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
ENST00000378449	[[33474835, 33474929], [33475279, 33475450], [33475991, 33476028], [33477066, 33477242], [33479911, 33480001], [33481592, 33481760], [33482314, 33482483], [33486393, 33486564], [33491013, 33491185], [33495079, 33495380], [33498340, 33498481], [33501260, 33501388], [33502986, 33503053], [33504035, 33504149], [33504513, 33504629], [33507577, 33507695], [33510445, 33510601], [33513317, 33516360]]	[[33475282, 33475450], [33475991, 33476028], [33477066, 33477242], [33479911, 33480001], [33481592, 33481760], [33482314, 33482483], [33486393, 33486564], [33491013, 33491185], [33495079, 33495380], [33498340, 33498481], [33501260, 33501388], [33502986, 33503053], [33504035, 33504149], [33504513, 33504629], [33507577, 33507695], [33510445, 33510601], [33513317, 33513578]]
ENST00000433649	[[33474835, 33474929], [33475279, 33475450], [33475991, 33476028], [33477066, 33477242], [33479911, 33480001], [33481592, 33481760], [33482314, 33482483], [33486393, 33486564], [33491013, 33491185], [33495079, 33495380], [33496855, 33496950], [33497132, 33497274], [33498340, 33498481], [33501260, 33501388], [33502986, 33503053], [33504035, 33504149], [33504513, 33504629], [33507577, 33507695], [33510445, 33510601], [33513317, 33516360]]	[[33475282, 33475450], [33475991, 33476028], [33477066, 33477242], [33479911, 33480001], [33481592, 33481760], [33482314, 33482483], [33486393, 33486564], [33491013, 33491185], [33495079, 33495380], [33496855, 33496950], [33497132, 33497274], [33498340, 33498481], [33501260, 33501388], [33502986, 33503053], [33504035, 33504149], [33504513, 33504629], [33507577, 33507695], [33510445, 33510601], [33513317, 33513578]]
ENST00000268876	[[33474835, 33474929], [33475279, 33475450], [33475991, 33476028], [33477066, 33477242], [33479911, 33480001], [33481592, 33481760], [33482314, 33482483], [33486393, 33486564], [33491013, 33491185], [33495079, 33495380], [33496855, 33496950], [33497132, 33497280], [33498340, 33498481], [33501260, 33501388], [33502986, 33503053], [33504035, 33504149], [33504513, 33504629], [33507577, 33507695], [33510445, 33510601], [33513317, 33516364]]	[[33475282, 33475450], [33475991, 33476028], [33477066, 33477242], [33479911, 33480001], [33481592, 33481760], [33482314, 33482483], [33486393, 33486564], [33491013, 33491185], [33495079, 33495380], [33496855, 33496950], [33497132, 33497280], [33498340, 33498481], [33501260, 33501388], [33502986, 33503053], [33504035, 33504149], [33504513, 33504629], [33507577, 33507695], [33510445, 33510601], [33513317, 33513578]]
ENST00000394570	[[33474859, 33474929], [33475282, 33475450], [33475991, 33476028], [33477066, 33477242], [33479911, 33480001], [33481592, 33481760], [33482314, 33482483], [33486393, 33486564], [33491013, 33491185], [33495079, 33495380], [33496855, 33496950], [33497132, 33497274], [33498340, 33498481], [33501260, 33501388], [33502986, 33503053], [33504035, 33504149], [33504513, 33504629], [33507577, 33507695], [33510445, 33510601], [33513317, 33516356]]	[[33475282, 33475450], [33475991, 33476028], [33477066, 33477242], [33479911, 33480001], [33481592, 33481760], [33482314, 33482483], [33486393, 33486564], [33491013, 33491185], [33495079, 33495380], [33496855, 33496950], [33497132, 33497274], [33498340, 33498481], [33501260, 33501388], [33502986, 33503053], [33504035, 33504149], [33504513, 33504629], [33507577, 33507695], [33510445, 33510601], [33513317, 33513578]]
ENST00000591048	[[33475282, 33475450], [33475991, 33476028], [33477066, 33477242], [33479911, 33480001], [33481592, 33481760], [33482314, 33482483], [33486393, 33486564], [33491013, 33491185], [33495079, 33495380], [33498340, 33498481], [33501260, 33501388], [33502986, 33503053], [33504035, 33504149], [33504513, 33504629], [33507577, 33507695], [33510445, 33510601], [33513317, 33513578]]	[[33475282, 33475450], [33475991, 33476028], [33477066, 33477242], [33479911, 33480001], [33481592, 33481760], [33482314, 33482483], [33486393, 33486564], [33491013, 33491185], [33495079, 33495380], [33498340, 33498481], [33501260, 33501388], [33502986, 33503053], [33504035, 33504149], [33504513, 33504629], [33507577, 33507695], [33510445, 33510601], [33513317, 33513578]]
NM_001267052	[[33474835, 33474929], [33475282, 33475450], [33475991, 33476028], [33477066, 33477242], [33479911, 33480001], [33481592, 33481760], [33482314, 33482483], [33486393, 33486564], [33491013, 33491185], [33495079, 33495380], [33496855, 33496950], [33497132, 33497274], [33498340, 33498481], [33501260, 33501388], [33502986, 33503053], [33504035, 33504149], [33504513, 33504629], [33507577, 33507695], [33510445, 33510601], [33513317, 33516364]]	[[33475282, 33475450], [33475991, 33476028], [33477066, 33477242], [33479911, 33480001], [33481592, 33481760], [33482314, 33482483], [33486393, 33486564], [33491013, 33491185], [33495079, 33495380], [33496855, 33496950], [33497132, 33497274], [33498340, 33498481], [33501260, 33501388], [33502986, 33503053], [33504035, 33504149], [33504513, 33504629], [33507577, 33507695], [33510445, 33510601], [33513317, 33513578]]
NM_001033576	[[33474835, 33474929], [33475279, 33475450], [33475991, 33476028], [33477066, 33477242], [33479911, 33480001], [33481592, 33481760], [33482314, 33482483], [33486393, 33486564], [33491013, 33491185], [33495079, 33495380], [33496855, 33496950], [33497132, 33497274], [33498340, 33498481], [33501260, 33501388], [33502986, 33503053], [33504035, 33504149], [33504513, 33504629], [33507577, 33507695], [33510445, 33510601], [33513317, 33516364]]	[[33475282, 33475450], [33475991, 33476028], [33477066, 33477242], [33479911, 33480001], [33481592, 33481760], [33482314, 33482483], [33486393, 33486564], [33491013, 33491185], [33495079, 33495380], [33496855, 33496950], [33497132, 33497274], [33498340, 33498481], [33501260, 33501388], [33502986, 33503053], [33504035, 33504149], [33504513, 33504629], [33507577, 33507695], [33510445, 33510601], [33513317, 33513578]]
NM_001308281	[[33475282, 33475450], [33475991, 33476028], [33477066, 33477242], [33479911, 33480001], [33481592, 33481760], [33482314, 33482483], [33486393, 33486564], [33491013, 33491185], [33495079, 33495380], [33498340, 33498481], [33501260, 33501388], [33502986, 33503053], [33504035, 33504149], [33504513, 33504629], [33507577, 33507695], [33510445, 33510601], [33513317, 33516364]]	[[33475282, 33475450], [33475991, 33476028], [33477066, 33477242], [33479911, 33480001], [33481592, 33481760], [33482314, 33482483], [33486393, 33486564], [33491013, 33491185], [33495079, 33495380], [33498340, 33498481], [33501260, 33501388], [33502986, 33503053], [33504035, 33504149], [33504513, 33504629], [33507577, 33507695], [33510445, 33510601], [33513317, 33513578]]
NM_173167	[[33475282, 33475450], [33475991, 33476028], [33477066, 33477242], [33479911, 33480001], [33481592, 33481760], [33482314, 33482483], [33486393, 33486564], [33491013, 33491185], [33495079, 33495380], [33496855, 33496950], [33497132, 33497280], [33498340, 33498481], [33501260, 33501388], [33502986, 33503053], [33504035, 33504149], [33504513, 33504629], [33507577, 33507695], [33510445, 33510601], [33513317, 33516364]]	[[33475282, 33475450], [33475991, 33476028], [33477066, 33477242], [33479911, 33480001], [33481592, 33481760], [33482314, 33482483], [33486393, 33486564], [33491013, 33491185], [33495079, 33495380], [33496855, 33496950], [33497132, 33497280], [33498340, 33498481], [33501260, 33501388], [33502986, 33503053], [33504035, 33504149], [33504513, 33504629], [33507577, 33507695], [33510445, 33510601], [33513317, 33513578]]

Promoter

Chrom	Start	End	Description
chr17	33474826	33474842	CAGE_peak_1_at_UNC45B_5end
chr17	33474868	33474871	CAGE_peak_2_at_UNC45B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I035176	35176992	35178237	0.2	[{'connected_gene': 'NLE1', 'score': 25.33}, {'connected_gene': 'SLFN5', 'score': 18.2}, {'connected_gene': 'UNC45B', 'score': 11.87}, {'connected_gene': 'SLFN12L', 'score': 11.12}, {'connected_gene': 'SLFN13', 'score': 10.23}, {'connected_gene': 'RNU6-840P', 'score': 9.29}, {'connected_gene': 'GC17M035176', 'score': 0.77}, {'connected_gene': 'GC17M035166', 'score': 0.44}]
chr17	GH17I035172	35171542	35172400	0.83	[{'connected_gene': 'NLE1', 'score': 24.08}, {'connected_gene': 'SLFN5', 'score': 11.04}, {'connected_gene': 'SLFN12L', 'score': 11.01}, {'connected_gene': 'GC17M035166', 'score': 0.77}, {'connected_gene': 'GC17M035176', 'score': 0.44}, {'connected_gene': 'UNC45B', 'score': 0.34}]
chr17	GH17I035171	35171322	35171471	0.31	[{'connected_gene': 'NLE1', 'score': 11.48}, {'connected_gene': 'SLFN5', 'score': 11.04}, {'connected_gene': 'SLFN12L', 'score': 11.01}, {'connected_gene': 'GC17M035166', 'score': 0.77}, {'connected_gene': 'GC17M035176', 'score': 0.44}, {'connected_gene': 'UNC45B', 'score': 0.34}]
chr17	GH17I035212	35212408	35217774	1.22	[{'connected_gene': 'SLFN5', 'score': 44.27}, {'connected_gene': 'NLE1', 'score': 21.6}, {'connected_gene': 'SLFN12L', 'score': 18.03}, {'connected_gene': 'AP2B1', 'score': 10.73}, {'connected_gene': 'LINC02001', 'score': 10.71}, {'connected_gene': 'UNC45B', 'score': 10.66}, {'connected_gene': 'ZNF830', 'score': 2.27}, {'connected_gene': 'SLC35G3', 'score': 0.34}]
chr17	GH17I035217	35217822	35219925	0.83	[{'connected_gene': 'SLFN5', 'score': 20.42}, {'connected_gene': 'UNC45B', 'score': 10.44}, {'connected_gene': 'NLE1', 'score': 10.43}, {'connected_gene': 'SLFN12L', 'score': 9.92}, {'connected_gene': 'SLC35G3', 'score': 0.34}]
chr17	GH17I035185	35185917	35186075	0.55	[{'connected_gene': 'SLFN5', 'score': 15.06}, {'connected_gene': 'UNC45B', 'score': 11.42}, {'connected_gene': 'NLE1', 'score': 11.41}, {'connected_gene': 'SLFN12L', 'score': 10.7}, {'connected_gene': 'RFFL', 'score': 5.51}, {'connected_gene': 'ENSG00000266981', 'score': 0.77}, {'connected_gene': 'GC17M035176', 'score': 0.44}]
chr17	GH17I035241	35241039	35246757	2.21	[{'connected_gene': 'SLFN5', 'score': 595.52}, {'connected_gene': 'LOC105371932', 'score': 550.77}, {'connected_gene': 'UNC45B', 'score': 7.73}, {'connected_gene': 'NLE1', 'score': 7.59}]
chr17	GH17I035146	35146206	35149125	0.93	[{'connected_gene': 'UNC45B', 'score': 550.77}, {'connected_gene': 'NLE1', 'score': 10.97}, {'connected_gene': 'SLFN12L', 'score': 10.38}, {'connected_gene': 'LIG3', 'score': 8.87}, {'connected_gene': 'RFFL', 'score': 5.52}]
chr17	GH17I035160	35160038	35163024	0.74	[{'connected_gene': 'LIG3', 'score': 8.89}, {'connected_gene': 'CCT6B', 'score': 6.84}, {'connected_gene': 'SLFN5', 'score': 5.02}, {'connected_gene': 'SLFN12L', 'score': 4.27}, {'connected_gene': 'ZNF830', 'score': 2.34}, {'connected_gene': 'ENSG00000267782', 'score': 0.44}, {'connected_gene': 'UNC45B', 'score': 0.39}]
chr17	GH17I035150	35150958	35151791	0.2	[{'connected_gene': 'SLFN12L', 'score': 10.38}, {'connected_gene': 'MMP28', 'score': 4.13}, {'connected_gene': 'UNC45B', 'score': 0.77}, {'connected_gene': 'ENSG00000267782', 'score': 0.37}]
chr17	GH17I035187	35187802	35189775	0.52	[{'connected_gene': 'ENSG00000266981', 'score': 550.77}, {'connected_gene': 'SLFN5', 'score': 19.93}, {'connected_gene': 'UNC45B', 'score': 11.41}, {'connected_gene': 'NLE1', 'score': 11.39}, {'connected_gene': 'SLFN12L', 'score': 10.7}, {'connected_gene': 'LOC100130114', 'score': 0.77}]