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
ENST00000299320	[[4784272, 4784699], [4786464, 4786644], [4787800, 4787947], [4790153, 4790660], [4793043, 4793161], [4794870, 4795012], [4796375, 4796513], [4796927, 4797026], [4797343, 4797635], [4798725, 4799397]]	[[4786515, 4786644], [4787800, 4787947], [4790153, 4790660], [4793043, 4793161], [4794870, 4795012], [4796375, 4796513], [4796927, 4797026], [4797343, 4797626]]
ENST00000586724	[[4784344, 4784373], [4786464, 4786644], [4787800, 4787947], [4790153, 4790346]]	[[4786515, 4786644], [4787800, 4787947], [4790153, 4790346]]
ENST00000590191	[[4784480, 4784699], [4786464, 4786644], [4787800, 4787989], [4790153, 4790660], [4793043, 4793161], [4794870, 4795012], [4796375, 4796522], [4796927, 4797026], [4797343, 4797635], [4798725, 4799396]]	[[4786515, 4786644], [4787800, 4787989], [4790153, 4790660], [4793043, 4793161], [4794870, 4795012], [4796375, 4796522], [4796927, 4797026], [4797343, 4797626]]
ENST00000586256	[[4784502, 4784699], [4786464, 4786644], [4787800, 4787947], [4790153, 4790660], [4793043, 4793161], [4794870, 4795012], [4796375, 4797635], [4798243, 4799397]]	None
NM_139170	[[4784288, 4784699], [4786464, 4786644], [4787800, 4787947], [4790153, 4790660], [4793043, 4793161], [4794870, 4795012], [4796375, 4796513], [4796927, 4797026], [4797343, 4797635], [4798725, 4799397]]	[[4786515, 4786644], [4787800, 4787947], [4790153, 4790660], [4793043, 4793161], [4794870, 4795012], [4796375, 4796513], [4796927, 4797026], [4797343, 4797626]]

Promoter

Chrom	Start	End	Description
chr16	4784315	4784326	CAGE_peak_3_at_C16orf71_5end
chr16	4784458	4784497	CAGE_peak_2_at_C16orf71_5end
chr16	4784520	4784548	CAGE_peak_1_at_C16orf71_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I003870	3870732	3872060	1.08	[{'connected_gene': 'ZNF75A', 'score': 38.89}, {'connected_gene': 'ANKS3', 'score': 36.91}, {'connected_gene': 'ZNF213-AS1', 'score': 35.73}, {'connected_gene': 'TIGD7', 'score': 26.66}, {'connected_gene': 'C16orf71', 'score': 14.08}, {'connected_gene': 'CLUAP1', 'score': 13.2}, {'connected_gene': 'ZNF200', 'score': 12.4}, {'connected_gene': 'FLYWCH2', 'score': 11.25}, {'connected_gene': 'ZNF174', 'score': 11.11}, {'connected_gene': 'MTCO1P28', 'score': 10.81}, {'connected_gene': 'ENSG00000263235', 'score': 10.53}, {'connected_gene': 'FLYWCH1', 'score': 10.38}, {'connected_gene': 'MTND1P8', 'score': 10.09}, {'connected_gene': 'ZSCAN32', 'score': 9.91}, {'connected_gene': 'ZNF500', 'score': 9.69}, {'connected_gene': 'CREBBP', 'score': 0.44}, {'connected_gene': 'ENSG00000262516', 'score': 0.29}]
chr16	GH16I004743	4743201	4743800	0.54	[{'connected_gene': 'ZNF500', 'score': 32.74}, {'connected_gene': 'MGRN1', 'score': 5.94}, {'connected_gene': 'C16orf71', 'score': 0.44}, {'connected_gene': 'ANKS3', 'score': 0.44}, {'connected_gene': 'ENSG00000266994', 'score': 0.44}, {'connected_gene': 'GC16P004728', 'score': 0.37}]
chr16	GH16I004747	4747607	4748589	0.46	[{'connected_gene': 'ZNF500', 'score': 34.52}, {'connected_gene': 'ENSG00000266994', 'score': 0.77}, {'connected_gene': 'C16orf71', 'score': 0.39}, {'connected_gene': 'ANKS3', 'score': 0.39}, {'connected_gene': 'GC16P004728', 'score': 0.37}]
chr16	GH16I004745	4745220	4745429	0.59	[{'connected_gene': 'ZNF500', 'score': 33.37}, {'connected_gene': 'ENSG00000266994', 'score': 0.44}, {'connected_gene': 'C16orf71', 'score': 0.39}, {'connected_gene': 'ANKS3', 'score': 0.39}, {'connected_gene': 'GC16P004728', 'score': 0.37}]
chr16	GH16I004765	4765346	4769579	2.39	[{'connected_gene': 'ZNF500', 'score': 561.9}, {'connected_gene': 'SEPT12', 'score': 13.35}, {'connected_gene': 'ROGDI', 'score': 12.24}, {'connected_gene': 'ANKS3', 'score': 12.19}, {'connected_gene': 'C16orf71', 'score': 12.19}, {'connected_gene': 'GLYR1', 'score': 10.69}, {'connected_gene': 'UBN1', 'score': 10.69}, {'connected_gene': 'SMIM22', 'score': 8.12}, {'connected_gene': 'SEC14L5', 'score': 1.92}, {'connected_gene': 'CDIP1', 'score': 1.28}, {'connected_gene': 'ENSG00000276096', 'score': 0.39}]
chr16	GH16I004020	4020660	4021959	1.08	[{'connected_gene': 'CREBBP', 'score': 10.87}, {'connected_gene': 'ADCY9', 'score': 10.82}, {'connected_gene': 'C16orf71', 'score': 5.08}, {'connected_gene': 'CDIP1', 'score': 4.47}, {'connected_gene': 'GC16M004019', 'score': 0.77}, {'connected_gene': 'GC16M003975', 'score': 0.26}]
chr16	GH16I004018	4018366	4020311	0.82	[{'connected_gene': 'CREBBP', 'score': 10.88}, {'connected_gene': 'ADCY9', 'score': 10.82}, {'connected_gene': 'C16orf71', 'score': 5.08}, {'connected_gene': 'GC16M004019', 'score': 0.44}, {'connected_gene': 'GC16M003975', 'score': 0.26}]
chr16	GH16I004733	4733200	4735590	2.05	[{'connected_gene': 'ANKS3', 'score': 563.16}, {'connected_gene': 'C16orf71', 'score': 550.77}, {'connected_gene': 'ZNF500', 'score': 35.81}, {'connected_gene': 'CREBBP', 'score': 24.24}, {'connected_gene': 'UBN1', 'score': 13.23}, {'connected_gene': 'EEF2KMT', 'score': 12.4}, {'connected_gene': 'LOC102724927', 'score': 10.6}, {'connected_gene': 'MGRN1', 'score': 7.18}, {'connected_gene': 'GC16P004728', 'score': 0.44}, {'connected_gene': 'ENSG00000266994', 'score': 0.37}]
chr16	GH16I004010	4010865	4017237	1.37	[{'connected_gene': 'ADCY9', 'score': 10.91}, {'connected_gene': 'CREBBP', 'score': 10.88}, {'connected_gene': 'C16orf71', 'score': 5.07}, {'connected_gene': 'CDIP1', 'score': 4.46}, {'connected_gene': 'CORO7', 'score': 3.41}, {'connected_gene': 'GC16M004019', 'score': 0.39}, {'connected_gene': 'GC16M003975', 'score': 0.28}]
chr16	GH16I004894	4894876	4895060	0.57	[{'connected_gene': 'LOC105371064', 'score': 550.77}, {'connected_gene': 'GLYR1', 'score': 16.09}, {'connected_gene': 'PPL', 'score': 11.67}, {'connected_gene': 'UBN1', 'score': 11.67}, {'connected_gene': 'SEPT12', 'score': 3.33}, {'connected_gene': 'C16orf71', 'score': 3.05}, {'connected_gene': 'HMOX2', 'score': 2.79}, {'connected_gene': 'SEC14L5', 'score': 2.74}, {'connected_gene': 'ROGDI', 'score': 1.99}, {'connected_gene': 'CDIP1', 'score': 1.89}, {'connected_gene': 'PIR34804', 'score': 0.44}]