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
ENST00000282268	[[82373316, 82373481], [82400728, 82400877], [82406846, 82407022], [82491588, 82491755], [82499370, 82499526], [82500633, 82500740], [82554348, 82554496], [82648949, 82649577]]	[[82400738, 82400877], [82406846, 82407022], [82491588, 82491755], [82499370, 82499526], [82500633, 82500740], [82554348, 82554496], [82648949, 82649061]]
ENST00000338635	[[82373345, 82373434], [82400728, 82400877], [82406846, 82407022], [82491588, 82491755], [82499370, 82499526], [82500633, 82500740], [82554348, 82554496], [82648943, 82649530]]	[[82400738, 82400877], [82406846, 82407022], [82491588, 82491755], [82499370, 82499526], [82500633, 82500740], [82554348, 82554496], [82648943, 82649061]]
ENST00000542685	[[82373375, 82373434], [82400728, 82400877], [82406846, 82407022], [82491588, 82491755], [82499370, 82499526], [82500633, 82500740], [82554348, 82554496], [82606607, 82606888]]	None
ENST00000396027	[[82373388, 82373434], [82400728, 82400877], [82406846, 82407022], [82491588, 82491755], [82499370, 82499526], [82500633, 82500740], [82554348, 82554496], [82648949, 82649530]]	[[82400738, 82400877], [82406846, 82407022], [82491588, 82491755], [82499370, 82499526], [82500633, 82500740], [82554348, 82554496], [82648949, 82649061]]
ENST00000511817	[[82373411, 82373481], [82400728, 82400877], [82406846, 82407022], [82491588, 82491755], [82499370, 82499526], [82500633, 82500740], [82554348, 82554496], [82648943, 82649606]]	[[82400738, 82400877], [82406846, 82407022], [82491588, 82491755], [82499370, 82499526], [82500633, 82500740], [82554348, 82554496], [82648943, 82649061]]
ENST00000509268	[[82400726, 82400877], [82406846, 82407022], [82491588, 82491755], [82499370, 82499526], [82500633, 82500740], [82554348, 82555158]]	None
NM_001318013	[[82373227, 82373434], [82400728, 82400877], [82406846, 82407022], [82491588, 82491755], [82499370, 82499526], [82500633, 82500740], [82554348, 82554496], [82606607, 82606888]]	[[82400738, 82400877], [82406846, 82407022], [82491588, 82491755], [82499370, 82499526], [82500633, 82500740], [82554348, 82554496], [82606607, 82606647]]
NM_003401	[[82373227, 82373434], [82400728, 82400877], [82406846, 82407022], [82491588, 82491755], [82499370, 82499526], [82500633, 82500740], [82554348, 82554496], [82648949, 82649579]]	[[82400738, 82400877], [82406846, 82407022], [82491588, 82491755], [82499370, 82499526], [82500633, 82500740], [82554348, 82554496], [82648949, 82649061]]
NM_022406	[[82373227, 82373434], [82400728, 82400877], [82406846, 82407022], [82491588, 82491755], [82499370, 82499526], [82500633, 82500740], [82554348, 82554496], [82648943, 82649579]]	[[82400738, 82400877], [82406846, 82407022], [82491588, 82491755], [82499370, 82499526], [82500633, 82500740], [82554348, 82554496], [82648943, 82649061]]
NM_022550	[[82373227, 82373481], [82400728, 82400877], [82406846, 82407022], [82491588, 82491755], [82499370, 82499526], [82500633, 82500740], [82554348, 82554496], [82648949, 82649579]]	[[82400738, 82400877], [82406846, 82407022], [82491588, 82491755], [82499370, 82499526], [82500633, 82500740], [82554348, 82554496], [82648949, 82649061]]
NM_001318012	[[82373227, 82373481], [82400728, 82400877], [82406846, 82407022], [82491588, 82491755], [82499370, 82499526], [82500633, 82500740], [82554348, 82554496], [82648943, 82649579]]	[[82400738, 82400877], [82406846, 82407022], [82491588, 82491755], [82499370, 82499526], [82500633, 82500740], [82554348, 82554496], [82648943, 82649061]]

Promoter

Chrom	Start	End	Description
chr5	82373353	82373375	CAGE_peak_2_at_XRCC4_5end
chr5	82373379	82373444	CAGE_peak_1_at_XRCC4_5end
chr5	82502040	82502052	CAGE_peak_5_at_XRCC4_5end
chr5	82502075	82502091	CAGE_peak_7_at_XRCC4_5end
chr5	82502101	82502118	CAGE_peak_4_at_XRCC4_5end
chr5	82502142	82502143	CAGE_peak_9_at_XRCC4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr5	GH05I083095	83095277	83099087	1.67	[{'connected_gene': 'XRCC4', 'score': 578.58}, {'connected_gene': 'ATP6AP1L', 'score': 20.26}, {'connected_gene': 'RPS23', 'score': 11.63}, {'connected_gene': 'SCARNA18', 'score': 10.39}, {'connected_gene': 'LOC105379052', 'score': 6.81}, {'connected_gene': 'TMEM167A', 'score': 0.37}, {'connected_gene': 'RPL13P9', 'score': 0.15}]
chr5	GH05I083076	83076000	83078867	2.03	[{'connected_gene': 'XRCC4', 'score': 559.15}, {'connected_gene': 'TMEM167A', 'score': 550.77}, {'connected_gene': 'LOC105379052', 'score': 30.54}]
chr5	GH05I083124	83124722	83124871	0.9	[{'connected_gene': 'XRCC4', 'score': 0.25}, {'connected_gene': 'TMEM167A', 'score': 0.25}, {'connected_gene': 'RPL13P9', 'score': 0.18}]
chr5	GH05I083103	83103748	83104693	0.38	[{'connected_gene': 'XRCC4', 'score': 0.31}, {'connected_gene': 'TMEM167A', 'score': 0.31}, {'connected_gene': 'RPL13P9', 'score': 0.15}]
chr5	GH05I083156	83156801	83157422	0.47	[{'connected_gene': 'XRCC4', 'score': 33.67}, {'connected_gene': 'VCAN', 'score': 4.95}, {'connected_gene': 'TMEM167A', 'score': 1.83}, {'connected_gene': 'RPL13P9', 'score': 0.26}]
chr5	GH05I083340	83340616	83340675	0.56	[{'connected_gene': 'XRCC4', 'score': 2.02}, {'connected_gene': 'VCAN', 'score': 1.25}, {'connected_gene': 'GC05P083318', 'score': 0.34}, {'connected_gene': 'LOC105379053', 'score': 0.25}]
chr5	GH05I083145	83145257	83146740	0.31	[{'connected_gene': 'XRCC4', 'score': 33.68}, {'connected_gene': 'RPL13P9', 'score': 0.22}, {'connected_gene': 'TMEM167A', 'score': 0.2}]
chr5	GH05I083312	83312582	83313400	0.6	[{'connected_gene': 'VCAN', 'score': 10.16}, {'connected_gene': 'XRCC4', 'score': 2.63}, {'connected_gene': 'TMEM167A', 'score': 1.76}, {'connected_gene': 'GC05P083318', 'score': 0.44}, {'connected_gene': 'GC05M083273', 'score': 0.31}]
chr5	GH05I083511	83511261	83511592	0.49	[{'connected_gene': 'VCAN', 'score': 3.25}, {'connected_gene': 'XRCC4', 'score': 1.36}, {'connected_gene': 'VCAN-AS1', 'score': 0.2}]
chr5	GH05I083368	83368024	83369600	1.28	[{'connected_gene': 'VCAN', 'score': 15.72}, {'connected_gene': 'TMEM167A', 'score': 2.25}, {'connected_gene': 'XRCC4', 'score': 2.08}, {'connected_gene': 'LOC105379053', 'score': 0.37}, {'connected_gene': 'GC05P083318', 'score': 0.23}]
chr5	GH05I083376	83376312	83378615	1.09	[{'connected_gene': 'VCAN', 'score': 11.39}, {'connected_gene': 'TMEM167A', 'score': 1.48}, {'connected_gene': 'XRCC4', 'score': 1.25}, {'connected_gene': 'LOC105379053', 'score': 0.39}, {'connected_gene': 'GC05P083318', 'score': 0.22}]
chr5	GH05I083306	83306262	83307690	1.23	[{'connected_gene': 'VCAN', 'score': 13.13}, {'connected_gene': 'LOC105379052', 'score': 4.27}, {'connected_gene': 'TMEM167A', 'score': 1.87}, {'connected_gene': 'XRCC4', 'score': 1.85}, {'connected_gene': 'GC05P083318', 'score': 0.39}, {'connected_gene': 'GC05M083273', 'score': 0.34}]
chr5	GH05I083280	83280652	83280869	0.25	[{'connected_gene': 'COQ10BP2', 'score': 550.77}, {'connected_gene': 'GC05M083273', 'score': 0.77}, {'connected_gene': 'XRCC4', 'score': 0.08}]
chr5	GH05I083281	83281782	83281831	0.38	[{'connected_gene': 'COQ10BP2', 'score': 550.77}, {'connected_gene': 'GC05M083273', 'score': 0.77}, {'connected_gene': 'XRCC4', 'score': 0.08}]
chr5	GH05I083225	83225601	83225619	0.22	[{'connected_gene': 'RPL13P9', 'score': 0.34}, {'connected_gene': 'COQ10BP2', 'score': 0.22}, {'connected_gene': 'XRCC4', 'score': 0.11}]
chr5	GH05I083322	83321800	83322001	0.38	[{'connected_gene': 'GC05P083318', 'score': 0.77}, {'connected_gene': 'LOC105379053', 'score': 0.2}, {'connected_gene': 'XRCC4', 'score': 0.07}]
chr5	GH05I083321	83321082	83321231	0.43	[{'connected_gene': 'GC05P083318', 'score': 0.77}, {'connected_gene': 'LOC105379053', 'score': 0.2}, {'connected_gene': 'XRCC4', 'score': 0.07}]