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
ENST00000334344	[[46123447, 46123711], [46123826, 46123920], [46124999, 46125097], [46205200, 46205334], [46211452, 46211671], [46215202, 46215270], [46230371, 46230438], [46230523, 46230774], [46231103, 46231200], [46231280, 46231490], [46233111, 46233279], [46240638, 46240720], [46242618, 46242753], [46243362, 46243559], [46243818, 46246679], [46254583, 46254732], [46285562, 46285701], [46285793, 46285879], [46287202, 46287326], [46287412, 46287504], [46298716, 46301823]]	[[46123619, 46123711], [46123826, 46123920], [46124999, 46125097], [46205200, 46205334], [46211452, 46211671], [46215202, 46215270], [46230371, 46230438], [46230523, 46230774], [46231103, 46231200], [46231280, 46231490], [46233111, 46233279], [46240638, 46240720], [46242618, 46242753], [46243362, 46243559], [46243818, 46246679], [46254583, 46254732], [46285562, 46285701], [46285793, 46285879], [46287202, 46287326], [46287412, 46287504], [46298716, 46298861]]
ENST00000427628	[[46123655, 46123711], [46123826, 46123920], [46124999, 46125097], [46149713, 46149788]]	None
ENST00000426776	[[46123668, 46123711], [46123826, 46123920], [46124999, 46125097], [46169863, 46170112]]	None
ENST00000422737	[[46123698, 46123711], [46123826, 46123920], [46124999, 46125097], [46205200, 46205334], [46211452, 46211671], [46215202, 46215270], [46230371, 46230438], [46230523, 46230774], [46231103, 46231200], [46231280, 46231490], [46233111, 46233279], [46240638, 46240720], [46242618, 46242753], [46243362, 46243559], [46243818, 46246679], [46254583, 46254732], [46285562, 46285701], [46285793, 46285879], [46287202, 46287326], [46287412, 46287701]]	[[46211481, 46211671], [46215202, 46215270], [46230371, 46230438], [46230523, 46230774], [46231103, 46231200], [46231280, 46231490], [46233111, 46233279], [46240638, 46240720], [46242618, 46242753], [46243362, 46243559], [46243818, 46246679], [46254583, 46254732], [46285562, 46285701], [46285793, 46285879], [46287202, 46287326], [46287412, 46287508]]
ENST00000479608	[[46230543, 46230774], [46231103, 46231200], [46231280, 46231490], [46233111, 46233279], [46239772, 46239855], [46240638, 46240720], [46242618, 46242753], [46243362, 46243559], [46243818, 46246679], [46254583, 46254732], [46285562, 46285701], [46285793, 46285879], [46287202, 46287326], [46287412, 46287504], [46298716, 46301823]]	None
ENST00000444670	[[46231177, 46231200], [46231280, 46231490], [46233168, 46233279], [46240638, 46240720], [46242618, 46242753], [46243362, 46243559], [46243818, 46246679], [46254583, 46254732], [46285562, 46285701], [46285793, 46285879], [46287202, 46287326], [46287412, 46287504], [46298716, 46301823]]	[[46231193, 46231200], [46231280, 46231490], [46233168, 46233279], [46240638, 46240720], [46242618, 46242753], [46243362, 46243559], [46243818, 46246679], [46254583, 46254732], [46285562, 46285701], [46285793, 46285879], [46287202, 46287326], [46287412, 46287504], [46298716, 46298861]]
ENST00000457135	[[46246077, 46246679], [46254583, 46254732], [46285562, 46285701], [46285793, 46285879], [46287202, 46287326], [46287412, 46287504], [46298124, 46298181], [46298716, 46301823]]	[[46246082, 46246679], [46254583, 46254732], [46285562, 46285701], [46285793, 46285879], [46287202, 46287326], [46287412, 46287504], [46298124, 46298143]]
ENST00000480128	[[46230727, 46230774], [46231103, 46231200], [46231280, 46231490], [46233111, 46236017]]	None
ENST00000477947	[[46285825, 46285879], [46287202, 46287671]]	None
NM_001347839	[[46123491, 46123711], [46123826, 46123920], [46124999, 46125097], [46205200, 46205334], [46211452, 46211671], [46215202, 46215270], [46230371, 46230438], [46230523, 46230774], [46231103, 46231200], [46231280, 46231490], [46233111, 46233279], [46240638, 46240720], [46242618, 46242753], [46243362, 46243559], [46243818, 46246679], [46254583, 46254732], [46285562, 46285701], [46285793, 46285879], [46287202, 46287326], [46287412, 46287701]]	[[46123619, 46123711], [46123826, 46123920], [46124999, 46125097], [46205200, 46205334], [46211452, 46211671], [46215202, 46215270], [46230371, 46230438], [46230523, 46230774], [46231103, 46231200], [46231280, 46231490], [46233111, 46233279], [46240638, 46240720], [46242618, 46242753], [46243362, 46243559], [46243818, 46246679], [46254583, 46254732], [46285562, 46285701], [46285793, 46285879], [46287202, 46287326], [46287412, 46287508]]
NM_152641	[[46123491, 46123711], [46123826, 46123920], [46124999, 46125097], [46205200, 46205334], [46211452, 46211671], [46215202, 46215270], [46230371, 46230438], [46230523, 46230774], [46231103, 46231200], [46231280, 46231490], [46233111, 46233279], [46240638, 46240720], [46242618, 46242753], [46243362, 46243559], [46243818, 46246679], [46254583, 46254732], [46285562, 46285701], [46285793, 46285879], [46287202, 46287326], [46287412, 46287504], [46298716, 46301823]]	[[46123619, 46123711], [46123826, 46123920], [46124999, 46125097], [46205200, 46205334], [46211452, 46211671], [46215202, 46215270], [46230371, 46230438], [46230523, 46230774], [46231103, 46231200], [46231280, 46231490], [46233111, 46233279], [46240638, 46240720], [46242618, 46242753], [46243362, 46243559], [46243818, 46246679], [46254583, 46254732], [46285562, 46285701], [46285793, 46285879], [46287202, 46287326], [46287412, 46287504], [46298716, 46298861]]

Promoter

Chrom	Start	End	Description
chr12	46123050	46123129	CAGE_peak_2_at_ARID2_5end
chr12	46123273	46123329	CAGE_peak_3_at_ARID2_5end
chr12	46123464	46123512	CAGE_peak_1_at_ARID2_5end
chr12	46123519	46123529	CAGE_peak_4_at_ARID2_5end
chr12	46123682	46123698	CAGE_peak_7_at_ARID2_5end
chr12	46246608	46246632	CAGE_peak_13_at_ARID2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I046158	46158053	46162743	1.31	[{'connected_gene': 'SLC38A1', 'score': 15.79}, {'connected_gene': 'SLC38A2', 'score': 11.12}, {'connected_gene': 'ARID2', 'score': 10.94}, {'connected_gene': 'SLC38A4', 'score': 5.75}, {'connected_gene': 'GC12M046187', 'score': 0.31}, {'connected_gene': 'GC12P046111', 'score': 0.25}]
chr12	GH12I046206	46206224	46223651	1.74	[{'connected_gene': 'SLC38A1', 'score': 22.88}, {'connected_gene': 'LINC00938', 'score': 13.97}, {'connected_gene': 'SLC38A2', 'score': 10.76}, {'connected_gene': 'ARID2', 'score': 8.88}, {'connected_gene': 'ENSG00000257261', 'score': 4.3}, {'connected_gene': 'SCAF11', 'score': 3.9}, {'connected_gene': 'ENSG00000274591', 'score': 0.34}, {'connected_gene': 'GC12M046187', 'score': 0.31}]
chr12	GH12I046263	46263030	46271539	2.53	[{'connected_gene': 'SLC38A1', 'score': 550.77}, {'connected_gene': 'LOC105378248', 'score': 550.77}, {'connected_gene': 'ARID2', 'score': 73.0}, {'connected_gene': 'KNOP1P2', 'score': 63.57}, {'connected_gene': 'SCAF11', 'score': 50.46}, {'connected_gene': 'LOC102723757', 'score': 35.23}, {'connected_gene': 'ENSG00000257261', 'score': 20.45}, {'connected_gene': 'LINC00938', 'score': 13.95}, {'connected_gene': 'SLC38A2', 'score': 10.68}, {'connected_gene': 'ENSG00000274591', 'score': 0.31}]
chr12	GH12I045414	45414614	45416951	1.14	[{'connected_gene': 'LINC00938', 'score': 29.4}, {'connected_gene': 'ARID2', 'score': 11.16}, {'connected_gene': 'ANO6', 'score': 6.95}, {'connected_gene': 'GC12P045397', 'score': 0.37}, {'connected_gene': 'LOC100128248', 'score': 0.31}, {'connected_gene': 'GC12P045311', 'score': 0.15}, {'connected_gene': 'LOC105369743', 'score': 0.1}]
chr12	GH12I045267	45267622	45270692	1.27	[{'connected_gene': 'LINC00938', 'score': 21.42}, {'connected_gene': 'ARID2', 'score': 20.99}, {'connected_gene': 'ENSG00000278351', 'score': 0.39}, {'connected_gene': 'GC12P045286', 'score': 0.37}, {'connected_gene': 'ANO6', 'score': 0.23}]
chr12	GH12I045328	45328181	45331879	0.68	[{'connected_gene': 'ARID2', 'score': 16.84}, {'connected_gene': 'SCAF11', 'score': 13.43}, {'connected_gene': 'KNOP1P2', 'score': 10.95}, {'connected_gene': 'ANO6', 'score': 5.02}, {'connected_gene': 'GC12P045311', 'score': 0.37}, {'connected_gene': 'GC12P045397', 'score': 0.2}]
chr12	GH12I046546	46546506	46564177	1.78	[{'connected_gene': 'ARID2', 'score': 31.75}, {'connected_gene': 'SLC38A2', 'score': 12.93}, {'connected_gene': 'KNOP1P2', 'score': 9.91}, {'connected_gene': 'LINC00938', 'score': 9.75}, {'connected_gene': 'SCAF11', 'score': 9.73}, {'connected_gene': 'ENSG00000257261', 'score': 5.67}, {'connected_gene': 'ENSG00000272369', 'score': 0.37}, {'connected_gene': 'OR7A19P', 'score': 0.28}, {'connected_gene': 'LOC100288798', 'score': 0.09}]
chr12	GH12I045725	45725000	45734366	2.34	[{'connected_gene': 'ARID2', 'score': 578.68}, {'connected_gene': 'GC12M045725', 'score': 550.77}, {'connected_gene': 'LINC00938', 'score': 550.77}, {'connected_gene': 'KNOP1P2', 'score': 20.29}, {'connected_gene': 'LOC102723757', 'score': 12.6}, {'connected_gene': 'SCAF11', 'score': 10.76}, {'connected_gene': 'ENSG00000278475', 'score': 0.22}, {'connected_gene': 'GC12P045311', 'score': 0.05}]
chr12	GH12I046376	46376384	46381263	0.89	[{'connected_gene': 'ARID2', 'score': 70.21}, {'connected_gene': 'KNOP1P2', 'score': 35.5}, {'connected_gene': 'SCAF11', 'score': 33.68}, {'connected_gene': 'SLC38A2', 'score': 12.54}, {'connected_gene': 'LOC102723757', 'score': 11.12}, {'connected_gene': 'LINC00938', 'score': 9.74}, {'connected_gene': 'ENSG00000257261', 'score': 8.61}, {'connected_gene': 'LOC100288798', 'score': 0.77}]
chr12	GH12I045335	45335824	45337791	0.97	[{'connected_gene': 'ARID2', 'score': 18.55}, {'connected_gene': 'KNOP1P2', 'score': 17.2}, {'connected_gene': 'SCAF11', 'score': 14.38}, {'connected_gene': 'GC12P045311', 'score': 0.31}, {'connected_gene': 'GC12P045397', 'score': 0.21}, {'connected_gene': 'ANO6', 'score': 0.13}]
chr12	GH12I045878	45878387	45880174	1.24	[{'connected_gene': 'ARID2', 'score': 15.16}, {'connected_gene': 'KNOP1P2', 'score': 10.68}, {'connected_gene': 'SLC38A1', 'score': 2.5}, {'connected_gene': 'SCAF11', 'score': 2.21}, {'connected_gene': 'RN7SL246P', 'score': 0.44}]
chr12	GH12I044948	44948798	44948947	1.03	[{'connected_gene': 'ARID2', 'score': 30.41}, {'connected_gene': 'KNOP1P2', 'score': 28.0}, {'connected_gene': 'NELL2', 'score': 0.31}, {'connected_gene': 'GC12M044982', 'score': 0.26}]
chr12	GH12I045734	45734711	45736121	0.43	[{'connected_gene': 'ARID2', 'score': 0.44}, {'connected_gene': 'ENSG00000278475', 'score': 0.23}, {'connected_gene': 'GC12P045311', 'score': 0.05}]
chr12	GH12I045736	45736339	45739161	0.38	[{'connected_gene': 'ARID2', 'score': 0.44}, {'connected_gene': 'ENSG00000278475', 'score': 0.23}, {'connected_gene': 'GC12P045311', 'score': 0.04}]
chr12	GH12I045214	45214504	45221591	2.47	[{'connected_gene': 'ANO6', 'score': 550.77}, {'connected_gene': 'KNOP1P2', 'score': 16.03}, {'connected_gene': 'ARID2', 'score': 14.13}, {'connected_gene': 'SCAF11', 'score': 13.68}, {'connected_gene': 'PLEKHA8P1', 'score': 0.77}, {'connected_gene': 'ENSG00000278351', 'score': 0.28}]
chr12	GH12I046364	46364082	46375085	2.52	[{'connected_gene': 'LOC102723757', 'score': 560.89}, {'connected_gene': 'SLC38A2', 'score': 550.77}, {'connected_gene': 'ARID2', 'score': 62.69}, {'connected_gene': 'KNOP1P2', 'score': 43.15}, {'connected_gene': 'SCAF11', 'score': 35.79}, {'connected_gene': 'LINC00938', 'score': 18.72}, {'connected_gene': 'SLC38A1', 'score': 10.78}, {'connected_gene': 'ENSG00000257261', 'score': 8.92}, {'connected_gene': 'GC12P046358', 'score': 0.39}]
chr12	GH12I046657	46657845	46666390	1.74	[{'connected_gene': 'PIR60015', 'score': 550.77}, {'connected_gene': 'ARID2', 'score': 11.6}, {'connected_gene': 'SLC38A2', 'score': 1.86}, {'connected_gene': 'OR7A19P', 'score': 0.2}, {'connected_gene': 'ENSG00000257261', 'score': 0.06}]
chr12	GH12I045774	45774801	45775200	0.2	[{'connected_gene': 'ENSG00000278475', 'score': 0.39}, {'connected_gene': 'ARID2', 'score': 0.25}, {'connected_gene': 'GC12P045311', 'score': 0.04}]
chr12	GH12I045906	45906075	45906553	0.51	[{'connected_gene': 'GC12M045894', 'score': 0.44}, {'connected_gene': 'GC12P045991', 'score': 0.18}, {'connected_gene': 'ARID2', 'score': 0.1}]
chr12	GH12I045905	45905712	45905923	0.4	[{'connected_gene': 'GC12M045894', 'score': 0.44}, {'connected_gene': 'GC12P045991', 'score': 0.17}, {'connected_gene': 'ARID2', 'score': 0.1}]
chr12	GH12I046382	46382242	46393407	2.28	[{'connected_gene': 'ENSG00000257496', 'score': 550.77}, {'connected_gene': 'ENSG00000275481', 'score': 550.77}, {'connected_gene': 'KNOP1P2', 'score': 16.03}, {'connected_gene': 'ARID2', 'score': 14.13}, {'connected_gene': 'SCAF11', 'score': 13.7}, {'connected_gene': 'LINC00938', 'score': 10.68}, {'connected_gene': 'LOC102723757', 'score': 10.29}, {'connected_gene': 'SLC38A2', 'score': 10.1}, {'connected_gene': 'ENSG00000257261', 'score': 8.88}, {'connected_gene': 'LOC100288798', 'score': 0.77}]