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
ENST00000490003	[[42734154, 42734367], [42734568, 42734942]]	None
ENST00000466007	[[42734154, 42734367], [42734568, 42734710], [42735108, 42735455]]	None
ENST00000426666	[[42734154, 42734367], [42734568, 42734681], [42738333, 42738369], [42738492, 42738591]]	[[42734242, 42734367], [42734568, 42734681], [42738333, 42738369], [42738492, 42738591]]
ENST00000310417	[[42734154, 42734367], [42734568, 42734710], [42735108, 42735310], [42738333, 42738369], [42738492, 42738637], [42738999, 42739171], [42739633, 42739843], [42740199, 42740394], [42740523, 42740637], [42741249, 42741317], [42742212, 42742331], [42742603, 42742682], [42742958, 42743013]]	[[42734242, 42734367], [42734568, 42734710], [42735108, 42735310], [42738333, 42738369], [42738492, 42738637], [42738999, 42739171], [42739633, 42739843], [42740199, 42740394], [42740523, 42740637], [42741249, 42741317], [42742212, 42742318]]
ENST00000441594	[[42734154, 42734367], [42734568, 42734710], [42735108, 42735310], [42738333, 42738369], [42738492, 42738637], [42738999, 42739171], [42739633, 42739843], [42740199, 42740394], [42740523, 42740637], [42741249, 42741317], [42742212, 42742331], [42744070, 42744319]]	[[42734242, 42734367], [42734568, 42734710], [42735108, 42735310], [42738333, 42738369], [42738492, 42738637], [42738999, 42739171], [42739633, 42739843], [42740199, 42740394], [42740523, 42740637], [42741249, 42741317], [42742212, 42742318]]
ENST00000480939	[[42734591, 42734710], [42735108, 42735693]]	None
ENST00000457462	[[42738524, 42738637], [42738999, 42739171], [42739633, 42739843], [42740523, 42740637], [42741249, 42741317], [42742212, 42742331], [42744070, 42744270]]	[[42738524, 42738637], [42738999, 42739171], [42739633, 42739843], [42740523, 42740637], [42741249, 42741317], [42742212, 42742318]]
ENST00000416756	[[42739632, 42739843], [42740199, 42740394], [42740523, 42740637], [42741249, 42741317], [42742212, 42742331], [42744108, 42744316]]	[[42739632, 42739843], [42740199, 42740394], [42740523, 42740637], [42741249, 42741317], [42742212, 42742318]]
ENST00000455195	[[42739715, 42739843], [42740199, 42740394], [42740523, 42740637], [42741249, 42741317], [42742212, 42742331], [42742623, 42742689]]	[[42739715, 42739843], [42740199, 42740394], [42740523, 42740637], [42741249, 42741317], [42742212, 42742318]]
ENST00000417472	[[42739782, 42739843], [42740523, 42740637], [42741249, 42741317], [42742212, 42742331], [42742623, 42742682], [42744070, 42744136]]	[[42739782, 42739843], [42740523, 42740637], [42741249, 42741317], [42742212, 42742318]]
ENST00000442469	[[42740329, 42740394], [42740523, 42740637], [42741249, 42741317], [42742212, 42742331], [42742623, 42742682], [42744070, 42744136]]	[[42740329, 42740394], [42740523, 42740637], [42741249, 42741317], [42742212, 42742318]]
ENST00000497000	[[42740544, 42740637], [42741249, 42741317], [42742212, 42742331], [42742603, 42743013]]	None
NR_027753	[[42734154, 42734367], [42734568, 42734710], [42735108, 42735310], [42738333, 42738369], [42738492, 42738637], [42738999, 42739171], [42739633, 42739843], [42740199, 42740394], [42740523, 42740637], [42741249, 42741317], [42742212, 42742331], [42742603, 42742682], [42742958, 42743013]]	None
NM_020707	[[42734154, 42734367], [42734568, 42734710], [42735108, 42735310], [42738333, 42738369], [42738492, 42738637], [42738999, 42739171], [42739633, 42739843], [42740199, 42740394], [42740523, 42740637], [42741249, 42741317], [42742212, 42742331], [42744070, 42744319]]	[[42734242, 42734367], [42734568, 42734710], [42735108, 42735310], [42738333, 42738369], [42738492, 42738637], [42738999, 42739171], [42739633, 42739843], [42740199, 42740394], [42740523, 42740637], [42741249, 42741317], [42742212, 42742318]]

Promoter

Chrom	Start	End	Description
chr3	42742971	42742982	CAGE_peak_6_at_HHATL_5end
chr3	42742994	42743001	CAGE_peak_7_at_HHATL_5end
chr3	42743006	42743019	CAGE_peak_5_at_HHATL_5end
chr3	42744130	42744141	CAGE_peak_4_at_HHATL_5end
chr3	42744146	42744193	CAGE_peak_1_at_HHATL_5end
chr3	42744283	42744298	CAGE_peak_2_at_HHATL_5end
chr3	42744312	42744327	CAGE_peak_3_at_HHATL_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I042650	42650606	42657050	2.42	[{'connected_gene': 'ZBTB47', 'score': 550.77}, {'connected_gene': 'LOC101928323', 'score': 550.77}, {'connected_gene': 'NKTR', 'score': 47.44}, {'connected_gene': 'SEC22C', 'score': 40.21}, {'connected_gene': 'SNRK-AS1', 'score': 12.19}, {'connected_gene': 'SS18L2', 'score': 10.62}, {'connected_gene': 'HHATL', 'score': 2.14}, {'connected_gene': 'FAM198A', 'score': 1.58}]
chr3	GH03I042368	42368513	42370065	0.66	[{'connected_gene': 'CCK', 'score': 19.88}, {'connected_gene': 'LYZL4', 'score': 11.31}, {'connected_gene': 'HHATL', 'score': 1.9}, {'connected_gene': 'TRAK1', 'score': 1.9}, {'connected_gene': 'EIF4BP4', 'score': 0.31}]
chr3	GH03I042727	42725593	42725750	0.45	[{'connected_gene': 'HHATL', 'score': 9.81}, {'connected_gene': 'FAM198A', 'score': 3.15}, {'connected_gene': 'ZNF662', 'score': 1.81}, {'connected_gene': 'CCK', 'score': 1.31}, {'connected_gene': 'CCDC13-AS1', 'score': 0.44}, {'connected_gene': 'CCDC13', 'score': 0.25}]
chr3	GH03I042746	42746181	42747400	0.83	[{'connected_gene': 'HHATL', 'score': 7.25}, {'connected_gene': 'CCDC13-AS1', 'score': 0.39}, {'connected_gene': 'LINC02158', 'score': 0.34}, {'connected_gene': 'CCDC13', 'score': 0.31}]
chr3	GH03I042695	42695270	42695864	0.47	[{'connected_gene': 'HHATL', 'score': 19.42}, {'connected_gene': 'CCDC13-AS1', 'score': 17.79}, {'connected_gene': 'CCDC13', 'score': 10.25}, {'connected_gene': 'FAM198A', 'score': 2.98}, {'connected_gene': 'ZNF662', 'score': 2.54}, {'connected_gene': 'KLHL40', 'score': 1.92}, {'connected_gene': 'HHATL-AS1', 'score': 0.44}]
chr3	GH03I042700	42700958	42703464	1.77	[{'connected_gene': 'HHATL', 'score': 559.4}, {'connected_gene': 'HHATL-AS1', 'score': 550.77}, {'connected_gene': 'NKTR', 'score': 19.79}, {'connected_gene': 'ZNF662', 'score': 16.59}, {'connected_gene': 'SNRK-AS1', 'score': 10.47}, {'connected_gene': 'KLHL40', 'score': 0.37}, {'connected_gene': 'CCDC13', 'score': 0.19}]
chr3	GH03I042724	42724043	42724624	0.2	[{'connected_gene': 'HHATL', 'score': 11.96}, {'connected_gene': 'HHATL-AS1', 'score': 11.96}, {'connected_gene': 'CCDC13-AS1', 'score': 0.44}, {'connected_gene': 'CCDC13', 'score': 0.25}]
chr3	GH03I042744	42744201	42744800	1.13	[{'connected_gene': 'CCDC13', 'score': 11.08}, {'connected_gene': 'LINC02158', 'score': 11.08}, {'connected_gene': 'HHATL', 'score': 7.71}, {'connected_gene': 'CCDC13-AS1', 'score': 0.39}]
chr3	GH03I042689	42689916	42694645	0.38	[{'connected_gene': 'CCDC13', 'score': 21.25}, {'connected_gene': 'CCDC13-AS1', 'score': 18.17}, {'connected_gene': 'HHATL', 'score': 7.18}, {'connected_gene': 'NKTR', 'score': 5.22}, {'connected_gene': 'HIGD1A', 'score': 4.45}, {'connected_gene': 'KLHL40', 'score': 0.44}, {'connected_gene': 'HHATL-AS1', 'score': 0.39}]
chr3	GH03I042711	42711085	42714950	0.43	[{'connected_gene': 'CCDC13', 'score': 16.37}, {'connected_gene': 'CCDC13-AS1', 'score': 14.49}, {'connected_gene': 'HHATL', 'score': 7.62}]
chr3	GH03I042682	42682661	42687616	1.98	[{'connected_gene': 'KLHL40', 'score': 550.77}, {'connected_gene': 'SEC22C', 'score': 24.82}, {'connected_gene': 'HHATL', 'score': 7.0}, {'connected_gene': 'LYZL4', 'score': 6.86}, {'connected_gene': 'NKTR', 'score': 6.61}, {'connected_gene': 'CCDC13', 'score': 5.45}, {'connected_gene': 'CCK', 'score': 4.28}, {'connected_gene': 'KRBOX1', 'score': 3.4}, {'connected_gene': 'RN7SL567P', 'score': 0.44}]
chr3	GH03I042732	42732082	42734358	1.07	[{'connected_gene': 'CCDC13-AS1', 'score': 572.23}, {'connected_gene': 'HHATL', 'score': 7.48}, {'connected_gene': 'LINC02158', 'score': 0.28}, {'connected_gene': 'CCDC13', 'score': 0.26}]
chr3	GH03I042739	42739285	42740786	1.14	[{'connected_gene': 'CCDC13-AS1', 'score': 21.63}, {'connected_gene': 'HHATL', 'score': 7.63}, {'connected_gene': 'CCDC13', 'score': 0.29}, {'connected_gene': 'LINC02158', 'score': 0.29}]
chr3	GH03I042733	42730745	42731464	0.43	[{'connected_gene': 'CCDC13-AS1', 'score': 572.63}, {'connected_gene': 'HHATL', 'score': 0.31}, {'connected_gene': 'CCDC13', 'score': 0.26}]
chr3	GH03I042731	42730361	42730506	0.63	[{'connected_gene': 'CCDC13-AS1', 'score': 0.77}, {'connected_gene': 'HHATL', 'score': 0.31}, {'connected_gene': 'CCDC13', 'score': 0.26}]
chr3	GH03I042718	42718452	42719926	0.2	[{'connected_gene': 'CCDC13-AS1', 'score': 13.81}, {'connected_gene': 'HHATL', 'score': 0.37}, {'connected_gene': 'CCDC13', 'score': 0.23}]
chr3	GH03I042729	42729460	42729920	0.2	[{'connected_gene': 'CCDC13-AS1', 'score': 0.77}, {'connected_gene': 'HHATL', 'score': 0.31}, {'connected_gene': 'CCDC13', 'score': 0.26}]
chr3	GH03I042730	42729968	42730228	0.2	[{'connected_gene': 'CCDC13-AS1', 'score': 0.77}, {'connected_gene': 'HHATL', 'score': 0.31}, {'connected_gene': 'CCDC13', 'score': 0.26}]
chr3	GH03I042725	42725057	42725457	0.2	[{'connected_gene': 'CCDC13-AS1', 'score': 21.85}, {'connected_gene': 'HHATL', 'score': 0.34}, {'connected_gene': 'CCDC13', 'score': 0.25}]
chr3	GH03I042726	42726246	42726645	0.2	[{'connected_gene': 'CCDC13-AS1', 'score': 21.85}, {'connected_gene': 'HHATL', 'score': 0.34}, {'connected_gene': 'CCDC13', 'score': 0.25}]
chr3	GH03I042722	42722989	42723936	0.2	[{'connected_gene': 'CCDC13-AS1', 'score': 14.56}, {'connected_gene': 'HHATL', 'score': 11.96}, {'connected_gene': 'HHATL-AS1', 'score': 11.96}, {'connected_gene': 'CCDC13', 'score': 4.26}]
chr3	GH03I042734	42734569	42737051	0.43	[{'connected_gene': 'CCDC13-AS1', 'score': 15.43}, {'connected_gene': 'CCDC13', 'score': 14.04}, {'connected_gene': 'SEC22C', 'score': 9.63}, {'connected_gene': 'HHATL', 'score': 7.35}, {'connected_gene': 'LINC02158', 'score': 0.29}]