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

Promoter

Chrom	Start	End	Description
chr11	93474760	93474784	CAGE_peak_2_at_C11orf54_5end
chr11	93474786	93474865	CAGE_peak_1_at_C11orf54_5end
chr11	93479475	93479484	CAGE_peak_9_at_C11orf54_5end
chr11	93479510	93479548	CAGE_peak_4_at_C11orf54_5end
chr11	93479588	93479622	CAGE_peak_3_at_C11orf54_5end
chr11	93480453	93480477	CAGE_peak_7_at_C11orf54_5end
chr11	93480519	93480528	CAGE_peak_8_at_C11orf54_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I093783	93783449	93786011	2.05	[{'connected_gene': 'MED17', 'score': 593.16}, {'connected_gene': 'TAF1D', 'score': 550.77}, {'connected_gene': 'C11orf54', 'score': 59.46}, {'connected_gene': 'SNORA1', 'score': 41.9}, {'connected_gene': 'MRE11', 'score': 35.33}, {'connected_gene': 'ANKRD49', 'score': 32.09}, {'connected_gene': 'SNORA40', 'score': 11.34}, {'connected_gene': 'SNORD6', 'score': 11.33}, {'connected_gene': 'SNORD5', 'score': 11.33}, {'connected_gene': 'SNORA18', 'score': 11.33}, {'connected_gene': 'SNORA25', 'score': 11.33}, {'connected_gene': 'SNORA8', 'score': 11.33}, {'connected_gene': 'SNORA32', 'score': 11.33}, {'connected_gene': 'CEP295', 'score': 5.7}, {'connected_gene': 'GC11P093800', 'score': 0.37}, {'connected_gene': 'ENSG00000284057', 'score': 0.26}]
chr11	GH11I093576	93576555	93578120	0.4	[{'connected_gene': 'CEP295', 'score': 6.49}, {'connected_gene': 'C11orf54', 'score': 5.34}, {'connected_gene': 'SMCO4', 'score': 0.44}, {'connected_gene': 'GC11M093574', 'score': 0.39}, {'connected_gene': 'PIR62997', 'score': 0.39}]
chr11	GH11I093611	93611371	93613120	0.38	[{'connected_gene': 'LOC642897', 'score': 550.77}, {'connected_gene': 'GC11M093614', 'score': 550.77}, {'connected_gene': 'C11orf54', 'score': 9.23}, {'connected_gene': 'SMCO4', 'score': 6.71}, {'connected_gene': 'TAF1D', 'score': 6.6}, {'connected_gene': 'CEP295', 'score': 5.19}, {'connected_gene': 'GC11P093624', 'score': 0.39}]
chr11	GH11I093541	93541034	93544087	2.23	[{'connected_gene': 'SMCO4', 'score': 556.13}, {'connected_gene': 'MED17', 'score': 15.36}, {'connected_gene': 'ANKRD49', 'score': 13.53}, {'connected_gene': 'MRE11', 'score': 11.58}, {'connected_gene': 'SNORA1', 'score': 11.19}, {'connected_gene': 'CEP295', 'score': 5.57}, {'connected_gene': 'C11orf54', 'score': 4.3}, {'connected_gene': 'TAF1D', 'score': 4.16}, {'connected_gene': 'GC11P093545', 'score': 0.77}, {'connected_gene': 'PIR55384', 'score': 0.44}]
chr11	GH11I093527	93527875	93533557	1.45	[{'connected_gene': 'SMCO4', 'score': 19.2}, {'connected_gene': 'CEP295', 'score': 10.85}, {'connected_gene': 'MED17', 'score': 10.75}, {'connected_gene': 'C11orf54', 'score': 4.53}, {'connected_gene': 'SLC36A4', 'score': 1.19}, {'connected_gene': 'SRP14P2', 'score': 0.77}, {'connected_gene': 'GC11M093639', 'score': 0.18}]
chr11	GH11I093536	93536001	93539199	1.13	[{'connected_gene': 'SMCO4', 'score': 9.91}, {'connected_gene': 'C11orf54', 'score': 5.18}, {'connected_gene': 'MTNR1B', 'score': 4.44}, {'connected_gene': 'PIR55384', 'score': 0.77}, {'connected_gene': 'GC11P093545', 'score': 0.44}]
chr11	GH11I093498	93498575	93499344	0.6	[{'connected_gene': 'SMCO4', 'score': 5.32}, {'connected_gene': 'C11orf54', 'score': 4.99}, {'connected_gene': 'SRP14P2', 'score': 0.28}, {'connected_gene': 'GC11M093639', 'score': 0.25}]
chr11	GH11I093587	93587955	93588104	0.7	[{'connected_gene': 'SMCO4', 'score': 550.77}, {'connected_gene': 'ENSG00000279454', 'score': 550.77}, {'connected_gene': 'C11orf54', 'score': 9.23}, {'connected_gene': 'ENSG00000278953', 'score': 0.77}]
chr11	GH11I094120	94119367	94121653	0.43	[{'connected_gene': 'HEPHL1', 'score': 17.58}, {'connected_gene': 'C11orf54', 'score': 4.25}, {'connected_gene': 'PIR40339', 'score': 0.77}, {'connected_gene': 'GC11P094117', 'score': 0.77}]
chr11	GH11I093743	93743317	93746545	1.01	[{'connected_gene': 'C11orf54', 'score': 64.88}, {'connected_gene': 'CEP295', 'score': 5.8}, {'connected_gene': 'GC11P093749', 'score': 0.77}, {'connected_gene': 'PIR37895', 'score': 0.77}, {'connected_gene': 'ENSG00000284057', 'score': 0.77}, {'connected_gene': 'TAF1D', 'score': 0.28}]
chr11	GH11I093733	93733364	93743306	2.26	[{'connected_gene': 'C11orf54', 'score': 578.7}, {'connected_gene': 'TAF1D', 'score': 561.5}, {'connected_gene': 'MED17', 'score': 98.05}, {'connected_gene': 'ANKRD49', 'score': 61.44}, {'connected_gene': 'CEP295', 'score': 46.02}, {'connected_gene': 'MRE11', 'score': 43.64}, {'connected_gene': 'SNORA1', 'score': 34.88}, {'connected_gene': 'ENSG00000255445', 'score': 10.68}, {'connected_gene': 'SMCO4', 'score': 5.94}, {'connected_gene': 'GC11M093815', 'score': 0.77}, {'connected_gene': 'GC11P093740', 'score': 0.77}, {'connected_gene': 'MIR1304', 'score': 0.77}, {'connected_gene': 'SNORA40', 'score': 0.77}, {'connected_gene': 'SNORA18', 'score': 0.77}, {'connected_gene': 'GC11M093828', 'score': 0.77}, {'connected_gene': 'PIR37895', 'score': 0.77}, {'connected_gene': 'ENSG00000284057', 'score': 0.77}, {'connected_gene': 'GC11M093819', 'score': 0.77}, {'connected_gene': 'GC11M093824', 'score': 0.77}]
chr11	GH11I093497	93497800	93498000	0.51	[{'connected_gene': 'C11orf54', 'score': 5.37}, {'connected_gene': 'SRP14P2', 'score': 0.28}, {'connected_gene': 'GC11M093639', 'score': 0.25}, {'connected_gene': 'SMCO4', 'score': 0.17}]
chr11	GH11I093814	93814283	93816201	0.31	[{'connected_gene': 'C11orf54', 'score': 13.93}, {'connected_gene': 'VSTM5', 'score': 12.01}, {'connected_gene': 'MED17', 'score': 10.79}, {'connected_gene': 'TAF1D', 'score': 10.79}, {'connected_gene': 'GC11P093800', 'score': 0.39}, {'connected_gene': 'GC11P093828', 'score': 0.39}]
chr11	GH11I093817	93817219	93817988	0.2	[{'connected_gene': 'C11orf54', 'score': 42.91}, {'connected_gene': 'VSTM5', 'score': 12.02}, {'connected_gene': 'MED17', 'score': 10.75}, {'connected_gene': 'TAF1D', 'score': 10.75}, {'connected_gene': 'GC11P093828', 'score': 0.39}, {'connected_gene': 'GC11P093800', 'score': 0.37}]
chr11	GH11I093746	93746648	93748027	0.56	[{'connected_gene': 'GC11P093749', 'score': 550.77}, {'connected_gene': 'GC11P093748', 'score': 550.77}, {'connected_gene': 'C11orf54', 'score': 64.02}, {'connected_gene': 'CEP295', 'score': 5.85}, {'connected_gene': 'PIR37895', 'score': 0.44}, {'connected_gene': 'ENSG00000284057', 'score': 0.44}, {'connected_gene': 'TAF1D', 'score': 0.28}]
chr11	GH11I093654	93654866	93655828	0.66	[{'connected_gene': 'GC11P093655', 'score': 550.77}, {'connected_gene': 'C11orf54', 'score': 11.09}, {'connected_gene': 'TAF1D', 'score': 11.05}, {'connected_gene': 'MED17', 'score': 9.3}, {'connected_gene': 'CEP295', 'score': 6.2}, {'connected_gene': 'GC11P093624', 'score': 0.29}]
chr11	GH11I093622	93622905	93623474	0.54	[{'connected_gene': 'GC11P093624', 'score': 550.77}, {'connected_gene': 'C11orf54', 'score': 4.3}, {'connected_gene': 'LOC642897', 'score': 0.39}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000528288	[[93474756, 93474894], [93480462, 93480614], [93483511, 93483610], [93486847, 93486921], [93487101, 93487203], [93488375, 93488552], [93492907, 93493024], [93494680, 93497915]]	[[93480559, 93480614], [93483511, 93483610], [93486847, 93486921], [93487101, 93487203], [93488375, 93488552], [93492907, 93493024], [93494680, 93494854]]
ENST00000531516	[[93474761, 93474894], [93475884, 93475919]]	None
ENST00000331239	[[93474807, 93474894], [93480467, 93480614], [93483511, 93483610], [93486847, 93486921], [93487101, 93487203], [93488375, 93488552], [93490481, 93490631], [93492907, 93493024], [93494680, 93496249]]	[[93480559, 93480614], [93483511, 93483610], [93486847, 93486921], [93487101, 93487203], [93488375, 93488552], [93490481, 93490631], [93492907, 93493024], [93494680, 93494854]]
ENST00000533585	[[93474822, 93474894], [93475128, 93475232], [93480462, 93480614], [93483511, 93483610], [93486847, 93486921], [93487101, 93487174]]	[[93480559, 93480614], [93483511, 93483610], [93486847, 93486921], [93487101, 93487174]]
ENST00000528099	[[93474824, 93474894], [93475128, 93475260], [93480462, 93480614], [93483511, 93483610], [93486847, 93486921], [93487101, 93487203], [93488375, 93488552], [93490481, 93490631], [93492907, 93493024], [93494680, 93495469]]	[[93480559, 93480614], [93483511, 93483610], [93486847, 93486921], [93487101, 93487203], [93488375, 93488552], [93490481, 93490631], [93492907, 93493024], [93494680, 93494854]]
ENST00000540113	[[93474834, 93474894], [93480462, 93480614], [93483511, 93483610], [93486847, 93486921], [93487101, 93487203], [93488375, 93488552], [93490481, 93490631], [93492907, 93493024], [93494680, 93495451]]	[[93483513, 93483610], [93486847, 93486921], [93487101, 93487203], [93488375, 93488552], [93490481, 93490631], [93492907, 93493024], [93494680, 93494854]]
ENST00000354421	[[93474834, 93474894], [93480462, 93480614], [93483511, 93483610], [93486847, 93486921], [93487101, 93487203], [93488375, 93488552], [93490481, 93490631], [93492907, 93493024], [93494680, 93495482]]	[[93480559, 93480614], [93483511, 93483610], [93486847, 93486921], [93487101, 93487203], [93488375, 93488552], [93490481, 93490631], [93492907, 93493024], [93494680, 93494854]]
ENST00000530620	[[93474835, 93474894], [93483511, 93483610], [93486847, 93486921], [93487101, 93487203], [93488375, 93488552], [93490481, 93490631], [93492907, 93493025]]	[[93483513, 93483610], [93486847, 93486921], [93487101, 93487203], [93488375, 93488552], [93490481, 93490631], [93492907, 93493025]]
ENST00000527003	[[93474848, 93474894], [93475128, 93475307], [93480462, 93480614], [93483511, 93483610], [93486847, 93486923]]	[[93480559, 93480614], [93483511, 93483610], [93486847, 93486923]]
ENST00000531650	[[93474851, 93474894], [93480462, 93480614], [93483511, 93483610], [93486847, 93486921], [93487101, 93487203], [93490481, 93490631], [93492907, 93492982]]	[[93480559, 93480614], [93483511, 93483610], [93486847, 93486921], [93487101, 93487203], [93490481, 93490631], [93492907, 93492982]]
ENST00000530279	[[93474853, 93474894], [93475128, 93475260], [93480467, 93480614], [93483511, 93483610], [93486847, 93486921], [93487101, 93487160]]	[[93480559, 93480614], [93483511, 93483610], [93486847, 93486921], [93487101, 93487160]]
ENST00000527363	[[93478994, 93479646], [93480467, 93480614], [93483511, 93483610], [93486847, 93486921], [93487101, 93487203], [93488375, 93488559]]	[[93480559, 93480614], [93483511, 93483610], [93486847, 93486921], [93487101, 93487203], [93488375, 93488559]]
ENST00000526335	[[93479650, 93480614], [93483511, 93483610], [93486847, 93486921], [93487101, 93487203], [93488375, 93488492]]	[[93480559, 93480614], [93483511, 93483610], [93486847, 93486921], [93487101, 93487203], [93488375, 93488492]]
ENST00000533154	[[93488038, 93488552], [93490481, 93490631], [93492907, 93493024], [93494680, 93494802]]	[[93488378, 93488552], [93490481, 93490631], [93492907, 93493024], [93494680, 93494802]]
NM_001286070	[[93474759, 93474894], [93483511, 93483610], [93486847, 93486921], [93487101, 93487203], [93488375, 93488552], [93490481, 93490631], [93492907, 93493024], [93494680, 93496268]]	[[93483513, 93483610], [93486847, 93486921], [93487101, 93487203], [93488375, 93488552], [93490481, 93490631], [93492907, 93493024], [93494680, 93494854]]
NM_001286068	[[93474759, 93474894], [93480467, 93480614], [93483511, 93483610], [93486847, 93486921], [93487101, 93487203], [93488375, 93488552], [93490481, 93490631], [93492907, 93493024], [93494680, 93496268]]	[[93480559, 93480614], [93483511, 93483610], [93486847, 93486921], [93487101, 93487203], [93488375, 93488552], [93490481, 93490631], [93492907, 93493024], [93494680, 93494854]]
NM_001286071	[[93474759, 93474894], [93480462, 93480614], [93483511, 93483610], [93486847, 93486921], [93487101, 93487203], [93490481, 93490631], [93492907, 93493024], [93494680, 93496268]]	[[93480559, 93480614], [93483511, 93483610], [93486847, 93486921], [93487101, 93487203], [93490481, 93490631], [93492907, 93493024], [93494680, 93494854]]
NM_014039	[[93474759, 93474894], [93480462, 93480614], [93483511, 93483610], [93486847, 93486921], [93487101, 93487203], [93488375, 93488552], [93492907, 93493024], [93494680, 93496268]]	[[93480559, 93480614], [93483511, 93483610], [93486847, 93486921], [93487101, 93487203], [93488375, 93488552], [93492907, 93493024], [93494680, 93494854]]
NM_001286069	[[93474759, 93474894], [93480462, 93480614], [93483511, 93483610], [93486847, 93486921], [93487101, 93487203], [93488375, 93488552], [93490481, 93490631], [93492907, 93493024], [93494680, 93496268]]	[[93480559, 93480614], [93483511, 93483610], [93486847, 93486921], [93487101, 93487203], [93488375, 93488552], [93490481, 93490631], [93492907, 93493024], [93494680, 93494854]]
NM_001286067	[[93474759, 93474894], [93475128, 93475260], [93480462, 93480614], [93483511, 93483610], [93486847, 93486921], [93487101, 93487203], [93488375, 93488552], [93490481, 93490631], [93492907, 93493024], [93494680, 93496268]]	[[93480559, 93480614], [93483511, 93483610], [93486847, 93486921], [93487101, 93487203], [93488375, 93488552], [93490481, 93490631], [93492907, 93493024], [93494680, 93494854]]