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
ENST00000351842	[[49315263, 49315884], [49316246, 49316335], [49318176, 49318280], [49321419, 49321569], [49321898, 49322017], [49322281, 49322352], [49323530, 49323758], [49329942, 49330031], [49331839, 49332031], [49335302, 49335397], [49335984, 49336068], [49337899, 49338124], [49339816, 49339975], [49343147, 49343321], [49348052, 49348170], [49362134, 49362196], [49362326, 49362472], [49363151, 49363278], [49365118, 49365249], [49372901, 49373029], [49377356, 49377466]]	[[49315725, 49315884], [49316246, 49316335], [49318176, 49318280], [49321419, 49321569], [49321898, 49322017], [49322281, 49322352], [49323530, 49323758], [49329942, 49330031], [49331839, 49332031], [49335302, 49335397], [49335984, 49336068], [49337899, 49338124], [49339816, 49339975], [49343147, 49343321], [49348052, 49348170], [49362134, 49362196], [49362326, 49362472], [49363151, 49363278], [49365118, 49365249], [49372901, 49373029], [49377356, 49377457]]
ENST00000265560	[[49315538, 49315884], [49316246, 49316335], [49318176, 49318280], [49321419, 49321569], [49321898, 49322017], [49322281, 49322352], [49323530, 49323758], [49329942, 49330031], [49331839, 49332031], [49335302, 49335397], [49335984, 49336068], [49337899, 49338124], [49339816, 49339975], [49343147, 49343321], [49348052, 49348170], [49348946, 49349087], [49362134, 49362196], [49362326, 49362472], [49363151, 49363278], [49365118, 49365249], [49372901, 49373029], [49377356, 49377504]]	[[49315725, 49315884], [49316246, 49316335], [49318176, 49318280], [49321419, 49321569], [49321898, 49322017], [49322281, 49322352], [49323530, 49323758], [49329942, 49330031], [49331839, 49332031], [49335302, 49335397], [49335984, 49336068], [49337899, 49338124], [49339816, 49339975], [49343147, 49343321], [49348052, 49348170], [49348946, 49349087], [49362134, 49362196], [49362326, 49362472], [49363151, 49363278], [49365118, 49365249], [49372901, 49373029], [49377356, 49377457]]
ENST00000483212	[[49315575, 49315884], [49316246, 49316664]]	None
ENST00000485450	[[49315590, 49315884], [49316246, 49316335], [49318176, 49318280], [49321419, 49321569], [49321898, 49322017], [49322281, 49322352], [49323530, 49323758], [49329942, 49330031], [49331839, 49332031], [49335302, 49335397], [49335984, 49336068], [49337899, 49338124], [49339816, 49339975], [49343147, 49343321], [49348052, 49348170], [49348946, 49350296]]	None
ENST00000431357	[[49315602, 49315884], [49318176, 49318280], [49321419, 49321569], [49321898, 49322017], [49322281, 49322352], [49323530, 49323758], [49329942, 49330031], [49331839, 49332031], [49335302, 49335397], [49335984, 49336068], [49337899, 49338124], [49339870, 49339975], [49343147, 49343321], [49348052, 49348170], [49348946, 49349051]]	[[49315879, 49315884], [49318176, 49318280], [49321419, 49321569], [49321898, 49322017], [49322281, 49322352], [49323530, 49323758], [49329942, 49330031], [49331839, 49332031], [49335302, 49335397], [49335984, 49336068], [49337899, 49338124], [49339870, 49339975], [49343147, 49343321], [49348052, 49348170], [49348946, 49349051]]
ENST00000475873	[[49321968, 49322017], [49322281, 49322352], [49323530, 49323758], [49329942, 49330031], [49330978, 49331077]]	None
ENST00000486549	[[49335302, 49335397], [49335984, 49336068], [49339816, 49339975], [49343147, 49343321], [49365118, 49365249], [49377356, 49377462]]	None
ENST00000488520	[[49338027, 49338124], [49339816, 49339975], [49343147, 49343321], [49348052, 49348170], [49348946, 49349087], [49355741, 49356207]]	None
ENST00000461553	[[49343210, 49343321], [49348052, 49348170], [49348946, 49349087], [49351303, 49351477]]	None
ENST00000416417	[[49349217, 49350046], [49362134, 49362196], [49362326, 49362472], [49363151, 49363278], [49365118, 49365249], [49372901, 49373029], [49377356, 49377469]]	[[49349799, 49350046], [49362134, 49362196], [49362326, 49362472], [49363151, 49363278], [49365118, 49365249], [49372901, 49373029], [49377356, 49377457]]
ENST00000415188	[[49354164, 49354911], [49362134, 49362196], [49362326, 49362472], [49363151, 49363278], [49365118, 49365249], [49372901, 49373029], [49377356, 49377469]]	[[49354514, 49354911], [49362134, 49362196], [49362326, 49362472], [49363151, 49363278], [49365118, 49365249], [49372901, 49373029], [49377356, 49377457]]
ENST00000462673	[[49354551, 49354911], [49355741, 49356090]]	None
ENST00000464168	[[49362129, 49362196], [49362326, 49362472], [49363151, 49363278], [49365118, 49365249], [49377356, 49377486]]	None
ENST00000491791	[[49362136, 49362196], [49362326, 49362472], [49363151, 49363278], [49365118, 49365249], [49372901, 49373029], [49377916, 49378145]]	None
NM_003363	[[49314576, 49315884], [49316246, 49316335], [49318176, 49318280], [49321419, 49321569], [49321898, 49322017], [49322281, 49322352], [49323530, 49323758], [49329942, 49330031], [49331839, 49332031], [49335302, 49335397], [49335984, 49336068], [49337899, 49338124], [49339816, 49339975], [49343147, 49343321], [49348052, 49348170], [49348946, 49349087], [49362134, 49362196], [49362326, 49362472], [49363151, 49363278], [49365118, 49365249], [49372901, 49373029], [49377356, 49377536]]	[[49315725, 49315884], [49316246, 49316335], [49318176, 49318280], [49321419, 49321569], [49321898, 49322017], [49322281, 49322352], [49323530, 49323758], [49329942, 49330031], [49331839, 49332031], [49335302, 49335397], [49335984, 49336068], [49337899, 49338124], [49339816, 49339975], [49343147, 49343321], [49348052, 49348170], [49348946, 49349087], [49362134, 49362196], [49362326, 49362472], [49363151, 49363278], [49365118, 49365249], [49372901, 49373029], [49377356, 49377457]]
NM_199443	[[49314576, 49315884], [49316246, 49316335], [49318176, 49318280], [49321419, 49321569], [49321898, 49322017], [49322281, 49322352], [49323530, 49323758], [49329942, 49330031], [49331839, 49332031], [49335302, 49335397], [49335984, 49336068], [49337899, 49338124], [49339816, 49339975], [49343147, 49343321], [49348052, 49348170], [49362134, 49362196], [49362326, 49362472], [49363151, 49363278], [49365118, 49365249], [49372901, 49373029], [49377356, 49377536]]	[[49315725, 49315884], [49316246, 49316335], [49318176, 49318280], [49321419, 49321569], [49321898, 49322017], [49322281, 49322352], [49323530, 49323758], [49329942, 49330031], [49331839, 49332031], [49335302, 49335397], [49335984, 49336068], [49337899, 49338124], [49339816, 49339975], [49343147, 49343321], [49348052, 49348170], [49362134, 49362196], [49362326, 49362472], [49363151, 49363278], [49365118, 49365249], [49372901, 49373029], [49377356, 49377457]]
NM_001251877	[[49349217, 49350046], [49362134, 49362196], [49362326, 49362472], [49363151, 49363278], [49365118, 49365249], [49372901, 49373029], [49377356, 49377536]]	[[49349799, 49350046], [49362134, 49362196], [49362326, 49362472], [49363151, 49363278], [49365118, 49365249], [49372901, 49373029], [49377356, 49377457]]

Promoter

Chrom	Start	End	Description
chr3	49377405	49377416	CAGE_peak_6_at_USP4_5end
chr3	49377446	49377495	CAGE_peak_1_at_USP4_5end
chr3	49377499	49377515	CAGE_peak_2_at_USP4_5end
chr3	49377619	49377665	CAGE_peak_3_at_USP4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I049408	49408988	49409117	0.66	[{'connected_gene': 'USP4', 'score': 10.46}, {'connected_gene': 'C3orf62', 'score': 10.37}, {'connected_gene': 'CCDC71', 'score': 10.14}, {'connected_gene': 'KLHDC8B', 'score': 10.14}, {'connected_gene': 'TCTA', 'score': 0.77}, {'connected_gene': 'RHOA', 'score': 0.77}, {'connected_gene': 'RHOA-IT1', 'score': 0.26}]
chr3	GH03I049338	49338697	49353402	2.66	[{'connected_gene': 'USP4', 'score': 565.03}, {'connected_gene': 'AMT', 'score': 71.69}, {'connected_gene': 'QRICH1', 'score': 41.08}, {'connected_gene': 'ENSG00000235236', 'score': 38.82}, {'connected_gene': 'RBM6', 'score': 32.91}, {'connected_gene': 'ATRIP', 'score': 29.45}, {'connected_gene': 'RBM5', 'score': 29.3}, {'connected_gene': 'WDR6', 'score': 28.82}, {'connected_gene': 'IP6K2', 'score': 27.4}, {'connected_gene': 'ENSG00000230454', 'score': 23.04}, {'connected_gene': 'DALRD3', 'score': 17.18}, {'connected_gene': 'RHOA', 'score': 16.73}, {'connected_gene': 'NICN1', 'score': 15.66}, {'connected_gene': 'SEMA3F-AS1', 'score': 14.61}, {'connected_gene': 'USP19', 'score': 14.04}, {'connected_gene': 'TCTA', 'score': 12.02}, {'connected_gene': 'FAM212A', 'score': 11.68}, {'connected_gene': 'APEH', 'score': 11.53}, {'connected_gene': 'ENSG00000223343', 'score': 11.11}, {'connected_gene': 'RHOA-IT1', 'score': 11.06}, {'connected_gene': 'NAT6', 'score': 11.0}, {'connected_gene': 'C3orf62', 'score': 10.9}, {'connected_gene': 'IMPDH2', 'score': 10.5}, {'connected_gene': 'NDUFAF3', 'score': 10.5}, {'connected_gene': 'MIR191', 'score': 10.5}, {'connected_gene': 'MIR425', 'score': 10.5}, {'connected_gene': 'P4HTM', 'score': 10.45}, {'connected_gene': 'QARS', 'score': 9.64}, {'connected_gene': 'CDHR4', 'score': 5.64}, {'connected_gene': 'ARIH2', 'score': 3.95}, {'connected_gene': 'MST1', 'score': 3.73}, {'connected_gene': 'IP6K1', 'score': 3.52}, {'connected_gene': 'UBA7', 'score': 2.45}, {'connected_gene': 'GC03M049358', 'score': 0.39}]
chr3	GH03I049387	49387738	49387957	0.86	[{'connected_gene': 'USP4', 'score': 1.95}, {'connected_gene': 'ARIH2', 'score': 1.71}, {'connected_gene': 'UBA7', 'score': 1.47}, {'connected_gene': 'QRICH1', 'score': 1.31}, {'connected_gene': 'TCTA', 'score': 0.34}, {'connected_gene': 'RHOA-IT1', 'score': 0.34}, {'connected_gene': 'RHOA', 'score': 0.31}]
chr3	GH03I049409	49409349	49418264	2.46	[{'connected_gene': 'RHOA', 'score': 550.77}, {'connected_gene': 'TCTA', 'score': 550.77}, {'connected_gene': 'AMT', 'score': 45.15}, {'connected_gene': 'CCDC71', 'score': 22.23}, {'connected_gene': 'WDR6', 'score': 15.54}, {'connected_gene': 'SEMA3F-AS1', 'score': 15.38}, {'connected_gene': 'QRICH1', 'score': 12.91}, {'connected_gene': 'FAM212A', 'score': 11.87}, {'connected_gene': 'RBM5', 'score': 11.82}, {'connected_gene': 'RNA5SP130', 'score': 11.64}, {'connected_gene': 'DAG1', 'score': 11.64}, {'connected_gene': 'TMEM115', 'score': 11.6}, {'connected_gene': 'USP4', 'score': 11.39}, {'connected_gene': 'KLHDC8B', 'score': 10.49}, {'connected_gene': 'C3orf62', 'score': 10.38}, {'connected_gene': 'LAMB2', 'score': 9.92}, {'connected_gene': 'APEH', 'score': 7.28}, {'connected_gene': 'NICN1', 'score': 6.0}, {'connected_gene': 'MST1', 'score': 3.69}, {'connected_gene': 'GC03P049421', 'score': 0.44}, {'connected_gene': 'ENSG00000283189', 'score': 0.37}]
chr3	GH03I049309	49309625	49309902	0.22	[{'connected_gene': 'C3orf62', 'score': 12.15}, {'connected_gene': 'USP4', 'score': 12.15}, {'connected_gene': 'KLHDC8B', 'score': 11.14}, {'connected_gene': 'CCDC71', 'score': 11.14}, {'connected_gene': 'AMT', 'score': 11.11}, {'connected_gene': 'LAMB2', 'score': 10.41}, {'connected_gene': 'QARS', 'score': 10.34}, {'connected_gene': 'BSN', 'score': 9.95}, {'connected_gene': 'NICN1', 'score': 4.39}]
chr3	GH03I049296	49296848	49296997	0.38	[{'connected_gene': 'C3orf62', 'score': 0.37}, {'connected_gene': 'USP4', 'score': 0.26}]
chr3	GH03I049275	49275709	49280063	1.72	[{'connected_gene': 'C3orf62', 'score': 550.77}, {'connected_gene': 'WDR6', 'score': 51.27}, {'connected_gene': 'AMT', 'score': 41.86}, {'connected_gene': 'MST1', 'score': 3.69}, {'connected_gene': 'MIR4271', 'score': 0.77}, {'connected_gene': 'USP4', 'score': 0.21}]
chr3	GH03I049406	49406002	49408200	0.85	[{'connected_gene': 'AMT', 'score': 36.06}, {'connected_gene': 'USP4', 'score': 14.76}, {'connected_gene': 'C3orf62', 'score': 10.39}, {'connected_gene': 'CCDC71', 'score': 10.14}, {'connected_gene': 'KLHDC8B', 'score': 10.14}, {'connected_gene': 'MST1', 'score': 3.69}, {'connected_gene': 'RHOA', 'score': 0.44}, {'connected_gene': 'TCTA', 'score': 0.44}, {'connected_gene': 'RHOA-IT1', 'score': 0.26}]
chr3	GH03I049354	49354565	49356061	0.43	[{'connected_gene': 'AMT', 'score': 45.11}, {'connected_gene': 'MST1', 'score': 3.69}, {'connected_gene': 'GC03M049358', 'score': 0.77}, {'connected_gene': 'USP4', 'score': 0.39}]
chr3	GH03I049332	49332481	49333762	0.6	[{'connected_gene': 'AMT', 'score': 19.99}, {'connected_gene': 'APEH', 'score': 5.93}, {'connected_gene': 'USP4', 'score': 0.44}, {'connected_gene': 'C3orf62', 'score': 0.22}]
chr3	GH03I049248	49248202	49249657	1.18	[{'connected_gene': 'AMT', 'score': 41.11}, {'connected_gene': 'WDR6', 'score': 37.21}, {'connected_gene': 'USP4', 'score': 19.83}, {'connected_gene': 'C3orf62', 'score': 11.71}, {'connected_gene': 'LAMB2', 'score': 11.1}, {'connected_gene': 'KLHDC8B', 'score': 10.71}, {'connected_gene': 'CCDC71', 'score': 10.7}, {'connected_gene': 'DALRD3', 'score': 6.61}, {'connected_gene': 'RHOA', 'score': 3.57}, {'connected_gene': 'ARIH2', 'score': 2.91}, {'connected_gene': 'NDUFAF3', 'score': 1.27}, {'connected_gene': 'ENSG00000270538', 'score': 0.77}, {'connected_gene': 'PIR41977', 'score': 0.25}, {'connected_gene': 'CCDC36', 'score': 0.23}]
chr3	GH03I049170	49170417	49175414	2.04	[{'connected_gene': 'KLHDC8B', 'score': 550.77}, {'connected_gene': 'WDR6', 'score': 38.06}, {'connected_gene': 'AMT', 'score': 28.78}, {'connected_gene': 'CCDC36', 'score': 12.3}, {'connected_gene': 'LAMB2', 'score': 11.5}, {'connected_gene': 'C3orf62', 'score': 11.32}, {'connected_gene': 'USP4', 'score': 11.27}, {'connected_gene': 'QARS', 'score': 10.68}, {'connected_gene': 'C3orf84', 'score': 0.37}]
chr3	GH03I049467	49467300	49472548	2.23	[{'connected_gene': 'DAG1', 'score': 550.77}, {'connected_gene': 'AMT', 'score': 55.59}, {'connected_gene': 'WDR6', 'score': 15.31}, {'connected_gene': 'LAMB2', 'score': 10.65}, {'connected_gene': 'MST1', 'score': 5.66}, {'connected_gene': 'USP4', 'score': 4.91}, {'connected_gene': 'GC03P049421', 'score': 0.25}, {'connected_gene': 'PIR41851', 'score': 0.21}]
chr3	GH03I049320	49320858	49321450	0.41	[{'connected_gene': 'WDR6', 'score': 11.67}, {'connected_gene': 'C3orf62', 'score': 11.63}, {'connected_gene': 'NICN1', 'score': 11.46}, {'connected_gene': 'AMT', 'score': 11.11}, {'connected_gene': 'LAMB2', 'score': 10.43}, {'connected_gene': 'KLHDC8B', 'score': 10.42}, {'connected_gene': 'CCDC71', 'score': 10.42}, {'connected_gene': 'QARS', 'score': 9.9}, {'connected_gene': 'USP4', 'score': 9.57}, {'connected_gene': 'IP6K1', 'score': 4.06}, {'connected_gene': 'ARIH2', 'score': 3.51}, {'connected_gene': 'UBA7', 'score': 2.43}, {'connected_gene': 'NDUFAF3', 'score': 2.29}, {'connected_gene': 'ARIH2OS', 'score': 2.0}, {'connected_gene': 'USP19', 'score': 1.65}, {'connected_gene': 'DALRD3', 'score': 1.47}, {'connected_gene': 'QRICH1', 'score': 1.33}]
chr3	GH03I049237	49237729	49240672	1.53	[{'connected_gene': 'WDR6', 'score': 44.54}, {'connected_gene': 'AMT', 'score': 40.62}, {'connected_gene': 'IP6K2', 'score': 11.28}, {'connected_gene': 'TREX1', 'score': 10.46}, {'connected_gene': 'ZNF589', 'score': 9.98}, {'connected_gene': 'USP4', 'score': 7.75}, {'connected_gene': 'APEH', 'score': 6.58}, {'connected_gene': 'DALRD3', 'score': 6.2}, {'connected_gene': 'ENSG00000235236', 'score': 4.08}, {'connected_gene': 'RHOA', 'score': 3.35}, {'connected_gene': 'ARIH2', 'score': 2.49}, {'connected_gene': 'AMIGO3', 'score': 1.23}, {'connected_gene': 'ENSG00000270538', 'score': 0.39}, {'connected_gene': 'PIR41977', 'score': 0.28}, {'connected_gene': 'CCDC36', 'score': 0.26}]
chr3	GH03I049217	49217655	49219708	1.18	[{'connected_gene': 'WDR6', 'score': 48.15}, {'connected_gene': 'AMT', 'score': 40.31}, {'connected_gene': 'RBM5', 'score': 12.32}, {'connected_gene': 'CCDC36', 'score': 12.28}, {'connected_gene': 'C3orf84', 'score': 12.25}, {'connected_gene': 'P4HTM', 'score': 11.79}, {'connected_gene': 'C3orf62', 'score': 11.54}, {'connected_gene': 'USP4', 'score': 11.44}, {'connected_gene': 'KLHDC8B', 'score': 11.43}, {'connected_gene': 'CCDC71', 'score': 11.41}, {'connected_gene': 'RBM6', 'score': 11.4}, {'connected_gene': 'ENSG00000271973', 'score': 10.56}, {'connected_gene': 'ENSG00000223343', 'score': 10.53}, {'connected_gene': 'QARS', 'score': 10.32}, {'connected_gene': 'ZNF589', 'score': 10.31}, {'connected_gene': 'PIR41977', 'score': 0.37}, {'connected_gene': 'ENSG00000270538', 'score': 0.29}]
chr3	GH03I048952	48952793	48952872	0.69	[{'connected_gene': 'ARIH2', 'score': 12.32}, {'connected_gene': 'ARIH2OS', 'score': 12.32}, {'connected_gene': 'ENSG00000235236', 'score': 11.73}, {'connected_gene': 'ENSG00000223343', 'score': 11.71}, {'connected_gene': 'P4HTM', 'score': 11.71}, {'connected_gene': 'LAMB2', 'score': 10.44}, {'connected_gene': 'QARS', 'score': 9.88}, {'connected_gene': 'USP4', 'score': 1.21}, {'connected_gene': 'PIR60921', 'score': 0.37}, {'connected_gene': 'PIR40585', 'score': 0.31}]