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
ENST00000491455	[[214454444, 214454770], [214478529, 214478593], [214488104, 214488215], [214491421, 214491482], [214492201, 214492326], [214497983, 214498051], [214500964, 214501067], [214503510, 214503621], [214504292, 214504413], [214505360, 214507651], [214510046, 214510474]]	None
ENST00000471645	[[214454467, 214454770], [214478529, 214478593], [214488104, 214488215], [214491421, 214491482], [214492201, 214492326], [214497983, 214498051], [214500964, 214501067], [214503510, 214503621], [214504292, 214507651], [214510046, 214510473]]	None
ENST00000460580	[[214454564, 214454770], [214488104, 214488215], [214491421, 214491482], [214492201, 214492326], [214497983, 214498051], [214500964, 214501067], [214503510, 214503621], [214504292, 214504413], [214505360, 214505535], [214507542, 214507651], [214510046, 214510474]]	None
ENST00000415093	[[214454575, 214454770], [214478529, 214478593], [214488104, 214488215], [214491421, 214491482], [214492201, 214492326], [214497983, 214498051], [214500964, 214501067], [214503510, 214503621], [214507542, 214507651], [214510046, 214510177]]	[[214454597, 214454770], [214478529, 214478593], [214488104, 214488215], [214491421, 214491482], [214492201, 214492326], [214497983, 214498051], [214500964, 214501067], [214503510, 214503621], [214507542, 214507545]]
ENST00000366957	[[214454575, 214454770], [214478529, 214478593], [214488104, 214488215], [214491421, 214491482], [214492201, 214492326], [214497983, 214498051], [214500964, 214501067], [214503510, 214503621], [214504292, 214504413], [214505360, 214505535], [214507542, 214507651], [214510046, 214510474]]	[[214454597, 214454770], [214478529, 214478593], [214488104, 214488215], [214491421, 214491482], [214492201, 214492326], [214497983, 214498051], [214500964, 214501067], [214503510, 214503621], [214504292, 214504413], [214505360, 214505535], [214507542, 214507651], [214510046, 214510127]]
ENST00000484459	[[214500836, 214501067], [214503510, 214503621], [214504292, 214504413]]	None
ENST00000416415	[[214504319, 214504413], [214505360, 214505535], [214510046, 214510474]]	[[214504319, 214504413], [214505360, 214505535], [214510046, 214510068]]
NM_020197	[[214454564, 214454770], [214478529, 214478593], [214488104, 214488215], [214491421, 214491482], [214492201, 214492326], [214497983, 214498051], [214500964, 214501067], [214503510, 214503621], [214504292, 214504413], [214505360, 214505535], [214507542, 214507651], [214510046, 214510477]]	[[214454597, 214454770], [214478529, 214478593], [214488104, 214488215], [214491421, 214491482], [214492201, 214492326], [214497983, 214498051], [214500964, 214501067], [214503510, 214503621], [214504292, 214504413], [214505360, 214505535], [214507542, 214507651], [214510046, 214510127]]

Promoter

Chrom	Start	End	Description
chr1	214453986	214454002	CAGE_peak_10_at_SMYD2_5end
chr1	214454271	214454293	CAGE_peak_3_at_SMYD2_5end
chr1	214454301	214454314	CAGE_peak_6_at_SMYD2_5end
chr1	214454320	214454341	CAGE_peak_4_at_SMYD2_5end
chr1	214454492	214454576	CAGE_peak_1_at_SMYD2_5end
chr1	214454577	214454605	CAGE_peak_2_at_SMYD2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I214442	214442801	214450119	1.49	[{'connected_gene': 'PTPN14', 'score': 5.2}, {'connected_gene': 'ABHD17AP3', 'score': 4.91}, {'connected_gene': 'PROX1', 'score': 4.9}, {'connected_gene': 'SMYD2', 'score': 4.85}, {'connected_gene': 'GC01M214483', 'score': 0.28}, {'connected_gene': 'ENSG00000228470', 'score': 0.17}]
chr1	GH01I214450	214450580	214457359	1.14	[{'connected_gene': 'PTPN14', 'score': 16.57}, {'connected_gene': 'SMYD2', 'score': 5.34}, {'connected_gene': 'KCNK2', 'score': 4.76}, {'connected_gene': 'GC01M214483', 'score': 0.31}, {'connected_gene': 'ENSG00000228470', 'score': 0.15}]
chr1	GH01I214457	214457595	214459313	0.38	[{'connected_gene': 'PTPN14', 'score': 5.69}, {'connected_gene': 'SMYD2', 'score': 4.71}, {'connected_gene': 'GC01M214483', 'score': 0.31}, {'connected_gene': 'ENSG00000228470', 'score': 0.15}]
chr1	GH01I214332	214332779	214334447	0.99	[{'connected_gene': 'SMYD2', 'score': 6.09}, {'connected_gene': 'PTPN14', 'score': 4.16}, {'connected_gene': 'PIR44288', 'score': 0.39}, {'connected_gene': 'GC01M214349', 'score': 0.37}]
chr1	GH01I214326	214326670	214328271	0.89	[{'connected_gene': 'SMYD2', 'score': 18.69}, {'connected_gene': 'PTPN14', 'score': 5.37}, {'connected_gene': 'PIR44288', 'score': 0.44}, {'connected_gene': 'GC01M214349', 'score': 0.34}]
chr1	GH01I214377	214377523	214381054	0.76	[{'connected_gene': 'SMYD2', 'score': 8.65}, {'connected_gene': 'PTPN14', 'score': 6.47}, {'connected_gene': 'ENSG00000228470', 'score': 0.34}, {'connected_gene': 'GC01M214483', 'score': 0.15}]
chr1	GH01I214399	214399565	214401039	0.4	[{'connected_gene': 'SMYD2', 'score': 5.59}, {'connected_gene': 'ENSG00000228470', 'score': 0.26}, {'connected_gene': 'GC01M214483', 'score': 0.18}, {'connected_gene': 'PTPN14', 'score': 0.1}]
chr1	GH01I214318	214317858	214319908	0.96	[{'connected_gene': 'SMYD2', 'score': 18.82}, {'connected_gene': 'PTPN14', 'score': 5.37}, {'connected_gene': 'PIR44288', 'score': 0.77}]
chr1	GH01I214307	214307743	214309385	0.2	[{'connected_gene': 'SMYD2', 'score': 17.99}, {'connected_gene': 'PTPN14', 'score': 5.55}, {'connected_gene': 'PIR44288', 'score': 0.39}]
chr1	GH01I214212	214212759	214214800	0.98	[{'connected_gene': 'SMYD2', 'score': 9.43}, {'connected_gene': 'PIR32114', 'score': 0.39}, {'connected_gene': 'PIR58481', 'score': 0.25}]
chr1	GH01I214328	214328918	214329087	0.98	[{'connected_gene': 'SMYD2', 'score': 17.83}, {'connected_gene': 'PIR44288', 'score': 0.44}, {'connected_gene': 'GC01M214349', 'score': 0.34}]
chr1	GH01I214330	214329339	214331497	0.58	[{'connected_gene': 'SMYD2', 'score': 6.39}, {'connected_gene': 'PIR44288', 'score': 0.44}, {'connected_gene': 'GC01M214349', 'score': 0.37}]
chr1	GH01I214215	214215381	214218114	0.71	[{'connected_gene': 'SMYD2', 'score': 5.63}, {'connected_gene': 'PIR32114', 'score': 0.37}, {'connected_gene': 'PIR58481', 'score': 0.25}]
chr1	GH01I214228	214228638	214229416	0.31	[{'connected_gene': 'SMYD2', 'score': 7.65}, {'connected_gene': 'PIR32114', 'score': 0.29}, {'connected_gene': 'PIR58481', 'score': 0.29}]
chr1	GH01I214311	214310001	214310400	0.52	[{'connected_gene': 'SMYD2', 'score': 12.43}, {'connected_gene': 'PIR44288', 'score': 0.39}]
chr1	GH01I214285	214285689	214286562	0.56	[{'connected_gene': 'SMYD2', 'score': 8.29}, {'connected_gene': 'PIR44288', 'score': 0.28}]
chr1	GH01I214279	214279771	214283316	2.22	[{'connected_gene': 'SMYD2', 'score': 561.64}, {'connected_gene': 'PIR44288', 'score': 0.26}]
chr1	GH01I214289	214289978	214290127	0.72	[{'connected_gene': 'SMYD2', 'score': 0.44}, {'connected_gene': 'PIR44288', 'score': 0.29}]
chr1	GH01I214277	214277211	214278126	0.96	[{'connected_gene': 'SMYD2', 'score': 9.16}, {'connected_gene': 'PIR58481', 'score': 0.39}]
chr1	GH01I214284	214284647	214285543	0.84	[{'connected_gene': 'SMYD2', 'score': 0.77}, {'connected_gene': 'PIR44288', 'score': 0.28}]
chr1	GH01I214316	214316361	214317212	0.86	[{'connected_gene': 'SMYD2', 'score': 12.17}, {'connected_gene': 'PIR44288', 'score': 0.44}]
chr1	GH01I214278	214278383	214278736	0.66	[{'connected_gene': 'SMYD2', 'score': 6.87}, {'connected_gene': 'PIR58481', 'score': 0.37}]
chr1	GH01I214310	214310801	214311200	0.66	[{'connected_gene': 'SMYD2', 'score': 12.43}, {'connected_gene': 'PIR44288', 'score': 0.39}]
chr1	GH01I214290	214290448	214291046	0.54	[{'connected_gene': 'SMYD2', 'score': 8.53}, {'connected_gene': 'PIR44288', 'score': 0.29}]
chr1	GH01I214303	214303201	214303898	0.2	[{'connected_gene': 'SMYD2', 'score': 4.9}, {'connected_gene': 'PIR44288', 'score': 0.37}]
chr1	GH01I214296	214296404	214297943	1	[{'connected_gene': 'SMYD2', 'score': 6.76}, {'connected_gene': 'PIR44288', 'score': 0.34}]
chr1	GH01I214317	214317273	214317547	0.88	[{'connected_gene': 'SMYD2', 'score': 18.14}, {'connected_gene': 'PIR44288', 'score': 0.77}]
chr1	GH01I214425	214425198	214431120	1.47	[{'connected_gene': 'CENPF', 'score': 10.45}, {'connected_gene': 'PTPN14', 'score': 6.05}, {'connected_gene': 'ABHD17AP3', 'score': 4.92}, {'connected_gene': 'SMYD2', 'score': 4.87}, {'connected_gene': 'PROX1', 'score': 4.24}, {'connected_gene': 'KCNK2', 'score': 4.16}, {'connected_gene': 'GC01M214483', 'score': 0.22}, {'connected_gene': 'ENSG00000228470', 'score': 0.19}]
chr1	GH01I214437	214437641	214442556	1.74	[{'connected_gene': 'CENPF', 'score': 11.15}, {'connected_gene': 'PTPN14', 'score': 6.12}, {'connected_gene': 'ABHD17AP3', 'score': 4.9}, {'connected_gene': 'SMYD2', 'score': 4.86}, {'connected_gene': 'GC01M214483', 'score': 0.26}, {'connected_gene': 'ENSG00000228470', 'score': 0.18}]
chr1	GH01I214602	214602267	214605460	2.07	[{'connected_gene': 'CENPF', 'score': 558.08}, {'connected_gene': 'SMYD2', 'score': 9.82}, {'connected_gene': 'ABHD17AP3', 'score': 0.44}]
chr1	GH01I214272	214272178	214272273	0.39	[{'connected_gene': 'PIR58481', 'score': 0.44}, {'connected_gene': 'SMYD2', 'score': 0.44}]
chr1	GH01I214329	214329106	214329107	0.97	[{'connected_gene': 'PIR44288', 'score': 0.44}, {'connected_gene': 'GC01M214349', 'score': 0.34}, {'connected_gene': 'SMYD2', 'score': 0.25}]
chr1	GH01I214331	214331958	214332107	0.79	[{'connected_gene': 'PIR44288', 'score': 0.44}, {'connected_gene': 'GC01M214349', 'score': 0.37}, {'connected_gene': 'SMYD2', 'score': 0.23}]