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
ENST00000468516	[[109715783, 109717234], [109723250, 109723316], [109724452, 109724528]]	[[109717123, 109717234], [109723250, 109723316], [109724452, 109724528]]
ENST00000355216	[[109715783, 109717735], [109719211, 109719604], [109723108, 109723316], [109724452, 109724666], [109746040, 109746129], [109746923, 109747025]]	[[109717475, 109717735], [109719211, 109719604], [109723108, 109723316], [109724452, 109724605]]
ENST00000299162	[[109715784, 109717735], [109719211, 109719604], [109723108, 109723316], [109724452, 109724549], [109725201, 109725329], [109725648, 109725759], [109725860, 109725985], [109727945, 109728091], [109746040, 109746129], [109746923, 109747025]]	[[109717475, 109717735], [109719211, 109719604], [109723108, 109723316], [109724452, 109724549], [109725201, 109725329], [109725648, 109725759], [109725860, 109725985], [109727945, 109728091], [109746040, 109746126]]
ENST00000423960	[[109717565, 109717735], [109719211, 109719604], [109723108, 109723316], [109724452, 109724549], [109725648, 109725762], [109725860, 109725985], [109727945, 109728057]]	[[109719603, 109719604], [109723108, 109723316], [109724452, 109724549], [109725648, 109725762], [109725860, 109725985], [109727945, 109728057]]
NM_213596	[[109715782, 109717735], [109719211, 109719604], [109723108, 109723316], [109724452, 109724549], [109725201, 109725329], [109725648, 109725759], [109725860, 109725985], [109727945, 109728091], [109746040, 109746129], [109746923, 109747025]]	[[109717475, 109717735], [109719211, 109719604], [109723108, 109723316], [109724452, 109724549], [109725201, 109725329], [109725648, 109725759], [109725860, 109725985], [109727945, 109728091], [109746040, 109746126]]

Promoter

Chrom	Start	End	Description
chr12	109747023	109747033	CAGE_peak_3_at_FOXN4_5end
chr12	109747040	109747055	CAGE_peak_1_at_FOXN4_5end
chr12	109747083	109747094	CAGE_peak_2_at_FOXN4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I109526	109526728	109528860	0.38	[{'connected_gene': 'KCTD10', 'score': 21.4}, {'connected_gene': 'MVK', 'score': 19.02}, {'connected_gene': 'MMAB', 'score': 18.31}, {'connected_gene': 'RNU4-32P', 'score': 10.65}, {'connected_gene': 'TRPV4', 'score': 10.01}, {'connected_gene': 'MYO1H', 'score': 9.21}, {'connected_gene': 'FOXN4', 'score': 6.34}, {'connected_gene': 'PIR34953', 'score': 0.44}, {'connected_gene': 'PIR31921', 'score': 0.31}, {'connected_gene': 'GC12P109501', 'score': 0.31}, {'connected_gene': 'UBE3B', 'score': 0.23}]
chr12	GH12I108626	108626747	108650980	2.81	[{'connected_gene': 'SELPLG', 'score': 561.83}, {'connected_gene': 'PWP1', 'score': 46.82}, {'connected_gene': 'SART3', 'score': 38.69}, {'connected_gene': 'PRDM4', 'score': 20.42}, {'connected_gene': 'UBE3B', 'score': 20.14}, {'connected_gene': 'RNU4-32P', 'score': 19.44}, {'connected_gene': 'CORO1C', 'score': 17.53}, {'connected_gene': 'FICD', 'score': 15.49}, {'connected_gene': 'LOC101929162', 'score': 15.2}, {'connected_gene': 'TMEM119', 'score': 11.32}, {'connected_gene': 'RNU7-169P', 'score': 10.97}, {'connected_gene': 'LINC01498', 'score': 10.47}, {'connected_gene': 'ALKBH2', 'score': 10.34}, {'connected_gene': 'ENSG00000257221', 'score': 8.22}, {'connected_gene': 'FOXN4', 'score': 5.63}, {'connected_gene': 'MVK', 'score': 5.5}, {'connected_gene': 'ACACB', 'score': 4.69}, {'connected_gene': 'ISCU', 'score': 4.63}, {'connected_gene': 'SSH1', 'score': 1.87}, {'connected_gene': 'MIR4496', 'score': 0.77}, {'connected_gene': 'GC12P108645', 'score': 0.44}, {'connected_gene': 'GC12P108633', 'score': 0.44}, {'connected_gene': 'LOC105369968', 'score': 0.39}]
chr12	GH12I109291	109291025	109292384	1.02	[{'connected_gene': 'IFT81', 'score': 20.51}, {'connected_gene': 'SART3', 'score': 13.39}, {'connected_gene': 'ALKBH2', 'score': 12.07}, {'connected_gene': 'UBE3B', 'score': 11.97}, {'connected_gene': 'FOXN4', 'score': 6.65}, {'connected_gene': 'GC12M109280', 'score': 0.77}, {'connected_gene': 'PIR60835', 'score': 0.77}]
chr12	GH12I109247	109247303	109249418	0.74	[{'connected_gene': 'MYO1H', 'score': 10.75}, {'connected_gene': 'ACACB', 'score': 10.15}, {'connected_gene': 'FOXN4', 'score': 5.01}, {'connected_gene': 'PIR49936', 'score': 0.44}, {'connected_gene': 'GC12M109262', 'score': 0.37}]
chr12	GH12I109347	109347457	109348549	0.83	[{'connected_gene': 'MYO1H', 'score': 555.32}, {'connected_gene': 'FOXN4', 'score': 15.88}, {'connected_gene': 'LINC01486', 'score': 0.39}]
chr12	GH12I109277	109277843	109278636	0.9	[{'connected_gene': 'MYO1H', 'score': 10.78}, {'connected_gene': 'GC12M109280', 'score': 0.44}, {'connected_gene': 'GC12M109262', 'score': 0.39}, {'connected_gene': 'FOXN4', 'score': 0.29}]
chr12	GH12I108726	108726440	108735770	2.31	[{'connected_gene': 'CORO1C', 'score': 560.11}, {'connected_gene': 'LOC101929162', 'score': 21.77}, {'connected_gene': 'RNU4-32P', 'score': 19.39}, {'connected_gene': 'RNU7-169P', 'score': 11.01}, {'connected_gene': 'SSH1', 'score': 10.68}, {'connected_gene': 'SART3', 'score': 10.58}, {'connected_gene': 'SELPLG', 'score': 10.4}, {'connected_gene': 'UBE3B', 'score': 10.07}, {'connected_gene': 'PRDM4', 'score': 10.04}, {'connected_gene': 'ENSG00000257221', 'score': 8.16}, {'connected_gene': 'ACACB', 'score': 5.48}, {'connected_gene': 'FOXN4', 'score': 4.45}, {'connected_gene': 'LOC105369969', 'score': 0.77}, {'connected_gene': 'GC12M108717', 'score': 0.39}]
chr12	GH12I109310	109309800	109310201	1.09	[{'connected_gene': 'FOXN4', 'score': 550.77}, {'connected_gene': 'SART3', 'score': 14.46}, {'connected_gene': 'TCHP', 'score': 11.02}, {'connected_gene': 'UBE3B', 'score': 10.95}, {'connected_gene': 'PIR60835', 'score': 0.37}]
chr12	GH12I109311	109311936	109312085	0.75	[{'connected_gene': 'FOXN4', 'score': 550.77}, {'connected_gene': 'MYO1H', 'score': 10.86}, {'connected_gene': 'ENSG00000255655', 'score': 9.22}]
chr12	GH12I109309	109309232	109309291	0.92	[{'connected_gene': 'FOXN4', 'score': 550.77}, {'connected_gene': 'PIR60835', 'score': 0.39}]
chr12	GH12I109446	109446682	109449707	0.52	[{'connected_gene': 'ENSG00000255655', 'score': 550.77}, {'connected_gene': 'MYO1H', 'score': 11.34}, {'connected_gene': 'UBE3B', 'score': 9.59}, {'connected_gene': 'MVK', 'score': 8.52}, {'connected_gene': 'KCTD10', 'score': 6.32}, {'connected_gene': 'FOXN4', 'score': 5.99}]