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

Promoter

Chrom	Start	End	Description
chr17	79980742	79980773	CAGE_peak_1_at_STRA13_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I082030	82030065	82032614	2	[{'connected_gene': 'RAC3', 'score': 550.77}, {'connected_gene': 'DCXR', 'score': 17.33}, {'connected_gene': 'CENPX', 'score': 5.77}, {'connected_gene': 'GCGR', 'score': 4.83}, {'connected_gene': 'LRRC45', 'score': 0.44}]
chr17	GH17I081999	81999679	82001956	1.12	[{'connected_gene': 'ASPSCR1', 'score': 17.21}, {'connected_gene': 'CENPX', 'score': 5.49}, {'connected_gene': 'GC17P081992', 'score': 0.44}, {'connected_gene': 'PIR31721', 'score': 0.44}]
chr17	GH17I082064	82064500	82066850	2.08	[{'connected_gene': 'DUS1L', 'score': 561.23}, {'connected_gene': 'PIR58356', 'score': 550.77}, {'connected_gene': 'ENSG00000263321', 'score': 24.05}, {'connected_gene': 'TBCD', 'score': 21.61}, {'connected_gene': 'ENSG00000262877', 'score': 20.09}, {'connected_gene': 'GPS1', 'score': 20.01}, {'connected_gene': 'OGFOD3', 'score': 13.3}, {'connected_gene': 'CCDC57', 'score': 12.56}, {'connected_gene': 'ENSG00000265678', 'score': 12.25}, {'connected_gene': 'FAAP100', 'score': 12.1}, {'connected_gene': 'LOC100130370', 'score': 10.41}, {'connected_gene': 'ENSG00000264548', 'score': 10.35}, {'connected_gene': 'ENSG00000262410', 'score': 10.03}, {'connected_gene': 'FN3KRP', 'score': 9.82}, {'connected_gene': 'CEP131', 'score': 9.75}, {'connected_gene': 'CENPX', 'score': 8.5}, {'connected_gene': 'DCXR', 'score': 6.1}]
chr17	GH17I081384	81384889	81407318	2.9	[{'connected_gene': 'BAHCC1', 'score': 553.85}, {'connected_gene': 'ENSG00000279692', 'score': 550.77}, {'connected_gene': 'ENSG00000262877', 'score': 64.36}, {'connected_gene': 'CEP131', 'score': 38.72}, {'connected_gene': 'GPS1', 'score': 28.59}, {'connected_gene': 'HGS', 'score': 26.75}, {'connected_gene': 'ENSG00000260011', 'score': 25.34}, {'connected_gene': 'FAAP100', 'score': 25.14}, {'connected_gene': 'ENSG00000260369', 'score': 24.42}, {'connected_gene': 'ENSG00000265678', 'score': 22.9}, {'connected_gene': 'ARL16', 'score': 22.63}, {'connected_gene': 'CCDC57', 'score': 20.61}, {'connected_gene': 'RFNG', 'score': 18.81}, {'connected_gene': 'ENSG00000260563', 'score': 16.03}, {'connected_gene': 'TEPSIN', 'score': 15.05}, {'connected_gene': 'ENDOV', 'score': 13.64}, {'connected_gene': 'ALYREF', 'score': 13.42}, {'connected_gene': 'CSNK1D', 'score': 12.86}, {'connected_gene': 'TSPAN10', 'score': 12.34}, {'connected_gene': 'TMEM105', 'score': 12.24}, {'connected_gene': 'ASPSCR1', 'score': 11.08}, {'connected_gene': 'DUS1L', 'score': 10.87}, {'connected_gene': 'LOC100130370', 'score': 10.82}, {'connected_gene': 'CHMP6', 'score': 10.61}, {'connected_gene': 'SLC38A10', 'score': 10.53}, {'connected_gene': 'LINC01970', 'score': 10.33}, {'connected_gene': 'ENSG00000264548', 'score': 10.27}, {'connected_gene': 'ENSG00000264569', 'score': 9.82}, {'connected_gene': 'CENPX', 'score': 5.19}, {'connected_gene': 'CCDC137', 'score': 4.79}, {'connected_gene': 'PPP1R27', 'score': 4.62}, {'connected_gene': 'ARHGDIA', 'score': 1.35}, {'connected_gene': 'MIR4740', 'score': 0.77}, {'connected_gene': 'GC17M081387', 'score': 0.77}, {'connected_gene': 'GC17M081389', 'score': 0.44}, {'connected_gene': 'ENSG00000274833', 'score': 0.44}]
chr17	GH17I082011	82011826	82015089	0.76	[{'connected_gene': 'CENPX', 'score': 33.56}, {'connected_gene': 'DCXR', 'score': 12.23}, {'connected_gene': 'ASPSCR1', 'score': 12.11}, {'connected_gene': 'MYADML2', 'score': 12.01}, {'connected_gene': 'ENSG00000235296', 'score': 12.0}, {'connected_gene': 'PYCR1', 'score': 12.0}, {'connected_gene': 'MAFG', 'score': 11.98}, {'connected_gene': 'SIRT7', 'score': 11.96}, {'connected_gene': 'PCYT2', 'score': 11.54}, {'connected_gene': 'NPB', 'score': 11.52}, {'connected_gene': 'ANAPC11', 'score': 11.51}, {'connected_gene': 'ALYREF', 'score': 11.51}, {'connected_gene': 'PIR31721', 'score': 0.77}, {'connected_gene': 'GC17M082012', 'score': 0.44}]
chr17	GH17I082021	82021208	82024422	2.25	[{'connected_gene': 'CENPX', 'score': 585.77}, {'connected_gene': 'LRRC45', 'score': 550.77}, {'connected_gene': 'HGS', 'score': 22.92}, {'connected_gene': 'ALYREF', 'score': 21.46}, {'connected_gene': 'FOXK2', 'score': 20.73}, {'connected_gene': 'CEP131', 'score': 19.66}, {'connected_gene': 'LOC105371942', 'score': 17.7}, {'connected_gene': 'DCXR', 'score': 16.6}, {'connected_gene': 'FAAP100', 'score': 13.14}, {'connected_gene': 'ENSG00000265678', 'score': 12.91}, {'connected_gene': 'TBCD', 'score': 12.89}, {'connected_gene': 'OGFOD3', 'score': 12.22}, {'connected_gene': 'NARF-IT1', 'score': 11.91}, {'connected_gene': 'ARL2BPP9', 'score': 11.72}, {'connected_gene': 'ENSG00000262652', 'score': 11.71}, {'connected_gene': 'ENSG00000262663', 'score': 11.65}, {'connected_gene': 'TEPSIN', 'score': 10.63}, {'connected_gene': 'RFNG', 'score': 10.44}, {'connected_gene': 'HEXDC', 'score': 10.43}, {'connected_gene': 'CSNK1D', 'score': 10.36}, {'connected_gene': 'ENSG00000260563', 'score': 10.31}, {'connected_gene': 'CCDC57', 'score': 10.23}, {'connected_gene': 'ENSG00000262410', 'score': 4.91}, {'connected_gene': 'GC17M082012', 'score': 0.77}]
chr17	GH17I081958	81958752	81963914	1.87	[{'connected_gene': 'NOTUM', 'score': 550.77}, {'connected_gene': 'ASPSCR1', 'score': 14.36}, {'connected_gene': 'HGS', 'score': 14.29}, {'connected_gene': 'MYADML2', 'score': 13.67}, {'connected_gene': 'FAAP100', 'score': 13.15}, {'connected_gene': 'TBCD', 'score': 12.89}, {'connected_gene': 'ENSG00000265678', 'score': 12.87}, {'connected_gene': 'OGFOD3', 'score': 12.22}, {'connected_gene': 'NARF-IT1', 'score': 11.9}, {'connected_gene': 'ARL2BPP9', 'score': 11.71}, {'connected_gene': 'ENSG00000262652', 'score': 11.71}, {'connected_gene': 'ENSG00000262663', 'score': 11.65}, {'connected_gene': 'TEPSIN', 'score': 10.63}, {'connected_gene': 'HEXDC', 'score': 10.43}, {'connected_gene': 'CSNK1D', 'score': 10.35}, {'connected_gene': 'ENSG00000260563', 'score': 10.3}, {'connected_gene': 'RFNG', 'score': 10.28}, {'connected_gene': 'CCDC57', 'score': 10.21}, {'connected_gene': 'CEP131', 'score': 9.89}, {'connected_gene': 'CENPX', 'score': 9.05}]
chr17	GH17I082019	82019945	82020498	0.85	[{'connected_gene': 'GC17M082012', 'score': 550.77}, {'connected_gene': 'DCXR', 'score': 16.52}, {'connected_gene': 'CENPX', 'score': 0.77}, {'connected_gene': 'LRRC45', 'score': 0.77}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000579520	[[79976577, 79977095], [79977168, 79977257], [79977733, 79977785], [79981940, 79981983]]	[[79977080, 79977095], [79977168, 79977257], [79977733, 79977785], [79981940, 79981983]]
ENST00000584600	[[79976578, 79977095], [79977183, 79977257], [79977516, 79977570], [79977733, 79977785], [79980701, 79980734]]	[[79977080, 79977095], [79977183, 79977257], [79977516, 79977570], [79977733, 79977785], [79980701, 79980734]]
ENST00000580435	[[79976578, 79977095], [79977183, 79977257], [79977733, 79977785], [79980701, 79980768]]	[[79977080, 79977095], [79977183, 79977257], [79977733, 79977785], [79980701, 79980737]]
ENST00000392359	[[79976578, 79977095], [79977168, 79977257], [79977516, 79977570], [79977733, 79977785], [79980701, 79980794]]	[[79977080, 79977095], [79977168, 79977257], [79977516, 79977570], [79977733, 79977785], [79980701, 79980737]]
ENST00000306704	[[79976578, 79977095], [79977168, 79977257], [79977733, 79977785], [79980701, 79980794]]	[[79977080, 79977095], [79977168, 79977257], [79977733, 79977785], [79980701, 79980737]]
ENST00000584514	[[79976591, 79977095], [79977168, 79977257], [79977516, 79977570], [79977733, 79977785], [79980514, 79980697]]	None
ENST00000584347	[[79976676, 79977095], [79977168, 79977257], [79977385, 79977570], [79977733, 79977785], [79980701, 79980755]]	[[79977061, 79977095], [79977168, 79977257], [79977385, 79977570], [79977733, 79977785], [79980701, 79980737]]
ENST00000577379	[[79976713, 79977257], [79977516, 79977570], [79977733, 79977785], [79980514, 79980725]]	None
ENST00000580090	[[79976719, 79977095], [79977168, 79977257], [79977733, 79977785], [79980514, 79980749]]	None
ENST00000583767	[[79976741, 79977095], [79977168, 79977257], [79977385, 79977570], [79977733, 79977785], [79980514, 79980728]]	None
ENST00000585091	[[79977032, 79977095], [79977168, 79977785], [79980701, 79980760]]	None
NM_001271006	[[79976578, 79977095], [79977168, 79977257], [79977516, 79977570], [79977733, 79977785], [79980701, 79980785]]	[[79977080, 79977095], [79977168, 79977257], [79977516, 79977570], [79977733, 79977785], [79980701, 79980737]]
NM_144998	[[79976578, 79977095], [79977168, 79977257], [79977733, 79977785], [79980701, 79980785]]	[[79977080, 79977095], [79977168, 79977257], [79977733, 79977785], [79980701, 79980737]]
NM_001271007	[[79976578, 79977095], [79977183, 79977257], [79977733, 79977785], [79980701, 79980785]]	[[79977080, 79977095], [79977183, 79977257], [79977733, 79977785], [79980701, 79980737]]
NM_001330536	[[79976578, 79977095], [79977168, 79977257], [79977385, 79977570], [79977733, 79977785], [79980701, 79980794]]	[[79977061, 79977095], [79977168, 79977257], [79977385, 79977570], [79977733, 79977785], [79980701, 79980737]]