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
ENST00000607778	[[158589383, 158589427], [158591501, 158591570], [158613008, 158620376]]	[[158591535, 158591570], [158613008, 158613189]]
NM_207118	[[158589378, 158589427], [158591501, 158591570], [158613008, 158620376]]	[[158591535, 158591570], [158613008, 158613189]]

Promoter

Chrom	Start	End	Description
chr6	158589374	158589400	CAGE_peak_1_at_GTF2H5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I158066	158066640	158072829	1.27	[{'connected_gene': 'SYNJ2', 'score': 46.54}, {'connected_gene': 'GTF2H5', 'score': 8.95}, {'connected_gene': 'SERAC1', 'score': 6.01}, {'connected_gene': 'ENSG00000271040', 'score': 4.6}, {'connected_gene': 'GC06M158055', 'score': 0.39}]
chr6	GH06I158088	158088398	158089364	0.2	[{'connected_gene': 'SYNJ2', 'score': 10.98}, {'connected_gene': 'GTF2H5', 'score': 9.67}, {'connected_gene': 'GC06M158055', 'score': 0.29}, {'connected_gene': 'SERAC1', 'score': 0.18}]
chr6	GH06I158007	158007812	158012917	1.4	[{'connected_gene': 'SYNJ2', 'score': 12.9}, {'connected_gene': 'RNU6-786P', 'score': 11.31}, {'connected_gene': 'GTF2H5', 'score': 4.93}, {'connected_gene': 'RSPH3', 'score': 4.53}, {'connected_gene': 'SYNJ2-IT1', 'score': 0.44}, {'connected_gene': 'GC06M158055', 'score': 0.25}]
chr6	GH06I158016	158016543	158022303	1.27	[{'connected_gene': 'SYNJ2', 'score': 20.77}, {'connected_gene': 'RNU6-786P', 'score': 11.06}, {'connected_gene': 'GTF2H5', 'score': 5.36}, {'connected_gene': 'SYNJ2-IT1', 'score': 0.37}, {'connected_gene': 'GC06M158055', 'score': 0.28}]
chr6	GH06I158641	158641751	158647458	2.29	[{'connected_gene': 'DYNLT1', 'score': 560.84}, {'connected_gene': 'SYTL3', 'score': 559.83}, {'connected_gene': 'TMEM181', 'score': 7.59}, {'connected_gene': 'GTF2H5', 'score': 4.24}, {'connected_gene': 'PIR53252', 'score': 0.39}]
chr6	GH06I158173	158173776	158175472	0.84	[{'connected_gene': 'GTF2H5', 'score': 12.01}, {'connected_gene': 'SYNJ2', 'score': 6.72}, {'connected_gene': 'GC06M158207', 'score': 0.29}]
chr6	GH06I158167	158167189	158169225	2.05	[{'connected_gene': 'GTF2H5', 'score': 579.43}, {'connected_gene': 'SERAC1', 'score': 562.87}, {'connected_gene': 'SYNJ2', 'score': 8.88}, {'connected_gene': 'GC06M158055', 'score': 0.14}]
chr6	GH06I158169	158169856	158172263	1.07	[{'connected_gene': 'GTF2H5', 'score': 568.08}, {'connected_gene': 'SERAC1', 'score': 9.96}, {'connected_gene': 'SYNJ2', 'score': 8.45}, {'connected_gene': 'GC06M158207', 'score': 0.28}]
chr6	GH06I158200	158200648	158201436	0.43	[{'connected_gene': 'GTF2H5', 'score': 19.49}, {'connected_gene': 'SERAC1', 'score': 12.69}, {'connected_gene': 'ENSG00000238019', 'score': 10.45}, {'connected_gene': 'DYNLT1', 'score': 9.61}, {'connected_gene': 'SYTL3', 'score': 9.61}, {'connected_gene': 'SYNJ2', 'score': 8.47}, {'connected_gene': 'GC06M158207', 'score': 0.44}]
chr6	GH06I158211	158211201	158212200	0.64	[{'connected_gene': 'GTF2H5', 'score': 11.22}, {'connected_gene': 'DYNLT1', 'score': 10.85}, {'connected_gene': 'SYTL3', 'score': 10.85}, {'connected_gene': 'GC06M158207', 'score': 0.77}, {'connected_gene': 'TULP4', 'score': 0.34}]
chr6	GH06I158185	158185547	158186858	0.38	[{'connected_gene': 'GTF2H5', 'score': 17.36}, {'connected_gene': 'DYNLT1', 'score': 10.18}, {'connected_gene': 'SYTL3', 'score': 10.18}, {'connected_gene': 'RNU6-786P', 'score': 9.28}, {'connected_gene': 'SYNJ2', 'score': 6.24}, {'connected_gene': 'GC06M158207', 'score': 0.34}]
chr6	GH06I158225	158225929	158228133	0.46	[{'connected_gene': 'ENSG00000238019', 'score': 11.19}, {'connected_gene': 'DYNLT1', 'score': 10.36}, {'connected_gene': 'SYTL3', 'score': 10.36}, {'connected_gene': 'SERAC1', 'score': 9.2}, {'connected_gene': 'GTF2H5', 'score': 9.08}, {'connected_gene': 'SYNJ2', 'score': 9.01}, {'connected_gene': 'TULP4', 'score': 5.36}, {'connected_gene': 'GC06M158207', 'score': 0.37}]
chr6	GH06I158220	158220969	158221201	1.07	[{'connected_gene': 'ENSG00000238019', 'score': 10.83}, {'connected_gene': 'DYNLT1', 'score': 10.7}, {'connected_gene': 'SYTL3', 'score': 10.7}, {'connected_gene': 'GTF2H5', 'score': 6.41}, {'connected_gene': 'GC06M158207', 'score': 0.39}, {'connected_gene': 'TULP4', 'score': 0.39}]
chr6	GH06I158218	158218731	158220136	1.12	[{'connected_gene': 'ENSG00000238019', 'score': 10.83}, {'connected_gene': 'DYNLT1', 'score': 10.7}, {'connected_gene': 'SYTL3', 'score': 10.7}, {'connected_gene': 'GTF2H5', 'score': 6.42}, {'connected_gene': 'SNX9', 'score': 6.29}, {'connected_gene': 'GC06M158207', 'score': 0.39}, {'connected_gene': 'TULP4', 'score': 0.39}]
chr6	GH06I158206	158206719	158208772	0.94	[{'connected_gene': 'GC06M158207', 'score': 550.77}, {'connected_gene': 'DYNLT1', 'score': 19.24}, {'connected_gene': 'SNX9', 'score': 11.49}, {'connected_gene': 'TATDN2P2', 'score': 10.2}, {'connected_gene': 'ENSG00000238019', 'score': 10.19}, {'connected_gene': 'GTF2H5', 'score': 7.6}]
chr6	GH06I158195	158194989	158195138	0.2	[{'connected_gene': 'GC06M158207', 'score': 0.39}, {'connected_gene': 'GTF2H5', 'score': 0.31}]
chr6	GH06I158194	158194489	158194778	0.2	[{'connected_gene': 'GC06M158207', 'score': 0.39}, {'connected_gene': 'GTF2H5', 'score': 0.31}]
chr6	GH06I158205	158205389	158205538	0.77	[{'connected_gene': 'ENSG00000238019', 'score': 10.19}, {'connected_gene': 'GC06M158207', 'score': 0.77}, {'connected_gene': 'GTF2H5', 'score': 0.28}]
chr6	GH06I158191	158191149	158191298	0.2	[{'connected_gene': 'GC06M158207', 'score': 0.37}, {'connected_gene': 'GTF2H5', 'score': 0.34}]