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
ENST00000014930	[[13127797, 13128413], [13140085, 13140266], [13142210, 13142349], [13152970, 13153207]]	[[13128241, 13128413], [13140085, 13140266], [13142210, 13142349], [13152970, 13153048]]
ENST00000540916	[[13128248, 13128413], [13130356, 13130511], [13132397, 13132729]]	None
ENST00000535636	[[13136394, 13136669], [13140085, 13140266], [13142210, 13142214]]	[[13136665, 13136669], [13140085, 13140266], [13142210, 13142214]]
ENST00000536942	[[13138578, 13140266], [13142210, 13142349], [13152970, 13153199]]	[[13140081, 13140266], [13142210, 13142349], [13152970, 13153048]]
NM_015987	[[13127797, 13128413], [13140085, 13140266], [13142210, 13142349], [13152970, 13153243]]	[[13128241, 13128413], [13140085, 13140266], [13142210, 13142349], [13152970, 13153048]]

Promoter

Chrom	Start	End	Description
chr12	13153100	13153111	CAGE_peak_3_at_HEBP1_5end
chr12	13153139	13153231	CAGE_peak_1_at_HEBP1_5end
chr12	13153233	13153244	CAGE_peak_2_at_HEBP1_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	GH12I012998	12998827	13002165	1.9	[{'connected_gene': 'HTR7P1', 'score': 581.74}, {'connected_gene': 'HEBP1', 'score': 566.86}, {'connected_gene': 'ENSG00000255621', 'score': 564.28}, {'connected_gene': 'GC12P013002', 'score': 550.77}]
chr12	GH12I013251	13251275	13252326	0.43	[{'connected_gene': 'MIR614', 'score': 10.01}, {'connected_gene': 'HEBP1', 'score': 6.0}, {'connected_gene': 'GC12M013257', 'score': 0.44}, {'connected_gene': 'GC12M013223', 'score': 0.31}]
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	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	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	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	GH12I012986	12986087	12986276	0.57	[{'connected_gene': 'GPRC5D-AS1', 'score': 10.67}, {'connected_gene': 'GC12P012980', 'score': 0.44}, {'connected_gene': 'HEBP1', 'score': 0.39}, {'connected_gene': 'GC12M012990', 'score': 0.39}]
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	GH12I012997	12997201	12998200	0.38	[{'connected_gene': 'GC12M012990', 'score': 550.77}, {'connected_gene': 'HTR7P1', 'score': 14.09}, {'connected_gene': 'ENSG00000255621', 'score': 8.85}, {'connected_gene': 'HEBP1', 'score': 8.39}, {'connected_gene': 'GC12P012980', 'score': 0.37}]
chr12	GH12I012999	12998644	12998716	0.2	[{'connected_gene': 'ENSG00000255621', 'score': 550.77}, {'connected_gene': 'HTR7P1', 'score': 550.77}, {'connected_gene': 'HEBP1', 'score': 550.77}, {'connected_gene': 'GC12M012990', 'score': 550.77}]
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	GH12I013221	13221158	13224895	1.46	[{'connected_gene': 'GC12P013222', 'score': 550.77}, {'connected_gene': 'DDX47', 'score': 13.7}, {'connected_gene': 'MIR614', 'score': 11.31}, {'connected_gene': 'ENSG00000256011', 'score': 10.61}, {'connected_gene': 'GSG1', 'score': 10.11}, {'connected_gene': 'HEBP1', 'score': 1.93}, {'connected_gene': 'GC12M013223', 'score': 0.77}]
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	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}]