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
ENST00000406310	[[64073043, 64073208], [64074639, 64074976], [64081422, 64081539], [64081710, 64081839], [64082215, 64082383], [64082472, 64082742], [64083178, 64084210]]	[[64074651, 64074976], [64081422, 64081539], [64081710, 64081839], [64082215, 64082383], [64082472, 64082742], [64083178, 64083438]]
ENST00000000442	[[64073049, 64073208], [64074639, 64074976], [64081422, 64081539], [64081710, 64081839], [64082212, 64082383], [64082472, 64082742], [64083178, 64084210]]	[[64074651, 64074976], [64081422, 64081539], [64081710, 64081839], [64082212, 64082383], [64082472, 64082742], [64083178, 64083438]]
ENST00000539594	[[64073051, 64073208], [64081422, 64081539], [64081710, 64081839], [64082212, 64082383], [64082472, 64082645]]	[[64081526, 64081539], [64081710, 64081839], [64082212, 64082383], [64082472, 64082645]]
ENST00000405666	[[64073698, 64073920], [64074639, 64074976], [64081422, 64081539], [64081710, 64081839], [64082212, 64082383], [64082472, 64082742], [64083178, 64084215]]	[[64074651, 64074976], [64081422, 64081539], [64081710, 64081839], [64082212, 64082383], [64082472, 64082742], [64083178, 64083438]]
ENST00000468670	[[64073917, 64074318], [64074639, 64074980]]	[[64074651, 64074980]]
ENST00000467987	[[64081242, 64081539], [64081710, 64081839], [64083178, 64083362]]	None
ENST00000545035	[[64081755, 64081839], [64082472, 64082742], [64083178, 64083501]]	[[64081755, 64081839], [64082472, 64082742], [64083178, 64083417]]
NM_001282451	[[64072999, 64073208], [64074639, 64074976], [64081422, 64081539], [64081710, 64081839], [64082215, 64082383], [64082472, 64082742], [64083178, 64084215]]	[[64074651, 64074976], [64081422, 64081539], [64081710, 64081839], [64082215, 64082383], [64082472, 64082742], [64083178, 64083438]]
NM_004451	[[64072999, 64073208], [64074639, 64074976], [64081422, 64081539], [64081710, 64081839], [64082212, 64082383], [64082472, 64082742], [64083178, 64084215]]	[[64074651, 64074976], [64081422, 64081539], [64081710, 64081839], [64082212, 64082383], [64082472, 64082742], [64083178, 64083438]]
NM_001282450	[[64073698, 64073920], [64074639, 64074976], [64081422, 64081539], [64081710, 64081839], [64082212, 64082383], [64082472, 64082742], [64083178, 64084215]]	[[64074651, 64074976], [64081422, 64081539], [64081710, 64081839], [64082212, 64082383], [64082472, 64082742], [64083178, 64083438]]

Promoter

Chrom	Start	End	Description
chr11	64072981	64073005	CAGE_peak_2_at_ESRRA_5end
chr11	64073006	64073017	CAGE_peak_3_at_ESRRA_5end
chr11	64073022	64073056	CAGE_peak_1_at_ESRRA_5end
chr11	64073314	64073351	CAGE_peak_5_at_ESRRA_5end
chr11	64073848	64073856	CAGE_peak_6_at_ESRRA_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	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	GH11I064267	64267086	64274313	1.82	[{'connected_gene': 'GPR137', 'score': 550.77}, {'connected_gene': 'ZFPL1', 'score': 34.68}, {'connected_gene': 'SF1', 'score': 32.9}, {'connected_gene': 'POLA2', 'score': 32.78}, {'connected_gene': 'PLCB3', 'score': 27.53}, {'connected_gene': 'TRMT112', 'score': 23.09}, {'connected_gene': 'DNAJC4', 'score': 21.3}, {'connected_gene': 'ENSG00000257086', 'score': 20.68}, {'connected_gene': 'FAU', 'score': 20.2}, {'connected_gene': 'LOC102723878', 'score': 19.24}, {'connected_gene': 'TRPT1', 'score': 17.08}, {'connected_gene': 'NAALADL1', 'score': 15.12}, {'connected_gene': 'NRXN2', 'score': 13.07}, {'connected_gene': 'KCNK4', 'score': 12.91}, {'connected_gene': 'SPINDOC', 'score': 12.7}, {'connected_gene': 'ATL3', 'score': 12.19}, {'connected_gene': 'ESRRA', 'score': 11.38}, {'connected_gene': 'ZNHIT2', 'score': 11.22}, {'connected_gene': 'RCOR2', 'score': 11.14}, {'connected_gene': 'PRDX5', 'score': 10.91}, {'connected_gene': 'PPP2R5B', 'score': 10.6}, {'connected_gene': 'C11orf95', 'score': 10.12}, {'connected_gene': 'ENSG00000231680', 'score': 9.23}, {'connected_gene': 'CCDC88B', 'score': 4.54}, {'connected_gene': 'GC11P064262', 'score': 0.44}, {'connected_gene': 'BAD', 'score': 0.39}]
chr11	GH11I064313	64313142	64314528	0.6	[{'connected_gene': 'PLCB3', 'score': 16.86}, {'connected_gene': 'TRMT112', 'score': 0.77}, {'connected_gene': 'ESRRA', 'score': 0.44}]
chr11	GH11I064304	64303369	64303518	0.31	[{'connected_gene': 'PLCB3', 'score': 16.87}, {'connected_gene': 'ENSG00000231680', 'score': 9.13}, {'connected_gene': 'ESRRA', 'score': 0.77}, {'connected_gene': 'PIR39886', 'score': 0.77}, {'connected_gene': 'CATSPERZ', 'score': 0.77}, {'connected_gene': 'KCNK4-TEX40', 'score': 0.39}]
chr11	GH11I064311	64310825	64311727	0.38	[{'connected_gene': 'TRMT112', 'score': 21.09}, {'connected_gene': 'PLCB3', 'score': 16.86}, {'connected_gene': 'ENSG00000231680', 'score': 9.14}, {'connected_gene': 'ESRRA', 'score': 0.44}]
chr11	GH11I064316	64316107	64320161	2.3	[{'connected_gene': 'TRMT112', 'score': 571.32}, {'connected_gene': 'PRDX5', 'score': 550.77}, {'connected_gene': 'PIR36303', 'score': 550.77}, {'connected_gene': 'SF1', 'score': 39.1}, {'connected_gene': 'POLA2', 'score': 35.65}, {'connected_gene': 'ZFPL1', 'score': 25.69}, {'connected_gene': 'ENSG00000257086', 'score': 23.16}, {'connected_gene': 'PLCB3', 'score': 11.79}, {'connected_gene': 'ZNHIT2', 'score': 11.22}, {'connected_gene': 'DNAJC4', 'score': 9.81}, {'connected_gene': 'ATG2A', 'score': 9.69}, {'connected_gene': 'ENSG00000231680', 'score': 9.11}, {'connected_gene': 'ESRRA', 'score': 0.39}]
chr11	GH11I064314	64314569	64314718	0.56	[{'connected_gene': 'TRMT112', 'score': 0.77}, {'connected_gene': 'ESRRA', 'score': 0.44}]
chr11	GH11I064303	64303787	64308263	2.1	[{'connected_gene': 'ESRRA', 'score': 550.77}, {'connected_gene': 'SF1', 'score': 20.25}, {'connected_gene': 'POLA2', 'score': 14.53}, {'connected_gene': 'ZFPL1', 'score': 13.24}, {'connected_gene': 'C11orf95', 'score': 13.21}, {'connected_gene': 'SYVN1', 'score': 12.92}, {'connected_gene': 'FAU', 'score': 11.38}, {'connected_gene': 'PLCB3', 'score': 11.31}, {'connected_gene': 'ATG2A', 'score': 10.86}, {'connected_gene': 'NAALADL1', 'score': 9.93}, {'connected_gene': 'CATSPERZ', 'score': 0.44}, {'connected_gene': 'KCNK4-TEX40', 'score': 0.39}, {'connected_gene': 'TRMT112', 'score': 0.39}]
chr11	GH11I064312	64310109	64310298	0.68	[{'connected_gene': 'ESRRA', 'score': 0.77}, {'connected_gene': 'TRMT112', 'score': 0.44}]
chr11	GH11I064310	64310705	64310778	0.2	[{'connected_gene': 'ESRRA', 'score': 0.44}, {'connected_gene': 'TRMT112', 'score': 0.44}]
chr11	GH11I064274	64274879	64277731	0.82	[{'connected_gene': 'LOC102723878', 'score': 22.76}, {'connected_gene': 'DNAJC4', 'score': 11.65}, {'connected_gene': 'ESRRA', 'score': 11.4}, {'connected_gene': 'PRDX5', 'score': 10.92}, {'connected_gene': 'TRMT112', 'score': 10.92}, {'connected_gene': 'ENSG00000231680', 'score': 9.18}, {'connected_gene': 'BAD', 'score': 0.44}, {'connected_gene': 'GPR137', 'score': 0.44}]
chr11	GH11I064347	64347430	64349332	0.76	[{'connected_gene': 'LOC102723878', 'score': 22.34}, {'connected_gene': 'MIR1237', 'score': 11.87}, {'connected_gene': 'PRDX5', 'score': 11.82}, {'connected_gene': 'TRMT112', 'score': 11.82}, {'connected_gene': 'ESRRA', 'score': 11.79}, {'connected_gene': 'CATSPERZ', 'score': 11.5}, {'connected_gene': 'ENSG00000207024', 'score': 11.48}, {'connected_gene': 'KCNK4-TEX40', 'score': 11.47}, {'connected_gene': 'KCNK4', 'score': 11.47}, {'connected_gene': 'BAD', 'score': 11.46}, {'connected_gene': 'GPR137', 'score': 11.43}, {'connected_gene': 'GC11M064349', 'score': 0.77}, {'connected_gene': 'CCDC88B', 'score': 0.44}, {'connected_gene': 'MIR7155', 'score': 0.44}]
chr11	GH11I064300	64300309	64301818	1.42	[{'connected_gene': 'PIR39886', 'score': 550.77}, {'connected_gene': 'CATSPERZ', 'score': 550.77}, {'connected_gene': 'PLCB3', 'score': 16.88}, {'connected_gene': 'ESRRA', 'score': 0.77}, {'connected_gene': 'KCNK4-TEX40', 'score': 0.44}]