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
ENST00000512251	[[159593276, 159593642], [159601679, 159601759]]	[[159593608, 159593642], [159601679, 159601759]]
ENST00000511912	[[159593276, 159593642], [159601618, 159601759], [159603346, 159603576], [159605743, 159605825], [159606252, 159606371], [159611499, 159611577], [159616648, 159616795], [159618710, 159618851], [159620138, 159620282], [159624574, 159624743], [159627340, 159627523], [159627780, 159628002], [159629515, 159630775]]	[[159593608, 159593642], [159601618, 159601759], [159603346, 159603576], [159605743, 159605825], [159606252, 159606371], [159611499, 159611577], [159616648, 159616795], [159618710, 159618851], [159620138, 159620282], [159624574, 159624743], [159627340, 159627523], [159627780, 159628002], [159629515, 159629679]]
ENST00000507475	[[159593458, 159593642], [159605743, 159605825], [159606252, 159606371], [159611499, 159611577], [159616648, 159616795], [159618710, 159618851], [159620138, 159620154]]	[[159606260, 159606371], [159611499, 159611577], [159616648, 159616795], [159618710, 159618851], [159620138, 159620154]]
ENST00000510353	[[159593467, 159593642], [159600441, 159601253]]	None
ENST00000436096	[[159593467, 159593642], [159601618, 159601759], [159602722, 159602766], [159603346, 159603576]]	None
ENST00000307738	[[159593490, 159593642], [159603346, 159603576], [159605743, 159605825], [159606252, 159606371], [159611499, 159611577], [159616648, 159616795], [159618710, 159618851], [159620138, 159620282], [159624574, 159624743], [159627340, 159627523], [159627780, 159628002], [159629515, 159629751]]	[[159593608, 159593642], [159603346, 159603576], [159605743, 159605825], [159606252, 159606371], [159611499, 159611577], [159616648, 159616795], [159618710, 159618851], [159620138, 159620282], [159624574, 159624743], [159627340, 159627523], [159627780, 159628002], [159629515, 159629679]]
ENST00000506422	[[159593556, 159593642], [159624574, 159624743], [159627340, 159627523], [159627780, 159628002], [159629515, 159629720]]	None
ENST00000514148	[[159603093, 159603576], [159605743, 159605927]]	None
NM_001281737	[[159593252, 159593642], [159603346, 159603576], [159605743, 159605825], [159606252, 159606371], [159611499, 159611577], [159616648, 159616795], [159618710, 159618851], [159620138, 159620282], [159624574, 159624743], [159627340, 159627523], [159627780, 159628002], [159629515, 159629865]]	[[159593608, 159593642], [159603346, 159603576], [159605743, 159605825], [159606252, 159606371], [159611499, 159611577], [159616648, 159616795], [159618710, 159618851], [159620138, 159620282], [159624574, 159624743], [159627340, 159627523], [159627780, 159628002], [159629515, 159629679]]
NM_004453	[[159593252, 159593642], [159601618, 159601759], [159603346, 159603576], [159605743, 159605825], [159606252, 159606371], [159611499, 159611577], [159616648, 159616795], [159618710, 159618851], [159620138, 159620282], [159624574, 159624743], [159627340, 159627523], [159627780, 159628002], [159629515, 159629865]]	[[159593608, 159593642], [159601618, 159601759], [159603346, 159603576], [159605743, 159605825], [159606252, 159606371], [159611499, 159611577], [159616648, 159616795], [159618710, 159618851], [159620138, 159620282], [159624574, 159624743], [159627340, 159627523], [159627780, 159628002], [159629515, 159629679]]
NM_001281738	[[159603259, 159603576], [159605743, 159605825], [159606252, 159606371], [159611499, 159611577], [159616648, 159616795], [159618710, 159618851], [159620138, 159620282], [159624574, 159624743], [159627340, 159627523], [159627780, 159628002], [159629515, 159629865]]	[[159603354, 159603576], [159605743, 159605825], [159606252, 159606371], [159611499, 159611577], [159616648, 159616795], [159618710, 159618851], [159620138, 159620282], [159624574, 159624743], [159627340, 159627523], [159627780, 159628002], [159629515, 159629679]]

Promoter

Chrom	Start	End	Description
chr4	159593271	159593295	CAGE_peak_2_at_ETFDH_5end
chr4	159593388	159593411	CAGE_peak_3_at_ETFDH_5end
chr4	159593418	159593517	CAGE_peak_1_at_ETFDH_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I159102	159102227	159108161	1.76	[{'connected_gene': 'RAPGEF2', 'score': 550.77}, {'connected_gene': 'C4orf46', 'score': 22.86}, {'connected_gene': 'C4orf45', 'score': 18.86}, {'connected_gene': 'ENSG00000271817', 'score': 11.08}, {'connected_gene': 'ETFDH', 'score': 5.27}, {'connected_gene': 'MIR3688-2', 'score': 0.34}, {'connected_gene': 'GC04P158864', 'score': 0.07}]
chr4	GH04I158808	158808211	158815448	1.75	[{'connected_gene': 'FNIP2', 'score': 38.25}, {'connected_gene': 'PPID', 'score': 18.22}, {'connected_gene': 'ETFDH', 'score': 13.26}, {'connected_gene': 'C4orf46', 'score': 11.41}, {'connected_gene': 'RAPGEF2', 'score': 8.48}, {'connected_gene': 'GC04M158795', 'score': 0.37}, {'connected_gene': 'RNU6-128P', 'score': 0.37}, {'connected_gene': 'GC04P158864', 'score': 0.23}]
chr4	GH04I158819	158819482	158822600	1.52	[{'connected_gene': 'FNIP2', 'score': 37.23}, {'connected_gene': 'PPID', 'score': 17.67}, {'connected_gene': 'RNU6-128P', 'score': 11.16}, {'connected_gene': 'ETFDH', 'score': 4.88}, {'connected_gene': 'C4orf45', 'score': 4.01}, {'connected_gene': 'RAPGEF2', 'score': 2.09}, {'connected_gene': 'GC04M158795', 'score': 0.31}, {'connected_gene': 'GC04P158864', 'score': 0.26}]
chr4	GH04I158823	158823001	158828733	1.63	[{'connected_gene': 'FNIP2', 'score': 41.32}, {'connected_gene': 'PPID', 'score': 18.36}, {'connected_gene': 'RNU6-128P', 'score': 11.14}, {'connected_gene': 'ETFDH', 'score': 5.8}, {'connected_gene': 'C4orf45', 'score': 4.48}, {'connected_gene': 'RAPGEF2', 'score': 2.36}, {'connected_gene': 'GC04M158795', 'score': 0.29}, {'connected_gene': 'GC04P158864', 'score': 0.28}]
chr4	GH04I158767	158767930	158770601	2.16	[{'connected_gene': 'FNIP2', 'score': 556.53}, {'connected_gene': 'ETFDH', 'score': 5.78}, {'connected_gene': 'PPID', 'score': 5.6}, {'connected_gene': 'RAPGEF2', 'score': 5.06}, {'connected_gene': 'GC04M158750', 'score': 0.44}]
chr4	GH04I158843	158843311	158844361	0.2	[{'connected_gene': 'PPID', 'score': 16.14}, {'connected_gene': 'ETFDH', 'score': 13.11}, {'connected_gene': 'FNIP2', 'score': 11.52}, {'connected_gene': 'GC04P158864', 'score': 0.34}, {'connected_gene': 'GC04M158795', 'score': 0.25}, {'connected_gene': 'RNU6-128P', 'score': 0.25}]
chr4	GH04I158721	158721659	158724319	2.3	[{'connected_gene': 'PPID', 'score': 556.4}, {'connected_gene': 'ETFDH', 'score': 31.29}, {'connected_gene': 'FNIP2', 'score': 2.76}, {'connected_gene': 'ENSG00000271817', 'score': 0.34}]
chr4	GH04I158895	158895705	158897233	0.66	[{'connected_gene': 'ETFDH', 'score': 12.67}, {'connected_gene': 'RAPGEF2', 'score': 10.76}, {'connected_gene': 'PPID', 'score': 10.27}, {'connected_gene': 'ENSG00000274535', 'score': 0.39}, {'connected_gene': 'GC04P158864', 'score': 0.29}, {'connected_gene': 'FNIP2', 'score': 0.13}, {'connected_gene': 'C4orf45', 'score': 0.09}]
chr4	GH04I158605	158605317	158605646	0.54	[{'connected_gene': 'ETFDH', 'score': 21.94}, {'connected_gene': 'GC04P158622', 'score': 0.37}, {'connected_gene': 'ENSG00000249901', 'score': 0.15}, {'connected_gene': 'RXFP1', 'score': 0.06}]
chr4	GH04I158540	158539615	158543510	1.14	[{'connected_gene': 'ETFDH', 'score': 28.93}, {'connected_gene': 'FNIP2', 'score': 13.11}, {'connected_gene': 'PPID', 'score': 1.58}, {'connected_gene': 'ENSG00000249901', 'score': 0.29}, {'connected_gene': 'GC04P158622', 'score': 0.18}, {'connected_gene': 'RXFP1', 'score': 0.07}]
chr4	GH04I159002	159002732	159004283	1.36	[{'connected_gene': 'ETFDH', 'score': 8.73}, {'connected_gene': 'FNIP2', 'score': 4.42}, {'connected_gene': 'PSME2P3', 'score': 0.77}, {'connected_gene': 'C4orf45', 'score': 0.18}, {'connected_gene': 'ENSG00000274535', 'score': 0.16}, {'connected_gene': 'GC04P158864', 'score': 0.12}]
chr4	GH04I158930	158930001	158930400	0.65	[{'connected_gene': 'ETFDH', 'score': 11.94}, {'connected_gene': 'C4orf45', 'score': 10.69}, {'connected_gene': 'RAPGEF2', 'score': 10.53}, {'connected_gene': 'ENSG00000274535', 'score': 0.34}, {'connected_gene': 'GC04P158864', 'score': 0.2}, {'connected_gene': 'PSME2P3', 'score': 0.18}]
chr4	GH04I158460	158460997	158462854	0.2	[{'connected_gene': 'ETFDH', 'score': 6.0}, {'connected_gene': 'GC04M158458', 'score': 0.77}, {'connected_gene': 'RNU4-79P', 'score': 0.2}, {'connected_gene': 'RXFP1', 'score': 0.11}]
chr4	GH04I158457	158457444	158460159	0.54	[{'connected_gene': 'ETFDH', 'score': 6.59}, {'connected_gene': 'GC04M158458', 'score': 0.44}, {'connected_gene': 'RNU4-79P', 'score': 0.21}, {'connected_gene': 'RXFP1', 'score': 0.11}]
chr4	GH04I159503	159503142	159504027	0.66	[{'connected_gene': 'ETFDH', 'score': 4.58}, {'connected_gene': 'ENSG00000250180', 'score': 0.14}, {'connected_gene': 'GC04P159658', 'score': 0.1}]
chr4	GH04I158670	158670235	158673567	2.35	[{'connected_gene': 'C4orf46', 'score': 550.77}, {'connected_gene': 'ETFDH', 'score': 550.77}, {'connected_gene': 'PPID', 'score': 11.28}, {'connected_gene': 'GC04P158665', 'score': 0.44}]
chr4	GH04I158663	158663201	158664699	1.07	[{'connected_gene': 'GC04P158665', 'score': 550.77}, {'connected_gene': 'ETFDH', 'score': 31.12}, {'connected_gene': 'GC04P158622', 'score': 0.26}]