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
ENST00000525141	[[93211637, 93212450], [93232441, 93232517]]	[[93212175, 93212355]]
ENST00000298966	[[93211637, 93212435], [93232441, 93232514], [93276441, 93276674]]	[[93212175, 93212355]]
ENST00000527149	[[93212106, 93212435], [93232441, 93232514], [93271011, 93271081]]	[[93212175, 93212355]]
ENST00000529714	[[93212199, 93212450], [93232441, 93232514], [93256502, 93256533]]	[[93212199, 93212355]]
ENST00000526869	[[93212214, 93212435], [93232441, 93232514], [93276441, 93276521]]	[[93212214, 93212355]]
NM_020179	[[93211637, 93212435], [93232441, 93232514], [93276441, 93276546]]	[[93212175, 93212355]]

Promoter

Chrom	Start	End	Description
chr11	93271058	93271084	CAGE_peak_5_at_C11orf75_5end
chr11	93276475	93276505	CAGE_peak_1_at_C11orf75_5end
chr11	93276514	93276543	CAGE_peak_3_at_C11orf75_5end
chr11	93276548	93276565	CAGE_peak_2_at_C11orf75_5end
chr11	93276582	93276597	CAGE_peak_4_at_C11orf75_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
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	GH11I093586	93586000	93586201	0.57	[{'connected_gene': 'SMCO4', 'score': 550.77}, {'connected_gene': 'ENSG00000279454', 'score': 550.77}, {'connected_gene': 'TAF1D', 'score': 4.88}, {'connected_gene': 'GC11M093574', 'score': 0.37}, {'connected_gene': 'PIR62997', 'score': 0.37}]
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	GH11I093523	93523002	93527416	1.52	[{'connected_gene': 'SMCO4', 'score': 27.21}, {'connected_gene': 'SLC36A4', 'score': 5.31}, {'connected_gene': 'GPR83', 'score': 4.32}, {'connected_gene': 'DEUP1', 'score': 1.24}, {'connected_gene': 'MED17', 'score': 1.18}, {'connected_gene': 'SRP14P2', 'score': 0.39}, {'connected_gene': 'GC11M093639', 'score': 0.18}]
chr11	GH11I093515	93515524	93516000	0.76	[{'connected_gene': 'SMCO4', 'score': 25.1}, {'connected_gene': 'SLC36A4', 'score': 4.22}, {'connected_gene': 'SRP14P2', 'score': 0.37}, {'connected_gene': 'GC11M093639', 'score': 0.2}]
chr11	GH11I093520	93520759	93521079	0.5	[{'connected_gene': 'SMCO4', 'score': 6.8}, {'connected_gene': 'SLC36A4', 'score': 4.49}, {'connected_gene': 'SRP14P2', 'score': 0.39}, {'connected_gene': 'GC11M093639', 'score': 0.19}]
chr11	GH11I093499	93498275	93498424	0.4	[{'connected_gene': 'SMCO4', 'score': 25.68}, {'connected_gene': 'SRP14P2', 'score': 0.28}, {'connected_gene': 'GC11M093639', 'score': 0.25}]
chr11	GH11I093476	93476446	93479156	0.74	[{'connected_gene': 'SMCO4', 'score': 25.43}, {'connected_gene': 'GC11M093639', 'score': 0.31}, {'connected_gene': 'SRP14P2', 'score': 0.22}]
chr11	GH11I093493	93493107	93493788	0.75	[{'connected_gene': 'SMCO4', 'score': 10.25}, {'connected_gene': 'GC11M093639', 'score': 0.26}, {'connected_gene': 'SRP14P2', 'score': 0.26}]
chr11	GH11I093481	93481079	93482892	0.49	[{'connected_gene': 'SMCO4', 'score': 25.43}, {'connected_gene': 'GC11M093639', 'score': 0.29}, {'connected_gene': 'SRP14P2', 'score': 0.23}]
chr11	GH11I093496	93496350	93496987	0.31	[{'connected_gene': 'SMCO4', 'score': 6.59}, {'connected_gene': 'SRP14P2', 'score': 0.28}, {'connected_gene': 'GC11M093639', 'score': 0.25}]
chr11	GH11I093570	93570319	93571499	1.14	[{'connected_gene': 'SMCO4', 'score': 6.99}, {'connected_gene': 'GC11M093574', 'score': 0.77}, {'connected_gene': 'PIR62997', 'score': 0.77}]
chr11	GH11I093480	93480171	93480860	0.31	[{'connected_gene': 'SMCO4', 'score': 12.28}, {'connected_gene': 'GC11M093639', 'score': 0.29}, {'connected_gene': 'SRP14P2', 'score': 0.23}]
chr11	GH11I093489	93489874	93492246	0.66	[{'connected_gene': 'SMCO4', 'score': 10.23}, {'connected_gene': 'GC11M093639', 'score': 0.26}, {'connected_gene': 'SRP14P2', 'score': 0.26}]
chr11	GH11I093492	93492514	93492991	0.69	[{'connected_gene': 'SMCO4', 'score': 10.25}, {'connected_gene': 'GC11M093639', 'score': 0.26}, {'connected_gene': 'SRP14P2', 'score': 0.26}]
chr11	GH11I093503	93503466	93503813	0.2	[{'connected_gene': 'SMCO4', 'score': 25.4}, {'connected_gene': 'SRP14P2', 'score': 0.29}, {'connected_gene': 'GC11M093639', 'score': 0.23}]
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	GH11I093085	93085209	93085348	0.52	[{'connected_gene': 'SLC36A4', 'score': 6.62}, {'connected_gene': 'SMCO4', 'score': 1.71}, {'connected_gene': 'ENSG00000278892', 'score': 0.39}, {'connected_gene': 'ENSG00000279304', 'score': 0.25}]
chr11	GH11I093567	93567655	93567804	0.63	[{'connected_gene': 'GC11M093574', 'score': 550.77}, {'connected_gene': 'PIR62997', 'score': 550.77}, {'connected_gene': 'CEP295', 'score': 4.78}, {'connected_gene': 'MTNR1B', 'score': 4.59}, {'connected_gene': 'SMCO4', 'score': 0.37}]
chr11	GH11I093521	93521201	93521400	0.52	[{'connected_gene': 'SRP14P2', 'score': 0.39}, {'connected_gene': 'SMCO4', 'score': 0.2}, {'connected_gene': 'GC11M093639', 'score': 0.19}]
chr11	GH11I093588	93588905	93589761	0.2	[{'connected_gene': 'ENSG00000279454', 'score': 550.77}, {'connected_gene': 'SMCO4', 'score': 7.86}, {'connected_gene': 'ENSG00000278953', 'score': 0.77}]
chr11	GH11I093535	93535601	93535800	0.51	[{'connected_gene': 'PIR55384', 'score': 550.77}, {'connected_gene': 'SRP14P2', 'score': 550.77}, {'connected_gene': 'GC11P093545', 'score': 0.44}, {'connected_gene': 'SMCO4', 'score': 0.23}]
chr11	GH11I093540	93540201	93540600	0.58	[{'connected_gene': 'GC11P093545', 'score': 0.77}, {'connected_gene': 'PIR55384', 'score': 0.77}, {'connected_gene': 'SMCO4', 'score': 0.25}]
chr11	GH11I093504	93504598	93505273	0.54	[{'connected_gene': 'SRP14P2', 'score': 0.29}, {'connected_gene': 'GC11M093639', 'score': 0.22}, {'connected_gene': 'SMCO4', 'score': 0.18}]
chr11	GH11I093487	93487275	93487304	1.13	[{'connected_gene': 'GC11M093639', 'score': 0.28}, {'connected_gene': 'SRP14P2', 'score': 0.25}, {'connected_gene': 'SMCO4', 'score': 0.15}]
chr11	GH11I093547	93547135	93547284	0.2	[{'connected_gene': 'GC11P093545', 'score': 0.77}, {'connected_gene': 'RN7SL223P', 'score': 0.44}, {'connected_gene': 'SMCO4', 'score': 0.28}]