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
ENST00000380051	[[4994965, 4995510], [4996184, 4996319], [4996455, 4996654], [4998949, 4999075], [5000042, 5000138], [5000796, 5000865], [5002334, 5002479], [5004113, 5004281]]	[[4995311, 4995510], [4996184, 4996319], [4996455, 4996654], [4998949, 4999075], [5000042, 5000138], [5000796, 5000865], [5002334, 5002479], [5004113, 5004236]]
ENST00000319533	[[4995280, 4995510], [4996184, 4996319], [4996455, 4996654], [4998949, 4999075], [5000042, 5000138], [5002334, 5002479], [5004113, 5004270]]	[[4995311, 4995510], [4996184, 4996319], [4996455, 4996654], [4998949, 4999075], [5000042, 5000138], [5002334, 5002479], [5004113, 5004236]]
ENST00000464646	[[4995311, 4995510], [4996184, 4996319], [4996455, 4996654], [4998949, 4999075], [5000042, 5000138], [5000796, 5000865], [5002334, 5002479], [5003819, 5003892]]	[[4995311, 4995510], [4996184, 4996319], [4996455, 4996654], [4998949, 4999075], [5000042, 5000138], [5000796, 5000865], [5002334, 5002422]]
ENST00000468105	[[4998921, 4999075], [5000042, 5000138], [5000796, 5000865], [5002334, 5002479], [5004113, 5004281]]	None
ENST00000479782	[[4999061, 4999075], [5000042, 5000138], [5000796, 5000865], [5001327, 5001364], [5002334, 5002479], [5004113, 5004252]]	[[5000828, 5000865], [5001327, 5001364], [5002334, 5002479], [5004113, 5004236]]
ENST00000483546	[[5002009, 5002479], [5004113, 5004297]]	None
NM_006638	[[4995279, 4995510], [4996184, 4996319], [4996455, 4996654], [4998949, 4999075], [5000042, 5000138], [5000796, 5000865], [5002334, 5002479], [5004113, 5004297]]	[[4995311, 4995510], [4996184, 4996319], [4996455, 4996654], [4998949, 4999075], [5000042, 5000138], [5000796, 5000865], [5002334, 5002479], [5004113, 5004236]]
NM_001286133	[[4995279, 4995510], [4996184, 4996319], [4996455, 4996654], [5000042, 5000138], [5000796, 5000865], [5002334, 5002479], [5004113, 5004297]]	[[4995311, 4995510], [4996184, 4996319], [4996455, 4996654], [5000042, 5000138], [5000796, 5000865], [5002334, 5002479], [5004113, 5004236]]
NM_001286132	[[4995279, 4995510], [4996184, 4996319], [4996455, 4996654], [4998949, 4999075], [5000042, 5000138], [5002334, 5002479], [5004113, 5004297]]	[[4995311, 4995510], [4996184, 4996319], [4996455, 4996654], [4998949, 4999075], [5000042, 5000138], [5002334, 5002479], [5004113, 5004236]]

Promoter

Chrom	Start	End	Description
chr6	5004241	5004288	CAGE_peak_1_at_RPP40_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I004905	4905841	4908221	0.76	[{'connected_gene': 'RPP40', 'score': 10.24}, {'connected_gene': 'LOC105374897', 'score': 0.77}, {'connected_gene': 'PIR44299', 'score': 0.44}, {'connected_gene': 'CDYL', 'score': 0.08}]
chr6	GH06I004904	4904429	4905450	0.31	[{'connected_gene': 'RPP40', 'score': 10.24}, {'connected_gene': 'LOC105374897', 'score': 0.77}, {'connected_gene': 'PIR44299', 'score': 0.39}, {'connected_gene': 'CDYL', 'score': 0.08}]
chr6	GH06I004973	4973461	4975497	0.8	[{'connected_gene': 'RPP40', 'score': 27.53}, {'connected_gene': 'LYRM4-AS1', 'score': 14.14}, {'connected_gene': 'ENSG00000271978', 'score': 4.47}, {'connected_gene': 'RPS18P8', 'score': 0.77}, {'connected_gene': 'GC06M004961', 'score': 0.44}]
chr6	GH06I005003	5003127	5005206	2.04	[{'connected_gene': 'RPP40', 'score': 565.03}, {'connected_gene': 'LYRM4-AS1', 'score': 561.91}, {'connected_gene': 'GC06P005005', 'score': 550.77}, {'connected_gene': 'PIR62697', 'score': 550.77}, {'connected_gene': 'ENSG00000271978', 'score': 5.21}, {'connected_gene': 'GC06P005000', 'score': 0.77}]
chr6	GH06I005036	5036200	5036601	0.82	[{'connected_gene': 'GC06M005033', 'score': 550.77}, {'connected_gene': 'ENSG00000271978', 'score': 30.56}, {'connected_gene': 'RPP40', 'score': 11.36}, {'connected_gene': 'GC06M005047', 'score': 0.39}, {'connected_gene': 'LYRM4-AS1', 'score': 0.29}, {'connected_gene': 'LYRM4', 'score': 0.07}]
chr6	GH06I005025	5025491	5026999	0.98	[{'connected_gene': 'ENSG00000271978', 'score': 14.43}, {'connected_gene': 'RPP40', 'score': 12.2}, {'connected_gene': 'GC06M005033', 'score': 0.44}, {'connected_gene': 'LYRM4-AS1', 'score': 0.34}, {'connected_gene': 'GC06P005005', 'score': 0.34}]
chr6	GH06I004984	4984307	4985274	0.92	[{'connected_gene': 'GC06M004979', 'score': 550.77}, {'connected_gene': 'RPP40', 'score': 15.69}, {'connected_gene': 'ENSG00000271978', 'score': 5.18}, {'connected_gene': 'GC06P004993', 'score': 0.44}]
chr6	GH06I004957	4957627	4957776	0.46	[{'connected_gene': 'GC06M004952', 'score': 550.77}, {'connected_gene': 'RPP40', 'score': 14.82}, {'connected_gene': 'GC06M004963', 'score': 0.39}]