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

Promoter

Chrom	Start	End	Description
chr3	139000423	139000454	CAGE_peak_3_at_MRPS22_5end
chr3	139000473	139000487	CAGE_peak_8_at_MRPS22_5end
chr3	139000551	139000584	CAGE_peak_4_at_MRPS22_5end
chr3	139062838	139062870	CAGE_peak_1_at_MRPS22_5end
chr3	139063372	139063403	CAGE_peak_2_at_MRPS22_5end
chr3	139063416	139063437	CAGE_peak_5_at_MRPS22_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I139006	139006352	139006411	0.61	[{'connected_gene': 'PRR23A', 'score': 550.77}, {'connected_gene': 'MRPS22', 'score': 550.77}, {'connected_gene': 'GC03M138992', 'score': 550.77}]
chr3	GH03I139187	139187849	139187988	0.55	[{'connected_gene': 'PRR23A', 'score': 5.65}, {'connected_gene': 'PRR23B', 'score': 4.05}, {'connected_gene': 'PRR23C', 'score': 3.92}, {'connected_gene': 'PIR44511', 'score': 0.39}, {'connected_gene': 'GC03M139047', 'score': 0.26}, {'connected_gene': 'MRPS22', 'score': 0.09}]
chr3	GH03I139117	139117200	139117408	0.79	[{'connected_gene': 'BPESC1', 'score': 0.39}, {'connected_gene': 'GC03M139047', 'score': 0.31}, {'connected_gene': 'MRPS22', 'score': 0.14}]
chr3	GH03I139111	139111959	139112088	0.69	[{'connected_gene': 'BPESC1', 'score': 4.54}, {'connected_gene': 'GC03M139047', 'score': 0.29}, {'connected_gene': 'MRPS22', 'score': 0.14}]
chr3	GH03I139118	139118713	139122978	1.33	[{'connected_gene': 'BPESC1', 'score': 6.91}, {'connected_gene': 'ARMC8', 'score': 5.21}, {'connected_gene': 'GC03M139047', 'score': 0.31}, {'connected_gene': 'MRPS22', 'score': 0.13}]
chr3	GH03I139531	139531274	139541929	2.34	[{'connected_gene': 'RBP1', 'score': 563.55}, {'connected_gene': 'COPB2', 'score': 19.45}, {'connected_gene': 'ENSG00000272656', 'score': 10.64}, {'connected_gene': 'LOC100507291', 'score': 9.75}, {'connected_gene': 'MRPS22', 'score': 4.1}, {'connected_gene': 'GC03M139507', 'score': 0.34}]
chr3	GH03I139343	139343379	139345436	2.01	[{'connected_gene': 'MRPS22', 'score': 555.87}, {'connected_gene': 'ENSG00000214280', 'score': 19.04}, {'connected_gene': 'CEP70', 'score': 18.46}, {'connected_gene': 'LOC100507291', 'score': 11.09}, {'connected_gene': 'COPB2', 'score': 11.09}, {'connected_gene': 'ENSG00000272656', 'score': 0.77}, {'connected_gene': 'PIR46128', 'score': 0.18}]
chr3	GH03I139468	139468393	139469463	0.4	[{'connected_gene': 'MRPS22', 'score': 5.5}, {'connected_gene': 'ACTG1P1', 'score': 4.79}, {'connected_gene': 'ENSG00000272656', 'score': 4.69}, {'connected_gene': 'ENSG00000248790', 'score': 0.77}, {'connected_gene': 'PIR34695', 'score': 0.77}, {'connected_gene': 'RBP2', 'score': 0.39}, {'connected_gene': 'LOC100507291', 'score': 0.18}]
chr3	GH03I138956	138955735	138955938	0.2	[{'connected_gene': 'FAIM', 'score': 9.67}, {'connected_gene': 'FOXL2NB', 'score': 0.44}, {'connected_gene': 'MRPS22', 'score': 0.25}]
chr3	GH03I138955	138955062	138955450	0.2	[{'connected_gene': 'FAIM', 'score': 9.67}, {'connected_gene': 'FOXL2NB', 'score': 0.44}, {'connected_gene': 'MRPS22', 'score': 0.23}]
chr3	GH03I138860	138860777	138864579	1.73	[{'connected_gene': 'DBR1', 'score': 10.5}, {'connected_gene': 'COPB2', 'score': 10.28}, {'connected_gene': 'PIK3CB', 'score': 8.62}, {'connected_gene': 'FAIM', 'score': 8.15}, {'connected_gene': 'A4GNT', 'score': 4.47}, {'connected_gene': 'MRPS22', 'score': 2.34}, {'connected_gene': 'ATP5MC1P3', 'score': 0.31}]
chr3	GH03I139297	139297238	139304799	1.67	[{'connected_gene': 'FOXL2NB', 'score': 1.91}, {'connected_gene': 'FOXL2', 'score': 1.76}, {'connected_gene': 'PIR46128', 'score': 0.29}, {'connected_gene': 'ENSG00000272656', 'score': 0.25}, {'connected_gene': 'MRPS22', 'score': 0.06}]
chr3	GH03I138952	138952211	138952410	0.31	[{'connected_gene': 'FOXL2NB', 'score': 0.44}, {'connected_gene': 'MRPS22', 'score': 0.23}]
chr3	GH03I138948	138948722	138949648	0.72	[{'connected_gene': 'FOXL2NB', 'score': 550.77}, {'connected_gene': 'MRPS22', 'score': 0.22}]
chr3	GH03I138960	138960299	138960568	0.31	[{'connected_gene': 'FOXL2NB', 'score': 0.39}, {'connected_gene': 'MRPS22', 'score': 0.25}]
chr3	GH03I138950	138950219	138950368	0.63	[{'connected_gene': 'FOXL2NB', 'score': 0.77}, {'connected_gene': 'MRPS22', 'score': 0.22}]
chr3	GH03I139020	139020997	139021056	0.73	[{'connected_gene': 'PRR23B', 'score': 550.77}, {'connected_gene': 'MRPS22', 'score': 0.37}, {'connected_gene': 'PRR23C', 'score': 0.34}]
chr3	GH03I139471	139471681	139478623	1.36	[{'connected_gene': 'RBP2', 'score': 550.44}, {'connected_gene': 'ENSG00000272656', 'score': 16.93}, {'connected_gene': 'ACTG1P1', 'score': 11.55}, {'connected_gene': 'MRPS22', 'score': 5.06}, {'connected_gene': 'PIR34695', 'score': 0.77}, {'connected_gene': 'LOC100507291', 'score': 0.17}]
chr3	GH03I139354	139354059	139354208	0.63	[{'connected_gene': 'LOC100507291', 'score': 11.21}, {'connected_gene': 'COPB2', 'score': 11.21}, {'connected_gene': 'ACTG1P1', 'score': 5.0}, {'connected_gene': 'ENSG00000272656', 'score': 0.77}, {'connected_gene': 'ENSG00000283418', 'score': 0.29}, {'connected_gene': 'MRPS22', 'score': 0.05}]
chr3	GH03I139388	139388036	139391197	2.04	[{'connected_gene': 'LOC100507291', 'score': 550.77}, {'connected_gene': 'COPB2', 'score': 550.77}, {'connected_gene': 'ENSG00000283418', 'score': 550.77}, {'connected_gene': 'ENSG00000272656', 'score': 17.69}, {'connected_gene': 'MRPS22', 'score': 5.87}, {'connected_gene': 'RBP1', 'score': 4.66}]
chr3	GH03I139338	139338422	139341057	0.92	[{'connected_gene': 'ENSG00000272656', 'score': 16.85}, {'connected_gene': 'COPB2', 'score': 11.02}, {'connected_gene': 'LOC100507291', 'score': 11.0}, {'connected_gene': 'MRPS22', 'score': 5.54}, {'connected_gene': 'RBP1', 'score': 4.64}, {'connected_gene': 'PIR46128', 'score': 0.19}]
chr3	GH03I139291	139291708	139294474	0.99	[{'connected_gene': 'ENSG00000214280', 'score': 14.88}, {'connected_gene': 'CEP70', 'score': 11.62}, {'connected_gene': 'PIR46128', 'score': 0.31}, {'connected_gene': 'ENSG00000272656', 'score': 0.22}, {'connected_gene': 'MRPS22', 'score': 0.06}]
chr3	GH03I139127	139127199	139127488	0.69	[{'connected_gene': 'GC03M139047', 'score': 0.37}, {'connected_gene': 'BPESC1', 'score': 0.34}, {'connected_gene': 'MRPS22', 'score': 0.13}]
chr3	GH03I139464	139464569	139466457	0.2	[{'connected_gene': 'ENSG00000248790', 'score': 550.77}, {'connected_gene': 'MRPS22', 'score': 5.5}, {'connected_gene': 'PIR38286', 'score': 0.37}, {'connected_gene': 'RBP2', 'score': 0.37}, {'connected_gene': 'LOC100507291', 'score': 0.18}]
chr3	GH03I139434	139434069	139435891	0.97	[{'connected_gene': 'ENSG00000272656', 'score': 16.62}, {'connected_gene': 'MRPS22', 'score': 5.5}, {'connected_gene': 'PIR39853', 'score': 0.44}, {'connected_gene': 'LOC100507291', 'score': 0.25}]
chr3	GH03I139228	139228746	139228936	0.2	[{'connected_gene': 'ENSG00000276304', 'score': 0.77}, {'connected_gene': 'PIR44511', 'score': 0.29}, {'connected_gene': 'MRPS22', 'score': 0.07}]
chr3	GH03I139286	139286079	139286773	0.2	[{'connected_gene': 'PIR46128', 'score': 0.37}, {'connected_gene': 'ENSG00000272656', 'score': 0.21}, {'connected_gene': 'MRPS22', 'score': 0.06}]
chr3	GH03I139222	139222119	139222268	1.12	[{'connected_gene': 'ENSG00000276304', 'score': 0.39}, {'connected_gene': 'PIR44511', 'score': 0.34}, {'connected_gene': 'MRPS22', 'score': 0.08}]
chr3	GH03I139229	139228516	139228737	0.2	[{'connected_gene': 'ENSG00000276304', 'score': 0.77}, {'connected_gene': 'PIR44511', 'score': 0.29}, {'connected_gene': 'MRPS22', 'score': 0.07}]
chr3	GH03I139288	139288244	139289144	1.06	[{'connected_gene': 'PIR46128', 'score': 0.34}, {'connected_gene': 'ENSG00000272656', 'score': 0.21}, {'connected_gene': 'MRPS22', 'score': 0.06}]
chr3	GH03I139230	139230440	139230663	0.58	[{'connected_gene': 'ENSG00000276304', 'score': 0.77}, {'connected_gene': 'PIR44511', 'score': 0.29}, {'connected_gene': 'MRPS22', 'score': 0.07}]
chr3	GH03I139223	139221019	139221274	0.2	[{'connected_gene': 'ENSG00000276304', 'score': 0.39}, {'connected_gene': 'PIR44511', 'score': 0.34}, {'connected_gene': 'MRPS22', 'score': 0.08}]
chr3	GH03I139280	139280379	139283015	0.77	[{'connected_gene': 'PIR46128', 'score': 0.37}, {'connected_gene': 'ENSG00000272656', 'score': 0.2}, {'connected_gene': 'MRPS22', 'score': 0.06}]
chr3	GH03I139305	139305771	139314744	1.55	[{'connected_gene': 'ENSG00000272656', 'score': 0.28}, {'connected_gene': 'PIR46128', 'score': 0.26}, {'connected_gene': 'MRPS22', 'score': 0.06}]
chr3	GH03I139226	139226748	139227448	0.63	[{'connected_gene': 'ENSG00000276304', 'score': 0.44}, {'connected_gene': 'PIR44511', 'score': 0.31}, {'connected_gene': 'MRPS22', 'score': 0.07}]
chr3	GH03I139319	139319879	139320028	0.8	[{'connected_gene': 'ENSG00000272656', 'score': 0.31}, {'connected_gene': 'PIR46128', 'score': 0.23}, {'connected_gene': 'MRPS22', 'score': 0.06}]
chr3	GH03I139329	139329177	139329800	1.39	[{'connected_gene': 'ENSG00000272656', 'score': 0.37}, {'connected_gene': 'PIR46128', 'score': 0.21}, {'connected_gene': 'MRPS22', 'score': 0.05}]
chr3	GH03I139217	139217280	139217933	0.31	[{'connected_gene': 'ENSG00000276304', 'score': 0.37}, {'connected_gene': 'PIR44511', 'score': 0.37}, {'connected_gene': 'MRPS22', 'score': 0.08}]
chr3	GH03I139218	139218219	139218454	0.2	[{'connected_gene': 'ENSG00000276304', 'score': 0.37}, {'connected_gene': 'PIR44511', 'score': 0.37}, {'connected_gene': 'MRPS22', 'score': 0.08}]
chr3	GH03I139231	139225152	139225770	0.38	[{'connected_gene': 'ENSG00000276304', 'score': 0.44}, {'connected_gene': 'PIR44511', 'score': 0.31}, {'connected_gene': 'MRPS22', 'score': 0.08}]
chr3	GH03I139225	139225777	139226200	0.2	[{'connected_gene': 'ENSG00000276304', 'score': 0.44}, {'connected_gene': 'PIR44511', 'score': 0.31}, {'connected_gene': 'MRPS22', 'score': 0.07}]
chr3	GH03I139173	139173273	139174506	0.69	[{'connected_gene': 'PIR44511', 'score': 0.34}, {'connected_gene': 'GC03M139047', 'score': 0.31}, {'connected_gene': 'MRPS22', 'score': 0.1}]
chr3	GH03I139284	139284189	139284528	0.4	[{'connected_gene': 'PIR46128', 'score': 0.37}, {'connected_gene': 'ENSG00000272656', 'score': 0.2}, {'connected_gene': 'MRPS22', 'score': 0.06}]
chr3	GH03I139221	139221408	139221667	0.43	[{'connected_gene': 'ENSG00000276304', 'score': 0.39}, {'connected_gene': 'PIR44511', 'score': 0.34}, {'connected_gene': 'MRPS22', 'score': 0.08}]
chr3	GH03I139290	139290889	139291571	0.2	[{'connected_gene': 'PIR46128', 'score': 0.34}, {'connected_gene': 'ENSG00000272656', 'score': 0.22}, {'connected_gene': 'MRPS22', 'score': 0.06}]
chr3	GH03I139227	139227852	139228222	0.31	[{'connected_gene': 'ENSG00000276304', 'score': 0.44}, {'connected_gene': 'PIR44511', 'score': 0.31}, {'connected_gene': 'MRPS22', 'score': 0.07}]
chr3	GH03I139202	139202201	139202601	0.98	[{'connected_gene': 'PIR44511', 'score': 0.77}, {'connected_gene': 'ENSG00000276304', 'score': 0.29}, {'connected_gene': 'MRPS22', 'score': 0.08}]
chr3	GH03I139237	139237210	139238125	0.46	[{'connected_gene': 'GC03M139233', 'score': 0.77}, {'connected_gene': 'PISRT1', 'score': 0.77}, {'connected_gene': 'PIR46128', 'score': 0.31}, {'connected_gene': 'MRPS22', 'score': 0.07}]
chr3	GH03I139234	139234099	139235336	0.69	[{'connected_gene': 'ENSG00000276304', 'score': 550.77}, {'connected_gene': 'GC03M139233', 'score': 550.77}, {'connected_gene': 'PISRT1', 'score': 550.77}, {'connected_gene': 'PIR46128', 'score': 0.29}, {'connected_gene': 'MRPS22', 'score': 0.07}]
chr3	GH03I139232	139232899	139233303	0.2	[{'connected_gene': 'ENSG00000276304', 'score': 550.77}, {'connected_gene': 'GC03M139233', 'score': 550.77}, {'connected_gene': 'PISRT1', 'score': 550.77}, {'connected_gene': 'PIR44511', 'score': 0.29}, {'connected_gene': 'MRPS22', 'score': 0.07}]
chr3	GH03I139250	139250857	139251574	0.6	[{'connected_gene': 'PIR46128', 'score': 0.37}, {'connected_gene': 'GC03M139233', 'score': 0.37}, {'connected_gene': 'PISRT1', 'score': 0.37}, {'connected_gene': 'MRPS22', 'score': 0.07}]
chr3	GH03I139260	139260252	139260469	0.38	[{'connected_gene': 'PIR46128', 'score': 0.44}, {'connected_gene': 'GC03M139233', 'score': 0.31}, {'connected_gene': 'PISRT1', 'score': 0.31}, {'connected_gene': 'MRPS22', 'score': 0.07}]
chr3	GH03I139240	139240037	139240262	0.2	[{'connected_gene': 'GC03M139233', 'score': 0.44}, {'connected_gene': 'PISRT1', 'score': 0.44}, {'connected_gene': 'PIR46128', 'score': 0.31}, {'connected_gene': 'MRPS22', 'score': 0.07}]
chr3	GH03I139233	139233537	139233847	0.2	[{'connected_gene': 'ENSG00000276304', 'score': 550.77}, {'connected_gene': 'GC03M139233', 'score': 550.77}, {'connected_gene': 'PISRT1', 'score': 550.77}, {'connected_gene': 'PIR46128', 'score': 0.29}, {'connected_gene': 'MRPS22', 'score': 0.07}]
chr3	GH03I139241	139241633	139241943	0.2	[{'connected_gene': 'GC03M139233', 'score': 0.44}, {'connected_gene': 'PISRT1', 'score': 0.44}, {'connected_gene': 'PIR46128', 'score': 0.34}, {'connected_gene': 'MRPS22', 'score': 0.07}]
chr3	GH03I139238	139238297	139238989	0.51	[{'connected_gene': 'GC03M139233', 'score': 0.44}, {'connected_gene': 'PISRT1', 'score': 0.44}, {'connected_gene': 'PIR46128', 'score': 0.31}, {'connected_gene': 'MRPS22', 'score': 0.07}]
chr3	GH03I139235	139235952	139236245	0.2	[{'connected_gene': 'GC03M139233', 'score': 0.77}, {'connected_gene': 'PISRT1', 'score': 0.77}, {'connected_gene': 'PIR46128', 'score': 0.29}, {'connected_gene': 'MRPS22', 'score': 0.07}]
chr3	GH03I139236	139236309	139236517	0.2	[{'connected_gene': 'GC03M139233', 'score': 0.77}, {'connected_gene': 'PISRT1', 'score': 0.77}, {'connected_gene': 'PIR46128', 'score': 0.29}, {'connected_gene': 'MRPS22', 'score': 0.07}]
chr3	GH03I139248	139248425	139248904	0.2	[{'connected_gene': 'PIR46128', 'score': 0.37}, {'connected_gene': 'GC03M139233', 'score': 0.37}, {'connected_gene': 'PISRT1', 'score': 0.37}, {'connected_gene': 'MRPS22', 'score': 0.07}]
chr3	GH03I139239	139239079	139239228	0.2	[{'connected_gene': 'GC03M139233', 'score': 0.44}, {'connected_gene': 'PISRT1', 'score': 0.44}, {'connected_gene': 'PIR46128', 'score': 0.31}, {'connected_gene': 'MRPS22', 'score': 0.07}]
chr3	GH03I139243	139243199	139243408	0.2	[{'connected_gene': 'GC03M139233', 'score': 0.44}, {'connected_gene': 'PISRT1', 'score': 0.44}, {'connected_gene': 'PIR46128', 'score': 0.34}, {'connected_gene': 'MRPS22', 'score': 0.07}]
chr3	GH03I139242	139241191	139241458	0.2	[{'connected_gene': 'GC03M139233', 'score': 0.44}, {'connected_gene': 'PISRT1', 'score': 0.44}, {'connected_gene': 'PIR46128', 'score': 0.31}, {'connected_gene': 'MRPS22', 'score': 0.07}]
chr3	GH03I139251	139251587	139253535	0.65	[{'connected_gene': 'PIR46128', 'score': 0.39}, {'connected_gene': 'GC03M139233', 'score': 0.37}, {'connected_gene': 'PISRT1', 'score': 0.37}, {'connected_gene': 'MRPS22', 'score': 0.07}]
chr3	GH03I139345	139345443	139345710	0.45	[{'connected_gene': 'ENSG00000272656', 'score': 17.73}, {'connected_gene': 'LOC100507291', 'score': 11.07}, {'connected_gene': 'COPB2', 'score': 11.07}, {'connected_gene': 'MRPS22', 'score': 5.87}, {'connected_gene': 'PIR46128', 'score': 0.18}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000495075	[[138724647, 138724937], [138899131, 138899202], [139062797, 139063040], [139065719, 139065886], [139067001, 139067166], [139069020, 139069164], [139069818, 139069902], [139071488, 139071634], [139074523, 139074632], [139075760, 139075888]]	[[139062868, 139063040], [139065719, 139065886], [139067001, 139067166], [139069020, 139069164], [139069818, 139069902], [139071488, 139071634], [139074523, 139074632], [139075760, 139075856]]
ENST00000495225	[[138829245, 138829417], [138881162, 138881268], [138881871, 138882052], [139065719, 139065792]]	[[138881970, 138882052], [139065719, 139065792]]
ENST00000310776	[[139062860, 139063040], [139065719, 139065886], [139067001, 139067166], [139069020, 139069164], [139069818, 139069902], [139071488, 139071634], [139074523, 139074632], [139075760, 139075885]]	[[139062868, 139063040], [139065719, 139065886], [139067001, 139067166], [139069020, 139069164], [139069818, 139069902], [139071488, 139071634], [139074523, 139074632], [139075760, 139075856]]
ENST00000498505	[[139062863, 139063040], [139065722, 139065886], [139067001, 139067166], [139068169, 139068276], [139069020, 139069164], [139069818, 139069902], [139071488, 139071634], [139074523, 139074632], [139075760, 139076065]]	[[139062868, 139063040], [139065722, 139065886], [139067001, 139067166], [139068169, 139068175]]
ENST00000465056	[[139062868, 139063040], [139065722, 139065886], [139067001, 139067166], [139069020, 139069164], [139069818, 139069902], [139071488, 139071634], [139074523, 139074632], [139075760, 139075875]]	[[139062868, 139063040], [139065722, 139065886], [139067001, 139067166], [139069020, 139069164], [139069818, 139069902], [139071488, 139071634], [139074523, 139074632], [139075760, 139075856]]
ENST00000480938	[[139062868, 139063040], [139065719, 139065886], [139067001, 139067166], [139069020, 139069902], [139071488, 139071634], [139074523, 139074632], [139075760, 139075893]]	None
ENST00000465373	[[139062880, 139063040], [139065692, 139065886], [139067001, 139067166], [139069020, 139069101]]	[[139062880, 139063040], [139065692, 139065886], [139067001, 139067166], [139069020, 139069101]]
ENST00000466690	[[139062882, 139063040], [139065719, 139065886], [139067001, 139067166], [139068169, 139068276], [139069020, 139069164], [139069818, 139069904]]	[[139062882, 139063040], [139065719, 139065886], [139067001, 139067166], [139068169, 139068175]]
ENST00000478464	[[139063406, 139063560], [139065719, 139065886], [139067001, 139067166], [139069020, 139069164], [139069818, 139069902], [139071488, 139071634], [139074523, 139074632], [139075760, 139075856]]	[[139063511, 139063560], [139065719, 139065886], [139067001, 139067166], [139069020, 139069164], [139069818, 139069902], [139071488, 139071634], [139074523, 139074632], [139075760, 139075856]]
ENST00000483545	[[139065807, 139065886], [139067001, 139067166], [139069020, 139069164], [139069818, 139069998]]	None
ENST00000480644	[[139067123, 139067166], [139069020, 139069164], [139069872, 139069902], [139071488, 139071634]]	[[139067123, 139067166], [139069020, 139069164], [139069872, 139069902], [139071488, 139071634]]
ENST00000489521	[[139000555, 139000677], [139001372, 139001738], [139062797, 139062865]]	None
ENST00000486705	[[139062957, 139063040], [139065719, 139065886], [139067001, 139067349]]	None
ENST00000492644	[[139069711, 139071634], [139074523, 139074632], [139075760, 139075888]]	None
NM_020191	[[139062860, 139063040], [139065719, 139065886], [139067001, 139067166], [139069020, 139069164], [139069818, 139069902], [139071488, 139071634], [139074523, 139074632], [139075760, 139075888]]	[[139062868, 139063040], [139065719, 139065886], [139067001, 139067166], [139069020, 139069164], [139069818, 139069902], [139071488, 139071634], [139074523, 139074632], [139075760, 139075856]]