gene': 'MRM3', 'score': 10.07}, {'connected_gene': 'MIR22HG', 'score': 5.37}, {'connected_gene': 'MIR3183', 'score': 0.28}, {'connected_gene': 'ENSG00000278794', 'score': 0.26}, {'connected_gene': 'ABR', 'score': 0.1}]
chr17	GH17I000946	946561	947637	0.2	[{'connected_gene': 'TIMM22', 'score': 15.55}, {'connected_gene': 'NXN', 'score': 11.6}, {'connected_gene': 'GLOD4', 'score': 10.34}, {'connected_gene': 'MRM3', 'score': 10.34}, {'connected_gene': 'GC17P000949', 'score': 0.77}, {'connected_gene': 'PIR34365', 'score': 0.44}, {'connected_gene': 'GC17M000942', 'score': 0.44}]
chr17	GH17I000999	999421	1006797	1.1	[{'connected_gene': 'TIMM22', 'score': 30.03}, {'connected_gene': 'NXN', 'score': 11.63}, {'connected_gene': 'GLOD4', 'score': 10.63}, {'connected_gene': 'MYO1C', 'score': 4.71}, {'connected_gene': 'INPP5K', 'score': 4.7}, {'connected_gene': 'GC17P001008', 'score': 0.44}, {'connected_gene': 'ABR', 'score': 0.07}]
chr17	GH17I001037	1037393	1041000	1.25	[{'connected_gene': 'TIMM22', 'score': 11.92}, {'connected_gene': 'NXN', 'score': 11.14}, {'connected_gene': 'GLOD4', 'score': 10.41}, {'connected_gene': 'ABR', 'score': 7.61}, {'connected_gene': 'MYO1C', 'score': 3.07}, {'connected_gene': 'MIR3183', 'score': 0.37}, {'connected_gene': 'ENSG00000278794', 'score': 0.21}]
chr17	GH17I001025	1025613	1028044	0.2	[{'connected_gene': 'TIMM22', 'score': 20.15}, {'connected_gene': 'NXN', 'score': 11.13}, {'connected_gene': 'GLOD4', 'score': 10.46}, {'connected_gene': 'MIR3183', 'score': 0.77}, {'connected_gene': 'ENSG00000278794', 'score': 0.19}, {'connected_gene': 'ABR', 'score': 0.08}]
chr17	GH17I001073	1073270	1077095	0.88	[{'connected_gene': 'TIMM22', 'score': 11.0}, {'connected_gene': 'NXN', 'score': 10.17}, {'connected_gene': 'ABR', 'score': 4.83}, {'connected_gene': 'ENSG00000278794', 'score': 0.31}, {'connected_gene': 'MIR3183', 'score': 0.23}]
chr17	GH17I000969	969036	970934	1.22	[{'connected_gene': 'TIMM22', 'score': 12.05}, {'connected_gene': 'GLOD4', 'score': 10.81}, {'connected_gene': 'NXN', 'score': 0.44}, {'connected_gene': 'ENSG00000263017', 'score': 0.39}]
chr17	GH17I000972	972294	974088	0.51	[{'connected_gene': 'TIMM22', 'score': 11.76}, {'connected_gene': 'GLOD4', 'score': 10.7}, {'connected_gene': 'NXN', 'score': 0.44}, {'connected_gene': 'ENSG00000263017', 'score': 0.39}]
chr17	GH17I000964	964056	966620	1.17	[{'connected_gene': 'TIMM22', 'score': 11.71}, {'connected_gene': 'GLOD4', 'score': 10.58}, {'connected_gene': 'MRM3', 'score': 10.58}, {'connected_gene': 'NXN', 'score': 5.02}, {'connected_gene': 'ENSG00000263017', 'score': 0.44}, {'connected_gene': 'GC17P000949', 'score': 0.37}]
chr17	GH17I001053	1053122	1055251	0.38	[{'connected_gene': 'TIMM22', 'score': 11.45}, {'connected_gene': 'GLOD4', 'score': 10.28}, {'connected_gene': 'MRM3', 'score': 9.54}, {'connected_gene': 'CRK', 'score': 5.27}, {'connected_gene': 'MIR3183', 'score': 0.29}, {'connected_gene': 'ENSG00000278794', 'score': 0.25}, {'connected_gene': 'ABR', 'score': 0.09}]
chr17	GH17I001046	1046592	1048543	0.51	[{'connected_gene': 'TIMM22', 'score': 11.89}, {'connected_gene': 'GLOD4', 'score': 10.41}, {'connected_gene': 'ABR', 'score': 9.06}, {'connected_gene': 'MIR3183', 'score': 0.31}, {'connected_gene': 'ENSG00000278794', 'score': 0.23}]
chr17	GH17I001043	1043113	1044529	0.97	[{'connected_gene': 'TIMM22', 'score': 11.91}, {'connected_gene': 'GLOD4', 'score': 10.41}, {'connected_gene': 'ABR', 'score': 6.94}, {'connected_gene': 'MIR3183', 'score': 0.34}, {'connected_gene': 'ENSG00000278794', 'score': 0.22}]
chr17	GH17I001045	1045212	1046084	0.31	[{'connected_gene': 'TIMM22', 'score': 11.91}, {'connected_gene': 'GLOD4', 'score': 10.41}, {'connected_gene': 'ABR', 'score': 7.21}, {'connected_gene': 'MIR3183', 'score': 0.34}, {'connected_gene': 'ENSG00000278794', 'score': 0.22}]
chr17	GH17I001050	1050295	1051877	0.38	[{'connected_gene': 'TIMM22', 'score': 10.91}, {'connected_gene': 'GLOD4', 'score': 10.28}, {'connected_gene': 'MIR3183', 'score': 0.31}, {'connected_gene': 'ENSG00000278794', 'score': 0.23}, {'connected_gene': 'ABR', 'score': 0.1}]
chr17	GH17I001056	1056141	1056310	0.85	[{'connected_gene': 'TIMM22', 'score': 11.45}, {'connected_gene': 'GLOD4', 'score': 9.42}, {'connected_gene': 'MIR3183', 'score': 0.29}, {'connected_gene': 'ENSG00000278794', 'score': 0.25}, {'connected_gene': 'ABR', 'score': 0.09}]
chr17	GH17I000996	996161	998331	2.12	[{'connected_gene': 'TIMM22', 'score': 568.7}, {'connected_gene': 'MYO1C', 'score': 13.29}, {'connected_gene': 'RPA1', 'score': 11.04}, {'connected_gene': 'FAM57A', 'score': 10.59}, {'connected_gene': 'ENSG00000262228', 'score': 10.09}, {'connected_gene': 'GEMIN4', 'score': 10.01}, {'connected_gene': 'PRPF8', 'score': 9.97}, {'connected_gene': 'GC17P001008', 'score': 0.39}]
chr17	GH17I001016	1016375	1017648	0.2	[{'connected_gene': 'TIMM22', 'score': 10.34}, {'connected_gene': 'LOC105371481', 'score': 0.77}, {'connected_gene': 'MIR3183', 'score': 0.44}, {'connected_gene': 'ABR', 'score': 0.08}]
chr17	GH17I001018	1018500	1020611	0.86	[{'connected_gene': 'TIMM22', 'score': 8.62}, {'connected_gene': 'MIR3183', 'score': 0.77}, {'connected_gene': 'LOC105371481', 'score': 0.44}, {'connected_gene': 'ABR', 'score': 0.08}]
chr17	GH17I000998	998341	998490	0.46	[{'connected_gene': 'TIMM22', 'score': 550.77}, {'connected_gene': 'GC17P001008', 'score': 0.44}]
chr17	GH17I001001	999404	999410	0.58	[{'connected_gene': 'TIMM22', 'score': 0.77}, {'connected_gene': 'GC17P001008', 'score': 0.44}]
chr17	GH17I000997	996061	996130	0.38	[{'connected_gene': 'TIMM22', 'score': 550.77}, {'connected_gene': 'GC17M000988', 'score': 0.77}]
chr17	GH17I001000	999181	999370	0.69	[{'connected_gene': 'TIMM22', 'score': 18.0}, {'connected_gene': 'GC17P001008', 'score': 0.44}]
chr17	GH17I001010	1010522	1014057	0.62	[{'connected_gene': 'LOC105371481', 'score': 550.77}, {'connected_gene': 'TIMM22', 'score': 5.85}, {'connected_gene': 'PIR47083', 'score': 0.77}, {'connected_gene': 'ABR', 'score': 0.08}]
chr17	GH17I000908	908632	912242	1.07	[{'connected_gene': 'LOC101927727', 'score': 567.11}, {'connected_gene': 'GC17P000910', 'score': 550.77}, {'connected_gene': 'NXN', 'score': 16.71}, {'connected_gene': 'TIMM22', 'score': 11.07}, {'connected_gene': 'PIR40960', 'score': 0.39}]
chr17	GH17I001022	1022393	1022898	0.4	[{'connected_gene': 'MIR3183', 'score': 550.77}, {'connected_gene': 'TIMM22', 'score': 7.87}, {'connected_gene': 'ENSG00000278794', 'score': 0.18}, {'connected_gene': 'ABR', 'score': 0.08}]
chr17	GH17I000756	755838	757283	0.31	[{'connected_gene': 'DBIL5P', 'score': 15.08}, {'connected_gene': 'GLOD4', 'score': 11.46}, {'connected_gene': 'TIMM22', 'score': 10.78}, {'connected_gene': 'VPS53', 'score': 8.39}, {'connected_gene': 'GC17M000760', 'score': 0.77}, {'connected_gene': 'GEMIN4', 'score': 0.77}, {'connected_gene': 'GC17M000759', 'score': 0.77}]
chr17	GH17I000794	794461	796310	1.17	[{'connected_gene': 'ENSG00000277491', 'score': 550.77}, {'connected_gene': 'GC17P000796', 'score': 550.77}, {'connected_gene': 'FAM57A', 'score': 14.12}, {'connected_gene': 'VPS53', 'score': 13.4}, {'connected_gene': 'NXN', 'score': 11.44}, {'connected_gene': 'TIMM22', 'score': 11.03}, {'connected_gene': 'GEMIN4', 'score': 8.19}, {'connected_gene': 'MRM3', 'score': 7.24}, {'connected_gene': 'DBIL5P', 'score': 5.67}]
chr17	GH17I000949	949402	952957	1.24	[{'connected_gene': 'GC17P000949', 'score': 550.77}, {'connected_gene': 'NXN', 'score': 16.86}, {'connected_gene': 'TIMM22', 'score': 10.88}, {'connected_gene': 'GLOD4', 'score': 10.35}, {'connected_gene': 'MRM3', 'score': 10.35}, {'connected_gene': 'LOC100506388', 'score': 4.93}, {'connected_gene': 'GC17M000942', 'score': 0.77}]
chr17	GH17I000948	948135	948921	0.58	[{'connected_gene': 'GC17P000949', 'score': 550.77}, {'connected_gene': 'NXN', 'score': 16.25}, {'connected_gene': 'TIMM22', 'score': 10.88}, {'connected_gene': 'GLOD4', 'score': 10.35}, {'connected_gene': 'MRM3', 'score': 10.35}, {'connected_gene': 'PIR34365', 'score': 0.44}, {'connected_gene': 'GC17M000942', 'score': 0.44}]
chr17	GH17I001007	1007187	1009531	0.4	[{'connected_gene': 'PIR47083', 'score': 550.77}, {'connected_gene': 'GC17P001008', 'score': 550.77}, {'connected_gene': 'TIMM22', 'score': 26.26}, {'connected_gene': 'ABR', 'score': 0.07}]