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
ENST00000296474	[[49924434, 49924995], [49927356, 49927493], [49927917, 49928083], [49928629, 49928739], [49928831, 49929013], [49929190, 49929271], [49932599, 49932806], [49932879, 49932981], [49933147, 49933313], [49933393, 49933540], [49933627, 49933837], [49933972, 49934066], [49934161, 49934323], [49934712, 49934849], [49934952, 49935118], [49935483, 49935644], [49935950, 49936121], [49936299, 49936428], [49936507, 49936696], [49939812, 49941070]]	[[49924739, 49924995], [49927356, 49927493], [49927917, 49928083], [49928629, 49928739], [49928831, 49929013], [49929190, 49929271], [49932599, 49932806], [49932879, 49932981], [49933147, 49933313], [49933393, 49933540], [49933627, 49933837], [49933972, 49934066], [49934161, 49934323], [49934712, 49934849], [49934952, 49935118], [49935483, 49935644], [49935950, 49936121], [49936299, 49936428], [49936507, 49936696], [49939812, 49941042]]
ENST00000411578	[[49924437, 49924995], [49927356, 49927493], [49927917, 49928083], [49928629, 49928739], [49928831, 49929013], [49929190, 49929271], [49932599, 49932829], [49933147, 49933313], [49933393, 49933540], [49933627, 49933837], [49933972, 49934066], [49934161, 49934323], [49934712, 49934849], [49934952, 49935118], [49935483, 49935644], [49935950, 49936121], [49936299, 49936428], [49936507, 49936696], [49939812, 49941299]]	[[49932692, 49932829], [49933147, 49933313], [49933393, 49933540], [49933627, 49933837], [49933972, 49934066], [49934161, 49934323], [49934712, 49934849], [49934952, 49935118], [49935483, 49935644], [49935950, 49936121], [49936299, 49936428], [49936507, 49936696], [49939812, 49941042]]
ENST00000344206	[[49924597, 49924995], [49927356, 49927493], [49927917, 49928083], [49928629, 49928739], [49928831, 49929013], [49929190, 49929271], [49932599, 49932806], [49932879, 49932981], [49933147, 49933313], [49933627, 49933837], [49933972, 49934066], [49934161, 49934323], [49934712, 49934849], [49934952, 49935118], [49935483, 49935644], [49935950, 49936121], [49936299, 49936428], [49936507, 49936696], [49939812, 49941042]]	[[49924739, 49924995], [49927356, 49927493], [49927917, 49928083], [49928629, 49928739], [49928831, 49929013], [49929190, 49929271], [49932599, 49932806], [49932879, 49932981], [49933147, 49933313], [49933627, 49933837], [49933972, 49934066], [49934161, 49934323], [49934712, 49934849], [49934952, 49935118], [49935483, 49935644], [49935950, 49936121], [49936299, 49936428], [49936507, 49936696], [49939812, 49941042]]
ENST00000468525	[[49933552, 49933840], [49933972, 49934066], [49934161, 49934323], [49934712, 49934849], [49934952, 49935118], [49935483, 49935644], [49935950, 49936121], [49936299, 49936428], [49936507, 49936696], [49939812, 49941042]]	None
ENST00000493535	[[49935419, 49935644], [49935950, 49936121], [49939812, 49941042]]	None
ENST00000485044	[[49935419, 49935644], [49935950, 49936121], [49936299, 49936428], [49936507, 49936696], [49939812, 49941042]]	None
ENST00000497001	[[49936438, 49936696], [49939812, 49941042]]	None
ENST00000434765	[[49927382, 49927493], [49927917, 49928083], [49928629, 49928739], [49928831, 49929013], [49929190, 49929271], [49932879, 49932981], [49933147, 49933249]]	[[49927382, 49927493], [49927917, 49928083], [49928629, 49928739], [49928831, 49929013], [49929190, 49929271], [49932879, 49932981], [49933147, 49933249]]
ENST00000440292	[[49927979, 49928083], [49928629, 49928739], [49928831, 49929013], [49929190, 49929271], [49932599, 49932806], [49933300, 49933313], [49933393, 49933506]]	[[49927979, 49928083], [49928629, 49928739], [49928831, 49929013], [49929190, 49929271], [49932599, 49932806], [49933300, 49933313], [49933393, 49933506]]
ENST00000463789	[[49928002, 49928083], [49928629, 49928739], [49928831, 49929013], [49929190, 49929375]]	None
ENST00000490053	[[49929203, 49929271], [49932599, 49932872]]	None
ENST00000467110	[[49932863, 49932981], [49933147, 49933571]]	None
NM_002447	[[49924434, 49924995], [49927356, 49927493], [49927917, 49928083], [49928629, 49928739], [49928831, 49929013], [49929190, 49929271], [49932599, 49932806], [49932879, 49932981], [49933147, 49933313], [49933393, 49933540], [49933627, 49933837], [49933972, 49934066], [49934161, 49934323], [49934712, 49934849], [49934952, 49935118], [49935483, 49935644], [49935950, 49936121], [49936299, 49936428], [49936507, 49936696], [49939812, 49941070]]	[[49924739, 49924995], [49927356, 49927493], [49927917, 49928083], [49928629, 49928739], [49928831, 49929013], [49929190, 49929271], [49932599, 49932806], [49932879, 49932981], [49933147, 49933313], [49933393, 49933540], [49933627, 49933837], [49933972, 49934066], [49934161, 49934323], [49934712, 49934849], [49934952, 49935118], [49935483, 49935644], [49935950, 49936121], [49936299, 49936428], [49936507, 49936696], [49939812, 49941042]]
NR_134919	[[49924434, 49924995], [49927356, 49927493], [49927917, 49928083], [49928629, 49928739], [49928831, 49929013], [49929190, 49929271], [49932663, 49932806], [49932879, 49932981], [49933147, 49933313], [49933393, 49933540], [49933627, 49933837], [49933972, 49934066], [49934161, 49934323], [49934712, 49934849], [49934952, 49935118], [49935483, 49935644], [49935950, 49936121], [49936299, 49936428], [49936507, 49936696], [49939812, 49941070]]	None
NM_001244937	[[49924434, 49924995], [49927356, 49927493], [49927917, 49928083], [49928629, 49928739], [49928831, 49929013], [49929190, 49929271], [49932599, 49932806], [49932879, 49932981], [49933147, 49933313], [49933627, 49933837], [49933972, 49934066], [49934161, 49934323], [49934712, 49934849], [49934952, 49935118], [49935483, 49935644], [49935950, 49936121], [49936299, 49936428], [49936507, 49936696], [49939812, 49941070]]	[[49924739, 49924995], [49927356, 49927493], [49927917, 49928083], [49928629, 49928739], [49928831, 49929013], [49929190, 49929271], [49932599, 49932806], [49932879, 49932981], [49933147, 49933313], [49933627, 49933837], [49933972, 49934066], [49934161, 49934323], [49934712, 49934849], [49934952, 49935118], [49935483, 49935644], [49935950, 49936121], [49936299, 49936428], [49936507, 49936696], [49939812, 49941042]]
NM_001318913	[[49924434, 49924995], [49927356, 49927493], [49927917, 49928083], [49928629, 49928739], [49928831, 49929013], [49929190, 49929271], [49932599, 49932806], [49932879, 49932981], [49933147, 49933313], [49933393, 49933540], [49933627, 49933837], [49933972, 49934066], [49934161, 49934323], [49934712, 49934849], [49934952, 49935118], [49935483, 49935644], [49935950, 49936121], [49939812, 49941070]]	[[49924739, 49924995], [49927356, 49927493], [49927917, 49928083], [49928629, 49928739], [49928831, 49929013], [49929190, 49929271], [49932599, 49932806], [49932879, 49932981], [49933147, 49933313], [49933393, 49933540], [49933627, 49933837], [49933972, 49934066], [49934161, 49934323], [49934712, 49934849], [49934952, 49935118], [49935483, 49935644], [49935950, 49936121], [49939812, 49941042]]

Promoter

Chrom	Start	End	Description
chr3	49941296	49941314	CAGE_peak_1_at_MST1R_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I049869	49868148	49868297	0.57	[{'connected_gene': 'CAMKV', 'score': 550.77}, {'connected_gene': 'ENSG00000230698', 'score': 12.73}, {'connected_gene': 'MST1R', 'score': 12.71}, {'connected_gene': 'ENSG00000228008', 'score': 12.71}, {'connected_gene': 'IP6K1', 'score': 11.34}, {'connected_gene': 'PHF5EP', 'score': 11.32}, {'connected_gene': 'RN7SL217P', 'score': 0.77}, {'connected_gene': 'GC03P049762', 'score': 0.14}, {'connected_gene': 'GC03P049763', 'score': 0.14}, {'connected_gene': 'GC03P049421', 'score': 0.05}]
chr3	GH03I049868	49868401	49870391	1.44	[{'connected_gene': 'CAMKV', 'score': 550.77}, {'connected_gene': 'RBM6', 'score': 41.03}, {'connected_gene': 'ENSG00000230698', 'score': 12.74}, {'connected_gene': 'MST1R', 'score': 12.73}, {'connected_gene': 'ENSG00000228008', 'score': 12.73}, {'connected_gene': 'IP6K1', 'score': 11.34}, {'connected_gene': 'PHF5EP', 'score': 11.32}, {'connected_gene': 'RN7SL217P', 'score': 0.44}, {'connected_gene': 'GC03P049762', 'score': 0.14}, {'connected_gene': 'GC03P049763', 'score': 0.14}, {'connected_gene': 'GC03P049421', 'score': 0.05}]
chr3	GH03I050154	50154448	50173170	2.73	[{'connected_gene': 'SEMA3F', 'score': 560.53}, {'connected_gene': 'RBM6', 'score': 30.9}, {'connected_gene': 'RBM5', 'score': 15.13}, {'connected_gene': 'MON1A', 'score': 14.05}, {'connected_gene': 'GNAI2', 'score': 13.23}, {'connected_gene': 'HYAL3', 'score': 12.49}, {'connected_gene': 'CYB561D2', 'score': 10.14}, {'connected_gene': 'CCDC36', 'score': 6.35}, {'connected_gene': 'MAPKAPK3', 'score': 6.18}, {'connected_gene': 'KLHDC8B', 'score': 5.35}, {'connected_gene': 'DOCK3', 'score': 4.3}, {'connected_gene': 'IFRD2', 'score': 4.12}, {'connected_gene': 'HYAL2', 'score': 3.99}, {'connected_gene': 'TUSC2', 'score': 2.74}, {'connected_gene': 'MST1R', 'score': 2.4}, {'connected_gene': 'FAM212A', 'score': 2.21}, {'connected_gene': 'GMPPB', 'score': 1.37}, {'connected_gene': 'SEMA3F-AS1', 'score': 0.44}, {'connected_gene': 'GC03P050173', 'score': 0.44}]
chr3	GH03I049898	49898118	49907283	2.09	[{'connected_gene': 'MST1R', 'score': 559.86}, {'connected_gene': 'GC03P049904', 'score': 550.77}, {'connected_gene': 'ENSG00000228008', 'score': 550.77}, {'connected_gene': 'RBM6', 'score': 45.84}, {'connected_gene': 'GMPPB', 'score': 6.98}, {'connected_gene': 'IFRD2', 'score': 3.88}, {'connected_gene': 'SEMA3F', 'score': 3.25}, {'connected_gene': 'MON1A', 'score': 2.83}, {'connected_gene': 'APEH', 'score': 2.78}, {'connected_gene': 'TUSC2', 'score': 1.82}, {'connected_gene': 'FAM212A', 'score': 1.41}, {'connected_gene': 'ENSG00000230698', 'score': 0.77}, {'connected_gene': 'LOC102724438', 'score': 0.77}, {'connected_gene': 'GC03P049762', 'score': 0.12}, {'connected_gene': 'GC03P049763', 'score': 0.12}, {'connected_gene': 'GC03P049421', 'score': 0.04}]
chr3	GH03I049897	49897066	49897866	0.31	[{'connected_gene': 'LOC102724438', 'score': 550.77}, {'connected_gene': 'ENSG00000230698', 'score': 550.77}, {'connected_gene': 'MST1R', 'score': 0.44}, {'connected_gene': 'ACTBP13', 'score': 0.34}, {'connected_gene': 'GC03P049763', 'score': 0.12}, {'connected_gene': 'GC03P049762', 'score': 0.12}, {'connected_gene': 'GC03P049421', 'score': 0.04}]
chr3	GH03I050316	50316058	50319291	1.56	[{'connected_gene': 'GC03M050319', 'score': 550.77}, {'connected_gene': 'GC03M050318', 'score': 550.77}, {'connected_gene': 'HYAL1', 'score': 8.71}, {'connected_gene': 'CYB561D2', 'score': 7.29}, {'connected_gene': 'MST1R', 'score': 1.31}, {'connected_gene': 'HYAL2', 'score': 0.44}]
chr3	GH03I049867	49867868	49868077	0.63	[{'connected_gene': 'ENSG00000230698', 'score': 12.73}, {'connected_gene': 'MST1R', 'score': 12.71}, {'connected_gene': 'ENSG00000228008', 'score': 12.71}, {'connected_gene': 'IP6K1', 'score': 11.34}, {'connected_gene': 'PHF5EP', 'score': 11.32}, {'connected_gene': 'RN7SL217P', 'score': 0.77}, {'connected_gene': 'CAMKV', 'score': 0.77}, {'connected_gene': 'GC03P049762', 'score': 0.14}, {'connected_gene': 'GC03P049763', 'score': 0.14}, {'connected_gene': 'GC03P049421', 'score': 0.05}]