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
ENST00000431975	[[131456805, 131456922], [131466424, 131466556], [131481198, 131481338], [131486220, 131486357], [131490252, 131490413], [131520600, 131520713], [131540800, 131540948], [131602669, 131604675]]	[[131456903, 131456922], [131466424, 131466556], [131481198, 131481338], [131486220, 131486357], [131490252, 131490413], [131520600, 131520713], [131540800, 131540948], [131602669, 131602866]]
ENST00000541650	[[131456876, 131456922], [131466427, 131466556], [131481198, 131481338], [131486220, 131486357], [131490252, 131490413], [131520600, 131520713], [131540800, 131540948], [131603538, 131604672]]	[[131456903, 131456922], [131466427, 131466556], [131481198, 131481338], [131486220, 131486357], [131490252, 131490413], [131520600, 131520713], [131540800, 131540948], [131603538, 131603744]]
ENST00000366358	[[131458517, 131458891], [131466424, 131466556], [131481198, 131481338], [131486220, 131486289], [131505512, 131505698]]	None
ENST00000368123	[[131466460, 131466556], [131481198, 131481338], [131486220, 131486357], [131490252, 131490413], [131520600, 131520713], [131540800, 131540948], [131602669, 131604673]]	[[131466471, 131466556], [131481198, 131481338], [131486220, 131486357], [131490252, 131490413], [131520600, 131520713], [131540800, 131540948], [131602669, 131602866]]
ENST00000535150	[[131485475, 131485672], [131486220, 131486357], [131520600, 131520713], [131540800, 131540948], [131603538, 131603984]]	None
ENST00000537868	[[131521130, 131521202], [131540800, 131540948], [131603538, 131604324]]	[[131540890, 131540948], [131603538, 131603744]]
ENST00000263050	[[131521966, 131522050], [131540800, 131540948], [131602669, 131604675]]	[[131540890, 131540948], [131602669, 131602866]]
ENST00000342266	[[131571298, 131571756], [131602669, 131604672]]	[[131571707, 131571756], [131602669, 131602866]]
ENST00000474850	[[131571569, 131571756], [131574176, 131574245], [131602669, 131603083]]	[[131571707, 131571756], [131574176, 131574245], [131602669, 131602866]]
ENST00000479599	[[131481198, 131481338], [131485537, 131485672], [131486220, 131486357], [131490252, 131490375]]	[[131481198, 131481338], [131485537, 131485552]]
ENST00000543815	[[131481314, 131481338], [131486220, 131486357], [131490252, 131490413], [131540800, 131540890]]	None
NM_016377	[[131456825, 131456922], [131466424, 131466556], [131481198, 131481338], [131486220, 131486357], [131490252, 131490413], [131520600, 131520713], [131540800, 131540948], [131602669, 131604675]]	[[131456903, 131456922], [131466424, 131466556], [131481198, 131481338], [131486220, 131486357], [131490252, 131490413], [131520600, 131520713], [131540800, 131540948], [131602669, 131602866]]
NM_004842	[[131571298, 131571756], [131602669, 131604675]]	[[131571707, 131571756], [131602669, 131602866]]
NM_138633	[[131571298, 131571756], [131574176, 131574245], [131602669, 131604675]]	[[131571707, 131571756], [131574176, 131574245], [131602669, 131602866]]

Promoter

Chrom	Start	End	Description
chr6	131456428	131456442	CAGE_peak_6_at_AKAP7_5end
chr6	131456549	131456644	CAGE_peak_1_at_AKAP7_5end
chr6	131521058	131521076	CAGE_peak_12_at_AKAP7_5end
chr6	131521120	131521152	CAGE_peak_3_at_AKAP7_5end
chr6	131521169	131521175	CAGE_peak_16_at_AKAP7_5end
chr6	131571466	131571487	CAGE_peak_9_at_AKAP7_5end
chr6	131571516	131571534	CAGE_peak_10_at_AKAP7_5end
chr6	131571535	131571595	CAGE_peak_2_at_AKAP7_5end
chr6	131571628	131571652	CAGE_peak_7_at_AKAP7_5end
chr6	131571662	131571673	CAGE_peak_13_at_AKAP7_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I131274	131274496	131274626	0.23	[{'connected_gene': 'AKAP7', 'score': 6.46}, {'connected_gene': 'MED23', 'score': 3.2}, {'connected_gene': 'LOC100421246', 'score': 0.17}, {'connected_gene': 'LOC105378005', 'score': 0.1}]
chr6	GH06I131273	131273046	131273348	0.28	[{'connected_gene': 'AKAP7', 'score': 5.5}, {'connected_gene': 'MED23', 'score': 3.18}, {'connected_gene': 'LOC100421246', 'score': 0.17}, {'connected_gene': 'LOC105378005', 'score': 0.09}]
chr6	GH06I131758	131758296	131762074	0.31	[{'connected_gene': 'AKAP7', 'score': 4.43}, {'connected_gene': 'GC06M131781', 'score': 0.34}, {'connected_gene': 'CTAGE9', 'score': 0.25}]
chr6	GH06I131249	131249923	131252655	1.51	[{'connected_gene': 'AKAP7', 'score': 554.54}, {'connected_gene': 'ARG1', 'score': 11.36}, {'connected_gene': 'LOC100421246', 'score': 0.2}, {'connected_gene': 'LOC105378005', 'score': 0.08}]
chr6	GH06I131106	131106637	131108200	1.04	[{'connected_gene': 'AKAP7', 'score': 10.82}, {'connected_gene': 'EPB41L2', 'score': 7.35}, {'connected_gene': 'SMLR1', 'score': 6.1}, {'connected_gene': 'LOC102723445', 'score': 0.34}, {'connected_gene': 'PIR44982', 'score': 0.28}]
chr6	GH06I131053	131053121	131054785	0.43	[{'connected_gene': 'AKAP7', 'score': 5.35}, {'connected_gene': 'EPB41L2', 'score': 0.44}, {'connected_gene': 'SMLR1', 'score': 0.07}]
chr6	GH06I131060	131060381	131060610	0.56	[{'connected_gene': 'AKAP7', 'score': 5.45}, {'connected_gene': 'EPB41L2', 'score': 0.77}, {'connected_gene': 'SMLR1', 'score': 0.07}]
chr6	GH06I131023	131023785	131024870	0.88	[{'connected_gene': 'AKAP7', 'score': 11.27}, {'connected_gene': 'EPB41L2', 'score': 0.28}, {'connected_gene': 'SMLR1', 'score': 0.08}]
chr6	GH06I131399	131399532	131401359	0.97	[{'connected_gene': 'AKAP7', 'score': 10.31}, {'connected_gene': 'LOC105378005', 'score': 0.26}, {'connected_gene': 'LOC100421246', 'score': 0.08}]
chr6	GH06I131412	131412620	131415450	0.2	[{'connected_gene': 'AKAP7', 'score': 5.31}, {'connected_gene': 'LOC105378005', 'score': 0.31}, {'connected_gene': 'LOC100421246', 'score': 0.07}]
chr6	GH06I131398	131398241	131398390	0.31	[{'connected_gene': 'AKAP7', 'score': 11.22}, {'connected_gene': 'LOC105378005', 'score': 0.25}, {'connected_gene': 'LOC100421246', 'score': 0.08}]
chr6	GH06I130778	130778801	130779870	0.49	[{'connected_gene': 'AKAP7', 'score': 4.59}, {'connected_gene': 'LOC105378003', 'score': 0.44}, {'connected_gene': 'PIR48495', 'score': 0.34}]
chr6	GH06I130928	130928129	130930077	0.58	[{'connected_gene': 'AKAP7', 'score': 7.18}, {'connected_gene': 'SMLR1', 'score': 6.73}, {'connected_gene': 'EPB41L2', 'score': 0.12}]
chr6	GH06I131048	131048140	131050167	0.49	[{'connected_gene': 'AKAP7', 'score': 5.89}, {'connected_gene': 'SMLR1', 'score': 5.03}, {'connected_gene': 'EPB41L2', 'score': 0.39}]
chr6	GH06I130885	130885481	130885630	0.78	[{'connected_gene': 'AKAP7', 'score': 4.75}, {'connected_gene': 'SMLR1', 'score': 0.22}, {'connected_gene': 'EPB41L2', 'score': 0.1}]
chr6	GH06I131158	131158913	131158924	0.24	[{'connected_gene': 'AKAP7', 'score': 0.34}, {'connected_gene': 'LOC100421246', 'score': 0.31}]
chr6	GH06I131134	131134533	131136871	1.97	[{'connected_gene': 'AKAP7', 'score': 583.89}, {'connected_gene': 'LOC100421246', 'score': 0.25}]
chr6	GH06I131139	131139801	131140200	0.2	[{'connected_gene': 'AKAP7', 'score': 0.77}, {'connected_gene': 'LOC100421246', 'score': 0.25}]
chr6	GH06I130980	130980001	130983496	1	[{'connected_gene': 'MED23', 'score': 21.56}, {'connected_gene': 'SMLR1', 'score': 16.15}, {'connected_gene': 'AKAP7', 'score': 5.55}, {'connected_gene': 'EPB41L2', 'score': 0.18}]
chr6	GH06I131256	131256938	131260055	0.92	[{'connected_gene': 'ARG1', 'score': 5.19}, {'connected_gene': 'AKAP7', 'score': 2.06}, {'connected_gene': 'MED23', 'score': 1.3}, {'connected_gene': 'LOC100421246', 'score': 0.19}, {'connected_gene': 'LOC105378005', 'score': 0.09}]
chr6	GH06I131257	131256001	131256200	0.2	[{'connected_gene': 'ARG1', 'score': 11.36}, {'connected_gene': 'LOC100421246', 'score': 0.19}, {'connected_gene': 'AKAP7', 'score': 0.13}, {'connected_gene': 'LOC105378005', 'score': 0.09}]
chr6	GH06I131064	131064780	131066423	1.31	[{'connected_gene': 'EPB41L2', 'score': 5.97}, {'connected_gene': 'AKAP7', 'score': 4.96}, {'connected_gene': 'LOC105378004', 'score': 0.77}, {'connected_gene': 'PIR44982', 'score': 0.77}]
chr6	GH06I131000	131000601	131006236	1.61	[{'connected_gene': 'EPB41L2', 'score': 560.81}, {'connected_gene': 'AKAP7', 'score': 5.3}, {'connected_gene': 'SMLR1', 'score': 5.3}]
chr6	GH06I131030	131029774	131029920	0.57	[{'connected_gene': 'EPB41L2', 'score': 10.94}, {'connected_gene': 'AKAP7', 'score': 3.7}, {'connected_gene': 'SMLR1', 'score': 0.08}]
chr6	GH06I131041	131041235	131043269	0.58	[{'connected_gene': 'EPB41L2', 'score': 12.42}, {'connected_gene': 'AKAP7', 'score': 5.61}, {'connected_gene': 'SMLR1', 'score': 0.08}]
chr6	GH06I131029	131029961	131030400	0.76	[{'connected_gene': 'EPB41L2', 'score': 10.94}, {'connected_gene': 'AKAP7', 'score': 5.33}, {'connected_gene': 'SMLR1', 'score': 0.08}]
chr6	GH06I131013	131013016	131016893	1.16	[{'connected_gene': 'EPB41L2', 'score': 11.35}, {'connected_gene': 'AKAP7', 'score': 5.75}, {'connected_gene': 'SMLR1', 'score': 0.09}]
chr6	GH06I131037	131037715	131040264	1.31	[{'connected_gene': 'EPB41L2', 'score': 12.42}, {'connected_gene': 'AKAP7', 'score': 5.42}, {'connected_gene': 'SMLR1', 'score': 0.08}]
chr6	GH06I130996	130996908	130997784	1.08	[{'connected_gene': 'EPB41L2', 'score': 10.95}, {'connected_gene': 'AKAP7', 'score': 4.89}, {'connected_gene': 'SMLR1', 'score': 0.1}]
chr6	GH06I130992	130992634	130995075	1.31	[{'connected_gene': 'EPB41L2', 'score': 11.03}, {'connected_gene': 'AKAP7', 'score': 7.37}, {'connected_gene': 'SMLR1', 'score': 0.1}]
chr6	GH06I130966	130966710	130971136	2.06	[{'connected_gene': 'EPB41L2', 'score': 550.16}, {'connected_gene': 'SMLR1', 'score': 16.17}, {'connected_gene': 'AKAP7', 'score': 9.2}]
chr6	GH06I130932	130932271	130939281	1.15	[{'connected_gene': 'SMLR1', 'score': 17.0}, {'connected_gene': 'AKAP7', 'score': 4.85}, {'connected_gene': 'EPB41L2', 'score': 0.13}]
chr6	GH06I130945	130945189	130946480	0.84	[{'connected_gene': 'SMLR1', 'score': 16.99}, {'connected_gene': 'AKAP7', 'score': 7.02}, {'connected_gene': 'EPB41L2', 'score': 0.13}]
chr6	GH06I130826	130825728	130829353	1.41	[{'connected_gene': 'SMLR1', 'score': 571.68}, {'connected_gene': 'AKAP7', 'score': 9.88}, {'connected_gene': 'EPB41L2', 'score': 0.07}]
chr6	GH06I130911	130911659	130914145	0.46	[{'connected_gene': 'SMLR1', 'score': 17.04}, {'connected_gene': 'AKAP7', 'score': 8.43}, {'connected_gene': 'EPB41L2', 'score': 0.1}]
chr6	GH06I130907	130907448	130907956	0.38	[{'connected_gene': 'SMLR1', 'score': 18.37}, {'connected_gene': 'AKAP7', 'score': 5.96}, {'connected_gene': 'EPB41L2', 'score': 0.1}]
chr6	GH06I130890	130890202	130891224	0.31	[{'connected_gene': 'SMLR1', 'score': 17.9}, {'connected_gene': 'EPB41L2', 'score': 11.18}, {'connected_gene': 'AKAP7', 'score': 4.41}]
chr6	GH06I131199	131199341	131201436	0.92	[{'connected_gene': 'LOC100421246', 'score': 0.39}, {'connected_gene': 'AKAP7', 'score': 0.21}, {'connected_gene': 'LOC105378005', 'score': 0.07}]
chr6	GH06I131197	131197459	131199102	0.2	[{'connected_gene': 'LOC100421246', 'score': 0.39}, {'connected_gene': 'AKAP7', 'score': 0.21}, {'connected_gene': 'LOC105378005', 'score': 0.07}]
chr6	GH06I131216	131216401	131216550	0.6	[{'connected_gene': 'LOC100421246', 'score': 0.29}, {'connected_gene': 'AKAP7', 'score': 0.18}, {'connected_gene': 'LOC105378005', 'score': 0.07}]
chr6	GH06I131206	131206506	131206741	0.23	[{'connected_gene': 'LOC100421246', 'score': 0.34}, {'connected_gene': 'AKAP7', 'score': 0.19}, {'connected_gene': 'LOC105378005', 'score': 0.07}]
chr6	GH06I131213	131213226	131214269	0.51	[{'connected_gene': 'LOC100421246', 'score': 0.31}, {'connected_gene': 'AKAP7', 'score': 0.18}, {'connected_gene': 'LOC105378005', 'score': 0.07}]
chr6	GH06I131280	131280419	131285386	0.77	[{'connected_gene': 'LOC100421246', 'score': 0.15}, {'connected_gene': 'AKAP7', 'score': 0.11}, {'connected_gene': 'LOC105378005', 'score': 0.1}]
chr6	GH06I131161	131161768	131163228	0.43	[{'connected_gene': 'LOC100421246', 'score': 0.34}, {'connected_gene': 'AKAP7', 'score': 0.31}]
chr6	GH06I131182	131182541	131183836	0.58	[{'connected_gene': 'LOC100421246', 'score': 0.77}, {'connected_gene': 'AKAP7', 'score': 0.25}]
chr6	GH06I131164	131164601	131164750	0.2	[{'connected_gene': 'LOC100421246', 'score': 0.34}, {'connected_gene': 'AKAP7', 'score': 0.31}]
chr6	GH06I131163	131163981	131164150	0.49	[{'connected_gene': 'LOC100421246', 'score': 0.34}, {'connected_gene': 'AKAP7', 'score': 0.31}]
chr6	GH06I130185	130185804	130186917	0.2	[{'connected_gene': 'ENSG00000227678', 'score': 10.66}, {'connected_gene': 'AKAP7', 'score': 4.4}, {'connected_gene': 'SAMD3', 'score': 0.1}]
chr6	GH06I132059	132059657	132065229	1.23	[{'connected_gene': 'GC06P132061', 'score': 550.77}, {'connected_gene': 'AKAP7', 'score': 4.3}, {'connected_gene': 'CTGF', 'score': 1.66}, {'connected_gene': 'ENSG00000236166', 'score': 0.34}, {'connected_gene': 'ENSG00000227220', 'score': 0.14}]
chr6	GH06I132082	132082904	132087810	1.19	[{'connected_gene': 'ENSG00000236166', 'score': 550.77}, {'connected_gene': 'LINC01013', 'score': 6.04}, {'connected_gene': 'AKAP7', 'score': 4.33}, {'connected_gene': 'MIR548AJ1', 'score': 0.31}, {'connected_gene': 'GC06M132077', 'score': 0.08}]