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
ENST00000378060	[[52986736, 52990058], [52990151, 52990228], [52991191, 52991276], [52992126, 52992191], [52997708, 52997774], [53000066, 53000201], [53001123, 53001201], [53001321, 53001354], [53007796, 53007883], [53008927, 53009017], [53010424, 53010539], [53013232, 53013303], [53016511, 53016580], [53024633, 53024757]]	[[52989964, 52990058], [52990151, 52990228], [52991191, 52991276], [52992126, 52992191], [52997708, 52997774], [53000066, 53000201], [53001123, 53001201], [53001321, 53001354], [53007796, 53007883], [53008927, 53009017], [53010424, 53010539], [53013232, 53013303], [53016511, 53016580], [53024633, 53024729]]
ENST00000497149	[[52987288, 52987361], [52990151, 52990442]]	None
ENST00000462289	[[52989659, 52990058], [52990151, 52990296]]	None
ENST00000492650	[[52999904, 53000201], [53001123, 53001201], [53001321, 53001354], [53003370, 53003502]]	None
ENST00000480923	[[53008972, 53009017], [53010424, 53010539], [53013232, 53013303], [53016511, 53016580], [53024065, 53024379]]	None
ENST00000475375	[[53010055, 53010539], [53013232, 53013303], [53016511, 53016580], [53024633, 53024763]]	None
NM_001282169	[[52986736, 52990058], [52990151, 52990228], [52991191, 52991276], [52992126, 52992191], [52997708, 52997774], [53000066, 53000201], [53001123, 53001201], [53001321, 53001354], [53007796, 53007883], [53008927, 53009017], [53010424, 53010539], [53013232, 53013303], [53016511, 53016580], [53024065, 53024379]]	[[52989964, 52990058], [52990151, 52990228], [52991191, 52991276], [52992126, 52992191], [52997708, 52997774], [53000066, 53000201], [53001123, 53001201], [53001321, 53001354], [53007796, 53007883], [53008927, 53009017], [53010424, 53010539], [53013232, 53013294]]
NM_016075	[[52986736, 52990058], [52990151, 52990228], [52991191, 52991276], [52992126, 52992191], [52997708, 52997774], [53000066, 53000201], [53001123, 53001201], [53001321, 53001354], [53007796, 53007883], [53008927, 53009017], [53010424, 53010539], [53013232, 53013303], [53016511, 53016580], [53024633, 53024813]]	[[52989964, 52990058], [52990151, 52990228], [52991191, 52991276], [52992126, 52992191], [52997708, 52997774], [53000066, 53000201], [53001123, 53001201], [53001321, 53001354], [53007796, 53007883], [53008927, 53009017], [53010424, 53010539], [53013232, 53013303], [53016511, 53016580], [53024633, 53024729]]
NM_001282168	[[52986736, 52990058], [52990151, 52990228], [52991191, 52991276], [52992126, 52992191], [52997708, 52997774], [53000066, 53000201], [53001123, 53001201], [53001321, 53001354], [53007796, 53007883], [53008927, 53009017], [53010424, 53010539], [53013232, 53013303], [53016511, 53016580], [53024660, 53024813]]	[[52989964, 52990058], [52990151, 52990228], [52991191, 52991276], [52992126, 52992191], [52997708, 52997774], [53000066, 53000201], [53001123, 53001201], [53001321, 53001354], [53007796, 53007883], [53008927, 53009017], [53010424, 53010539], [53013232, 53013303], [53016511, 53016580], [53024660, 53024729]]

Promoter

Chrom	Start	End	Description
chr13	53024725	53024809	CAGE_peak_1_at_VPS36_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr13	GH13I051839	51839364	51840062	0.31	[{'connected_gene': 'CCDC70', 'score': 13.21}, {'connected_gene': 'DHRS12', 'score': 11.63}, {'connected_gene': 'ENSG00000231856', 'score': 11.63}, {'connected_gene': 'ALG11', 'score': 10.22}, {'connected_gene': 'UTP14C', 'score': 10.21}, {'connected_gene': 'NEK5', 'score': 9.95}, {'connected_gene': 'FAM124A', 'score': 9.2}, {'connected_gene': 'VPS36', 'score': 4.72}, {'connected_gene': 'TMEM272', 'score': 0.44}]
chr13	GH13I052410	52410940	52412607	0.63	[{'connected_gene': 'TPTE2P2', 'score': 15.19}, {'connected_gene': 'VPS36', 'score': 5.54}, {'connected_gene': 'THSD1', 'score': 0.44}]
chr13	GH13I052446	52446406	52446555	0.77	[{'connected_gene': 'TPTE2P2', 'score': 15.14}, {'connected_gene': 'CKAP2', 'score': 5.42}, {'connected_gene': 'VPS36', 'score': 0.77}, {'connected_gene': 'THSD1', 'score': 0.28}]
chr13	GH13I052427	52427089	52430047	0.64	[{'connected_gene': 'VPS36', 'score': 32.7}, {'connected_gene': 'TPTE2P2', 'score': 15.16}, {'connected_gene': 'THSD1', 'score': 12.58}, {'connected_gene': 'CKAP2', 'score': 12.21}, {'connected_gene': 'UTP14C', 'score': 9.54}, {'connected_gene': 'ALG11', 'score': 9.54}, {'connected_gene': 'NEK5', 'score': 6.74}]
chr13	GH13I052413	52413935	52416517	0.31	[{'connected_gene': 'VPS36', 'score': 32.25}, {'connected_gene': 'TPTE2P2', 'score': 15.18}, {'connected_gene': 'THSD1', 'score': 0.44}]
chr13	GH13I051943	51943495	51944482	0.38	[{'connected_gene': 'VPS36', 'score': 11.82}, {'connected_gene': 'ATP7B', 'score': 11.47}, {'connected_gene': 'ALG11', 'score': 11.47}, {'connected_gene': 'UTP14C', 'score': 11.34}, {'connected_gene': 'CCDC70', 'score': 10.69}, {'connected_gene': 'ENSG00000279677', 'score': 0.34}, {'connected_gene': 'FABP5P2', 'score': 0.34}]
chr13	GH13I051941	51941826	51942769	0.51	[{'connected_gene': 'VPS36', 'score': 11.85}, {'connected_gene': 'ATP7B', 'score': 11.47}, {'connected_gene': 'ALG11', 'score': 11.46}, {'connected_gene': 'UTP14C', 'score': 11.34}, {'connected_gene': 'NEK3', 'score': 11.21}, {'connected_gene': 'CCDC70', 'score': 10.69}, {'connected_gene': 'ENSG00000279677', 'score': 0.34}, {'connected_gene': 'FABP5P2', 'score': 0.34}]
chr13	GH13I052448	52448292	52451295	2.23	[{'connected_gene': 'VPS36', 'score': 576.07}, {'connected_gene': 'CKAP2', 'score': 36.75}, {'connected_gene': 'TPTE2P2', 'score': 15.47}, {'connected_gene': 'THSD1', 'score': 11.8}]
chr13	GH13I051957	51957305	51961243	0.96	[{'connected_gene': 'NEK3', 'score': 14.27}, {'connected_gene': 'VPS36', 'score': 12.37}, {'connected_gene': 'ATP7B', 'score': 10.35}, {'connected_gene': 'TPTE2P2', 'score': 9.48}, {'connected_gene': 'FABP5P2', 'score': 0.44}, {'connected_gene': 'ENSG00000279677', 'score': 0.28}]
chr13	GH13I051954	51954772	51956474	0.66	[{'connected_gene': 'NEK3', 'score': 14.85}, {'connected_gene': 'VPS36', 'score': 12.16}, {'connected_gene': 'ATP7B', 'score': 9.57}, {'connected_gene': 'TPTE2P2', 'score': 9.45}, {'connected_gene': 'FABP5P2', 'score': 0.39}, {'connected_gene': 'ENSG00000279677', 'score': 0.29}]
chr13	GH13I052186	52186866	52189207	1.03	[{'connected_gene': 'NEK3', 'score': 18.07}, {'connected_gene': 'NEK5', 'score': 10.74}, {'connected_gene': 'CCDC70', 'score': 10.52}, {'connected_gene': 'ALG11', 'score': 10.5}, {'connected_gene': 'VPS36', 'score': 10.48}, {'connected_gene': 'ATP7B', 'score': 10.46}, {'connected_gene': 'DHRS12', 'score': 10.04}, {'connected_gene': 'ENSG00000231856', 'score': 10.04}, {'connected_gene': 'ENSG00000244471', 'score': 5.28}, {'connected_gene': 'MRPS31P5', 'score': 0.44}, {'connected_gene': 'PIR59389', 'score': 0.37}, {'connected_gene': 'ENSG00000217576', 'score': 0.15}]
chr13	GH13I051519	51519528	51521042	0.98	[{'connected_gene': 'ALG11', 'score': 12.78}, {'connected_gene': 'SERPINE3', 'score': 10.8}, {'connected_gene': 'VPS36', 'score': 9.73}, {'connected_gene': 'SNRPGP11', 'score': 0.34}, {'connected_gene': 'MIR4703', 'score': 0.29}, {'connected_gene': 'INTS6-AS1', 'score': 0.2}]
chr13	GH13I051604	51604553	51607887	0.38	[{'connected_gene': 'WDFY2', 'score': 10.42}, {'connected_gene': 'DHRS12', 'score': 4.69}, {'connected_gene': 'VPS36', 'score': 3.93}, {'connected_gene': 'ATP5PBP1', 'score': 0.44}, {'connected_gene': 'PIR45932', 'score': 0.1}]
chr13	GH13I052193	52193319	52196000	2.06	[{'connected_gene': 'MRPS31P5', 'score': 570.55}, {'connected_gene': 'ALG11', 'score': 54.8}, {'connected_gene': 'RPS4XP16', 'score': 40.0}, {'connected_gene': 'UTP14C', 'score': 38.07}, {'connected_gene': 'SUGT1', 'score': 38.02}, {'connected_gene': 'CKAP2', 'score': 34.32}, {'connected_gene': 'INTS6', 'score': 27.12}, {'connected_gene': 'SERPINE3', 'score': 22.39}, {'connected_gene': 'INTS6-AS1', 'score': 21.06}, {'connected_gene': 'TPTE2P2', 'score': 15.11}, {'connected_gene': 'NEK5', 'score': 12.35}, {'connected_gene': 'CTAGE3P', 'score': 12.2}, {'connected_gene': 'ATP7B', 'score': 11.69}, {'connected_gene': 'VPS36', 'score': 9.95}, {'connected_gene': 'HNRNPA1L2', 'score': 9.93}, {'connected_gene': 'PIR51896', 'score': 0.29}, {'connected_gene': 'ENSG00000217576', 'score': 0.15}]