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
ENST00000232607	[[124449212, 124449474], [124453939, 124454093], [124456414, 124457086], [124458870, 124459046], [124460998, 124461113], [124462761, 124464040]]	[[124449318, 124449474], [124453939, 124454093], [124456414, 124457086], [124458870, 124459046], [124460998, 124461113], [124462761, 124462931]]
ENST00000462091	[[124449279, 124449474], [124456414, 124457086], [124458870, 124459046], [124460998, 124461113], [124462761, 124463604]]	[[124449318, 124449474], [124456414, 124456432]]
ENST00000467167	[[124449291, 124449474], [124450352, 124450451], [124453939, 124454093], [124456414, 124457086], [124458870, 124459046], [124460998, 124461113], [124462761, 124463604]]	[[124449318, 124449474], [124450352, 124450397]]
ENST00000536109	[[124449298, 124449474], [124450352, 124450451], [124453939, 124454093], [124456414, 124457086], [124458870, 124459046], [124460998, 124461113], [124462761, 124463604]]	[[124454059, 124454093], [124456414, 124457086], [124458870, 124459046], [124460998, 124461113], [124462761, 124462931]]
ENST00000460034	[[124449298, 124449474], [124450352, 124450451], [124456414, 124457086], [124458870, 124459046], [124460998, 124461113], [124462761, 124463604]]	[[124449318, 124449474], [124450352, 124450397]]
ENST00000474588	[[124449298, 124449474], [124453939, 124454093], [124456761, 124457086], [124458870, 124459046], [124460998, 124461113], [124462761, 124463604]]	[[124449318, 124449474], [124453939, 124454093], [124456761, 124456880]]
ENST00000538242	[[124449298, 124449474], [124456414, 124457086], [124458870, 124459046], [124460998, 124461113], [124462761, 124463604]]	[[124456638, 124457086], [124458870, 124459046], [124460998, 124461113], [124462761, 124462931]]
ENST00000413078	[[124449298, 124449474], [124456414, 124457086], [124462761, 124463604]]	[[124456638, 124457086], [124462761, 124462931]]
ENST00000479719	[[124449298, 124449474], [124453939, 124454093], [124456414, 124457290], [124458870, 124459046], [124460998, 124461113], [124462761, 124463604]]	[[124449318, 124449474], [124453939, 124454093], [124456414, 124457133]]
ENST00000497791	[[124449298, 124449474], [124456414, 124457086], [124462761, 124463604]]	[[124449318, 124449474], [124456414, 124456432]]
ENST00000498715	[[124456041, 124456069], [124456414, 124457218]]	None
ENST00000487622	[[124456977, 124457086], [124458870, 124459046], [124460998, 124461512]]	None
ENST00000495751	[[124457471, 124457582], [124458870, 124459046], [124460998, 124461113], [124462761, 124462917]]	None
NR_033434	[[124449212, 124449474], [124456414, 124457086], [124458870, 124459046], [124460998, 124461113], [124462761, 124468120]]	None
NM_000373	[[124449212, 124449474], [124453939, 124454093], [124456414, 124457086], [124458870, 124459046], [124460998, 124461113], [124462761, 124468120]]	[[124449318, 124449474], [124453939, 124454093], [124456414, 124457086], [124458870, 124459046], [124460998, 124461113], [124462761, 124462931]]
NR_033437	[[124449212, 124449474], [124450352, 124450451], [124453939, 124454093], [124456414, 124457086], [124458870, 124459046], [124460998, 124461113], [124462761, 124468120]]	None

Promoter

Chrom	Start	End	Description
chr3	124449275	124449313	CAGE_peak_1_at_UMPS_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I124260	124260177	124261904	1	[{'connected_gene': 'KALRN', 'score': 6.91}, {'connected_gene': 'UMPS', 'score': 6.06}, {'connected_gene': 'PIR58041', 'score': 0.18}, {'connected_gene': 'MIR6083', 'score': 0.14}]
chr3	GH03I124032	124032104	124035000	1.09	[{'connected_gene': 'KALRN', 'score': 561.76}, {'connected_gene': 'SEC22A', 'score': 13.97}, {'connected_gene': 'ROPN1', 'score': 10.89}, {'connected_gene': 'UMPS', 'score': 10.32}, {'connected_gene': 'MIR5002', 'score': 0.15}]
chr3	GH03I125512	125512137	125512426	0.84	[{'connected_gene': 'ZXDC', 'score': 12.81}, {'connected_gene': 'LOC101927056', 'score': 12.65}, {'connected_gene': 'ZNF148', 'score': 12.15}, {'connected_gene': 'UMPS', 'score': 10.95}, {'connected_gene': 'ENSG00000248787', 'score': 10.14}, {'connected_gene': 'GC03P125517', 'score': 0.77}, {'connected_gene': 'SNX4', 'score': 0.44}, {'connected_gene': 'GC03P125445', 'score': 0.2}]
chr3	GH03I125645	125645859	125648839	0.84	[{'connected_gene': 'ZNF148', 'score': 61.59}, {'connected_gene': 'ZXDC', 'score': 40.86}, {'connected_gene': 'UMPS', 'score': 37.98}, {'connected_gene': 'OR7E29P', 'score': 22.56}, {'connected_gene': 'ENSG00000242001', 'score': 20.9}, {'connected_gene': 'FAM86JP', 'score': 19.62}, {'connected_gene': 'LOC101927056', 'score': 18.57}, {'connected_gene': 'LOC100419878', 'score': 11.48}, {'connected_gene': 'SLC41A3', 'score': 11.13}, {'connected_gene': 'ENSG00000243072', 'score': 0.29}, {'connected_gene': 'PIR57986', 'score': 0.28}]
chr3	GH03I125373	125373415	125376574	2.07	[{'connected_gene': 'ZNF148', 'score': 566.07}, {'connected_gene': 'LOC105374080', 'score': 550.77}, {'connected_gene': 'UMPS', 'score': 13.23}, {'connected_gene': 'LOC100421437', 'score': 0.29}]
chr3	GH03I124612	124612801	124614225	0.54	[{'connected_gene': 'UMPS', 'score': 11.11}, {'connected_gene': 'ZNF148', 'score': 10.68}, {'connected_gene': 'KALRN', 'score': 6.99}, {'connected_gene': 'LOC100420144', 'score': 0.44}, {'connected_gene': 'LOC105374076', 'score': 0.31}]
chr3	GH03I124614	124614287	124614755	0.54	[{'connected_gene': 'UMPS', 'score': 11.11}, {'connected_gene': 'ZNF148', 'score': 10.68}, {'connected_gene': 'KALRN', 'score': 5.4}, {'connected_gene': 'LOC100420144', 'score': 0.44}, {'connected_gene': 'LOC105374076', 'score': 0.31}]
chr3	GH03I124810	124810562	124816232	1.71	[{'connected_gene': 'UMPS', 'score': 15.36}, {'connected_gene': 'ZNF148', 'score': 11.17}, {'connected_gene': 'ENSG00000280042', 'score': 0.34}, {'connected_gene': 'ENO1P3', 'score': 0.25}, {'connected_gene': 'GC03M124774', 'score': 0.2}, {'connected_gene': 'ITGB5', 'score': 0.17}]
chr3	GH03I124769	124769773	124776252	1.36	[{'connected_gene': 'UMPS', 'score': 18.28}, {'connected_gene': 'ITGB5', 'score': 11.68}, {'connected_gene': 'GC03M124772', 'score': 0.77}, {'connected_gene': 'PIR43599', 'score': 0.31}, {'connected_gene': 'GC03M124774', 'score': 0.14}]
chr3	GH03I123765	123765538	123767038	0.91	[{'connected_gene': 'UMPS', 'score': 10.32}, {'connected_gene': 'GC03P123815', 'score': 0.25}, {'connected_gene': 'LOC105369194', 'score': 0.19}, {'connected_gene': 'MYLK', 'score': 0.13}]
chr3	GH03I123767	123767114	123767263	0.74	[{'connected_gene': 'UMPS', 'score': 10.32}, {'connected_gene': 'GC03P123815', 'score': 0.25}, {'connected_gene': 'LOC105369194', 'score': 0.19}, {'connected_gene': 'MYLK', 'score': 0.13}]
chr3	GH03I124256	124256624	124258887	1.06	[{'connected_gene': 'UMPS', 'score': 4.12}, {'connected_gene': 'PIR58041', 'score': 0.19}, {'connected_gene': 'MIR6083', 'score': 0.13}, {'connected_gene': 'KALRN', 'score': 0.07}]
chr3	GH03I124783	124783260	124785239	1.04	[{'connected_gene': 'UMPS', 'score': 5.14}, {'connected_gene': 'ITGB5-AS1', 'score': 0.77}, {'connected_gene': 'ENSG00000276626', 'score': 0.44}, {'connected_gene': 'GC03M124774', 'score': 0.15}, {'connected_gene': 'ITGB5', 'score': 0.13}]
chr3	GH03I124786	124786045	124788200	1.04	[{'connected_gene': 'UMPS', 'score': 5.13}, {'connected_gene': 'ITGB5-AS1', 'score': 0.44}, {'connected_gene': 'ENSG00000276626', 'score': 0.44}, {'connected_gene': 'GC03M124774', 'score': 0.15}, {'connected_gene': 'ITGB5', 'score': 0.14}]
chr3	GH03I124729	124729674	124731482	2.07	[{'connected_gene': 'UMPS', 'score': 550.77}, {'connected_gene': 'MIR544B', 'score': 550.77}, {'connected_gene': 'ITGB5', 'score': 16.84}]
chr3	GH03I124925	124925271	124935675	1.47	[{'connected_gene': 'MUC13', 'score': 562.68}, {'connected_gene': 'ITGB5', 'score': 25.21}, {'connected_gene': 'ITGB5-AS1', 'score': 10.53}, {'connected_gene': 'RNU6-232P', 'score': 9.27}, {'connected_gene': 'UMPS', 'score': 4.55}]
chr3	GH03I124759	124759206	124761924	1.25	[{'connected_gene': 'ITGB5', 'score': 19.17}, {'connected_gene': 'UMPS', 'score': 4.6}, {'connected_gene': 'PIR43599', 'score': 0.39}, {'connected_gene': 'GC03M124772', 'score': 0.37}]
chr3	GH03I124831	124831106	124840609	1.77	[{'connected_gene': 'ITGB5', 'score': 49.71}, {'connected_gene': 'ITGB5-AS1', 'score': 11.85}, {'connected_gene': 'UMPS', 'score': 5.32}, {'connected_gene': 'KALRN', 'score': 1.46}, {'connected_gene': 'ENO1P3', 'score': 0.31}, {'connected_gene': 'ENSG00000280042', 'score': 0.26}, {'connected_gene': 'GC03M124774', 'score': 0.25}]
chr3	GH03I124038	124038417	124038731	0.34	[{'connected_gene': 'SEC22A', 'score': 15.37}, {'connected_gene': 'UMPS', 'score': 13.67}, {'connected_gene': 'CCDC14', 'score': 10.64}, {'connected_gene': 'KALRN', 'score': 0.44}, {'connected_gene': 'MIR5002', 'score': 0.16}]
chr3	GH03I124144	124144099	124145981	0.64	[{'connected_gene': 'SEC22A', 'score': 21.88}, {'connected_gene': 'UMPS', 'score': 11.9}, {'connected_gene': 'ITGB5', 'score': 10.79}, {'connected_gene': 'RPL7P15', 'score': 0.44}, {'connected_gene': 'MIR5002', 'score': 0.39}, {'connected_gene': 'KALRN', 'score': 0.14}]
chr3	GH03I124779	124779666	124782618	1.05	[{'connected_gene': 'ITGB5-AS1', 'score': 550.77}, {'connected_gene': 'ITGB5', 'score': 10.36}, {'connected_gene': 'UMPS', 'score': 4.54}, {'connected_gene': 'GC03M124772', 'score': 0.77}, {'connected_gene': 'GC03M124774', 'score': 0.15}]
chr3	GH03I124790	124790401	124794389	1.22	[{'connected_gene': 'ENSG00000280042', 'score': 550.77}, {'connected_gene': 'ENSG00000276626', 'score': 550.77}, {'connected_gene': 'ITGB5', 'score': 11.54}, {'connected_gene': 'MUC13', 'score': 9.83}, {'connected_gene': 'UMPS', 'score': 4.52}, {'connected_gene': 'ITGB5-AS1', 'score': 0.39}, {'connected_gene': 'GC03M124774', 'score': 0.16}]