Details of Drug Off-Target (DOT)

General Information of Drug Off-Target (DOT) (ID: OTOU43J4)

DOT Name	Uncharacterized protein C17orf107 (C17ORF107)
Gene Name	C17ORF107
Related Disease	Congenital myasthenic syndrome ( ) Congenital myasthenic syndrome 4A ( ) Hirschsprung disease ( )
UniProt ID	CQ107_HUMAN
3D Structure	Download 2D Sequence (FASTA) Download 3D Structure (PDB) Download
Pfam ID	PF17688
Sequence	MKGTPSSLDTLMWIYHFHSSTEVALQPPLLSSLELSVAAAHEYLEQRFRELKSLEPPEPK MQGMLPAPKPTLGLVLREATASLVSFGTTLLEISALWLQQEARRLDGSAGPAPDGRDPGA ALSRVAQAAGQGVRQAGAAVGASARLLVQGAWLCLCGRGLQGSASFLRQSQQQLGLGIPG EPVSSGHGVS

Molecular Interaction Atlas (MIA) of This DOT

3 Disease(s) Related to This DOT

Disease Name	Disease ID	Evidence Level	Mode of Inheritance
Congenital myasthenic syndrome	DISJLG2T	Strong	CausalMutation	[1]
Congenital myasthenic syndrome 4A	DISO8ZXF	moderate	CausalMutation	[2]
Hirschsprung disease	DISUUSM1	Limited	Biomarker	[3]
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Molecular Interaction Atlas (MIA)

Jump to Detail Molecular Interaction Atlas of This DOT

1 Drug(s) Affected the Post-Translational Modifications of This DOT

Drug Name	Drug ID	Highest Status	Interaction	REF
Valproate	DMCFE9I	Approved	Valproate increases the methylation of Uncharacterized protein C17orf107 (C17ORF107).	[4]
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1 Drug(s) Affected the Gene/Protein Processing of This DOT

Drug Name	Drug ID	Highest Status	Interaction	REF
Estradiol	DMUNTE3	Approved	Estradiol increases the expression of Uncharacterized protein C17orf107 (C17ORF107).	[5]
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References

1	A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome.J Neurol. 2018 Mar;265(3):708-713. doi: 10.1007/s00415-018-8736-8. Epub 2018 Jan 30.
2	A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family.Chin Med J (Engl). 2016 Nov 5;129(21):2596-2602. doi: 10.4103/0366-6999.192780.
3	Familial chronic megacolon presenting in childhood or adulthood: Seeking the presumed gene association.Neurogastroenterol Motil. 2019 Apr;31(4):e13550. doi: 10.1111/nmo.13550. Epub 2019 Jan 20.
4	Integrative omics data analyses of repeated dose toxicity of valproic acid in vitro reveal new mechanisms of steatosis induction. Toxicology. 2018 Jan 15;393:160-170.
5	17-Estradiol Activates HSF1 via MAPK Signaling in ER-Positive Breast Cancer Cells. Cancers (Basel). 2019 Oct 11;11(10):1533. doi: 10.3390/cancers11101533.