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
ENST00000412615	[[112563304, 112563422], [112568314, 112568373], [112572541, 112572677], [112572816, 112572870], [112578622, 112579028], [112579892, 112580099], [112583389, 112583466], [112585877, 112586108], [112587554, 112587675], [112589604, 112589944], [112590230, 112590303], [112590538, 112591403]]	[[112568326, 112568373], [112572541, 112572677], [112572816, 112572870], [112578622, 112579028], [112579892, 112580099], [112583389, 112583466], [112585877, 112586108], [112587554, 112587675], [112589604, 112589944], [112590230, 112590303], [112590538, 112590595]]
ENST00000257604	[[112563348, 112563953], [112568314, 112568373], [112572541, 112572677], [112572816, 112572870], [112578622, 112579028], [112579892, 112580099], [112583389, 112583466], [112585877, 112586108], [112587554, 112587675], [112589604, 112589944], [112590230, 112590303], [112590538, 112591407]]	[[112568326, 112568373], [112572541, 112572677], [112572816, 112572870], [112578622, 112579028], [112579892, 112580099], [112583389, 112583466], [112585877, 112586108], [112587554, 112587675], [112589604, 112589944], [112590230, 112590303], [112590538, 112590595]]
ENST00000550051	[[112563341, 112563422], [112568314, 112568373], [112572541, 112572677], [112572816, 112572870], [112578622, 112579295]]	None
ENST00000549358	[[112563348, 112563422], [112568273, 112568373], [112572541, 112572677], [112572816, 112572870], [112578622, 112578790]]	[[112568326, 112568373], [112572541, 112572677], [112572816, 112572870], [112578622, 112578790]]
ENST00000547063	[[112563357, 112563422], [112568314, 112568373], [112572541, 112572677], [112572816, 112572870], [112577922, 112578009], [112578622, 112579028], [112579892, 112579952]]	[[112568326, 112568373], [112572541, 112572677], [112572816, 112572870], [112577922, 112577970]]
ENST00000548092	[[112563360, 112563422], [112568314, 112568373], [112570943, 112571124], [112572541, 112572677], [112572816, 112572870], [112578622, 112578714]]	[[112572605, 112572677], [112572816, 112572870], [112578622, 112578714]]
ENST00000552890	[[112563363, 112563422], [112568314, 112568373], [112572541, 112572677], [112572816, 112572870], [112578622, 112578784], [112579892, 112580099], [112583389, 112583466], [112585877, 112586108], [112587554, 112587612]]	[[112568326, 112568373], [112572541, 112572677], [112572816, 112572870], [112578622, 112578784], [112579892, 112579988]]
ENST00000552896	[[112563366, 112563422], [112563888, 112563953], [112568314, 112568373], [112572541, 112572677], [112572816, 112572870], [112578622, 112579028], [112579892, 112580099]]	[[112568326, 112568373], [112572541, 112572677], [112572816, 112572870], [112578622, 112579028], [112579892, 112580099]]
ENST00000548277	[[112579756, 112580099], [112583389, 112583466], [112585877, 112586017]]	None
NM_006700	[[112563348, 112563422], [112568314, 112568373], [112572541, 112572677], [112572816, 112572870], [112578622, 112579028], [112579892, 112580099], [112583389, 112583466], [112585877, 112586108], [112587554, 112587675], [112589604, 112589944], [112590230, 112590303], [112590538, 112591408]]	[[112568326, 112568373], [112572541, 112572677], [112572816, 112572870], [112578622, 112579028], [112579892, 112580099], [112583389, 112583466], [112585877, 112586108], [112587554, 112587675], [112589604, 112589944], [112590230, 112590303], [112590538, 112590595]]
NM_001143906	[[112563348, 112563953], [112568314, 112568373], [112572541, 112572677], [112572816, 112572870], [112578622, 112579028], [112579892, 112580099], [112583389, 112583466], [112585877, 112586108], [112587554, 112587675], [112589604, 112589944], [112590230, 112590303], [112590538, 112591408]]	[[112568326, 112568373], [112572541, 112572677], [112572816, 112572870], [112578622, 112579028], [112579892, 112580099], [112583389, 112583466], [112585877, 112586108], [112587554, 112587675], [112589604, 112589944], [112590230, 112590303], [112590538, 112590595]]

Promoter

Chrom	Start	End	Description
chr12	112563303	112563317	CAGE_peak_3_at_TRAFD1_5end
chr12	112563319	112563334	CAGE_peak_2_at_TRAFD1_5end
chr12	112563335	112563371	CAGE_peak_1_at_TRAFD1_5end
chr12	112568296	112568328	CAGE_peak_4_at_TRAFD1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I112120	112120873	112123874	1.32	[{'connected_gene': 'TMEM116', 'score': 26.95}, {'connected_gene': 'ADAM1A', 'score': 5.53}, {'connected_gene': 'TRAFD1', 'score': 0.77}, {'connected_gene': 'GC12P112109', 'score': 0.39}]
chr12	GH12I112141	112141490	112142616	0.31	[{'connected_gene': 'TMEM116', 'score': 26.92}, {'connected_gene': 'NAA25', 'score': 13.17}, {'connected_gene': 'GC12P112151', 'score': 0.44}, {'connected_gene': 'TRAFD1', 'score': 0.37}]
chr12	GH12I112011	112011401	112015726	2.33	[{'connected_gene': 'TMEM116', 'score': 577.97}, {'connected_gene': 'ERP29', 'score': 550.77}, {'connected_gene': 'RPL6', 'score': 20.27}, {'connected_gene': 'HSPA8P14', 'score': 19.78}, {'connected_gene': 'MAPKAPK5', 'score': 14.65}, {'connected_gene': 'HECTD4', 'score': 12.1}, {'connected_gene': 'ADAM1A', 'score': 11.52}, {'connected_gene': 'NAA25', 'score': 11.04}, {'connected_gene': 'TRAFD1', 'score': 10.07}, {'connected_gene': 'RPS2P41', 'score': 9.87}, {'connected_gene': 'GC12P112008', 'score': 0.77}, {'connected_gene': 'ENSG00000274227', 'score': 0.44}]
chr12	GH12I112005	112005586	112006435	1.34	[{'connected_gene': 'TMEM116', 'score': 27.63}, {'connected_gene': 'TRAFD1', 'score': 13.62}, {'connected_gene': 'LOC724085', 'score': 0.77}, {'connected_gene': 'GC12P112008', 'score': 0.77}]
chr12	GH12I112095	112095504	112097900	1.45	[{'connected_gene': 'TMEM116', 'score': 5.29}, {'connected_gene': 'TRAFD1', 'score': 4.86}, {'connected_gene': 'ALDH2', 'score': 1.46}, {'connected_gene': 'NAA25', 'score': 0.39}, {'connected_gene': 'ENSG00000200688', 'score': 0.31}]
chr12	GH12I112115	112115863	112118072	1.67	[{'connected_gene': 'ADAM1A', 'score': 19.43}, {'connected_gene': 'TMEM116', 'score': 5.26}, {'connected_gene': 'TRAFD1', 'score': 3.27}, {'connected_gene': 'ALDH2', 'score': 1.35}, {'connected_gene': 'GC12P112109', 'score': 0.44}]
chr12	GH12I112152	112152144	112155002	0.43	[{'connected_gene': 'ADAM1A', 'score': 25.77}, {'connected_gene': 'ATXN2', 'score': 15.3}, {'connected_gene': 'NAA25', 'score': 11.73}, {'connected_gene': 'HECTD4', 'score': 10.23}, {'connected_gene': 'ALDH2', 'score': 9.93}, {'connected_gene': 'TMEM116', 'score': 5.23}, {'connected_gene': 'ENSG00000200135', 'score': 0.77}, {'connected_gene': 'MIR6861', 'score': 0.44}, {'connected_gene': 'TRAFD1', 'score': 0.31}]
chr12	GH12I112165	112165609	112171813	0.65	[{'connected_gene': 'ADAM1A', 'score': 20.11}, {'connected_gene': 'TRAFD1', 'score': 10.89}, {'connected_gene': 'MAPKAPK5', 'score': 10.85}, {'connected_gene': 'HSPA8P14', 'score': 10.22}, {'connected_gene': 'TMEM116', 'score': 5.22}, {'connected_gene': 'MIR6861', 'score': 0.44}, {'connected_gene': 'GC12P112212', 'score': 0.26}, {'connected_gene': 'HECTD4', 'score': 0.08}]
chr12	GH12I112134	112134752	112135823	0.43	[{'connected_gene': 'NAA25', 'score': 12.51}, {'connected_gene': 'ERP29', 'score': 10.65}, {'connected_gene': 'TMEM116', 'score': 10.65}, {'connected_gene': 'ADAM1A', 'score': 5.59}, {'connected_gene': 'TRAFD1', 'score': 0.44}, {'connected_gene': 'GC12P112151', 'score': 0.39}]
chr12	GH12I112140	112140401	112140800	0.43	[{'connected_gene': 'NAA25', 'score': 13.17}, {'connected_gene': 'GC12P112151', 'score': 0.44}, {'connected_gene': 'TRAFD1', 'score': 0.37}]
chr12	GH12I111840	111840225	111843947	2.1	[{'connected_gene': 'MAPKAPK5-AS1', 'score': 550.77}, {'connected_gene': 'MAPKAPK5', 'score': 550.77}, {'connected_gene': 'GC12P111844', 'score': 550.77}, {'connected_gene': 'HECTD4', 'score': 22.14}, {'connected_gene': 'ATXN2', 'score': 16.43}, {'connected_gene': 'ALDH2', 'score': 13.85}, {'connected_gene': 'TRAFD1', 'score': 12.92}, {'connected_gene': 'TMEM116', 'score': 12.41}, {'connected_gene': 'RPL6', 'score': 11.86}, {'connected_gene': 'ADAM1A', 'score': 11.61}, {'connected_gene': 'HSPA8P14', 'score': 10.55}, {'connected_gene': 'RPS2P41', 'score': 10.03}, {'connected_gene': 'GC12P111836', 'score': 0.44}]
chr12	GH12I112936	112936307	112939345	1.97	[{'connected_gene': 'OAS3', 'score': 589.63}, {'connected_gene': 'TRAFD1', 'score': 9.96}, {'connected_gene': 'OAS1', 'score': 4.98}, {'connected_gene': 'GC12M112917', 'score': 0.77}, {'connected_gene': 'ENSG00000257452', 'score': 0.18}]
chr12	GH12I111684	111684433	111687226	2.08	[{'connected_gene': 'BRAP', 'score': 550.77}, {'connected_gene': 'ACAD10', 'score': 550.77}, {'connected_gene': 'ALDH2', 'score': 14.61}, {'connected_gene': 'TRAFD1', 'score': 12.9}, {'connected_gene': 'RPL6', 'score': 11.85}, {'connected_gene': 'HSPA8P14', 'score': 10.57}, {'connected_gene': 'RPS2P41', 'score': 9.84}, {'connected_gene': 'PCNPP1', 'score': 0.37}]
chr12	GH12I111635	111635007	111637790	1.17	[{'connected_gene': 'ALDH2', 'score': 11.57}, {'connected_gene': 'TRAFD1', 'score': 9.98}, {'connected_gene': 'ACAD10', 'score': 4.59}, {'connected_gene': 'GC12M111627', 'score': 0.39}, {'connected_gene': 'GC12P111612', 'score': 0.34}]
chr12	GH12I112124	112124662	112132060	2.45	[{'connected_gene': 'TRAFD1', 'score': 550.77}, {'connected_gene': 'TMEM116', 'score': 37.45}, {'connected_gene': 'MAPKAPK5', 'score': 15.99}, {'connected_gene': 'BRAP', 'score': 14.97}, {'connected_gene': 'ADAM1A', 'score': 11.4}, {'connected_gene': 'NAA25', 'score': 10.7}, {'connected_gene': 'ERP29', 'score': 10.66}, {'connected_gene': 'GC12P112151', 'score': 0.34}]
chr12	GH12I112116	112115334	112115678	0.74	[{'connected_gene': 'TRAFD1', 'score': 0.44}, {'connected_gene': 'GC12P112109', 'score': 0.44}]
chr12	GH12I112160	112160391	112164592	0.49	[{'connected_gene': 'MIR6861', 'score': 550.77}, {'connected_gene': 'TMEM116', 'score': 37.34}, {'connected_gene': 'ADAM1A', 'score': 19.97}, {'connected_gene': 'TRAFD1', 'score': 11.85}, {'connected_gene': 'NAA25', 'score': 11.8}, {'connected_gene': 'ALDH2', 'score': 11.42}, {'connected_gene': 'ERP29', 'score': 10.54}, {'connected_gene': 'ENSG00000200135', 'score': 0.39}, {'connected_gene': 'HECTD4', 'score': 0.08}]
chr12	GH12I112597	112597854	112598295	0.47	[{'connected_gene': 'GC12M112589', 'score': 550.77}, {'connected_gene': 'RPH3A', 'score': 12.48}, {'connected_gene': 'OAS2', 'score': 8.71}, {'connected_gene': 'OAS3', 'score': 6.5}, {'connected_gene': 'OAS1', 'score': 4.01}, {'connected_gene': 'TRAFD1', 'score': 1.16}, {'connected_gene': 'GC12P112594', 'score': 0.77}, {'connected_gene': 'PIR44714', 'score': 0.77}]
chr12	GH12I112111	112111993	112113756	1.15	[{'connected_gene': 'GC12P112109', 'score': 0.77}, {'connected_gene': 'TRAFD1', 'score': 0.39}]
chr12	GH12I112147	112147560	112150605	0.92	[{'connected_gene': 'GC12P112151', 'score': 550.77}, {'connected_gene': 'ENSG00000200135', 'score': 550.77}, {'connected_gene': 'TRAFD1', 'score': 0.34}]