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
ENST00000307650	[[691812, 692043], [692119, 692249], [697416, 697544], [697782, 697884], [698119, 698474]]	[[691991, 692043], [692119, 692249], [697416, 697544], [697782, 697884], [698119, 698190]]
ENST00000491999	[[691845, 692043], [692119, 692249], [696471, 696608], [697416, 697544], [697782, 697884], [698119, 698474]]	[[691991, 692043], [692119, 692249], [696471, 696487]]
ENST00000474840	[[691928, 692043], [692119, 692249], [697782, 697884], [698119, 698474]]	[[691991, 692043], [692119, 692249], [697782, 697828]]
ENST00000575894	[[696746, 698474]]	None
NM_001331230	[[691803, 692043], [697782, 697884], [698119, 698474]]	[[691991, 692043], [697782, 697884], [698119, 698190]]
NR_138605	[[691803, 692043], [697416, 697544], [697782, 697884], [698119, 698474]]	None
NR_138607	[[691803, 692043], [696471, 696608], [697416, 697544], [697782, 697884], [698119, 698474]]	None
NR_138606	[[691803, 692043], [692119, 692249], [697782, 697884], [698119, 698474]]	None
NM_001331229	[[691803, 692043], [692119, 692249], [697416, 697544], [698119, 698474]]	[[691991, 692043], [692119, 692249], [697416, 697544], [698119, 698190]]
NM_138418	[[691803, 692043], [692119, 692249], [697416, 697544], [697782, 697884], [698119, 698474]]	[[691991, 692043], [692119, 692249], [697416, 697544], [697782, 697884], [698119, 698190]]
NR_138608	[[691803, 692043], [692119, 692249], [696471, 696604], [697416, 697544], [697782, 697884], [698119, 698474]]	None
NR_138604	[[691803, 692043], [692119, 692249], [696471, 696608], [697416, 697544], [697782, 697884], [698119, 698474]]	None
NR_138609	[[692253, 692345], [696471, 696608], [697416, 697544], [697782, 697884], [698119, 698474]]	None
NR_138611	[[693053, 693144], [697416, 697544], [697782, 697884], [698119, 698474]]	None
NR_138610	[[693053, 693144], [696471, 696608], [697416, 697544], [697782, 697884], [698119, 698474]]	None

Promoter

Chrom	Start	End	Description
chr16	691792	691854	CAGE_peak_1_at_FAM195A_5end
chr16	691903	691961	CAGE_peak_2_at_FAM195A_5end
chr16	692421	692454	CAGE_peak_3_at_FAM195A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I000635	635034	639110	2.3	[{'connected_gene': 'METTL26', 'score': 596.68}, {'connected_gene': 'GC16P000992', 'score': 550.77}, {'connected_gene': 'TRG-CCC2-2', 'score': 550.77}, {'connected_gene': 'LOC100287175', 'score': 550.77}, {'connected_gene': 'MCRIP2', 'score': 550.77}, {'connected_gene': 'WFIKKN1', 'score': 40.01}, {'connected_gene': 'CRAMP1', 'score': 25.06}, {'connected_gene': 'NARFL', 'score': 19.97}, {'connected_gene': 'ENSG00000269482', 'score': 19.37}, {'connected_gene': 'ENSG00000268836', 'score': 19.35}, {'connected_gene': 'WDR90', 'score': 15.99}, {'connected_gene': 'ENSG00000260646', 'score': 15.3}, {'connected_gene': 'WDR24', 'score': 14.88}, {'connected_gene': 'CCDC154', 'score': 14.36}, {'connected_gene': 'IFT140', 'score': 13.16}, {'connected_gene': 'LUC7L', 'score': 12.49}, {'connected_gene': 'UBE2I', 'score': 11.95}, {'connected_gene': 'TELO2', 'score': 11.94}, {'connected_gene': 'ENSG00000228779', 'score': 11.68}, {'connected_gene': 'C16orf91', 'score': 11.02}, {'connected_gene': 'JMJD8', 'score': 10.91}, {'connected_gene': 'UNKL', 'score': 10.36}, {'connected_gene': 'ENSG00000260425', 'score': 9.94}, {'connected_gene': 'RGS11', 'score': 9.89}, {'connected_gene': 'RPUSD1', 'score': 5.12}, {'connected_gene': 'RHBDL1', 'score': 4.91}, {'connected_gene': 'GC16M000639', 'score': 0.77}]
chr16	GH16I001081	1081672	1084474	1.46	[{'connected_gene': 'LUC7L', 'score': 23.42}, {'connected_gene': 'IFT140', 'score': 20.52}, {'connected_gene': 'TSC2', 'score': 15.59}, {'connected_gene': 'ENSG00000269482', 'score': 14.74}, {'connected_gene': 'WDR90', 'score': 14.57}, {'connected_gene': 'CRAMP1', 'score': 13.57}, {'connected_gene': 'WDR24', 'score': 13.36}, {'connected_gene': 'NME3', 'score': 13.09}, {'connected_gene': 'CCDC154', 'score': 12.79}, {'connected_gene': 'TELO2', 'score': 12.53}, {'connected_gene': 'ENSG00000262528', 'score': 12.22}, {'connected_gene': 'ENSG00000268836', 'score': 11.4}, {'connected_gene': 'PIGQ', 'score': 11.14}, {'connected_gene': 'EME2', 'score': 10.56}, {'connected_gene': 'UBE2I', 'score': 10.07}, {'connected_gene': 'NUBP2', 'score': 10.03}, {'connected_gene': 'UNKL', 'score': 9.83}, {'connected_gene': 'SSTR5-AS1', 'score': 9.19}, {'connected_gene': 'LOC105371038', 'score': 6.44}, {'connected_gene': 'SSTR5', 'score': 5.34}, {'connected_gene': 'CACNA1H', 'score': 1.75}, {'connected_gene': 'RAB40C', 'score': 1.72}, {'connected_gene': 'MCRIP2', 'score': 1.22}, {'connected_gene': 'C1QTNF8', 'score': 0.39}]
chr16	GH16I000640	640487	650623	2.28	[{'connected_gene': 'WDR90', 'score': 568.85}, {'connected_gene': 'GC16P000998', 'score': 550.77}, {'connected_gene': 'MCRIP2', 'score': 550.44}, {'connected_gene': 'IFT140', 'score': 40.86}, {'connected_gene': 'LUC7L', 'score': 34.98}, {'connected_gene': 'ENSG00000262528', 'score': 33.53}, {'connected_gene': 'WFIKKN1', 'score': 26.26}, {'connected_gene': 'CRAMP1', 'score': 22.83}, {'connected_gene': 'UBE2I', 'score': 18.5}, {'connected_gene': 'RHBDL1', 'score': 18.26}, {'connected_gene': 'WDR24', 'score': 16.88}, {'connected_gene': 'ENSG00000269482', 'score': 14.74}, {'connected_gene': 'JMJD8', 'score': 13.8}, {'connected_gene': 'LOC105371184', 'score': 12.96}, {'connected_gene': 'CCDC154', 'score': 12.76}, {'connected_gene': 'TELO2', 'score': 12.51}, {'connected_gene': 'ENSG00000260646', 'score': 12.26}, {'connected_gene': 'ENSG00000268836', 'score': 11.42}, {'connected_gene': 'PIGQ', 'score': 11.3}, {'connected_gene': 'WASH4P', 'score': 10.63}, {'connected_gene': 'UNKL', 'score': 9.8}, {'connected_gene': 'MRPL28', 'score': 5.02}, {'connected_gene': 'LOC105371038', 'score': 0.77}, {'connected_gene': 'GC16M000639', 'score': 0.77}, {'connected_gene': 'PIR38349', 'score': 0.44}]