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
ENST00000431388	[[79213038, 79213247], [79213367, 79213478], [79214786, 79215081]]	[[79213163, 79213247], [79213367, 79213478], [79214786, 79214816]]
ENST00000577158	[[79213104, 79213203], [79213394, 79213478], [79214786, 79214881]]	[[79213163, 79213203], [79213394, 79213426]]
ENST00000573090	[[79213110, 79213247], [79213367, 79213743], [79214786, 79215014]]	None
ENST00000576002	[[79213410, 79213482], [79214786, 79215079]]	[[79213410, 79213482], [79214786, 79214953]]
ENST00000575067	[[79213428, 79213478], [79213571, 79213698]]	None
ENST00000573173	[[79213713, 79214239], [79214786, 79214969]]	None
NM_001086521	[[79213110, 79213247], [79213367, 79213478], [79214786, 79215098]]	[[79213163, 79213247], [79213367, 79213478], [79214786, 79214816]]

Promoter

Chrom	Start	End	Description
chr17	79213095	79213106	CAGE_peak_2_at_C17orf89_5end
chr17	79213108	79213174	CAGE_peak_1_at_C17orf89_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I081254	81254231	81256108	0.98	[{'connected_gene': 'NDUFAF8', 'score': 15.16}, {'connected_gene': 'ARL16', 'score': 12.94}, {'connected_gene': 'RFNG', 'score': 10.96}, {'connected_gene': 'SLC38A10', 'score': 5.36}, {'connected_gene': 'GC17M081250', 'score': 0.77}, {'connected_gene': 'ENSG00000279187', 'score': 0.44}]
chr17	GH17I081276	81276960	81278953	0.86	[{'connected_gene': 'NDUFAF8', 'score': 14.13}, {'connected_gene': 'TMEM105', 'score': 12.01}, {'connected_gene': 'LINC00482', 'score': 12.01}, {'connected_gene': 'SLC38A10', 'score': 8.47}, {'connected_gene': 'GC17P081274', 'score': 0.77}]
chr17	GH17I081200	81200798	81201550	0.63	[{'connected_gene': 'NDUFAF8', 'score': 6.74}, {'connected_gene': 'ENSG00000262115', 'score': 0.77}, {'connected_gene': 'CEP131', 'score': 0.34}]
chr17	GH17I081238	81238109	81240710	2.01	[{'connected_gene': 'NDUFAF8', 'score': 566.38}, {'connected_gene': 'TEPSIN', 'score': 555.95}, {'connected_gene': 'GC17M081235', 'score': 550.77}, {'connected_gene': 'ALYREF', 'score': 21.37}, {'connected_gene': 'CEP131', 'score': 11.84}, {'connected_gene': 'NPLOC4', 'score': 11.0}, {'connected_gene': 'HGS', 'score': 10.45}, {'connected_gene': 'SLC38A10', 'score': 8.74}]
chr17	GH17I081170	81170856	81172051	0.49	[{'connected_gene': 'CEP131', 'score': 5.26}, {'connected_gene': 'NDUFAF8', 'score': 5.13}, {'connected_gene': 'PVALEF', 'score': 0.44}, {'connected_gene': 'AATK', 'score': 0.44}, {'connected_gene': 'ENSG00000262115', 'score': 0.31}]
chr17	GH17I081221	81221695	81224220	2.03	[{'connected_gene': 'CEP131', 'score': 577.19}, {'connected_gene': 'ALYREF', 'score': 50.85}, {'connected_gene': 'HGS', 'score': 45.26}, {'connected_gene': 'TEPSIN', 'score': 37.88}, {'connected_gene': 'OXLD1', 'score': 14.44}, {'connected_gene': 'FAAP100', 'score': 14.19}, {'connected_gene': 'ACTG1', 'score': 12.9}, {'connected_gene': 'ENSG00000265678', 'score': 12.13}, {'connected_gene': 'DUS1L', 'score': 11.93}, {'connected_gene': 'CHMP6', 'score': 11.82}, {'connected_gene': 'CCDC137', 'score': 11.61}, {'connected_gene': 'ARHGDIA', 'score': 11.04}, {'connected_gene': 'LOC105371925', 'score': 11.02}, {'connected_gene': 'ENSG00000264769', 'score': 10.86}, {'connected_gene': 'NPLOC4', 'score': 9.68}, {'connected_gene': 'NDUFAF8', 'score': 8.91}, {'connected_gene': 'ENSG00000262115', 'score': 0.31}]
chr17	GH17I081304	81304221	81305226	0.59	[{'connected_gene': 'SLC38A10', 'score': 21.9}, {'connected_gene': 'NDUFAF8', 'score': 11.05}, {'connected_gene': 'FAAP100', 'score': 10.88}, {'connected_gene': 'ENSG00000260563', 'score': 10.79}, {'connected_gene': 'TMEM105', 'score': 9.19}, {'connected_gene': 'LINC00482', 'score': 0.77}]
chr17	GH17I081294	81294091	81296770	2.25	[{'connected_gene': 'SLC38A10', 'score': 588.55}, {'connected_gene': 'NDUFAF8', 'score': 12.73}, {'connected_gene': 'CSNK1D', 'score': 12.6}, {'connected_gene': 'FAAP100', 'score': 12.46}, {'connected_gene': 'TEPSIN', 'score': 11.77}, {'connected_gene': 'ENSG00000260563', 'score': 11.37}, {'connected_gene': 'ENSG00000265678', 'score': 10.5}, {'connected_gene': 'HGS', 'score': 9.9}, {'connected_gene': 'GC17P081274', 'score': 0.34}]
chr17	GH17I081228	81228291	81229240	0.79	[{'connected_gene': 'LOC105371925', 'score': 550.77}, {'connected_gene': 'NDUFAF8', 'score': 8.68}, {'connected_gene': 'MRPL12', 'score': 5.72}, {'connected_gene': 'TEPSIN', 'score': 0.39}]
chr17	GH17I081336	81336563	81347323	2.12	[{'connected_gene': 'GC17M081340', 'score': 550.77}, {'connected_gene': 'GC17P081340', 'score': 550.77}, {'connected_gene': 'FAAP100', 'score': 33.45}, {'connected_gene': 'RFNG', 'score': 30.49}, {'connected_gene': 'TMEM105', 'score': 26.34}, {'connected_gene': 'DUS1L', 'score': 25.66}, {'connected_gene': 'HGS', 'score': 23.26}, {'connected_gene': 'ENSG00000265678', 'score': 22.13}, {'connected_gene': 'LINC00482', 'score': 17.77}, {'connected_gene': 'TEPSIN', 'score': 13.94}, {'connected_gene': 'ENDOV', 'score': 13.64}, {'connected_gene': 'CEP131', 'score': 13.64}, {'connected_gene': 'ENSG00000260563', 'score': 13.14}, {'connected_gene': 'TSPAN10', 'score': 12.9}, {'connected_gene': 'SLC38A10', 'score': 12.89}, {'connected_gene': 'ARL16', 'score': 12.12}, {'connected_gene': 'ENSG00000262877', 'score': 11.82}, {'connected_gene': 'ENSG00000260369', 'score': 11.76}, {'connected_gene': 'CSNK1D', 'score': 11.36}, {'connected_gene': 'CCDC57', 'score': 11.26}, {'connected_gene': 'ENSG00000229848', 'score': 10.67}, {'connected_gene': 'NDUFAF8', 'score': 5.4}, {'connected_gene': 'MCRIP1', 'score': 5.35}, {'connected_gene': 'ACTG1', 'score': 4.02}, {'connected_gene': 'CHMP6', 'score': 3.92}, {'connected_gene': 'BAHCC1', 'score': 2.97}, {'connected_gene': 'MRPL12', 'score': 2.2}, {'connected_gene': 'PPP1R27', 'score': 2.0}, {'connected_gene': 'OXLD1', 'score': 1.98}, {'connected_gene': 'AATK', 'score': 1.41}, {'connected_gene': 'GC17M081346', 'score': 0.77}, {'connected_gene': 'ENSG00000275542', 'score': 0.77}, {'connected_gene': 'ENSG00000275966', 'score': 0.77}]
chr17	GH17I081272	81272801	81273000	0.66	[{'connected_gene': 'GC17P081274', 'score': 550.77}, {'connected_gene': 'NDUFAF8', 'score': 15.09}, {'connected_gene': 'TMEM105', 'score': 11.6}, {'connected_gene': 'SLC38A10', 'score': 7.34}, {'connected_gene': 'ENSG00000279187', 'score': 0.44}]
chr17	GH17I081250	81250607	81253590	1.03	[{'connected_gene': 'GC17M081250', 'score': 550.77}, {'connected_gene': 'ENSG00000276101', 'score': 550.77}, {'connected_gene': 'TEPSIN', 'score': 62.61}, {'connected_gene': 'ALYREF', 'score': 54.6}, {'connected_gene': 'FAAP100', 'score': 49.22}, {'connected_gene': 'HGS', 'score': 46.41}, {'connected_gene': 'CEP131', 'score': 40.89}, {'connected_gene': 'ENSG00000265678', 'score': 40.37}, {'connected_gene': 'ENSG00000262877', 'score': 33.69}, {'connected_gene': 'ENSG00000260369', 'score': 32.36}, {'connected_gene': 'SLC38A10', 'score': 27.2}, {'connected_gene': 'DUS1L', 'score': 23.63}, {'connected_gene': 'GPS1', 'score': 22.58}, {'connected_gene': 'CCDC57', 'score': 20.87}, {'connected_gene': 'ENDOV', 'score': 20.87}, {'connected_gene': 'CHMP6', 'score': 18.63}, {'connected_gene': 'NDUFAF8', 'score': 15.19}, {'connected_gene': 'LOC100130370', 'score': 10.5}, {'connected_gene': 'ENSG00000264548', 'score': 10.27}, {'connected_gene': 'RFNG', 'score': 9.9}, {'connected_gene': 'CCDC137', 'score': 9.82}]