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
ENST00000557345	[[51338877, 51338996], [51345462, 51345565], [51347169, 51347289], [51348313, 51348344], [51353364, 51353402], [51355541, 51355621], [51368546, 51368629], [51370106, 51370185], [51370791, 51370910], [51371056, 51371688]]	[[51338892, 51338996], [51345462, 51345541]]
ENST00000382029	[[51338877, 51338996], [51345462, 51345565], [51347169, 51347289], [51348313, 51348344], [51352331, 51352377], [51352483, 51352613], [51353364, 51353402], [51355541, 51355621], [51368546, 51368629], [51370106, 51370185], [51370791, 51370910], [51371056, 51371688]]	[[51338892, 51338996], [51345462, 51345541]]
ENST00000395752	[[51338877, 51338996], [51345462, 51345565], [51347169, 51347289], [51348313, 51348344], [51352331, 51352377], [51352483, 51352613], [51353364, 51353402], [51355541, 51355621], [51368546, 51368629], [51370106, 51370185], [51370791, 51370910], [51371056, 51371688]]	[[51345551, 51345565], [51347169, 51347289], [51348313, 51348344], [51352331, 51352377], [51352483, 51352613], [51353364, 51353402], [51355541, 51355621], [51368546, 51368629], [51370106, 51370185], [51370791, 51370910], [51371056, 51371084]]
ENST00000337334	[[51338877, 51338996], [51344669, 51344797], [51345462, 51345565], [51347169, 51347289], [51348313, 51348344], [51352331, 51352377], [51352483, 51352613], [51353364, 51353402], [51355541, 51355621], [51368546, 51368629], [51370106, 51370185], [51370791, 51370910], [51371056, 51371688]]	[[51338892, 51338996], [51344669, 51344797], [51345462, 51345565], [51347169, 51347289], [51348313, 51348344], [51352331, 51352377], [51352483, 51352613], [51353364, 51353402], [51355541, 51355621], [51368546, 51368629], [51370106, 51370185], [51370791, 51370910], [51371056, 51371084]]
ENST00000353130	[[51338877, 51338996], [51347169, 51347289], [51348313, 51348344], [51352331, 51352377], [51352483, 51352613], [51353364, 51353402], [51355541, 51355621], [51368546, 51368629], [51370106, 51370185], [51370791, 51370910], [51371056, 51371688]]	[[51338892, 51338996], [51347169, 51347289], [51348313, 51348344], [51352331, 51352377], [51352483, 51352613], [51353364, 51353402], [51355541, 51355621], [51368546, 51368629], [51370106, 51370185], [51370791, 51370910], [51371056, 51371084]]
ENST00000554241	[[51338880, 51338996], [51347169, 51347289], [51348313, 51348344], [51352331, 51352377], [51352483, 51352613], [51353364, 51353402], [51355541, 51355621], [51357985, 51360287]]	None
ENST00000555292	[[51352495, 51352613], [51353364, 51353402], [51355541, 51355621], [51359930, 51360282]]	None
ENST00000556857	[[51357791, 51357821], [51368546, 51368629], [51370106, 51370185], [51370791, 51370910], [51371056, 51371549]]	None
ENST00000554566	[[51360299, 51360476], [51362281, 51362440], [51368546, 51368629], [51370106, 51370185], [51370791, 51370910], [51371056, 51371289]]	None
ENST00000553715	[[51360457, 51360476], [51368546, 51368629], [51370106, 51370185], [51370723, 51370859]]	None
NM_181814	[[51338877, 51338996], [51347169, 51347289], [51348313, 51348344], [51352331, 51352377], [51352483, 51352613], [51353364, 51353402], [51355541, 51355621], [51368546, 51368629], [51370106, 51370185], [51370791, 51370910], [51371056, 51371688]]	[[51338892, 51338996], [51347169, 51347289], [51348313, 51348344], [51352331, 51352377], [51352483, 51352613], [51353364, 51353402], [51355541, 51355621], [51368546, 51368629], [51370106, 51370185], [51370791, 51370910], [51371056, 51371084]]
NM_181533	[[51338877, 51338996], [51345462, 51345565], [51347169, 51347289], [51348313, 51348344], [51352331, 51352377], [51352483, 51352613], [51353364, 51353402], [51355541, 51355621], [51368546, 51368629], [51370106, 51370185], [51370791, 51370910], [51371056, 51371688]]	[[51345551, 51345565], [51347169, 51347289], [51348313, 51348344], [51352331, 51352377], [51352483, 51352613], [51353364, 51353402], [51355541, 51355621], [51368546, 51368629], [51370106, 51370185], [51370791, 51370910], [51371056, 51371084]]
NM_001206673	[[51338877, 51338996], [51344669, 51344797], [51345462, 51345565], [51347169, 51347289], [51348313, 51348344], [51352331, 51352377], [51352483, 51352613], [51353364, 51353402], [51355541, 51355621], [51368546, 51368629], [51370106, 51370185], [51370791, 51370910], [51371056, 51371688]]	[[51338892, 51338996], [51344669, 51344797], [51345462, 51345565], [51347169, 51347289], [51348313, 51348344], [51352331, 51352377], [51352483, 51352613], [51353364, 51353402], [51355541, 51355621], [51368546, 51368629], [51370106, 51370185], [51370791, 51370910], [51371056, 51371084]]

Promoter

Chrom	Start	End	Description
chr14	51338763	51338776	CAGE_peak_3_at_ABHD12B_5end
chr14	51338801	51338814	CAGE_peak_2_at_ABHD12B_5end
chr14	51338816	51338857	CAGE_peak_1_at_ABHD12B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I050892	50892363	50892512	0.75	[{'connected_gene': 'PYGL', 'score': 34.21}, {'connected_gene': 'NIN', 'score': 9.94}, {'connected_gene': 'ENSG00000258745', 'score': 0.37}, {'connected_gene': 'ABHD12B', 'score': 0.34}]
chr14	GH14I050925	50925560	50929270	1.07	[{'connected_gene': 'PYGL', 'score': 25.53}, {'connected_gene': 'ABHD12B', 'score': 10.68}, {'connected_gene': 'NIN', 'score': 10.4}, {'connected_gene': 'MRPL57P9', 'score': 0.44}, {'connected_gene': 'LOC105370492', 'score': 0.37}]
chr14	GH14I050896	50896816	50898964	0.31	[{'connected_gene': 'PYGL', 'score': 53.96}, {'connected_gene': 'ABHD12B', 'score': 15.9}, {'connected_gene': 'NIN', 'score': 9.83}, {'connected_gene': 'ENSG00000258745', 'score': 0.39}]
chr14	GH14I050919	50919901	50921435	0.89	[{'connected_gene': 'PYGL', 'score': 12.3}, {'connected_gene': 'ABHD12B', 'score': 4.89}, {'connected_gene': 'MRPL57P9', 'score': 0.77}, {'connected_gene': 'LOC105370492', 'score': 0.34}]
chr14	GH14I050865	50865428	50866260	0.31	[{'connected_gene': 'NIN', 'score': 11.83}, {'connected_gene': 'PYGL', 'score': 10.07}, {'connected_gene': 'ABHD12B', 'score': 6.99}, {'connected_gene': 'LOC105370491', 'score': 0.44}, {'connected_gene': 'ENSG00000258687', 'score': 0.37}]
chr14	GH14I050784	50784630	50793592	1.12	[{'connected_gene': 'NIN', 'score': 21.29}, {'connected_gene': 'ENSG00000252945', 'score': 10.75}, {'connected_gene': 'ABHD12B', 'score': 10.73}, {'connected_gene': 'SAV1', 'score': 10.63}, {'connected_gene': 'LOC105370489', 'score': 0.29}, {'connected_gene': 'GC14M050675', 'score': 0.22}]
chr14	GH14I050779	50779203	50779212	0.4	[{'connected_gene': 'NIN', 'score': 11.42}, {'connected_gene': 'ABHD12B', 'score': 10.7}, {'connected_gene': 'MAP4K5', 'score': 10.63}, {'connected_gene': 'ATL1', 'score': 10.62}, {'connected_gene': 'LOC105370489', 'score': 0.26}, {'connected_gene': 'GC14M050675', 'score': 0.25}]
chr14	GH14I050777	50777963	50778152	0.65	[{'connected_gene': 'NIN', 'score': 18.88}, {'connected_gene': 'ABHD12B', 'score': 10.7}, {'connected_gene': 'MAP4K5', 'score': 10.63}, {'connected_gene': 'ATL1', 'score': 10.62}, {'connected_gene': 'LOC105370489', 'score': 0.26}, {'connected_gene': 'GC14M050675', 'score': 0.25}]
chr14	GH14I050797	50797559	50798827	0.87	[{'connected_gene': 'NIN', 'score': 11.36}, {'connected_gene': 'ABHD12B', 'score': 10.13}, {'connected_gene': 'LOC105370489', 'score': 0.34}, {'connected_gene': 'GC14M050675', 'score': 0.2}]
chr14	GH14I050773	50773923	50776798	1.09	[{'connected_gene': 'NIN', 'score': 11.28}, {'connected_gene': 'MAP4K5', 'score': 10.72}, {'connected_gene': 'ATL1', 'score': 10.72}, {'connected_gene': 'ABHD12B', 'score': 10.16}, {'connected_gene': 'SAV1', 'score': 4.87}, {'connected_gene': 'LOC105370489', 'score': 0.25}, {'connected_gene': 'GC14M050675', 'score': 0.25}]
chr14	GH14I050874	50874653	50876046	1.08	[{'connected_gene': 'ABHD12B', 'score': 0.77}, {'connected_gene': 'ENSG00000258745', 'score': 0.28}, {'connected_gene': 'PYGL', 'score': 0.2}]
chr14	GH14I050883	50883103	50883252	0.62	[{'connected_gene': 'ABHD12B', 'score': 0.39}, {'connected_gene': 'ENSG00000258745', 'score': 0.31}, {'connected_gene': 'PYGL', 'score': 0.21}]
chr14	GH14I050871	50871801	50872545	0.81	[{'connected_gene': 'ABHD12B', 'score': 550.77}, {'connected_gene': 'NIN', 'score': 10.88}, {'connected_gene': 'ENSG00000258745', 'score': 0.26}, {'connected_gene': 'PYGL', 'score': 0.19}]
chr14	GH14I050770	50769742	50771110	0.51	[{'connected_gene': 'ABHD12B', 'score': 10.72}, {'connected_gene': 'NIN', 'score': 10.66}, {'connected_gene': 'MAP4K5', 'score': 10.08}, {'connected_gene': 'ATL1', 'score': 10.07}, {'connected_gene': 'SAV1', 'score': 9.32}, {'connected_gene': 'GC14M050675', 'score': 0.26}, {'connected_gene': 'LOC105370489', 'score': 0.23}]
chr14	GH14I050768	50768324	50769274	0.66	[{'connected_gene': 'ABHD12B', 'score': 10.72}, {'connected_gene': 'NIN', 'score': 10.66}, {'connected_gene': 'MAP4K5', 'score': 10.08}, {'connected_gene': 'ATL1', 'score': 10.07}, {'connected_gene': 'SAV1', 'score': 6.69}, {'connected_gene': 'GC14M050675', 'score': 0.28}, {'connected_gene': 'LOC105370489', 'score': 0.23}]
chr14	GH14I050769	50769363	50769516	0.4	[{'connected_gene': 'ABHD12B', 'score': 10.72}, {'connected_gene': 'NIN', 'score': 10.66}, {'connected_gene': 'MAP4K5', 'score': 10.08}, {'connected_gene': 'ATL1', 'score': 10.07}, {'connected_gene': 'GC14M050675', 'score': 0.28}, {'connected_gene': 'LOC105370489', 'score': 0.23}]
chr14	GH14I050772	50772161	50773380	0.66	[{'connected_gene': 'ABHD12B', 'score': 10.73}, {'connected_gene': 'NIN', 'score': 10.67}, {'connected_gene': 'MAP4K5', 'score': 10.08}, {'connected_gene': 'ATL1', 'score': 10.07}, {'connected_gene': 'GC14M050675', 'score': 0.26}, {'connected_gene': 'LOC105370489', 'score': 0.25}]
chr14	GH14I050766	50766053	50767207	0.4	[{'connected_gene': 'ABHD12B', 'score': 10.71}, {'connected_gene': 'NIN', 'score': 10.66}, {'connected_gene': 'MAP4K5', 'score': 10.08}, {'connected_gene': 'ATL1', 'score': 10.08}, {'connected_gene': 'GC14M050675', 'score': 0.28}, {'connected_gene': 'LOC105370489', 'score': 0.22}]
chr14	GH14I050806	50806314	50807308	0.58	[{'connected_gene': 'ABHD12B', 'score': 10.15}, {'connected_gene': 'LOC105370489', 'score': 0.37}, {'connected_gene': 'NIN', 'score': 0.34}, {'connected_gene': 'GC14M050675', 'score': 0.18}]
chr14	GH14I051543	51543716	51549497	1.24	[{'connected_gene': 'FRMD6', 'score': 5.17}, {'connected_gene': 'ABHD12B', 'score': 4.21}, {'connected_gene': 'RNU6-1291P', 'score': 0.34}, {'connected_gene': 'FRMD6-AS2', 'score': 0.23}]
chr14	GH14I051549	51549889	51551808	0.2	[{'connected_gene': 'FRMD6', 'score': 4.98}, {'connected_gene': 'ABHD12B', 'score': 4.14}, {'connected_gene': 'RNU6-1291P', 'score': 0.31}, {'connected_gene': 'FRMD6-AS2', 'score': 0.25}]
chr14	GH14I050607	50607322	50609496	0.64	[{'connected_gene': 'MAP4K5', 'score': 17.58}, {'connected_gene': 'ATL1', 'score': 13.96}, {'connected_gene': 'KLHDC1', 'score': 13.78}, {'connected_gene': 'NEMF', 'score': 10.9}, {'connected_gene': 'ABHD12B', 'score': 10.04}, {'connected_gene': 'DNAAF2', 'score': 9.72}, {'connected_gene': 'NIN', 'score': 9.62}, {'connected_gene': 'TRIM9', 'score': 4.85}, {'connected_gene': 'RN7SL452P', 'score': 0.31}, {'connected_gene': 'SNRPGP1', 'score': 0.28}]
chr14	GH14I051562	51562145	51563535	0.31	[{'connected_gene': 'RNU6-1291P', 'score': 11.15}, {'connected_gene': 'ABHD12B', 'score': 4.06}, {'connected_gene': 'FRMD6-AS2', 'score': 0.28}, {'connected_gene': 'FRMD6', 'score': 0.19}]
chr14	GH14I051448	51448345	51450170	1	[{'connected_gene': 'RNU6-1291P', 'score': 10.69}, {'connected_gene': 'FRMD6', 'score': 10.48}, {'connected_gene': 'ABHD12B', 'score': 4.69}, {'connected_gene': 'GC14P051436', 'score': 0.39}, {'connected_gene': 'SETP2', 'score': 0.39}]
chr14	GH14I051563	51563832	51566386	0.84	[{'connected_gene': 'RNU6-1291P', 'score': 11.03}, {'connected_gene': 'RNU6-301P', 'score': 9.66}, {'connected_gene': 'ABHD12B', 'score': 4.19}, {'connected_gene': 'FRMD6-AS2', 'score': 0.29}, {'connected_gene': 'FRMD6', 'score': 0.18}]
chr14	GH14I050859	50859201	50861252	1.14	[{'connected_gene': 'LOC105370491', 'score': 550.77}, {'connected_gene': 'NIN', 'score': 12.1}, {'connected_gene': 'PYGL', 'score': 10.24}, {'connected_gene': 'MAP4K5', 'score': 9.79}, {'connected_gene': 'ATL1', 'score': 9.78}, {'connected_gene': 'ABHD12B', 'score': 6.44}, {'connected_gene': 'ENSG00000258687', 'score': 0.39}]
chr14	GH14I050910	50910469	50911871	0.66	[{'connected_gene': 'ENSG00000258745', 'score': 550.77}, {'connected_gene': 'PYGL', 'score': 9.88}, {'connected_gene': 'ABHD12B', 'score': 0.28}]