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
ENST00000530717	[[369795, 369954], [372108, 372212], [372661, 372807]]	None
ENST00000329962	[[369803, 369954], [372108, 372212], [372661, 372754], [372851, 372947], [373025, 373116], [373190, 373291], [373448, 373516], [373749, 373828], [375460, 375527], [375638, 375773], [375846, 375956], [376073, 376174], [376250, 376351], [376420, 377327], [379417, 379701], [379865, 380019], [380129, 380202], [380291, 380445], [380824, 380951], [381668, 382116]]	[[369803, 369954], [372108, 372212], [372661, 372754], [372851, 372947], [373025, 373116], [373190, 373291], [373448, 373516], [373749, 373828], [375460, 375527], [375638, 375773], [375846, 375956], [376073, 376174], [376250, 376351], [376420, 377327], [379417, 379701], [379865, 380019], [380129, 380202], [380291, 380445], [380824, 380951], [381668, 381792]]
ENST00000524443	[[375460, 375527], [375638, 375956], [376073, 376108]]	None
ENST00000526584	[[379981, 380019], [380100, 380202], [380291, 380445], [380824, 380951], [381668, 381671]]	[[379981, 380019], [380100, 380143]]
ENST00000534778	[[380291, 380445], [380670, 380951], [381668, 382109]]	[[380291, 380445], [380670, 380678]]
NM_178537	[[369794, 369954], [372108, 372212], [372661, 372754], [372851, 372947], [373025, 373116], [373190, 373291], [373448, 373516], [373749, 373828], [375460, 375527], [375638, 375773], [375846, 375956], [376073, 376174], [376250, 376351], [376420, 377327], [379417, 379701], [379865, 380019], [380129, 380202], [380291, 380445], [380824, 380951], [381668, 382117]]	[[369803, 369954], [372108, 372212], [372661, 372754], [372851, 372947], [373025, 373116], [373190, 373291], [373448, 373516], [373749, 373828], [375460, 375527], [375638, 375773], [375846, 375956], [376073, 376174], [376250, 376351], [376420, 377327], [379417, 379701], [379865, 380019], [380129, 380202], [380291, 380445], [380824, 380951], [381668, 381792]]

Promoter

Chrom	Start	End	Description
chr11	369462	369546	CAGE_peak_1_at_B4GALNT4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I000352	352222	356950	1.57	[{'connected_gene': 'IFITM1', 'score': 27.33}, {'connected_gene': 'ENSG00000251661', 'score': 18.65}, {'connected_gene': 'PGGHG', 'score': 16.31}, {'connected_gene': 'TSPAN4', 'score': 15.23}, {'connected_gene': 'LOC105376505', 'score': 13.12}, {'connected_gene': 'IFITM3', 'score': 13.12}, {'connected_gene': 'ENSG00000255089', 'score': 13.1}, {'connected_gene': 'ENSG00000254910', 'score': 13.07}, {'connected_gene': 'TMEM80', 'score': 12.57}, {'connected_gene': 'ENSG00000255026', 'score': 12.12}, {'connected_gene': 'NLRP6', 'score': 12.1}, {'connected_gene': 'SNORA52', 'score': 11.98}, {'connected_gene': 'PHRF1', 'score': 11.79}, {'connected_gene': 'BET1L', 'score': 11.06}, {'connected_gene': 'ENSG00000255237', 'score': 10.56}, {'connected_gene': 'PIDD1', 'score': 10.06}, {'connected_gene': 'B4GALNT4', 'score': 7.1}, {'connected_gene': 'IFITM2', 'score': 5.01}, {'connected_gene': 'CEND1', 'score': 1.96}, {'connected_gene': 'ENSG00000270972', 'score': 0.34}]
chr11	GH11I000839	839992	847569	2.25	[{'connected_gene': 'TSPAN4', 'score': 574.81}, {'connected_gene': 'POLR2L', 'score': 556.07}, {'connected_gene': 'GC11M000841', 'score': 550.77}, {'connected_gene': 'CD151', 'score': 50.69}, {'connected_gene': 'SNORA52', 'score': 29.58}, {'connected_gene': 'RPLP2', 'score': 26.64}, {'connected_gene': 'TMEM80', 'score': 25.95}, {'connected_gene': 'PIDD1', 'score': 23.35}, {'connected_gene': 'RIC8A', 'score': 21.73}, {'connected_gene': 'BET1L', 'score': 15.48}, {'connected_gene': 'ENSG00000255237', 'score': 13.61}, {'connected_gene': 'B4GALNT4', 'score': 13.27}, {'connected_gene': 'PHRF1', 'score': 12.95}, {'connected_gene': 'BRSK2', 'score': 11.54}, {'connected_gene': 'GATD1', 'score': 11.33}, {'connected_gene': 'SLC25A22', 'score': 11.33}, {'connected_gene': 'AP2A2', 'score': 11.32}, {'connected_gene': 'CEND1', 'score': 11.31}, {'connected_gene': 'ENSG00000255158', 'score': 10.55}, {'connected_gene': 'DEAF1', 'score': 9.95}, {'connected_gene': 'CHID1', 'score': 5.18}, {'connected_gene': 'PIR52875', 'score': 0.77}, {'connected_gene': 'ENSG00000250397', 'score': 0.37}]
chr11	GH11I000386	386932	387750	0.52	[{'connected_gene': 'SIGIRR', 'score': 19.8}, {'connected_gene': 'SIRT3', 'score': 11.69}, {'connected_gene': 'PSMD13', 'score': 11.69}, {'connected_gene': 'PKP3', 'score': 8.55}, {'connected_gene': 'GC11P000389', 'score': 0.77}, {'connected_gene': 'B4GALNT4', 'score': 0.37}]
chr11	GH11I000368	368565	371174	1.76	[{'connected_gene': 'B4GALNT4', 'score': 558.2}, {'connected_gene': 'SIGIRR', 'score': 5.64}, {'connected_gene': 'RPLP2', 'score': 4.74}, {'connected_gene': 'LOC692247', 'score': 4.65}, {'connected_gene': 'GC11P000389', 'score': 0.37}]
chr11	GH11I001202	1202271	1202380	0.58	[{'connected_gene': 'B4GALNT4', 'score': 4.94}, {'connected_gene': 'GC11M001206', 'score': 0.44}, {'connected_gene': 'MUC5AC', 'score': 0.26}]
chr11	GH11I001193	1193062	1194383	0.38	[{'connected_gene': 'B4GALNT4', 'score': 5.05}, {'connected_gene': 'GC11M001206', 'score': 0.39}, {'connected_gene': 'MUC5AC', 'score': 0.28}]
chr11	GH11I000359	359401	359592	0.31	[{'connected_gene': 'B4GALNT4', 'score': 7.81}, {'connected_gene': 'ENSG00000270972', 'score': 0.31}]
chr11	GH11I000373	373847	374636	0.72	[{'connected_gene': 'B4GALNT4', 'score': 0.77}, {'connected_gene': 'GC11P000389', 'score': 0.37}]
chr11	GH11I000364	364052	365457	0.97	[{'connected_gene': 'B4GALNT4', 'score': 12.2}, {'connected_gene': 'ENSG00000270972', 'score': 0.29}]
chr11	GH11I000369	368221	368370	0.43	[{'connected_gene': 'B4GALNT4', 'score': 550.77}, {'connected_gene': 'ENSG00000270972', 'score': 0.28}]
chr11	GH11I000468	468188	470722	1.59	[{'connected_gene': 'HRAS', 'score': 11.17}, {'connected_gene': 'CEND1', 'score': 2.36}, {'connected_gene': 'B4GALNT4', 'score': 2.12}, {'connected_gene': 'ENSG00000255237', 'score': 0.44}, {'connected_gene': 'PTDSS2', 'score': 0.34}, {'connected_gene': 'GC11P000498', 'score': 0.31}]
chr11	GH11I000824	824121	830480	2.19	[{'connected_gene': 'CRACR2B', 'score': 559.51}, {'connected_gene': 'PIR51142', 'score': 550.77}, {'connected_gene': 'CD151', 'score': 41.24}, {'connected_gene': 'ENSG00000255108', 'score': 27.84}, {'connected_gene': 'RPLP2', 'score': 21.01}, {'connected_gene': 'LOC171391', 'score': 6.85}, {'connected_gene': 'CHID1', 'score': 4.87}, {'connected_gene': 'POLR2L', 'score': 4.69}, {'connected_gene': 'B4GALNT4', 'score': 4.26}, {'connected_gene': 'PNPLA2', 'score': 0.44}]
chr11	GH11I000349	349330	351662	1.13	[{'connected_gene': 'IFITM3', 'score': 13.15}, {'connected_gene': 'LOC105376505', 'score': 13.15}, {'connected_gene': 'ENSG00000255089', 'score': 13.12}, {'connected_gene': 'ENSG00000251661', 'score': 13.1}, {'connected_gene': 'IFITM1', 'score': 13.09}, {'connected_gene': 'ENSG00000254910', 'score': 13.09}, {'connected_gene': 'ENSG00000255026', 'score': 12.12}, {'connected_gene': 'PGGHG', 'score': 12.12}, {'connected_gene': 'NLRP6', 'score': 12.11}, {'connected_gene': 'OR4F2P', 'score': 4.92}, {'connected_gene': 'RNH1', 'score': 4.8}, {'connected_gene': 'B4GALNT4', 'score': 0.37}, {'connected_gene': 'ENSG00000270972', 'score': 0.37}]
chr11	GH11I000341	340891	342167	1.06	[{'connected_gene': 'ENSG00000251661', 'score': 18.41}, {'connected_gene': 'IFITM1', 'score': 12.51}, {'connected_gene': 'ENSG00000254910', 'score': 12.49}, {'connected_gene': 'ENSG00000255026', 'score': 11.66}, {'connected_gene': 'PGGHG', 'score': 11.66}, {'connected_gene': 'NLRP6', 'score': 11.64}, {'connected_gene': 'ENSG00000254559', 'score': 11.17}, {'connected_gene': 'ODF3', 'score': 11.16}, {'connected_gene': 'SCGB1C1', 'score': 11.16}, {'connected_gene': 'PHRF1', 'score': 9.8}, {'connected_gene': 'ENSG00000270972', 'score': 0.44}, {'connected_gene': 'B4GALNT4', 'score': 0.31}]
chr11	GH11I000342	342441	342565	0.46	[{'connected_gene': 'ENSG00000251661', 'score': 12.54}, {'connected_gene': 'ENSG00000255089', 'score': 12.54}, {'connected_gene': 'IFITM1', 'score': 12.51}, {'connected_gene': 'ENSG00000254910', 'score': 12.49}, {'connected_gene': 'PGGHG', 'score': 11.66}, {'connected_gene': 'ENSG00000255026', 'score': 11.65}, {'connected_gene': 'NLRP6', 'score': 11.64}, {'connected_gene': 'ENSG00000254559', 'score': 11.17}, {'connected_gene': 'ODF3', 'score': 11.17}, {'connected_gene': 'SCGB1C1', 'score': 11.16}, {'connected_gene': 'ENSG00000270972', 'score': 0.44}, {'connected_gene': 'B4GALNT4', 'score': 0.31}]
chr11	GH11I000340	340641	340830	0.49	[{'connected_gene': 'ENSG00000251661', 'score': 12.54}, {'connected_gene': 'IFITM1', 'score': 12.51}, {'connected_gene': 'ENSG00000254910', 'score': 12.51}, {'connected_gene': 'ENSG00000255026', 'score': 11.66}, {'connected_gene': 'PGGHG', 'score': 11.66}, {'connected_gene': 'NLRP6', 'score': 11.64}, {'connected_gene': 'ENSG00000254559', 'score': 11.17}, {'connected_gene': 'ODF3', 'score': 11.16}, {'connected_gene': 'SCGB1C1', 'score': 11.16}, {'connected_gene': 'ENSG00000270972', 'score': 0.44}, {'connected_gene': 'B4GALNT4', 'score': 0.31}]
chr11	GH11I000334	333336	333390	0.82	[{'connected_gene': 'ENSG00000270972', 'score': 550.77}, {'connected_gene': 'ENSG00000270030', 'score': 26.18}, {'connected_gene': 'ENSG00000255026', 'score': 12.03}, {'connected_gene': 'PGGHG', 'score': 12.03}, {'connected_gene': 'NLRP6', 'score': 12.01}, {'connected_gene': 'PHRF1', 'score': 10.99}, {'connected_gene': 'ENSG00000255142', 'score': 10.33}, {'connected_gene': 'PIDD1', 'score': 9.91}, {'connected_gene': 'B4GALNT4', 'score': 0.28}]
chr11	GH11I000333	333646	337976	1.46	[{'connected_gene': 'ENSG00000255026', 'score': 12.03}, {'connected_gene': 'PGGHG', 'score': 12.03}, {'connected_gene': 'NLRP6', 'score': 12.0}, {'connected_gene': 'LOC105376505', 'score': 11.51}, {'connected_gene': 'ENSG00000251661', 'score': 8.8}, {'connected_gene': 'ENSG00000270972', 'score': 5.15}, {'connected_gene': 'SIRT3', 'score': 5.01}, {'connected_gene': 'B4GALNT4', 'score': 0.29}]
chr11	GH11I000420	420782	421764	0.38	[{'connected_gene': 'GC11P000420', 'score': 550.77}, {'connected_gene': 'B4GALNT4', 'score': 5.76}, {'connected_gene': 'RNH1', 'score': 5.12}, {'connected_gene': 'LOC105376506', 'score': 0.39}, {'connected_gene': 'ANO9', 'score': 0.34}]