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
ENST00000580749	[[72931813, 72932035], [72937487, 72937904], [72937995, 72938132], [72939380, 72939439], [72939700, 72939819], [72942755, 72943570], [72945340, 72946087]]	[[72931866, 72932007]]
ENST00000328801	[[72931896, 72932002], [72937520, 72937904], [72937995, 72938132], [72939380, 72939439], [72939700, 72939819], [72942755, 72943570], [72945340, 72946083]]	[[72931896, 72932002], [72937520, 72937904], [72937995, 72938132], [72939380, 72939439], [72939700, 72939819], [72942755, 72943570], [72945340, 72945511]]
NM_178233	[[72931896, 72932002], [72937520, 72937904], [72937995, 72938132], [72939380, 72939439], [72939700, 72939819], [72942755, 72943570], [72945340, 72946087]]	[[72931896, 72932002], [72937520, 72937904], [72937995, 72938132], [72939380, 72939439], [72939700, 72939819], [72942755, 72943570], [72945340, 72945511]]
NM_001272005	[[72931896, 72932035], [72937487, 72937904], [72937995, 72938132], [72939380, 72939439], [72939700, 72939819], [72942755, 72943570], [72945340, 72946087]]	[[72932016, 72932035], [72937487, 72937904], [72937995, 72938132], [72939380, 72939439], [72939700, 72939819], [72942755, 72943570], [72945340, 72945511]]

Promoter

Chrom	Start	End	Description
chr17	72931876	72931881	CAGE_peak_3_at_OTOP3_5end
chr17	72931942	72931981	CAGE_peak_1_at_OTOP3_5end
chr17	72931987	72931999	CAGE_peak_2_at_OTOP3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I074937	74937924	74939476	0.57	[{'connected_gene': 'OTOP3', 'score': 6.07}, {'connected_gene': 'GRIN2C', 'score': 5.31}, {'connected_gene': 'GC17M074966', 'score': 0.29}]
chr17	GH17I075003	75003392	75003654	0.31	[{'connected_gene': 'OTOP3', 'score': 11.06}, {'connected_gene': 'KCTD2', 'score': 10.53}, {'connected_gene': 'ATP5PD', 'score': 10.48}, {'connected_gene': 'MRPL58', 'score': 6.88}, {'connected_gene': 'PIR50215', 'score': 0.77}, {'connected_gene': 'GC17M075008', 'score': 0.44}, {'connected_gene': 'CDR2L', 'score': 0.37}]
chr17	GH17I074910	74910863	74913092	0.46	[{'connected_gene': 'OTOP3', 'score': 13.0}, {'connected_gene': 'FDXR', 'score': 11.75}, {'connected_gene': 'GC17P074914', 'score': 0.77}, {'connected_gene': 'GC17M074889', 'score': 0.39}]
chr17	GH17I074935	74935849	74935908	0.68	[{'connected_gene': 'OTOP3', 'score': 550.77}, {'connected_gene': 'GC17M074966', 'score': 0.29}]
chr17	GH17I074790	74790801	74791926	1.12	[{'connected_gene': 'RAB37', 'score': 19.61}, {'connected_gene': 'GRIN2C', 'score': 12.62}, {'connected_gene': 'SLC9A3R1', 'score': 11.72}, {'connected_gene': 'FDXR', 'score': 11.3}, {'connected_gene': 'FADS6', 'score': 11.28}, {'connected_gene': 'OTOP3', 'score': 11.06}, {'connected_gene': 'CD300LF', 'score': 10.41}, {'connected_gene': 'TMEM104', 'score': 6.57}, {'connected_gene': 'PIR51683', 'score': 0.39}]
chr17	GH17I074963	74963929	74965733	0.49	[{'connected_gene': 'CDR2L', 'score': 6.24}, {'connected_gene': 'GC17M074966', 'score': 0.77}, {'connected_gene': 'HID1', 'score': 0.44}, {'connected_gene': 'OTOP3', 'score': 0.31}]
chr17	GH17I075020	75020090	75021062	0.77	[{'connected_gene': 'CDR2L', 'score': 16.74}, {'connected_gene': 'HID1', 'score': 12.66}, {'connected_gene': 'ATP5PD', 'score': 11.9}, {'connected_gene': 'OTOP3', 'score': 11.27}, {'connected_gene': 'MRPL58', 'score': 7.25}, {'connected_gene': 'MYO15B', 'score': 5.72}, {'connected_gene': 'GC17M075029', 'score': 0.44}]
chr17	GH17I074797	74797619	74799232	0.38	[{'connected_gene': 'GRIN2C', 'score': 24.63}, {'connected_gene': 'SLC9A3R1', 'score': 11.07}, {'connected_gene': 'RAB37', 'score': 10.95}, {'connected_gene': 'OTOP3', 'score': 10.75}, {'connected_gene': 'PIR51683', 'score': 0.44}, {'connected_gene': 'TMEM104', 'score': 0.34}]
chr17	GH17I074943	74943174	74945124	0.49	[{'connected_gene': 'GRIN2C', 'score': 5.69}, {'connected_gene': 'OTOP3', 'score': 0.44}, {'connected_gene': 'GC17M074966', 'score': 0.31}]
chr17	GH17I074960	74960466	74962001	1.4	[{'connected_gene': 'TSEN54', 'score': 14.34}, {'connected_gene': 'ARMC7', 'score': 10.82}, {'connected_gene': 'HID1', 'score': 10.19}, {'connected_gene': 'MRPL58', 'score': 5.2}, {'connected_gene': 'GC17M074966', 'score': 0.44}, {'connected_gene': 'OTOP3', 'score': 0.31}]
chr17	GH17I074974	74974377	74975652	0.63	[{'connected_gene': 'HID1', 'score': 550.77}, {'connected_gene': 'OTOP3', 'score': 11.62}, {'connected_gene': 'MRPL58', 'score': 11.55}, {'connected_gene': 'RNU6-362P', 'score': 11.18}, {'connected_gene': 'FADS6', 'score': 11.12}, {'connected_gene': 'FDXR', 'score': 11.09}, {'connected_gene': 'KCTD2', 'score': 10.48}, {'connected_gene': 'ATP5PD', 'score': 10.45}, {'connected_gene': 'HID1-AS1', 'score': 0.77}, {'connected_gene': 'GC17P074982', 'score': 0.44}]
chr17	GH17I074962	74962831	74963496	0.31	[{'connected_gene': 'HID1', 'score': 17.19}, {'connected_gene': 'GC17M074966', 'score': 0.44}, {'connected_gene': 'OTOP3', 'score': 0.31}]
chr17	GH17I074989	74989929	74993991	1.18	[{'connected_gene': 'HID1', 'score': 14.42}, {'connected_gene': 'RNU6-362P', 'score': 11.19}, {'connected_gene': 'OTOP3', 'score': 11.05}, {'connected_gene': 'KCTD2', 'score': 10.78}, {'connected_gene': 'ATP5PD', 'score': 10.74}, {'connected_gene': 'FADS6', 'score': 10.58}, {'connected_gene': 'MRPL58', 'score': 5.54}, {'connected_gene': 'CDR2L', 'score': 0.77}, {'connected_gene': 'GC17M074998', 'score': 0.44}]
chr17	GH17I074969	74969954	74973349	2.14	[{'connected_gene': 'HID1', 'score': 570.86}, {'connected_gene': 'HID1-AS1', 'score': 550.77}, {'connected_gene': 'GC17M074966', 'score': 550.77}, {'connected_gene': 'OTOP3', 'score': 11.99}, {'connected_gene': 'RNU6-362P', 'score': 11.09}, {'connected_gene': 'KCTD2', 'score': 11.09}, {'connected_gene': 'ATP5PD', 'score': 11.06}]
chr17	GH17I074952	74952285	74954191	0.74	[{'connected_gene': 'FADS6', 'score': 11.4}, {'connected_gene': 'CDR2L', 'score': 10.95}, {'connected_gene': 'FDXR', 'score': 10.86}, {'connected_gene': 'KCTD2', 'score': 10.46}, {'connected_gene': 'ATP5PD', 'score': 10.44}, {'connected_gene': 'GRIN2C', 'score': 10.36}, {'connected_gene': 'GC17M074966', 'score': 0.37}, {'connected_gene': 'OTOP3', 'score': 0.37}, {'connected_gene': 'HID1', 'score': 0.37}]
chr17	GH17I074949	74949468	74951379	0.6	[{'connected_gene': 'NAT9', 'score': 12.46}, {'connected_gene': 'FADS6', 'score': 11.4}, {'connected_gene': 'HID1', 'score': 11.08}, {'connected_gene': 'CDR2L', 'score': 10.93}, {'connected_gene': 'FDXR', 'score': 10.87}, {'connected_gene': 'KCTD2', 'score': 10.46}, {'connected_gene': 'ATP5PD', 'score': 10.43}, {'connected_gene': 'GRIN2C', 'score': 10.37}, {'connected_gene': 'ENSG00000267342', 'score': 9.97}, {'connected_gene': 'TTYH2', 'score': 5.11}, {'connected_gene': 'OTOP3', 'score': 0.39}, {'connected_gene': 'GC17M074966', 'score': 0.37}]
chr17	GH17I074924	74924253	74924312	0.82	[{'connected_gene': 'USH1G', 'score': 550.77}, {'connected_gene': 'OTOP2', 'score': 550.77}, {'connected_gene': 'OTOP3', 'score': 0.39}]
chr17	GH17I074923	74923606	74923755	0.89	[{'connected_gene': 'USH1G', 'score': 550.77}, {'connected_gene': 'OTOP2', 'score': 550.77}, {'connected_gene': 'OTOP3', 'score': 0.39}]
chr17	GH17I074925	74923245	74923304	1.04	[{'connected_gene': 'USH1G', 'score': 550.77}, {'connected_gene': 'OTOP2', 'score': 550.77}, {'connected_gene': 'OTOP3', 'score': 0.39}]
chr17	GH17I074967	74967792	74969546	0.79	[{'connected_gene': 'GC17M074966', 'score': 550.77}, {'connected_gene': 'OTOP3', 'score': 12.01}, {'connected_gene': 'KCTD2', 'score': 11.09}, {'connected_gene': 'RNU6-362P', 'score': 11.08}, {'connected_gene': 'ATP5PD', 'score': 11.06}, {'connected_gene': 'TTYH2', 'score': 6.71}, {'connected_gene': 'HID1', 'score': 0.77}]
chr17	GH17I074958	74958026	74958175	0.69	[{'connected_gene': 'GC17M074966', 'score': 0.39}, {'connected_gene': 'HID1', 'score': 0.37}, {'connected_gene': 'OTOP3', 'score': 0.34}]
chr17	GH17I074998	74998105	74999032	0.2	[{'connected_gene': 'GC17M074998', 'score': 550.77}, {'connected_gene': 'PIR50215', 'score': 550.77}, {'connected_gene': 'PIR34370', 'score': 550.77}, {'connected_gene': 'RNU6-362P', 'score': 11.2}, {'connected_gene': 'OTOP3', 'score': 11.06}, {'connected_gene': 'KCTD2', 'score': 10.81}, {'connected_gene': 'ATP5PD', 'score': 10.77}, {'connected_gene': 'FADS6', 'score': 10.57}, {'connected_gene': 'CDR2L', 'score': 0.39}]