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
ENST00000458008	[[5134304, 5135733], [5139107, 5139257], [5140084, 5140350], [5140432, 5140566], [5143484, 5143565], [5145452, 5145515], [5147644, 5147789]]	[[5135632, 5135733], [5139107, 5139257], [5140084, 5140350], [5140432, 5140566], [5143484, 5143565], [5145452, 5145515], [5147644, 5147740]]
ENST00000427587	[[5134304, 5135733], [5139107, 5139257], [5140084, 5140350], [5140432, 5140566], [5141794, 5141896], [5143484, 5143565], [5145452, 5145515], [5147644, 5147809]]	[[5135632, 5135733], [5139107, 5139257], [5140084, 5140350], [5140432, 5140566], [5141794, 5141896], [5143484, 5143565], [5145452, 5145515], [5147644, 5147740]]
ENST00000585436	[[5134718, 5135733], [5139107, 5139257], [5140432, 5140566], [5141794, 5141896], [5145375, 5145515], [5147644, 5147755]]	[[5145389, 5145515], [5147644, 5147740]]
ENST00000587161	[[5135363, 5135733], [5139107, 5139257], [5140084, 5140350], [5140432, 5140566], [5141794, 5141896], [5145452, 5145515], [5147280, 5147354], [5147644, 5147767]]	[[5145508, 5145515], [5147280, 5147354], [5147644, 5147740]]
ENST00000587608	[[5135536, 5135733], [5139107, 5139429]]	None
ENST00000587133	[[5135572, 5135733], [5139107, 5139257], [5140084, 5140350], [5140432, 5140566], [5145452, 5145515], [5147644, 5147743]]	[[5135632, 5135733], [5139107, 5139257], [5140084, 5140350], [5140432, 5140566], [5145452, 5145515], [5147644, 5147740]]
ENST00000587200	[[5135615, 5135733], [5139107, 5139257], [5141794, 5141939], [5145375, 5145515], [5147644, 5147775]]	[[5145389, 5145515], [5147644, 5147740]]
ENST00000585975	[[5139176, 5139257], [5140084, 5140566], [5141794, 5141896], [5143484, 5143565], [5145452, 5145515], [5147644, 5147779]]	None
ENST00000586444	[[5140241, 5140350], [5140432, 5140566], [5141794, 5141896], [5143484, 5143565], [5145452, 5145515], [5147280, 5147787]]	None
NM_201400	[[5134300, 5135733], [5139107, 5139257], [5140084, 5140350], [5140432, 5140566], [5141794, 5141896], [5143484, 5143565], [5145452, 5145515], [5147644, 5147821]]	[[5135632, 5135733], [5139107, 5139257], [5140084, 5140350], [5140432, 5140566], [5141794, 5141896], [5143484, 5143565], [5145452, 5145515], [5147644, 5147740]]
NM_201598	[[5134300, 5135733], [5139107, 5139257], [5140084, 5140350], [5140432, 5140566], [5143484, 5143565], [5145452, 5145515], [5147644, 5147821]]	[[5135632, 5135733], [5139107, 5139257], [5140084, 5140350], [5140432, 5140566], [5143484, 5143565], [5145452, 5145515], [5147644, 5147740]]
NM_001289029	[[5134300, 5135733], [5139107, 5139257], [5140084, 5140350], [5140432, 5140566], [5145452, 5145515], [5147644, 5147821]]	[[5135632, 5135733], [5139107, 5139257], [5140084, 5140350], [5140432, 5140566], [5145452, 5145515], [5147644, 5147740]]

Promoter

Chrom	Start	End	Description
chr16	5147794	5147797	CAGE_peak_1_at_FAM86A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I004692	4692080	4696365	2.19	[{'connected_gene': 'NUDT16L1', 'score': 550.77}, {'connected_gene': 'ZNF500', 'score': 32.68}, {'connected_gene': 'MGRN1', 'score': 29.47}, {'connected_gene': 'EEF2KMT', 'score': 22.15}, {'connected_gene': 'CREBBP', 'score': 21.85}, {'connected_gene': 'UBN1', 'score': 13.2}, {'connected_gene': 'ANKS3', 'score': 12.82}, {'connected_gene': 'ALG1', 'score': 10.51}, {'connected_gene': 'GLYR1', 'score': 9.86}, {'connected_gene': 'HMOX2', 'score': 5.95}, {'connected_gene': 'GC16P004728', 'score': 0.29}]
chr16	GH16I004800	4800021	4805682	2.21	[{'connected_gene': 'ROGDI', 'score': 573.28}, {'connected_gene': 'GC16M004803', 'score': 550.77}, {'connected_gene': 'CREBBP', 'score': 21.36}, {'connected_gene': 'SEPT12', 'score': 14.85}, {'connected_gene': 'ENSG00000267077', 'score': 14.54}, {'connected_gene': 'ZNF500', 'score': 13.64}, {'connected_gene': 'UBN1', 'score': 13.36}, {'connected_gene': 'EEF2KMT', 'score': 12.41}, {'connected_gene': 'PAM16', 'score': 5.23}, {'connected_gene': 'GLYR1', 'score': 0.26}]
chr16	GH16I004536	4536911	4539471	2.57	[{'connected_gene': 'CDIP1', 'score': 587.69}, {'connected_gene': 'C16orf96', 'score': 550.77}, {'connected_gene': 'ZNF500', 'score': 35.44}, {'connected_gene': 'NMRAL1', 'score': 32.71}, {'connected_gene': 'ANKS3', 'score': 28.41}, {'connected_gene': 'ENSG00000261938', 'score': 18.07}, {'connected_gene': 'CREBBP', 'score': 11.76}, {'connected_gene': 'EEF2KMT', 'score': 11.53}, {'connected_gene': 'HMOX2', 'score': 10.81}, {'connected_gene': 'GLIS2-AS1', 'score': 10.52}, {'connected_gene': 'GLIS2', 'score': 10.11}, {'connected_gene': 'MGRN1', 'score': 6.28}, {'connected_gene': 'PPL', 'score': 1.92}, {'connected_gene': 'ENSG00000278434', 'score': 0.77}]
chr16	GH16I004666	4666710	4668404	0.67	[{'connected_gene': 'ZNF500', 'score': 24.71}, {'connected_gene': 'MGRN1', 'score': 22.04}, {'connected_gene': 'ALG1', 'score': 20.4}, {'connected_gene': 'EEF2KMT', 'score': 12.2}, {'connected_gene': 'ANKS3', 'score': 11.1}, {'connected_gene': 'MIR6769A', 'score': 0.77}, {'connected_gene': 'ENSG00000278700', 'score': 0.44}]
chr16	GH16I004611	4611025	4620118	2.52	[{'connected_gene': 'MGRN1', 'score': 566.83}, {'connected_gene': 'GC16M004615', 'score': 550.77}, {'connected_gene': 'UBALD1', 'score': 550.77}, {'connected_gene': 'CREBBP', 'score': 53.27}, {'connected_gene': 'ZNF500', 'score': 44.43}, {'connected_gene': 'ANKS3', 'score': 12.68}, {'connected_gene': 'UBN1', 'score': 11.35}, {'connected_gene': 'EEF2KMT', 'score': 9.9}, {'connected_gene': 'HMOX2', 'score': 4.85}]
chr16	GH16I005092	5092236	5092602	0.86	[{'connected_gene': 'EEF2KMT', 'score': 0.44}, {'connected_gene': 'ENSG00000260882', 'score': 0.39}]
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	GH16I005096	5096625	5099590	1.99	[{'connected_gene': 'LOC105371065', 'score': 550.77}, {'connected_gene': 'EEF2KMT', 'score': 550.77}, {'connected_gene': 'ANKS3', 'score': 17.14}, {'connected_gene': 'ZNF500', 'score': 9.72}]
chr16	GH16I005084	5084920	5085049	0.57	[{'connected_gene': 'ENSG00000260882', 'score': 0.44}, {'connected_gene': 'EEF2KMT', 'score': 0.39}, {'connected_gene': 'ALG1', 'score': 0.23}]