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
ENST00000278826	[[61129472, 61129892], [61131723, 61131990], [61133516, 61133688], [61135394, 61135470], [61136068, 61136981]]	[[61131862, 61131990], [61133516, 61133688], [61135394, 61135470], [61136068, 61136181]]
ENST00000534963	[[61129815, 61129892], [61131723, 61131787], [61131904, 61131990], [61133516, 61134029]]	None
ENST00000543594	[[61129832, 61129892], [61131723, 61132274]]	None
ENST00000542946	[[61129832, 61129892], [61131723, 61131990], [61133516, 61136028]]	[[61131862, 61131990], [61133516, 61133706]]
ENST00000540194	[[61129857, 61129892], [61131723, 61131990], [61133516, 61133688], [61134899, 61135012]]	None
ENST00000507563	[[61129858, 61129892], [61131723, 61131990], [61133516, 61133688], [61135394, 61136055]]	None
ENST00000423772	[[61130140, 61131787], [61133516, 61133688], [61135394, 61135470], [61136068, 61136241]]	None
ENST00000451389	[[61131721, 61131990], [61133516, 61133688], [61135394, 61135470], [61135723, 61135755]]	None
ENST00000545420	[[61131721, 61131787], [61131904, 61131990], [61133516, 61133688], [61135394, 61135470], [61136068, 61136223]]	None
ENST00000381787	[[61133174, 61133688], [61135394, 61135470], [61136068, 61136683]]	[[61133562, 61133688], [61135394, 61135470], [61136068, 61136181]]
ENST00000539776	[[61134450, 61135470], [61136068, 61136683]]	None
ENST00000543833	[[61135376, 61135470], [61136243, 61136683]]	None
NM_001330281	[[61129472, 61129892], [61131723, 61131787], [61133516, 61133688], [61135394, 61135470], [61136068, 61136977]]	[[61133562, 61133688], [61135394, 61135470], [61136068, 61136181]]
NR_028473	[[61129472, 61129892], [61131723, 61131787], [61131904, 61131990], [61133516, 61133688], [61135394, 61135470], [61136068, 61136977]]	None
NM_016464	[[61129472, 61129892], [61131723, 61131990], [61133516, 61133688], [61135394, 61135470], [61136068, 61136977]]	[[61131862, 61131990], [61133516, 61133688], [61135394, 61135470], [61136068, 61136181]]

Promoter

Chrom	Start	End	Description
chr11	61129415	61129454	CAGE_peak_3_at_TMEM138_5end
chr11	61129456	61129527	CAGE_peak_2_at_TMEM138_5end
chr11	61129595	61129619	CAGE_peak_5_at_TMEM138_5end
chr11	61129661	61129674	CAGE_peak_6_at_TMEM138_5end
chr11	61129694	61129726	CAGE_peak_4_at_TMEM138_5end
chr11	61129827	61129874	CAGE_peak_1_at_TMEM138_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I061826	61826073	61838665	2.77	[{'connected_gene': 'FADS2', 'score': 632.21}, {'connected_gene': 'MTA2', 'score': 16.23}, {'connected_gene': 'FADS1', 'score': 14.69}, {'connected_gene': 'TMEM138', 'score': 14.56}, {'connected_gene': 'EML3', 'score': 14.16}, {'connected_gene': 'STX5', 'score': 13.27}, {'connected_gene': 'CPSF7', 'score': 13.12}, {'connected_gene': 'NXF1', 'score': 12.41}, {'connected_gene': 'GANAB', 'score': 12.01}, {'connected_gene': 'TMEM179B', 'score': 11.85}, {'connected_gene': 'INTS5', 'score': 11.72}, {'connected_gene': 'CYB561A3', 'score': 11.46}, {'connected_gene': 'FADS3', 'score': 11.23}, {'connected_gene': 'CSKMT', 'score': 11.0}, {'connected_gene': 'LOC105369332', 'score': 10.41}, {'connected_gene': 'BEST1', 'score': 10.36}, {'connected_gene': 'TTC9C', 'score': 10.32}, {'connected_gene': 'UBXN1', 'score': 10.29}, {'connected_gene': 'POLR2G', 'score': 4.77}, {'connected_gene': 'FEN1', 'score': 2.15}, {'connected_gene': 'INCENP', 'score': 1.62}, {'connected_gene': 'PIR43939', 'score': 0.77}, {'connected_gene': 'MIR6746', 'score': 0.25}]
chr11	GH11I061787	61787935	61788858	0.87	[{'connected_gene': 'FADS2', 'score': 68.56}, {'connected_gene': 'CPSF7', 'score': 17.89}, {'connected_gene': 'TUT1', 'score': 14.62}, {'connected_gene': 'CSKMT', 'score': 14.5}, {'connected_gene': 'TMEM138', 'score': 13.14}, {'connected_gene': 'RN7SL23P', 'score': 12.94}, {'connected_gene': 'MTA2', 'score': 12.69}, {'connected_gene': 'INTS5', 'score': 12.42}, {'connected_gene': 'GANAB', 'score': 11.96}, {'connected_gene': 'TAF6L', 'score': 11.48}, {'connected_gene': 'EML3', 'score': 10.54}, {'connected_gene': 'TMEM258', 'score': 0.77}, {'connected_gene': 'MIR611', 'score': 0.77}, {'connected_gene': 'GC11P061758', 'score': 0.31}, {'connected_gene': 'MYRF', 'score': 0.28}]
chr11	GH11I061791	61791191	61794259	2.27	[{'connected_gene': 'FADS2', 'score': 583.16}, {'connected_gene': 'MIR611', 'score': 550.77}, {'connected_gene': 'FEN1', 'score': 550.77}, {'connected_gene': 'TMEM258', 'score': 550.77}, {'connected_gene': 'CPSF7', 'score': 45.31}, {'connected_gene': 'CSKMT', 'score': 43.36}, {'connected_gene': 'GANAB', 'score': 40.43}, {'connected_gene': 'TMEM138', 'score': 37.3}, {'connected_gene': 'EML3', 'score': 29.01}, {'connected_gene': 'TUT1', 'score': 28.93}, {'connected_gene': 'INTS5', 'score': 27.86}, {'connected_gene': 'TMEM109', 'score': 27.59}, {'connected_gene': 'RN7SL23P', 'score': 26.63}, {'connected_gene': 'MTA2', 'score': 23.47}, {'connected_gene': 'TAF6L', 'score': 20.06}, {'connected_gene': 'TMEM179B', 'score': 18.46}, {'connected_gene': 'UBXN1', 'score': 18.24}, {'connected_gene': 'SDHAF2', 'score': 12.72}, {'connected_gene': 'MIR1908', 'score': 12.24}, {'connected_gene': 'FADS1', 'score': 12.18}, {'connected_gene': 'EEF1G', 'score': 11.76}, {'connected_gene': 'VPS37C', 'score': 10.96}, {'connected_gene': 'BEST1', 'score': 10.61}, {'connected_gene': 'GC11P061758', 'score': 0.29}]
chr11	GH11I061075	61075781	61076803	0.82	[{'connected_gene': 'CD5', 'score': 11.69}, {'connected_gene': 'CD6', 'score': 11.2}, {'connected_gene': 'SLC15A3', 'score': 4.77}, {'connected_gene': 'TMEM138', 'score': 2.11}, {'connected_gene': 'LOC105369325', 'score': 0.37}, {'connected_gene': 'ENSG00000256733', 'score': 0.34}]
chr11	GH11I061428	61428286	61431575	2.26	[{'connected_gene': 'CPSF7', 'score': 575.2}, {'connected_gene': 'SDHAF2', 'score': 557.13}, {'connected_gene': 'ENSG00000256591', 'score': 550.77}, {'connected_gene': 'TMEM216', 'score': 25.13}, {'connected_gene': 'TMEM138', 'score': 16.23}, {'connected_gene': 'RN7SL23P', 'score': 15.23}, {'connected_gene': 'VPS37C', 'score': 11.45}, {'connected_gene': 'TMEM109', 'score': 10.91}, {'connected_gene': 'DDB1', 'score': 10.37}, {'connected_gene': 'TKFC', 'score': 10.35}]
chr11	GH11I060898	60898877	60900098	0.92	[{'connected_gene': 'CPSF7', 'score': 19.58}, {'connected_gene': 'TMEM138', 'score': 16.37}, {'connected_gene': 'RN7SL23P', 'score': 15.65}, {'connected_gene': 'CCDC86', 'score': 12.03}, {'connected_gene': 'ENSG00000255959', 'score': 12.03}, {'connected_gene': 'TMEM109', 'score': 11.4}, {'connected_gene': 'PTGDR2', 'score': 11.08}, {'connected_gene': 'ENSG00000256813', 'score': 11.06}, {'connected_gene': 'MS4A10', 'score': 10.54}, {'connected_gene': 'PRPF19', 'score': 7.73}, {'connected_gene': 'PIR47747', 'score': 0.31}]
chr11	GH11I061566	61566952	61568233	1.28	[{'connected_gene': 'CPSF7', 'score': 19.67}, {'connected_gene': 'TMEM138', 'score': 16.41}, {'connected_gene': 'RN7SL23P', 'score': 15.74}, {'connected_gene': 'TMEM109', 'score': 11.03}, {'connected_gene': 'LOC105369331', 'score': 0.34}, {'connected_gene': 'SYT7', 'score': 0.34}, {'connected_gene': 'ENSG00000256443', 'score': 0.31}]
chr11	GH11I062041	62041386	62049469	1.27	[{'connected_gene': 'CSKMT', 'score': 86.38}, {'connected_gene': 'CPSF7', 'score': 81.91}, {'connected_gene': 'SNHG1', 'score': 78.64}, {'connected_gene': 'GANAB', 'score': 63.72}, {'connected_gene': 'NXF1', 'score': 59.2}, {'connected_gene': 'LOC105369332', 'score': 58.24}, {'connected_gene': 'TMEM138', 'score': 54.15}, {'connected_gene': 'TUT1', 'score': 53.67}, {'connected_gene': 'MTA2', 'score': 46.62}, {'connected_gene': 'INTS5', 'score': 44.98}, {'connected_gene': 'EML3', 'score': 41.73}, {'connected_gene': 'STX5', 'score': 41.7}, {'connected_gene': 'RN7SL23P', 'score': 34.15}, {'connected_gene': 'TAF6L', 'score': 31.74}, {'connected_gene': 'ENSG00000267811', 'score': 24.14}, {'connected_gene': 'WDR74', 'score': 21.39}, {'connected_gene': 'VPS37C', 'score': 20.51}, {'connected_gene': 'LBHD1', 'score': 14.59}, {'connected_gene': 'LRRN4CL', 'score': 11.94}, {'connected_gene': 'ZBTB3', 'score': 11.01}, {'connected_gene': 'UBXN1', 'score': 10.92}, {'connected_gene': 'UQCC3', 'score': 10.78}, {'connected_gene': 'TMEM216', 'score': 10.69}, {'connected_gene': 'TMEM179B', 'score': 10.28}, {'connected_gene': 'AHNAK', 'score': 10.11}, {'connected_gene': 'ENSG00000269176', 'score': 9.76}, {'connected_gene': 'GNG3', 'score': 9.69}, {'connected_gene': 'BEST1', 'score': 9.25}, {'connected_gene': 'RAB3IL1', 'score': 6.94}, {'connected_gene': 'SCGB2A2', 'score': 5.85}, {'connected_gene': 'INCENP', 'score': 5.22}, {'connected_gene': 'GC11P062053', 'score': 0.44}, {'connected_gene': 'RPS2P37', 'score': 0.29}]
chr11	GH11I061679	61679943	61681016	2.12	[{'connected_gene': 'DAGLA', 'score': 550.77}, {'connected_gene': 'MTA2', 'score': 16.23}, {'connected_gene': 'TMEM138', 'score': 14.57}, {'connected_gene': 'EML3', 'score': 14.16}, {'connected_gene': 'CPSF7', 'score': 13.44}, {'connected_gene': 'GANAB', 'score': 12.01}, {'connected_gene': 'INTS5', 'score': 11.72}, {'connected_gene': 'CSKMT', 'score': 11.0}, {'connected_gene': 'UBXN1', 'score': 10.29}, {'connected_gene': 'DKFZP434K028', 'score': 7.22}, {'connected_gene': 'PIR41833', 'score': 0.21}]
chr11	GH11I061949	61949098	61951135	1.88	[{'connected_gene': 'BEST1', 'score': 550.77}, {'connected_gene': 'CPSF7', 'score': 15.81}, {'connected_gene': 'NXF1', 'score': 12.37}, {'connected_gene': 'SNHG1', 'score': 12.27}, {'connected_gene': 'GANAB', 'score': 11.32}, {'connected_gene': 'TMEM138', 'score': 11.28}, {'connected_gene': 'EML3', 'score': 11.28}, {'connected_gene': 'MTA2', 'score': 10.65}, {'connected_gene': 'CSKMT', 'score': 10.14}, {'connected_gene': 'UBXN1', 'score': 9.83}, {'connected_gene': 'GC11M061964', 'score': 0.39}]
chr11	GH11I061916	61916396	61920718	2.41	[{'connected_gene': 'RAB3IL1', 'score': 576.13}, {'connected_gene': 'CSKMT', 'score': 25.57}, {'connected_gene': 'CPSF7', 'score': 20.98}, {'connected_gene': 'TUT1', 'score': 19.48}, {'connected_gene': 'TAF6L', 'score': 18.6}, {'connected_gene': 'WDR74', 'score': 17.11}, {'connected_gene': 'GANAB', 'score': 12.97}, {'connected_gene': 'SNHG1', 'score': 12.71}, {'connected_gene': 'FADS3', 'score': 11.68}, {'connected_gene': 'BEST1', 'score': 11.55}, {'connected_gene': 'INTS5', 'score': 11.32}, {'connected_gene': 'VPS37C', 'score': 11.29}, {'connected_gene': 'TMEM138', 'score': 11.01}, {'connected_gene': 'LRRN4CL', 'score': 10.69}, {'connected_gene': 'NXF1', 'score': 10.37}, {'connected_gene': 'UBXN1', 'score': 10.1}, {'connected_gene': 'PIR40157', 'score': 0.39}, {'connected_gene': 'GC11P061939', 'score': 0.37}]
chr11	GH11I060923	60923829	60925889	1.94	[{'connected_gene': 'TMEM132A', 'score': 550.77}, {'connected_gene': 'ENSG00000256196', 'score': 550.77}, {'connected_gene': 'CPSF7', 'score': 19.58}, {'connected_gene': 'TMEM138', 'score': 16.37}, {'connected_gene': 'RN7SL23P', 'score': 15.65}, {'connected_gene': 'TMEM109', 'score': 11.4}, {'connected_gene': 'RNU6-933P', 'score': 10.52}, {'connected_gene': 'PTGDR2', 'score': 5.22}, {'connected_gene': 'GC11P060921', 'score': 0.77}]
chr11	GH11I061498	61498845	61499165	0.83	[{'connected_gene': 'TMEM138', 'score': 14.63}, {'connected_gene': 'CPSF7', 'score': 13.57}, {'connected_gene': 'DDB1', 'score': 9.36}, {'connected_gene': 'TKFC', 'score': 9.35}, {'connected_gene': 'LRRC10B', 'score': 2.08}, {'connected_gene': 'LOC105369329', 'score': 0.77}, {'connected_gene': 'MIR4488', 'score': 0.44}]
chr11	GH11I061355	61355601	61364150	2.48	[{'connected_gene': 'TMEM138', 'score': 577.07}, {'connected_gene': 'CYB561A3', 'score': 550.77}, {'connected_gene': 'CPSF7', 'score': 31.52}, {'connected_gene': 'PRPF19', 'score': 13.88}, {'connected_gene': 'TMEM216', 'score': 13.0}, {'connected_gene': 'RN7SL23P', 'score': 12.96}, {'connected_gene': 'SDHAF2', 'score': 12.86}, {'connected_gene': 'VPS37C', 'score': 11.01}, {'connected_gene': 'TMEM109', 'score': 9.91}, {'connected_gene': 'ENSG00000279246', 'score': 0.44}]
chr11	GH11I061365	61365687	61371384	1.37	[{'connected_gene': 'TMEM216', 'score': 24.16}, {'connected_gene': 'DDB1', 'score': 12.45}, {'connected_gene': 'TKFC', 'score': 12.41}, {'connected_gene': 'GC11P061375', 'score': 0.44}, {'connected_gene': 'TMEM138', 'score': 0.44}, {'connected_gene': 'CYB561A3', 'score': 0.44}]
chr11	GH11I062123	62123227	62126197	2	[{'connected_gene': 'INCENP', 'score': 564.24}, {'connected_gene': 'NXF1', 'score': 40.29}, {'connected_gene': 'LOC105369332', 'score': 39.63}, {'connected_gene': 'CPSF7', 'score': 38.25}, {'connected_gene': 'MTA2', 'score': 36.28}, {'connected_gene': 'CSKMT', 'score': 31.63}, {'connected_gene': 'STX5', 'score': 31.31}, {'connected_gene': 'UBXN1', 'score': 29.55}, {'connected_gene': 'TMEM138', 'score': 26.33}, {'connected_gene': 'INTS5', 'score': 25.84}, {'connected_gene': 'WDR74', 'score': 25.75}, {'connected_gene': 'EML3', 'score': 24.5}, {'connected_gene': 'GANAB', 'score': 23.83}, {'connected_gene': 'SNHG1', 'score': 20.08}, {'connected_gene': 'TMEM179B', 'score': 19.95}, {'connected_gene': 'TUT1', 'score': 18.59}, {'connected_gene': 'RN7SL23P', 'score': 12.81}, {'connected_gene': 'SDHAF2', 'score': 12.69}, {'connected_gene': 'VPS37C', 'score': 10.95}, {'connected_gene': 'LRRN4CL', 'score': 10.92}, {'connected_gene': 'DDB1', 'score': 10.64}, {'connected_gene': 'TTC9C', 'score': 10.33}, {'connected_gene': 'EEF1DP8', 'score': 0.26}]
chr11	GH11I061330	61330929	61336958	2.28	[{'connected_gene': 'TKFC', 'score': 550.77}, {'connected_gene': 'DDB1', 'score': 550.44}, {'connected_gene': 'CPSF7', 'score': 16.63}, {'connected_gene': 'TMEM138', 'score': 14.16}, {'connected_gene': 'RN7SL23P', 'score': 11.9}, {'connected_gene': 'TMEM216', 'score': 11.11}, {'connected_gene': 'VPS37C', 'score': 10.33}, {'connected_gene': 'CYB561A3', 'score': 5.17}, {'connected_gene': 'MS4A14', 'score': 4.53}]
chr11	GH11I061377	61377459	61380348	1.19	[{'connected_gene': 'DDB1', 'score': 12.5}, {'connected_gene': 'TKFC', 'score': 12.47}, {'connected_gene': 'DAGLA', 'score': 7.53}, {'connected_gene': 'CYB561A3', 'score': 7.23}, {'connected_gene': 'SDHAF2', 'score': 6.08}, {'connected_gene': 'VPS37C', 'score': 3.46}, {'connected_gene': 'CPSF7', 'score': 3.35}, {'connected_gene': 'SLC15A3', 'score': 3.05}, {'connected_gene': 'TMEM138', 'score': 1.44}, {'connected_gene': 'GC11P061375', 'score': 0.77}, {'connected_gene': 'TMEM216', 'score': 0.39}]
chr11	GH11I061167	61167147	61168218	1.42	[{'connected_gene': 'GC11P061168', 'score': 550.77}, {'connected_gene': 'CD5', 'score': 19.53}, {'connected_gene': 'SLC15A3', 'score': 5.66}, {'connected_gene': 'CYB561A3', 'score': 5.47}, {'connected_gene': 'CPSF7', 'score': 4.82}, {'connected_gene': 'SDHAF2', 'score': 4.08}, {'connected_gene': 'VPS37C', 'score': 4.03}, {'connected_gene': 'TMEM138', 'score': 1.3}, {'connected_gene': 'PGA3', 'score': 0.28}]
chr11	GH11I061353	61353152	61354597	0.95	[{'connected_gene': 'ENSG00000279246', 'score': 550.77}, {'connected_gene': 'TMEM138', 'score': 0.44}, {'connected_gene': 'CYB561A3', 'score': 0.44}, {'connected_gene': 'TKFC', 'score': 0.34}]
chr11	GH11I061356	61355201	61355400	0.4	[{'connected_gene': 'ENSG00000279246', 'score': 0.77}, {'connected_gene': 'TMEM138', 'score': 0.44}, {'connected_gene': 'CYB561A3', 'score': 0.44}]
chr11	GH11I062012	62012129	62014358	1.62	[{'connected_gene': 'GC11M062012', 'score': 550.77}, {'connected_gene': 'RPS2P37', 'score': 550.77}, {'connected_gene': 'CSKMT', 'score': 15.24}, {'connected_gene': 'GANAB', 'score': 12.97}, {'connected_gene': 'SNHG1', 'score': 12.71}, {'connected_gene': 'CPSF7', 'score': 11.9}, {'connected_gene': 'TUT1', 'score': 11.13}, {'connected_gene': 'TMEM138', 'score': 11.01}, {'connected_gene': 'NXF1', 'score': 10.38}, {'connected_gene': 'TAF6L', 'score': 10.24}, {'connected_gene': 'FTH1', 'score': 1.63}, {'connected_gene': 'DAGLA', 'score': 1.43}, {'connected_gene': 'GC11P062053', 'score': 0.26}]
chr11	GH11I061960	61960735	61977112	2.65	[{'connected_gene': 'GC11M061970', 'score': 550.77}, {'connected_gene': 'FTH1', 'score': 550.77}, {'connected_gene': 'GC11M061969', 'score': 550.77}, {'connected_gene': 'LOC399900', 'score': 550.77}, {'connected_gene': 'GC11M061968', 'score': 550.77}, {'connected_gene': 'NXF1', 'score': 56.75}, {'connected_gene': 'INTS5', 'score': 56.24}, {'connected_gene': 'LOC105369332', 'score': 55.45}, {'connected_gene': 'CPSF7', 'score': 55.26}, {'connected_gene': 'UBXN1', 'score': 55.05}, {'connected_gene': 'MTA2', 'score': 52.18}, {'connected_gene': 'TMEM138', 'score': 48.92}, {'connected_gene': 'WDR74', 'score': 44.47}, {'connected_gene': 'EML3', 'score': 44.15}, {'connected_gene': 'GANAB', 'score': 43.78}, {'connected_gene': 'STX5', 'score': 42.68}, {'connected_gene': 'CSKMT', 'score': 41.85}, {'connected_gene': 'VPS37C', 'score': 31.04}, {'connected_gene': 'SNHG1', 'score': 29.23}, {'connected_gene': 'TUT1', 'score': 29.15}, {'connected_gene': 'TMEM179B', 'score': 28.06}, {'connected_gene': 'RN7SL23P', 'score': 22.82}, {'connected_gene': 'BEST1', 'score': 22.63}, {'connected_gene': 'LRRN4CL', 'score': 17.76}, {'connected_gene': 'SDHAF2', 'score': 12.7}, {'connected_gene': 'RAB3IL1', 'score': 11.75}, {'connected_gene': 'EEF1G', 'score': 10.69}, {'connected_gene': 'TTC9C', 'score': 10.32}, {'connected_gene': 'FADS1', 'score': 4.08}, {'connected_gene': 'PIR56238', 'score': 0.77}, {'connected_gene': 'GC11M061964', 'score': 0.77}]