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
ENST00000539325	[[63993412, 63993769], [63994106, 63994495]]	[[63994124, 63994495]]
ENST00000543358	[[63993739, 63993769], [63994106, 63994604], [63996949, 63997043], [63997654, 63997691]]	[[63994124, 63994604], [63996949, 63996967]]
ENST00000422364	[[63993746, 63995386], [63996043, 63996458]]	None
ENST00000535000	[[63993761, 63994604], [63996949, 63997043], [63997321, 63997455]]	[[63994124, 63994604], [63996949, 63996967]]
ENST00000441250	[[63993761, 63993899], [63994106, 63994604], [63996718, 63996816], [63996949, 63997043], [63997321, 63997479]]	[[63994124, 63994604], [63996718, 63996816], [63996949, 63997043], [63997321, 63997462]]
ENST00000279206	[[63993761, 63993899], [63994106, 63994604], [63995039, 63995138], [63996718, 63996816], [63996949, 63997043], [63997321, 63997488]]	[[63994124, 63994604], [63995039, 63995138], [63996718, 63996816], [63996949, 63997043], [63997321, 63997462]]
ENST00000537707	[[63993771, 63993899], [63994106, 63994964]]	None
ENST00000428347	[[63994080, 63994604], [63994872, 63994965], [63995039, 63995138], [63996718, 63996816], [63996949, 63997011]]	[[63994124, 63994604], [63994872, 63994965], [63995039, 63995138], [63996718, 63996816], [63996949, 63997011]]
ENST00000537094	[[63996602, 63996816], [63996949, 63997043], [63997321, 63997488]]	None
ENST00000543501	[[63996734, 63997043], [63997321, 63997487]]	None
ENST00000545184	[[63996773, 63996816], [63996949, 63997487]]	None
ENST00000534929	[[63997013, 63997043], [63997321, 63997542], [63997654, 63997791], [63997903, 63998158]]	[[63997013, 63997043], [63997321, 63997462]]
NM_001271831	[[63993729, 63993769], [63994106, 63994604], [63996718, 63996816], [63996949, 63997043], [63997321, 63997488]]	[[63994124, 63994604], [63996718, 63996816], [63996949, 63997043], [63997321, 63997462]]
NM_001128612	[[63993729, 63993769], [63994106, 63994604], [63995039, 63995138], [63996718, 63996816], [63996949, 63997043], [63997321, 63997488]]	[[63994124, 63994604], [63995039, 63995138], [63996718, 63996816], [63996949, 63997043], [63997321, 63997462]]
NM_001128613	[[63993745, 63993899], [63994106, 63994604], [63996718, 63996816], [63996949, 63997043], [63997321, 63997488]]	[[63994124, 63994604], [63996718, 63996816], [63996949, 63997043], [63997321, 63997462]]
NM_032344	[[63993745, 63993899], [63994106, 63994604], [63995039, 63995138], [63996718, 63996816], [63996949, 63997043], [63997321, 63997488]]	[[63994124, 63994604], [63995039, 63995138], [63996718, 63996816], [63996949, 63997043], [63997321, 63997462]]

Promoter

Chrom	Start	End	Description
chr11	63993718	63993729	CAGE_peak_4_at_NUDT22_5end
chr11	63993738	63993778	CAGE_peak_1_at_NUDT22_5end
chr11	63993779	63993796	CAGE_peak_2_at_NUDT22_5end
chr11	63994369	63994423	CAGE_peak_3_at_NUDT22_5end
chr11	63994425	63994440	CAGE_peak_5_at_NUDT22_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I064354	64354689	64361259	2.72	[{'connected_gene': 'RPS6KA4', 'score': 559.68}, {'connected_gene': 'LOC102723878', 'score': 20.26}, {'connected_gene': 'PLCB3', 'score': 13.55}, {'connected_gene': 'ENSG00000231680', 'score': 6.78}, {'connected_gene': 'TRPT1', 'score': 4.82}, {'connected_gene': 'MARK2', 'score': 4.13}, {'connected_gene': 'PPP1R14B', 'score': 3.69}, {'connected_gene': 'ESRRA', 'score': 3.36}, {'connected_gene': 'PRDX5', 'score': 2.81}, {'connected_gene': 'TRMT112', 'score': 2.76}, {'connected_gene': 'BAD', 'score': 2.56}, {'connected_gene': 'NUDT22', 'score': 2.25}, {'connected_gene': 'CDC42BPG', 'score': 1.9}, {'connected_gene': 'FKBP2', 'score': 1.29}, {'connected_gene': 'GC11M064349', 'score': 0.77}, {'connected_gene': 'CCDC88B', 'score': 0.37}]
chr11	GH11I063448	63448385	63449411	0.38	[{'connected_gene': 'NUDT22', 'score': 4.83}, {'connected_gene': 'LBHD1', 'score': 4.05}, {'connected_gene': 'LOC100533643', 'score': 0.34}, {'connected_gene': 'SLC22A9', 'score': 0.18}]
chr11	GH11I064223	64223380	64223847	0.46	[{'connected_gene': 'TRPT1', 'score': 23.33}, {'connected_gene': 'ENSG00000256116', 'score': 5.78}, {'connected_gene': 'NUDT22', 'score': 0.77}, {'connected_gene': 'FERMT3', 'score': 0.37}]
chr11	GH11I064224	64224312	64227866	2.01	[{'connected_gene': 'TRPT1', 'score': 584.16}, {'connected_gene': 'NUDT22', 'score': 550.77}, {'connected_gene': 'SF1', 'score': 29.75}, {'connected_gene': 'TRMT112', 'score': 19.52}, {'connected_gene': 'ZFPL1', 'score': 13.24}, {'connected_gene': 'SYVN1', 'score': 12.91}, {'connected_gene': 'PLCB3', 'score': 11.39}, {'connected_gene': 'FAU', 'score': 11.38}, {'connected_gene': 'MEN1', 'score': 11.38}, {'connected_gene': 'ATG2A', 'score': 10.86}, {'connected_gene': 'NAALADL1', 'score': 9.93}, {'connected_gene': 'ENSG00000256116', 'score': 5.82}]
chr11	GH11I064204	64204109	64205258	0.93	[{'connected_gene': 'FERMT3', 'score': 550.77}, {'connected_gene': 'TRPT1', 'score': 27.84}, {'connected_gene': 'NUDT22', 'score': 12.24}, {'connected_gene': 'DNAJC4', 'score': 12.21}, {'connected_gene': 'ENSG00000257086', 'score': 11.67}, {'connected_gene': 'PLCB3', 'score': 11.66}, {'connected_gene': 'MACROD1', 'score': 11.44}, {'connected_gene': 'GPR137', 'score': 11.34}, {'connected_gene': 'BAD', 'score': 11.31}, {'connected_gene': 'GC11M064182', 'score': 0.37}, {'connected_gene': 'STIP1', 'score': 0.37}]
chr11	GH11I064205	64205396	64209794	2.19	[{'connected_gene': 'FERMT3', 'score': 550.77}, {'connected_gene': 'TRPT1', 'score': 25.79}, {'connected_gene': 'ZFPL1', 'score': 25.16}, {'connected_gene': 'PLCB3', 'score': 22.46}, {'connected_gene': 'SF1', 'score': 21.61}, {'connected_gene': 'TRMT112', 'score': 12.31}, {'connected_gene': 'ENSG00000257086', 'score': 11.65}, {'connected_gene': 'GPR137', 'score': 11.57}, {'connected_gene': 'BAD', 'score': 11.55}, {'connected_gene': 'KCNK4-TEX40', 'score': 11.54}, {'connected_gene': 'KCNK4', 'score': 11.54}, {'connected_gene': 'ENSG00000207024', 'score': 11.53}, {'connected_gene': 'CATSPERZ', 'score': 11.52}, {'connected_gene': 'ESRRA', 'score': 11.52}, {'connected_gene': 'FAU', 'score': 10.3}, {'connected_gene': 'SYVN1', 'score': 9.66}, {'connected_gene': 'CCDC88B', 'score': 8.56}, {'connected_gene': 'ENSG00000256116', 'score': 5.75}, {'connected_gene': 'NUDT22', 'score': 0.37}]
chr11	GH11I064215	64215169	64215258	0.49	[{'connected_gene': 'FKBP2', 'score': 12.56}, {'connected_gene': 'LOC105369340', 'score': 12.55}, {'connected_gene': 'ENSG00000257086', 'score': 12.55}, {'connected_gene': 'PPP1R14B', 'score': 12.55}, {'connected_gene': 'PLCB3', 'score': 12.53}, {'connected_gene': 'GPR137', 'score': 11.59}, {'connected_gene': 'BAD', 'score': 11.56}, {'connected_gene': 'MACROD1', 'score': 10.78}, {'connected_gene': 'FERMT3', 'score': 0.44}, {'connected_gene': 'NUDT22', 'score': 0.39}]
chr11	GH11I064229	64229185	64231401	1.97	[{'connected_gene': 'GC11P064229', 'score': 550.77}, {'connected_gene': 'DNAJC4', 'score': 550.77}, {'connected_gene': 'SF1', 'score': 24.98}, {'connected_gene': 'ZFPL1', 'score': 14.95}, {'connected_gene': 'PLCB3', 'score': 13.68}, {'connected_gene': 'ATG2A', 'score': 12.15}, {'connected_gene': 'NAALADL1', 'score': 11.57}, {'connected_gene': 'SYVN1', 'score': 10.69}, {'connected_gene': 'VPS51', 'score': 9.77}, {'connected_gene': 'ENSG00000256116', 'score': 6.16}, {'connected_gene': 'NUDT22', 'score': 0.77}, {'connected_gene': 'PIR49361', 'score': 0.77}]