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
ENST00000370951	[[70671364, 70671463], [70687297, 70687522], [70694104, 70694238], [70697950, 70698060], [70700378, 70700471], [70701183, 70701233], [70703107, 70703235], [70705121, 70705203], [70710366, 70710498], [70712500, 70712590], [70715634, 70715730], [70716047, 70716186], [70716293, 70717300]]	[[70687319, 70687522], [70694104, 70694238], [70697950, 70698060], [70700378, 70700471], [70701183, 70701233], [70703107, 70703235], [70705121, 70705203], [70710366, 70710498], [70712500, 70712590], [70715634, 70715730], [70716047, 70716186], [70716293, 70716488]]
ENST00000463877	[[70671380, 70671463], [70687294, 70687522], [70694104, 70694410]]	None
ENST00000405432	[[70671406, 70671463], [70687297, 70687522], [70694104, 70694238], [70697950, 70698060], [70700378, 70700471], [70701183, 70701233], [70703107, 70703235], [70705121, 70705203], [70710366, 70710498], [70712500, 70712590], [70715634, 70715730], [70716047, 70716186], [70716290, 70716488]]	[[70687319, 70687522], [70694104, 70694238], [70697950, 70698060], [70700378, 70700471], [70701183, 70701233], [70703107, 70703235], [70705121, 70705203], [70710366, 70710498], [70712500, 70712590], [70715634, 70715730], [70716047, 70716186], [70716290, 70716488]]
ENST00000370950	[[70671406, 70671463], [70687294, 70687522], [70694104, 70694238], [70697950, 70698060], [70700378, 70700471], [70701183, 70701233], [70703107, 70703235], [70705121, 70705203], [70710366, 70710498], [70712500, 70712590], [70715634, 70715730], [70716047, 70716186], [70716290, 70718735]]	[[70687319, 70687522], [70694104, 70694238], [70697950, 70698060], [70700378, 70700471], [70701183, 70701233], [70703107, 70703235], [70705121, 70705203], [70710366, 70710498], [70712500, 70712590], [70715634, 70715730], [70716047, 70716186], [70716290, 70716488]]
ENST00000454435	[[70671417, 70671463], [70687297, 70687522], [70694104, 70694238], [70696239, 70696301], [70696777, 70697253]]	[[70687319, 70687522], [70694104, 70694238], [70696239, 70696298]]
ENST00000475204	[[70687052, 70687083], [70687297, 70687522], [70694104, 70694238], [70697541, 70697658], [70697950, 70698060], [70700378, 70700471], [70701183, 70701233]]	[[70687319, 70687522], [70694104, 70694238], [70697541, 70697591]]
ENST00000395136	[[70687078, 70687522], [70694104, 70694238], [70697950, 70698060], [70700378, 70700471], [70701183, 70701233], [70703107, 70703235], [70705121, 70705203], [70710366, 70710498], [70712500, 70712590], [70715613, 70715730], [70716047, 70716075]]	[[70687319, 70687522], [70694104, 70694238], [70697950, 70698060], [70700378, 70700471], [70701183, 70701233], [70703107, 70703235], [70705121, 70705203], [70710366, 70710498], [70712500, 70712590], [70715613, 70715730], [70716047, 70716075]]
ENST00000436161	[[70687144, 70687522], [70694104, 70694238], [70697541, 70697658], [70697950, 70698060], [70700378, 70700471], [70701183, 70701233], [70703107, 70703239]]	[[70687319, 70687522], [70694104, 70694238], [70697541, 70697591]]
ENST00000473950	[[70687151, 70687522], [70694147, 70694238], [70696777, 70696886], [70697541, 70697658], [70697950, 70698058]]	[[70687319, 70687522], [70694147, 70694187]]
ENST00000469170	[[70687162, 70687522], [70694104, 70694238], [70696777, 70696951]]	None
ENST00000486667	[[70687406, 70687522], [70688448, 70688481], [70694104, 70694238], [70697950, 70698060], [70700378, 70700471], [70701183, 70701233], [70703107, 70703233]]	None
ENST00000481648	[[70694104, 70694238], [70696777, 70696886], [70697950, 70698060], [70700378, 70700414]]	None
ENST00000463116	[[70695746, 70696301], [70696777, 70696957]]	None
ENST00000484162	[[70695960, 70697658], [70697950, 70698060], [70700378, 70700471], [70701183, 70701233], [70703107, 70703235], [70705121, 70705203], [70710366, 70710498], [70712500, 70712590], [70715634, 70715730], [70716047, 70716186], [70716290, 70717680]]	None
ENST00000370949	[[70697230, 70698060], [70700378, 70700471], [70701183, 70701233], [70703107, 70703235], [70705121, 70705203], [70710366, 70710498], [70712500, 70712590], [70715634, 70715730], [70716047, 70716186], [70716290, 70717684]]	[[70697793, 70698060], [70700378, 70700471], [70701183, 70701233], [70703107, 70703235], [70705121, 70705203], [70710366, 70710498], [70712500, 70712590], [70715634, 70715730], [70716047, 70716186], [70716290, 70716488]]
ENST00000463859	[[70703163, 70703235], [70705121, 70705203], [70710366, 70710498], [70712500, 70712590], [70712799, 70712832], [70715634, 70715730], [70716047, 70716186], [70716290, 70716681]]	None
ENST00000460795	[[70712412, 70712590], [70715634, 70715730], [70716047, 70716186], [70716293, 70716408]]	None
ENST00000461935	[[70714076, 70716186], [70716293, 70717684]]	None
ENST00000489188	[[70715424, 70715730], [70716047, 70716186], [70716290, 70716629]]	None
NM_001190987	[[70671364, 70671463], [70687297, 70687522], [70694104, 70694238], [70697950, 70698060], [70700378, 70700471], [70701183, 70701233], [70703107, 70703235], [70705121, 70705203], [70710366, 70710498], [70712500, 70712590], [70715634, 70715730], [70716047, 70716186], [70716293, 70717703]]	[[70687319, 70687522], [70694104, 70694238], [70697950, 70698060], [70700378, 70700471], [70701183, 70701233], [70703107, 70703235], [70705121, 70705203], [70710366, 70710498], [70712500, 70712590], [70715634, 70715730], [70716047, 70716186], [70716293, 70716488]]
NM_004768	[[70671364, 70671463], [70687294, 70687522], [70694104, 70694238], [70697950, 70698060], [70700378, 70700471], [70701183, 70701233], [70703107, 70703235], [70705121, 70705203], [70710366, 70710498], [70712500, 70712590], [70715634, 70715730], [70716047, 70716186], [70716290, 70717703]]	[[70687319, 70687522], [70694104, 70694238], [70697950, 70698060], [70700378, 70700471], [70701183, 70701233], [70703107, 70703235], [70705121, 70705203], [70710366, 70710498], [70712500, 70712590], [70715634, 70715730], [70716047, 70716186], [70716290, 70716488]]

Promoter

Chrom	Start	End	Description
chr1	70671347	70671358	CAGE_peak_6_at_SRSF11_5end
chr1	70671363	70671428	CAGE_peak_1_at_SRSF11_5end
chr1	70671434	70671440	CAGE_peak_13_at_SRSF11_5end
chr1	70687029	70687074	CAGE_peak_3_at_SRSF11_5end
chr1	70687083	70687108	CAGE_peak_4_at_SRSF11_5end
chr1	70687122	70687136	CAGE_peak_5_at_SRSF11_5end
chr1	70687137	70687200	CAGE_peak_2_at_SRSF11_5end
chr1	70687203	70687216	CAGE_peak_11_at_SRSF11_5end
chr1	70687312	70687325	CAGE_peak_8_at_SRSF11_5end
chr1	70696393	70696399	CAGE_peak_10_at_SRSF11_5end
chr1	70700401	70700416	CAGE_peak_12_at_SRSF11_5end
chr1	70715650	70715683	CAGE_peak_7_at_SRSF11_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I070243	70243334	70243783	0.43	[{'connected_gene': 'ZRANB2', 'score': 9.43}, {'connected_gene': 'MIR186', 'score': 9.43}, {'connected_gene': 'GC01P070230', 'score': 0.39}, {'connected_gene': 'SRSF11', 'score': 0.28}, {'connected_gene': 'GC01M070275', 'score': 0.23}]
chr1	GH01I070281	70281143	70281357	0.57	[{'connected_gene': 'SRSF11', 'score': 11.26}, {'connected_gene': 'ANKRD13C', 'score': 1.31}, {'connected_gene': 'GC01M070275', 'score': 0.39}, {'connected_gene': 'GC01P070230', 'score': 0.23}]
chr1	GH01I070203	70203749	70208011	2.28	[{'connected_gene': 'SRSF11', 'score': 596.09}, {'connected_gene': 'LRRC40', 'score': 556.43}, {'connected_gene': 'ZRANB2', 'score': 11.5}, {'connected_gene': 'ENSG00000228988', 'score': 0.37}]
chr1	GH01I070227	70227294	70227992	0.46	[{'connected_gene': 'SRSF11', 'score': 11.47}, {'connected_gene': 'LRRC40', 'score': 11.47}, {'connected_gene': 'GC01P070230', 'score': 0.77}, {'connected_gene': 'ENSG00000228988', 'score': 0.44}]
chr1	GH01I070219	70219729	70223779	2.25	[{'connected_gene': 'SRSF11', 'score': 571.21}, {'connected_gene': 'ENSG00000228988', 'score': 550.77}, {'connected_gene': 'LRRC40', 'score': 5.89}, {'connected_gene': 'GC01P070230', 'score': 0.44}]
chr1	GH01I071046	71046312	71048251	1.78	[{'connected_gene': 'PTGER3', 'score': 555.65}, {'connected_gene': 'ZRANB2-AS1', 'score': 550.77}, {'connected_gene': 'SRSF11', 'score': 10.55}]
chr1	GH01I070226	70226238	70226598	0.58	[{'connected_gene': 'LRRC40', 'score': 15.13}, {'connected_gene': 'SRSF11', 'score': 13.95}, {'connected_gene': 'ANKRD13C', 'score': 3.98}, {'connected_gene': 'GC01P070230', 'score': 0.77}, {'connected_gene': 'ENSG00000228988', 'score': 0.44}]
chr1	GH01I070246	70246796	70248805	0.63	[{'connected_gene': 'LRRC40', 'score': 4.45}, {'connected_gene': 'GC01P070230', 'score': 0.37}, {'connected_gene': 'SRSF11', 'score': 0.26}, {'connected_gene': 'GC01M070275', 'score': 0.25}]
chr1	GH01I070233	70233552	70235975	0.31	[{'connected_gene': 'LRRC40', 'score': 4.48}, {'connected_gene': 'GC01P070230', 'score': 0.77}, {'connected_gene': 'SRSF11', 'score': 0.31}, {'connected_gene': 'GC01M070275', 'score': 0.21}]
chr1	GH01I070409	70409496	70412968	2.3	[{'connected_gene': 'CTH', 'score': 565.78}, {'connected_gene': 'SRSF11', 'score': 23.69}, {'connected_gene': 'HHLA3', 'score': 21.1}, {'connected_gene': 'ZRANB2', 'score': 17.41}, {'connected_gene': 'ANKRD13C', 'score': 17.37}, {'connected_gene': 'ENSG00000278636', 'score': 0.37}]
chr1	GH01I071079	71079411	71082124	2.07	[{'connected_gene': 'ZRANB2-AS2', 'score': 550.77}, {'connected_gene': 'ZRANB2', 'score': 550.77}, {'connected_gene': 'SRSF11', 'score': 24.11}, {'connected_gene': 'PTGER3', 'score': 4.78}, {'connected_gene': 'MIR186', 'score': 0.39}]
chr1	GH01I070232	70231746	70232101	0.86	[{'connected_gene': 'GC01P070230', 'score': 550.77}, {'connected_gene': 'SRSF11', 'score': 0.31}, {'connected_gene': 'GC01M070275', 'score': 0.21}]
chr1	GH01I070231	70229159	70229384	0.4	[{'connected_gene': 'GC01P070230', 'score': 550.77}, {'connected_gene': 'ENSG00000228988', 'score': 0.44}, {'connected_gene': 'SRSF11', 'score': 0.34}]
chr1	GH01I070237	70237377	70238750	0.31	[{'connected_gene': 'GC01P070230', 'score': 0.44}, {'connected_gene': 'SRSF11', 'score': 0.29}, {'connected_gene': 'GC01M070275', 'score': 0.22}]
chr1	GH01I070230	70230927	70231276	0.86	[{'connected_gene': 'GC01P070230', 'score': 550.77}, {'connected_gene': 'SRSF11', 'score': 0.31}, {'connected_gene': 'GC01M070275', 'score': 0.2}]
chr1	GH01I070229	70229894	70230698	0.43	[{'connected_gene': 'GC01P070230', 'score': 550.77}, {'connected_gene': 'ENSG00000228988', 'score': 0.44}, {'connected_gene': 'SRSF11', 'score': 0.34}]