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
ENST00000472688	[[84330710, 84335765], [84348645, 84348819], [84356003, 84356164], [84369761, 84369842], [84372011, 84372146], [84373138, 84373344], [84376847, 84377046], [84383286, 84383369], [84385381, 84385517], [84386769, 84386843], [84386929, 84387077], [84394818, 84394913], [84399290, 84399449], [84403534, 84403699], [84408145, 84408362], [84411682, 84412095], [84412806, 84412965], [84414310, 84414619]]	None
ENST00000480174	[[84330710, 84335765], [84348645, 84348819], [84356003, 84356164], [84369761, 84369842], [84372011, 84372206], [84373138, 84373344], [84376847, 84377046], [84383286, 84383373], [84385381, 84385517], [84386769, 84386843], [84386929, 84387077], [84394818, 84394913], [84399290, 84399449], [84403534, 84403699], [84408145, 84408362], [84412806, 84412965], [84414310, 84414378], [84415547, 84415669], [84417527, 84417659], [84417869, 84418064]]	[[84372188, 84372206], [84373138, 84373344], [84376847, 84377046], [84383286, 84383373], [84385381, 84385517], [84386769, 84386843], [84386929, 84387077], [84394818, 84394913], [84399290, 84399449], [84403534, 84403699], [84408145, 84408362], [84412806, 84412965], [84414310, 84414378], [84415547, 84415669], [84417527, 84417659], [84417869, 84417894]]
ENST00000477524	[[84330710, 84335660], [84345575, 84345666], [84345943, 84345977], [84348351, 84348484], [84348645, 84348819], [84352859, 84352967], [84356003, 84356164], [84367836, 84367923], [84369761, 84369842], [84372011, 84372146], [84373138, 84373344], [84376847, 84377046], [84378126, 84378186], [84378615, 84378723], [84383286, 84383373], [84385381, 84385517], [84386769, 84386843], [84386929, 84387077], [84394818, 84394913], [84399290, 84399449], [84403534, 84403699], [84408145, 84408362], [84412806, 84412965], [84414310, 84414378], [84415547, 84415669], [84417527, 84417659], [84417869, 84418070], [84464613, 84464775]]	None
ENST00000488014	[[84330710, 84335765], [84348645, 84348819], [84352859, 84352967], [84356003, 84356164], [84369761, 84369842], [84372011, 84372146], [84373138, 84373344], [84376847, 84377046], [84383286, 84383387], [84385381, 84385517], [84386205, 84386298], [84386769, 84386843], [84386929, 84387077], [84394818, 84394913], [84399290, 84399449], [84403534, 84403699], [84412806, 84412965], [84414310, 84414378], [84415547, 84415669], [84417527, 84417659], [84417869, 84418070], [84464613, 84464790]]	None
ENST00000260505	[[84330710, 84335765], [84348645, 84348819], [84356003, 84356164], [84369761, 84369842], [84372011, 84372146], [84373138, 84373344], [84376847, 84377046], [84383286, 84383373], [84385381, 84385517], [84386769, 84386843], [84386929, 84387077], [84394818, 84394913], [84399290, 84399449], [84403534, 84403699], [84408145, 84408362], [84412806, 84412965], [84414310, 84414378], [84415547, 84415669], [84417527, 84417659], [84417869, 84418070], [84464613, 84464815]]	[[84335644, 84335765], [84348645, 84348819], [84356003, 84356164], [84369761, 84369842], [84372011, 84372146], [84373138, 84373344], [84376847, 84377046], [84383286, 84383373], [84385381, 84385517], [84386769, 84386843], [84386929, 84387077], [84394818, 84394913], [84399290, 84399449], [84403534, 84403699], [84408145, 84408362], [84412806, 84412965], [84414310, 84414378], [84415547, 84415669], [84417527, 84417659], [84417869, 84417894]]
ENST00000474957	[[84330710, 84335765], [84348351, 84348470], [84348645, 84348819], [84352859, 84352967], [84356003, 84356164], [84369761, 84369842], [84372011, 84372146], [84373138, 84373344], [84376847, 84377046], [84383286, 84383373], [84385381, 84385517], [84386769, 84386843], [84386929, 84387077], [84394818, 84394913], [84399290, 84399449], [84464613, 84464833]]	[[84352957, 84352967], [84356003, 84356164], [84369761, 84369842], [84372011, 84372146], [84373138, 84373344], [84376847, 84377046], [84383286, 84383373], [84385381, 84385517], [84386769, 84386843], [84386929, 84387077], [84394818, 84394913], [84399290, 84399392]]
ENST00000485638	[[84348695, 84348819], [84356003, 84356164], [84369761, 84369842], [84372011, 84372206], [84373138, 84373344], [84376847, 84377046], [84383286, 84383373], [84385381, 84385517], [84386769, 84386843], [84386929, 84387077], [84394818, 84394913], [84399290, 84399449], [84403534, 84403699], [84408145, 84408362], [84412806, 84413309]]	[[84372188, 84372206], [84373138, 84373344], [84376847, 84377046], [84383286, 84383373], [84385381, 84385517], [84386769, 84386843], [84386929, 84387077], [84394818, 84394913], [84399290, 84399449], [84403534, 84403699], [84408145, 84408362], [84412806, 84412964]]
ENST00000482783	[[84383368, 84383373], [84385381, 84385517], [84386769, 84386843], [84386929, 84387077], [84394818, 84394913], [84464613, 84464708]]	None
ENST00000480533	[[84335380, 84335765], [84345575, 84345666], [84348351, 84348531]]	None
ENST00000472937	[[84335448, 84335765], [84348645, 84348819], [84350758, 84350777], [84352859, 84352967], [84356003, 84356025]]	None
ENST00000464289	[[84367691, 84367923], [84369761, 84369842], [84372011, 84372146], [84373138, 84373218]]	None
ENST00000474702	[[84376918, 84377046], [84378615, 84378663]]	None
ENST00000467670	[[84414995, 84415669], [84417527, 84417610]]	None
NM_024686	[[84335056, 84335765], [84348645, 84348819], [84356003, 84356164], [84369761, 84369842], [84372011, 84372146], [84373138, 84373344], [84376847, 84377046], [84383286, 84383373], [84385381, 84385517], [84386769, 84386843], [84386929, 84387077], [84394818, 84394913], [84399290, 84399449], [84403534, 84403699], [84408145, 84408362], [84412806, 84412965], [84414310, 84414378], [84415547, 84415669], [84417527, 84417659], [84417869, 84418070], [84464613, 84464833]]	[[84335644, 84335765], [84348645, 84348819], [84356003, 84356164], [84369761, 84369842], [84372011, 84372146], [84373138, 84373344], [84376847, 84377046], [84383286, 84383373], [84385381, 84385517], [84386769, 84386843], [84386929, 84387077], [84394818, 84394913], [84399290, 84399449], [84403534, 84403699], [84408145, 84408362], [84412806, 84412965], [84414310, 84414378], [84415547, 84415669], [84417527, 84417659], [84417869, 84417894]]

Promoter

Chrom	Start	End	Description
chr1	84413166	84413168	CAGE_peak_4_at_TTLL7_5end
chr1	84417982	84417987	CAGE_peak_3_at_TTLL7_5end
chr1	84464780	84464862	CAGE_peak_1_at_TTLL7_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I083949	83949730	83956133	0.6	[{'connected_gene': 'TTLL7', 'score': 17.87}, {'connected_gene': 'PRKACB', 'score': 11.16}, {'connected_gene': 'PIR50322', 'score': 0.39}, {'connected_gene': 'TTLL7-IT1', 'score': 0.29}]
chr1	GH01I084107	84107157	84108388	0.63	[{'connected_gene': 'TTLL7', 'score': 11.57}, {'connected_gene': 'ENSG00000271576', 'score': 5.29}, {'connected_gene': 'GC01P084086', 'score': 0.34}, {'connected_gene': 'PRKACB', 'score': 0.31}, {'connected_gene': 'LOC100128775', 'score': 0.12}]
chr1	GH01I084117	84117939	84118354	0.7	[{'connected_gene': 'TTLL7', 'score': 10.85}, {'connected_gene': 'GC01P084086', 'score': 0.29}, {'connected_gene': 'PRKACB', 'score': 0.26}, {'connected_gene': 'LOC100128775', 'score': 0.13}]
chr1	GH01I084090	84090383	84091400	0.88	[{'connected_gene': 'TTLL7', 'score': 14.89}, {'connected_gene': 'CTBS', 'score': 9.73}, {'connected_gene': 'GC01P084086', 'score': 0.44}, {'connected_gene': 'PRKACB', 'score': 0.39}, {'connected_gene': 'LOC100128775', 'score': 0.1}]
chr1	GH01I083824	83824316	83824504	0.24	[{'connected_gene': 'TTLL7', 'score': 2.31}, {'connected_gene': 'SAMD13', 'score': 2.11}, {'connected_gene': 'PRKACB', 'score': 1.94}, {'connected_gene': 'ENSG00000237076', 'score': 0.29}, {'connected_gene': 'LOC101927560', 'score': 0.28}, {'connected_gene': 'LINC01725', 'score': 0.28}]
chr1	GH01I084089	84089518	84089707	0.76	[{'connected_gene': 'TTLL7', 'score': 10.81}, {'connected_gene': 'SAMD13', 'score': 9.95}, {'connected_gene': 'CTBS', 'score': 9.73}, {'connected_gene': 'GC01P084086', 'score': 0.77}, {'connected_gene': 'PRKACB', 'score': 0.39}, {'connected_gene': 'LOC100128775', 'score': 0.1}]
chr1	GH01I083969	83969986	83971877	0.2	[{'connected_gene': 'TTLL7', 'score': 7.7}, {'connected_gene': 'TTLL7-IT1', 'score': 0.39}, {'connected_gene': 'PIR50322', 'score': 0.31}]
chr1	GH01I083956	83956437	83968903	0.65	[{'connected_gene': 'TTLL7', 'score': 18.83}, {'connected_gene': 'TTLL7-IT1', 'score': 0.34}, {'connected_gene': 'PIR50322', 'score': 0.34}]
chr1	GH01I083997	83997905	84000047	1.99	[{'connected_gene': 'TTLL7', 'score': 558.06}, {'connected_gene': 'TTLL7-IT1', 'score': 0.39}]
chr1	GH01I083900	83900048	83902313	1.09	[{'connected_gene': 'TTLL7', 'score': 6.87}, {'connected_gene': 'GC01M083866', 'score': 0.29}, {'connected_gene': 'PIR50322', 'score': 0.26}]
chr1	GH01I083937	83937064	83938450	0.2	[{'connected_gene': 'TTLL7', 'score': 7.67}, {'connected_gene': 'PIR50322', 'score': 0.77}, {'connected_gene': 'GC01M083866', 'score': 0.2}]
chr1	GH01I083926	83926696	83928644	0.49	[{'connected_gene': 'TTLL7', 'score': 5.92}, {'connected_gene': 'PIR50322', 'score': 0.39}, {'connected_gene': 'GC01M083866', 'score': 0.22}]
chr1	GH01I083931	83931098	83935533	0.77	[{'connected_gene': 'TTLL7', 'score': 7.93}, {'connected_gene': 'PIR50322', 'score': 0.44}, {'connected_gene': 'GC01M083866', 'score': 0.2}]
chr1	GH01I083974	83974801	83975994	0.38	[{'connected_gene': 'LINC01725', 'score': 6.68}, {'connected_gene': 'TTLL7', 'score': 6.06}, {'connected_gene': 'TTLL7-IT1', 'score': 0.44}, {'connected_gene': 'PIR50322', 'score': 0.29}]
chr1	GH01I083860	83860038	83861607	1.25	[{'connected_gene': 'LOC101927560', 'score': 550.77}, {'connected_gene': 'LINC01725', 'score': 550.77}, {'connected_gene': 'TTLL7', 'score': 5.87}]
chr1	GH01I083505	83505483	83505790	0.22	[{'connected_gene': 'GC01M083492', 'score': 550.77}, {'connected_gene': 'GC01M083493', 'score': 550.77}, {'connected_gene': 'TTLL7', 'score': 1.96}, {'connected_gene': 'GC01P083518', 'score': 0.39}]
chr1	GH01I083935	83935620	83936919	0.2	[{'connected_gene': 'PIR50322', 'score': 0.44}, {'connected_gene': 'TTLL7', 'score': 0.21}, {'connected_gene': 'GC01M083866', 'score': 0.2}]
chr1	GH01I083940	83940137	83941666	0.2	[{'connected_gene': 'PIR50322', 'score': 550.77}, {'connected_gene': 'TTLL7', 'score': 5.95}, {'connected_gene': 'GC01M083866', 'score': 0.19}]
chr1	GH01I083883	83883018	83883187	0.68	[{'connected_gene': 'GC01M083866', 'score': 0.39}, {'connected_gene': 'PIR50322', 'score': 0.22}, {'connected_gene': 'TTLL7', 'score': 0.13}]