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
ENST00000561008	[[8271619, 8271683], [8275589, 8275746], [8315927, 8316133], [8319382, 8319486]]	[[8315960, 8316133], [8319382, 8319486]]
ENST00000558268	[[8274186, 8274378], [8275566, 8275746], [8315959, 8316133], [8319382, 8319500], [8320490, 8320539]]	[[8315960, 8316133], [8319382, 8319500], [8320490, 8320539]]
ENST00000558331	[[8274196, 8274378], [8275589, 8275746], [8315993, 8316133], [8319382, 8319500], [8320490, 8320609], [8320705, 8320763], [8321119, 8321170], [8321501, 8321594], [8321832, 8321961], [8322762, 8322869], [8326571, 8326728], [8326813, 8327294]]	[[8316113, 8316133], [8319382, 8319500], [8320490, 8320609], [8320705, 8320763], [8321119, 8321170], [8321501, 8321594], [8321832, 8321961], [8322762, 8322869], [8326571, 8326728], [8326813, 8326993]]
ENST00000561053	[[8274209, 8274378], [8275589, 8275746], [8315927, 8316133], [8319382, 8319500], [8320490, 8320608]]	[[8315960, 8316133], [8319382, 8319500], [8320490, 8320608]]
ENST00000559490	[[8274223, 8274378], [8275589, 8275746], [8305369, 8305447], [8306224, 8306254]]	None
ENST00000251363	[[8274236, 8274378], [8275589, 8275746], [8315959, 8316133], [8319382, 8319500], [8320490, 8320609], [8320705, 8320763], [8321119, 8321170], [8321501, 8321594], [8321832, 8321961], [8322762, 8322869], [8326571, 8326728], [8326813, 8327277]]	[[8315960, 8316133], [8319382, 8319500], [8320490, 8320609], [8320705, 8320763], [8321119, 8321170], [8321501, 8321594], [8321832, 8321961], [8322762, 8322869], [8326571, 8326728], [8326813, 8326993]]
ENST00000559450	[[8274239, 8274378], [8315959, 8316133], [8319382, 8319500], [8320490, 8320609], [8320705, 8320763], [8321119, 8321170], [8321501, 8321594], [8321832, 8321961], [8322762, 8322869], [8326571, 8326728], [8326813, 8327025]]	[[8315960, 8316133], [8319382, 8319500], [8320490, 8320609], [8320705, 8320763], [8321119, 8321170], [8321501, 8321594], [8321832, 8321961], [8322762, 8322869], [8326571, 8326728], [8326813, 8326993]]
ENST00000559336	[[8274254, 8274378], [8275589, 8275746], [8315959, 8316133], [8319382, 8319500], [8320490, 8320609], [8320705, 8320763], [8321119, 8321170], [8321501, 8321594], [8321832, 8321961], [8326813, 8327305]]	[[8315960, 8316133], [8319382, 8319500], [8320490, 8320609], [8320705, 8320763], [8321119, 8321170], [8321501, 8321594], [8321832, 8321961], [8326813, 8326993]]
ENST00000600912	[[8274259, 8274378], [8275589, 8275746], [8279249, 8279413]]	None
ENST00000595722	[[8274266, 8274378], [8275589, 8275746], [8279249, 8279365], [8306224, 8306341], [8319382, 8319500], [8320490, 8320609], [8320705, 8320763], [8321119, 8321170], [8321501, 8321594], [8321832, 8321961], [8322762, 8322869], [8326571, 8326728], [8326813, 8327305]]	None
ENST00000558501	[[8274314, 8274378], [8275589, 8275746], [8319382, 8319500], [8320490, 8320609], [8320705, 8320763], [8321119, 8321170], [8321501, 8321594], [8321832, 8322045]]	None
ENST00000560412	[[8274517, 8274832], [8275589, 8275746], [8315959, 8316055]]	[[8315960, 8316055]]
ENST00000558877	[[8289910, 8289973], [8306224, 8306341], [8315959, 8316133], [8319382, 8319500], [8320490, 8320609], [8320705, 8320763], [8321119, 8321170], [8321501, 8321559]]	[[8315960, 8316133], [8319382, 8319500], [8320490, 8320609], [8320705, 8320763], [8321119, 8321170], [8321501, 8321559]]
ENST00000557925	[[8315409, 8316133], [8319382, 8319500], [8320490, 8320609], [8320705, 8321170], [8321501, 8321594], [8321832, 8321961], [8322762, 8322869], [8326571, 8326728], [8326813, 8327302]]	None
ENST00000558302	[[8325880, 8326217], [8326571, 8326663]]	None
ENST00000599275	[[8326510, 8326728], [8326813, 8327305]]	None
NM_024552	[[8274216, 8274378], [8275589, 8275746], [8315959, 8316133], [8319382, 8319500], [8320490, 8320609], [8320705, 8320763], [8321119, 8321170], [8321501, 8321594], [8321832, 8321961], [8322762, 8322869], [8326571, 8326728], [8326813, 8327305]]	[[8315960, 8316133], [8319382, 8319500], [8320490, 8320609], [8320705, 8320763], [8321119, 8321170], [8321501, 8321594], [8321832, 8321961], [8322762, 8322869], [8326571, 8326728], [8326813, 8326993]]

Promoter

Chrom	Start	End	Description
chr19	8274185	8274193	CAGE_peak_2_at_CERS4_5end
chr19	8274204	8274265	CAGE_peak_1_at_CERS4_5end
chr19	8274512	8274538	CAGE_peak_3_at_CERS4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I008180	8180509	8182092	0.72	[{'connected_gene': 'FBN3', 'score': 9.1}, {'connected_gene': 'LOC100422633', 'score': 0.44}, {'connected_gene': 'CERS4', 'score': 0.31}]
chr19	GH19I008207	8207416	8211000	2.19	[{'connected_gene': 'CERS4', 'score': 598.27}, {'connected_gene': 'ELAVL1', 'score': 16.63}, {'connected_gene': 'ZNF414', 'score': 12.96}, {'connected_gene': 'HNRNPM', 'score': 11.74}, {'connected_gene': 'ZNF558', 'score': 10.63}, {'connected_gene': 'ENSG00000269300', 'score': 9.69}, {'connected_gene': 'ENSG00000271717', 'score': 0.29}]
chr19	GH19I008205	8205914	8207191	0.49	[{'connected_gene': 'CERS4', 'score': 597.22}, {'connected_gene': 'LOC100422633', 'score': 0.29}]
chr19	GH19I008202	8202640	8205520	0.64	[{'connected_gene': 'CERS4', 'score': 19.39}, {'connected_gene': 'LOC100422633', 'score': 0.29}]
chr19	GH19I008188	8188277	8188406	0.52	[{'connected_gene': 'CERS4', 'score': 0.37}, {'connected_gene': 'LOC100422633', 'score': 0.37}]
chr19	GH19I008196	8196201	8197008	1.14	[{'connected_gene': 'CERS4', 'score': 10.64}, {'connected_gene': 'LOC100422633', 'score': 0.34}]
chr19	GH19I008197	8197457	8197606	0.51	[{'connected_gene': 'CERS4', 'score': 0.44}, {'connected_gene': 'LOC100422633', 'score': 0.34}]
chr19	GH19I008216	8216458	8217569	0.38	[{'connected_gene': 'CERS4', 'score': 25.95}, {'connected_gene': 'ENSG00000271717', 'score': 0.34}]
chr19	GH19I008218	8218043	8219145	0.31	[{'connected_gene': 'CERS4', 'score': 28.75}, {'connected_gene': 'ENSG00000271717', 'score': 0.34}]
chr19	GH19I008219	8219995	8221850	0.49	[{'connected_gene': 'CERS4', 'score': 18.15}, {'connected_gene': 'ENSG00000271717', 'score': 0.37}]
chr19	GH19I008215	8215024	8215083	1.1	[{'connected_gene': 'CERS4', 'score': 550.44}, {'connected_gene': 'ENSG00000271717', 'score': 0.34}]
chr19	GH19I008211	8211201	8211400	0.72	[{'connected_gene': 'CERS4', 'score': 0.77}, {'connected_gene': 'ENSG00000271717', 'score': 0.31}]
chr19	GH19I008224	8224414	8225324	0.76	[{'connected_gene': 'CERS4', 'score': 8.39}, {'connected_gene': 'ENSG00000271717', 'score': 0.39}]
chr19	GH19I007842	7842495	7842983	0.85	[{'connected_gene': 'ELAVL1', 'score': 10.49}, {'connected_gene': 'LRRC8E', 'score': 9.82}, {'connected_gene': 'EVI5L', 'score': 6.66}, {'connected_gene': 'FBN3', 'score': 2.59}, {'connected_gene': 'PNPLA6', 'score': 2.25}, {'connected_gene': 'CAMSAP3', 'score': 1.54}, {'connected_gene': 'CERS4', 'score': 1.48}, {'connected_gene': 'CTXN1', 'score': 1.31}, {'connected_gene': 'ENSG00000268120', 'score': 0.31}]
chr19	GH19I008192	8192002	8195889	1.28	[{'connected_gene': 'ZNF558', 'score': 14.93}, {'connected_gene': 'ELAVL1', 'score': 14.56}, {'connected_gene': 'HNRNPM', 'score': 13.6}, {'connected_gene': 'ZNF317', 'score': 13.08}, {'connected_gene': 'XAB2', 'score': 12.55}, {'connected_gene': 'MAP2K7', 'score': 10.25}, {'connected_gene': 'ENSG00000269300', 'score': 10.23}, {'connected_gene': 'CERS4', 'score': 9.85}, {'connected_gene': 'FBN3', 'score': 8.1}, {'connected_gene': 'LOC100422633', 'score': 0.34}]
chr19	GH19I008174	8174837	8174966	0.2	[{'connected_gene': 'LOC100422633', 'score': 550.77}, {'connected_gene': 'CERS4', 'score': 0.29}]
chr19	GH19I008181	8180177	8180326	0.49	[{'connected_gene': 'LOC100422633', 'score': 0.44}, {'connected_gene': 'CERS4', 'score': 0.31}]
chr19	GH19I008251	8251117	8251386	0.88	[{'connected_gene': 'ENSG00000271717', 'score': 0.39}, {'connected_gene': 'GC19P008268', 'score': 0.37}, {'connected_gene': 'CERS4', 'score': 0.26}]
chr19	GH19I008261	8261077	8261226	0.52	[{'connected_gene': 'GC19P008268', 'score': 0.44}, {'connected_gene': 'ENSG00000271717', 'score': 0.34}, {'connected_gene': 'CERS4', 'score': 0.23}]
chr19	GH19I008241	8241801	8242686	0.79	[{'connected_gene': 'ENSG00000271717', 'score': 0.77}, {'connected_gene': 'GC19P008268', 'score': 0.31}, {'connected_gene': 'CERS4', 'score': 0.28}]
chr19	GH19I008237	8237734	8239061	0.31	[{'connected_gene': 'ENSG00000271717', 'score': 550.77}, {'connected_gene': 'CERS4', 'score': 5.33}]
chr19	GH19I008257	8257097	8257366	0.6	[{'connected_gene': 'GC19P008268', 'score': 0.39}, {'connected_gene': 'ENSG00000271717', 'score': 0.37}, {'connected_gene': 'CERS4', 'score': 0.23}]
chr19	GH19I008258	8257714	8258152	0.84	[{'connected_gene': 'GC19P008268', 'score': 0.39}, {'connected_gene': 'ENSG00000271717', 'score': 0.37}, {'connected_gene': 'CERS4', 'score': 0.23}]
chr19	GH19I008253	8253077	8253246	1.05	[{'connected_gene': 'GC19P008268', 'score': 0.39}, {'connected_gene': 'ENSG00000271717', 'score': 0.39}, {'connected_gene': 'CERS4', 'score': 0.25}]
chr19	GH19I008239	8239411	8241437	1.49	[{'connected_gene': 'ENSG00000271717', 'score': 550.77}, {'connected_gene': 'ZNF558', 'score': 98.92}, {'connected_gene': 'HNRNPM', 'score': 94.16}, {'connected_gene': 'ELAVL1', 'score': 88.44}, {'connected_gene': 'ZNF317', 'score': 76.53}, {'connected_gene': 'ENSG00000269300', 'score': 64.51}, {'connected_gene': 'XAB2', 'score': 55.32}, {'connected_gene': 'ZNF414', 'score': 27.93}, {'connected_gene': 'CERS4', 'score': 13.32}, {'connected_gene': 'ARHGEF18', 'score': 12.45}, {'connected_gene': 'MAP2K7', 'score': 10.54}, {'connected_gene': 'OR7D2', 'score': 9.84}, {'connected_gene': 'GC19P008268', 'score': 0.31}]