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
ENST00000381769	[[3763608, 3765577], [3769201, 3769305], [3772780, 3772909], [3773094, 3773182], [3775847, 3775921], [3776702, 3776756], [3779516, 3779716], [3783639, 3783728], [3784920, 3784942], [3785821, 3785858], [3786335, 3786469], [3786722, 3786774], [3787177, 3787231], [3787673, 3787721], [3788621, 3789024], [3793986, 3794037]]	[[3765504, 3765577], [3769201, 3769305], [3772780, 3772909], [3773094, 3773182], [3775847, 3775921], [3776702, 3776756], [3779516, 3779716], [3783639, 3783728], [3784920, 3784942], [3785821, 3785858], [3786335, 3786469], [3786722, 3786774], [3787177, 3787231], [3787673, 3787721], [3788621, 3789024], [3793986, 3794024]]
ENST00000348335	[[3763608, 3765577], [3769201, 3769305], [3772780, 3772909], [3773094, 3773182], [3775847, 3775921], [3776702, 3776756], [3779516, 3779716], [3783639, 3783728], [3784920, 3784942], [3785821, 3785858], [3786335, 3786469], [3786722, 3786774], [3787177, 3787231], [3787673, 3787721], [3788621, 3789024], [3796232, 3796338]]	[[3765504, 3765577], [3769201, 3769305], [3772780, 3772909], [3773094, 3773182], [3775847, 3775921], [3776702, 3776756], [3779516, 3779716], [3783639, 3783728], [3784920, 3784942], [3785821, 3785858], [3786335, 3786469], [3786722, 3786774], [3787177, 3787231], [3787673, 3787721], [3788621, 3788981]]
ENST00000381771	[[3763624, 3765577], [3769201, 3769305], [3772780, 3772909], [3773094, 3773182], [3775847, 3775921], [3776702, 3776756], [3779516, 3779716], [3783639, 3783728], [3784920, 3784942], [3785550, 3785664], [3785821, 3785858], [3786335, 3786469], [3786722, 3786774], [3787177, 3787231], [3787673, 3787721], [3788621, 3789024], [3796232, 3796337]]	[[3765504, 3765577], [3769201, 3769305], [3772780, 3772909], [3773094, 3773182], [3775847, 3775921], [3776702, 3776756], [3779516, 3779716], [3783639, 3783728], [3784920, 3784942], [3785550, 3785664], [3785821, 3785858], [3786335, 3786469], [3786722, 3786774], [3787177, 3787231], [3787673, 3787721], [3788621, 3788981]]
ENST00000158166	[[3768450, 3769305], [3772780, 3772909], [3773094, 3773182], [3775847, 3775921], [3776702, 3776756], [3779516, 3779716], [3783639, 3783728], [3784920, 3784942], [3785550, 3785664], [3785821, 3785858], [3786335, 3786469], [3786722, 3786774], [3787177, 3787231], [3787673, 3787721], [3788621, 3789024], [3796232, 3796338]]	[[3769197, 3769305], [3772780, 3772909], [3773094, 3773182], [3775847, 3775921], [3776702, 3776756], [3779516, 3779716], [3783639, 3783728], [3784920, 3784942], [3785550, 3785664], [3785821, 3785858], [3786335, 3786469], [3786722, 3786774], [3787177, 3787231], [3787673, 3787721], [3788621, 3788981]]
ENST00000573483	[[3782124, 3783728], [3784920, 3785858], [3786335, 3786469], [3786722, 3786774], [3787177, 3787231], [3787673, 3787721], [3788621, 3789024], [3797520, 3798185]]	None
NM_172206	[[3763608, 3765577], [3769201, 3769305], [3772780, 3772909], [3773094, 3773182], [3775847, 3775921], [3776702, 3776756], [3779516, 3779716], [3783639, 3783728], [3784920, 3784942], [3785821, 3785858], [3786335, 3786469], [3786722, 3786774], [3787177, 3787231], [3787673, 3787721], [3788621, 3789024], [3793986, 3794037]]	[[3765504, 3765577], [3769201, 3769305], [3772780, 3772909], [3773094, 3773182], [3775847, 3775921], [3776702, 3776756], [3779516, 3779716], [3783639, 3783728], [3784920, 3784942], [3785821, 3785858], [3786335, 3786469], [3786722, 3786774], [3787177, 3787231], [3787673, 3787721], [3788621, 3789024], [3793986, 3794024]]
NM_032294	[[3763608, 3765577], [3769201, 3769305], [3772780, 3772909], [3773094, 3773182], [3775847, 3775921], [3776702, 3776756], [3779516, 3779716], [3783639, 3783728], [3784920, 3784942], [3785821, 3785858], [3786335, 3786469], [3786722, 3786774], [3787177, 3787231], [3787673, 3787721], [3788621, 3789024], [3796232, 3796337]]	[[3765504, 3765577], [3769201, 3769305], [3772780, 3772909], [3773094, 3773182], [3775847, 3775921], [3776702, 3776756], [3779516, 3779716], [3783639, 3783728], [3784920, 3784942], [3785821, 3785858], [3786335, 3786469], [3786722, 3786774], [3787177, 3787231], [3787673, 3787721], [3788621, 3788981]]
NM_172207	[[3768450, 3769305], [3772780, 3772909], [3773094, 3773182], [3775847, 3775921], [3776702, 3776756], [3779516, 3779716], [3783639, 3783728], [3784920, 3784942], [3785550, 3785664], [3785821, 3785858], [3786335, 3786469], [3786722, 3786774], [3787177, 3787231], [3787673, 3787721], [3788621, 3789024], [3796232, 3796337]]	[[3769197, 3769305], [3772780, 3772909], [3773094, 3773182], [3775847, 3775921], [3776702, 3776756], [3779516, 3779716], [3783639, 3783728], [3784920, 3784942], [3785550, 3785664], [3785821, 3785858], [3786335, 3786469], [3786722, 3786774], [3787177, 3787231], [3787673, 3787721], [3788621, 3788981]]

Promoter

Chrom	Start	End	Description
chr17	3794021	3794042	CAGE_peak_4_at_CAMKK1_5end
chr17	3796245	3796259	CAGE_peak_3_at_CAMKK1_5end
chr17	3796266	3796304	CAGE_peak_2_at_CAMKK1_5end
chr17	3796334	3796399	CAGE_peak_1_at_CAMKK1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I003866	3866664	3866758	0.2	[{'connected_gene': 'CAMKK1', 'score': 13.28}, {'connected_gene': 'NCBP3', 'score': 12.29}, {'connected_gene': 'HASPIN', 'score': 11.26}, {'connected_gene': 'GC17P003894', 'score': 0.31}]
chr17	GH17I003870	3870700	3871400	0.74	[{'connected_gene': 'CAMKK1', 'score': 13.3}, {'connected_gene': 'NCBP3', 'score': 12.29}, {'connected_gene': 'HASPIN', 'score': 11.26}, {'connected_gene': 'GC17P003894', 'score': 0.34}]
chr17	GH17I003857	3857807	3857956	0.38	[{'connected_gene': 'CAMKK1', 'score': 11.83}, {'connected_gene': 'NCBP3', 'score': 0.39}, {'connected_gene': 'GC17P003894', 'score': 0.28}]
chr17	GH17I003878	3878847	3880634	0.89	[{'connected_gene': 'CAMKK1', 'score': 6.07}, {'connected_gene': 'GC17P003894', 'score': 0.39}, {'connected_gene': 'NCBP3', 'score': 0.29}]
chr17	GH17I003885	3885071	3896001	2.57	[{'connected_gene': 'CAMKK1', 'score': 561.76}, {'connected_gene': 'ANKFY1', 'score': 81.55}, {'connected_gene': 'MYBBP1A', 'score': 49.3}, {'connected_gene': 'PELP1', 'score': 45.11}, {'connected_gene': 'ENSG00000235085', 'score': 32.16}, {'connected_gene': 'LOC105371492', 'score': 20.16}, {'connected_gene': 'ZZEF1', 'score': 19.94}, {'connected_gene': 'P2RX1', 'score': 18.28}, {'connected_gene': 'SHPK', 'score': 11.66}, {'connected_gene': 'NCBP3', 'score': 11.61}, {'connected_gene': 'OR1E2', 'score': 2.47}, {'connected_gene': 'HASPIN', 'score': 1.45}, {'connected_gene': 'GC17P003894', 'score': 0.77}]
chr17	GH17I003896	3896060	3897176	0.69	[{'connected_gene': 'CAMKK1', 'score': 555.37}, {'connected_gene': 'P2RX1', 'score': 7.16}, {'connected_gene': 'GC17P003894', 'score': 0.77}, {'connected_gene': 'GC17M003905', 'score': 0.37}]
chr17	GH17I003972	3972401	3972800	0.46	[{'connected_gene': 'CAMKK1', 'score': 11.18}, {'connected_gene': 'ATP2A3', 'score': 5.52}, {'connected_gene': 'CYB5D2', 'score': 4.78}, {'connected_gene': 'LINC01975', 'score': 0.77}]
chr17	GH17I003969	3968909	3969815	1.08	[{'connected_gene': 'CAMKK1', 'score': 11.19}, {'connected_gene': 'ATP2A3', 'score': 9.61}, {'connected_gene': 'LINC01975', 'score': 0.44}]
chr17	GH17I003957	3957768	3958635	0.46	[{'connected_gene': 'CAMKK1', 'score': 11.12}, {'connected_gene': 'ATP2A3', 'score': 5.34}, {'connected_gene': 'GC17P003938', 'score': 0.37}]
chr17	GH17I003956	3956787	3956936	0.63	[{'connected_gene': 'CAMKK1', 'score': 11.12}, {'connected_gene': 'ATP2A3', 'score': 0.44}, {'connected_gene': 'GC17P003938', 'score': 0.37}]
chr17	GH17I003958	3956527	3956676	0.51	[{'connected_gene': 'CAMKK1', 'score': 11.12}, {'connected_gene': 'LINC01975', 'score': 5.41}, {'connected_gene': 'ATP2A3', 'score': 0.44}, {'connected_gene': 'GC17P003938', 'score': 0.37}]
chr17	GH17I003859	3859886	3861130	0.38	[{'connected_gene': 'NCBP3', 'score': 0.39}, {'connected_gene': 'GC17P003894', 'score': 0.29}, {'connected_gene': 'CAMKK1', 'score': 0.29}]
chr17	GH17I003907	3907627	3907776	0.69	[{'connected_gene': 'NCBP3', 'score': 11.36}, {'connected_gene': 'ATP2A3', 'score': 10.99}, {'connected_gene': 'HASPIN', 'score': 10.36}, {'connected_gene': 'GC17M003905', 'score': 0.77}, {'connected_gene': 'P2RX1', 'score': 0.44}, {'connected_gene': 'CAMKK1', 'score': 0.39}]
chr17	GH17I003944	3944599	3945538	1.46	[{'connected_gene': 'P2RX1', 'score': 13.27}, {'connected_gene': 'CAMKK1', 'score': 12.07}, {'connected_gene': 'SHPK', 'score': 11.65}, {'connected_gene': 'CYB5D2', 'score': 5.77}, {'connected_gene': 'ATP2A3', 'score': 5.64}, {'connected_gene': 'GC17P003938', 'score': 0.44}]
chr17	GH17I003900	3900414	3901200	0.31	[{'connected_gene': 'P2RX1', 'score': 7.87}, {'connected_gene': 'GC17P003894', 'score': 0.44}, {'connected_gene': 'CAMKK1', 'score': 0.44}, {'connected_gene': 'GC17M003905', 'score': 0.39}]
chr17	GH17I003903	3903573	3905560	0.89	[{'connected_gene': 'P2RX1', 'score': 7.85}, {'connected_gene': 'CAMKK1', 'score': 0.44}, {'connected_gene': 'GC17M003905', 'score': 0.44}]
chr17	GH17I004006	4006441	4009862	0.78	[{'connected_gene': 'ATP2A3', 'score': 12.72}, {'connected_gene': 'CAMKK1', 'score': 11.57}, {'connected_gene': 'NCBP3', 'score': 11.14}, {'connected_gene': 'CYB5D2', 'score': 8.67}, {'connected_gene': 'GC17P004011', 'score': 0.77}, {'connected_gene': 'GC17P004012', 'score': 0.77}, {'connected_gene': 'GC17M003990', 'score': 0.37}, {'connected_gene': 'ZZEF1', 'score': 0.12}]
chr17	GH17I004045	4045554	4045851	0.2	[{'connected_gene': 'ATP2A3', 'score': 11.49}, {'connected_gene': 'CAMKK1', 'score': 11.15}, {'connected_gene': 'NCBP3', 'score': 10.82}, {'connected_gene': 'RNA5SP434', 'score': 0.39}, {'connected_gene': 'GC17M004011', 'score': 0.29}, {'connected_gene': 'ZZEF1', 'score': 0.15}]
chr17	GH17I004090	4090647	4091548	0.2	[{'connected_gene': 'ZZEF1', 'score': 18.66}, {'connected_gene': 'CYB5D2', 'score': 16.89}, {'connected_gene': 'CAMKK1', 'score': 11.17}, {'connected_gene': 'GC17P004083', 'score': 0.44}]
chr17	GH17I003528	3528491	3532326	1.43	[{'connected_gene': 'TRPV3', 'score': 40.69}, {'connected_gene': 'ASPA', 'score': 32.22}, {'connected_gene': 'OR1E2', 'score': 10.43}, {'connected_gene': 'CAMKK1', 'score': 3.36}, {'connected_gene': 'TRPV1', 'score': 3.19}, {'connected_gene': 'GC17M003518', 'score': 0.44}, {'connected_gene': 'SPATA22', 'score': 0.37}]
chr17	GH17I004042	4042972	4044276	0.38	[{'connected_gene': 'CYB5D2', 'score': 22.05}, {'connected_gene': 'CAMKK1', 'score': 11.96}, {'connected_gene': 'ATP2A3', 'score': 11.5}, {'connected_gene': 'ZZEF1', 'score': 10.91}, {'connected_gene': 'NCBP3', 'score': 10.91}, {'connected_gene': 'HASPIN', 'score': 10.29}, {'connected_gene': 'RNA5SP434', 'score': 0.39}, {'connected_gene': 'GC17M004011', 'score': 0.29}]
chr17	GH17I003970	3970832	3971484	0.52	[{'connected_gene': 'MYBBP1A', 'score': 13.65}, {'connected_gene': 'CAMKK1', 'score': 11.18}, {'connected_gene': 'LOC105371492', 'score': 10.06}, {'connected_gene': 'ATP2A3', 'score': 0.44}, {'connected_gene': 'LINC01975', 'score': 0.44}]
chr17	GH17I004001	4001927	4005488	1.26	[{'connected_gene': 'LOC101927979', 'score': 14.1}, {'connected_gene': 'LOC105371492', 'score': 12.83}, {'connected_gene': 'ATP2A3', 'score': 12.8}, {'connected_gene': 'ANKFY1', 'score': 12.63}, {'connected_gene': 'CAMKK1', 'score': 11.65}, {'connected_gene': 'MYBBP1A', 'score': 10.44}, {'connected_gene': 'CYB5D2', 'score': 8.7}, {'connected_gene': 'GC17P004011', 'score': 0.44}, {'connected_gene': 'GC17P004012', 'score': 0.44}, {'connected_gene': 'GC17M003990', 'score': 0.39}, {'connected_gene': 'ZZEF1', 'score': 0.12}]
chr17	GH17I003901	3901340	3902022	0.38	[{'connected_gene': 'GC17P003894', 'score': 0.44}, {'connected_gene': 'CAMKK1', 'score': 0.44}, {'connected_gene': 'P2RX1', 'score': 0.39}, {'connected_gene': 'GC17M003905', 'score': 0.39}]
chr17	GH17I003827	3827247	3827416	0.68	[{'connected_gene': 'GC17P003828', 'score': 550.77}, {'connected_gene': 'HASPIN', 'score': 12.51}, {'connected_gene': 'P2RX5', 'score': 11.59}, {'connected_gene': 'CAMKK1', 'score': 10.88}, {'connected_gene': 'GC17P003825', 'score': 0.77}, {'connected_gene': 'NCBP3', 'score': 0.37}]
chr17	GH17I003828	3827747	3829764	0.52	[{'connected_gene': 'GC17P003828', 'score': 550.77}, {'connected_gene': 'HASPIN', 'score': 12.51}, {'connected_gene': 'P2RX5', 'score': 11.59}, {'connected_gene': 'CAMKK1', 'score': 10.88}, {'connected_gene': 'NCBP3', 'score': 4.92}, {'connected_gene': 'GC17P003825', 'score': 0.77}]
chr17	GH17I003808	3808267	3809788	0.54	[{'connected_gene': 'GC17M003807', 'score': 550.77}, {'connected_gene': 'PIR46371', 'score': 550.77}, {'connected_gene': 'GC17M003810', 'score': 550.77}, {'connected_gene': 'NCBP3', 'score': 17.77}, {'connected_gene': 'HASPIN', 'score': 12.33}, {'connected_gene': 'CAMKK1', 'score': 10.86}]
chr17	GH17I003910	3910326	3912300	1.16	[{'connected_gene': 'GC17M003905', 'score': 550.77}, {'connected_gene': 'P2RX1', 'score': 21.37}, {'connected_gene': 'CAMKK1', 'score': 0.37}]
chr17	GH17I004300	4300931	4301330	0.59	[{'connected_gene': 'GC17P004302', 'score': 550.77}, {'connected_gene': 'MFSD1P1', 'score': 550.77}, {'connected_gene': 'ANKFY1', 'score': 11.4}, {'connected_gene': 'ASPA', 'score': 4.87}, {'connected_gene': 'CAMKK1', 'score': 1.71}, {'connected_gene': 'ENSG00000274363', 'score': 0.29}, {'connected_gene': 'UBE2G1', 'score': 0.2}]