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
ENST00000553025	[[110436990, 110437124], [110449809, 110449942], [110450929, 110451054], [110454192, 110454238], [110456149, 110456293], [110456943, 110457133], [110458912, 110459106], [110463546, 110463628], [110465509, 110465571], [110466316, 110466447], [110467282, 110467440], [110468449, 110468505]]	[[110450964, 110451054], [110454192, 110454238], [110456149, 110456293], [110456943, 110457133], [110458912, 110458964]]
ENST00000550404	[[110437234, 110437589], [110449809, 110449942], [110450929, 110451054], [110454192, 110454238], [110456149, 110456293], [110456943, 110457133], [110458912, 110460269]]	None
ENST00000261739	[[110437327, 110437589], [110449809, 110449942], [110450929, 110451054], [110454192, 110454238], [110456149, 110456293], [110456943, 110457133], [110461850, 110461917], [110463546, 110463628], [110465509, 110465571], [110466316, 110466447], [110467282, 110467440], [110468449, 110468563], [110471601, 110471762], [110474065, 110474133], [110475163, 110477568]]	[[110437493, 110437589], [110449809, 110449942], [110450929, 110451054], [110454192, 110454238], [110456149, 110456293], [110456943, 110457133], [110461850, 110461917], [110463546, 110463628], [110465509, 110465571], [110466316, 110466447], [110467282, 110467440], [110468449, 110468563], [110471601, 110471762], [110474065, 110474133], [110475163, 110475359]]
ENST00000547639	[[110456188, 110456293], [110456943, 110457133], [110461850, 110461917], [110463546, 110463628], [110465512, 110465571], [110466316, 110466447], [110467282, 110467440], [110468449, 110468561]]	[[110456188, 110456293], [110456943, 110457133], [110461850, 110461917], [110463546, 110463628], [110465512, 110465571], [110466316, 110466447], [110467282, 110467440], [110468449, 110468561]]
ENST00000546476	[[110461423, 110461917], [110463546, 110463628], [110465509, 110465571], [110466316, 110466447], [110467282, 110467409]]	None
ENST00000553251	[[110465703, 110466447], [110467282, 110467440], [110468449, 110468563], [110471601, 110471762], [110474065, 110474133], [110475163, 110477233]]	None
ENST00000547419	[[110466362, 110466447], [110467282, 110467440], [110468449, 110468563], [110471601, 110471736], [110475330, 110475478]]	[[110466362, 110466447], [110467282, 110467440], [110468449, 110468563], [110471601, 110471736], [110475330, 110475359]]
ENST00000549826	[[110466751, 110467440], [110468449, 110468563], [110471601, 110471762], [110474065, 110474134]]	None
ENST00000551491	[[110467355, 110467440], [110468449, 110468563], [110474065, 110474133], [110475163, 110475457]]	[[110467355, 110467440], [110468449, 110468563], [110474065, 110474118]]
ENST00000553246	[[110474019, 110474133], [110475163, 110475811]]	None
NM_033121	[[110437234, 110437589], [110449809, 110449942], [110450929, 110451054], [110454192, 110454238], [110456149, 110456293], [110456943, 110457133], [110461850, 110461917], [110463546, 110463628], [110465509, 110465571], [110466316, 110466447], [110467282, 110467440], [110468449, 110468563], [110471601, 110471762], [110474065, 110474133], [110475163, 110477237]]	[[110437493, 110437589], [110449809, 110449942], [110450929, 110451054], [110454192, 110454238], [110456149, 110456293], [110456943, 110457133], [110461850, 110461917], [110463546, 110463628], [110465509, 110465571], [110466316, 110466447], [110467282, 110467440], [110468449, 110468563], [110471601, 110471762], [110474065, 110474133], [110475163, 110475359]]

Promoter

Chrom	Start	End	Description
chr12	110437227	110437248	CAGE_peak_1_at_ANKRD13A_5end
chr12	110437336	110437358	CAGE_peak_3_at_ANKRD13A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I109963	109963851	109965064	0.76	[{'connected_gene': 'GIT2', 'score': 12.08}, {'connected_gene': 'ANKRD13A', 'score': 11.62}, {'connected_gene': 'TCHP', 'score': 11.56}, {'connected_gene': 'TRPV4', 'score': 9.74}, {'connected_gene': 'ENSG00000277299', 'score': 0.37}]
chr12	GH12I110061	110061080	110061098	0.59	[{'connected_gene': 'GIT2', 'score': 10.77}, {'connected_gene': 'ANKRD13A', 'score': 10.76}, {'connected_gene': 'TRPV4', 'score': 1.66}, {'connected_gene': 'GC12P110058', 'score': 0.77}, {'connected_gene': 'C12orf76', 'score': 0.34}]
chr12	GH12I109827	109827725	109829400	1.17	[{'connected_gene': 'GIT2', 'score': 17.39}, {'connected_gene': 'ANKRD13A', 'score': 12.43}, {'connected_gene': 'GLTP', 'score': 6.2}, {'connected_gene': 'TRPV4', 'score': 0.77}, {'connected_gene': 'MIR4497', 'score': 0.77}, {'connected_gene': 'FAM222A-AS1', 'score': 0.22}]
chr12	GH12I110084	110084663	110085394	0.38	[{'connected_gene': 'GIT2', 'score': 10.73}, {'connected_gene': 'ANKRD13A', 'score': 10.73}, {'connected_gene': 'C12orf76', 'score': 0.77}, {'connected_gene': 'LOC105369976', 'score': 0.37}]
chr12	GH12I110245	110245313	110251114	1.54	[{'connected_gene': 'GIT2', 'score': 10.88}, {'connected_gene': 'ANKRD13A', 'score': 10.88}, {'connected_gene': 'FAM216A', 'score': 9.02}, {'connected_gene': 'ATP2A2', 'score': 5.26}, {'connected_gene': 'GLTP', 'score': 4.23}, {'connected_gene': 'TRPV4', 'score': 1.27}, {'connected_gene': 'GC12P110250', 'score': 0.77}, {'connected_gene': 'GC12P110240', 'score': 0.44}]
chr12	GH12I109961	109961185	109963047	0.58	[{'connected_gene': 'GIT2', 'score': 18.39}, {'connected_gene': 'GLTP', 'score': 16.81}, {'connected_gene': 'ANKRD13A', 'score': 12.17}, {'connected_gene': 'TCHP', 'score': 11.11}, {'connected_gene': 'ENSG00000249094', 'score': 10.73}, {'connected_gene': 'ENSG00000277299', 'score': 0.39}]
chr12	GH12I110008	110008527	110009090	0.92	[{'connected_gene': 'GIT2', 'score': 6.6}, {'connected_gene': 'GLTP', 'score': 6.12}, {'connected_gene': 'ANKRD13A', 'score': 0.44}, {'connected_gene': 'ENSG00000277595', 'score': 0.34}]
chr12	GH12I109997	109997305	110006561	2.32	[{'connected_gene': 'ANKRD13A', 'score': 561.1}, {'connected_gene': 'RNU4-32P', 'score': 23.82}, {'connected_gene': 'FAM216A', 'score': 20.48}, {'connected_gene': 'ARPC3', 'score': 17.28}, {'connected_gene': 'IFT81', 'score': 11.76}, {'connected_gene': 'GLTP', 'score': 7.06}, {'connected_gene': 'GIT2', 'score': 6.64}, {'connected_gene': 'C12orf76', 'score': 5.57}, {'connected_gene': 'ENSG00000280426', 'score': 0.77}, {'connected_gene': 'ENSG00000277595', 'score': 0.29}]
chr12	GH12I110007	110007800	110008201	0.6	[{'connected_gene': 'ANKRD13A', 'score': 0.44}, {'connected_gene': 'ENSG00000277595', 'score': 0.34}]
chr12	GH12I109475	109475585	109478601	2.29	[{'connected_gene': 'KCTD10', 'score': 576.68}, {'connected_gene': 'UBE3B', 'score': 570.86}, {'connected_gene': 'IFT81', 'score': 39.67}, {'connected_gene': 'ALKBH2', 'score': 38.97}, {'connected_gene': 'SART3', 'score': 28.87}, {'connected_gene': 'RNU4-32P', 'score': 21.91}, {'connected_gene': 'FAM216A', 'score': 20.46}, {'connected_gene': 'USP30', 'score': 19.83}, {'connected_gene': 'ARPC3', 'score': 12.87}, {'connected_gene': 'ANKRD13A', 'score': 10.36}, {'connected_gene': 'MYO1H', 'score': 7.99}, {'connected_gene': 'ENSG00000255655', 'score': 0.31}]
chr12	GH12I109966	109966281	109969085	0.79	[{'connected_gene': 'TRPV4', 'score': 15.97}, {'connected_gene': 'GIT2', 'score': 12.43}, {'connected_gene': 'ANKRD13A', 'score': 12.23}, {'connected_gene': 'TCHP', 'score': 11.55}, {'connected_gene': 'C12orf76', 'score': 10.18}, {'connected_gene': 'GLTP', 'score': 5.93}, {'connected_gene': 'ENSG00000277299', 'score': 0.37}]
chr12	GH12I110014	110014726	110016293	0.86	[{'connected_gene': 'TRPV4', 'score': 6.78}, {'connected_gene': 'ANKRD13A', 'score': 0.37}, {'connected_gene': 'ENSG00000277595', 'score': 0.37}]
chr12	GH12I110021	110021674	110025783	1.14	[{'connected_gene': 'TRPV4', 'score': 7.85}, {'connected_gene': 'GLTP', 'score': 4.88}, {'connected_gene': 'ENSG00000277595', 'score': 0.44}, {'connected_gene': 'ANKRD13A', 'score': 0.34}]
chr12	GH12I110499	110499048	110503028	2.13	[{'connected_gene': 'VPS29', 'score': 550.77}, {'connected_gene': 'RAD9B', 'score': 550.77}, {'connected_gene': 'ENSG00000278993', 'score': 550.77}, {'connected_gene': 'IFT81', 'score': 51.74}, {'connected_gene': 'ARPC3', 'score': 23.57}, {'connected_gene': 'FAM216A', 'score': 23.52}, {'connected_gene': 'ANAPC7', 'score': 19.92}, {'connected_gene': 'GPN3', 'score': 11.53}, {'connected_gene': 'RNU4-32P', 'score': 10.98}, {'connected_gene': 'HSPA8P14', 'score': 10.97}, {'connected_gene': 'ANKRD13A', 'score': 10.95}, {'connected_gene': 'TCHP', 'score': 9.69}, {'connected_gene': 'GC12M110497', 'score': 0.77}, {'connected_gene': 'ENSG00000202335', 'score': 0.77}]
chr12	GH12I110026	110026575	110027567	0.51	[{'connected_gene': 'GLTP', 'score': 4.38}, {'connected_gene': 'ENSG00000277595', 'score': 0.44}, {'connected_gene': 'ANKRD13A', 'score': 0.31}, {'connected_gene': 'C12orf76', 'score': 0.22}]
chr12	GH12I110009	110009257	110009994	0.49	[{'connected_gene': 'GLTP', 'score': 4.14}, {'connected_gene': 'ANKRD13A', 'score': 0.39}, {'connected_gene': 'ENSG00000277595', 'score': 0.34}]
chr12	GH12I109878	109878836	109882221	2.41	[{'connected_gene': 'GLTP', 'score': 565.03}, {'connected_gene': 'TCHP', 'score': 550.77}, {'connected_gene': 'ENSG00000249094', 'score': 550.77}, {'connected_gene': 'RNU4-32P', 'score': 11.47}, {'connected_gene': 'KCTD10', 'score': 11.15}, {'connected_gene': 'IFT81', 'score': 10.62}, {'connected_gene': 'ANKRD13A', 'score': 10.46}, {'connected_gene': 'PPP1CC', 'score': 10.14}, {'connected_gene': 'FAM216A', 'score': 9.89}, {'connected_gene': 'UBE3B', 'score': 9.72}, {'connected_gene': 'ALKBH2', 'score': 9.66}, {'connected_gene': 'C12orf76', 'score': 3.73}, {'connected_gene': 'FAM222A', 'score': 1.27}]
chr12	GH12I110010	110010002	110013553	1.25	[{'connected_gene': 'GLTP', 'score': 12.86}, {'connected_gene': 'TRPV4', 'score': 7.86}, {'connected_gene': 'GIT2', 'score': 6.57}, {'connected_gene': 'C12orf76', 'score': 5.67}, {'connected_gene': 'ANKRD13A', 'score': 0.39}, {'connected_gene': 'ENSG00000277595', 'score': 0.34}]
chr12	GH12I110052	110052077	110053063	0.31	[{'connected_gene': 'C12orf76', 'score': 17.92}, {'connected_gene': 'ANKRD13A', 'score': 11.49}, {'connected_gene': 'GIT2', 'score': 11.48}, {'connected_gene': 'TRPV4', 'score': 7.48}, {'connected_gene': 'GLTP', 'score': 5.97}, {'connected_gene': 'ENSG00000279360', 'score': 0.77}, {'connected_gene': 'GC12P110049', 'score': 0.77}]
chr12	GH12I110047	110046516	110046665	0.79	[{'connected_gene': 'C12orf76', 'score': 12.3}, {'connected_gene': 'ANKRD13A', 'score': 11.98}, {'connected_gene': 'GIT2', 'score': 11.97}, {'connected_gene': 'GC12P110049', 'score': 0.77}, {'connected_gene': 'PIR31988', 'score': 0.44}]
chr12	GH12I110019	110019406	110021553	0.31	[{'connected_gene': 'C12orf76', 'score': 5.61}, {'connected_gene': 'ENSG00000277595', 'score': 0.39}, {'connected_gene': 'ANKRD13A', 'score': 0.34}]
chr12	GH12I109091	109091813	109094160	2.11	[{'connected_gene': 'ALKBH2', 'score': 559.85}, {'connected_gene': 'SART3', 'score': 36.93}, {'connected_gene': 'RNU4-32P', 'score': 20.96}, {'connected_gene': 'ACACB', 'score': 13.11}, {'connected_gene': 'UBE3B', 'score': 10.45}, {'connected_gene': 'ANKRD13A', 'score': 10.24}, {'connected_gene': 'GC12M109089', 'score': 0.37}, {'connected_gene': 'RNA5SP372', 'score': 0.29}, {'connected_gene': 'GC12P109058', 'score': 0.28}, {'connected_gene': 'GC12P109057', 'score': 0.28}]
chr12	GH12I110384	110384044	110385227	0.49	[{'connected_gene': 'ARPC3', 'score': 13.15}, {'connected_gene': 'GPN3', 'score': 11.4}, {'connected_gene': 'ANKRD13A', 'score': 11.29}, {'connected_gene': 'GIT2', 'score': 11.29}, {'connected_gene': 'C12orf76', 'score': 10.32}, {'connected_gene': 'GLTP', 'score': 4.31}, {'connected_gene': 'IFT81', 'score': 4.07}, {'connected_gene': 'PIR50264', 'score': 0.39}, {'connected_gene': 'PIR42470', 'score': 0.39}, {'connected_gene': 'ANAPC7', 'score': 0.37}]
chr12	GH12I110059	110059782	110060866	1.4	[{'connected_gene': 'GC12P110058', 'score': 550.77}, {'connected_gene': 'GIT2', 'score': 10.77}, {'connected_gene': 'ANKRD13A', 'score': 10.76}, {'connected_gene': 'ALKBH2', 'score': 9.67}, {'connected_gene': 'TRPV4', 'score': 7.14}, {'connected_gene': 'GLTP', 'score': 7.04}, {'connected_gene': 'C12orf76', 'score': 0.34}]
chr12	GH12I110223	110223289	110225611	1.18	[{'connected_gene': 'GC12P110223', 'score': 550.77}, {'connected_gene': 'GC12P110225', 'score': 550.77}, {'connected_gene': 'GC12P110226', 'score': 550.77}, {'connected_gene': 'ANKRD13A', 'score': 11.05}, {'connected_gene': 'GIT2', 'score': 11.05}, {'connected_gene': 'GLTP', 'score': 9.72}, {'connected_gene': 'FAM216A', 'score': 8.69}, {'connected_gene': 'ATP2A2', 'score': 5.33}]
chr12	GH12I110036	110036774	110044235	1.41	[{'connected_gene': 'PIR31988', 'score': 550.77}, {'connected_gene': 'TRPV4', 'score': 17.43}, {'connected_gene': 'IFT81', 'score': 16.16}, {'connected_gene': 'ALKBH2', 'score': 13.12}, {'connected_gene': 'GIT2', 'score': 12.51}, {'connected_gene': 'ANKRD13A', 'score': 12.3}, {'connected_gene': 'C12orf76', 'score': 12.29}, {'connected_gene': 'RNU4-32P', 'score': 9.75}, {'connected_gene': 'TCTN1', 'score': 9.7}, {'connected_gene': 'GLTP', 'score': 5.98}, {'connected_gene': 'PIR56187', 'score': 0.77}, {'connected_gene': 'GC12P110040', 'score': 0.77}, {'connected_gene': 'GC12P110049', 'score': 0.44}]
chr12	GH12I110056	110056922	110058056	0.38	[{'connected_gene': 'ENSG00000279360', 'score': 550.77}, {'connected_gene': 'GC12P110058', 'score': 550.77}, {'connected_gene': 'GLTP', 'score': 16.66}, {'connected_gene': 'ANKRD13A', 'score': 11.34}, {'connected_gene': 'GIT2', 'score': 11.32}, {'connected_gene': 'C12orf76', 'score': 5.59}]
chr12	GH12I110054	110054881	110056777	1.34	[{'connected_gene': 'ENSG00000279360', 'score': 550.77}, {'connected_gene': 'C12orf76', 'score': 12.48}, {'connected_gene': 'GIT2', 'score': 11.48}, {'connected_gene': 'ANKRD13A', 'score': 11.48}, {'connected_gene': 'GLTP', 'score': 6.37}, {'connected_gene': 'GC12P110049', 'score': 0.44}]
chr12	GH12I110046	110046866	110049920	1.82	[{'connected_gene': 'GC12P110049', 'score': 550.77}, {'connected_gene': 'C12orf76', 'score': 18.32}, {'connected_gene': 'RNU4-32P', 'score': 12.13}, {'connected_gene': 'ANKRD13A', 'score': 11.98}, {'connected_gene': 'GIT2', 'score': 11.97}, {'connected_gene': 'TRPV4', 'score': 7.51}, {'connected_gene': 'GLTP', 'score': 5.87}, {'connected_gene': 'PIR31988', 'score': 0.44}]