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
ENST00000264908	[[79472672, 79473013], [79475589, 79475642], [79494333, 79494421], [79500180, 79500275], [79503330, 79503444], [79507413, 79507504], [79512697, 79512777], [79516534, 79516591], [79516947, 79517041], [79518472, 79518568], [79522663, 79522722], [79525430, 79525553], [79531209, 79531575]]	[[79475627, 79475642], [79494333, 79494421], [79500180, 79500275], [79503330, 79503444], [79507413, 79507504], [79512697, 79512777], [79516534, 79516591], [79516947, 79517041], [79518472, 79518568], [79522663, 79522722], [79525430, 79525553], [79531209, 79531269]]
ENST00000512884	[[79472900, 79473013], [79475589, 79475642], [79500180, 79500275], [79503330, 79503444], [79507413, 79507504], [79512697, 79512777], [79516534, 79516591], [79516947, 79517041], [79518472, 79518568], [79522663, 79522722], [79525430, 79525553], [79531209, 79531569]]	[[79500194, 79500275], [79503330, 79503444], [79507413, 79507504], [79512697, 79512777], [79516534, 79516591], [79516947, 79517041], [79518472, 79518568], [79522663, 79522722], [79525430, 79525553], [79531209, 79531269]]
ENST00000512542	[[79472910, 79473013], [79475589, 79475642], [79516534, 79516591], [79516947, 79517041]]	[[79475627, 79475642], [79516534, 79516591], [79516947, 79517041]]
ENST00000503570	[[79472911, 79473013], [79475589, 79475642], [79492186, 79492327], [79494333, 79494421], [79500180, 79500275], [79503330, 79503444], [79507413, 79507504], [79512697, 79512777], [79516534, 79516591], [79516947, 79517041], [79518472, 79518568], [79522663, 79522722], [79525430, 79525553], [79531209, 79531540]]	[[79500194, 79500275], [79503330, 79503444], [79507413, 79507504], [79512697, 79512777], [79516534, 79516591], [79516947, 79517041], [79518472, 79518568], [79522663, 79522722], [79525430, 79525553], [79531209, 79531269]]
ENST00000510502	[[79472923, 79473013], [79475589, 79475642], [79494333, 79494421], [79500180, 79500275], [79503330, 79503575]]	None
ENST00000512373	[[79472980, 79473013], [79473338, 79473499], [79475589, 79475642], [79494333, 79494421], [79500180, 79500275], [79503330, 79503445]]	[[79475627, 79475642], [79494333, 79494421], [79500180, 79500275], [79503330, 79503445]]
ENST00000514171	[[79473120, 79473499], [79475589, 79475642], [79494333, 79494421], [79500180, 79500275], [79503330, 79503444], [79507413, 79507504], [79512697, 79512757]]	[[79475627, 79475642], [79494333, 79494421], [79500180, 79500275], [79503330, 79503444], [79507413, 79507504], [79512697, 79512757]]
ENST00000508214	[[79475073, 79475199], [79475589, 79475642], [79494333, 79494421], [79500180, 79500275], [79503330, 79503444], [79507413, 79507504]]	[[79475627, 79475642], [79494333, 79494421], [79500180, 79500275], [79503330, 79503444], [79507413, 79507504]]
ENST00000505805	[[79518226, 79518568], [79522663, 79522722], [79525430, 79525553], [79531209, 79531517]]	None
ENST00000503776	[[79523017, 79525553], [79531209, 79531597]]	None
NM_005139	[[79472741, 79473013], [79475589, 79475642], [79494333, 79494421], [79500180, 79500275], [79503330, 79503444], [79507413, 79507504], [79512697, 79512777], [79516534, 79516591], [79516947, 79517041], [79518472, 79518568], [79522663, 79522722], [79525430, 79525553], [79531209, 79531605]]	[[79475627, 79475642], [79494333, 79494421], [79500180, 79500275], [79503330, 79503444], [79507413, 79507504], [79512697, 79512777], [79516534, 79516591], [79516947, 79517041], [79518472, 79518568], [79522663, 79522722], [79525430, 79525553], [79531209, 79531269]]

Promoter

Chrom	Start	End	Description
chr4	79472768	79472779	CAGE_peak_4_at_ANXA3_5end
chr4	79472785	79472796	CAGE_peak_3_at_ANXA3_5end
chr4	79472888	79472970	CAGE_peak_1_at_ANXA3_5end
chr4	79472975	79472986	CAGE_peak_2_at_ANXA3_5end
chr4	79475019	79475042	CAGE_peak_6_at_ANXA3_5end
chr4	79475120	79475133	CAGE_peak_5_at_ANXA3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I078423	78423544	78425740	0.2	[{'connected_gene': 'FRAS1', 'score': 24.21}, {'connected_gene': 'ANXA3', 'score': 8.4}, {'connected_gene': 'GC04P078388', 'score': 0.28}, {'connected_gene': 'GC04M078476', 'score': 0.23}]
chr4	GH04I078529	78529124	78530449	0.86	[{'connected_gene': 'FRAS1', 'score': 19.17}, {'connected_gene': 'ANXA3', 'score': 14.64}, {'connected_gene': 'GC04M078509', 'score': 0.37}, {'connected_gene': 'GC04P078478', 'score': 0.23}]
chr4	GH04I078533	78533333	78535946	0.74	[{'connected_gene': 'FRAS1', 'score': 22.58}, {'connected_gene': 'ANXA3', 'score': 0.37}, {'connected_gene': 'GC04M078509', 'score': 0.34}, {'connected_gene': 'GC04P078478', 'score': 0.22}]
chr4	GH04I078512	78512219	78513737	0.77	[{'connected_gene': 'FRAS1', 'score': 8.83}, {'connected_gene': 'GC04M078509', 'score': 0.77}, {'connected_gene': 'GC04P078478', 'score': 0.29}, {'connected_gene': 'ANXA3', 'score': 0.28}]
chr4	GH04I078621	78621414	78631960	1.68	[{'connected_gene': 'BMP2K', 'score': 18.44}, {'connected_gene': 'CNOT6L', 'score': 11.51}, {'connected_gene': 'RPS21P3', 'score': 11.43}, {'connected_gene': 'LINC01094', 'score': 8.57}, {'connected_gene': 'LINC01088', 'score': 5.68}, {'connected_gene': 'GC04M078633', 'score': 0.44}, {'connected_gene': 'ENSG00000200998', 'score': 0.44}, {'connected_gene': 'ANXA3', 'score': 0.18}]
chr4	GH04I078616	78616053	78616836	1.28	[{'connected_gene': 'BMP2K', 'score': 24.72}, {'connected_gene': 'RPS21P3', 'score': 11.73}, {'connected_gene': 'GC04M078633', 'score': 0.37}, {'connected_gene': 'ENSG00000200998', 'score': 0.37}, {'connected_gene': 'ANXA3', 'score': 0.21}]
chr4	GH04I078613	78613254	78614591	1.29	[{'connected_gene': 'BMP2K', 'score': 17.71}, {'connected_gene': 'RPS21P3', 'score': 11.73}, {'connected_gene': 'LINC01094', 'score': 9.11}, {'connected_gene': 'GC04M078633', 'score': 0.37}, {'connected_gene': 'ENSG00000200998', 'score': 0.37}, {'connected_gene': 'ANXA3', 'score': 0.21}]
chr4	GH04I078181	78181601	78182201	0.5	[{'connected_gene': 'SERBP1P5', 'score': 550.77}, {'connected_gene': 'ANXA3', 'score': 5.15}, {'connected_gene': 'FRAS1', 'score': 4.5}, {'connected_gene': 'GC04M078160', 'score': 0.37}]
chr4	GH04I078480	78480159	78483266	0.52	[{'connected_gene': 'ANXA3', 'score': 12.23}, {'connected_gene': 'FRAS1', 'score': 11.92}, {'connected_gene': 'GC04P078478', 'score': 0.77}, {'connected_gene': 'GC04M078509', 'score': 0.31}]
chr4	GH04I078550	78550871	78554628	2.38	[{'connected_gene': 'ANXA3', 'score': 582.23}, {'connected_gene': 'FRAS1', 'score': 4.03}, {'connected_gene': 'GC04P078478', 'score': 0.19}, {'connected_gene': 'GC04M078633', 'score': 0.18}, {'connected_gene': 'ENSG00000200998', 'score': 0.18}]
chr4	GH04I078545	78545558	78546747	0.43	[{'connected_gene': 'ANXA3', 'score': 30.6}, {'connected_gene': 'FRAS1', 'score': 6.78}, {'connected_gene': 'GC04M078509', 'score': 0.28}, {'connected_gene': 'GC04P078478', 'score': 0.2}]
chr4	GH04I078542	78542043	78544338	0.74	[{'connected_gene': 'ANXA3', 'score': 20.16}, {'connected_gene': 'GC04M078509', 'score': 0.29}, {'connected_gene': 'GC04P078478', 'score': 0.21}, {'connected_gene': 'FRAS1', 'score': 0.04}]
chr4	GH04I078591	78591947	78592096	0.49	[{'connected_gene': 'ANXA3', 'score': 7.37}, {'connected_gene': 'GC04M078633', 'score': 0.26}, {'connected_gene': 'ENSG00000200998', 'score': 0.26}]
chr4	GH04I078555	78555061	78562536	1.16	[{'connected_gene': 'ANXA3', 'score': 13.58}, {'connected_gene': 'ENSG00000200998', 'score': 10.06}, {'connected_gene': 'GC04M078633', 'score': 0.19}, {'connected_gene': 'GC04P078478', 'score': 0.18}]
chr4	GH04I078546	78545347	78545556	0.63	[{'connected_gene': 'ANXA3', 'score': 20.83}, {'connected_gene': 'GC04M078509', 'score': 0.28}, {'connected_gene': 'GC04P078478', 'score': 0.2}]
chr4	GH04I078563	78563751	78570701	1.24	[{'connected_gene': 'ANXA3', 'score': 11.85}, {'connected_gene': 'ENSG00000200998', 'score': 10.03}, {'connected_gene': 'GC04M078633', 'score': 0.2}]
chr4	GH04I079378	79378640	79382452	0.31	[{'connected_gene': 'GK2', 'score': 12.58}, {'connected_gene': 'NAA11', 'score': 4.85}, {'connected_gene': 'ANXA3', 'score': 4.27}, {'connected_gene': 'LOC105377300', 'score': 0.77}]
chr4	GH04I078617	78617591	78620154	0.49	[{'connected_gene': 'LINC01094', 'score': 8.17}, {'connected_gene': 'BMP2K', 'score': 7.09}, {'connected_gene': 'GC04M078633', 'score': 0.39}, {'connected_gene': 'ENSG00000200998', 'score': 0.39}, {'connected_gene': 'ANXA3', 'score': 0.2}]
chr4	GH04I078612	78612401	78612800	1.08	[{'connected_gene': 'LINC01094', 'score': 9.18}, {'connected_gene': 'GC04M078633', 'score': 0.37}, {'connected_gene': 'ENSG00000200998', 'score': 0.37}, {'connected_gene': 'ANXA3', 'score': 0.21}]
chr4	GH04I078380	78380487	78380636	0.2	[{'connected_gene': 'MINOS1P4', 'score': 550.77}, {'connected_gene': 'ANXA3', 'score': 8.23}, {'connected_gene': 'GC04P078388', 'score': 0.44}, {'connected_gene': 'FRAS1', 'score': 0.05}]
chr4	GH04I078379	78379838	78380478	0.2	[{'connected_gene': 'MINOS1P4', 'score': 550.77}, {'connected_gene': 'ANXA3', 'score': 12.26}, {'connected_gene': 'GC04P078388', 'score': 0.44}, {'connected_gene': 'FRAS1', 'score': 0.05}]
chr4	GH04I078605	78605783	78606607	0.38	[{'connected_gene': 'ENSG00000200998', 'score': 11.19}, {'connected_gene': 'BMP2K', 'score': 3.96}, {'connected_gene': 'GC04M078633', 'score': 0.31}, {'connected_gene': 'ANXA3', 'score': 0.23}]
chr4	GH04I078596	78596287	78596416	0.46	[{'connected_gene': 'ENSG00000200998', 'score': 10.92}, {'connected_gene': 'GC04M078633', 'score': 0.28}, {'connected_gene': 'ANXA3', 'score': 0.26}]
chr4	GH04I078609	78609213	78609523	0.66	[{'connected_gene': 'ENSG00000200998', 'score': 11.93}, {'connected_gene': 'GC04M078633', 'score': 0.34}, {'connected_gene': 'ANXA3', 'score': 0.22}]
chr4	GH04I078610	78610134	78611299	1.12	[{'connected_gene': 'ENSG00000200998', 'score': 11.93}, {'connected_gene': 'LINC01094', 'score': 9.07}, {'connected_gene': 'BMP2K', 'score': 5.9}, {'connected_gene': 'GC04M078633', 'score': 0.34}, {'connected_gene': 'ANXA3', 'score': 0.22}]