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
ENST00000312251	[[5074844, 5075686], [5077135, 5077199], [5077278, 5077380], [5077846, 5077894], [5077980, 5078186], [5078880, 5079009], [5080385, 5080494], [5081745, 5081885], [5083273, 5083729], [5083829, 5083935]]	[[5075478, 5075686], [5077135, 5077199], [5077278, 5077380], [5077846, 5077894], [5077980, 5078186], [5078880, 5079009], [5080385, 5080494], [5081745, 5081885], [5083273, 5083729], [5083829, 5083915]]
ENST00000381955	[[5074844, 5075686], [5077135, 5077199], [5077846, 5077894], [5077980, 5078186], [5078880, 5079009], [5080385, 5080494], [5081745, 5081885], [5083273, 5083729], [5083829, 5083935]]	[[5075478, 5075686], [5077135, 5077199], [5077846, 5077894], [5077980, 5078186], [5078880, 5079009], [5080385, 5080494], [5081745, 5081885], [5083273, 5083729], [5083829, 5083915]]
ENST00000564397	[[5074872, 5075686], [5077135, 5077380], [5077846, 5077894], [5077980, 5080159]]	None
ENST00000562746	[[5074872, 5075686], [5077135, 5077199], [5077278, 5077380], [5077846, 5077894], [5077980, 5078186], [5078297, 5078399], [5078880, 5079009], [5080385, 5080494], [5081745, 5081885], [5083273, 5083729], [5083829, 5083919]]	[[5078389, 5078399], [5078880, 5079009], [5080385, 5080494], [5081745, 5081885], [5083273, 5083729], [5083829, 5083915]]
ENST00000568202	[[5074910, 5075550], [5077135, 5077199], [5077278, 5077380], [5077846, 5077894], [5077980, 5078186], [5078880, 5079009], [5083273, 5083927]]	None
ENST00000563578	[[5074930, 5075686], [5078880, 5079009], [5080385, 5080494], [5081745, 5081885], [5083273, 5083633]]	[[5075478, 5075686], [5078880, 5079009], [5080385, 5080494], [5081745, 5081885], [5083273, 5083633]]
ENST00000566137	[[5077278, 5077380], [5077846, 5077894], [5077980, 5078404]]	None
ENST00000567739	[[5077290, 5077380], [5077846, 5077894], [5077980, 5078186], [5078880, 5079119]]	None
ENST00000569296	[[5077301, 5077380], [5077846, 5077894], [5077980, 5078186], [5078297, 5078366], [5078880, 5079009], [5080385, 5080494], [5081745, 5081885], [5083273, 5083359]]	[[5078311, 5078366], [5078880, 5079009], [5080385, 5080494], [5081745, 5081885], [5083273, 5083359]]
ENST00000565876	[[5077316, 5077380], [5080385, 5080494], [5081745, 5081885], [5082991, 5083156], [5083273, 5083339]]	[[5083101, 5083156], [5083273, 5083339]]
ENST00000568528	[[5078072, 5078615]]	None
ENST00000562346	[[5078120, 5078186], [5081745, 5081885], [5083273, 5083637]]	[[5078120, 5078186], [5081745, 5081885], [5083273, 5083637]]
ENST00000562037	[[5078946, 5079009], [5080385, 5080494], [5081745, 5081885], [5083341, 5083644]]	[[5081873, 5081885], [5083341, 5083644]]
ENST00000569793	[[5080314, 5080652]]	None
ENST00000591478	[[5080442, 5080494], [5083273, 5083629]]	None
ENST00000561580	[[5081028, 5081885], [5083341, 5083729], [5083829, 5083940]]	None
ENST00000564922	[[5081843, 5081885], [5083341, 5083729], [5083999, 5084142]]	None
NM_016256	[[5074844, 5075686], [5077135, 5077199], [5077278, 5077380], [5077846, 5077894], [5077980, 5078186], [5078880, 5079009], [5080385, 5080494], [5081745, 5081885], [5083273, 5083729], [5083829, 5083942]]	[[5075478, 5075686], [5077135, 5077199], [5077278, 5077380], [5077846, 5077894], [5077980, 5078186], [5078880, 5079009], [5080385, 5080494], [5081745, 5081885], [5083273, 5083729], [5083829, 5083915]]

Promoter

Chrom	Start	End	Description
chr16	5083556	5083581	CAGE_peak_3_at_NAGPA_5end
chr16	5083589	5083654	CAGE_peak_2_at_NAGPA_5end
chr16	5083917	5083947	CAGE_peak_1_at_NAGPA_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I005042	5042600	5042629	0.66	[{'connected_gene': 'ALG1', 'score': 0.44}, {'connected_gene': 'NAGPA', 'score': 0.44}, {'connected_gene': 'C16orf89', 'score': 0.34}, {'connected_gene': 'NAGPA-AS1', 'score': 0.29}]
chr16	GH16I005032	5032547	5037549	2.49	[{'connected_gene': 'NAGPA', 'score': 560.03}, {'connected_gene': 'ALG1', 'score': 550.77}, {'connected_gene': 'ZNF500', 'score': 17.89}, {'connected_gene': 'C16orf89', 'score': 12.75}, {'connected_gene': 'CDIP1', 'score': 11.22}, {'connected_gene': 'PPL', 'score': 10.19}, {'connected_gene': 'NAGPA-AS1', 'score': 0.34}]
chr16	GH16I005027	5026584	5029551	0.43	[{'connected_gene': 'NAGPA', 'score': 12.69}, {'connected_gene': 'C16orf89', 'score': 11.83}, {'connected_gene': 'GLYR1', 'score': 10.39}, {'connected_gene': 'UBN1', 'score': 10.39}, {'connected_gene': 'SEC14L5', 'score': 8.17}, {'connected_gene': 'GC16M005030', 'score': 0.77}, {'connected_gene': 'NAGPA-AS1', 'score': 0.37}]
chr16	GH16I004658	4658914	4666191	1.6	[{'connected_gene': 'MGRN1', 'score': 33.31}, {'connected_gene': 'NUDT16L1', 'score': 13.02}, {'connected_gene': 'PPL', 'score': 10.55}, {'connected_gene': 'SEPT12', 'score': 4.72}, {'connected_gene': 'CORO7', 'score': 1.94}, {'connected_gene': 'GLYR1', 'score': 1.61}, {'connected_gene': 'NAGPA', 'score': 1.31}, {'connected_gene': 'ENSG00000278700', 'score': 0.77}, {'connected_gene': 'MIR6769A', 'score': 0.44}]
chr16	GH16I005025	5025440	5025589	0.76	[{'connected_gene': 'C16orf89', 'score': 11.82}, {'connected_gene': 'GLYR1', 'score': 10.4}, {'connected_gene': 'UBN1', 'score': 10.4}, {'connected_gene': 'SEC14L5', 'score': 8.44}, {'connected_gene': 'NAGPA', 'score': 0.44}, {'connected_gene': 'GC16M005030', 'score': 0.44}, {'connected_gene': 'NAGPA-AS1', 'score': 0.39}]
chr16	GH16I005043	5041980	5042129	0.76	[{'connected_gene': 'C16orf89', 'score': 14.13}, {'connected_gene': 'ALG1', 'score': 0.44}, {'connected_gene': 'NAGPA', 'score': 0.44}, {'connected_gene': 'NAGPA-AS1', 'score': 0.29}]
chr16	GH16I005041	5041760	5041909	0.76	[{'connected_gene': 'C16orf89', 'score': 14.13}, {'connected_gene': 'ALG1', 'score': 0.44}, {'connected_gene': 'NAGPA', 'score': 0.44}, {'connected_gene': 'NAGPA-AS1', 'score': 0.29}]
chr16	GH16I005060	5060960	5060971	0.22	[{'connected_gene': 'C16orf89', 'score': 0.44}, {'connected_gene': 'ALG1', 'score': 0.31}, {'connected_gene': 'NAGPA', 'score': 0.31}]
chr16	GH16I005058	5058335	5059078	0.49	[{'connected_gene': 'C16orf89', 'score': 4.96}, {'connected_gene': 'ALG1', 'score': 0.34}, {'connected_gene': 'NAGPA', 'score': 0.34}]
chr16	GH16I005056	5056500	5056589	0.64	[{'connected_gene': 'C16orf89', 'score': 0.44}, {'connected_gene': 'ALG1', 'score': 0.34}, {'connected_gene': 'NAGPA', 'score': 0.34}]
chr16	GH16I005059	5059471	5060386	0.38	[{'connected_gene': 'C16orf89', 'score': 5.21}, {'connected_gene': 'ALG1', 'score': 0.31}, {'connected_gene': 'NAGPA', 'score': 0.31}]
chr16	GH16I005026	5025001	5025201	0.72	[{'connected_gene': 'C16orf89', 'score': 11.44}, {'connected_gene': 'NAGPA', 'score': 0.44}, {'connected_gene': 'GC16M005030', 'score': 0.44}, {'connected_gene': 'NAGPA-AS1', 'score': 0.39}]
chr16	GH16I005024	5024700	5024909	0.72	[{'connected_gene': 'C16orf89', 'score': 11.44}, {'connected_gene': 'NAGPA', 'score': 0.44}, {'connected_gene': 'GC16M005030', 'score': 0.44}, {'connected_gene': 'NAGPA-AS1', 'score': 0.39}]
chr16	GH16I005020	5020006	5020704	0.54	[{'connected_gene': 'C16orf89', 'score': 11.43}, {'connected_gene': 'NAGPA', 'score': 6.51}, {'connected_gene': 'NAGPA-AS1', 'score': 0.44}, {'connected_gene': 'GC16M005030', 'score': 0.39}]
chr16	GH16I005064	5064694	5066041	1.35	[{'connected_gene': 'C16orf89', 'score': 574.66}, {'connected_gene': 'ZNF500', 'score': 13.43}, {'connected_gene': 'ALG1', 'score': 0.29}, {'connected_gene': 'NAGPA', 'score': 0.29}]
chr16	GH16I005010	5010431	5012741	0.52	[{'connected_gene': 'NAGPA-AS1', 'score': 550.77}, {'connected_gene': 'SEC14L5', 'score': 11.46}, {'connected_gene': 'NAGPA', 'score': 5.82}, {'connected_gene': 'GC16M005030', 'score': 0.37}]
chr16	GH16I005207	5207001	5207400	0.76	[{'connected_gene': 'GC16P005208', 'score': 550.77}, {'connected_gene': 'NAGPA', 'score': 5.12}, {'connected_gene': 'GC16P005204', 'score': 0.77}, {'connected_gene': 'LOC105371067', 'score': 0.44}, {'connected_gene': 'LINC02164', 'score': 0.39}]
chr16	GH16I005029	5029705	5030969	0.38	[{'connected_gene': 'GC16M005030', 'score': 550.77}, {'connected_gene': 'C16orf89', 'score': 11.83}, {'connected_gene': 'GLYR1', 'score': 10.39}, {'connected_gene': 'UBN1', 'score': 10.39}, {'connected_gene': 'NAGPA', 'score': 8.24}, {'connected_gene': 'NAGPA-AS1', 'score': 0.37}]