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
ENST00000601682	[[51645555, 51646059], [51647850, 51647941], [51648145, 51648177]]	[[51645626, 51646059], [51647850, 51647941], [51648145, 51648177]]
ENST00000317643	[[51645557, 51646059], [51647662, 51647941], [51648168, 51648216], [51649111, 51649378], [51650010, 51650107], [51650477, 51650574], [51656319, 51656783]]	[[51645626, 51646059], [51647662, 51647941], [51648168, 51648216], [51649111, 51649378], [51650010, 51650107], [51650477, 51650574], [51656319, 51656502]]
ENST00000305628	[[51645563, 51646059], [51648168, 51648216], [51649111, 51649378], [51650010, 51650107], [51650477, 51650574], [51656319, 51656783]]	[[51645626, 51646059], [51648168, 51648216], [51649111, 51649378], [51650010, 51650107], [51650477, 51650574], [51656319, 51656502]]
ENST00000600577	[[51645626, 51646059], [51656319, 51656502]]	[[51645626, 51646059], [51656319, 51656324]]
ENST00000536156	[[51645626, 51646059], [51650477, 51650574], [51656319, 51656502]]	[[51645626, 51646059], [51650477, 51650482]]
ENST00000599250	[[51650213, 51650574], [51656319, 51656485]]	None
NM_001277201	[[51645557, 51646059], [51656319, 51656783]]	[[51645626, 51646059], [51656319, 51656324]]
NR_102350	[[51645557, 51646059], [51650477, 51650574], [51656319, 51656783]]	None
NM_016543	[[51645557, 51646059], [51648168, 51648216], [51649111, 51649378], [51650010, 51650107], [51650477, 51650574], [51656319, 51656783]]	[[51645626, 51646059], [51648168, 51648216], [51649111, 51649378], [51650010, 51650107], [51650477, 51650574], [51656319, 51656502]]
NM_014385	[[51645557, 51646059], [51647662, 51647941], [51648168, 51648216], [51649111, 51649378], [51650010, 51650107], [51650477, 51650574], [51656319, 51656783]]	[[51645626, 51646059], [51647662, 51647941], [51648168, 51648216], [51649111, 51649378], [51650010, 51650107], [51650477, 51650574], [51656319, 51656502]]

Promoter

Chrom	Start	End	Description
chr19	51645710	51645723	CAGE_peak_2_at_SIGLEC7_5end
chr19	51645742	51645787	CAGE_peak_1_at_SIGLEC7_5end
chr19	51645861	51645870	CAGE_peak_4_at_SIGLEC7_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I051545	51545788	51553758	1.74	[{'connected_gene': 'SIGLEC6', 'score': 31.83}, {'connected_gene': 'ZNF175', 'score': 31.47}, {'connected_gene': 'ZNF841', 'score': 18.48}, {'connected_gene': 'ZNF616', 'score': 17.04}, {'connected_gene': 'ZNF836', 'score': 16.95}, {'connected_gene': 'ZNF808', 'score': 16.11}, {'connected_gene': 'SIGLEC14', 'score': 16.06}, {'connected_gene': 'SIGLEC8', 'score': 16.03}, {'connected_gene': 'ZNF350', 'score': 12.25}, {'connected_gene': 'CEACAM18', 'score': 11.79}, {'connected_gene': 'SIGLEC12', 'score': 11.44}, {'connected_gene': 'SIGLEC5', 'score': 11.21}, {'connected_gene': 'RPL7P51', 'score': 11.21}, {'connected_gene': 'CTU1', 'score': 10.89}, {'connected_gene': 'ZNF766', 'score': 10.66}, {'connected_gene': 'MIR125A', 'score': 10.49}, {'connected_gene': 'MIR99B', 'score': 10.49}, {'connected_gene': 'SPACA6', 'score': 10.49}, {'connected_gene': 'MIRLET7E', 'score': 10.49}, {'connected_gene': 'ZNF480', 'score': 10.29}, {'connected_gene': 'ZNF613', 'score': 10.13}, {'connected_gene': 'ZNF577', 'score': 9.91}, {'connected_gene': 'ENSG00000268316', 'score': 9.7}, {'connected_gene': 'CD33', 'score': 1.95}, {'connected_gene': 'SIGLEC7', 'score': 1.76}, {'connected_gene': 'ZNF614', 'score': 1.72}, {'connected_gene': 'ZNF615', 'score': 1.45}, {'connected_gene': 'ZNF649', 'score': 1.36}, {'connected_gene': 'SIGLEC28P', 'score': 0.77}, {'connected_gene': 'SIGLEC29P', 'score': 0.37}]
chr19	GH19I051570	51570445	51574009	2.46	[{'connected_gene': 'ZNF175', 'score': 573.37}, {'connected_gene': 'ZNF766', 'score': 15.11}, {'connected_gene': 'ZNF701', 'score': 14.06}, {'connected_gene': 'ZNF350', 'score': 12.49}, {'connected_gene': 'ZNF616', 'score': 11.92}, {'connected_gene': 'ZNF808', 'score': 11.86}, {'connected_gene': 'ZNF841', 'score': 10.95}, {'connected_gene': 'SIGLEC5', 'score': 10.9}, {'connected_gene': 'SIGLEC14', 'score': 10.9}, {'connected_gene': 'RPL7P51', 'score': 10.89}, {'connected_gene': 'ZNF836', 'score': 10.68}, {'connected_gene': 'CTU1', 'score': 10.67}, {'connected_gene': 'CEACAM18', 'score': 10.35}, {'connected_gene': 'ZNF577', 'score': 10.16}, {'connected_gene': 'SIGLEC8', 'score': 9.98}, {'connected_gene': 'ZNF578', 'score': 9.98}, {'connected_gene': 'ENSG00000268316', 'score': 9.77}, {'connected_gene': 'FPR3', 'score': 9.11}, {'connected_gene': 'ZNF615', 'score': 6.11}, {'connected_gene': 'SIGLEC6', 'score': 5.55}, {'connected_gene': 'ZNF649', 'score': 3.42}, {'connected_gene': 'ZNF614', 'score': 3.16}, {'connected_gene': 'SIGLEC7', 'score': 2.77}, {'connected_gene': 'ZNF613', 'score': 2.55}, {'connected_gene': 'PIR38271', 'score': 0.37}]
chr19	GH19I051131	51131613	51133000	1.53	[{'connected_gene': 'SIGLEC9', 'score': 18.2}, {'connected_gene': 'CTU1', 'score': 11.59}, {'connected_gene': 'SIGLEC10', 'score': 5.88}, {'connected_gene': 'C19orf81', 'score': 5.52}, {'connected_gene': 'SIGLEC17P', 'score': 5.36}, {'connected_gene': 'SIGLEC7', 'score': 2.71}, {'connected_gene': 'CD33', 'score': 1.71}, {'connected_gene': 'SIGLEC12', 'score': 1.38}, {'connected_gene': 'ENSG00000267990', 'score': 0.44}]
chr19	GH19I051121	51121002	51131268	2.09	[{'connected_gene': 'SIGLEC9', 'score': 565.24}, {'connected_gene': 'ZNF613', 'score': 17.43}, {'connected_gene': 'ZNF841', 'score': 11.46}, {'connected_gene': 'ZNF577', 'score': 10.89}, {'connected_gene': 'POLD1', 'score': 10.34}, {'connected_gene': 'SIGLEC18P', 'score': 6.91}, {'connected_gene': 'KLK11', 'score': 5.28}, {'connected_gene': 'CTU1', 'score': 5.17}, {'connected_gene': 'C19orf81', 'score': 5.08}, {'connected_gene': 'SIGLEC10', 'score': 4.84}, {'connected_gene': 'CD33', 'score': 2.19}, {'connected_gene': 'SIGLEC12', 'score': 2.0}, {'connected_gene': 'SIGLEC7', 'score': 1.61}, {'connected_gene': 'ENSG00000267990', 'score': 0.39}]
chr19	GH19I051136	51136001	51145400	1.96	[{'connected_gene': 'SIGLEC7', 'score': 558.62}, {'connected_gene': 'SIGLEC17P', 'score': 11.99}, {'connected_gene': 'CTU1', 'score': 11.6}, {'connected_gene': 'POLD1', 'score': 11.58}, {'connected_gene': 'SIGLEC9', 'score': 11.51}, {'connected_gene': 'ZNF616', 'score': 11.13}, {'connected_gene': 'KLK14', 'score': 10.62}, {'connected_gene': 'KLK10', 'score': 10.12}, {'connected_gene': 'SIGLEC10', 'score': 3.02}, {'connected_gene': 'CD33', 'score': 2.23}, {'connected_gene': 'SIGLEC12', 'score': 1.11}, {'connected_gene': 'ENSG00000267990', 'score': 0.77}, {'connected_gene': 'ENSG00000267895', 'score': 0.77}]
chr19	GH19I051460	51460401	51462400	1.34	[{'connected_gene': 'SIGLEC25P', 'score': 550.77}, {'connected_gene': 'SIGLEC5', 'score': 10.28}, {'connected_gene': 'SIGLEC14', 'score': 10.28}, {'connected_gene': 'RPL7P51', 'score': 10.28}, {'connected_gene': 'SIGLEC6', 'score': 10.05}, {'connected_gene': 'SIGLEC8', 'score': 7.87}, {'connected_gene': 'SIGLEC7', 'score': 7.63}, {'connected_gene': 'ZNF175', 'score': 4.58}, {'connected_gene': 'ZNF613', 'score': 2.95}, {'connected_gene': 'CD33', 'score': 2.9}, {'connected_gene': 'SIGLEC10', 'score': 2.9}, {'connected_gene': 'ZNF649', 'score': 2.85}, {'connected_gene': 'SIGLEC9', 'score': 1.29}]
chr19	GH19I051565	51565600	51565866	0.87	[{'connected_gene': 'SIGLEC29P', 'score': 550.77}, {'connected_gene': 'SIGLEC6', 'score': 17.45}, {'connected_gene': 'ZNF175', 'score': 11.0}, {'connected_gene': 'CD33', 'score': 2.4}, {'connected_gene': 'SIGLEC8', 'score': 2.34}, {'connected_gene': 'SIGLEC12', 'score': 2.02}, {'connected_gene': 'SIGLEC7', 'score': 1.41}]
chr19	GH19I051466	51466266	51468988	1.46	[{'connected_gene': 'SIGLEC26P', 'score': 550.77}, {'connected_gene': 'SIGLEC6', 'score': 25.17}, {'connected_gene': 'ZNF175', 'score': 10.9}, {'connected_gene': 'SIGLEC5', 'score': 10.84}, {'connected_gene': 'SIGLEC14', 'score': 10.84}, {'connected_gene': 'RPL7P51', 'score': 10.84}, {'connected_gene': 'FPR3', 'score': 9.41}, {'connected_gene': 'SIGLEC12', 'score': 7.13}, {'connected_gene': 'SIGLEC8', 'score': 7.12}, {'connected_gene': 'CD33', 'score': 3.78}, {'connected_gene': 'SIGLEC7', 'score': 2.99}, {'connected_gene': 'ZNF649', 'score': 2.87}, {'connected_gene': 'ZNF613', 'score': 2.26}, {'connected_gene': 'SIGLEC25P', 'score': 0.44}]
chr19	GH19I051122	51119669	51119815	0.49	[{'connected_gene': 'SIGLEC18P', 'score': 550.77}, {'connected_gene': 'SIGLEC9', 'score': 6.5}, {'connected_gene': 'CTU1', 'score': 4.86}, {'connected_gene': 'SIGLEC7', 'score': 2.64}, {'connected_gene': 'SIGLEC10', 'score': 1.68}, {'connected_gene': 'CD33', 'score': 1.57}, {'connected_gene': 'SIGLEC8', 'score': 1.15}]
chr19	GH19I051119	51119280	51119396	0.42	[{'connected_gene': 'SIGLEC18P', 'score': 550.77}, {'connected_gene': 'SIGLEC9', 'score': 5.1}, {'connected_gene': 'SIGLEC7', 'score': 2.51}, {'connected_gene': 'CTU1', 'score': 0.39}]
chr19	GH19I051440	51440799	51442661	1.37	[{'connected_gene': 'ENSG00000269181', 'score': 550.77}, {'connected_gene': 'SIGLEC6', 'score': 3.49}, {'connected_gene': 'SIGLEC7', 'score': 2.7}, {'connected_gene': 'ZNF649', 'score': 2.51}, {'connected_gene': 'ZNF175', 'score': 2.31}, {'connected_gene': 'SIGLEC9', 'score': 1.95}, {'connected_gene': 'SIGLEC10', 'score': 1.65}, {'connected_gene': 'ENSG00000268711', 'score': 0.37}]
chr19	GH19I051148	51148201	51149600	0.51	[{'connected_gene': 'ENSG00000269681', 'score': 0.44}, {'connected_gene': 'SIGLEC7', 'score': 0.44}, {'connected_gene': 'ENSG00000267895', 'score': 0.44}]
chr19	GH19I051150	51150682	51151404	0.2	[{'connected_gene': 'ENSG00000269681', 'score': 0.77}, {'connected_gene': 'SIGLEC7', 'score': 0.44}, {'connected_gene': 'ENSG00000267895', 'score': 0.44}]