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
ENST00000543942	[[64660216, 64661068], [64664315, 64664494], [64668680, 64668755], [64669077, 64669152], [64671459, 64671583], [64678443, 64678533], [64679733, 64679840], [64697414, 64697559], [64706458, 64706532], [64712354, 64712760], [64724739, 64724812], [64746673, 64746836], [64784093, 64784972]]	[[64660962, 64661068], [64664315, 64664494], [64668680, 64668755], [64669077, 64669152], [64671459, 64671583], [64678443, 64678533], [64679733, 64679840], [64697414, 64697559], [64706458, 64706532], [64712354, 64712760], [64724739, 64724812], [64746673, 64746836], [64784093, 64784345]]
ENST00000333722	[[64660765, 64661068], [64664315, 64664494], [64668680, 64668755], [64669077, 64669152], [64671459, 64671583], [64678443, 64678533], [64679733, 64679840], [64697414, 64697559], [64724739, 64724812], [64746673, 64746836], [64784093, 64784471]]	[[64660962, 64661068], [64664315, 64664494], [64668680, 64668755], [64669077, 64669152], [64671459, 64671583], [64678443, 64678533], [64679733, 64679840], [64697414, 64697559], [64724739, 64724812], [64746673, 64746836], [64784093, 64784345]]
ENST00000543259	[[64697529, 64697559], [64706458, 64706532], [64724739, 64724812], [64746673, 64746836], [64784093, 64784306]]	[[64697529, 64697559], [64706458, 64706532], [64724739, 64724812], [64746673, 64746836], [64784093, 64784306]]
ENST00000535515	[[64660762, 64661068], [64661318, 64661463], [64664315, 64664353]]	None
ENST00000542397	[[64660762, 64661068], [64664315, 64664494], [64668680, 64668755], [64669077, 64669152], [64678443, 64678533], [64679733, 64679840], [64687060, 64687163]]	None
ENST00000536975	[[64660762, 64661068], [64664315, 64664494], [64668680, 64668755], [64669077, 64669152], [64671459, 64671583], [64678443, 64678533], [64679733, 64679840], [64687060, 64687163]]	None
ENST00000541802	[[64664464, 64664494], [64668680, 64669152], [64678443, 64678533], [64679733, 64679857]]	None
NM_001170633	[[64660762, 64661068], [64664315, 64664494], [64668680, 64668755], [64669077, 64669152], [64671459, 64671583], [64678443, 64678533], [64679733, 64679840], [64697414, 64697559], [64706458, 64706532], [64712354, 64712760], [64724739, 64724812], [64746673, 64746836], [64784093, 64784345]]	[[64660962, 64661068], [64664315, 64664494], [64668680, 64668755], [64669077, 64669152], [64671459, 64671583], [64678443, 64678533], [64679733, 64679840], [64697414, 64697559], [64706458, 64706532], [64712354, 64712760], [64724739, 64724812], [64746673, 64746836], [64784093, 64784345]]
NM_001099676	[[64660762, 64661068], [64664315, 64664494], [64668680, 64668755], [64669077, 64669152], [64671459, 64671583], [64678443, 64678533], [64679733, 64679840], [64697414, 64697559], [64724739, 64724812], [64746673, 64746836], [64784093, 64784345]]	[[64660962, 64661068], [64664315, 64664494], [64668680, 64668755], [64669077, 64669152], [64671459, 64671583], [64678443, 64678533], [64679733, 64679840], [64697414, 64697559], [64724739, 64724812], [64746673, 64746836], [64784093, 64784345]]

Promoter

Chrom	Start	End	Description
chr12	64784360	64784378	CAGE_peak_4_at_C12orf56_5end
chr12	64784476	64784503	CAGE_peak_1_at_C12orf56_5end
chr12	64784522	64784543	CAGE_peak_3_at_C12orf56_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I064218	64218165	64223030	2.28	[{'connected_gene': 'RPS11P6', 'score': 550.77}, {'connected_gene': 'C12orf66', 'score': 550.37}, {'connected_gene': 'LOC100420899', 'score': 15.69}, {'connected_gene': 'LEMD3', 'score': 13.26}, {'connected_gene': 'C12orf56', 'score': 6.23}, {'connected_gene': 'RNU6-1009P', 'score': 0.37}]
chr12	GH12I064252	64252393	64253428	0.66	[{'connected_gene': 'RPS11P6', 'score': 11.48}, {'connected_gene': 'RNU6-1009P', 'score': 10.63}, {'connected_gene': 'XPOT', 'score': 10.3}, {'connected_gene': 'ENSG00000255629', 'score': 10.11}, {'connected_gene': 'C12orf56', 'score': 5.66}, {'connected_gene': 'ENSG00000256192', 'score': 0.39}, {'connected_gene': 'C12orf66', 'score': 0.37}]
chr12	GH12I064385	64385063	64386319	0.49	[{'connected_gene': 'TBK1', 'score': 6.26}, {'connected_gene': 'C12orf56', 'score': 5.4}, {'connected_gene': 'ENSG00000238440', 'score': 0.31}, {'connected_gene': 'RPS11P6', 'score': 0.1}]
chr12	GH12I064361	64361954	64363817	0.46	[{'connected_gene': 'TBK1', 'score': 6.48}, {'connected_gene': 'XPOT', 'score': 5.25}, {'connected_gene': 'ENSG00000238440', 'score': 0.44}, {'connected_gene': 'C12orf56', 'score': 0.31}, {'connected_gene': 'RPS11P6', 'score': 0.11}]
chr12	GH12I064323	64323881	64324570	0.2	[{'connected_gene': 'C12orf56', 'score': 22.75}, {'connected_gene': 'ATP6V1E1P3', 'score': 0.39}, {'connected_gene': 'ENSG00000256192', 'score': 0.22}, {'connected_gene': 'RPS11P6', 'score': 0.15}]
chr12	GH12I064318	64318308	64319114	0.77	[{'connected_gene': 'C12orf56', 'score': 21.71}, {'connected_gene': 'ATP6V1E1P3', 'score': 0.34}, {'connected_gene': 'ENSG00000256192', 'score': 0.23}, {'connected_gene': 'RPS11P6', 'score': 0.15}]
chr12	GH12I064390	64390301	64391001	1.49	[{'connected_gene': 'C12orf56', 'score': 550.77}, {'connected_gene': 'TBK1', 'score': 7.91}, {'connected_gene': 'ENSG00000238440', 'score': 0.29}, {'connected_gene': 'RPS11P6', 'score': 0.1}]
chr12	GH12I064403	64403281	64406288	2.11	[{'connected_gene': 'XPOT', 'score': 550.77}, {'connected_gene': 'LEMD3', 'score': 39.97}, {'connected_gene': 'TBK1', 'score': 36.89}, {'connected_gene': 'SRGAP1', 'score': 11.38}, {'connected_gene': 'ENSG00000250280', 'score': 10.3}, {'connected_gene': 'PABPC1P4', 'score': 10.07}, {'connected_gene': 'C12orf56', 'score': 5.49}, {'connected_gene': 'LOC100420899', 'score': 0.28}]
chr12	GH12I064399	64399717	64400685	0.67	[{'connected_gene': 'XPOT', 'score': 0.77}, {'connected_gene': 'C12orf56', 'score': 0.44}]
chr12	GH12I064273	64273676	64274410	0.62	[{'connected_gene': 'RNU6-1009P', 'score': 9.97}, {'connected_gene': 'ENSG00000255629', 'score': 9.72}, {'connected_gene': 'C12orf56', 'score': 5.3}, {'connected_gene': 'ENSG00000256192', 'score': 0.44}, {'connected_gene': 'RPS11P6', 'score': 0.23}, {'connected_gene': 'ATP6V1E1P3', 'score': 0.21}]
chr12	GH12I064130	64130536	64130655	0.38	[{'connected_gene': 'LOC105369798', 'score': 550.77}, {'connected_gene': 'DPY19L2', 'score': 4.78}, {'connected_gene': 'C12orf56', 'score': 1.53}, {'connected_gene': 'GC12P064147', 'score': 0.37}, {'connected_gene': 'SRGAP1', 'score': 0.06}]