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
ENST00000521096	[[75233364, 75233480], [75272371, 75272545], [75274118, 75274213], [75275173, 75275288], [75276219, 75276525]]	None
ENST00000520797	[[75233748, 75233823], [75272371, 75272545], [75274118, 75274213], [75275173, 75275288], [75276219, 75276495]]	None
ENST00000524195	[[75275185, 75275288], [75400912, 75401107]]	None
ENST00000220822	[[75262616, 75262813], [75263508, 75263701], [75272371, 75272545], [75274118, 75274213], [75275173, 75275288], [75276219, 75279111]]	[[75262696, 75262813], [75263508, 75263701], [75272371, 75272545], [75274118, 75274213], [75275173, 75275288], [75276219, 75276602]]
ENST00000434412	[[75262652, 75262707], [75263532, 75263701], [75272371, 75272545], [75274118, 75274213], [75275173, 75275288], [75276219, 75276839]]	[[75263595, 75263701], [75272371, 75272545], [75274118, 75274213], [75275173, 75275288], [75276219, 75276602]]
ENST00000523640	[[75262668, 75262813], [75272371, 75272483]]	None
ENST00000524366	[[75262678, 75262813], [75263508, 75263701], [75274118, 75274213], [75275173, 75275288], [75276219, 75276264]]	None
ENST00000522568	[[75262678, 75262813], [75263508, 75263556], [75272371, 75272545], [75274118, 75274213], [75275173, 75275288], [75276219, 75276976]]	[[75262696, 75262813], [75263508, 75263556], [75272371, 75272389]]
NM_001040875	[[75262617, 75262707], [75263532, 75263701], [75272371, 75272545], [75274118, 75274213], [75275173, 75275288], [75276219, 75279345]]	[[75263595, 75263701], [75272371, 75272545], [75274118, 75274213], [75275173, 75275288], [75276219, 75276602]]
NR_046346	[[75262617, 75262813], [75263508, 75263556], [75272371, 75272545], [75274118, 75274213], [75275173, 75275288], [75276219, 75279345]]	None
NM_018972	[[75262617, 75262813], [75263508, 75263701], [75272371, 75272545], [75274118, 75274213], [75275173, 75275288], [75276219, 75279345]]	[[75262696, 75262813], [75263508, 75263701], [75272371, 75272545], [75274118, 75274213], [75275173, 75275288], [75276219, 75276602]]

Promoter

Chrom	Start	End	Description
chr8	75232879	75232891	CAGE_peak_4_at_GDAP1_5end
chr8	75233084	75233095	CAGE_peak_6_at_GDAP1_5end
chr8	75262612	75262622	CAGE_peak_2_at_GDAP1_5end
chr8	75262629	75262694	CAGE_peak_1_at_GDAP1_5end
chr8	75275038	75275041	CAGE_peak_3_at_GDAP1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I074108	74108258	74110060	0.59	[{'connected_gene': 'JPH1', 'score': 10.8}, {'connected_gene': 'GDAP1', 'score': 10.8}, {'connected_gene': 'ENSG00000253115', 'score': 0.44}, {'connected_gene': 'LOC105375903', 'score': 0.16}]
chr8	GH08I074280	74280759	74282396	0.86	[{'connected_gene': 'JPH1', 'score': 15.73}, {'connected_gene': 'GDAP1', 'score': 10.64}, {'connected_gene': 'PIR38324', 'score': 0.39}, {'connected_gene': 'GC08P074237', 'score': 0.26}]
chr8	GH08I074292	74292793	74306800	0.71	[{'connected_gene': 'JPH1', 'score': 20.36}, {'connected_gene': 'GDAP1', 'score': 12.1}, {'connected_gene': 'ENSG00000253596', 'score': 10.78}, {'connected_gene': 'PIR38324', 'score': 0.44}]
chr8	GH08I074241	74241651	74243049	0.2	[{'connected_gene': 'JPH1', 'score': 17.33}, {'connected_gene': 'GDAP1', 'score': 10.45}, {'connected_gene': 'ENSG00000253596', 'score': 10.41}, {'connected_gene': 'GC08P074237', 'score': 0.77}, {'connected_gene': 'PIR38324', 'score': 0.23}]
chr8	GH08I074264	74264503	74265162	0.2	[{'connected_gene': 'JPH1', 'score': 10.39}, {'connected_gene': 'GDAP1', 'score': 10.39}, {'connected_gene': 'PIR38324', 'score': 0.31}, {'connected_gene': 'GC08P074237', 'score': 0.31}]
chr8	GH08I074275	74275569	74276412	0.58	[{'connected_gene': 'JPH1', 'score': 10.79}, {'connected_gene': 'GDAP1', 'score': 10.79}, {'connected_gene': 'PIR38324', 'score': 0.37}, {'connected_gene': 'GC08P074237', 'score': 0.28}]
chr8	GH08I074277	74277306	74277455	0.69	[{'connected_gene': 'JPH1', 'score': 10.8}, {'connected_gene': 'GDAP1', 'score': 10.8}, {'connected_gene': 'PIR38324', 'score': 0.37}, {'connected_gene': 'GC08P074237', 'score': 0.28}]
chr8	GH08I074278	74278503	74279898	0.2	[{'connected_gene': 'JPH1', 'score': 10.8}, {'connected_gene': 'GDAP1', 'score': 10.8}, {'connected_gene': 'PIR38324', 'score': 0.39}, {'connected_gene': 'GC08P074237', 'score': 0.26}]
chr8	GH08I074250	74249877	74251591	0.88	[{'connected_gene': 'JPH1', 'score': 14.55}, {'connected_gene': 'GDAP1', 'score': 10.29}, {'connected_gene': 'GC08P074237', 'score': 0.39}, {'connected_gene': 'PIR38324', 'score': 0.26}]
chr8	GH08I074283	74283421	74285374	0.4	[{'connected_gene': 'JPH1', 'score': 17.58}, {'connected_gene': 'GDAP1', 'score': 10.69}, {'connected_gene': 'PIR38324', 'score': 0.44}, {'connected_gene': 'GC08P074237', 'score': 0.25}]
chr8	GH08I074261	74261428	74264336	0.2	[{'connected_gene': 'JPH1', 'score': 10.39}, {'connected_gene': 'GDAP1', 'score': 10.39}, {'connected_gene': 'GC08P074237', 'score': 0.34}, {'connected_gene': 'PIR38324', 'score': 0.29}]
chr8	GH08I074270	74270506	74272505	0.51	[{'connected_gene': 'JPH1', 'score': 16.06}, {'connected_gene': 'GDAP1', 'score': 11.07}, {'connected_gene': 'PIR38324', 'score': 0.34}, {'connected_gene': 'GC08P074237', 'score': 0.29}]
chr8	GH08I074337	74337401	74337675	0.76	[{'connected_gene': 'JPH1', 'score': 11.57}, {'connected_gene': 'ENSG00000253596', 'score': 0.39}, {'connected_gene': 'GDAP1', 'score': 0.37}]
chr8	GH08I074339	74338246	74338395	0.52	[{'connected_gene': 'JPH1', 'score': 20.96}, {'connected_gene': 'ENSG00000253596', 'score': 0.39}, {'connected_gene': 'GDAP1', 'score': 0.37}]
chr8	GH08I074312	74312429	74316094	0.31	[{'connected_gene': 'JPH1', 'score': 4.95}, {'connected_gene': 'GDAP1', 'score': 0.44}, {'connected_gene': 'PIR38324', 'score': 0.34}]
chr8	GH08I074319	74319966	74323104	1.58	[{'connected_gene': 'JPH1', 'score': 555.74}, {'connected_gene': 'GDAP1', 'score': 550.77}, {'connected_gene': 'ENSG00000253596', 'score': 0.31}]
chr8	GH08I074307	74307954	74310960	0.31	[{'connected_gene': 'JPH1', 'score': 5.36}, {'connected_gene': 'GDAP1', 'score': 0.39}, {'connected_gene': 'PIR38324', 'score': 0.37}]
chr8	GH08I074330	74330986	74331135	0.2	[{'connected_gene': 'JPH1', 'score': 0.44}, {'connected_gene': 'GDAP1', 'score': 0.44}, {'connected_gene': 'ENSG00000253596', 'score': 0.37}]
chr8	GH08I074323	74323106	74323255	0.58	[{'connected_gene': 'JPH1', 'score': 550.77}, {'connected_gene': 'GDAP1', 'score': 0.77}, {'connected_gene': 'ENSG00000253596', 'score': 0.31}]
chr8	GH08I073892	73892828	73893235	0.85	[{'connected_gene': 'TMEM70', 'score': 10.48}, {'connected_gene': 'ELOC', 'score': 10.48}, {'connected_gene': 'STAU2', 'score': 10.42}, {'connected_gene': 'ENSG00000253596', 'score': 9.42}, {'connected_gene': 'GDAP1', 'score': 9.42}, {'connected_gene': 'UBE2W', 'score': 5.76}, {'connected_gene': 'PIR51756', 'score': 0.39}, {'connected_gene': 'LINC01617', 'score': 0.39}]
chr8	GH08I074242	74241056	74241547	0.2	[{'connected_gene': 'GDAP1', 'score': 10.36}, {'connected_gene': 'JPH1', 'score': 10.35}, {'connected_gene': 'GC08P074237', 'score': 0.77}, {'connected_gene': 'PIR38324', 'score': 0.23}]
chr8	GH08I074245	74245872	74246498	0.31	[{'connected_gene': 'GDAP1', 'score': 10.46}, {'connected_gene': 'ENSG00000253596', 'score': 10.41}, {'connected_gene': 'JPH1', 'score': 10.22}, {'connected_gene': 'GC08P074237', 'score': 0.44}, {'connected_gene': 'PIR38324', 'score': 0.25}]
chr8	GH08I074249	74249466	74249615	0.4	[{'connected_gene': 'GDAP1', 'score': 10.46}, {'connected_gene': 'ENSG00000253596', 'score': 10.41}, {'connected_gene': 'JPH1', 'score': 10.23}, {'connected_gene': 'GC08P074237', 'score': 0.39}, {'connected_gene': 'PIR38324', 'score': 0.26}]
chr8	GH08I074248	74248759	74249436	0.4	[{'connected_gene': 'GDAP1', 'score': 10.46}, {'connected_gene': 'ENSG00000253596', 'score': 10.41}, {'connected_gene': 'JPH1', 'score': 10.23}, {'connected_gene': 'GC08P074237', 'score': 0.39}, {'connected_gene': 'PIR38324', 'score': 0.26}]
chr8	GH08I074233	74233413	74234374	0.2	[{'connected_gene': 'GDAP1', 'score': 10.15}, {'connected_gene': 'JPH1', 'score': 10.07}, {'connected_gene': 'GC08P074237', 'score': 0.77}, {'connected_gene': 'PIR60941', 'score': 0.34}]
chr8	GH08I074243	74243915	74245187	0.2	[{'connected_gene': 'GDAP1', 'score': 10.45}, {'connected_gene': 'ENSG00000253596', 'score': 10.41}, {'connected_gene': 'JPH1', 'score': 10.22}, {'connected_gene': 'GC08P074237', 'score': 0.44}, {'connected_gene': 'PIR38324', 'score': 0.25}]
chr8	GH08I074273	74273511	74275044	0.83	[{'connected_gene': 'GDAP1', 'score': 11.07}, {'connected_gene': 'JPH1', 'score': 10.79}, {'connected_gene': 'PIR38324', 'score': 0.37}, {'connected_gene': 'GC08P074237', 'score': 0.28}]
chr8	GH08I074076	74076753	74077578	0.31	[{'connected_gene': 'GDAP1', 'score': 4.64}, {'connected_gene': 'RNU6-1197P', 'score': 0.77}, {'connected_gene': 'ENSG00000254288', 'score': 0.34}, {'connected_gene': 'RPS3AP32', 'score': 0.34}, {'connected_gene': 'GC08M074054', 'score': 0.31}]
chr8	GH08I074662	74662383	74662707	0.22	[{'connected_gene': 'GDAP1', 'score': 1.64}, {'connected_gene': 'GC08P074658', 'score': 0.44}, {'connected_gene': 'MIR2052', 'score': 0.26}, {'connected_gene': 'MIR2052HG', 'score': 0.21}]
chr8	GH08I074349	74349786	74351401	2.06	[{'connected_gene': 'GDAP1', 'score': 557.2}, {'connected_gene': 'ENSG00000253596', 'score': 550.77}, {'connected_gene': 'ENSG00000253341', 'score': 9.92}, {'connected_gene': 'GC08P074377', 'score': 0.31}]
chr8	GH08I074366	74366206	74366355	0.65	[{'connected_gene': 'GDAP1', 'score': 4.83}, {'connected_gene': 'GC08P074377', 'score': 0.39}, {'connected_gene': 'ENSG00000253596', 'score': 0.37}]
chr8	GH08I074033	74032546	74032695	0.2	[{'connected_gene': 'LY96', 'score': 11.03}, {'connected_gene': 'TMEM70', 'score': 10.49}, {'connected_gene': 'ELOC', 'score': 10.49}, {'connected_gene': 'GDAP1', 'score': 4.61}, {'connected_gene': 'GC08M074003', 'score': 0.77}, {'connected_gene': 'RNU6-1300P', 'score': 0.37}]
chr8	GH08I074338	74338961	74340380	0.54	[{'connected_gene': 'ENSG00000253596', 'score': 0.39}, {'connected_gene': 'JPH1', 'score': 0.37}, {'connected_gene': 'GDAP1', 'score': 0.37}]
chr8	GH08I074235	74235264	74238693	0.69	[{'connected_gene': 'GC08P074237', 'score': 550.77}, {'connected_gene': 'JPH1', 'score': 14.61}, {'connected_gene': 'GDAP1', 'score': 10.38}, {'connected_gene': 'PIR60941', 'score': 0.31}]
chr8	GH08I074102	74102675	74104116	0.31	[{'connected_gene': 'GC08M074054', 'score': 550.77}, {'connected_gene': 'ENSG00000253115', 'score': 550.77}, {'connected_gene': 'JPH1', 'score': 10.8}, {'connected_gene': 'GDAP1', 'score': 10.8}]
chr8	GH08I074461	74461686	74461835	0.2	[{'connected_gene': 'GC08P074448', 'score': 0.39}, {'connected_gene': 'MIR5681A', 'score': 0.17}, {'connected_gene': 'GDAP1', 'score': 0.11}]
chr8	GH08I074464	74464406	74464555	0.2	[{'connected_gene': 'GC08P074448', 'score': 0.37}, {'connected_gene': 'MIR5681A', 'score': 0.18}, {'connected_gene': 'GDAP1', 'score': 0.11}]