TOE1 (target of EGR1, exonuclease)

Gene

• Entrez ID: 114034
• Gene name: Target of EGR1, exonuclease
• Gene symbol: TOE1
• Synonyms (NCBI Gene): PCH7, TOE-1, hCaf1z
• Chromosome: 1
• Chromosome location: 1p34.1

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs368182654	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs750266350	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs758153898	C>A,T	Pathogenic, likely-pathogenic	Synonymous variant, missense variant, coding sequence variant, non coding transcript variant
rs778263701	T>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs780563835	CA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1393167436	G>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1557531984	C>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1570621473	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1570621555	T>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT032323	hsa-let-7b-5p	Proteomics	18668040
MIRT044528	hsa-miR-320a	CLASH	23622248
MIRT2462127	hsa-miR-138	CLIP-seq
MIRT2462128	hsa-miR-142-5p	CLIP-seq
MIRT2462129	hsa-miR-4302	CLIP-seq
MIRT2462130	hsa-miR-4697-3p	CLIP-seq
MIRT2462131	hsa-miR-5095	CLIP-seq
MIRT2462132	hsa-miR-552	CLIP-seq
MIRT2462133	hsa-miR-764	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
EGR1	Unknown	19508870

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000175	Function	3'-5'-RNA exonuclease activity	IBA
GO:0000175	Function	3'-5'-RNA exonuclease activity	IDA	17178830
GO:0003676	Function	Nucleic acid binding	IEA
GO:0004535	Function	Poly(A)-specific ribonuclease activity	IDA	17178830
GO:0004535	Function	Poly(A)-specific ribonuclease activity	IEA
GO:0005515	Function	Protein binding	IPI	19508870, 32814053
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IDA	17178830
GO:0008270	Function	Zinc ion binding	IEA
GO:0015030	Component	Cajal body	IBA
GO:0015030	Component	Cajal body	IDA	17178830
GO:0016070	Process	RNA metabolic process	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0016607	Component	Nuclear speck	IEA
GO:0017069	Function	SnRNA binding	IBA
GO:0017069	Function	SnRNA binding	IDA	28092684
GO:0034472	Process	SnRNA 3'-end processing	IBA
GO:0034472	Process	SnRNA 3'-end processing	IMP	28092684
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 613931
• HGNC: 15954
• e!Ensembl: ENSG00000132773

Protein

• UniProt ID: Q96GM8
• Protein name: Target of EGR1 protein 1
• Protein function: Inhibits cell growth rate and cell cycle. Induces CDKN1A expression as well as TGF-beta expression. Mediates the inhibitory growth effect of EGR1. Involved in the maturation of snRNAs and snRNA 3'-tail processing (PubMed:28092684). {ECO:0000269|
• PDB: 2FC6
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04857	CAF1	39 → 172	CAF1 family ribonuclease	Family
  PF04857	CAF1	166 → 451	CAF1 family ribonuclease	Family
  PF00642	zf-CCCH	296 → 321	Zinc finger C-x8-C-x5-C-x3-H type (and similar)	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:28092684}.
• Sequence:

  MAADSDDGAVSAPAASDGGVSKSTTSGEELVVQVPVVDVQSNNFKEMWPSLLLAIKTANF
  VAVDTELSGLGDRKSLLNQCIEERYKAVCHAARTRSILSLGLACFKRQPDKGEHSYLAQV
  FNLTLLCMEEYVIEPKSVQFLIQHGFNFNQQYAQGIPYHKGNDKGDESQSQSVRTLFLEL
  IRARRPLVLHNGLIDLVFLYQNFYAHLPESLGTFTADLCEMFPAGIYDTKYAAEFHARFV
  ASYLEYAFRKCERENGKQRAAGSPHLTLEFCNYPSSMRDHIDYRCCLPPATHRPHPTSIC
  DNFSAYGWCPLGPQCPQSHDIDLIIDTDEAAAEDKRRRRRRREKRKRALLNLPGTQTSGE
  AKDGPPKKQVCGDSIKPEETEQEVAADETRNLPHSKQGNKNDLEMGIKAARPEIADRATS
  EVPGSQASPNPVPGDGLHRAGFDAFMTGYVMAYVEVSQGPQPCSSGPWLPECHNKVYLSG
  KAVPLTVAKSQFSRSSKAHNQKMKLTWGSS

• Sequence length: 510

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Pontocerebellar hypoplasia type 7	Likely pathogenic; Pathogenic	rs752569685, rs267598623, rs773776995, rs761932920, rs2149260739, rs1570621473, rs371848318, rs777030573, rs758153898, rs780563835, rs774056037, rs1570621555, rs778263701, rs1557531984, rs750266350, rs1570626350, rs779707076	RCV002221842 RCV001682617 RCV001678596 RCV001783889 RCV002251067 RCV000477732 RCV000477708 RCV000477747 RCV000477716 RCV000477688 RCV000851255 RCV000851258 RCV000851256 RCV000851252 RCV000851254 RCV000851253 RCV000851259 RCV001196657	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TOE1-related disorder	Likely pathogenic	rs2524802526, rs750266350	RCV003402521 RCV003892775	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CONGENITAL ABSENCE OF PART OF BRAIN	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HYPOPLASIA OF PART OF BRAIN	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL PONTOCEREBELLAR HYPOPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL PONTOCEREBELLAR HYPOPLASIA TYPE 7	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDRANENCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LISSENCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACROGYRIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROGYRIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PONTOCEREBELLAR HYPOPLASIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PONTOCEREBELLAR HYPOPLASIA, TYPE 7	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthralgia	Arthralgia	Pubtator	28173856	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	28173856	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	37635087	Associate	★☆☆☆☆ Found in Text Mining only
Brain Stem Neoplasms	Brain stem neoplasms	Pubtator	37635087	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital absence of penis	Absent penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pontocerebellar hypoplasia	Pontoneocerebellar hypoplasia	BEFREE	28092684		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital pontocerebellar hypoplasia	Pontoneocerebellar hypoplasia	GENOMICS_ENGLAND_DG	28092684		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital pontocerebellar hypoplasia	Pontoneocerebellar hypoplasia	CTD_human_DG	28092684		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital pontocerebellar hypoplasia type 7	Pontoneocerebellar hypoplasia	UNIPROT_DG	28092684		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital pontocerebellar hypoplasia type 7	Pontoneocerebellar hypoplasia	GENOMICS_ENGLAND_DG	28092684		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital pontocerebellar hypoplasia type 7	Pontoneocerebellar hypoplasia	ORPHANET_DG	28092684		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital pontocerebellar hypoplasia type 7	Pontoneocerebellar hypoplasia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital pontocerebellar hypoplasia type 7	Pontoneocerebellar hypoplasia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal Dysgenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophy of clitoris	Hypertrophy Of Clitoris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	CLINVAR_DG	16408224, 19725997		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculovestibuloauditory syndrome	Oculovestibuloauditory Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta Type VII	Osteogenesis imperfecta	Pubtator	30371886	Associate	★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	37635087	Associate	★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pontocerebellar hypoplasia type 7	Pontoneocerebellar hypoplasia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pontoneocerebellar hypoplasia	Pontoneocerebellar hypoplasia	BEFREE	28092684		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	37635087	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Telomeric 22q13 Monosomy Syndrome	22q13 monosomy syndrome	Pubtator	30371886	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	38165228	Associate	★☆☆☆☆ Found in Text Mining only