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
ENST00000369443	[[118406106, 118413238], [118420630, 118420774], [118424444, 118424499], [118426109, 118426249], [118429198, 118429275], [118430319, 118430396], [118439454, 118439611], [118441678, 118441838], [118449127, 118449204], [118454615, 118454704], [118455151, 118455305], [118461218, 118461358], [118462804, 118463047], [118472070, 118472253]]	[[118413190, 118413238], [118420630, 118420774], [118424444, 118424499], [118426109, 118426249], [118429198, 118429275], [118430319, 118430396], [118439454, 118439611], [118441678, 118441838], [118449127, 118449204], [118454615, 118454704], [118455151, 118455305], [118461218, 118461358], [118462804, 118462980]]
ENST00000491626	[[118412805, 118413238], [118420397, 118420463], [118420630, 118420774], [118424444, 118424499], [118426109, 118426249], [118429198, 118429275], [118430319, 118430355]]	None
ENST00000369442	[[118419843, 118420774], [118424444, 118424499], [118426109, 118426249], [118429198, 118429275], [118430319, 118430396], [118439454, 118439611], [118441678, 118441838], [118449127, 118449204], [118454615, 118454704], [118455151, 118455305], [118461218, 118461358], [118462804, 118463047], [118472070, 118472206]]	[[118420585, 118420774], [118424444, 118424499], [118426109, 118426249], [118429198, 118429275], [118430319, 118430396], [118439454, 118439611], [118441678, 118441838], [118449127, 118449204], [118454615, 118454704], [118455151, 118455305], [118461218, 118461358], [118462804, 118462980]]
ENST00000464026	[[118425525, 118426249], [118429198, 118429275], [118430319, 118430396], [118439454, 118439611], [118441678, 118441752]]	None
ENST00000493555	[[118439237, 118439611], [118441678, 118441838], [118449127, 118449204], [118454615, 118454704], [118455151, 118455305], [118461218, 118461358], [118462804, 118462830]]	None
ENST00000494224	[[118455151, 118455305], [118456041, 118456121], [118461218, 118461358], [118462804, 118463047], [118472070, 118472183]]	None
NM_017686	[[118406106, 118413238], [118420630, 118420774], [118424444, 118424499], [118426109, 118426249], [118429198, 118429275], [118430319, 118430396], [118439454, 118439611], [118441678, 118441838], [118449127, 118449204], [118454615, 118454704], [118455151, 118455305], [118461218, 118461358], [118462804, 118463047], [118472070, 118472302]]	[[118413190, 118413238], [118420630, 118420774], [118424444, 118424499], [118426109, 118426249], [118429198, 118429275], [118430319, 118430396], [118439454, 118439611], [118441678, 118441838], [118449127, 118449204], [118454615, 118454704], [118455151, 118455305], [118461218, 118461358], [118462804, 118462980]]
NM_001135589	[[118419333, 118420774], [118424444, 118424499], [118426109, 118426249], [118429198, 118429275], [118430319, 118430396], [118439454, 118439611], [118441678, 118441838], [118449127, 118449204], [118454615, 118454704], [118455151, 118455305], [118461218, 118461358], [118462804, 118463047], [118472070, 118472302]]	[[118420585, 118420774], [118424444, 118424499], [118426109, 118426249], [118429198, 118429275], [118430319, 118430396], [118439454, 118439611], [118441678, 118441838], [118449127, 118449204], [118454615, 118454704], [118455151, 118455305], [118461218, 118461358], [118462804, 118462980]]

Promoter

Chrom	Start	End	Description
chr1	118472171	118472215	CAGE_peak_2_at_GDAP2_5end
chr1	118472216	118472262	CAGE_peak_1_at_GDAP2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I117058	117058483	117062843	2.07	[{'connected_gene': 'TTF2', 'score': 577.42}, {'connected_gene': 'LOC101929099', 'score': 556.39}, {'connected_gene': 'WDR3', 'score': 36.07}, {'connected_gene': 'GDAP2', 'score': 26.56}, {'connected_gene': 'MAN1A2', 'score': 11.41}, {'connected_gene': 'ATP1A1-AS1', 'score': 10.46}, {'connected_gene': 'CD101', 'score': 4.92}, {'connected_gene': 'MIR942', 'score': 0.29}]
chr1	GH01I117181	117181433	117182551	0.82	[{'connected_gene': 'GDAP2', 'score': 12.38}, {'connected_gene': 'VTCN1', 'score': 11.08}, {'connected_gene': 'RPS15AP9', 'score': 0.26}, {'connected_gene': 'ENSG00000277141', 'score': 0.21}]
chr1	GH01I117968	117968001	117968200	0.46	[{'connected_gene': 'GDAP2', 'score': 11.02}, {'connected_gene': 'WDR3', 'score': 11.02}, {'connected_gene': 'GC01P117963', 'score': 0.77}, {'connected_gene': 'GC01P117958', 'score': 0.44}, {'connected_gene': 'GC01M118065', 'score': 0.14}, {'connected_gene': 'SPAG17', 'score': 0.08}]
chr1	GH01I117895	117895599	117895748	0.74	[{'connected_gene': 'GDAP2', 'score': 11.1}, {'connected_gene': 'WDR3', 'score': 11.1}, {'connected_gene': 'GC01P117902', 'score': 0.44}, {'connected_gene': 'PIR54237', 'score': 0.25}]
chr1	GH01I117535	117535000	117535408	1.11	[{'connected_gene': 'GDAP2', 'score': 13.23}, {'connected_gene': 'LOC100996263', 'score': 10.94}, {'connected_gene': 'FAM46C', 'score': 10.94}, {'connected_gene': 'ENSG00000212266', 'score': 10.84}, {'connected_gene': 'GC01P117527', 'score': 0.44}, {'connected_gene': 'VPS25P1', 'score': 0.39}]
chr1	GH01I117925	117925801	117926600	0.31	[{'connected_gene': 'GDAP2', 'score': 0.77}, {'connected_gene': 'GC01P117902', 'score': 0.34}]
chr1	GH01I117651	117651583	117657615	1.73	[{'connected_gene': 'WDR3', 'score': 10.65}, {'connected_gene': 'FAM46C', 'score': 8.32}, {'connected_gene': 'MAN1A2', 'score': 3.66}, {'connected_gene': 'GDAP2', 'score': 1.55}, {'connected_gene': 'GC01P117648', 'score': 0.44}, {'connected_gene': 'GC01M117689', 'score': 0.29}, {'connected_gene': 'ENSG00000212266', 'score': 0.29}]
chr1	GH01I117928	117928385	117931250	2.01	[{'connected_gene': 'WDR3', 'score': 560.94}, {'connected_gene': 'GDAP2', 'score': 550.77}, {'connected_gene': 'GC01P117958', 'score': 0.31}]
chr1	GH01I117604	117604800	117609169	2.26	[{'connected_gene': 'LOC100996263', 'score': 557.81}, {'connected_gene': 'FAM46C', 'score': 557.64}, {'connected_gene': 'PIR50715', 'score': 550.77}, {'connected_gene': 'GDAP2', 'score': 25.53}, {'connected_gene': 'ENSG00000271427', 'score': 10.89}, {'connected_gene': 'ENSG00000212266', 'score': 10.82}, {'connected_gene': 'WDR3', 'score': 10.06}]