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
ENST00000293845	[[8633251, 8633525], [8638413, 8638572], [8638707, 8638929], [8644791, 8644989], [8646943, 8647048], [8647396, 8647502], [8647844, 8648154]]	[[8633447, 8633525], [8638413, 8638572], [8638707, 8638929], [8644791, 8644989], [8646943, 8647048], [8647396, 8647502], [8647844, 8647927]]
ENST00000539522	[[8633267, 8633525], [8638413, 8638572], [8644791, 8644989], [8646943, 8647048], [8647396, 8647502], [8647844, 8648105]]	[[8633447, 8633525], [8638413, 8638572], [8644791, 8644989], [8646943, 8647048], [8647396, 8647502], [8647844, 8647927]]
ENST00000581598	[[8647891, 8648038], [8648146, 8648537]]	[[8647891, 8647927]]
NM_144681	[[8633245, 8633525], [8638413, 8638572], [8638707, 8638929], [8644791, 8644989], [8646943, 8647048], [8647396, 8647502], [8647844, 8648154]]	[[8633447, 8633525], [8638413, 8638572], [8638707, 8638929], [8644791, 8644989], [8646943, 8647048], [8647396, 8647502], [8647844, 8647927]]
NM_001158261	[[8633245, 8633525], [8638413, 8638572], [8644791, 8644989], [8646943, 8647048], [8647396, 8647502], [8647844, 8648154]]	[[8633447, 8633525], [8638413, 8638572], [8644791, 8644989], [8646943, 8647048], [8647396, 8647502], [8647844, 8647927]]

Promoter

Chrom	Start	End	Description
chr17	8648114	8648159	CAGE_peak_1_at_CCDC42_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I008726	8726583	8727713	0.2	[{'connected_gene': 'MYH10', 'score': 11.79}, {'connected_gene': 'SPDYE4', 'score': 11.14}, {'connected_gene': 'CCDC42', 'score': 10.78}, {'connected_gene': 'BORCS6', 'score': 4.96}, {'connected_gene': 'PIR61588', 'score': 0.39}, {'connected_gene': 'LOC105371529', 'score': 0.37}]
chr17	GH17I008578	8578873	8579246	0.31	[{'connected_gene': 'MYH10', 'score': 11.42}, {'connected_gene': 'CCDC42', 'score': 11.05}, {'connected_gene': 'RNF222', 'score': 10.01}, {'connected_gene': 'SPDYE4', 'score': 9.91}, {'connected_gene': 'GC17P008563', 'score': 0.37}]
chr17	GH17I008600	8600443	8600977	0.2	[{'connected_gene': 'MYH10', 'score': 12.1}, {'connected_gene': 'CCDC42', 'score': 10.48}, {'connected_gene': 'SPDYE4', 'score': 10.44}, {'connected_gene': 'RNF222', 'score': 10.04}, {'connected_gene': 'GC17P008563', 'score': 0.28}]
chr17	GH17I008599	8599750	8600295	0.31	[{'connected_gene': 'MYH10', 'score': 11.81}, {'connected_gene': 'CCDC42', 'score': 10.49}, {'connected_gene': 'SPDYE4', 'score': 10.44}, {'connected_gene': 'RNF222', 'score': 9.74}, {'connected_gene': 'GC17P008563', 'score': 0.28}]
chr17	GH17I008695	8695883	8699486	1.37	[{'connected_gene': 'MYH10', 'score': 14.8}, {'connected_gene': 'CCDC42', 'score': 11.36}, {'connected_gene': 'SPDYE4', 'score': 10.7}, {'connected_gene': 'LOC105371526', 'score': 0.37}, {'connected_gene': 'LOC105371525', 'score': 0.31}]
chr17	GH17I008580	8580455	8582240	0.76	[{'connected_gene': 'MYH10', 'score': 16.07}, {'connected_gene': 'CCDC42', 'score': 10.73}, {'connected_gene': 'SPDYE4', 'score': 10.72}, {'connected_gene': 'GC17P008563', 'score': 0.34}]
chr17	GH17I008574	8574754	8575301	0.43	[{'connected_gene': 'MYH10', 'score': 11.88}, {'connected_gene': 'CCDC42', 'score': 11.76}, {'connected_gene': 'RNU7-43P', 'score': 11.01}, {'connected_gene': 'SPDYE4', 'score': 10.18}, {'connected_gene': 'NDEL1', 'score': 4.45}, {'connected_gene': 'GC17P008563', 'score': 0.39}]
chr17	GH17I008573	8573175	8573807	0.31	[{'connected_gene': 'MYH10', 'score': 11.88}, {'connected_gene': 'CCDC42', 'score': 11.76}, {'connected_gene': 'RNU7-43P', 'score': 11.01}, {'connected_gene': 'SPDYE4', 'score': 10.18}, {'connected_gene': 'GC17P008563', 'score': 0.39}]
chr17	GH17I008570	8570727	8571268	0.2	[{'connected_gene': 'MYH10', 'score': 11.87}, {'connected_gene': 'CCDC42', 'score': 11.76}, {'connected_gene': 'RNU7-43P', 'score': 11.02}, {'connected_gene': 'SPDYE4', 'score': 10.18}, {'connected_gene': 'GC17P008563', 'score': 0.44}]
chr17	GH17I008738	8738703	8739456	0.2	[{'connected_gene': 'SPDYE4', 'score': 11.03}, {'connected_gene': 'MYH10', 'score': 10.95}, {'connected_gene': 'CCDC42', 'score': 0.44}, {'connected_gene': 'LOC105371529', 'score': 0.44}, {'connected_gene': 'PIR61588', 'score': 0.34}]
chr17	GH17I008706	8706874	8709464	1.04	[{'connected_gene': 'SPDYE4', 'score': 10.51}, {'connected_gene': 'CCDC42', 'score': 10.02}, {'connected_gene': 'LOC105371526', 'score': 0.44}, {'connected_gene': 'LOC105371525', 'score': 0.28}]
chr17	GH17I008758	8758464	8758523	0.61	[{'connected_gene': 'SPDYE4', 'score': 550.77}, {'connected_gene': 'CCDC42', 'score': 0.39}]
chr17	GH17I008782	8782006	8782802	0.2	[{'connected_gene': 'MFSD6L', 'score': 12.5}, {'connected_gene': 'CCDC42', 'score': 11.81}, {'connected_gene': 'SPDYE4', 'score': 11.5}, {'connected_gene': 'RNF222', 'score': 9.69}, {'connected_gene': 'LOC105371530', 'score': 0.39}, {'connected_gene': 'GC17P008796', 'score': 0.39}]
chr17	GH17I008785	8785622	8786276	0.84	[{'connected_gene': 'MFSD6L', 'score': 12.23}, {'connected_gene': 'CCDC42', 'score': 11.88}, {'connected_gene': 'SPDYE4', 'score': 11.54}, {'connected_gene': 'GC17P008796', 'score': 0.39}, {'connected_gene': 'LOC105371530', 'score': 0.37}]
chr17	GH17I008791	8791463	8792534	0.65	[{'connected_gene': 'MFSD6L', 'score': 16.9}, {'connected_gene': 'CCDC42', 'score': 11.34}, {'connected_gene': 'SPDYE4', 'score': 11.11}, {'connected_gene': 'GC17P008796', 'score': 0.77}, {'connected_gene': 'LOC105371530', 'score': 0.34}]
chr17	GH17I008699	8699996	8701638	0.38	[{'connected_gene': 'CCDC42', 'score': 5.64}, {'connected_gene': 'BORCS6', 'score': 5.0}, {'connected_gene': 'LOC105371526', 'score': 0.39}, {'connected_gene': 'LOC105371525', 'score': 0.29}]
chr17	GH17I008723	8723608	8725769	0.49	[{'connected_gene': 'CCDC42', 'score': 24.34}, {'connected_gene': 'MYH10', 'score': 12.15}, {'connected_gene': 'SPDYE4', 'score': 10.9}, {'connected_gene': 'RNF222', 'score': 10.51}, {'connected_gene': 'BORCS6', 'score': 5.85}, {'connected_gene': 'PIR61588', 'score': 0.44}, {'connected_gene': 'LOC105371529', 'score': 0.34}]
chr17	GH17I008721	8721419	8722259	0.31	[{'connected_gene': 'CCDC42', 'score': 11.96}, {'connected_gene': 'MYH10', 'score': 10.97}, {'connected_gene': 'SPDYE4', 'score': 10.55}, {'connected_gene': 'RNF222', 'score': 10.08}, {'connected_gene': 'PIR61588', 'score': 0.77}, {'connected_gene': 'LOC105371529', 'score': 0.34}]
chr17	GH17I008719	8719918	8720871	0.38	[{'connected_gene': 'CCDC42', 'score': 21.48}, {'connected_gene': 'MYH10', 'score': 10.98}, {'connected_gene': 'SPDYE4', 'score': 10.55}, {'connected_gene': 'RNF222', 'score': 10.08}, {'connected_gene': 'PIR61588', 'score': 0.77}, {'connected_gene': 'LOC105371529', 'score': 0.34}]
chr17	GH17I008577	8577468	8578318	0.38	[{'connected_gene': 'CCDC42', 'score': 12.12}, {'connected_gene': 'MYH10', 'score': 11.56}, {'connected_gene': 'SPDYE4', 'score': 10.44}, {'connected_gene': 'RNF222', 'score': 10.01}, {'connected_gene': 'GC17P008563', 'score': 0.37}]
chr17	GH17I008567	8567834	8569450	0.2	[{'connected_gene': 'CCDC42', 'score': 11.97}, {'connected_gene': 'MYH10', 'score': 11.46}, {'connected_gene': 'SPDYE4', 'score': 10.15}, {'connected_gene': 'RNF222', 'score': 9.99}, {'connected_gene': 'GC17P008563', 'score': 0.44}]
chr17	GH17I008895	8895509	8897162	0.46	[{'connected_gene': 'CCDC42', 'score': 11.67}, {'connected_gene': 'ENSG00000271851', 'score': 11.06}, {'connected_gene': 'SPDYE4', 'score': 10.38}, {'connected_gene': 'RANGRF', 'score': 9.91}, {'connected_gene': 'PIK3R5', 'score': 7.64}, {'connected_gene': 'GC17M008877', 'score': 0.44}]
chr17	GH17I008744	8744668	8746522	2.2	[{'connected_gene': 'CCDC42', 'score': 584.24}, {'connected_gene': 'LOC105371529', 'score': 550.77}, {'connected_gene': 'SPDYE4', 'score': 18.79}, {'connected_gene': 'ODF4', 'score': 15.5}, {'connected_gene': 'MFSD6L', 'score': 10.33}]
chr17	GH17I008740	8740201	8741055	0.72	[{'connected_gene': 'CCDC42', 'score': 12.79}, {'connected_gene': 'LOC105371529', 'score': 0.77}, {'connected_gene': 'PIR61588', 'score': 0.34}]
chr17	GH17I008696	8694260	8694618	0.2	[{'connected_gene': 'CCDC42', 'score': 4.86}, {'connected_gene': 'LOC105371525', 'score': 0.34}, {'connected_gene': 'LOC105371526', 'score': 0.34}]
chr17	GH17I008769	8769202	8769376	0.24	[{'connected_gene': 'LOC105371530', 'score': 550.77}, {'connected_gene': 'CCDC42', 'score': 20.86}, {'connected_gene': 'RNF222', 'score': 10.28}, {'connected_gene': 'SPDYE4', 'score': 9.16}, {'connected_gene': 'ODF4', 'score': 8.77}, {'connected_gene': 'MFSD6L', 'score': 3.29}, {'connected_gene': 'GC17P008796', 'score': 0.31}]
chr17	GH17I008739	8739903	8740052	0.2	[{'connected_gene': 'LOC105371529', 'score': 0.77}, {'connected_gene': 'CCDC42', 'score': 0.44}, {'connected_gene': 'PIR61588', 'score': 0.34}]
chr17	GH17I008670	8670185	8670924	0.4	[{'connected_gene': 'LOC105371525', 'score': 550.77}, {'connected_gene': 'MYH10', 'score': 11.51}, {'connected_gene': 'CCDC42', 'score': 11.15}, {'connected_gene': 'SPDYE4', 'score': 9.69}]
chr17	GH17I008668	8668343	8669980	0.79	[{'connected_gene': 'LOC105371525', 'score': 550.77}, {'connected_gene': 'MYH10', 'score': 11.47}, {'connected_gene': 'CCDC42', 'score': 11.14}, {'connected_gene': 'RNU7-43P', 'score': 10.99}, {'connected_gene': 'SPDYE4', 'score': 10.31}]
chr17	GH17I008364	8364763	8367189	0.93	[{'connected_gene': 'ENSG00000265749', 'score': 571.06}, {'connected_gene': 'ODF4', 'score': 57.41}, {'connected_gene': 'CCDC42', 'score': 53.56}, {'connected_gene': 'SPDYE4', 'score': 46.52}, {'connected_gene': 'ENSG00000212206', 'score': 11.33}, {'connected_gene': 'ENSG00000226871', 'score': 11.31}, {'connected_gene': 'RNF222', 'score': 10.57}, {'connected_gene': 'NDEL1', 'score': 9.8}, {'connected_gene': 'MFSD6L', 'score': 8.88}, {'connected_gene': 'CNTROB', 'score': 2.77}, {'connected_gene': 'PIR59981', 'score': 0.39}]
chr17	GH17I008548	8547909	8548368	0.2	[{'connected_gene': 'GC17M008546', 'score': 550.77}, {'connected_gene': 'RNU7-43P', 'score': 11.94}, {'connected_gene': 'MYH10', 'score': 11.84}, {'connected_gene': 'CCDC42', 'score': 11.18}, {'connected_gene': 'NDEL1', 'score': 10.33}, {'connected_gene': 'SPDYE4', 'score': 10.05}, {'connected_gene': 'RNF222', 'score': 10.04}, {'connected_gene': 'PPIAP52', 'score': 0.39}]