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
ENST00000472748	[[172700878, 172701018], [172712343, 172712459], [172725190, 172725333], [172749714, 172749768], [172864585, 172864762]]	None
ENST00000484227	[[172712310, 172712459], [172725190, 172725333], [172749714, 172749768], [172856256, 172856352], [172864585, 172864699]]	None
ENST00000464063	[[172712436, 172712459], [172725190, 172725333], [172749714, 172749768], [172777589, 172777741], [172864585, 172864766]]	None
ENST00000422440	[[172640879, 172641985], [172644080, 172644171], [172644298, 172644457], [172647960, 172648099], [172650136, 172650277], [172666115, 172666196], [172666733, 172666786], [172669848, 172670007], [172671630, 172671712], [172683307, 172683392], [172690472, 172690566], [172691236, 172691375], [172693630, 172693777], [172700878, 172701018], [172712343, 172712459], [172725190, 172725333], [172749714, 172749768], [172750712, 172750762]]	[[172641783, 172641985], [172644080, 172644171], [172644298, 172644457], [172647960, 172648099], [172650136, 172650277], [172666115, 172666196], [172666733, 172666786], [172669848, 172670007], [172671630, 172671712], [172683307, 172683392], [172690472, 172690566], [172691236, 172691375], [172693630, 172693777], [172700878, 172701018], [172712343, 172712459], [172725190, 172725333], [172749714, 172749768], [172750712, 172750724]]
ENST00000263812	[[172641284, 172641985], [172644080, 172644171], [172644298, 172644457], [172647960, 172648099], [172650136, 172650277], [172666115, 172666196], [172666733, 172666786], [172669848, 172670007], [172671630, 172671712], [172683307, 172683392], [172690472, 172690566], [172691236, 172691375], [172693630, 172693777], [172700878, 172701018], [172725190, 172725333], [172749714, 172749768], [172750712, 172750733]]	[[172700963, 172701018], [172725190, 172725333], [172749714, 172749768], [172750712, 172750724]]
ENST00000392592	[[172641284, 172641985], [172644080, 172644171], [172644298, 172644457], [172647960, 172648099], [172650136, 172650277], [172666115, 172666196], [172666733, 172666786], [172669848, 172670007], [172671630, 172671712], [172683307, 172683392], [172690472, 172690566], [172691236, 172691375], [172693630, 172693777], [172700878, 172701018], [172725190, 172725333], [172749714, 172749768], [172750712, 172750733]]	[[172641783, 172641985], [172644080, 172644171], [172644298, 172644457], [172647960, 172648099], [172650136, 172650277], [172666115, 172666196], [172666733, 172666786], [172669848, 172670007], [172671630, 172671712], [172683307, 172683392], [172690472, 172690566], [172691236, 172691375], [172693630, 172693777], [172700878, 172701018], [172725190, 172725194]]
ENST00000472070	[[172641341, 172641985], [172644080, 172644171], [172644298, 172645452]]	None
ENST00000494892	[[172665934, 172666196], [172666733, 172666790]]	None
ENST00000485880	[[172671618, 172671712], [172683307, 172683392], [172690472, 172690845]]	None
ENST00000426896	[[172690540, 172690566], [172691236, 172691375], [172693630, 172693777], [172700878, 172701018], [172704682, 172704786], [172712343, 172712459], [172725190, 172725333], [172749714, 172749768], [172750712, 172750754]]	[[172693713, 172693777], [172700878, 172701018], [172704682, 172704786], [172712343, 172712459], [172725190, 172725333], [172749714, 172749768], [172750712, 172750724]]
ENST00000475360	[[172693658, 172693777], [172700878, 172701018], [172702236, 172702368], [172704682, 172704786], [172709177, 172709198], [172712343, 172712459], [172725190, 172725333], [172749714, 172749768]]	[[172702278, 172702368], [172704682, 172704786], [172709177, 172709198], [172712343, 172712459], [172725190, 172725333], [172749714, 172749768]]
NM_003705	[[172639914, 172641985], [172644080, 172644171], [172644298, 172644457], [172647960, 172648099], [172650136, 172650277], [172666115, 172666196], [172666733, 172666786], [172669848, 172670007], [172671630, 172671712], [172683307, 172683392], [172690472, 172690566], [172691236, 172691375], [172693630, 172693777], [172700878, 172701018], [172712343, 172712459], [172725190, 172725333], [172749714, 172749768], [172750712, 172750816]]	[[172641783, 172641985], [172644080, 172644171], [172644298, 172644457], [172647960, 172648099], [172650136, 172650277], [172666115, 172666196], [172666733, 172666786], [172669848, 172670007], [172671630, 172671712], [172683307, 172683392], [172690472, 172690566], [172691236, 172691375], [172693630, 172693777], [172700878, 172701018], [172712343, 172712459], [172725190, 172725333], [172749714, 172749768], [172750712, 172750724]]
NR_047549	[[172639914, 172641985], [172644080, 172644171], [172644298, 172644457], [172647960, 172648099], [172650136, 172650277], [172666115, 172666196], [172666733, 172666786], [172669848, 172670007], [172671630, 172671712], [172683307, 172683392], [172690472, 172690566], [172691236, 172691375], [172693630, 172693777], [172700878, 172701018], [172725190, 172725333], [172749714, 172749768], [172750712, 172750816]]	None

Promoter

Chrom	Start	End	Description
chr2	172750737	172750761	CAGE_peak_1_at_SLC25A12_5end
chr2	172750994	172751036	CAGE_peak_3_at_SLC25A12_5end
chr2	172864721	172864773	CAGE_peak_2_at_SLC25A12_5end
chr2	172864786	172864797	CAGE_peak_7_at_SLC25A12_5end
chr2	172864810	172864822	CAGE_peak_4_at_SLC25A12_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I171893	171893221	171895125	2.03	[{'connected_gene': 'SLC25A12', 'score': 567.89}, {'connected_gene': 'HAT1', 'score': 12.41}, {'connected_gene': 'METAP1D', 'score': 10.53}, {'connected_gene': 'LOC105373739', 'score': 0.34}, {'connected_gene': 'RNU6-182P', 'score': 0.28}]
chr2	GH02I171806	171806598	171808540	0.81	[{'connected_gene': 'SLC25A12', 'score': 18.53}, {'connected_gene': 'METAP1D', 'score': 10.67}, {'connected_gene': 'HAT1', 'score': 10.63}, {'connected_gene': 'GC02P171811', 'score': 0.77}, {'connected_gene': 'DYNC1I2', 'score': 0.13}]
chr2	GH02I172052	172052413	172052562	0.95	[{'connected_gene': 'SLC25A12', 'score': 11.96}, {'connected_gene': 'METAP1D', 'score': 11.96}, {'connected_gene': 'HAT1', 'score': 11.79}, {'connected_gene': 'GC02P172074', 'score': 0.34}]
chr2	GH02I172066	172066478	172066866	1.01	[{'connected_gene': 'SLC25A12', 'score': 11.42}, {'connected_gene': 'METAP1D', 'score': 11.42}, {'connected_gene': 'HAT1', 'score': 10.83}, {'connected_gene': 'GC02P172074', 'score': 0.44}]
chr2	GH02I171711	171711108	171713111	0.97	[{'connected_gene': 'SLC25A12', 'score': 15.58}, {'connected_gene': 'METAP1D', 'score': 10.6}, {'connected_gene': 'DYNC1I2', 'score': 0.34}, {'connected_gene': 'GC02P171811', 'score': 0.15}]
chr2	GH02I171793	171793307	171793423	0.44	[{'connected_gene': 'SLC25A12', 'score': 10.72}, {'connected_gene': 'METAP1D', 'score': 10.72}, {'connected_gene': 'GC02P171811', 'score': 0.37}, {'connected_gene': 'DYNC1I2', 'score': 0.14}]
chr2	GH02I172017	172017801	172018600	0.31	[{'connected_gene': 'SLC25A12', 'score': 0.37}, {'connected_gene': 'METAP1D', 'score': 0.37}, {'connected_gene': 'GC02P172074', 'score': 0.22}]
chr2	GH02I172027	172027709	172028466	0.88	[{'connected_gene': 'SLC25A12', 'score': 0.31}, {'connected_gene': 'METAP1D', 'score': 0.31}, {'connected_gene': 'GC02P172074', 'score': 0.25}]
chr2	GH02I172011	172011601	172012600	0.49	[{'connected_gene': 'SLC25A12', 'score': 0.39}, {'connected_gene': 'METAP1D', 'score': 0.39}, {'connected_gene': 'GC02P172074', 'score': 0.21}]
chr2	GH02I172038	172038751	172038940	0.83	[{'connected_gene': 'SLC25A12', 'score': 0.28}, {'connected_gene': 'METAP1D', 'score': 0.28}, {'connected_gene': 'GC02P172074', 'score': 0.28}]
chr2	GH02I172008	172008154	172009687	0.8	[{'connected_gene': 'SLC25A12', 'score': 0.44}, {'connected_gene': 'METAP1D', 'score': 0.44}, {'connected_gene': 'GC02P172074', 'score': 0.2}]
chr2	GH02I172021	172021527	172022457	1.05	[{'connected_gene': 'SLC25A12', 'score': 0.34}, {'connected_gene': 'METAP1D', 'score': 0.34}, {'connected_gene': 'GC02P172074', 'score': 0.23}]
chr2	GH02I172013	172013154	172013303	0.46	[{'connected_gene': 'SLC25A12', 'score': 11.23}, {'connected_gene': 'METAP1D', 'score': 0.39}, {'connected_gene': 'GC02P172074', 'score': 0.21}]
chr2	GH02I172389	172389630	172390618	0.65	[{'connected_gene': 'SLC25A12', 'score': 5.54}, {'connected_gene': 'ENSG00000278924', 'score': 0.29}, {'connected_gene': 'LOC105373742', 'score': 0.22}]
chr2	GH02I171921	171921334	171924718	2.07	[{'connected_gene': 'HAT1', 'score': 563.36}, {'connected_gene': 'LOC105373740', 'score': 550.77}, {'connected_gene': 'DAP3P2', 'score': 13.34}, {'connected_gene': 'DCAF17', 'score': 10.9}, {'connected_gene': 'SLC25A12', 'score': 10.58}, {'connected_gene': 'GC02M171942', 'score': 0.37}]
chr2	GH02I171891	171891041	171891307	0.22	[{'connected_gene': 'HAT1', 'score': 11.96}, {'connected_gene': 'LOC105373739', 'score': 0.31}, {'connected_gene': 'RNU6-182P', 'score': 0.29}, {'connected_gene': 'SLC25A12', 'score': 0.14}]
chr2	GH02I172396	172396592	172398440	0.31	[{'connected_gene': 'ITGA6', 'score': 12.67}, {'connected_gene': 'ENSG00000226963', 'score': 12.65}, {'connected_gene': 'ENSG00000232788', 'score': 11.03}, {'connected_gene': 'SLC25A12', 'score': 5.43}, {'connected_gene': 'ENSG00000278924', 'score': 0.31}, {'connected_gene': 'LOC105373742', 'score': 0.2}]
chr2	GH02I172121	172121391	172122078	0.59	[{'connected_gene': 'ITGA6', 'score': 11.25}, {'connected_gene': 'ENSG00000232788', 'score': 11.25}, {'connected_gene': 'ENSG00000226963', 'score': 9.89}, {'connected_gene': 'SLC25A12', 'score': 4.63}, {'connected_gene': 'LOC105373741', 'score': 0.37}, {'connected_gene': 'DLX2-AS1', 'score': 0.37}, {'connected_gene': 'GC02M172117', 'score': 0.2}]
chr2	GH02I171999	171999271	172001280	1.59	[{'connected_gene': 'METAP1D', 'score': 560.85}, {'connected_gene': 'SLC25A12', 'score': 559.49}, {'connected_gene': 'DCAF17', 'score': 25.5}, {'connected_gene': 'DAP3P2', 'score': 24.41}, {'connected_gene': 'RPS15P4', 'score': 11.92}, {'connected_gene': 'GC02P172074', 'score': 0.19}]
chr2	GH02I171797	171797771	171799234	0.94	[{'connected_gene': 'RNU6-182P', 'score': 10.45}, {'connected_gene': 'SLC25A12', 'score': 7.83}, {'connected_gene': 'GC02P171811', 'score': 0.39}, {'connected_gene': 'DYNC1I2', 'score': 0.14}]
chr2	GH02I171878	171878090	171879058	1.05	[{'connected_gene': 'RNU6-182P', 'score': 11.4}, {'connected_gene': 'HAT1', 'score': 10.96}, {'connected_gene': 'SLC25A12', 'score': 10.3}, {'connected_gene': 'METAP1D', 'score': 10.3}, {'connected_gene': 'LOC105373739', 'score': 0.28}]
chr2	GH02I171966	171966061	171966530	0.66	[{'connected_gene': 'GC02M171944', 'score': 550.77}, {'connected_gene': 'SLC25A12', 'score': 12.04}, {'connected_gene': 'METAP1D', 'score': 12.04}, {'connected_gene': 'HAT1', 'score': 11.16}, {'connected_gene': 'GC02P171964', 'score': 0.77}]
chr2	GH02I171963	171963843	171964792	1.17	[{'connected_gene': 'GC02P171964', 'score': 550.77}, {'connected_gene': 'SLC25A12', 'score': 12.02}, {'connected_gene': 'METAP1D', 'score': 12.02}, {'connected_gene': 'HAT1', 'score': 11.16}, {'connected_gene': 'GC02M171944', 'score': 0.77}]
chr2	GH02I171836	171836642	171836886	0.39	[{'connected_gene': 'GC02P171853', 'score': 0.37}, {'connected_gene': 'GC02P171811', 'score': 0.31}, {'connected_gene': 'SLC25A12', 'score': 0.1}]
chr2	GH02I171956	171956001	171957425	0.62	[{'connected_gene': 'PIR50788', 'score': 550.77}, {'connected_gene': 'HAT1', 'score': 12.43}, {'connected_gene': 'SLC25A12', 'score': 12.05}, {'connected_gene': 'METAP1D', 'score': 12.05}, {'connected_gene': 'GC02M171944', 'score': 0.44}, {'connected_gene': 'GC02M171942', 'score': 0.37}]
chr2	GH02I171958	171958401	171958801	0.49	[{'connected_gene': 'PIR50788', 'score': 550.77}, {'connected_gene': 'HAT1', 'score': 12.08}, {'connected_gene': 'SLC25A12', 'score': 11.18}, {'connected_gene': 'METAP1D', 'score': 11.18}, {'connected_gene': 'GC02P171964', 'score': 0.44}, {'connected_gene': 'GC02M171944', 'score': 0.44}]
chr2	GH02I171954	171954920	171955009	0.65	[{'connected_gene': 'PIR50788', 'score': 550.77}, {'connected_gene': 'HAT1', 'score': 12.43}, {'connected_gene': 'SLC25A12', 'score': 12.05}, {'connected_gene': 'METAP1D', 'score': 12.05}, {'connected_gene': 'GC02M171942', 'score': 0.39}, {'connected_gene': 'GC02M171944', 'score': 0.39}]
chr2	GH02I171936	171936361	171936572	0.22	[{'connected_gene': 'GC02M171942', 'score': 0.77}, {'connected_gene': 'HAT1', 'score': 0.39}, {'connected_gene': 'SLC25A12', 'score': 0.21}]
chr2	GH02I172074	172074344	172074596	0.69	[{'connected_gene': 'GC02P172074', 'score': 550.77}, {'connected_gene': 'DLX2', 'score': 11.99}, {'connected_gene': 'DLX2-AS1', 'score': 11.99}, {'connected_gene': 'SLC25A12', 'score': 11.53}, {'connected_gene': 'METAP1D', 'score': 11.53}, {'connected_gene': 'HAT1', 'score': 10.97}, {'connected_gene': 'DLX1', 'score': 0.39}]
chr2	GH02I172071	172071791	172073521	1.12	[{'connected_gene': 'GC02P172074', 'score': 550.77}, {'connected_gene': 'DLX2', 'score': 11.97}, {'connected_gene': 'DLX2-AS1', 'score': 11.97}, {'connected_gene': 'SLC25A12', 'score': 11.53}, {'connected_gene': 'METAP1D', 'score': 11.53}, {'connected_gene': 'HAT1', 'score': 10.97}]