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
ENST00000539659	[[14518609, 14518761], [14576842, 14578407], [14587273, 14587357], [14589039, 14589185], [14591063, 14591201], [14599921, 14599987], [14609494, 14609568], [14613428, 14613501]]	None
ENST00000537653	[[14518610, 14518761], [14576842, 14578407], [14587270, 14587357], [14589039, 14589185], [14591063, 14591201], [14599921, 14599987], [14609494, 14609568], [14610140, 14610229], [14613428, 14614067], [14619459, 14619524], [14628823, 14629366]]	None
ENST00000261168	[[14518615, 14518761], [14576842, 14578407], [14587270, 14587357], [14589039, 14589185], [14591063, 14591201], [14599921, 14599987], [14609494, 14609568], [14610140, 14610229], [14613428, 14614067], [14619459, 14619524], [14628823, 14628902], [14631250, 14631406], [14633936, 14634119], [14649164, 14649277], [14650587, 14651697]]	[[14576849, 14578407], [14587270, 14587357], [14589039, 14589185], [14591063, 14591201], [14599921, 14599987], [14609494, 14609568], [14610140, 14610229], [14613428, 14614067], [14619459, 14619524], [14628823, 14628902], [14631250, 14631406], [14633936, 14634119], [14649164, 14649277], [14650587, 14651007]]
ENST00000538511	[[14518617, 14518761], [14587270, 14587357], [14589039, 14589185], [14591063, 14591201], [14599921, 14599964]]	[[14589077, 14589185], [14591063, 14591201], [14599921, 14599964]]
ENST00000545723	[[14518621, 14518761], [14576842, 14577104], [14589128, 14589185], [14591063, 14591181]]	[[14576849, 14577104], [14589128, 14589185], [14591063, 14591181]]
ENST00000543189	[[14518626, 14518761], [14576842, 14578407], [14587273, 14587357], [14589039, 14589185], [14591063, 14591201], [14599921, 14599987], [14609494, 14609568], [14610140, 14610229], [14613428, 14614067], [14619459, 14619524], [14628823, 14628902], [14631250, 14631406], [14633936, 14635024]]	[[14576849, 14578407], [14587273, 14587357], [14589039, 14589185], [14591063, 14591201], [14599921, 14599987], [14609494, 14609568], [14610140, 14610229], [14613428, 14614067], [14619459, 14619524], [14628823, 14628902], [14631250, 14631406], [14633936, 14634160]]
ENST00000536444	[[14518662, 14518761], [14576842, 14578407], [14587273, 14587357], [14589039, 14589185], [14591063, 14591201], [14599921, 14599987], [14609494, 14609568], [14610140, 14610229], [14613428, 14614067], [14619459, 14619524], [14628823, 14628902], [14631250, 14631406], [14633936, 14634119], [14649164, 14649277], [14650587, 14651473]]	[[14576849, 14578407], [14587273, 14587357], [14589039, 14589185], [14591063, 14591201], [14599921, 14599987], [14609494, 14609568], [14610140, 14610229], [14613428, 14614067], [14619459, 14619524], [14628823, 14628902], [14631250, 14631406], [14633936, 14634119], [14649164, 14649277], [14650587, 14651007]]
ENST00000542967	[[14520257, 14520286], [14576842, 14577377]]	[[14576849, 14577377]]
ENST00000534828	[[14520296, 14520383], [14576842, 14577305]]	[[14576849, 14577305]]
ENST00000535132	[[14520306, 14520383], [14522079, 14522258], [14576842, 14577158]]	[[14576849, 14577158]]
ENST00000544627	[[14537997, 14538334], [14576842, 14578407], [14587270, 14587357], [14589039, 14589185], [14591063, 14591201], [14599921, 14599987], [14609494, 14609568], [14610140, 14610229], [14613428, 14614067], [14619459, 14619524], [14628823, 14628902], [14631250, 14631406], [14633936, 14634119], [14649164, 14649277], [14650587, 14651697]]	[[14538317, 14538334], [14576842, 14578407], [14587270, 14587357], [14589039, 14589185], [14591063, 14591201], [14599921, 14599987], [14609494, 14609568], [14610140, 14610229], [14613428, 14614067], [14619459, 14619524], [14628823, 14628902], [14631250, 14631406], [14633936, 14634119], [14649164, 14649277], [14650587, 14651007]]
ENST00000541654	[[14538249, 14538334], [14576842, 14578407], [14587270, 14587357], [14589039, 14589185], [14591063, 14591201], [14599921, 14599987], [14609494, 14609568], [14613428, 14613955]]	None
ENST00000542991	[[14547796, 14548186], [14576842, 14577026]]	[[14576849, 14577026]]
ENST00000541056	[[14561423, 14561478], [14576842, 14577357]]	[[14576849, 14577357]]
ENST00000539057	[[14569846, 14569882], [14576842, 14577379]]	[[14576849, 14577379]]
ENST00000545769	[[14572069, 14572124], [14576842, 14577355]]	[[14576849, 14577355]]
ENST00000428217	[[14572097, 14572124], [14573235, 14573380], [14576842, 14577225]]	[[14576849, 14577225]]
ENST00000396279	[[14572121, 14572295], [14576842, 14578395]]	[[14576849, 14578395]]
ENST00000542514	[[14572126, 14572152], [14573235, 14573380], [14576842, 14577246]]	[[14576849, 14577246]]
ENST00000536279	[[14572144, 14572295], [14573235, 14573380], [14576842, 14577117]]	[[14576849, 14577117]]
ENST00000542508	[[14572904, 14573380], [14576842, 14576946]]	[[14576849, 14576946]]
ENST00000540793	[[14576694, 14578407], [14587270, 14587357], [14589039, 14589185], [14591063, 14591201], [14599921, 14599987], [14609494, 14609568], [14610140, 14610229], [14613428, 14614067], [14619459, 14619524], [14628823, 14628902], [14631250, 14631406], [14633936, 14634119], [14649164, 14649277], [14650587, 14651181]]	[[14576849, 14578407], [14587270, 14587357], [14589039, 14589185], [14591063, 14591201], [14599921, 14599987], [14609494, 14609568], [14610140, 14610229], [14613428, 14614067], [14619459, 14619524], [14628823, 14628902], [14631250, 14631406], [14633936, 14634119], [14649164, 14649277], [14650587, 14651007]]
ENST00000535179	[[14619043, 14619524], [14628823, 14629088]]	None
ENST00000535738	[[14631269, 14631406], [14633936, 14634119], [14634541, 14634840]]	[[14631269, 14631406], [14633936, 14634119], [14634541, 14634567]]
NM_001286515	[[14518565, 14518761], [14576842, 14578407], [14587273, 14587357], [14589039, 14589185], [14591063, 14591201], [14599921, 14599987], [14609494, 14609568], [14610140, 14610229], [14613428, 14614067], [14619459, 14619524], [14628823, 14628902], [14631250, 14631406], [14633936, 14635024]]	[[14576849, 14578407], [14587273, 14587357], [14589039, 14589185], [14591063, 14591201], [14599921, 14599987], [14609494, 14609568], [14610140, 14610229], [14613428, 14614067], [14619459, 14619524], [14628823, 14628902], [14631250, 14631406], [14633936, 14634160]]
NM_001286514	[[14518565, 14518761], [14576842, 14578407], [14587273, 14587357], [14589039, 14589185], [14591063, 14591201], [14599921, 14599987], [14609494, 14609568], [14610140, 14610229], [14613428, 14614067], [14619459, 14619524], [14628823, 14628902], [14631250, 14631406], [14633936, 14634119], [14649164, 14649277], [14650587, 14655869]]	[[14576849, 14578407], [14587273, 14587357], [14589039, 14589185], [14591063, 14591201], [14599921, 14599987], [14609494, 14609568], [14610140, 14610229], [14613428, 14614067], [14619459, 14619524], [14628823, 14628902], [14631250, 14631406], [14633936, 14634119], [14649164, 14649277], [14650587, 14651007]]
NM_018179	[[14518565, 14518761], [14576842, 14578407], [14587270, 14587357], [14589039, 14589185], [14591063, 14591201], [14599921, 14599987], [14609494, 14609568], [14610140, 14610229], [14613428, 14614067], [14619459, 14619524], [14628823, 14628902], [14631250, 14631406], [14633936, 14634119], [14649164, 14649277], [14650587, 14655869]]	[[14576849, 14578407], [14587270, 14587357], [14589039, 14589185], [14591063, 14591201], [14599921, 14599987], [14609494, 14609568], [14610140, 14610229], [14613428, 14614067], [14619459, 14619524], [14628823, 14628902], [14631250, 14631406], [14633936, 14634119], [14649164, 14649277], [14650587, 14651007]]
NM_181352	[[14537997, 14538334], [14576842, 14578407], [14587270, 14587357], [14589039, 14589185], [14591063, 14591201], [14599921, 14599987], [14609494, 14609568], [14610140, 14610229], [14613428, 14614067], [14619459, 14619524], [14628823, 14628902], [14631250, 14631406], [14633936, 14634119], [14649164, 14649277], [14650587, 14655869]]	[[14538317, 14538334], [14576842, 14578407], [14587270, 14587357], [14589039, 14589185], [14591063, 14591201], [14599921, 14599987], [14609494, 14609568], [14610140, 14610229], [14613428, 14614067], [14619459, 14619524], [14628823, 14628902], [14631250, 14631406], [14633936, 14634119], [14649164, 14649277], [14650587, 14651007]]

Promoter

Chrom	Start	End	Description
chr12	14518565	14518580	CAGE_peak_3_at_ATF7IP_5end
chr12	14518598	14518627	CAGE_peak_1_at_ATF7IP_5end
chr12	14538180	14538199	CAGE_peak_4_at_ATF7IP_5end
chr12	14538205	14538305	CAGE_peak_2_at_ATF7IP_5end
chr12	14561422	14561431	CAGE_peak_8_at_ATF7IP_5end
chr12	14572121	14572164	CAGE_peak_30_at_ATF7IP_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I014566	14566730	14569351	1.92	[{'connected_gene': 'PLBD1', 'score': 556.91}, {'connected_gene': 'PLBD1-AS1', 'score': 556.44}, {'connected_gene': 'GUCY2C', 'score': 19.49}, {'connected_gene': 'ATF7IP', 'score': 12.36}, {'connected_gene': 'ENSG00000261324', 'score': 11.24}, {'connected_gene': 'ENSG00000214772', 'score': 10.71}, {'connected_gene': 'WBP11', 'score': 10.53}, {'connected_gene': 'HIST4H4', 'score': 9.92}]
chr12	GH12I014776	14776667	14776816	0.58	[{'connected_gene': 'H2AFJ', 'score': 7.81}, {'connected_gene': 'ATF7IP', 'score': 5.04}, {'connected_gene': 'GC12P014775', 'score': 0.77}, {'connected_gene': 'PIR36886', 'score': 0.77}, {'connected_gene': 'C12orf60', 'score': 0.44}]
chr12	GH12I014772	14772863	14776654	2.1	[{'connected_gene': 'H2AFJ', 'score': 558.56}, {'connected_gene': 'GC12P014775', 'score': 550.77}, {'connected_gene': 'PIR36886', 'score': 550.77}, {'connected_gene': 'WBP11', 'score': 22.7}, {'connected_gene': 'C12orf60', 'score': 19.51}, {'connected_gene': 'ENSG00000261324', 'score': 15.35}, {'connected_gene': 'HIST4H4', 'score': 15.12}, {'connected_gene': 'ATF7IP', 'score': 13.91}, {'connected_gene': 'ERP27', 'score': 4.53}]
chr12	GH12I014272	14272802	14274601	1.37	[{'connected_gene': 'ATF7IP', 'score': 13.59}, {'connected_gene': 'RNU6-491P', 'score': 13.13}, {'connected_gene': 'RPL30P11', 'score': 12.41}, {'connected_gene': 'PLBD1', 'score': 7.01}, {'connected_gene': 'GC12P014255', 'score': 0.37}, {'connected_gene': 'PIR56629', 'score': 0.34}, {'connected_gene': 'GC12M014297', 'score': 0.34}]
chr12	GH12I014267	14267124	14268691	0.88	[{'connected_gene': 'ATF7IP', 'score': 12.01}, {'connected_gene': 'RPL30P11', 'score': 12.01}, {'connected_gene': 'PLBD1', 'score': 3.83}, {'connected_gene': 'GC12P014255', 'score': 0.39}, {'connected_gene': 'PIR56629', 'score': 0.31}, {'connected_gene': 'GC12M014297', 'score': 0.31}]
chr12	GH12I014389	14389968	14398234	1.58	[{'connected_gene': 'ATF7IP', 'score': 16.39}, {'connected_gene': 'RPL30P11', 'score': 12.29}, {'connected_gene': 'RNU6-491P', 'score': 11.68}, {'connected_gene': 'ENSG00000261324', 'score': 4.43}, {'connected_gene': 'WBP11', 'score': 1.68}, {'connected_gene': 'GC12P014389', 'score': 0.77}, {'connected_gene': 'GC12M014383', 'score': 0.77}]
chr12	GH12I014280	14280362	14282196	0.62	[{'connected_gene': 'ATF7IP', 'score': 12.43}, {'connected_gene': 'RPL30P11', 'score': 12.43}, {'connected_gene': 'RNU6-491P', 'score': 12.39}, {'connected_gene': 'PLBD1-AS1', 'score': 4.37}, {'connected_gene': 'PIR56629', 'score': 0.39}, {'connected_gene': 'GC12M014297', 'score': 0.39}, {'connected_gene': 'GC12P014255', 'score': 0.31}]
chr12	GH12I014383	14383023	14388261	2.22	[{'connected_gene': 'ATF7IP', 'score': 562.32}, {'connected_gene': 'RPL30P11', 'score': 12.32}, {'connected_gene': 'RNU6-491P', 'score': 11.69}, {'connected_gene': 'GC12P014389', 'score': 0.77}, {'connected_gene': 'GC12M014383', 'score': 0.39}, {'connected_gene': 'GC12P014368', 'score': 0.37}]
chr12	GH12I014278	14278012	14279486	0.49	[{'connected_gene': 'ATF7IP', 'score': 12.42}, {'connected_gene': 'RPL30P11', 'score': 12.42}, {'connected_gene': 'RNU6-491P', 'score': 12.41}, {'connected_gene': 'PIR56629', 'score': 0.37}, {'connected_gene': 'GC12M014297', 'score': 0.37}, {'connected_gene': 'GC12P014255', 'score': 0.34}]
chr12	GH12I014363	14363778	14369664	2.23	[{'connected_gene': 'ATF7IP', 'score': 564.75}, {'connected_gene': 'GC12P014368', 'score': 550.77}, {'connected_gene': 'RPL30P11', 'score': 550.77}, {'connected_gene': 'ENSG00000261324', 'score': 12.93}]
chr12	GH12I014801	14801752	14804631	2.02	[{'connected_gene': 'WBP11', 'score': 593.47}, {'connected_gene': 'C12orf60', 'score': 575.18}, {'connected_gene': 'ATF7IP', 'score': 45.86}, {'connected_gene': 'ENSG00000261324', 'score': 11.43}, {'connected_gene': 'HIST4H4', 'score': 10.13}, {'connected_gene': 'H2AFJ', 'score': 5.43}, {'connected_gene': 'SMCO3', 'score': 0.39}, {'connected_gene': 'PIR58925', 'score': 0.37}]
chr12	GH12I014252	14252801	14253200	0.51	[{'connected_gene': 'GNAI2P1', 'score': 550.77}, {'connected_gene': 'GC12P014255', 'score': 550.77}, {'connected_gene': 'ATF7IP', 'score': 12.55}, {'connected_gene': 'RPL30P11', 'score': 12.55}, {'connected_gene': 'RNU6-491P', 'score': 0.77}]
chr12	GH12I014909	14909527	14911768	0.66	[{'connected_gene': 'ERP27', 'score': 31.22}, {'connected_gene': 'ENSG00000261324', 'score': 14.1}, {'connected_gene': 'ATF7IP', 'score': 12.95}, {'connected_gene': 'HIST4H4', 'score': 12.12}, {'connected_gene': 'GC12M014903', 'score': 0.77}]
chr12	GH12I014251	14251037	14251864	0.63	[{'connected_gene': 'RNU6-491P', 'score': 550.77}, {'connected_gene': 'ATF7IP', 'score': 12.55}, {'connected_gene': 'RPL30P11', 'score': 12.55}, {'connected_gene': 'GNAI2P1', 'score': 0.77}]
chr12	GH12I014420	14420647	14420796	0.4	[{'connected_gene': 'RNU6-491P', 'score': 11.87}, {'connected_gene': 'GC12M014410', 'score': 0.44}, {'connected_gene': 'ATF7IP', 'score': 0.22}, {'connected_gene': 'PIR32265', 'score': 0.2}]
chr12	GH12I014443	14443001	14443601	0.4	[{'connected_gene': 'RNU6-491P', 'score': 12.25}, {'connected_gene': 'GC12M014410', 'score': 0.29}, {'connected_gene': 'PIR32265', 'score': 0.26}, {'connected_gene': 'ATF7IP', 'score': 0.18}]
chr12	GH12I014452	14452056	14453233	0.72	[{'connected_gene': 'RNU6-491P', 'score': 12.35}, {'connected_gene': 'ENSG00000261324', 'score': 4.48}, {'connected_gene': 'PIR32265', 'score': 0.29}, {'connected_gene': 'GC12M014410', 'score': 0.26}, {'connected_gene': 'ATF7IP', 'score': 0.17}]
chr12	GH12I014445	14445206	14447601	0.2	[{'connected_gene': 'RNU6-491P', 'score': 12.25}, {'connected_gene': 'GC12M014410', 'score': 0.29}, {'connected_gene': 'PIR32265', 'score': 0.28}, {'connected_gene': 'ATF7IP', 'score': 0.18}]
chr12	GH12I014255	14255242	14262413	2.02	[{'connected_gene': 'ENSG00000261324', 'score': 67.92}, {'connected_gene': 'ATF7IP', 'score': 46.65}, {'connected_gene': 'HIST4H4', 'score': 43.46}, {'connected_gene': 'WBP11', 'score': 21.42}, {'connected_gene': 'RPL30P11', 'score': 12.89}, {'connected_gene': 'H2AFJ', 'score': 11.0}, {'connected_gene': 'PLBD1', 'score': 1.7}, {'connected_gene': 'GC12P014255', 'score': 0.77}, {'connected_gene': 'GNAI2P1', 'score': 0.77}, {'connected_gene': 'GC12M014297', 'score': 0.28}, {'connected_gene': 'PIR56629', 'score': 0.28}]
chr12	GH12I014434	14434028	14436082	0.38	[{'connected_gene': 'ENSG00000261324', 'score': 12.2}, {'connected_gene': 'ATF7IP', 'score': 12.01}, {'connected_gene': 'RPL30P11', 'score': 12.01}, {'connected_gene': 'HIST4H4', 'score': 11.17}, {'connected_gene': 'GC12M014410', 'score': 0.34}, {'connected_gene': 'PIR32265', 'score': 0.23}]
chr12	GH12I014408	14408201	14408601	0.92	[{'connected_gene': 'GC12M014410', 'score': 0.77}, {'connected_gene': 'GC12M014383', 'score': 0.39}, {'connected_gene': 'ATF7IP', 'score': 0.26}]
chr12	GH12I014398	14398836	14401721	0.97	[{'connected_gene': 'GC12M014383', 'score': 0.77}, {'connected_gene': 'GC12M014410', 'score': 0.39}, {'connected_gene': 'ATF7IP', 'score': 0.29}]
chr12	GH12I014454	14454041	14454554	0.83	[{'connected_gene': 'PIR32265', 'score': 0.29}, {'connected_gene': 'GC12M014410', 'score': 0.26}, {'connected_gene': 'ATF7IP', 'score': 0.17}]
chr12	GH12I014371	14371690	14374400	0.71	[{'connected_gene': 'ENSG00000261324', 'score': 4.32}, {'connected_gene': 'GC12P014368', 'score': 0.77}, {'connected_gene': 'ATF7IP', 'score': 0.44}, {'connected_gene': 'GC12P014389', 'score': 0.37}]
chr12	GH12I014402	14402159	14405290	1.17	[{'connected_gene': 'ENSG00000261324', 'score': 4.44}, {'connected_gene': 'GC12M014410', 'score': 0.44}, {'connected_gene': 'GC12M014383', 'score': 0.44}, {'connected_gene': 'ATF7IP', 'score': 0.28}]
chr12	GH12I014465	14465215	14467923	0.2	[{'connected_gene': 'ENSG00000261324', 'score': 4.51}, {'connected_gene': 'PIR32265', 'score': 0.37}, {'connected_gene': 'GC12M014410', 'score': 0.23}, {'connected_gene': 'ATF7IP', 'score': 0.15}]
chr12	GH12I014458	14458791	14464456	0.52	[{'connected_gene': 'PIR32265', 'score': 0.34}, {'connected_gene': 'GC12M014410', 'score': 0.25}, {'connected_gene': 'ATF7IP', 'score': 0.15}]
chr12	GH12I014845	14845201	14845800	0.93	[{'connected_gene': 'ENSG00000261324', 'score': 14.13}, {'connected_gene': 'HIST4H4', 'score': 12.65}, {'connected_gene': 'ATF7IP', 'score': 12.27}, {'connected_gene': 'H2AFJ', 'score': 11.16}, {'connected_gene': 'ART4', 'score': 0.77}, {'connected_gene': 'GC12M014862', 'score': 0.31}, {'connected_gene': 'C12orf60', 'score': 0.21}]
chr12	GH12I014410	14410757	14419276	1.14	[{'connected_gene': 'ENSG00000261324', 'score': 18.39}, {'connected_gene': 'HIST4H4', 'score': 13.12}, {'connected_gene': 'RNU6-491P', 'score': 12.14}, {'connected_gene': 'GC12M014410', 'score': 0.77}, {'connected_gene': 'ATF7IP', 'score': 0.25}, {'connected_gene': 'PIR32265', 'score': 0.19}]
chr12	GH12I014427	14427405	14433109	0.62	[{'connected_gene': 'ENSG00000261324', 'score': 17.56}, {'connected_gene': 'HIST4H4', 'score': 14.4}, {'connected_gene': 'RPL30P11', 'score': 12.02}, {'connected_gene': 'ATF7IP', 'score': 12.02}, {'connected_gene': 'RNU6-491P', 'score': 11.84}, {'connected_gene': 'WBP11', 'score': 10.07}, {'connected_gene': 'ERP27', 'score': 4.98}, {'connected_gene': 'GC12M014410', 'score': 0.37}, {'connected_gene': 'PIR32265', 'score': 0.22}]