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
ENST00000256951	[[13349649, 13349806], [13364402, 13364522], [13366412, 13366509], [13366614, 13366755], [13367467, 13369708]]	[[13364444, 13364522], [13366412, 13366509], [13366614, 13366755], [13367467, 13367625]]
ENST00000537612	[[13364444, 13364522], [13366412, 13366509], [13369377, 13369707]]	[[13364444, 13364522], [13366412, 13366509], [13369377, 13369412]]
ENST00000431267	[[13349656, 13349806], [13366614, 13366755], [13367467, 13368215]]	[[13366640, 13366755], [13367467, 13367625]]
ENST00000542474	[[13349659, 13349806], [13352111, 13352467], [13364402, 13364454]]	[[13364444, 13364454]]
ENST00000544053	[[13349659, 13349806], [13366412, 13366509], [13366614, 13367806]]	[[13366640, 13366925]]
ENST00000542289	[[13349659, 13349806], [13364402, 13364474], [13367969, 13368329]]	None
ENST00000538364	[[13349716, 13349806], [13364402, 13364522], [13366412, 13366509], [13366614, 13366878]]	[[13364444, 13364522], [13366412, 13366509], [13366614, 13366878]]
ENST00000535134	[[13349719, 13349806], [13362033, 13362504]]	None
ENST00000541935	[[13349719, 13349806], [13364402, 13364836]]	None
ENST00000396301	[[13349719, 13349806], [13364402, 13364522], [13366412, 13366509], [13366614, 13366755], [13367504, 13367734]]	[[13364444, 13364522], [13366412, 13366509], [13366614, 13366755], [13367504, 13367614]]
ENST00000536383	[[13366348, 13366509], [13366614, 13366755], [13367467, 13367752]]	None
ENST00000546357	[[13366385, 13366509], [13366614, 13367299]]	None
NM_001423	[[13349601, 13349806], [13364402, 13364522], [13366412, 13366509], [13366614, 13366755], [13367467, 13369708]]	[[13364444, 13364522], [13366412, 13366509], [13366614, 13366755], [13367467, 13367625]]

Promoter

Chrom	Start	End	Description
chr12	13349462	13349483	CAGE_peak_5_at_EMP1_5end
chr12	13349486	13349495	CAGE_peak_11_at_EMP1_5end
chr12	13349524	13349549	CAGE_peak_3_at_EMP1_5end
chr12	13349652	13349667	CAGE_peak_2_at_EMP1_5end
chr12	13349711	13349728	CAGE_peak_1_at_EMP1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I012990	12990438	12994399	1.44	[{'connected_gene': 'HTR7P1', 'score': 28.03}, {'connected_gene': 'ENSG00000255621', 'score': 14.37}, {'connected_gene': 'HEBP1', 'score': 7.71}, {'connected_gene': 'DUSP16', 'score': 6.5}, {'connected_gene': 'FAM234B', 'score': 5.42}, {'connected_gene': 'EMP1', 'score': 3.89}, {'connected_gene': 'GC12M012990', 'score': 0.44}, {'connected_gene': 'GC12P012980', 'score': 0.39}]
chr12	GH12I012887	12887554	12894822	2.21	[{'connected_gene': 'GPRC5A', 'score': 560.29}, {'connected_gene': 'DDX47', 'score': 23.27}, {'connected_gene': 'EMP1', 'score': 12.54}, {'connected_gene': 'LRP6', 'score': 10.0}, {'connected_gene': 'GC12P012922', 'score': 0.34}]
chr12	GH12I013177	13177747	13180314	1.31	[{'connected_gene': 'GSG1', 'score': 11.79}, {'connected_gene': 'MIR614', 'score': 9.92}, {'connected_gene': 'EMP1', 'score': 5.62}, {'connected_gene': 'GC12M013185', 'score': 0.44}, {'connected_gene': 'GC12P013156', 'score': 0.31}]
chr12	GH12I013093	13093202	13095199	1.46	[{'connected_gene': 'GSG1', 'score': 6.4}, {'connected_gene': 'EMP1', 'score': 5.94}, {'connected_gene': 'GC12P013100', 'score': 0.44}, {'connected_gene': 'PIR34161', 'score': 0.31}, {'connected_gene': 'FAM234B', 'score': 0.25}]
chr12	GH12I013096	13096463	13103713	2.58	[{'connected_gene': 'GSG1', 'score': 558.17}, {'connected_gene': 'LOC105369666', 'score': 550.77}, {'connected_gene': 'GC12P013100', 'score': 550.77}, {'connected_gene': 'HTR7P1', 'score': 5.05}, {'connected_gene': 'EMP1', 'score': 4.84}, {'connected_gene': 'CDKN1B', 'score': 3.9}, {'connected_gene': 'LOC105369665', 'score': 0.77}, {'connected_gene': 'PIR34161', 'score': 0.29}, {'connected_gene': 'FAM234B', 'score': 0.22}]
chr12	GH12I013243	13243004	13244017	0.2	[{'connected_gene': 'MIR614', 'score': 11.13}, {'connected_gene': 'EMP1', 'score': 10.53}, {'connected_gene': 'HEBP1', 'score': 6.33}, {'connected_gene': 'GC12M013223', 'score': 0.37}, {'connected_gene': 'GC12M013257', 'score': 0.37}]
chr12	GH12I013241	13241515	13242919	0.54	[{'connected_gene': 'MIR614', 'score': 11.13}, {'connected_gene': 'EMP1', 'score': 10.53}, {'connected_gene': 'GC12M013223', 'score': 0.37}, {'connected_gene': 'GC12M013257', 'score': 0.37}]
chr12	GH12I013215	13213907	13214056	0.4	[{'connected_gene': 'MIR614', 'score': 11.05}, {'connected_gene': 'GPRC5D-AS1', 'score': 10.47}, {'connected_gene': 'GPRC5D', 'score': 10.42}, {'connected_gene': 'ENSG00000256011', 'score': 9.96}, {'connected_gene': 'GC12P013222', 'score': 0.44}, {'connected_gene': 'GC12M013206', 'score': 0.44}, {'connected_gene': 'EMP1', 'score': 0.37}]
chr12	GH12I013216	13213647	13213796	0.4	[{'connected_gene': 'MIR614', 'score': 11.05}, {'connected_gene': 'GPRC5D-AS1', 'score': 10.47}, {'connected_gene': 'GPRC5D', 'score': 10.42}, {'connected_gene': 'ENSG00000256011', 'score': 9.96}, {'connected_gene': 'GC12P013222', 'score': 0.44}, {'connected_gene': 'GC12M013206', 'score': 0.44}, {'connected_gene': 'EMP1', 'score': 0.37}]
chr12	GH12I013213	13213109	13213449	0.4	[{'connected_gene': 'MIR614', 'score': 11.05}, {'connected_gene': 'GPRC5D-AS1', 'score': 10.47}, {'connected_gene': 'GPRC5D', 'score': 10.42}, {'connected_gene': 'ENSG00000256011', 'score': 9.96}, {'connected_gene': 'GC12P013222', 'score': 0.44}, {'connected_gene': 'GC12M013206', 'score': 0.44}, {'connected_gene': 'EMP1', 'score': 0.37}]
chr12	GH12I013043	13043807	13045201	1.93	[{'connected_gene': 'FAM234B', 'score': 571.23}, {'connected_gene': 'GC12P013050', 'score': 550.77}, {'connected_gene': 'ENSG00000255621', 'score': 11.43}, {'connected_gene': 'HTR7P1', 'score': 11.43}, {'connected_gene': 'HEBP1', 'score': 11.43}, {'connected_gene': 'EMP1', 'score': 10.43}, {'connected_gene': 'MIR614', 'score': 10.17}]
chr12	GH12I013060	13060698	13063327	1.03	[{'connected_gene': 'FAM234B', 'score': 21.07}, {'connected_gene': 'GSG1', 'score': 11.03}, {'connected_gene': 'EMP1', 'score': 10.8}, {'connected_gene': 'MIR614', 'score': 10.07}, {'connected_gene': 'DUSP16', 'score': 2.41}, {'connected_gene': 'PIR34161', 'score': 0.77}, {'connected_gene': 'GC12P013052', 'score': 0.44}]
chr12	GH12I013086	13086941	13089661	0.74	[{'connected_gene': 'FAM234B', 'score': 15.39}, {'connected_gene': 'HEBP1', 'score': 15.22}, {'connected_gene': 'EMP1', 'score': 11.55}, {'connected_gene': 'ENSG00000256011', 'score': 10.28}, {'connected_gene': 'ENSG00000255621', 'score': 10.27}, {'connected_gene': 'HTR7P1', 'score': 10.27}, {'connected_gene': 'MIR614', 'score': 10.09}, {'connected_gene': 'GPRC5D', 'score': 9.94}, {'connected_gene': 'GC12P013100', 'score': 0.39}, {'connected_gene': 'GSG1', 'score': 0.37}, {'connected_gene': 'PIR34161', 'score': 0.34}]
chr12	GH12I012977	12977925	12978053	0.63	[{'connected_gene': 'GPRC5D', 'score': 550.77}, {'connected_gene': 'MIR614', 'score': 11.08}, {'connected_gene': 'ENSG00000255621', 'score': 11.01}, {'connected_gene': 'HTR7P1', 'score': 11.01}, {'connected_gene': 'HEBP1', 'score': 11.01}, {'connected_gene': 'DDX47', 'score': 10.14}, {'connected_gene': 'EMP1', 'score': 9.93}, {'connected_gene': 'ENSG00000221611', 'score': 0.44}, {'connected_gene': 'GPRC5D-AS1', 'score': 0.23}]
chr12	GH12I012983	12983547	12983756	0.74	[{'connected_gene': 'DDX47', 'score': 13.25}, {'connected_gene': 'HEBP1', 'score': 11.61}, {'connected_gene': 'HTR7P1', 'score': 11.57}, {'connected_gene': 'MIR614', 'score': 10.87}, {'connected_gene': 'LOC100506248', 'score': 10.4}, {'connected_gene': 'EMP1', 'score': 9.5}, {'connected_gene': 'FAM234B', 'score': 5.83}, {'connected_gene': 'GC12P012980', 'score': 0.77}, {'connected_gene': 'GC12M012990', 'score': 0.39}, {'connected_gene': 'GPRC5D-AS1', 'score': 0.22}]
chr12	GH12I013117	13117767	13119464	0.58	[{'connected_gene': 'EMP1', 'score': 16.77}, {'connected_gene': 'HTR7P1', 'score': 6.71}, {'connected_gene': 'GC12P013123', 'score': 0.44}, {'connected_gene': 'GSG1', 'score': 0.39}, {'connected_gene': 'FAM234B', 'score': 0.19}]
chr12	GH12I013193	13193348	13212836	2.53	[{'connected_gene': 'EMP1', 'score': 555.63}, {'connected_gene': 'HTR7P1', 'score': 15.78}, {'connected_gene': 'MIR614', 'score': 11.87}, {'connected_gene': 'GSG1', 'score': 11.86}, {'connected_gene': 'DDX47', 'score': 11.73}, {'connected_gene': 'GPRC5D-AS1', 'score': 11.25}, {'connected_gene': 'ENSG00000255621', 'score': 11.25}, {'connected_gene': 'HEBP1', 'score': 11.25}, {'connected_gene': 'ENSG00000221611', 'score': 10.54}, {'connected_gene': 'LOH12CR2', 'score': 10.46}, {'connected_gene': 'ENSG00000256011', 'score': 10.46}, {'connected_gene': 'GPRC5D', 'score': 10.43}, {'connected_gene': 'GC12M013198', 'score': 0.77}, {'connected_gene': 'GC12M013206', 'score': 0.77}]
chr12	GH12I013029	13029327	13029456	0.31	[{'connected_gene': 'EMP1', 'score': 11.67}, {'connected_gene': 'ENSG00000255621', 'score': 11.35}, {'connected_gene': 'HTR7P1', 'score': 11.35}, {'connected_gene': 'HEBP1', 'score': 11.35}, {'connected_gene': 'MIR614', 'score': 11.26}, {'connected_gene': 'GPRC5D', 'score': 10.16}, {'connected_gene': 'RPS26P46', 'score': 0.44}, {'connected_gene': 'FAM234B', 'score': 0.39}]
chr12	GH12I013163	13163402	13168224	1.35	[{'connected_gene': 'EMP1', 'score': 17.84}, {'connected_gene': 'ENSG00000255621', 'score': 15.43}, {'connected_gene': 'GSG1', 'score': 11.92}, {'connected_gene': 'HTR7P1', 'score': 11.0}, {'connected_gene': 'HEBP1', 'score': 11.0}, {'connected_gene': 'FAM234B', 'score': 4.61}, {'connected_gene': 'GC12P013156', 'score': 0.39}, {'connected_gene': 'GC12M013185', 'score': 0.34}]
chr12	GH12I013114	13114107	13117380	1.13	[{'connected_gene': 'EMP1', 'score': 11.21}, {'connected_gene': 'ENSG00000256011', 'score': 9.32}, {'connected_gene': 'GSG1', 'score': 6.15}, {'connected_gene': 'GC12P013123', 'score': 0.44}, {'connected_gene': 'FAM234B', 'score': 0.19}]
chr12	GH12I013079	13079208	13079939	1.04	[{'connected_gene': 'EMP1', 'score': 10.99}, {'connected_gene': 'GSG1', 'score': 10.92}, {'connected_gene': 'GPRC5D', 'score': 9.41}, {'connected_gene': 'PIR34161', 'score': 0.39}, {'connected_gene': 'GC12P013100', 'score': 0.34}, {'connected_gene': 'FAM234B', 'score': 0.28}]
chr12	GH12I013147	13147647	13149801	0.92	[{'connected_gene': 'EMP1', 'score': 12.57}, {'connected_gene': 'GSG1', 'score': 11.75}, {'connected_gene': 'GPRC5D', 'score': 9.95}, {'connected_gene': 'GC12P013156', 'score': 0.77}, {'connected_gene': 'GC12P013142', 'score': 0.44}]
chr12	GH12I013146	13146647	13146796	0.84	[{'connected_gene': 'EMP1', 'score': 12.17}, {'connected_gene': 'GSG1', 'score': 11.77}, {'connected_gene': 'GPRC5D', 'score': 9.53}, {'connected_gene': 'GC12P013142', 'score': 0.77}, {'connected_gene': 'GC12P013156', 'score': 0.44}]
chr12	GH12I013170	13170306	13170875	0.2	[{'connected_gene': 'EMP1', 'score': 12.82}, {'connected_gene': 'GSG1', 'score': 11.51}, {'connected_gene': 'GC12P013156', 'score': 0.37}, {'connected_gene': 'GC12M013185', 'score': 0.37}]
chr12	GH12I013171	13171194	13176566	1.44	[{'connected_gene': 'EMP1', 'score': 18.69}, {'connected_gene': 'GSG1', 'score': 11.8}, {'connected_gene': 'GC12M013185', 'score': 0.39}, {'connected_gene': 'GC12P013156', 'score': 0.34}]
chr12	GH12I013168	13168805	13169733	0.49	[{'connected_gene': 'EMP1', 'score': 12.82}, {'connected_gene': 'GSG1', 'score': 11.51}, {'connected_gene': 'GC12P013156', 'score': 0.37}, {'connected_gene': 'GC12M013185', 'score': 0.37}]
chr12	GH12I013214	13214726	13219465	0.43	[{'connected_gene': 'EMP1', 'score': 11.37}, {'connected_gene': 'MIR614', 'score': 11.31}, {'connected_gene': 'ENSG00000256011', 'score': 10.61}, {'connected_gene': 'ENSG00000221611', 'score': 10.53}, {'connected_gene': 'GPRC5D-AS1', 'score': 10.48}, {'connected_gene': 'GPRC5D', 'score': 10.42}, {'connected_gene': 'GSG1', 'score': 10.3}, {'connected_gene': 'GC12P013222', 'score': 0.44}, {'connected_gene': 'GC12M013206', 'score': 0.39}]
chr12	GH12I013104	13104536	13104711	0.63	[{'connected_gene': 'LOC105369665', 'score': 550.77}, {'connected_gene': 'GSG1', 'score': 550.77}, {'connected_gene': 'EMP1', 'score': 3.58}, {'connected_gene': 'GC12P013100', 'score': 0.77}, {'connected_gene': 'GC12P013123', 'score': 0.37}, {'connected_gene': 'FAM234B', 'score': 0.21}]
chr12	GH12I013039	13039707	13039856	0.38	[{'connected_gene': 'ENSG00000255621', 'score': 11.44}, {'connected_gene': 'HTR7P1', 'score': 11.44}, {'connected_gene': 'HEBP1', 'score': 11.44}, {'connected_gene': 'EMP1', 'score': 10.43}, {'connected_gene': 'MIR614', 'score': 10.17}, {'connected_gene': 'FAM234B', 'score': 0.77}, {'connected_gene': 'RPS26P46', 'score': 0.37}]
chr12	GH12I013130	13130801	13131000	0.2	[{'connected_gene': 'GC12M013129', 'score': 550.77}, {'connected_gene': 'GSG1', 'score': 11.86}, {'connected_gene': 'EMP1', 'score': 11.27}, {'connected_gene': 'PIR54575', 'score': 0.77}, {'connected_gene': 'GC12P013128', 'score': 0.77}, {'connected_gene': 'FAM234B', 'score': 0.17}]
chr12	GH12I012978	12978476	12981416	0.94	[{'connected_gene': 'GC12P012980', 'score': 550.77}, {'connected_gene': 'GPRC5D', 'score': 550.77}, {'connected_gene': 'HEBP1', 'score': 24.04}, {'connected_gene': 'MIR614', 'score': 11.08}, {'connected_gene': 'ENSG00000255621', 'score': 11.01}, {'connected_gene': 'HTR7P1', 'score': 11.01}, {'connected_gene': 'GPRC5D-AS1', 'score': 10.46}, {'connected_gene': 'DDX47', 'score': 10.14}, {'connected_gene': 'EMP1', 'score': 9.93}]
chr12	GH12I012975	12975177	12977620	1.09	[{'connected_gene': 'ENSG00000255621', 'score': 17.24}, {'connected_gene': 'HEBP1', 'score': 15.54}, {'connected_gene': 'MIR614', 'score': 11.08}, {'connected_gene': 'HTR7P1', 'score': 11.01}, {'connected_gene': 'DDX47', 'score': 10.14}, {'connected_gene': 'EMP1', 'score': 9.93}, {'connected_gene': 'GPRC5D', 'score': 0.77}, {'connected_gene': 'ENSG00000221611', 'score': 0.77}, {'connected_gene': 'GPRC5D-AS1', 'score': 0.25}]
chr12	GH12I013133	13133873	13137185	1.15	[{'connected_gene': 'GC12P013134', 'score': 550.77}, {'connected_gene': 'EMP1', 'score': 23.79}, {'connected_gene': 'GSG1', 'score': 12.99}, {'connected_gene': 'MIR614', 'score': 10.39}, {'connected_gene': 'ENSG00000255621', 'score': 9.7}, {'connected_gene': 'HTR7P1', 'score': 9.7}, {'connected_gene': 'HEBP1', 'score': 9.7}, {'connected_gene': 'GC12P013138', 'score': 0.77}, {'connected_gene': 'FAM234B', 'score': 0.16}]
chr12	GH12I013127	13127732	13129503	0.52	[{'connected_gene': 'GC12P013128', 'score': 550.77}, {'connected_gene': 'PIR54575', 'score': 550.77}, {'connected_gene': 'EMP1', 'score': 12.15}, {'connected_gene': 'GSG1', 'score': 11.89}, {'connected_gene': 'MIR614', 'score': 10.18}, {'connected_gene': 'ENSG00000255621', 'score': 9.88}, {'connected_gene': 'HTR7P1', 'score': 9.88}, {'connected_gene': 'HEBP1', 'score': 9.88}, {'connected_gene': 'GC12M013129', 'score': 0.77}, {'connected_gene': 'FAM234B', 'score': 0.18}]
chr12	GH12I013131	13131861	13132965	0.2	[{'connected_gene': 'GC12M013129', 'score': 550.77}, {'connected_gene': 'EMP1', 'score': 25.28}, {'connected_gene': 'GSG1', 'score': 11.86}, {'connected_gene': 'GC12P013134', 'score': 0.77}, {'connected_gene': 'FAM234B', 'score': 0.17}]
chr12	GH12I013008	13008333	13009831	0.2	[{'connected_gene': 'ENSG00000221611', 'score': 10.6}, {'connected_gene': 'EMP1', 'score': 10.54}, {'connected_gene': 'GSG1', 'score': 10.44}, {'connected_gene': 'GPRC5D', 'score': 10.43}, {'connected_gene': 'GPRC5D-AS1', 'score': 10.35}, {'connected_gene': 'MIR614', 'score': 10.21}, {'connected_gene': 'ENSG00000255621', 'score': 8.4}, {'connected_gene': 'GC12P013002', 'score': 0.44}, {'connected_gene': 'RPS26P46', 'score': 0.39}]
chr12	GH12I013153	13153946	13154800	0.58	[{'connected_gene': 'GC12P013156', 'score': 550.77}, {'connected_gene': 'EMP1', 'score': 12.08}, {'connected_gene': 'GSG1', 'score': 11.92}, {'connected_gene': 'GC12M013185', 'score': 0.29}]
chr12	GH12I013152	13152387	13152536	0.4	[{'connected_gene': 'GC12P013156', 'score': 550.77}, {'connected_gene': 'EMP1', 'score': 12.59}, {'connected_gene': 'GSG1', 'score': 11.46}, {'connected_gene': 'GC12M013185', 'score': 0.29}]
chr12	GH12I013124	13124685	13126161	0.81	[{'connected_gene': 'GC12P013128', 'score': 550.77}, {'connected_gene': 'PIR54575', 'score': 550.77}, {'connected_gene': 'GC12P013123', 'score': 550.77}, {'connected_gene': 'EMP1', 'score': 17.79}, {'connected_gene': 'MIR614', 'score': 10.18}, {'connected_gene': 'HTR7P1', 'score': 9.7}, {'connected_gene': 'HEBP1', 'score': 9.7}, {'connected_gene': 'ENSG00000255621', 'score': 9.69}, {'connected_gene': 'FAM234B', 'score': 0.18}]
chr12	GH12I013128	13127547	13127696	0.52	[{'connected_gene': 'GC12P013128', 'score': 550.77}, {'connected_gene': 'PIR54575', 'score': 550.77}, {'connected_gene': 'EMP1', 'score': 12.15}, {'connected_gene': 'MIR614', 'score': 10.18}, {'connected_gene': 'ENSG00000255621', 'score': 9.7}, {'connected_gene': 'HTR7P1', 'score': 9.7}, {'connected_gene': 'HEBP1', 'score': 9.7}, {'connected_gene': 'GC12M013129', 'score': 0.77}, {'connected_gene': 'FAM234B', 'score': 0.18}]
chr12	GH12I013005	13005767	13005956	0.52	[{'connected_gene': 'ENSG00000221611', 'score': 10.62}, {'connected_gene': 'EMP1', 'score': 10.54}, {'connected_gene': 'GPRC5D', 'score': 10.43}, {'connected_gene': 'MIR614', 'score': 10.21}, {'connected_gene': 'GSG1', 'score': 10.14}, {'connected_gene': 'GC12P013002', 'score': 0.77}, {'connected_gene': 'ENSG00000255621', 'score': 0.44}, {'connected_gene': 'RPS26P46', 'score': 0.37}]