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
ENST00000527308	[[119056165, 119056219], [119056557, 119056661], [119056800, 119057266]]	None
ENST00000526279	[[119056183, 119056219], [119056633, 119056661], [119056800, 119057319]]	None
ENST00000527951	[[119056183, 119056219], [119056630, 119056661], [119056800, 119056874], [119057187, 119057399], [119057978, 119058168], [119058272, 119058367]]	None
ENST00000525131	[[119056183, 119056219], [119056633, 119056661], [119056800, 119056950], [119057187, 119057399], [119057978, 119058168], [119058272, 119058409], [119058648, 119058853], [119059063, 119059260], [119059348, 119059576], [119059713, 119059914], [119060171, 119060469]]	[[119056871, 119056950], [119057187, 119057399], [119057978, 119058168], [119058272, 119058409], [119058648, 119058853], [119059063, 119059260], [119059348, 119059576], [119059713, 119059914], [119060171, 119060201]]
ENST00000534790	[[119056183, 119056219], [119056633, 119056661], [119056800, 119057399], [119057978, 119058168], [119058272, 119058409], [119058648, 119059260], [119059348, 119059914], [119060171, 119060655]]	None
ENST00000529098	[[119056183, 119056219], [119056633, 119056661], [119056800, 119056874], [119057187, 119057399], [119057978, 119058168], [119058272, 119059576], [119059713, 119059914], [119060171, 119060658]]	None
ENST00000527028	[[119056183, 119056219], [119056557, 119056661], [119056800, 119056874], [119057187, 119057399], [119057978, 119058168], [119058272, 119058409], [119058648, 119059260], [119059348, 119059576], [119059713, 119059914], [119060171, 119060899]]	None
ENST00000531114	[[119056183, 119056661], [119056800, 119057399], [119057978, 119058168], [119058272, 119058409], [119058648, 119058853], [119059063, 119059260], [119059348, 119059576], [119059713, 119059914], [119060171, 119060932]]	[[119056871, 119057399], [119057978, 119058168], [119058272, 119058409], [119058648, 119058853], [119059063, 119059260], [119059348, 119059576], [119059713, 119059914], [119060171, 119060201]]
ENST00000533688	[[119056188, 119056219], [119056633, 119056661], [119056800, 119056874], [119057187, 119057399], [119058272, 119058409], [119058648, 119058739]]	[[119056203, 119056219], [119056633, 119056661], [119056800, 119056874], [119057187, 119057399], [119058272, 119058302]]
ENST00000355547	[[119056188, 119056219], [119056633, 119056661], [119056800, 119056874], [119057187, 119057399], [119057978, 119058168], [119058272, 119058409], [119058648, 119058853], [119059063, 119059260], [119059348, 119059576], [119059713, 119059914], [119060171, 119060920]]	[[119056203, 119056219], [119056633, 119056661], [119056800, 119056874], [119057187, 119057399], [119057978, 119058168], [119058272, 119058409], [119058648, 119058853], [119059063, 119059260], [119059348, 119059576], [119059713, 119059914], [119060171, 119060201]]
ENST00000526836	[[119056191, 119056337], [119056557, 119056661], [119056800, 119057123]]	None
ENST00000528730	[[119056194, 119056337], [119056630, 119056661], [119057324, 119057399], [119058272, 119058409], [119058648, 119058846]]	None
ENST00000322712	[[119056194, 119056219], [119056633, 119056661], [119056800, 119056874], [119057187, 119057399], [119057978, 119058168], [119058272, 119058367], [119058648, 119058853], [119059063, 119059260], [119059348, 119059576], [119059713, 119059914], [119060171, 119060920]]	[[119056203, 119056219], [119056633, 119056661], [119056800, 119056874], [119057187, 119057399], [119057978, 119058168], [119058272, 119058367], [119058648, 119058853], [119059063, 119059260], [119059348, 119059576], [119059713, 119059914], [119060171, 119060201]]
ENST00000529573	[[119056195, 119056219], [119056633, 119057175]]	None
ENST00000392817	[[119056871, 119057399], [119057978, 119058168], [119058272, 119058409], [119058648, 119058853], [119059063, 119059260], [119059348, 119059576], [119059713, 119059914], [119060171, 119060932]]	[[119056871, 119057399], [119057978, 119058168], [119058272, 119058409], [119058648, 119058853], [119059063, 119059260], [119059348, 119059576], [119059713, 119059914], [119060171, 119060201]]
NM_024791	[[119056165, 119056219], [119056633, 119056661], [119056800, 119056874], [119057187, 119057399], [119057978, 119058168], [119058272, 119058367], [119058648, 119058853], [119059063, 119059260], [119059348, 119059576], [119059713, 119059914], [119060171, 119060932]]	[[119056203, 119056219], [119056633, 119056661], [119056800, 119056874], [119057187, 119057399], [119057978, 119058168], [119058272, 119058367], [119058648, 119058853], [119059063, 119059260], [119059348, 119059576], [119059713, 119059914], [119060171, 119060201]]
NM_001168468	[[119056165, 119056219], [119056633, 119056661], [119056800, 119056874], [119057187, 119057399], [119057978, 119058168], [119058272, 119058409], [119058648, 119058853], [119059063, 119059260], [119059348, 119059576], [119059713, 119059914], [119060171, 119060932]]	[[119056203, 119056219], [119056633, 119056661], [119056800, 119056874], [119057187, 119057399], [119057978, 119058168], [119058272, 119058409], [119058648, 119058853], [119059063, 119059260], [119059348, 119059576], [119059713, 119059914], [119060171, 119060201]]
NR_033122	[[119056165, 119056219], [119056633, 119056661], [119056800, 119056950], [119057187, 119057399], [119057978, 119058168], [119058272, 119058409], [119058648, 119058853], [119059063, 119059260], [119059348, 119059576], [119059713, 119059914], [119060171, 119060932]]	None

Promoter

Chrom	Start	End	Description
chr11	119056147	119056152	CAGE_peak_3_at_PDZD3_5end
chr11	119056158	119056172	CAGE_peak_2_at_PDZD3_5end
chr11	119056178	119056200	CAGE_peak_1_at_PDZD3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I119257	119257775	119261168	0.72	[{'connected_gene': 'CBL', 'score': 13.9}, {'connected_gene': 'PDZD3', 'score': 10.93}, {'connected_gene': 'NLRX1', 'score': 10.91}, {'connected_gene': 'HMBS', 'score': 10.87}, {'connected_gene': 'ABCG4', 'score': 10.74}, {'connected_gene': 'C1QTNF5', 'score': 10.66}, {'connected_gene': 'MFRP', 'score': 10.66}, {'connected_gene': 'DPAGT1', 'score': 10.49}, {'connected_gene': 'C2CD2L', 'score': 10.49}, {'connected_gene': 'H2AFX', 'score': 10.22}, {'connected_gene': 'HINFP', 'score': 10.14}, {'connected_gene': 'MCAM', 'score': 8.81}, {'connected_gene': 'IFT46', 'score': 5.49}, {'connected_gene': 'GC11M119252', 'score': 0.44}, {'connected_gene': 'GC11M119278', 'score': 0.34}]
chr11	GH11I119184	119184852	119186600	1.16	[{'connected_gene': 'PDZD3', 'score': 550.77}, {'connected_gene': 'NLRX1', 'score': 9.0}, {'connected_gene': 'PIR45666', 'score': 0.44}]
chr11	GH11I119310	119310699	119310930	0.4	[{'connected_gene': 'RNF26', 'score': 12.45}, {'connected_gene': 'ENSG00000245385', 'score': 12.42}, {'connected_gene': 'C1QTNF5', 'score': 11.68}, {'connected_gene': 'MFRP', 'score': 11.68}, {'connected_gene': 'ABCG4', 'score': 10.91}, {'connected_gene': 'PDZD3', 'score': 10.76}, {'connected_gene': 'NLRX1', 'score': 10.7}, {'connected_gene': 'MIR6756', 'score': 0.77}, {'connected_gene': 'PIR40709', 'score': 0.77}, {'connected_gene': 'MCAM', 'score': 0.39}, {'connected_gene': 'CBL', 'score': 0.15}]
chr11	GH11I119217	119217321	119219347	0.93	[{'connected_gene': 'HINFP', 'score': 27.02}, {'connected_gene': 'NLRX1', 'score': 20.07}, {'connected_gene': 'CBL', 'score': 19.93}, {'connected_gene': 'PDZD3', 'score': 11.62}, {'connected_gene': 'ABCG4', 'score': 10.83}, {'connected_gene': 'DPAGT1', 'score': 10.54}, {'connected_gene': 'C2CD2L', 'score': 10.54}, {'connected_gene': 'H2AFX', 'score': 10.53}, {'connected_gene': 'HMBS', 'score': 10.52}, {'connected_gene': 'MFRP', 'score': 10.28}, {'connected_gene': 'C1QTNF5', 'score': 10.28}, {'connected_gene': 'MCAM', 'score': 9.16}, {'connected_gene': 'ENSG00000271751', 'score': 5.29}, {'connected_gene': 'CCDC153', 'score': 0.39}, {'connected_gene': 'GC11M119252', 'score': 0.29}]
chr11	GH11I119125	119125208	119127183	0.43	[{'connected_gene': 'HINFP', 'score': 44.15}, {'connected_gene': 'HMBS', 'score': 11.94}, {'connected_gene': 'VPS11', 'score': 11.9}, {'connected_gene': 'ABCG4', 'score': 11.88}, {'connected_gene': 'NLRX1', 'score': 11.73}, {'connected_gene': 'PDZD3', 'score': 11.19}, {'connected_gene': 'C2CD2L', 'score': 11.13}, {'connected_gene': 'H2AFX', 'score': 11.09}, {'connected_gene': 'PIR55037', 'score': 0.44}]
chr11	GH11I119262	119262137	119264399	0.85	[{'connected_gene': 'RNU6-262P', 'score': 12.19}, {'connected_gene': 'NLRX1', 'score': 11.09}, {'connected_gene': 'PDZD3', 'score': 11.0}, {'connected_gene': 'ABCG4', 'score': 10.95}, {'connected_gene': 'HINFP', 'score': 10.7}, {'connected_gene': 'DPAGT1', 'score': 10.31}, {'connected_gene': 'H2AFX', 'score': 10.31}, {'connected_gene': 'C2CD2L', 'score': 10.3}, {'connected_gene': 'HMBS', 'score': 10.3}, {'connected_gene': 'GC11M119252', 'score': 0.39}, {'connected_gene': 'GC11M119278', 'score': 0.37}, {'connected_gene': 'CBL', 'score': 0.22}]
chr11	GH11I119240	119240862	119241579	0.2	[{'connected_gene': 'RNU6-262P', 'score': 13.08}, {'connected_gene': 'NLRX1', 'score': 11.32}, {'connected_gene': 'HINFP', 'score': 10.82}, {'connected_gene': 'PDZD3', 'score': 10.75}, {'connected_gene': 'ABCG4', 'score': 10.64}, {'connected_gene': 'C2CD2L', 'score': 10.39}, {'connected_gene': 'DPAGT1', 'score': 10.39}, {'connected_gene': 'H2AFX', 'score': 10.15}, {'connected_gene': 'HMBS', 'score': 10.14}, {'connected_gene': 'GC11M119252', 'score': 0.39}, {'connected_gene': 'CBL', 'score': 0.29}, {'connected_gene': 'CCDC153', 'score': 0.29}]
chr11	GH11I119312	119312015	119313245	0.2	[{'connected_gene': 'MIR6756', 'score': 550.77}, {'connected_gene': 'RNF26', 'score': 12.45}, {'connected_gene': 'ENSG00000245385', 'score': 12.45}, {'connected_gene': 'C1QTNF5', 'score': 11.7}, {'connected_gene': 'MFRP', 'score': 11.7}, {'connected_gene': 'ABCG4', 'score': 10.91}, {'connected_gene': 'PDZD3', 'score': 10.76}, {'connected_gene': 'NLRX1', 'score': 10.7}, {'connected_gene': 'PIR40709', 'score': 0.44}, {'connected_gene': 'MCAM', 'score': 0.44}, {'connected_gene': 'CBL', 'score': 0.14}]
chr11	GH11I119178	119178201	119178600	0.31	[{'connected_gene': 'GC11M119170', 'score': 0.44}, {'connected_gene': 'PDZD3', 'score': 0.44}, {'connected_gene': 'NLRX1', 'score': 0.39}]
chr11	GH11I119308	119308050	119309102	0.38	[{'connected_gene': 'PIR40709', 'score': 550.77}, {'connected_gene': 'RNF26', 'score': 12.42}, {'connected_gene': 'ENSG00000245385', 'score': 12.42}, {'connected_gene': 'C1QTNF5', 'score': 11.68}, {'connected_gene': 'MFRP', 'score': 11.68}, {'connected_gene': 'ABCG4', 'score': 10.92}, {'connected_gene': 'PDZD3', 'score': 10.75}, {'connected_gene': 'NLRX1', 'score': 10.71}, {'connected_gene': 'MCAM', 'score': 7.67}, {'connected_gene': 'CCDC153', 'score': 6.76}, {'connected_gene': 'MIR6756', 'score': 0.77}, {'connected_gene': 'CBL', 'score': 0.15}]
chr11	GH11I119253	119253986	119254005	0.24	[{'connected_gene': 'GC11M119252', 'score': 550.77}, {'connected_gene': 'ABCG4', 'score': 10.75}, {'connected_gene': 'PDZD3', 'score': 10.73}, {'connected_gene': 'HINFP', 'score': 10.11}, {'connected_gene': 'MFRP', 'score': 10.05}, {'connected_gene': 'C1QTNF5', 'score': 10.05}, {'connected_gene': 'GC11M119278', 'score': 0.31}, {'connected_gene': 'CBL', 'score': 0.25}]
chr11	GH11I119192	119192001	119192800	0.31	[{'connected_gene': 'PIR45666', 'score': 550.77}, {'connected_gene': 'HINFP', 'score': 15.99}, {'connected_gene': 'PDZD3', 'score': 0.44}, {'connected_gene': 'CCDC153', 'score': 0.39}]