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

Promoter

Chrom	Start	End	Description
chr18	44676819	44676883	CAGE_peak_1_at_HDHD2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr18	GH18I048107	48107284	48108179	1.01	[{'connected_gene': 'HDHD2', 'score': 13.54}, {'connected_gene': 'CTIF', 'score': 9.78}, {'connected_gene': 'GC18P048133', 'score': 0.31}, {'connected_gene': 'GC18M048089', 'score': 0.14}, {'connected_gene': 'LOC105372101', 'score': 0.11}, {'connected_gene': 'ZBTB7C', 'score': 0.06}]
chr18	GH18I046806	46806324	46806384	0.23	[{'connected_gene': 'HDHD2', 'score': 1.53}, {'connected_gene': 'GC18P046803', 'score': 0.77}, {'connected_gene': 'GC18M046804', 'score': 0.77}, {'connected_gene': 'GC18P046836', 'score': 0.31}, {'connected_gene': 'PIAS2', 'score': 0.14}]
chr18	GH18I047149	47149318	47151824	2.01	[{'connected_gene': 'HDHD2', 'score': 562.83}, {'connected_gene': 'IER3IP1', 'score': 11.36}, {'connected_gene': 'KATNAL2', 'score': 5.46}, {'connected_gene': 'ENSG00000267228', 'score': 0.31}, {'connected_gene': 'GC18P047085', 'score': 0.2}]
chr18	GH18I047158	47158570	47158719	0.65	[{'connected_gene': 'HDHD2', 'score': 0.44}, {'connected_gene': 'ENSG00000267228', 'score': 0.37}, {'connected_gene': 'IER3IP1', 'score': 0.37}, {'connected_gene': 'GC18P047085', 'score': 0.19}]
chr18	GH18I046916	46916000	46918893	1.94	[{'connected_gene': 'KATNAL2', 'score': 563.91}, {'connected_gene': 'ENSG00000279354', 'score': 550.77}, {'connected_gene': 'PIAS2', 'score': 550.77}, {'connected_gene': 'HDHD2', 'score': 6.94}, {'connected_gene': 'LOC105372097', 'score': 5.9}]
chr18	GH18I046939	46939021	46941077	0.59	[{'connected_gene': 'KATNAL2', 'score': 13.45}, {'connected_gene': 'ELOA3', 'score': 10.93}, {'connected_gene': 'ELOA2', 'score': 10.92}, {'connected_gene': 'IER3IP1', 'score': 8.27}, {'connected_gene': 'HDHD2', 'score': 6.11}, {'connected_gene': 'GC18P046926', 'score': 0.39}, {'connected_gene': 'ELOA3D', 'score': 0.34}]
chr18	GH18I046946	46946198	46947400	1.76	[{'connected_gene': 'KATNAL2', 'score': 550.31}, {'connected_gene': 'HAUS1', 'score': 10.88}, {'connected_gene': 'EPG5', 'score': 10.28}, {'connected_gene': 'HDHD2', 'score': 7.41}, {'connected_gene': 'ELOA3D', 'score': 0.37}, {'connected_gene': 'GC18P046926', 'score': 0.34}]
chr18	GH18I046898	46898798	46900105	0.38	[{'connected_gene': 'ELOA2', 'score': 10.37}, {'connected_gene': 'ELOA3', 'score': 10.37}, {'connected_gene': 'IER3IP1', 'score': 7.75}, {'connected_gene': 'HDHD2', 'score': 6.66}, {'connected_gene': 'ENSG00000279354', 'score': 0.37}, {'connected_gene': 'PIAS2', 'score': 0.34}, {'connected_gene': 'LOC100421737', 'score': 0.26}]
chr18	GH18I047174	47174649	47176999	1.98	[{'connected_gene': 'IER3IP1', 'score': 567.57}, {'connected_gene': 'ENSG00000267228', 'score': 550.77}, {'connected_gene': 'HDHD2', 'score': 23.77}, {'connected_gene': 'KATNAL2', 'score': 5.6}, {'connected_gene': 'GC18P047085', 'score': 0.16}]
chr18	GH18I046754	46754401	46758324	1.44	[{'connected_gene': 'LOC105372097', 'score': 567.23}, {'connected_gene': 'ST8SIA5', 'score': 550.77}, {'connected_gene': 'PIAS2', 'score': 10.39}, {'connected_gene': 'HDHD2', 'score': 6.55}, {'connected_gene': 'IER3IP1', 'score': 5.82}, {'connected_gene': 'RPS21P6', 'score': 0.29}]
chr18	GH18I047243	47243900	47244913	0.83	[{'connected_gene': 'GC18P047244', 'score': 550.77}, {'connected_gene': 'ENSG00000267724', 'score': 10.4}, {'connected_gene': 'HDHD2', 'score': 9.33}, {'connected_gene': 'PIAS2', 'score': 6.9}, {'connected_gene': 'SKOR2', 'score': 0.44}, {'connected_gene': 'GC18M047235', 'score': 0.44}, {'connected_gene': 'RNU6-1131P', 'score': 0.44}, {'connected_gene': 'GC18P047085', 'score': 0.1}]
chr18	GH18I047075	47075230	47075379	0.57	[{'connected_gene': 'ENSG00000280212', 'score': 550.77}, {'connected_gene': 'HDHD2', 'score': 6.56}, {'connected_gene': 'ELOA2', 'score': 0.28}, {'connected_gene': 'KATNAL2', 'score': 0.1}]
chr18	GH18I047184	47184671	47185156	0.87	[{'connected_gene': 'ENSG00000267724', 'score': 22.99}, {'connected_gene': 'HDHD2', 'score': 21.37}, {'connected_gene': 'IER3IP1', 'score': 19.77}, {'connected_gene': 'KATNAL2', 'score': 6.81}, {'connected_gene': 'GC18M047235', 'score': 0.25}, {'connected_gene': 'RNU6-1131P', 'score': 0.25}, {'connected_gene': 'GC18P047085', 'score': 0.15}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000300605	[[44633773, 44635156], [44639347, 44639411], [44641502, 44641719], [44656614, 44656699], [44660866, 44661075], [44662709, 44662820], [44676748, 44676891]]	[[44635052, 44635156], [44639347, 44639411], [44641502, 44641719], [44656614, 44656699], [44660866, 44661075], [44662709, 44662810]]
ENST00000588183	[[44633778, 44635156], [44639347, 44639411], [44641502, 44641719], [44656614, 44656699], [44660866, 44661075], [44662672, 44662820], [44676748, 44676871]]	[[44661048, 44661075], [44662672, 44662810]]
ENST00000588861	[[44633998, 44637227]]	None
ENST00000587841	[[44634748, 44635156], [44639347, 44639411], [44641502, 44641719], [44676748, 44676847]]	None
ENST00000590815	[[44641501, 44641719], [44656614, 44656699], [44660866, 44661075], [44662709, 44662820], [44663605, 44663709], [44676748, 44676830]]	[[44641501, 44641719], [44656614, 44656699], [44660866, 44661075], [44662709, 44662810]]
ENST00000591480	[[44641649, 44641719], [44656614, 44656699], [44660866, 44661048], [44662709, 44662820], [44676748, 44676869]]	[[44641649, 44641719], [44656614, 44656699], [44660866, 44661048], [44662709, 44662810]]
ENST00000586546	[[44641686, 44641719], [44660866, 44661075], [44662672, 44662820], [44663605, 44663667], [44676748, 44676864]]	[[44661048, 44661075], [44662672, 44662810]]
ENST00000590481	[[44656612, 44656699], [44660866, 44661075], [44662709, 44662820], [44675419, 44675479], [44676748, 44676850]]	[[44656612, 44656699], [44660866, 44661075], [44662709, 44662810]]
ENST00000588940	[[44656613, 44656699], [44660866, 44661075], [44662709, 44662820], [44676432, 44676572]]	[[44656613, 44656699], [44660866, 44661075], [44662709, 44662810]]
ENST00000591268	[[44656614, 44656699], [44660866, 44661075], [44662672, 44662820], [44676432, 44676566]]	[[44661048, 44661075], [44662672, 44662810]]
ENST00000587388	[[44656614, 44656699], [44660866, 44661075], [44662709, 44662820], [44663605, 44663667], [44676748, 44676847]]	[[44656614, 44656699], [44660866, 44661075], [44662709, 44662810]]
ENST00000592591	[[44656616, 44656699], [44660866, 44661048], [44662709, 44662820], [44663605, 44663667], [44676748, 44676869]]	[[44656616, 44656699], [44660866, 44661048], [44662709, 44662810]]
ENST00000591671	[[44660789, 44661075], [44662672, 44662820], [44676748, 44676871]]	None
NM_001318765	[[44633772, 44635156], [44639347, 44639411], [44641502, 44641719], [44656614, 44656699], [44660866, 44661075], [44662672, 44662820], [44676748, 44676891]]	[[44635052, 44635156], [44639347, 44639411], [44641502, 44641719], [44656614, 44656699], [44660866, 44660906]]
NM_032124	[[44633780, 44635156], [44639347, 44639411], [44641502, 44641719], [44656614, 44656699], [44660866, 44661075], [44662709, 44662820], [44676748, 44676871]]	[[44635052, 44635156], [44639347, 44639411], [44641502, 44641719], [44656614, 44656699], [44660866, 44661075], [44662709, 44662810]]