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
ENST00000252597	[[17359984, 17361223], [17362390, 17362513], [17362719, 17362826], [17366193, 17366415], [17367279, 17367529], [17369020, 17369194], [17370097, 17370238], [17370404, 17370541], [17370705, 17370831], [17373360, 17373799], [17374810, 17374959], [17375054, 17375156], [17375479, 17375605]]	[[17361033, 17361223], [17362390, 17362513], [17362719, 17362826], [17366193, 17366415], [17367279, 17367529], [17369020, 17369194], [17370097, 17370238], [17370404, 17370541], [17370705, 17370831], [17373360, 17373799], [17374810, 17374959], [17375054, 17375108]]
ENST00000431146	[[17360962, 17361223], [17362390, 17362513], [17362719, 17362826], [17366193, 17366415], [17367279, 17367529], [17369020, 17369194], [17370097, 17370238], [17370404, 17370541], [17370705, 17370831], [17373360, 17373799], [17375054, 17375156], [17375479, 17375533]]	[[17361033, 17361223], [17362390, 17362513], [17362719, 17362826], [17366193, 17366415], [17367279, 17367529], [17369020, 17369194], [17370097, 17370238], [17370404, 17370541], [17370705, 17370831], [17373360, 17373799], [17375054, 17375065]]
ENST00000597928	[[17360966, 17361223], [17362390, 17362513], [17362719, 17362826], [17366193, 17366415], [17367279, 17367529], [17369020, 17369510], [17370097, 17370238], [17370404, 17370541], [17370705, 17370831], [17373360, 17374959], [17375054, 17375156], [17375479, 17375523]]	[[17374806, 17374959], [17375054, 17375108]]
ENST00000324554	[[17360967, 17361223], [17362390, 17362513], [17362719, 17362826], [17366193, 17366415], [17367279, 17367529], [17369020, 17369194], [17369392, 17369510], [17370097, 17370238], [17370404, 17370541], [17370705, 17370831], [17373360, 17373799], [17374810, 17374959], [17375054, 17375156], [17375479, 17375537]]	[[17369404, 17369510], [17370097, 17370238], [17370404, 17370541], [17370705, 17370831], [17373360, 17373799], [17374810, 17374959], [17375054, 17375108]]
ENST00000598570	[[17373392, 17373799], [17375054, 17375156], [17375479, 17375558]]	None
ENST00000595993	[[17373592, 17373836], [17374810, 17374959], [17375054, 17375156], [17375479, 17375562]]	None
ENST00000594190	[[17373637, 17373799], [17374810, 17374959], [17375054, 17375156], [17375369, 17375533]]	[[17373637, 17373799], [17374810, 17374959], [17375054, 17375108]]
ENST00000596436	[[17374641, 17374959], [17375054, 17375156], [17375479, 17375546]]	None
ENST00000600286	[[17374648, 17374959], [17375054, 17375156], [17375369, 17375554]]	None
ENST00000598309	[[17374915, 17374959], [17375054, 17375156], [17385221, 17385373], [17393344, 17393595]]	[[17374915, 17374959], [17375054, 17375108]]
NM_001321417	[[17360829, 17361223], [17362390, 17362513], [17362719, 17362826], [17366193, 17366415], [17367279, 17367529], [17369020, 17369194], [17370097, 17370238], [17370404, 17370541], [17370705, 17370831], [17373360, 17373799], [17374810, 17374959], [17375054, 17375156], [17375369, 17375605]]	[[17361033, 17361223], [17362390, 17362513], [17362719, 17362826], [17366193, 17366415], [17367279, 17367529], [17369020, 17369194], [17370097, 17370238], [17370404, 17370541], [17370705, 17370831], [17373360, 17373799], [17374810, 17374959], [17375054, 17375108]]
NR_135632	[[17360829, 17361223], [17362390, 17362513], [17362719, 17362826], [17366193, 17366415], [17367279, 17367529], [17369020, 17369194], [17369392, 17369510], [17370097, 17370238], [17370404, 17370541], [17370705, 17370831], [17373360, 17373799], [17374810, 17374959], [17375054, 17375156], [17375479, 17375605]]	None
NM_001297703	[[17360829, 17361223], [17362390, 17362513], [17362719, 17362826], [17366193, 17366415], [17367279, 17367529], [17369020, 17369194], [17370097, 17370238], [17370404, 17370541], [17370705, 17370831], [17373360, 17373799], [17375054, 17375156], [17375479, 17375605]]	[[17361033, 17361223], [17362390, 17362513], [17362719, 17362826], [17366193, 17366415], [17367279, 17367529], [17369020, 17369194], [17370097, 17370238], [17370404, 17370541], [17370705, 17370831], [17373360, 17373799], [17375054, 17375065]]
NM_031941	[[17360848, 17361223], [17362390, 17362513], [17362719, 17362826], [17366193, 17366415], [17367279, 17367529], [17369020, 17369194], [17370097, 17370238], [17370404, 17370541], [17370705, 17370831], [17373360, 17373799], [17374810, 17374959], [17375054, 17375156], [17375479, 17375544]]	[[17361033, 17361223], [17362390, 17362513], [17362719, 17362826], [17366193, 17366415], [17367279, 17367529], [17369020, 17369194], [17370097, 17370238], [17370404, 17370541], [17370705, 17370831], [17373360, 17373799], [17374810, 17374959], [17375054, 17375108]]

Promoter

Chrom	Start	End	Description
chr19	17375527	17375538	CAGE_peak_2_at_USHBP1_5end
chr19	17375541	17375588	CAGE_peak_1_at_USHBP1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I017260	17259449	17260213	0.38	[{'connected_gene': 'C19orf44', 'score': 18.61}, {'connected_gene': 'SIN3B', 'score': 13.66}, {'connected_gene': 'CHERP', 'score': 13.54}, {'connected_gene': 'ENSG00000268743', 'score': 13.31}, {'connected_gene': 'MED26', 'score': 10.85}, {'connected_gene': 'ENSG00000269095', 'score': 0.77}, {'connected_gene': 'BABAM1', 'score': 0.44}, {'connected_gene': 'USHBP1', 'score': 0.34}]
chr19	GH19I017286	17286409	17287521	0.46	[{'connected_gene': 'MRPL34', 'score': 15.93}, {'connected_gene': 'OCEL1', 'score': 13.57}, {'connected_gene': 'ABHD8', 'score': 12.12}, {'connected_gene': 'USHBP1', 'score': 0.77}, {'connected_gene': 'ANKLE1', 'score': 0.44}]
chr19	GH19I017289	17289391	17290000	0.79	[{'connected_gene': 'MRPL34', 'score': 17.89}, {'connected_gene': 'ABHD8', 'score': 12.91}, {'connected_gene': 'USHBP1', 'score': 0.44}]
chr19	GH19I017264	17264001	17269054	2.05	[{'connected_gene': 'BABAM1', 'score': 561.23}, {'connected_gene': 'ENSG00000269307', 'score': 550.77}, {'connected_gene': 'USHBP1', 'score': 550.37}, {'connected_gene': 'CHERP', 'score': 13.08}, {'connected_gene': 'ABHD8', 'score': 12.06}, {'connected_gene': 'PLVAP', 'score': 11.67}, {'connected_gene': 'F2RL3', 'score': 11.09}, {'connected_gene': 'OCEL1', 'score': 10.37}, {'connected_gene': 'GTPBP3', 'score': 8.77}, {'connected_gene': 'ENSG00000269427', 'score': 5.32}, {'connected_gene': 'ANKLE1', 'score': 4.86}, {'connected_gene': 'ENSG00000269095', 'score': 0.39}]
chr19	GH19I017259	17259135	17259404	0.2	[{'connected_gene': 'BABAM1', 'score': 8.44}, {'connected_gene': 'ABHD8', 'score': 4.61}, {'connected_gene': 'ENSG00000269095', 'score': 0.77}, {'connected_gene': 'USHBP1', 'score': 0.34}]
chr19	GH19I017239	17239839	17250193	2.3	[{'connected_gene': 'NR2F6', 'score': 568.47}, {'connected_gene': 'GC19M017243', 'score': 550.77}, {'connected_gene': 'CHERP', 'score': 26.13}, {'connected_gene': 'ENSG00000267904', 'score': 25.16}, {'connected_gene': 'MVB12A', 'score': 22.31}, {'connected_gene': 'GTPBP3', 'score': 19.74}, {'connected_gene': 'C19orf44', 'score': 15.84}, {'connected_gene': 'ENSG00000268087', 'score': 14.7}, {'connected_gene': 'OCEL1', 'score': 14.69}, {'connected_gene': 'ENSG00000268743', 'score': 12.98}, {'connected_gene': 'ENSG00000269578', 'score': 11.19}, {'connected_gene': 'FCHO1', 'score': 10.66}, {'connected_gene': 'BST2', 'score': 10.58}, {'connected_gene': 'CPAMD8', 'score': 10.53}, {'connected_gene': 'RPL18A', 'score': 10.5}, {'connected_gene': 'BABAM1', 'score': 8.33}, {'connected_gene': 'ABHD8', 'score': 8.18}, {'connected_gene': 'MRPL34', 'score': 7.11}, {'connected_gene': 'ANKLE1', 'score': 5.4}, {'connected_gene': 'ENSG00000269427', 'score': 5.04}, {'connected_gene': 'UNC13A', 'score': 4.42}, {'connected_gene': 'ENSG00000269095', 'score': 0.39}, {'connected_gene': 'USHBP1', 'score': 0.28}]
chr19	GH19I017281	17281021	17283139	1.98	[{'connected_gene': 'ANKLE1', 'score': 557.87}, {'connected_gene': 'USHBP1', 'score': 550.77}, {'connected_gene': 'MRPL34', 'score': 14.96}, {'connected_gene': 'OCEL1', 'score': 13.88}, {'connected_gene': 'ABHD8', 'score': 11.94}, {'connected_gene': 'ENSG00000269307', 'score': 0.39}, {'connected_gene': 'BABAM1', 'score': 0.39}]
chr19	GH19I017254	17254936	17255754	1.02	[{'connected_gene': 'ENSG00000269095', 'score': 550.77}, {'connected_gene': 'MVB12A', 'score': 11.47}, {'connected_gene': 'CPAMD8', 'score': 10.53}, {'connected_gene': 'BST2', 'score': 10.44}, {'connected_gene': 'GTPBP3', 'score': 8.74}, {'connected_gene': 'ABHD8', 'score': 8.42}, {'connected_gene': 'NR2F6', 'score': 6.74}, {'connected_gene': 'GC19P020254', 'score': 0.77}, {'connected_gene': 'USHBP1', 'score': 0.31}]
chr19	GH19I017261	17260472	17261366	1.65	[{'connected_gene': 'ENSG00000269578', 'score': 32.06}, {'connected_gene': 'ENSG00000267904', 'score': 28.6}, {'connected_gene': 'CHERP', 'score': 27.24}, {'connected_gene': 'MVB12A', 'score': 24.37}, {'connected_gene': 'ENSG00000268087', 'score': 22.35}, {'connected_gene': 'COLGALT1', 'score': 21.65}, {'connected_gene': 'ENSG00000268743', 'score': 20.9}, {'connected_gene': 'C19orf44', 'score': 15.84}, {'connected_gene': 'OCEL1', 'score': 12.4}, {'connected_gene': 'GTPBP3', 'score': 11.66}, {'connected_gene': 'HAUS8', 'score': 11.42}, {'connected_gene': 'RPL18A', 'score': 10.61}, {'connected_gene': 'PLVAP', 'score': 10.14}, {'connected_gene': 'BABAM1', 'score': 8.28}, {'connected_gene': 'NXNL1', 'score': 2.11}, {'connected_gene': 'ENSG00000269095', 'score': 0.44}, {'connected_gene': 'USHBP1', 'score': 0.34}]