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
ENST00000216489	[[78138746, 78140584], [78141998, 78142192], [78146222, 78146313], [78161080, 78161243], [78170711, 78170820], [78174164, 78174363]]	[[78140154, 78140584], [78141998, 78142192], [78146222, 78146313], [78161080, 78161243], [78170711, 78170820], [78174164, 78174347]]
ENST00000557057	[[78139417, 78140584], [78141998, 78142192], [78146222, 78146313], [78170711, 78170820], [78174164, 78174353]]	[[78146254, 78146313], [78170711, 78170820], [78174164, 78174347]]
ENST00000555100	[[78140445, 78140584], [78141998, 78142137], [78146222, 78146313], [78170711, 78170820], [78174164, 78174335]]	[[78146254, 78146313], [78170711, 78170820], [78174164, 78174335]]
ENST00000554097	[[78158075, 78158325], [78161080, 78161243], [78170711, 78170795]]	None
NM_006020	[[78138748, 78140584], [78141998, 78142192], [78146222, 78146313], [78161080, 78161243], [78170711, 78170820], [78174164, 78174356]]	[[78140154, 78140584], [78141998, 78142192], [78146222, 78146313], [78161080, 78161243], [78170711, 78170820], [78174164, 78174347]]

Promoter

Chrom	Start	End	Description
chr14	78174344	78174381	CAGE_peak_1_at_ALKBH1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I077580	77580445	77583199	1.24	[{'connected_gene': 'SPTLC2', 'score': 27.14}, {'connected_gene': 'RPL21P10', 'score': 14.27}, {'connected_gene': 'ALKBH1', 'score': 12.8}, {'connected_gene': 'SNW1', 'score': 12.7}, {'connected_gene': 'VIPAS39', 'score': 12.33}, {'connected_gene': 'VASH1', 'score': 11.15}, {'connected_gene': 'ZMYND19P1', 'score': 11.12}, {'connected_gene': 'ENSG00000259081', 'score': 11.01}, {'connected_gene': 'RPL22P2', 'score': 10.64}, {'connected_gene': 'NGB', 'score': 9.83}, {'connected_gene': 'ANGEL1', 'score': 4.83}, {'connected_gene': 'RN7SL587P', 'score': 0.29}]
chr14	GH14I077614	77614894	77617550	2.23	[{'connected_gene': 'SPTLC2', 'score': 561.1}, {'connected_gene': 'SNW1', 'score': 46.87}, {'connected_gene': 'VIPAS39', 'score': 34.59}, {'connected_gene': 'ALKBH1', 'score': 34.59}, {'connected_gene': 'RPL22P2', 'score': 34.22}, {'connected_gene': 'ADCK1', 'score': 19.91}, {'connected_gene': 'ZMYND19P1', 'score': 19.89}, {'connected_gene': 'RPL21P10', 'score': 10.42}, {'connected_gene': 'IRF2BPL', 'score': 9.91}, {'connected_gene': 'RN7SL587P', 'score': 0.2}]
chr14	GH14I077003	77003662	77010833	1.26	[{'connected_gene': 'CIPC', 'score': 15.64}, {'connected_gene': 'SNW1', 'score': 13.85}, {'connected_gene': 'IRF2BPL', 'score': 12.61}, {'connected_gene': 'ALKBH1', 'score': 12.34}, {'connected_gene': 'GPATCH2L', 'score': 11.91}, {'connected_gene': 'VIPAS39', 'score': 11.12}, {'connected_gene': 'RPL22P2', 'score': 10.27}, {'connected_gene': 'LINC01629', 'score': 5.31}, {'connected_gene': 'GC14P077023', 'score': 0.37}, {'connected_gene': 'GC14M076985', 'score': 0.34}]
chr14	GH14I077096	77096274	77100655	2.3	[{'connected_gene': 'CIPC', 'score': 556.91}, {'connected_gene': 'ENSG00000259164', 'score': 550.77}, {'connected_gene': 'GC14M077096', 'score': 550.77}, {'connected_gene': 'SNW1', 'score': 36.28}, {'connected_gene': 'VIPAS39', 'score': 35.65}, {'connected_gene': 'ZMYND19P1', 'score': 25.8}, {'connected_gene': 'RPL22P2', 'score': 25.54}, {'connected_gene': 'ALKBH1', 'score': 24.46}, {'connected_gene': 'IRF2BPL', 'score': 23.56}, {'connected_gene': 'GPATCH2L', 'score': 22.56}, {'connected_gene': 'RPL21P10', 'score': 11.91}, {'connected_gene': 'POMT2', 'score': 10.9}, {'connected_gene': 'LINC02288', 'score': 4.73}, {'connected_gene': 'PIR36428', 'score': 0.39}]
chr14	GH14I077706	77706838	77710052	2.01	[{'connected_gene': 'SLIRP', 'score': 556.82}, {'connected_gene': 'ALKBH1', 'score': 550.77}, {'connected_gene': 'C14orf178', 'score': 5.05}, {'connected_gene': 'ADCK1', 'score': 4.66}]
chr14	GH14I077699	77699578	77699727	0.62	[{'connected_gene': 'SLIRP', 'score': 7.59}, {'connected_gene': 'ZMYND19P1', 'score': 0.77}, {'connected_gene': 'ALKBH1', 'score': 0.44}]
chr14	GH14I077021	77021582	77047176	3.06	[{'connected_gene': 'IRF2BPL', 'score': 577.43}, {'connected_gene': 'LOC105370579', 'score': 550.77}, {'connected_gene': 'SNW1', 'score': 32.59}, {'connected_gene': 'ALKBH1', 'score': 32.3}, {'connected_gene': 'RPL22P2', 'score': 31.25}, {'connected_gene': 'VIPAS39', 'score': 29.63}, {'connected_gene': 'POMT2', 'score': 29.33}, {'connected_gene': 'ZMYND19P1', 'score': 27.18}, {'connected_gene': 'GPATCH2L', 'score': 22.24}, {'connected_gene': 'RPL21P10', 'score': 20.39}, {'connected_gene': 'CIPC', 'score': 13.7}, {'connected_gene': 'ENSG00000259081', 'score': 11.08}, {'connected_gene': 'LINC02288', 'score': 8.25}, {'connected_gene': 'TMEM63C', 'score': 1.88}, {'connected_gene': 'VASH1', 'score': 1.72}, {'connected_gene': 'TMED8', 'score': 1.21}, {'connected_gene': 'LRRC74A', 'score': 1.11}, {'connected_gene': 'GC14P077024', 'score': 0.44}, {'connected_gene': 'ENSG00000273729', 'score': 0.44}, {'connected_gene': 'GC14P077023', 'score': 0.39}]
chr14	GH14I077301	77301832	77308334	1.39	[{'connected_gene': 'VIPAS39', 'score': 24.31}, {'connected_gene': 'IRF2BPL', 'score': 16.36}, {'connected_gene': 'GSTZ1', 'score': 15.6}, {'connected_gene': 'ALKBH1', 'score': 13.09}, {'connected_gene': 'NGB', 'score': 11.62}, {'connected_gene': 'MIR1260A', 'score': 11.22}, {'connected_gene': 'ZDHHC22', 'score': 10.98}, {'connected_gene': 'ENSG00000201384', 'score': 10.97}, {'connected_gene': 'SAMD15', 'score': 10.85}, {'connected_gene': 'TMED8', 'score': 10.85}, {'connected_gene': 'AHSA1', 'score': 10.53}, {'connected_gene': 'SNW1', 'score': 10.45}, {'connected_gene': 'RPL21P10', 'score': 10.32}, {'connected_gene': 'CIPC', 'score': 9.66}, {'connected_gene': 'POMT2', 'score': 6.49}, {'connected_gene': 'SPTLC2', 'score': 4.43}, {'connected_gene': 'PIR44060', 'score': 0.77}]
chr14	GH14I076767	76767379	76769592	1.23	[{'connected_gene': 'VIPAS39', 'score': 47.73}, {'connected_gene': 'SNW1', 'score': 37.99}, {'connected_gene': 'ALKBH1', 'score': 37.6}, {'connected_gene': 'ZMYND19P1', 'score': 36.1}, {'connected_gene': 'GPATCH2L', 'score': 33.25}, {'connected_gene': 'RPL22P2', 'score': 32.55}, {'connected_gene': 'IRF2BPL', 'score': 24.3}, {'connected_gene': 'RPL21P10', 'score': 20.19}, {'connected_gene': 'POMT2', 'score': 19.55}, {'connected_gene': 'ENSG00000259081', 'score': 16.72}, {'connected_gene': 'VASH1', 'score': 11.56}, {'connected_gene': 'IFT43', 'score': 10.29}, {'connected_gene': 'NGB', 'score': 9.8}, {'connected_gene': 'ENSG00000258610', 'score': 0.39}]
chr14	GH14I077799	77799518	77801050	2.04	[{'connected_gene': 'ADCK1', 'score': 556.76}, {'connected_gene': 'RPL21P10', 'score': 23.15}, {'connected_gene': 'C14orf178', 'score': 19.6}, {'connected_gene': 'ZMYND19P1', 'score': 12.9}, {'connected_gene': 'IRF2BPL', 'score': 11.12}, {'connected_gene': 'ALKBH1', 'score': 11.01}, {'connected_gene': 'SNW1', 'score': 9.92}, {'connected_gene': 'RPL22P2', 'score': 9.86}, {'connected_gene': 'ENSG00000199440', 'score': 0.34}, {'connected_gene': 'GC14M077822', 'score': 0.34}]
chr14	GH14I077729	77729867	77731913	0.38	[{'connected_gene': 'ADCK1', 'score': 38.52}, {'connected_gene': 'C14orf178', 'score': 26.47}, {'connected_gene': 'SNW1', 'score': 11.72}, {'connected_gene': 'SLIRP', 'score': 11.32}, {'connected_gene': 'ALKBH1', 'score': 11.32}, {'connected_gene': 'RPL21P10', 'score': 6.58}]
chr14	GH14I077681	77681204	77682517	0.86	[{'connected_gene': 'RPL21P10', 'score': 18.22}, {'connected_gene': 'ADCK1', 'score': 4.62}, {'connected_gene': 'GC14P077671', 'score': 0.39}, {'connected_gene': 'ALKBH1', 'score': 0.31}]
chr14	GH14I077674	77674918	77675147	0.2	[{'connected_gene': 'C14orf178', 'score': 20.88}, {'connected_gene': 'SLIRP', 'score': 5.02}, {'connected_gene': 'ADCK1', 'score': 4.62}, {'connected_gene': 'GC14P077671', 'score': 0.77}, {'connected_gene': 'RPL21P10', 'score': 0.44}, {'connected_gene': 'ALKBH1', 'score': 0.29}]
chr14	GH14I076949	76949601	76963502	2.35	[{'connected_gene': 'LINC01629', 'score': 69.23}, {'connected_gene': 'IRF2BPL', 'score': 24.74}, {'connected_gene': 'SNW1', 'score': 22.81}, {'connected_gene': 'ALKBH1', 'score': 15.29}, {'connected_gene': 'ZMYND19P1', 'score': 13.39}, {'connected_gene': 'RPL22P2', 'score': 13.22}, {'connected_gene': 'VIPAS39', 'score': 13.22}, {'connected_gene': 'VASH1', 'score': 11.45}, {'connected_gene': 'ENSG00000243225', 'score': 11.42}, {'connected_gene': 'LINC02288', 'score': 11.11}, {'connected_gene': 'ENSG00000259081', 'score': 11.08}, {'connected_gene': 'RPL21P10', 'score': 10.47}, {'connected_gene': 'GPATCH2L', 'score': 10.22}, {'connected_gene': 'ANGEL1', 'score': 4.47}, {'connected_gene': 'LRRC74A', 'score': 3.89}, {'connected_gene': 'ENSG00000259058', 'score': 0.29}]