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
ENST00000408925	[[42858004, 42858554]]	[[42858220, 42858526]]
NM_001008739	[[42858002, 42858554]]	[[42858220, 42858526]]

Promoter

Chrom	Start	End	Description
chr6	42858534	42858595	CAGE_peak_1_at_C6orf226_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I042773	42773404	42777843	1.48	[{'connected_gene': 'TBCC', 'score': 12.32}, {'connected_gene': 'CUL7', 'score': 11.86}, {'connected_gene': 'RPL7L1', 'score': 10.89}, {'connected_gene': 'ABCC10', 'score': 10.37}, {'connected_gene': 'CUL9', 'score': 9.75}, {'connected_gene': 'TRERF1', 'score': 6.71}, {'connected_gene': 'BICRAL', 'score': 5.03}, {'connected_gene': 'C6orf226', 'score': 3.9}, {'connected_gene': 'UBR2', 'score': 1.93}, {'connected_gene': 'LOC401261', 'score': 0.44}, {'connected_gene': 'PIR49302', 'score': 0.31}]
chr6	GH06I042769	42769930	42772897	1.53	[{'connected_gene': 'TBCC', 'score': 22.04}, {'connected_gene': 'CUL7', 'score': 11.86}, {'connected_gene': 'RPL7L1', 'score': 11.13}, {'connected_gene': 'CUL9', 'score': 10.91}, {'connected_gene': 'ABCC10', 'score': 10.37}, {'connected_gene': 'TRERF1', 'score': 9.15}, {'connected_gene': 'C6orf226', 'score': 6.24}, {'connected_gene': 'PRPH2', 'score': 5.91}, {'connected_gene': 'BICRAL', 'score': 4.95}, {'connected_gene': 'GNMT', 'score': 4.72}, {'connected_gene': 'UBR2', 'score': 3.23}, {'connected_gene': 'CNPY3', 'score': 1.61}, {'connected_gene': 'LOC401261', 'score': 0.39}, {'connected_gene': 'PIR49302', 'score': 0.34}]
chr6	GH06I042877	42877000	42878224	1.09	[{'connected_gene': 'PEX6', 'score': 13.5}, {'connected_gene': 'C6orf226', 'score': 8.27}, {'connected_gene': 'RPL7L1', 'score': 7.27}, {'connected_gene': 'LOC401261', 'score': 0.16}]
chr6	GH06I042889	42889558	42891740	2.07	[{'connected_gene': 'C6orf226', 'score': 558.77}, {'connected_gene': 'PIR42130', 'score': 550.77}, {'connected_gene': 'GC06P042892', 'score': 550.77}, {'connected_gene': 'POLH', 'score': 48.67}, {'connected_gene': 'ZNF318', 'score': 42.01}, {'connected_gene': 'RPS2P29', 'score': 37.14}, {'connected_gene': 'POLR1C', 'score': 36.69}, {'connected_gene': 'XPO5', 'score': 35.33}, {'connected_gene': 'GTPBP2', 'score': 28.29}, {'connected_gene': 'UBR2', 'score': 26.84}, {'connected_gene': 'BICRAL', 'score': 23.45}, {'connected_gene': 'RPL7L1', 'score': 23.31}, {'connected_gene': 'RPL24P4', 'score': 20.79}, {'connected_gene': 'RRP36', 'score': 19.82}, {'connected_gene': 'MED20', 'score': 18.63}, {'connected_gene': 'ENSG00000271970', 'score': 17.12}, {'connected_gene': 'CUL7', 'score': 13.88}, {'connected_gene': 'ABCC10', 'score': 12.26}, {'connected_gene': 'YIPF3', 'score': 10.87}, {'connected_gene': 'PTK7', 'score': 10.34}, {'connected_gene': 'BYSL', 'score': 9.85}, {'connected_gene': 'ENSG00000271754', 'score': 9.78}, {'connected_gene': 'TAF8', 'score': 9.75}, {'connected_gene': 'GC06P042887', 'score': 0.77}]
chr6	GH06I042878	42878842	42881318	2.11	[{'connected_gene': 'RPL7L1', 'score': 561.34}, {'connected_gene': 'GC06P042880', 'score': 550.77}, {'connected_gene': 'GC06P042879', 'score': 550.77}, {'connected_gene': 'PIR42746', 'score': 550.77}, {'connected_gene': 'ABCC10', 'score': 40.57}, {'connected_gene': 'ZNF318', 'score': 39.5}, {'connected_gene': 'POLH', 'score': 38.03}, {'connected_gene': 'CUL7', 'score': 35.91}, {'connected_gene': 'GTPBP2', 'score': 32.96}, {'connected_gene': 'BICRAL', 'score': 24.58}, {'connected_gene': 'RPS2P29', 'score': 23.92}, {'connected_gene': 'PEX6', 'score': 23.44}, {'connected_gene': 'RPL34P14', 'score': 22.63}, {'connected_gene': 'RRP36', 'score': 22.4}, {'connected_gene': 'ENSG00000271970', 'score': 14.57}, {'connected_gene': 'XPO5', 'score': 13.84}, {'connected_gene': 'POLR1C', 'score': 13.45}, {'connected_gene': 'RPL24P4', 'score': 10.93}, {'connected_gene': 'ENSG00000271754', 'score': 10.49}, {'connected_gene': 'UBR2', 'score': 9.99}, {'connected_gene': 'ENSG00000272223', 'score': 9.91}, {'connected_gene': 'CUL9', 'score': 9.85}, {'connected_gene': 'C6orf226', 'score': 8.3}, {'connected_gene': 'PIR44704', 'score': 0.77}]
chr6	GH06I042916	42916004	42916063	0.81	[{'connected_gene': 'PTCRA', 'score': 550.77}, {'connected_gene': 'ENSG00000231113', 'score': 12.21}, {'connected_gene': 'PPP2R5D', 'score': 11.59}, {'connected_gene': 'RPL7L1', 'score': 11.16}, {'connected_gene': 'C6orf226', 'score': 10.95}, {'connected_gene': 'PEX6', 'score': 10.88}, {'connected_gene': 'KLHDC3', 'score': 10.53}, {'connected_gene': 'MEA1', 'score': 10.53}, {'connected_gene': 'CUL9', 'score': 10.2}, {'connected_gene': 'RNU6-890P', 'score': 9.76}, {'connected_gene': 'GC06P042927', 'score': 0.39}]
chr6	GH06I043290	43290029	43291448	1.08	[{'connected_gene': 'DNPH1', 'score': 6.71}, {'connected_gene': 'C6orf226', 'score': 5.04}, {'connected_gene': 'PEX6', 'score': 4.62}, {'connected_gene': 'SLC22A7', 'score': 0.77}, {'connected_gene': 'LOC105375064', 'score': 0.44}]
chr6	GH06I042925	42925064	42926987	0.54	[{'connected_gene': 'GC06P042927', 'score': 550.77}, {'connected_gene': 'PEX6', 'score': 33.58}, {'connected_gene': 'MEA1', 'score': 20.33}, {'connected_gene': 'RPL24P4', 'score': 12.15}, {'connected_gene': 'PPP2R5D', 'score': 11.14}, {'connected_gene': 'KLHDC3', 'score': 10.8}, {'connected_gene': 'KLC4', 'score': 10.74}, {'connected_gene': 'CUL7', 'score': 10.56}, {'connected_gene': 'RN7SL403P', 'score': 10.49}, {'connected_gene': 'DNPH1', 'score': 10.46}, {'connected_gene': 'RPL7L1', 'score': 10.07}, {'connected_gene': 'DLK2', 'score': 9.2}, {'connected_gene': 'C6orf226', 'score': 6.27}, {'connected_gene': 'PTCRA', 'score': 0.39}]
chr6	GH06I042725	42725944	42728420	1.74	[{'connected_gene': 'GC06M042884', 'score': 550.77}, {'connected_gene': 'PIR45489', 'score': 550.77}, {'connected_gene': 'GC06M042885', 'score': 550.77}, {'connected_gene': 'GC06M042880', 'score': 550.77}, {'connected_gene': 'PIR38200', 'score': 550.77}, {'connected_gene': 'GC06M042878', 'score': 550.77}, {'connected_gene': 'PIR32414', 'score': 550.77}, {'connected_gene': 'PIR46521', 'score': 550.77}, {'connected_gene': 'PIR39670', 'score': 550.77}, {'connected_gene': 'PIR32666', 'score': 550.77}, {'connected_gene': 'PIR49152', 'score': 550.77}, {'connected_gene': 'GC06M042875', 'score': 550.77}, {'connected_gene': 'PIR43168', 'score': 550.77}, {'connected_gene': 'PIR59728', 'score': 550.77}, {'connected_gene': 'PIR31685', 'score': 550.77}, {'connected_gene': 'PIR31518', 'score': 550.77}, {'connected_gene': 'GC06M042883', 'score': 550.77}, {'connected_gene': 'ATP6V0CP3', 'score': 550.77}, {'connected_gene': 'PRPH2', 'score': 9.15}, {'connected_gene': 'TBCC', 'score': 3.96}, {'connected_gene': 'KLC4', 'score': 2.01}, {'connected_gene': 'TRERF1', 'score': 1.82}, {'connected_gene': 'CUL9', 'score': 1.74}, {'connected_gene': 'C6orf226', 'score': 1.65}]