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
ENST00000572418	[[3799885, 3801173], [3801302, 3801404], [3801777, 3801843], [3802227, 3802318], [3802927, 3803055], [3806495, 3806637], [3806844, 3807318], [3807623, 3807693], [3808151, 3808223], [3808513, 3808661], [3819382, 3819746]]	None
ENST00000225538	[[3799885, 3801173], [3801302, 3801404], [3801777, 3801843], [3802227, 3802318], [3802927, 3803055], [3806495, 3806637], [3806844, 3806925], [3807221, 3807318], [3807623, 3807693], [3808151, 3808223], [3808513, 3808661], [3819382, 3819794]]	[[3801107, 3801173], [3801302, 3801404], [3801777, 3801843], [3802227, 3802318], [3802927, 3803055], [3806495, 3806637], [3806844, 3806925], [3807221, 3807318], [3807623, 3807693], [3808151, 3808223], [3808513, 3808661], [3819382, 3819519]]
ENST00000576764	[[3807205, 3807318], [3807623, 3808037]]	None
ENST00000571637	[[3808556, 3808661], [3818639, 3819272], [3819382, 3819770]]	[[3819235, 3819272], [3819382, 3819519]]
NM_002558	[[3799884, 3801173], [3801302, 3801404], [3801777, 3801843], [3802227, 3802318], [3802927, 3803055], [3806495, 3806637], [3806844, 3806925], [3807221, 3807318], [3807623, 3807693], [3808151, 3808223], [3808513, 3808661], [3819382, 3819960]]	[[3801107, 3801173], [3801302, 3801404], [3801777, 3801843], [3802227, 3802318], [3802927, 3803055], [3806495, 3806637], [3806844, 3806925], [3807221, 3807318], [3807623, 3807693], [3808151, 3808223], [3808513, 3808661], [3819382, 3819519]]

Promoter

Chrom	Start	End	Description
chr17	3819751	3819767	CAGE_peak_1_at_P2RX1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
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	GH17I003791	3791400	3792200	1.18	[{'connected_gene': 'HASPIN', 'score': 11.98}, {'connected_gene': 'NCBP3', 'score': 11.47}, {'connected_gene': 'EMC6', 'score': 11.22}, {'connected_gene': 'TAX1BP3', 'score': 11.22}, {'connected_gene': 'CTNS', 'score': 2.97}, {'connected_gene': 'ZZEF1', 'score': 2.4}, {'connected_gene': 'P2RX1', 'score': 1.35}, {'connected_gene': 'ITGAE', 'score': 0.44}, {'connected_gene': 'ENSG00000262358', 'score': 0.21}]
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	GH17I003913	3913401	3919199	2.16	[{'connected_gene': 'P2RX1', 'score': 614.97}, {'connected_gene': 'ATP2A3', 'score': 7.23}, {'connected_gene': 'P2RX5', 'score': 6.88}, {'connected_gene': 'SMTNL2', 'score': 5.6}, {'connected_gene': 'ZZEF1', 'score': 3.57}, {'connected_gene': 'UBE2G1', 'score': 2.69}, {'connected_gene': 'GC17M003905', 'score': 0.77}]
chr17	GH17I003920	3920872	3922425	0.43	[{'connected_gene': 'P2RX1', 'score': 9.18}, {'connected_gene': 'GC17M003925', 'score': 0.37}]
chr17	GH17I003934	3934687	3935601	1.19	[{'connected_gene': 'ATP2A3', 'score': 5.97}, {'connected_gene': 'GC17M003925', 'score': 0.77}, {'connected_gene': 'P2RX1', 'score': 0.37}]
chr17	GH17I003929	3929273	3931643	0.52	[{'connected_gene': 'ATP2A3', 'score': 5.33}, {'connected_gene': 'GC17M003925', 'score': 0.44}, {'connected_gene': 'P2RX1', 'score': 0.39}]
chr17	GH17I003959	3959060	3968077	2.72	[{'connected_gene': 'ATP2A3', 'score': 559.89}, {'connected_gene': 'ZZEF1', 'score': 16.44}, {'connected_gene': 'NCBP3', 'score': 10.73}, {'connected_gene': 'CYB5D2', 'score': 10.27}, {'connected_gene': 'LINC01975', 'score': 6.78}, {'connected_gene': 'P2RX1', 'score': 4.93}, {'connected_gene': 'CTNS', 'score': 1.54}, {'connected_gene': 'GC17P003938', 'score': 0.34}]
chr17	GH17I003798	3798002	3806070	2.16	[{'connected_gene': 'ITGAE', 'score': 550.77}, {'connected_gene': 'HASPIN', 'score': 11.95}, {'connected_gene': 'P2RX5', 'score': 11.53}, {'connected_gene': 'NCBP3', 'score': 5.11}, {'connected_gene': 'ZZEF1', 'score': 3.18}, {'connected_gene': 'CTNS', 'score': 2.55}, {'connected_gene': 'P2RX1', 'score': 1.72}, {'connected_gene': 'GC17M003807', 'score': 0.44}]
chr17	GH17I003924	3924095	3928937	0.88	[{'connected_gene': 'PELP1', 'score': 10.99}, {'connected_gene': 'ANKFY1', 'score': 10.87}, {'connected_gene': 'ATP2A3', 'score': 5.5}, {'connected_gene': 'P2RX1', 'score': 4.94}, {'connected_gene': 'GC17M003925', 'score': 0.39}]
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	GH17I003910	3910326	3912300	1.16	[{'connected_gene': 'GC17M003905', 'score': 550.77}, {'connected_gene': 'P2RX1', 'score': 21.37}, {'connected_gene': 'CAMKK1', 'score': 0.37}]
chr17	GH17I004013	4013702	4015354	0.84	[{'connected_gene': 'GC17M004011', 'score': 550.77}, {'connected_gene': 'P2RX1', 'score': 12.42}, {'connected_gene': 'ATP2A3', 'score': 12.01}, {'connected_gene': 'NCBP3', 'score': 11.39}, {'connected_gene': 'ANKFY1', 'score': 5.55}, {'connected_gene': 'GC17P004011', 'score': 0.77}, {'connected_gene': 'GC17P004013', 'score': 0.77}, {'connected_gene': 'GC17P004012', 'score': 0.77}, {'connected_gene': 'RNA5SP434', 'score': 0.26}, {'connected_gene': 'ZZEF1', 'score': 0.13}]
chr17	GH17I004174	4174587	4180062	0.83	[{'connected_gene': 'PIR52300', 'score': 550.77}, {'connected_gene': 'ZZEF1', 'score': 15.9}, {'connected_gene': 'CYB5D2', 'score': 7.43}, {'connected_gene': 'ATP2A3', 'score': 5.71}, {'connected_gene': 'TM4SF5', 'score': 4.47}, {'connected_gene': 'UBE2G1', 'score': 3.43}, {'connected_gene': 'P2RX1', 'score': 2.97}, {'connected_gene': 'NCBP3', 'score': 1.3}, {'connected_gene': 'PIR35722', 'score': 0.77}, {'connected_gene': 'GC17M004177', 'score': 0.77}, {'connected_gene': 'ANKFY1', 'score': 0.17}]
chr17	GH17I004301	4301853	4302458	0.47	[{'connected_gene': 'GC17P004302', 'score': 550.77}, {'connected_gene': 'MFSD1P1', 'score': 550.77}, {'connected_gene': 'ANKFY1', 'score': 11.71}, {'connected_gene': 'CYB5D2', 'score': 7.62}, {'connected_gene': 'ZZEF1', 'score': 4.59}, {'connected_gene': 'ATP2A3', 'score': 2.93}, {'connected_gene': 'ARRB2', 'score': 2.15}, {'connected_gene': 'ZMYND15', 'score': 1.97}, {'connected_gene': 'UBE2G1', 'score': 1.76}, {'connected_gene': 'SMTNL2', 'score': 1.27}, {'connected_gene': 'P2RX1', 'score': 1.27}, {'connected_gene': 'GC17P004330', 'score': 0.31}]