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

Promoter

Chrom	Start	End	Description
chr4	4543700	4543759	CAGE_peak_1_at_STX18_5end
chr4	4543761	4543795	CAGE_peak_2_at_STX18_5end
chr4	4544047	4544060	CAGE_peak_3_at_STX18_5end
chr4	4544061	4544075	CAGE_peak_4_at_STX18_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I004423	4423737	4424431	0.49	[{'connected_gene': 'TMEM128', 'score': 10.25}, {'connected_gene': 'NSG1', 'score': 8.01}, {'connected_gene': 'STX18-IT1', 'score': 0.22}, {'connected_gene': 'STX18', 'score': 0.13}]
chr4	GH04I004430	4430184	4431203	0.68	[{'connected_gene': 'TMEM128', 'score': 9.91}, {'connected_gene': 'NSG1', 'score': 6.36}, {'connected_gene': 'STX18-IT1', 'score': 0.23}, {'connected_gene': 'STX18', 'score': 0.14}]
chr4	GH04I003953	3953038	3957001	1.47	[{'connected_gene': 'FAM86EP', 'score': 562.14}, {'connected_gene': 'LOC105374358', 'score': 550.77}, {'connected_gene': 'ENSG00000253917', 'score': 550.77}, {'connected_gene': 'GC04P003954', 'score': 550.77}, {'connected_gene': 'ENSG00000271977', 'score': 15.96}, {'connected_gene': 'ZBTB49', 'score': 14.81}, {'connected_gene': 'ENPP7P9', 'score': 11.72}, {'connected_gene': 'STX18', 'score': 10.8}, {'connected_gene': 'TMEM128', 'score': 10.06}]
chr4	GH04I004471	4471743	4474556	1.25	[{'connected_gene': 'NSG1', 'score': 20.34}, {'connected_gene': 'TMEM128', 'score': 10.09}, {'connected_gene': 'STX18-IT1', 'score': 0.44}, {'connected_gene': 'STX18', 'score': 0.2}]
chr4	GH04I004426	4426732	4427950	0.46	[{'connected_gene': 'NSG1', 'score': 20.05}, {'connected_gene': 'TMEM128', 'score': 10.25}, {'connected_gene': 'STX18-IT1', 'score': 0.23}, {'connected_gene': 'STX18', 'score': 0.13}]
chr4	GH04I004502	4502601	4503400	0.85	[{'connected_gene': 'NSG1', 'score': 12.09}, {'connected_gene': 'PIR62291', 'score': 0.77}, {'connected_gene': 'RPS7P15', 'score': 0.77}, {'connected_gene': 'STX18', 'score': 0.28}]
chr4	GH04I004521	4521140	4522323	1.12	[{'connected_gene': 'NSG1', 'score': 7.86}, {'connected_gene': 'RPS7P15', 'score': 0.39}, {'connected_gene': 'STX18-AS1', 'score': 0.34}, {'connected_gene': 'STX18', 'score': 0.34}]
chr4	GH04I004456	4456414	4456563	0.31	[{'connected_gene': 'NSG1', 'score': 8.96}, {'connected_gene': 'STX18-IT1', 'score': 0.31}, {'connected_gene': 'STX18', 'score': 0.17}]
chr4	GH04I004489	4488474	4488683	0.69	[{'connected_gene': 'NSG1', 'score': 9.86}, {'connected_gene': 'STX18-IT1', 'score': 0.44}, {'connected_gene': 'PIR62291', 'score': 0.39}, {'connected_gene': 'STX18', 'score': 0.23}]
chr4	GH04I004457	4457066	4458893	0.58	[{'connected_gene': 'NSG1', 'score': 18.51}, {'connected_gene': 'STX18-IT1', 'score': 0.34}, {'connected_gene': 'STX18', 'score': 0.18}]
chr4	GH04I004496	4496149	4497694	0.54	[{'connected_gene': 'NSG1', 'score': 12.47}, {'connected_gene': 'PIR62291', 'score': 0.77}, {'connected_gene': 'STX18-IT1', 'score': 0.37}, {'connected_gene': 'STX18', 'score': 0.25}]
chr4	GH04I004460	4460611	4463639	0.86	[{'connected_gene': 'NSG1', 'score': 18.75}, {'connected_gene': 'STX18-IT1', 'score': 0.37}, {'connected_gene': 'STX18', 'score': 0.18}]
chr4	GH04I004523	4523782	4525545	0.68	[{'connected_gene': 'NSG1', 'score': 8.12}, {'connected_gene': 'STX18-AS1', 'score': 0.37}, {'connected_gene': 'STX18', 'score': 0.37}, {'connected_gene': 'RPS7P15', 'score': 0.37}]
chr4	GH04I004491	4491496	4493261	0.87	[{'connected_gene': 'ZBTB49', 'score': 10.38}, {'connected_gene': 'NSG1', 'score': 10.05}, {'connected_gene': 'PIR62291', 'score': 0.44}, {'connected_gene': 'STX18-IT1', 'score': 0.39}, {'connected_gene': 'STX18', 'score': 0.25}]
chr4	GH04I003767	3767134	3767303	0.52	[{'connected_gene': 'ADRA2C', 'score': 550.77}, {'connected_gene': 'NOP14-AS1', 'score': 14.47}, {'connected_gene': 'STX18-AS1', 'score': 11.25}, {'connected_gene': 'ZBTB49', 'score': 11.05}, {'connected_gene': 'STX18', 'score': 10.68}, {'connected_gene': 'GC04P003863', 'score': 0.15}]
chr4	GH04I003765	3765068	3766801	1.94	[{'connected_gene': 'ADRA2C', 'score': 550.77}, {'connected_gene': 'NOP14-AS1', 'score': 14.47}, {'connected_gene': 'STX18-AS1', 'score': 11.25}, {'connected_gene': 'ZBTB49', 'score': 11.05}, {'connected_gene': 'STX18', 'score': 10.68}, {'connected_gene': 'ENSG00000250986', 'score': 0.77}]
chr4	GH04I004459	4459886	4460595	0.2	[{'connected_gene': 'STX18-IT1', 'score': 0.34}, {'connected_gene': 'STX18', 'score': 0.18}, {'connected_gene': 'NSG1', 'score': 0.14}]
chr4	GH04I004443	4443914	4444063	0.77	[{'connected_gene': 'STX18-IT1', 'score': 0.28}, {'connected_gene': 'STX18', 'score': 0.15}, {'connected_gene': 'NSG1', 'score': 0.15}]
chr4	GH04I004488	4488761	4488888	0.62	[{'connected_gene': 'STX18-IT1', 'score': 0.44}, {'connected_gene': 'PIR62291', 'score': 0.39}, {'connected_gene': 'STX18', 'score': 0.23}]
chr4	GH04I004480	4480602	4481400	0.63	[{'connected_gene': 'STX18-IT1', 'score': 550.77}, {'connected_gene': 'NSG1', 'score': 8.09}, {'connected_gene': 'STX18', 'score': 0.21}]
chr4	GH04I004540	4540525	4543201	2.4	[{'connected_gene': 'STX18-AS1', 'score': 573.95}, {'connected_gene': 'STX18', 'score': 552.17}, {'connected_gene': 'TMEM128', 'score': 14.63}, {'connected_gene': 'FAM86EP', 'score': 13.2}, {'connected_gene': 'NSG1', 'score': 7.02}, {'connected_gene': 'ZBTB49', 'score': 1.79}, {'connected_gene': 'RPS7P15', 'score': 0.29}]
chr4	GH04I004852	4852512	4853701	0.85	[{'connected_gene': 'STX18-AS1', 'score': 11.28}, {'connected_gene': 'ZBTB49', 'score': 11.05}, {'connected_gene': 'STX18', 'score': 10.71}, {'connected_gene': 'LINC01396', 'score': 0.44}, {'connected_gene': 'MSX1', 'score': 0.44}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000505286	[[4417468, 4417890], [4422590, 4422671], [4425244, 4425314], [4426890, 4426949], [4436496, 4436585], [4440120, 4440236], [4458917, 4458984], [4459149, 4459227], [4461098, 4461214], [4473365, 4473433], [4543523, 4543737]]	[[4417875, 4417890], [4422590, 4422671], [4425244, 4425314], [4426890, 4426949], [4436496, 4436585], [4440120, 4440236], [4458917, 4458984], [4459149, 4459227], [4461098, 4461214], [4473365, 4473433], [4543523, 4543691]]
ENST00000306200	[[4420694, 4421856], [4422590, 4422671], [4425244, 4425314], [4426890, 4426949], [4436496, 4436585], [4440120, 4440236], [4458917, 4458984], [4459149, 4459227], [4461098, 4461214], [4473365, 4473433], [4543523, 4543755]]	[[4421760, 4421856], [4422590, 4422671], [4425244, 4425314], [4426890, 4426949], [4436496, 4436585], [4440120, 4440236], [4458917, 4458984], [4459149, 4459227], [4461098, 4461214], [4473365, 4473433], [4543523, 4543691]]
ENST00000503861	[[4421669, 4421856], [4422590, 4422671], [4425244, 4425314], [4436496, 4436585], [4440120, 4440236], [4458917, 4458984], [4459149, 4459227], [4461098, 4461214], [4463628, 4463664]]	[[4425290, 4425314], [4436496, 4436585], [4440120, 4440236], [4458917, 4458984], [4459149, 4459227], [4461098, 4461214], [4463628, 4463664]]
ENST00000512195	[[4426887, 4426949], [4436496, 4436585], [4440120, 4440236], [4458917, 4458984], [4459149, 4459227], [4461098, 4461214], [4463632, 4463681]]	[[4426887, 4426949], [4436496, 4436585], [4440120, 4440236], [4458917, 4458984], [4459149, 4459227], [4461098, 4461207]]
ENST00000507908	[[4426899, 4426949], [4436496, 4436585], [4440120, 4440236], [4458917, 4458984], [4459149, 4459227], [4461098, 4461214], [4473365, 4473433], [4543886, 4544073]]	[[4426899, 4426949], [4436496, 4436585], [4440120, 4440236], [4458917, 4458984], [4459149, 4459227], [4461098, 4461207]]
ENST00000512780	[[4440165, 4440236], [4458917, 4459227], [4461098, 4461214], [4473365, 4473433], [4543523, 4543758]]	None
ENST00000503692	[[4420694, 4422671], [4425244, 4425314], [4426890, 4428340]]	None
ENST00000515687	[[4421060, 4421856], [4422590, 4422671], [4425244, 4425550]]	None
ENST00000502267	[[4421821, 4421856], [4422590, 4422671], [4425244, 4425314], [4426890, 4427376]]	None
ENST00000510296	[[4421947, 4422671], [4425244, 4425415]]	None
NM_001346300	[[4420694, 4421856], [4422590, 4422671], [4425244, 4425314], [4426890, 4426949], [4436496, 4436585], [4440120, 4440236], [4458917, 4458984], [4459149, 4459227], [4461098, 4461214], [4463632, 4463699]]	[[4421760, 4421856], [4422590, 4422671], [4425244, 4425314], [4426890, 4426949], [4436496, 4436585], [4440120, 4440236], [4458917, 4458984], [4459149, 4459227], [4461098, 4461207]]
NM_001346281	[[4420694, 4421856], [4422590, 4422671], [4425244, 4425314], [4436496, 4436585], [4440120, 4440236], [4455347, 4455400], [4458917, 4458984], [4459149, 4459227], [4461098, 4461214], [4473365, 4473433], [4543523, 4543793]]	[[4421760, 4421856], [4422590, 4422671], [4425244, 4425314], [4436496, 4436585], [4440120, 4440236], [4455347, 4455400], [4458917, 4458984], [4459149, 4459227], [4461098, 4461214], [4473365, 4473433], [4543523, 4543691]]
NM_016930	[[4420694, 4421856], [4422590, 4422671], [4425244, 4425314], [4426890, 4426949], [4436496, 4436585], [4440120, 4440236], [4458917, 4458984], [4459149, 4459227], [4461098, 4461214], [4473365, 4473433], [4543523, 4543793]]	[[4421760, 4421856], [4422590, 4422671], [4425244, 4425314], [4426890, 4426949], [4436496, 4436585], [4440120, 4440236], [4458917, 4458984], [4459149, 4459227], [4461098, 4461214], [4473365, 4473433], [4543523, 4543691]]
NR_144414	[[4420694, 4421856], [4422590, 4422671], [4425244, 4425314], [4436496, 4436585], [4440120, 4440236], [4458917, 4458984], [4459149, 4459227], [4461098, 4461214], [4473365, 4473433], [4543523, 4543793]]	None
NM_001346282	[[4420694, 4421856], [4422590, 4422671], [4425244, 4425314], [4426890, 4426949], [4436496, 4436585], [4440120, 4440236], [4458917, 4458984], [4459149, 4459227], [4461098, 4461214], [4473365, 4473433], [4543886, 4544073]]	[[4421760, 4421856], [4422590, 4422671], [4425244, 4425314], [4426890, 4426949], [4436496, 4436585], [4440120, 4440236], [4458917, 4458984], [4459149, 4459227], [4461098, 4461207]]