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
ENST00000304301	[[4743694, 4743880], [4743978, 4744239], [4744958, 4745860]]	[[4743727, 4743880], [4743978, 4744239], [4744958, 4745180]]
ENST00000586252	[[4743703, 4743880], [4743978, 4744239], [4745078, 4745562]]	[[4743727, 4743880], [4743978, 4744239], [4745078, 4745180]]
ENST00000586536	[[4743707, 4743880], [4743978, 4744309], [4744958, 4745860]]	[[4743727, 4743880], [4743978, 4744309], [4744958, 4745053]]
ENST00000405142	[[4743718, 4743880], [4743978, 4745856]]	[[4743727, 4743880], [4743978, 4744569]]
ENST00000590460	[[4743761, 4743880], [4743984, 4744239], [4744958, 4745293]]	[[4743761, 4743880], [4743984, 4744239], [4744958, 4745180]]
NM_032349	[[4743693, 4743880], [4743978, 4744239], [4744958, 4745860]]	[[4743727, 4743880], [4743978, 4744239], [4744958, 4745180]]
NM_001193452	[[4743693, 4743880], [4743978, 4744309], [4744958, 4745860]]	[[4743727, 4743880], [4743978, 4744309], [4744958, 4745053]]

Promoter

Chrom	Start	End	Description
chr16	4743688	4743706	CAGE_peak_2_at_NUDT16L1_5end
chr16	4743707	4743728	CAGE_peak_1_at_NUDT16L1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I004820	4820445	4822248	0.2	[{'connected_gene': 'GLYR1', 'score': 18.48}, {'connected_gene': 'UBN1', 'score': 12.37}, {'connected_gene': 'SEPT12', 'score': 11.86}, {'connected_gene': 'NUDT16L1', 'score': 10.95}, {'connected_gene': 'GC16M004803', 'score': 0.37}, {'connected_gene': 'ENSG00000275056', 'score': 0.37}]
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	GH16I004651	4651885	4656628	0.87	[{'connected_gene': 'NUDT16L1', 'score': 12.01}, {'connected_gene': 'MGRN1', 'score': 9.97}, {'connected_gene': 'ENSG00000278700', 'score': 0.77}, {'connected_gene': 'ENSG00000261442', 'score': 0.39}]
chr16	GH16I004649	4649974	4651229	1.09	[{'connected_gene': 'NUDT16L1', 'score': 11.84}, {'connected_gene': 'ENSG00000261442', 'score': 0.44}, {'connected_gene': 'ENSG00000278700', 'score': 0.44}, {'connected_gene': 'MGRN1', 'score': 0.29}]
chr16	GH16I004647	4647100	4647249	0.2	[{'connected_gene': 'NUDT16L1', 'score': 11.83}, {'connected_gene': 'ENSG00000261442', 'score': 0.44}, {'connected_gene': 'ENSG00000278700', 'score': 0.39}, {'connected_gene': 'MGRN1', 'score': 0.29}]
chr16	GH16I004629	4628601	4628800	0.2	[{'connected_gene': 'NUDT16L1', 'score': 12.16}, {'connected_gene': 'RN7SL850P', 'score': 0.44}, {'connected_gene': 'MGRN1', 'score': 0.39}]
chr16	GH16I004684	4684820	4684969	0.62	[{'connected_gene': 'NUDT16L1', 'score': 0.44}, {'connected_gene': 'MIR6769A', 'score': 0.39}, {'connected_gene': 'MGRN1', 'score': 0.2}]
chr16	GH16I004407	4407457	4417616	2.52	[{'connected_gene': 'CORO7', 'score': 561.94}, {'connected_gene': 'CORO7-PAM16', 'score': 550.44}, {'connected_gene': 'NMRAL1', 'score': 38.07}, {'connected_gene': 'HMOX2', 'score': 11.04}, {'connected_gene': 'MGRN1', 'score': 6.39}, {'connected_gene': 'NUDT16L1', 'score': 2.58}, {'connected_gene': 'VASN', 'score': 0.26}]
chr16	GH16I004494	4494331	4497655	1.5	[{'connected_gene': 'NMRAL1', 'score': 599.26}, {'connected_gene': 'HMOX2', 'score': 563.01}, {'connected_gene': 'CDIP1', 'score': 12.42}, {'connected_gene': 'NUDT16L1', 'score': 10.3}, {'connected_gene': 'GC16P004506', 'score': 0.39}]
chr16	GH16I004473	4473474	4478862	2.3	[{'connected_gene': 'NMRAL1', 'score': 600.21}, {'connected_gene': 'HMOX2', 'score': 565.99}, {'connected_gene': 'CREBBP', 'score': 37.56}, {'connected_gene': 'ZNF500', 'score': 35.38}, {'connected_gene': 'CDIP1', 'score': 17.26}, {'connected_gene': 'UBN1', 'score': 14.69}, {'connected_gene': 'NUDT16L1', 'score': 10.54}, {'connected_gene': 'ENSG00000261938', 'score': 10.16}, {'connected_gene': 'MGRN1', 'score': 6.12}, {'connected_gene': 'GC16P004473', 'score': 0.77}]
chr16	GH16I004479	4479008	4479888	0.31	[{'connected_gene': 'NMRAL1', 'score': 33.5}, {'connected_gene': 'CDIP1', 'score': 12.57}, {'connected_gene': 'NUDT16L1', 'score': 10.53}, {'connected_gene': 'HMOX2', 'score': 0.77}]
chr16	GH16I004481	4481705	4482510	0.83	[{'connected_gene': 'NMRAL1', 'score': 20.1}, {'connected_gene': 'CDIP1', 'score': 12.57}, {'connected_gene': 'NUDT16L1', 'score': 10.53}, {'connected_gene': 'MGRN1', 'score': 4.77}, {'connected_gene': 'HMOX2', 'score': 0.44}]
chr16	GH16I004485	4485274	4491509	1.06	[{'connected_gene': 'NMRAL1', 'score': 52.89}, {'connected_gene': 'CDIP1', 'score': 30.08}, {'connected_gene': 'HMOX2', 'score': 15.44}, {'connected_gene': 'NUDT16L1', 'score': 10.62}, {'connected_gene': 'CORO7', 'score': 6.59}, {'connected_gene': 'MGRN1', 'score': 6.22}]
chr16	GH16I004628	4628372	4628563	0.24	[{'connected_gene': 'UBN1', 'score': 29.8}, {'connected_gene': 'MGRN1', 'score': 15.26}, {'connected_gene': 'NUDT16L1', 'score': 12.16}, {'connected_gene': 'CORO7', 'score': 3.69}, {'connected_gene': 'GLYR1', 'score': 2.03}, {'connected_gene': 'RN7SL850P', 'score': 0.44}]
chr16	GH16I004690	4690897	4691559	0.38	[{'connected_gene': 'ZNF500', 'score': 5.8}, {'connected_gene': 'NUDT16L1', 'score': 0.77}, {'connected_gene': 'MIR6769A', 'score': 0.37}, {'connected_gene': 'MGRN1', 'score': 0.19}]
chr16	GH16I004818	4818521	4819171	0.38	[{'connected_gene': 'ZNF500', 'score': 25.72}, {'connected_gene': 'UBN1', 'score': 21.24}, {'connected_gene': 'CREBBP', 'score': 12.87}, {'connected_gene': 'GLYR1', 'score': 11.59}, {'connected_gene': 'SEPT12', 'score': 11.41}, {'connected_gene': 'NUDT16L1', 'score': 11.1}, {'connected_gene': 'PPL', 'score': 10.63}, {'connected_gene': 'SMIM22', 'score': 8.23}, {'connected_gene': 'GC16M004803', 'score': 0.39}, {'connected_gene': 'ENSG00000275056', 'score': 0.34}]
chr16	GH16I004714	4714096	4714545	0.31	[{'connected_gene': 'ZNF500', 'score': 6.5}, {'connected_gene': 'GC16P004728', 'score': 0.39}, {'connected_gene': 'ANKS3', 'score': 0.34}, {'connected_gene': 'NUDT16L1', 'score': 0.34}]
chr16	GH16I003998	3998334	4001538	0.96	[{'connected_gene': 'ZNF500', 'score': 12.7}, {'connected_gene': 'ADCY9', 'score': 11.12}, {'connected_gene': 'ENSG00000261938', 'score': 11.09}, {'connected_gene': 'CREBBP', 'score': 10.65}, {'connected_gene': 'NUDT16L1', 'score': 4.83}, {'connected_gene': 'GC16M003975', 'score': 0.34}, {'connected_gene': 'GC16M004019', 'score': 0.31}]
chr16	GH16I004658	4658914	4666191	1.6	[{'connected_gene': 'MGRN1', 'score': 33.31}, {'connected_gene': 'NUDT16L1', 'score': 13.02}, {'connected_gene': 'PPL', 'score': 10.55}, {'connected_gene': 'SEPT12', 'score': 4.72}, {'connected_gene': 'CORO7', 'score': 1.94}, {'connected_gene': 'GLYR1', 'score': 1.61}, {'connected_gene': 'NAGPA', 'score': 1.31}, {'connected_gene': 'ENSG00000278700', 'score': 0.77}, {'connected_gene': 'MIR6769A', 'score': 0.44}]
chr16	GH16I004701	4701779	4703075	0.93	[{'connected_gene': 'MGRN1', 'score': 34.66}, {'connected_gene': 'NUDT16L1', 'score': 0.44}, {'connected_gene': 'GC16P004728', 'score': 0.31}, {'connected_gene': 'ANKS3', 'score': 0.29}]
chr16	GH16I004696	4696491	4697663	0.38	[{'connected_gene': 'MGRN1', 'score': 29.84}, {'connected_gene': 'ZNF500', 'score': 6.3}, {'connected_gene': 'NUDT16L1', 'score': 0.77}, {'connected_gene': 'GC16P004728', 'score': 0.29}, {'connected_gene': 'ANKS3', 'score': 0.28}]
chr16	GH16I004691	4690233	4690785	0.56	[{'connected_gene': 'MGRN1', 'score': 39.24}, {'connected_gene': 'ZNF500', 'score': 5.81}, {'connected_gene': 'NUDT16L1', 'score': 0.77}, {'connected_gene': 'MIR6769A', 'score': 0.37}]
chr16	GH16I004681	4681744	4683627	1.31	[{'connected_gene': 'MGRN1', 'score': 45.0}, {'connected_gene': 'ZNF500', 'score': 5.44}, {'connected_gene': 'CORO7', 'score': 2.31}, {'connected_gene': 'ROGDI', 'score': 1.31}, {'connected_gene': 'MIR6769A', 'score': 0.39}, {'connected_gene': 'NUDT16L1', 'score': 0.39}]
chr16	GH16I004675	4675073	4681376	1.49	[{'connected_gene': 'MGRN1', 'score': 46.56}, {'connected_gene': 'ZNF500', 'score': 5.95}, {'connected_gene': 'MIR6769A', 'score': 0.44}, {'connected_gene': 'NUDT16L1', 'score': 0.37}]
chr16	GH16I004851	4851243	4853418	0.86	[{'connected_gene': 'SEPT12', 'score': 11.23}, {'connected_gene': 'PPL', 'score': 10.99}, {'connected_gene': 'ZNF500', 'score': 10.81}, {'connected_gene': 'NUDT16L1', 'score': 10.79}, {'connected_gene': 'SMIM22', 'score': 6.95}, {'connected_gene': 'ENSG00000267077', 'score': 5.96}, {'connected_gene': 'GLYR1', 'score': 0.77}, {'connected_gene': 'UBN1', 'score': 0.44}, {'connected_gene': 'PIR33451', 'score': 0.44}]
chr16	GH16I004630	4630849	4632057	0.43	[{'connected_gene': 'ANKS3', 'score': 20.44}, {'connected_gene': 'NUDT16L1', 'score': 12.16}, {'connected_gene': 'NMRAL1', 'score': 10.59}, {'connected_gene': 'MGRN1', 'score': 6.81}, {'connected_gene': 'PAM16', 'score': 4.56}, {'connected_gene': 'RN7SL850P', 'score': 0.77}]
chr16	GH16I004632	4632598	4633284	0.2	[{'connected_gene': 'RN7SL850P', 'score': 550.77}, {'connected_gene': 'NUDT16L1', 'score': 12.16}, {'connected_gene': 'NMRAL1', 'score': 11.57}, {'connected_gene': 'MGRN1', 'score': 7.37}]
chr16	GH16I004633	4633868	4635469	0.2	[{'connected_gene': 'RN7SL850P', 'score': 550.77}, {'connected_gene': 'NMRAL1', 'score': 12.19}, {'connected_gene': 'NUDT16L1', 'score': 12.17}, {'connected_gene': 'ENSG00000261442', 'score': 0.44}, {'connected_gene': 'MGRN1', 'score': 0.37}]
chr16	GH16I004672	4672302	4673229	0.51	[{'connected_gene': 'MIR6769A', 'score': 550.77}, {'connected_gene': 'MGRN1', 'score': 7.6}, {'connected_gene': 'NUDT16L1', 'score': 0.34}]
chr16	GH16I004639	4639112	4641600	0.83	[{'connected_gene': 'ENSG00000261442', 'score': 550.77}, {'connected_gene': 'NUDT16L1', 'score': 11.95}, {'connected_gene': 'ZNF500', 'score': 10.84}, {'connected_gene': 'NMRAL1', 'score': 10.5}, {'connected_gene': 'MGRN1', 'score': 7.21}, {'connected_gene': 'CDIP1', 'score': 5.98}, {'connected_gene': 'RN7SL850P', 'score': 0.44}]
chr16	GH16I004641	4641801	4642400	0.4	[{'connected_gene': 'ENSG00000261442', 'score': 550.77}, {'connected_gene': 'NUDT16L1', 'score': 11.95}, {'connected_gene': 'ZNF500', 'score': 10.84}, {'connected_gene': 'MGRN1', 'score': 10.52}, {'connected_gene': 'ENSG00000278700', 'score': 0.37}]
chr16	GH16I004709	4709640	4709789	0.38	[{'connected_gene': 'GC16P004728', 'score': 0.37}, {'connected_gene': 'NUDT16L1', 'score': 0.37}, {'connected_gene': 'ANKS3', 'score': 0.34}]
chr16	GH16I004872	4872791	4875991	0.4	[{'connected_gene': 'PIR38578', 'score': 550.77}, {'connected_gene': 'UBN1', 'score': 26.3}, {'connected_gene': 'GLYR1', 'score': 11.96}, {'connected_gene': 'NUDT16L1', 'score': 11.35}, {'connected_gene': 'PPL', 'score': 11.13}, {'connected_gene': 'ZNF500', 'score': 10.82}, {'connected_gene': 'SEPT12', 'score': 9.2}, {'connected_gene': 'PIR48909', 'score': 0.77}]
chr16	GH16I004867	4867085	4870714	0.69	[{'connected_gene': 'PIR48909', 'score': 550.77}, {'connected_gene': 'UBN1', 'score': 23.19}, {'connected_gene': 'SEPT12', 'score': 22.57}, {'connected_gene': 'ZNF500', 'score': 16.24}, {'connected_gene': 'GLYR1', 'score': 11.99}, {'connected_gene': 'NUDT16L1', 'score': 11.36}, {'connected_gene': 'PPL', 'score': 11.31}, {'connected_gene': 'SMIM22', 'score': 6.16}, {'connected_gene': 'ENSG00000267077', 'score': 5.94}, {'connected_gene': 'MGRN1', 'score': 5.46}, {'connected_gene': 'PIR31758', 'score': 0.44}, {'connected_gene': 'GC16P004860', 'score': 0.44}]
chr16	GH16I004656	4656862	4657799	0.49	[{'connected_gene': 'ENSG00000278700', 'score': 550.77}, {'connected_gene': 'CREBBP', 'score': 14.68}, {'connected_gene': 'ZNF500', 'score': 13.77}, {'connected_gene': 'NUDT16L1', 'score': 13.0}, {'connected_gene': 'PPL', 'score': 10.55}, {'connected_gene': 'MGRN1', 'score': 8.31}, {'connected_gene': 'ENSG00000261442', 'score': 0.37}]