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
ENST00000483209	[[118930578, 118931528], [118935086, 118935191], [118937496, 118937619], [118942904, 118943092], [118945655, 118945888], [118948693, 118949091], [118955699, 118955917], [118959207, 118959486]]	[[118931395, 118931528], [118935086, 118935191], [118937496, 118937619], [118942904, 118943092], [118945655, 118945888], [118948693, 118948946]]
ENST00000467604	[[118930586, 118935191], [118937496, 118937619], [118942904, 118943092], [118945655, 118945888], [118948693, 118949091], [118955699, 118955917], [118959696, 118959725]]	[[118935082, 118935191], [118937496, 118937619], [118942904, 118943092], [118945655, 118945888], [118948693, 118948946]]
ENST00000471675	[[118930588, 118931040], [118945835, 118945888], [118948693, 118948900]]	[[118931016, 118931040], [118945835, 118945888], [118948693, 118948805]]
ENST00000359213	[[118930588, 118931528], [118935086, 118935191], [118937496, 118937619], [118942904, 118943092], [118945655, 118945888], [118948693, 118949091], [118953991, 118954074], [118955699, 118955917], [118959696, 118959793]]	[[118931395, 118931528], [118935086, 118935191], [118937496, 118937619], [118942904, 118943092], [118945655, 118945888], [118948693, 118948946]]
ENST00000393765	[[118930588, 118931528], [118935086, 118935191], [118937496, 118937619], [118942904, 118943092], [118945655, 118945888], [118948693, 118949091], [118955699, 118955917], [118959696, 118959950]]	[[118931395, 118931528], [118935086, 118935191], [118937496, 118937619], [118942904, 118943092], [118945655, 118945888], [118948693, 118948946]]
ENST00000480814	[[118930625, 118931528], [118935086, 118935191], [118937558, 118937619], [118942904, 118943092], [118945655, 118945888], [118948693, 118949091], [118955699, 118955918]]	[[118935185, 118935191], [118937558, 118937619], [118942904, 118943092], [118945655, 118945888], [118948693, 118948946]]
ENST00000460321	[[118935085, 118935191], [118937558, 118937619], [118942904, 118943092], [118945655, 118945888], [118955699, 118955917], [118959696, 118959725]]	None
ENST00000491906	[[118945655, 118945888], [118953991, 118954074], [118955699, 118955917], [118959696, 118959725]]	[[118945655, 118945730]]
ENST00000475803	[[118945732, 118945888], [118948693, 118949091], [118953991, 118954074], [118955699, 118955917], [118959696, 118959725]]	[[118945732, 118945888], [118948693, 118948946]]
ENST00000479150	[[118945785, 118945888], [118948693, 118949091], [118959611, 118959725]]	[[118945785, 118945888], [118948693, 118948946]]
ENST00000470111	[[118948782, 118949091], [118955699, 118955917], [118959611, 118959725]]	[[118948782, 118948946]]
ENST00000493932	[[118948821, 118949091], [118955699, 118955917], [118959411, 118959511]]	[[118948821, 118948946]]
ENST00000473887	[[118948881, 118949091], [118955699, 118955917], [118958872, 118959004]]	[[118948881, 118948946]]
ENST00000459778	[[118948926, 118949091], [118955699, 118955917], [118959207, 118959377], [118959696, 118959754]]	[[118948926, 118948946]]
ENST00000459820	[[118948938, 118949091], [118953991, 118954074], [118954999, 118955098], [118955699, 118955917], [118959696, 118959725]]	[[118948938, 118948946]]
ENST00000460395	[[118948962, 118949091], [118955699, 118955917], [118959162, 118959377], [118959696, 118959754]]	None
ENST00000472471	[[118949002, 118949091], [118953991, 118954074], [118955699, 118955917], [118959411, 118959502]]	None
ENST00000484595	[[118949022, 118949091], [118953991, 118954074], [118955699, 118955917], [118959207, 118959377], [118959696, 118959754]]	None
ENST00000487579	[[118951263, 118951368], [118951853, 118952000], [118953991, 118954074], [118955699, 118955917], [118959696, 118959725]]	None
ENST00000479308	[[118955061, 118955098], [118955699, 118955917], [118959045, 118959242]]	None
NM_212543	[[118930588, 118931528], [118935086, 118935191], [118937496, 118937619], [118942904, 118943092], [118945655, 118945888], [118948693, 118949091], [118953991, 118954074], [118955699, 118955917], [118959696, 118959752]]	[[118931395, 118931528], [118935086, 118935191], [118937496, 118937619], [118942904, 118943092], [118945655, 118945888], [118948693, 118948946]]
NM_003778	[[118930588, 118931528], [118935086, 118935191], [118937496, 118937619], [118942904, 118943092], [118945655, 118945888], [118948693, 118949091], [118955699, 118955917], [118959696, 118959752]]	[[118931395, 118931528], [118935086, 118935191], [118937496, 118937619], [118942904, 118943092], [118945655, 118945888], [118948693, 118948946]]

Promoter

Chrom	Start	End	Description
chr3	118959716	118959732	CAGE_peak_1_at_B4GALT4_5end
chr3	118959733	118959766	CAGE_peak_2_at_B4GALT4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I119184	119184272	119185915	0.82	[{'connected_gene': 'B4GALT4', 'score': 8.02}, {'connected_gene': 'UPK1B', 'score': 0.39}, {'connected_gene': 'ENSG00000251012', 'score': 0.28}, {'connected_gene': 'GC03M119181', 'score': 0.26}, {'connected_gene': 'B4GALT4-AS1', 'score': 0.26}]
chr3	GH03I119181	119181954	119182115	0.73	[{'connected_gene': 'B4GALT4', 'score': 3.25}, {'connected_gene': 'UPK1B', 'score': 3.24}, {'connected_gene': 'ENSG00000251012', 'score': 0.29}, {'connected_gene': 'B4GALT4-AS1', 'score': 0.26}, {'connected_gene': 'GC03M119181', 'score': 0.25}]
chr3	GH03I119236	119236531	119241764	2.18	[{'connected_gene': 'B4GALT4', 'score': 561.95}, {'connected_gene': 'ARHGAP31', 'score': 10.54}, {'connected_gene': 'GSK3B', 'score': 4.15}, {'connected_gene': 'GC03M119181', 'score': 0.39}, {'connected_gene': 'B4GALT4-AS1', 'score': 0.39}]
chr3	GH03I119218	119218698	119220068	0.2	[{'connected_gene': 'B4GALT4', 'score': 6.41}, {'connected_gene': 'GC03M119181', 'score': 0.44}, {'connected_gene': 'B4GALT4-AS1', 'score': 0.44}, {'connected_gene': 'UPK1B', 'score': 0.25}]
chr3	GH03I119256	119256134	119256323	0.31	[{'connected_gene': 'B4GALT4', 'score': 0.37}, {'connected_gene': 'B4GALT4-AS1', 'score': 0.31}, {'connected_gene': 'ARHGAP31', 'score': 0.28}]
chr3	GH03I119234	119234089	119236126	0.4	[{'connected_gene': 'B4GALT4', 'score': 10.06}, {'connected_gene': 'GC03M119181', 'score': 0.44}, {'connected_gene': 'B4GALT4-AS1', 'score': 0.44}]
chr3	GH03I119348	119348482	119354572	1.48	[{'connected_gene': 'ARHGAP31', 'score': 27.86}, {'connected_gene': 'ADPRH', 'score': 12.9}, {'connected_gene': 'ARHGAP31-AS1', 'score': 11.23}, {'connected_gene': 'CD80', 'score': 9.72}, {'connected_gene': 'B4GALT4', 'score': 8.24}, {'connected_gene': 'IGSF11', 'score': 5.51}, {'connected_gene': 'RPL10P7', 'score': 4.57}, {'connected_gene': 'COX17', 'score': 1.65}, {'connected_gene': 'GC03M119342', 'score': 0.44}, {'connected_gene': 'RNU6-1127P', 'score': 0.44}, {'connected_gene': 'GC03P119428', 'score': 0.18}]
chr3	GH03I119468	119468013	119470237	2.01	[{'connected_gene': 'POGLUT1', 'score': 591.92}, {'connected_gene': 'TMEM39A', 'score': 561.68}, {'connected_gene': 'RPS26P21', 'score': 14.74}, {'connected_gene': 'B4GALT4', 'score': 11.11}, {'connected_gene': 'CD80', 'score': 10.83}, {'connected_gene': 'FSTL1', 'score': 10.7}, {'connected_gene': 'TIMMDC1', 'score': 4.57}, {'connected_gene': 'ENSG00000272662', 'score': 0.31}]
chr3	GH03I120003	120003801	120004803	0.94	[{'connected_gene': 'GSK3B', 'score': 4.72}, {'connected_gene': 'B4GALT4', 'score': 4.43}, {'connected_gene': 'LOC100129707', 'score': 0.34}, {'connected_gene': 'GC03P119973', 'score': 0.29}, {'connected_gene': 'GC03M119752', 'score': 0.18}]
chr3	GH03I119210	119210194	119212558	0.75	[{'connected_gene': 'IGSF11', 'score': 18.5}, {'connected_gene': 'B4GALT4', 'score': 12.85}, {'connected_gene': 'UPK1B', 'score': 11.09}, {'connected_gene': 'GC03M119181', 'score': 0.37}, {'connected_gene': 'B4GALT4-AS1', 'score': 0.37}]
chr3	GH03I119257	119256375	119259278	0.79	[{'connected_gene': 'IGSF11', 'score': 10.95}, {'connected_gene': 'B4GALT4', 'score': 7.2}, {'connected_gene': 'ARHGAP31', 'score': 4.81}, {'connected_gene': 'B4GALT4-AS1', 'score': 0.29}]
chr3	GH03I119194	119194033	119195446	0.31	[{'connected_gene': 'IGSF11', 'score': 14.96}, {'connected_gene': 'B4GALT4-AS1', 'score': 11.1}, {'connected_gene': 'B4GALT4', 'score': 6.25}, {'connected_gene': 'UPK1B', 'score': 0.34}, {'connected_gene': 'GC03M119181', 'score': 0.29}]
chr3	GH03I119309	119309099	119312931	1.07	[{'connected_gene': 'RNU6-1127P', 'score': 10.94}, {'connected_gene': 'IGSF11', 'score': 8.69}, {'connected_gene': 'B4GALT4', 'score': 5.46}, {'connected_gene': 'ARHGAP31', 'score': 5.22}, {'connected_gene': 'ARHGAP31-AS1', 'score': 0.39}, {'connected_gene': 'PIR60663', 'score': 0.39}]
chr3	GH03I119321	119321625	119324330	1.98	[{'connected_gene': 'ARHGAP31-AS1', 'score': 550.77}, {'connected_gene': 'ARHGAP31', 'score': 15.12}, {'connected_gene': 'ADPRH', 'score': 12.8}, {'connected_gene': 'B4GALT4', 'score': 4.59}, {'connected_gene': 'COX17', 'score': 2.14}, {'connected_gene': 'CD80', 'score': 1.61}, {'connected_gene': 'GC03M119342', 'score': 0.37}, {'connected_gene': 'RNU6-1127P', 'score': 0.37}]
chr3	GH03I119278	119278996	119280200	0.78	[{'connected_gene': 'ARHGAP31-AS1', 'score': 11.42}, {'connected_gene': 'RNU6-1127P', 'score': 11.12}, {'connected_gene': 'ARHGAP31', 'score': 7.71}, {'connected_gene': 'IGSF11', 'score': 7.41}, {'connected_gene': 'B4GALT4', 'score': 0.28}, {'connected_gene': 'B4GALT4-AS1', 'score': 0.23}]
chr3	GH03I119275	119275054	119275183	0.74	[{'connected_gene': 'ARHGAP31-AS1', 'score': 11.13}, {'connected_gene': 'RNU6-1127P', 'score': 10.53}, {'connected_gene': 'IGSF11', 'score': 4.77}, {'connected_gene': 'ARHGAP31', 'score': 0.37}, {'connected_gene': 'B4GALT4', 'score': 0.29}, {'connected_gene': 'B4GALT4-AS1', 'score': 0.25}]
chr3	GH03I119300	119300401	119302318	1.13	[{'connected_gene': 'PIR60663', 'score': 550.77}, {'connected_gene': 'ARHGAP31', 'score': 14.65}, {'connected_gene': 'ARHGAP31-AS1', 'score': 11.18}, {'connected_gene': 'ADPRH', 'score': 6.12}, {'connected_gene': 'B4GALT4', 'score': 4.88}]
chr3	GH03I119220	119220334	119220483	0.2	[{'connected_gene': 'GC03M119181', 'score': 0.44}, {'connected_gene': 'B4GALT4-AS1', 'score': 0.44}, {'connected_gene': 'B4GALT4', 'score': 0.34}, {'connected_gene': 'UPK1B', 'score': 0.25}]
chr3	GH03I119226	119226571	119228152	0.31	[{'connected_gene': 'GC03M119181', 'score': 550.77}, {'connected_gene': 'B4GALT4-AS1', 'score': 550.77}, {'connected_gene': 'IGSF11', 'score': 14.87}, {'connected_gene': 'B4GALT4', 'score': 10.21}]