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
ENST00000256079	[[30781921, 30783891], [30784828, 30784945], [30787016, 30787220], [30789915, 30790121], [30792448, 30792669], [30802070, 30802166], [30805125, 30805223], [30805900, 30806026], [30809617, 30809684], [30814074, 30814200], [30815260, 30815421], [30816422, 30816588], [30818153, 30818243], [30818662, 30818779], [30819108, 30819185], [30822116, 30822216], [30823895, 30824030], [30826923, 30827008], [30827592, 30827687], [30829431, 30829521], [30833415, 30833572], [30834592, 30834751], [30837234, 30837391], [30843429, 30843511], [30848497, 30848920]]	[[30783793, 30783891], [30784828, 30784945], [30787016, 30787220], [30789915, 30790121], [30792448, 30792669], [30802070, 30802166], [30805125, 30805223], [30805900, 30806026], [30809617, 30809684], [30814074, 30814200], [30815260, 30815421], [30816422, 30816588], [30818153, 30818243], [30818662, 30818779], [30819108, 30819185], [30822116, 30822216], [30823895, 30824030], [30826923, 30827008], [30827592, 30827687], [30829431, 30829521], [30833415, 30833572], [30834592, 30834751], [30837234, 30837391], [30843429, 30843511], [30848497, 30848581]]
ENST00000544829	[[30783405, 30783891], [30784828, 30784945], [30787016, 30787220], [30789915, 30790121], [30792448, 30792669], [30802070, 30802166], [30805125, 30805223], [30805900, 30806026], [30809617, 30809684], [30814074, 30814200], [30815260, 30815421], [30816422, 30816588], [30818153, 30818243], [30818662, 30818779], [30819108, 30819185], [30822116, 30822216], [30823895, 30824030], [30826923, 30827008], [30827592, 30827687], [30829431, 30829521], [30829829, 30830178]]	[[30783793, 30783891], [30784828, 30784945], [30787016, 30787220], [30789915, 30790121], [30792448, 30792669], [30802070, 30802166], [30805125, 30805223], [30805900, 30806026], [30809617, 30809684], [30814074, 30814200], [30815260, 30815421], [30816422, 30816588], [30818153, 30818243], [30818662, 30818779], [30819108, 30819185], [30822116, 30822216], [30823895, 30824030], [30826923, 30827008], [30827592, 30827687], [30829431, 30829521], [30829829, 30829853]]
ENST00000535598	[[30784559, 30784945], [30787016, 30787220], [30789915, 30790083]]	[[30784814, 30784945], [30787016, 30787220], [30789915, 30790083]]
ENST00000542464	[[30822201, 30822216], [30823895, 30824030], [30826923, 30827008], [30827592, 30827687], [30829431, 30829521], [30829979, 30830094]]	[[30822201, 30822216], [30823895, 30824030], [30826923, 30827008], [30827592, 30827687], [30829431, 30829521], [30829979, 30830060]]
ENST00000535989	[[30833415, 30833572], [30834592, 30834751], [30837234, 30837391], [30841626, 30841690]]	[[30833415, 30833572], [30834592, 30834751], [30837234, 30837371]]
ENST00000540979	[[30833455, 30833572], [30834592, 30834751], [30837234, 30837391], [30843429, 30843482], [30848497, 30848803]]	[[30843458, 30843482], [30848497, 30848581]]
ENST00000543446	[[30837234, 30837391], [30841293, 30841680]]	[[30837234, 30837391], [30841293, 30841390]]
ENST00000358724	[[30837270, 30837391], [30839254, 30839593], [30841626, 30841692]]	[[30837270, 30837371]]
ENST00000545077	[[30837368, 30837391], [30843429, 30843511], [30847911, 30848045]]	[[30837368, 30837391], [30843429, 30843511], [30847911, 30847944]]
ENST00000538338	[[30839457, 30839593], [30841293, 30841693]]	None
NM_001190995	[[30781914, 30783891], [30784828, 30784945], [30787016, 30787220], [30789915, 30790121], [30792448, 30792669], [30802070, 30802166], [30805125, 30805223], [30805900, 30806026], [30809617, 30809684], [30814074, 30814200], [30815260, 30815421], [30816422, 30816588], [30818153, 30818243], [30818662, 30818779], [30819108, 30819185], [30822116, 30822216], [30823895, 30824030], [30826923, 30827008], [30827592, 30827687], [30829431, 30829521], [30829829, 30830178]]	[[30783793, 30783891], [30784828, 30784945], [30787016, 30787220], [30789915, 30790121], [30792448, 30792669], [30802070, 30802166], [30805125, 30805223], [30805900, 30806026], [30809617, 30809684], [30814074, 30814200], [30815260, 30815421], [30816422, 30816588], [30818153, 30818243], [30818662, 30818779], [30819108, 30819185], [30822116, 30822216], [30823895, 30824030], [30826923, 30827008], [30827592, 30827687], [30829431, 30829521], [30829829, 30829853]]
NM_006390	[[30781914, 30783891], [30784828, 30784945], [30787016, 30787220], [30789915, 30790121], [30792448, 30792669], [30802070, 30802166], [30805125, 30805223], [30805900, 30806026], [30809617, 30809684], [30814074, 30814200], [30815260, 30815421], [30816422, 30816588], [30818153, 30818243], [30818662, 30818779], [30819108, 30819185], [30822116, 30822216], [30823895, 30824030], [30826923, 30827008], [30827592, 30827687], [30829431, 30829521], [30833415, 30833572], [30834592, 30834751], [30837234, 30837391], [30843429, 30843511], [30848497, 30848929]]	[[30783793, 30783891], [30784828, 30784945], [30787016, 30787220], [30789915, 30790121], [30792448, 30792669], [30802070, 30802166], [30805125, 30805223], [30805900, 30806026], [30809617, 30809684], [30814074, 30814200], [30815260, 30815421], [30816422, 30816588], [30818153, 30818243], [30818662, 30818779], [30819108, 30819185], [30822116, 30822216], [30823895, 30824030], [30826923, 30827008], [30827592, 30827687], [30829431, 30829521], [30833415, 30833572], [30834592, 30834751], [30837234, 30837391], [30843429, 30843511], [30848497, 30848581]]

Promoter

Chrom	Start	End	Description
chr12	30848733	30848745	CAGE_peak_2_at_IPO8_5end
chr12	30848787	30848842	CAGE_peak_1_at_IPO8_5end
chr12	30848914	30848948	CAGE_peak_4_at_IPO8_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I030753	30753387	30756296	2.07	[{'connected_gene': 'CAPRIN2', 'score': 567.34}, {'connected_gene': 'LOC645485', 'score': 559.75}, {'connected_gene': 'IPO8', 'score': 6.23}]
chr12	GH12I030719	30719039	30719916	0.31	[{'connected_gene': 'CAPRIN2', 'score': 14.58}, {'connected_gene': 'IPO8', 'score': 11.39}, {'connected_gene': 'LOC645485', 'score': 0.28}]
chr12	GH12I030850	30850691	30852273	1.18	[{'connected_gene': 'CAPRIN2', 'score': 14.23}, {'connected_gene': 'IPO8', 'score': 12.71}, {'connected_gene': 'DDX11-AS1', 'score': 10.08}, {'connected_gene': 'DDX11', 'score': 9.83}, {'connected_gene': 'GC12M030845', 'score': 0.77}, {'connected_gene': 'PPIAP44', 'score': 0.39}, {'connected_gene': 'GC12P030799', 'score': 0.23}]
chr12	GH12I031316	31316650	31327460	2.49	[{'connected_gene': 'SINHCAF', 'score': 573.1}, {'connected_gene': 'IPO8', 'score': 21.67}, {'connected_gene': 'FLJ13224', 'score': 19.64}, {'connected_gene': 'KIAA1551', 'score': 19.44}, {'connected_gene': 'DDX11', 'score': 16.67}, {'connected_gene': 'H3F3C', 'score': 10.74}, {'connected_gene': 'DENND5B-AS1', 'score': 9.82}, {'connected_gene': 'DENND5B', 'score': 9.82}, {'connected_gene': 'RNU5F-4P', 'score': 9.81}, {'connected_gene': 'ENSG00000256176', 'score': 0.39}]
chr12	GH12I031658	31658364	31660520	2.03	[{'connected_gene': 'ETFBKMT', 'score': 550.39}, {'connected_gene': 'KIAA1551', 'score': 21.58}, {'connected_gene': 'DDX11', 'score': 14.86}, {'connected_gene': 'SINHCAF', 'score': 13.6}, {'connected_gene': 'FLJ13224', 'score': 13.47}, {'connected_gene': 'IPO8', 'score': 10.06}, {'connected_gene': 'AK4P3', 'score': 5.81}, {'connected_gene': 'DSPA2D', 'score': 4.88}, {'connected_gene': 'GC12P031714', 'score': 0.23}]
chr12	GH12I030692	30692502	30692955	0.72	[{'connected_gene': 'DDX11', 'score': 15.37}, {'connected_gene': 'SINHCAF', 'score': 11.31}, {'connected_gene': 'IPO8', 'score': 7.5}, {'connected_gene': 'LOC105369720', 'score': 0.2}]
chr12	GH12I031072	31072716	31075029	2.03	[{'connected_gene': 'DDX11', 'score': 704.24}, {'connected_gene': 'DDX11-AS1', 'score': 550.77}, {'connected_gene': 'SINHCAF', 'score': 13.61}, {'connected_gene': 'FLJ13224', 'score': 13.49}, {'connected_gene': 'KIAA1551', 'score': 10.81}, {'connected_gene': 'IPO8', 'score': 10.08}, {'connected_gene': 'ENSG00000212533', 'score': 0.77}, {'connected_gene': 'GC12M031076', 'score': 0.77}]
chr12	GH12I031103	31103477	31104476	0.73	[{'connected_gene': 'DDX11', 'score': 71.12}, {'connected_gene': 'DDX11-AS1', 'score': 30.4}, {'connected_gene': 'IPO8', 'score': 22.06}, {'connected_gene': 'CAPRIN2', 'score': 10.3}, {'connected_gene': 'ENSG00000270926', 'score': 0.77}, {'connected_gene': 'PIR40477', 'score': 0.37}]
chr12	GH12I030694	30694318	30696708	2.06	[{'connected_gene': 'IPO8', 'score': 605.09}, {'connected_gene': 'CAPRIN2', 'score': 16.13}, {'connected_gene': 'DDX11', 'score': 11.96}, {'connected_gene': 'DDX11-AS1', 'score': 10.18}, {'connected_gene': 'LOC105369720', 'score': 0.19}]
chr12	GH12I030807	30807201	30807799	0.95	[{'connected_gene': 'IPO8', 'score': 24.25}, {'connected_gene': 'GC12P030799', 'score': 0.44}, {'connected_gene': 'CAPRIN2', 'score': 0.37}]
chr12	GH12I030725	30725513	30726496	0.84	[{'connected_gene': 'IPO8', 'score': 19.03}, {'connected_gene': 'LOC645485', 'score': 8.89}, {'connected_gene': 'CAPRIN2', 'score': 0.15}]
chr12	GH12I031618	31618282	31621683	0.88	[{'connected_gene': 'IPO8', 'score': 17.39}, {'connected_gene': 'DDX11', 'score': 12.54}, {'connected_gene': 'AK4P3', 'score': 10.66}, {'connected_gene': 'GC12P031641', 'score': 0.34}]
chr12	GH12I031360	31360471	31361040	0.82	[{'connected_gene': 'IPO8', 'score': 72.26}, {'connected_gene': 'DDX11', 'score': 63.0}, {'connected_gene': 'DDX11-AS1', 'score': 56.35}, {'connected_gene': 'SINHCAF', 'score': 44.12}, {'connected_gene': 'BICD1', 'score': 28.94}, {'connected_gene': 'CAPRIN2', 'score': 28.11}, {'connected_gene': 'FLJ13224', 'score': 24.23}, {'connected_gene': 'ENSG00000256984', 'score': 19.87}, {'connected_gene': 'RNU6-618P', 'score': 11.82}, {'connected_gene': 'DENND5B-AS1', 'score': 10.79}, {'connected_gene': 'RNU5F-4P', 'score': 10.78}, {'connected_gene': 'DENND5B', 'score': 10.78}, {'connected_gene': 'KIAA1551', 'score': 10.75}, {'connected_gene': 'ETFBKMT', 'score': 9.83}, {'connected_gene': 'ENSG00000283256', 'score': 0.44}, {'connected_gene': 'GC12P031343', 'score': 0.37}]
chr12	GH12I030677	30677234	30677293	0.61	[{'connected_gene': 'IPO8', 'score': 550.37}, {'connected_gene': 'LOC105369720', 'score': 0.23}]
chr12	GH12I030679	30679001	30679400	0.2	[{'connected_gene': 'IPO8', 'score': 0.37}, {'connected_gene': 'LOC105369720', 'score': 0.23}]
chr12	GH12I030690	30690727	30691813	0.85	[{'connected_gene': 'IPO8', 'score': 0.77}, {'connected_gene': 'LOC105369720', 'score': 0.2}]
chr12	GH12I030786	30785587	30785776	0.2	[{'connected_gene': 'IPO8', 'score': 10.46}, {'connected_gene': 'LINC00941', 'score': 0.44}, {'connected_gene': 'LOC645485', 'score': 0.29}, {'connected_gene': 'CAPRIN2', 'score': 0.28}]
chr12	GH12I030785	30785787	30785936	0.2	[{'connected_gene': 'IPO8', 'score': 10.49}, {'connected_gene': 'LINC00941', 'score': 0.44}, {'connected_gene': 'LOC645485', 'score': 0.29}, {'connected_gene': 'CAPRIN2', 'score': 0.28}]
chr12	GH12I031636	31636154	31637269	1.14	[{'connected_gene': 'DDX11-AS1', 'score': 28.37}, {'connected_gene': 'IPO8', 'score': 19.47}, {'connected_gene': 'RNU6-618P', 'score': 12.06}, {'connected_gene': 'RNU5F-4P', 'score': 11.68}, {'connected_gene': 'DENND5B-AS1', 'score': 11.66}, {'connected_gene': 'DENND5B', 'score': 11.66}, {'connected_gene': 'SINHCAF', 'score': 10.46}, {'connected_gene': 'FLJ13224', 'score': 10.46}, {'connected_gene': 'CAPRIN2', 'score': 10.27}, {'connected_gene': 'GC12P031641', 'score': 0.77}, {'connected_gene': 'AK4P3', 'score': 0.34}]
chr12	GH12I030792	30792110	30797394	2.1	[{'connected_gene': 'LINC00941', 'score': 567.69}, {'connected_gene': 'IPO8', 'score': 5.4}, {'connected_gene': 'LOC645485', 'score': 4.47}, {'connected_gene': 'CAPRIN2', 'score': 1.81}]
chr12	GH12I031121	31118201	31118836	0.95	[{'connected_gene': 'PIR58939', 'score': 550.77}, {'connected_gene': 'GC12P031123', 'score': 550.77}, {'connected_gene': 'DDX11', 'score': 33.25}, {'connected_gene': 'SINHCAF', 'score': 27.08}, {'connected_gene': 'IPO8', 'score': 23.84}, {'connected_gene': 'FLJ13224', 'score': 16.46}, {'connected_gene': 'DDX11-AS1', 'score': 12.64}, {'connected_gene': 'LOC101060058', 'score': 0.77}, {'connected_gene': 'OVOS2', 'score': 0.14}]