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
ENST00000395468	[[55518348, 55518521], [55528397, 55528419], [55529335, 55530043], [55531333, 55536910]]	[[55528401, 55528419], [55529335, 55530043], [55531333, 55531345]]
ENST00000554364	[[55518364, 55518521], [55529335, 55529743]]	None
ENST00000556515	[[55518408, 55518521], [55527079, 55527500]]	None
ENST00000553976	[[55529668, 55530043], [55530569, 55530656], [55531333, 55531388]]	None
NM_144578	[[55518361, 55518521], [55528397, 55528419], [55529335, 55530043], [55531333, 55536912]]	[[55528401, 55528419], [55529335, 55530043], [55531333, 55531345]]

Promoter

Chrom	Start	End	Description
chr14	55518357	55518423	CAGE_peak_1_at_MAPK1IP1L_5end
chr14	55518430	55518441	CAGE_peak_2_at_MAPK1IP1L_5end
chr14	55529552	55529588	CAGE_peak_5_at_MAPK1IP1L_5end
chr14	55533934	55533951	CAGE_peak_3_at_MAPK1IP1L_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I055079	55079646	55079709	0.4	[{'connected_gene': 'MAPK1IP1L', 'score': 12.13}, {'connected_gene': 'GC14M055059', 'score': 0.34}, {'connected_gene': 'GC14M055058', 'score': 0.34}, {'connected_gene': 'LGALS3', 'score': 0.26}, {'connected_gene': 'GC14M054989', 'score': 0.04}]
chr14	GH14I055050	55050724	55053888	2.29	[{'connected_gene': 'MAPK1IP1L', 'score': 576.27}, {'connected_gene': 'LOC105370509', 'score': 19.0}, {'connected_gene': 'WDHD1', 'score': 15.37}, {'connected_gene': 'ATG14', 'score': 9.87}, {'connected_gene': 'GC14M055059', 'score': 0.44}, {'connected_gene': 'GC14M055058', 'score': 0.44}, {'connected_gene': 'GC14M054989', 'score': 0.03}]
chr14	GH14I055070	55070602	55079189	1.57	[{'connected_gene': 'LGALS3', 'score': 18.85}, {'connected_gene': 'LOC105370509', 'score': 18.6}, {'connected_gene': 'MAPK1IP1L', 'score': 16.83}, {'connected_gene': 'FBXO34', 'score': 5.07}, {'connected_gene': 'ATG14', 'score': 2.33}, {'connected_gene': 'GC14M055058', 'score': 0.37}, {'connected_gene': 'GC14M055059', 'score': 0.37}, {'connected_gene': 'GC14M054989', 'score': 0.03}]
chr14	GH14I055097	55097057	55109751	1.83	[{'connected_gene': 'LGALS3', 'score': 40.72}, {'connected_gene': 'LOC105370509', 'score': 34.62}, {'connected_gene': 'MAPK1IP1L', 'score': 25.39}, {'connected_gene': 'ATG14', 'score': 16.8}, {'connected_gene': 'SOCS4', 'score': 13.23}, {'connected_gene': 'GCH1', 'score': 12.33}, {'connected_gene': 'DLGAP5', 'score': 11.3}, {'connected_gene': 'FBXO34', 'score': 8.13}, {'connected_gene': 'ENSG00000259318', 'score': 5.61}, {'connected_gene': 'GC14M055058', 'score': 0.26}, {'connected_gene': 'GC14M055059', 'score': 0.26}, {'connected_gene': 'GC14M054989', 'score': 0.04}]
chr14	GH14I055113	55113140	55134826	2.73	[{'connected_gene': 'LGALS3', 'score': 578.57}, {'connected_gene': 'LOC105370509', 'score': 40.15}, {'connected_gene': 'GCH1', 'score': 11.0}, {'connected_gene': 'FBXO34', 'score': 10.91}, {'connected_gene': 'DLGAP5', 'score': 10.77}, {'connected_gene': 'ATG14', 'score': 6.91}, {'connected_gene': 'ENSG00000259318', 'score': 5.86}, {'connected_gene': 'MAPK1IP1L', 'score': 3.36}, {'connected_gene': 'GC14M055058', 'score': 0.21}, {'connected_gene': 'GC14M055059', 'score': 0.21}, {'connected_gene': 'GC14M054989', 'score': 0.05}]
chr14	GH14I054487	54487531	54491346	2.06	[{'connected_gene': 'GMFB', 'score': 550.77}, {'connected_gene': 'ATG14', 'score': 58.94}, {'connected_gene': 'BMP4', 'score': 49.13}, {'connected_gene': 'MAPK1IP1L', 'score': 26.53}, {'connected_gene': 'SOCS4', 'score': 22.61}, {'connected_gene': 'ENSG00000259318', 'score': 22.36}, {'connected_gene': 'CGRRF1', 'score': 11.85}, {'connected_gene': 'CNIH1', 'score': 11.05}, {'connected_gene': 'WDHD1', 'score': 9.89}, {'connected_gene': 'GC14P054145', 'score': 0.05}]
chr14	GH14I054900	54900413	54903631	2.01	[{'connected_gene': 'GCH1', 'score': 567.14}, {'connected_gene': 'GC14P054902', 'score': 550.77}, {'connected_gene': 'MAPK1IP1L', 'score': 22.12}, {'connected_gene': 'BMP4', 'score': 10.65}, {'connected_gene': 'ATG14', 'score': 9.85}, {'connected_gene': 'FDPSP3', 'score': 0.37}]
chr14	GH14I054848	54848034	54848155	0.24	[{'connected_gene': 'GCH1', 'score': 8.1}, {'connected_gene': 'MAPK1IP1L', 'score': 2.57}, {'connected_gene': 'FBXO34', 'score': 2.29}, {'connected_gene': 'LGALS3', 'score': 2.12}, {'connected_gene': 'GMFB', 'score': 1.94}, {'connected_gene': 'GC14P054860', 'score': 0.39}, {'connected_gene': 'PIR45415', 'score': 0.2}]
chr14	GH14I055265	55265254	55265580	0.84	[{'connected_gene': 'GCH1', 'score': 11.11}, {'connected_gene': 'FBXO34', 'score': 8.4}, {'connected_gene': 'LGALS3', 'score': 2.38}, {'connected_gene': 'MAPK1IP1L', 'score': 1.86}, {'connected_gene': 'LOC105370509', 'score': 0.44}, {'connected_gene': 'COX5AP1', 'score': 0.34}, {'connected_gene': 'GC14M054989', 'score': 0.06}]
chr14	GH14I054624	54624898	54629489	1.36	[{'connected_gene': 'GCH1', 'score': 5.0}, {'connected_gene': 'GMFB', 'score': 2.81}, {'connected_gene': 'MAPK1IP1L', 'score': 1.21}, {'connected_gene': 'SAMD4A', 'score': 0.21}, {'connected_gene': 'LOC729451', 'score': 0.21}, {'connected_gene': 'GC14P054145', 'score': 0.04}]
chr14	GH14I054908	54908102	54908771	0.9	[{'connected_gene': 'GCH1', 'score': 12.62}, {'connected_gene': 'ATG14', 'score': 4.82}, {'connected_gene': 'GMFB', 'score': 4.31}, {'connected_gene': 'LGALS3', 'score': 2.72}, {'connected_gene': 'FBXO34', 'score': 2.33}, {'connected_gene': 'MAPK1IP1L', 'score': 1.66}, {'connected_gene': 'GC14P054912', 'score': 0.77}]
chr14	GH14I054782	54782401	54786078	1.37	[{'connected_gene': 'SAMD4A', 'score': 11.58}, {'connected_gene': 'GCH1', 'score': 10.07}, {'connected_gene': 'WDHD1', 'score': 4.17}, {'connected_gene': 'GMFB', 'score': 3.02}, {'connected_gene': 'FBXO34', 'score': 2.38}, {'connected_gene': 'LGALS3', 'score': 2.23}, {'connected_gene': 'MAPK1IP1L', 'score': 1.26}, {'connected_gene': 'PIR45415', 'score': 0.44}, {'connected_gene': 'GC14P054860', 'score': 0.19}]
chr14	GH14I055501	55500463	55500612	0.76	[{'connected_gene': 'ATG14', 'score': 13.1}, {'connected_gene': 'SOCS4', 'score': 13.09}, {'connected_gene': 'MAPK1IP1L', 'score': 11.59}, {'connected_gene': 'KTN1', 'score': 10.84}, {'connected_gene': 'GC14P055500', 'score': 0.77}, {'connected_gene': 'RPL7AP4', 'score': 0.26}, {'connected_gene': 'KTN1-AS1', 'score': 0.18}, {'connected_gene': 'GC14M054989', 'score': 0.18}]
chr14	GH14I055500	55500223	55500452	0.75	[{'connected_gene': 'ATG14', 'score': 13.1}, {'connected_gene': 'SOCS4', 'score': 13.09}, {'connected_gene': 'MAPK1IP1L', 'score': 11.59}, {'connected_gene': 'KTN1', 'score': 10.84}, {'connected_gene': 'GC14P055500', 'score': 0.77}, {'connected_gene': 'RPL7AP4', 'score': 0.26}, {'connected_gene': 'KTN1-AS1', 'score': 0.18}, {'connected_gene': 'GC14M054989', 'score': 0.18}]
chr14	GH14I055410	55410800	55413391	2.02	[{'connected_gene': 'ATG14', 'score': 563.7}, {'connected_gene': 'GC14M055415', 'score': 550.77}, {'connected_gene': 'LOC105370509', 'score': 18.18}, {'connected_gene': 'SOCS4', 'score': 13.09}, {'connected_gene': 'MAPK1IP1L', 'score': 11.6}, {'connected_gene': 'GC14M054989', 'score': 0.1}]
chr14	GH14I055038	55038344	55039506	0.2	[{'connected_gene': 'SOCS4', 'score': 0.39}, {'connected_gene': 'MAPK1IP1L', 'score': 0.39}, {'connected_gene': 'GC14M054989', 'score': 0.03}]
chr14	GH14I055025	55025394	55028859	2.08	[{'connected_gene': 'SOCS4', 'score': 550.77}, {'connected_gene': 'WDHD1', 'score': 550.77}, {'connected_gene': 'MAPK1IP1L', 'score': 24.83}, {'connected_gene': 'LOC105370509', 'score': 19.12}, {'connected_gene': 'ENSG00000259318', 'score': 11.86}, {'connected_gene': 'GC14M054989', 'score': 0.03}]
chr14	GH14I055802	55802243	55808541	1.63	[{'connected_gene': 'LOC105370515', 'score': 14.62}, {'connected_gene': 'SOCS4', 'score': 13.07}, {'connected_gene': 'ATG14', 'score': 12.98}, {'connected_gene': 'MAPK1IP1L', 'score': 11.57}, {'connected_gene': 'LINC00520', 'score': 0.44}, {'connected_gene': 'PIR35523', 'score': 0.29}]
chr14	GH14I055063	55063020	55067161	0.38	[{'connected_gene': 'LOC105370509', 'score': 13.6}, {'connected_gene': 'DLGAP5', 'score': 10.84}, {'connected_gene': 'GC14M055059', 'score': 0.44}, {'connected_gene': 'GC14M055058', 'score': 0.44}, {'connected_gene': 'MAPK1IP1L', 'score': 0.39}, {'connected_gene': 'LGALS3', 'score': 0.22}, {'connected_gene': 'GC14M054989', 'score': 0.03}]
chr14	GH14I055373	55373324	55375213	1.02	[{'connected_gene': 'LOC105370509', 'score': 25.25}, {'connected_gene': 'DLGAP5', 'score': 10.6}, {'connected_gene': 'ATG14', 'score': 3.32}, {'connected_gene': 'FBXO34', 'score': 3.23}, {'connected_gene': 'MAPK1IP1L', 'score': 1.83}, {'connected_gene': 'PIR34697', 'score': 0.44}, {'connected_gene': 'PIR35307', 'score': 0.44}, {'connected_gene': 'GC14M054989', 'score': 0.08}]
chr14	GH14I055084	55084511	55086076	0.66	[{'connected_gene': 'LOC105370509', 'score': 19.66}, {'connected_gene': 'MAPK1IP1L', 'score': 11.84}, {'connected_gene': 'LGALS3', 'score': 11.58}, {'connected_gene': 'DLGAP5', 'score': 11.25}, {'connected_gene': 'GC14M055059', 'score': 0.31}, {'connected_gene': 'GC14M055058', 'score': 0.31}, {'connected_gene': 'GC14M054989', 'score': 0.04}]
chr14	GH14I055301	55301202	55305399	1.2	[{'connected_gene': 'LOC105370509', 'score': 43.57}, {'connected_gene': 'FBXO34', 'score': 12.68}, {'connected_gene': 'ENSG00000259318', 'score': 5.56}, {'connected_gene': 'GCH1', 'score': 5.11}, {'connected_gene': 'LGALS3', 'score': 3.16}, {'connected_gene': 'MAPK1IP1L', 'score': 2.52}, {'connected_gene': 'CHMP4BP1', 'score': 0.77}, {'connected_gene': 'ENSG00000258455', 'score': 0.28}, {'connected_gene': 'GC14M054989', 'score': 0.06}]
chr14	GH14I055190	55189294	55192408	1.99	[{'connected_gene': 'LOC105370508', 'score': 550.77}, {'connected_gene': 'DLGAP5', 'score': 550.77}, {'connected_gene': 'MAPK1IP1L', 'score': 30.32}, {'connected_gene': 'LOC105370509', 'score': 13.12}, {'connected_gene': 'ATG14', 'score': 12.4}, {'connected_gene': 'GCH1', 'score': 4.85}, {'connected_gene': 'LGALS3', 'score': 0.2}, {'connected_gene': 'GC14M054989', 'score': 0.05}]
chr14	GH14I054395	54395883	54398618	2.01	[{'connected_gene': 'CDKN3', 'score': 550.77}, {'connected_gene': 'MAPK1IP1L', 'score': 28.06}, {'connected_gene': 'SOCS4', 'score': 14.16}, {'connected_gene': 'WDHD1', 'score': 13.83}, {'connected_gene': 'BMP4', 'score': 11.3}, {'connected_gene': 'CNIH1', 'score': 7.68}, {'connected_gene': 'GC14P054145', 'score': 0.07}]
chr14	GH14I055382	55382025	55387273	0.94	[{'connected_gene': 'PIR34435', 'score': 550.77}, {'connected_gene': 'LOC105370509', 'score': 43.41}, {'connected_gene': 'MAPK1IP1L', 'score': 11.53}, {'connected_gene': 'ATG14', 'score': 10.95}, {'connected_gene': 'ENSG00000259318', 'score': 6.07}, {'connected_gene': 'LGALS3', 'score': 5.01}, {'connected_gene': 'PIR34697', 'score': 0.77}, {'connected_gene': 'GC14M054989', 'score': 0.08}]