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
ENST00000487349	[[57302374, 57303646], [57310555, 57310756], [57311794, 57311948], [57312404, 57312948], [57314329, 57314501], [57317221, 57317467], [57321928, 57322087], [57322182, 57322314], [57323095, 57323151], [57325939, 57326132], [57326660, 57326710]]	[[57310577, 57310756], [57311794, 57311948], [57312404, 57312948], [57314329, 57314501], [57317221, 57317467], [57321928, 57322087], [57322182, 57322314], [57323095, 57323151], [57325939, 57326061]]
ENST00000389601	[[57302378, 57303646], [57310555, 57310756], [57311794, 57311948], [57312404, 57312948], [57314329, 57314481], [57317204, 57317467], [57321928, 57322087], [57322182, 57322314], [57322990, 57322994], [57323096, 57323151], [57325939, 57326132], [57326660, 57326710]]	[[57310577, 57310756], [57311794, 57311948], [57312404, 57312948], [57314329, 57314481], [57317204, 57317467], [57321928, 57322087], [57322182, 57322314], [57322990, 57322994], [57323096, 57323151], [57325939, 57326061]]
ENST00000515033	[[57310577, 57310756], [57311794, 57311948], [57312404, 57312980]]	None
NM_130387	[[57302378, 57303646], [57310555, 57310756], [57311794, 57311948], [57312404, 57312980]]	[[57310577, 57310756], [57311794, 57311948], [57312404, 57312980]]
NM_001142733	[[57302378, 57303646], [57310555, 57310756], [57311794, 57311948], [57312404, 57312948], [57314329, 57314501], [57317221, 57317467], [57321928, 57322087], [57322182, 57322314], [57323095, 57323151], [57325939, 57326132], [57326660, 57326710]]	[[57310577, 57310756], [57311794, 57311948], [57312404, 57312948], [57314329, 57314501], [57317221, 57317467], [57321928, 57322087], [57322182, 57322314], [57323095, 57323151], [57325939, 57326061]]

Promoter

Chrom	Start	End	Description
chr3	57326704	57326721	CAGE_peak_1_at_ASB14_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I057199	57199802	57200582	1.06	[{'connected_gene': 'HESX1', 'score': 561.98}, {'connected_gene': 'GC03P057200', 'score': 550.77}, {'connected_gene': 'APPL1', 'score': 11.98}, {'connected_gene': 'IL17RD', 'score': 11.04}, {'connected_gene': 'PDE12', 'score': 10.41}, {'connected_gene': 'ASB14', 'score': 10.36}, {'connected_gene': 'DNAH12', 'score': 10.25}, {'connected_gene': 'ARHGEF3', 'score': 9.59}, {'connected_gene': 'GC03M057226', 'score': 0.31}]
chr3	GH03I057706	57706117	57707114	0.69	[{'connected_gene': 'SLMAP', 'score': 15.89}, {'connected_gene': 'DNAH12', 'score': 8.83}, {'connected_gene': 'ASB14', 'score': 8.78}, {'connected_gene': 'ACOX2', 'score': 4.62}, {'connected_gene': 'DENND6A', 'score': 0.39}, {'connected_gene': 'GC03P057753', 'score': 0.25}]
chr3	GH03I057709	57709451	57709942	0.2	[{'connected_gene': 'SLMAP', 'score': 11.35}, {'connected_gene': 'DNAH12', 'score': 8.84}, {'connected_gene': 'ASB14', 'score': 8.78}, {'connected_gene': 'ARF4', 'score': 5.68}, {'connected_gene': 'DENND6A', 'score': 0.37}, {'connected_gene': 'GC03P057753', 'score': 0.26}]
chr3	GH03I057127	57127428	57132788	1.03	[{'connected_gene': 'IL17RD', 'score': 20.0}, {'connected_gene': 'ARHGEF3', 'score': 10.83}, {'connected_gene': 'APPL1', 'score': 10.6}, {'connected_gene': 'HESX1', 'score': 10.6}, {'connected_gene': 'ASB14', 'score': 9.5}, {'connected_gene': 'DNAH12', 'score': 9.45}, {'connected_gene': 'SLMAP', 'score': 4.02}, {'connected_gene': 'RPL19P2', 'score': 0.77}, {'connected_gene': 'PIR43010', 'score': 0.29}]
chr3	GH03I057169	57169801	57170601	1.36	[{'connected_gene': 'IL17RD', 'score': 550.77}, {'connected_gene': 'APPL1', 'score': 16.79}, {'connected_gene': 'HESX1', 'score': 11.04}, {'connected_gene': 'PDE12', 'score': 10.36}, {'connected_gene': 'ASB14', 'score': 9.91}, {'connected_gene': 'DNAH12', 'score': 9.84}, {'connected_gene': 'DENND6A-DT', 'score': 9.47}, {'connected_gene': 'DENND6A', 'score': 9.47}, {'connected_gene': 'SLMAP', 'score': 4.1}, {'connected_gene': 'LOC105377101', 'score': 0.37}]
chr3	GH03I057110	57110720	57111534	0.49	[{'connected_gene': 'ARHGEF3', 'score': 11.6}, {'connected_gene': 'SPATA12', 'score': 11.2}, {'connected_gene': 'PDE12', 'score': 10.4}, {'connected_gene': 'APPL1', 'score': 10.17}, {'connected_gene': 'HESX1', 'score': 10.17}, {'connected_gene': 'ASB14', 'score': 10.07}, {'connected_gene': 'DNAH12', 'score': 10.03}, {'connected_gene': 'PIR43010', 'score': 0.39}, {'connected_gene': 'RPL19P2', 'score': 0.34}, {'connected_gene': 'IL17RD', 'score': 0.22}]
chr3	GH03I057435	57435834	57437091	0.7	[{'connected_gene': 'ARF4', 'score': 4.77}, {'connected_gene': 'DNAH12', 'score': 4.18}, {'connected_gene': 'GC03P057493', 'score': 0.22}, {'connected_gene': 'ASB14', 'score': 0.11}]
chr3	GH03I057059	57059424	57063200	1.31	[{'connected_gene': 'SPATA12', 'score': 550.77}, {'connected_gene': 'ASB14', 'score': 5.48}, {'connected_gene': 'ARHGEF3', 'score': 0.37}, {'connected_gene': 'ENSG00000272202', 'score': 0.37}]
chr3	GH03I057090	57090882	57092395	0.2	[{'connected_gene': 'SPATA12', 'score': 11.76}, {'connected_gene': 'ASB14', 'score': 9.93}, {'connected_gene': 'DNAH12', 'score': 9.9}, {'connected_gene': 'IL17RD', 'score': 7.5}, {'connected_gene': 'PIR55494', 'score': 0.77}, {'connected_gene': 'GC03M057078', 'score': 0.39}]
chr3	GH03I057158	57158551	57162597	1.1	[{'connected_gene': 'CCDC66', 'score': 15.47}, {'connected_gene': 'FAM208A', 'score': 11.79}, {'connected_gene': 'IL17RD', 'score': 11.42}, {'connected_gene': 'APPL1', 'score': 10.61}, {'connected_gene': 'HESX1', 'score': 10.61}, {'connected_gene': 'ASB14', 'score': 10.26}, {'connected_gene': 'DNAH12', 'score': 10.19}, {'connected_gene': 'SLMAP', 'score': 4.02}, {'connected_gene': 'LOC105377101', 'score': 0.44}]
chr3	GH03I057196	57196401	57197599	0.62	[{'connected_gene': 'APPL1', 'score': 18.9}, {'connected_gene': 'HESX1', 'score': 11.96}, {'connected_gene': 'IL17RD', 'score': 11.04}, {'connected_gene': 'PDE12', 'score': 10.41}, {'connected_gene': 'ASB14', 'score': 10.35}, {'connected_gene': 'DNAH12', 'score': 10.25}, {'connected_gene': 'ARHGEF3', 'score': 9.59}, {'connected_gene': 'GC03P057200', 'score': 0.77}, {'connected_gene': 'GC03P057176', 'score': 0.34}]
chr3	GH03I057450	57450080	57452599	0.95	[{'connected_gene': 'DNAH12', 'score': 16.5}, {'connected_gene': 'DENND6A', 'score': 14.97}, {'connected_gene': 'RNU6-1181P', 'score': 11.19}, {'connected_gene': 'ASB14', 'score': 10.5}, {'connected_gene': 'DENND6A-DT', 'score': 10.2}, {'connected_gene': 'ARF4', 'score': 4.47}, {'connected_gene': 'SLMAP', 'score': 4.41}, {'connected_gene': 'GC03P057493', 'score': 0.26}]
chr3	GH03I056861	56861869	56861884	0.25	[{'connected_gene': 'ASB14', 'score': 1.4}, {'connected_gene': 'GC03M056906', 'score': 0.26}, {'connected_gene': 'GC03P056724', 'score': 0.12}, {'connected_gene': 'ARHGEF3', 'score': 0.08}]
chr3	GH03I057330	57330804	57332180	0.2	[{'connected_gene': 'ASB14', 'score': 11.4}, {'connected_gene': 'DNAH12', 'score': 11.2}, {'connected_gene': 'APPL1', 'score': 9.86}, {'connected_gene': 'HESX1', 'score': 9.86}, {'connected_gene': 'ARF4', 'score': 5.53}, {'connected_gene': 'GC03P057200', 'score': 0.12}, {'connected_gene': 'GC03P057493', 'score': 0.1}]
chr3	GH03I057292	57292672	57292731	0.5	[{'connected_gene': 'ASB14', 'score': 550.77}, {'connected_gene': 'PIR52706', 'score': 0.37}, {'connected_gene': 'GC03P057200', 'score': 0.16}]
chr3	GH03I057154	57154240	57155740	0.38	[{'connected_gene': 'LOC105377101', 'score': 550.77}, {'connected_gene': 'IL17RD', 'score': 11.25}, {'connected_gene': 'ARHGEF3', 'score': 10.66}, {'connected_gene': 'APPL1', 'score': 10.5}, {'connected_gene': 'HESX1', 'score': 10.5}, {'connected_gene': 'ASB14', 'score': 9.9}, {'connected_gene': 'DNAH12', 'score': 9.83}, {'connected_gene': 'SLMAP', 'score': 4.01}]
chr3	GH03I057149	57149786	57154203	1.03	[{'connected_gene': 'LOC105377101', 'score': 550.77}, {'connected_gene': 'IL17RD', 'score': 11.23}, {'connected_gene': 'APPL1', 'score': 10.89}, {'connected_gene': 'HESX1', 'score': 10.89}, {'connected_gene': 'ARHGEF3', 'score': 10.67}, {'connected_gene': 'ASB14', 'score': 9.89}, {'connected_gene': 'DNAH12', 'score': 9.83}, {'connected_gene': 'SLMAP', 'score': 4.01}, {'connected_gene': 'RPL19P2', 'score': 0.37}]
chr3	GH03I057093	57093093	57096379	0.63	[{'connected_gene': 'PIR55494', 'score': 550.77}, {'connected_gene': 'SPATA12', 'score': 11.43}, {'connected_gene': 'APPL1', 'score': 10.02}, {'connected_gene': 'HESX1', 'score': 10.02}, {'connected_gene': 'ASB14', 'score': 9.93}, {'connected_gene': 'DNAH12', 'score': 9.9}, {'connected_gene': 'DENND6A-DT', 'score': 9.35}, {'connected_gene': 'DENND6A', 'score': 9.35}, {'connected_gene': 'GC03M057078', 'score': 0.39}, {'connected_gene': 'IL17RD', 'score': 0.18}]
chr3	GH03I057397	57397601	57398000	0.2	[{'connected_gene': 'GC03P057493', 'score': 0.15}, {'connected_gene': 'ASB14', 'score': 0.14}, {'connected_gene': 'DNAH12', 'score': 0.11}, {'connected_gene': 'GC03P057200', 'score': 0.08}]