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
ENST00000289388	[[219221578, 219221632], [219221817, 219221910], [219222256, 219222457], [219222759, 219222815], [219225295, 219225382], [219227457, 219227625], [219229350, 219229475], [219231746, 219231823], [219232152, 219232241], [219232444, 219232817]]	[[219221607, 219221632], [219221817, 219221910], [219222256, 219222457], [219222759, 219222815], [219225295, 219225382], [219227457, 219227625], [219229350, 219229475], [219231746, 219231823], [219232152, 219232241], [219232444, 219232687]]
ENST00000480532	[[219221585, 219221632], [219221817, 219222513]]	None
ENST00000495773	[[219222207, 219222815], [219225295, 219225353]]	None
ENST00000481940	[[219222425, 219222457], [219222708, 219222815], [219225295, 219225382], [219231746, 219231823], [219232152, 219232241], [219232444, 219232822]]	None
ENST00000494447	[[219230230, 219232241], [219232444, 219232816]]	None
NM_198559	[[219221578, 219221632], [219221817, 219221910], [219222256, 219222457], [219222759, 219222815], [219225295, 219225382], [219227457, 219227625], [219229350, 219229475], [219231746, 219231823], [219232152, 219232241], [219232444, 219232817]]	[[219221607, 219221632], [219221817, 219221910], [219222256, 219222457], [219222759, 219222815], [219225295, 219225382], [219227457, 219227625], [219229350, 219229475], [219231746, 219231823], [219232152, 219232241], [219232444, 219232687]]
NM_001320865	[[219221578, 219221632], [219221784, 219221910], [219222256, 219222457], [219222759, 219222815], [219225295, 219225382], [219227457, 219227625], [219229350, 219229475], [219231746, 219231823], [219232152, 219232241], [219232444, 219232817]]	[[219221607, 219221632], [219221784, 219221910], [219222256, 219222457], [219222759, 219222815], [219225295, 219225382], [219227457, 219227625], [219229350, 219229475], [219231746, 219231823], [219232152, 219232241], [219232444, 219232687]]

Promoter

Chrom	Start	End	Description
chr2	219221573	219221610	CAGE_peak_1_at_C2orf62_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I217365	217365855	217369281	0.87	[{'connected_gene': 'DIRC3', 'score': 6.97}, {'connected_gene': 'CATIP', 'score': 4.08}, {'connected_gene': 'GC02P217334', 'score': 0.29}, {'connected_gene': 'GC02M217383', 'score': 0.26}]
chr2	GH02I218381	218381407	218385000	1.34	[{'connected_gene': 'SLC11A1', 'score': 556.89}, {'connected_gene': 'TMBIM1', 'score': 19.06}, {'connected_gene': 'PNKD', 'score': 11.96}, {'connected_gene': 'AAMP', 'score': 11.96}, {'connected_gene': 'CATIP', 'score': 4.94}, {'connected_gene': 'CTDSP1', 'score': 0.37}]
chr2	GH02I217371	217371800	217372200	0.31	[{'connected_gene': 'CATIP', 'score': 4.44}, {'connected_gene': 'GC02P217334', 'score': 0.28}, {'connected_gene': 'GC02M217383', 'score': 0.28}, {'connected_gene': 'DIRC3', 'score': 0.05}]
chr2	GH02I218359	218359398	218364400	1.02	[{'connected_gene': 'CATIP', 'score': 13.33}, {'connected_gene': 'ENSG00000261338', 'score': 12.31}, {'connected_gene': 'PNKD', 'score': 11.1}, {'connected_gene': 'CATIP-AS2', 'score': 0.77}, {'connected_gene': 'CATIP-AS1', 'score': 0.44}, {'connected_gene': 'GC02M218358', 'score': 0.44}]
chr2	GH02I218356	218356178	218357997	1.56	[{'connected_gene': 'CATIP-AS2', 'score': 550.77}, {'connected_gene': 'GC02M218355', 'score': 550.77}, {'connected_gene': 'CATIP', 'score': 550.77}, {'connected_gene': 'ENSG00000261338', 'score': 13.25}, {'connected_gene': 'TMBIM1', 'score': 12.79}, {'connected_gene': 'PNKD', 'score': 12.74}, {'connected_gene': 'AAMP', 'score': 12.74}, {'connected_gene': 'SLC11A1', 'score': 11.52}]
chr2	GH02I218366	218366463	218373287	1.95	[{'connected_gene': 'CATIP-AS1', 'score': 550.77}, {'connected_gene': 'GC02M218358', 'score': 550.77}, {'connected_gene': 'SLC11A1', 'score': 47.46}, {'connected_gene': 'ENSG00000261338', 'score': 12.26}, {'connected_gene': 'ARPC2', 'score': 8.34}, {'connected_gene': 'CXCR2', 'score': 7.29}, {'connected_gene': 'CXCR1', 'score': 5.12}, {'connected_gene': 'CATIP', 'score': 4.75}, {'connected_gene': 'PNKD', 'score': 4.57}, {'connected_gene': 'CNOT9', 'score': 4.25}, {'connected_gene': 'TMBIM1', 'score': 2.68}, {'connected_gene': 'USP37', 'score': 1.68}, {'connected_gene': 'CYP27A1', 'score': 1.66}, {'connected_gene': 'TTLL4', 'score': 1.28}, {'connected_gene': 'GPBAR1', 'score': 1.21}]
chr2	GH02I218354	218354918	218355416	0.77	[{'connected_gene': 'GC02M218355', 'score': 550.77}, {'connected_gene': 'CATIP', 'score': 550.77}, {'connected_gene': 'RPL19P5', 'score': 550.77}, {'connected_gene': 'PNKD', 'score': 23.68}, {'connected_gene': 'TMBIM1', 'score': 12.79}, {'connected_gene': 'AAMP', 'score': 12.75}, {'connected_gene': 'SLC11A1', 'score': 11.49}, {'connected_gene': 'CFAP65', 'score': 5.25}, {'connected_gene': 'CATIP-AS2', 'score': 0.77}]