TUT7

terminal uridylyl transferase 7, the group of Terminal nucleotidyltransferases|Non-canonical poly(A) polymerases|Zinc fingers CCHC-type

Basic information

Region (hg38): 9:86287732-86354454

Previous symbols: [ "ZCCHC6" ]

Links

ENSG00000083223 ∙ NCBI:79670 ∙ OMIM:613467 ∙ HGNC:25817 ∙ Uniprot:Q5VYS8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TUT7 gene.

• Inborn genetic diseases (16 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TUT7 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			15	1	2	18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	1	2

Variants in TUT7

This is a list of pathogenic ClinVar variants found in the TUT7 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
9-86288729-T-G		not specified	Uncertain significance (Jul 19, 2023)
9-86301294-G-C		not specified	Uncertain significance (Dec 19, 2023)
9-86301383-T-G		not specified	Uncertain significance (Feb 15, 2023)
9-86301386-A-G		not specified	Uncertain significance (Oct 03, 2022)
9-86301435-T-A		not specified	Uncertain significance (Nov 18, 2022)
9-86301435-T-C		not specified	Likely benign (May 25, 2022)
9-86301590-C-T		not specified	Uncertain significance (Mar 07, 2024)
9-86301591-G-A		not specified	Uncertain significance (Aug 26, 2022)
9-86303134-A-G		not specified	Uncertain significance (Dec 21, 2023)
9-86303162-G-C		not specified	Uncertain significance (Jan 03, 2024)
9-86308570-A-G		not specified	Uncertain significance (May 05, 2023)
9-86309223-T-C		not specified	Uncertain significance (Sep 26, 2023)
9-86309515-A-G		not specified	Uncertain significance (Mar 01, 2024)
9-86318993-C-T		not specified	Uncertain significance (Sep 09, 2021)
9-86319641-G-C		not specified	Uncertain significance (Mar 17, 2023)
9-86323012-T-C		not specified	Uncertain significance (Sep 17, 2021)
9-86323028-C-T		not specified	Uncertain significance (May 08, 2023)
9-86323051-C-G		not specified	Uncertain significance (Jan 26, 2022)
9-86323157-T-C		not specified	Uncertain significance (Sep 12, 2023)
9-86323199-C-T			Benign (May 18, 2018)
9-86323203-C-G		not specified	Uncertain significance (Jul 14, 2021)
9-86323277-C-A		not specified	Uncertain significance (Dec 20, 2023)
9-86323312-T-A		not specified	Uncertain significance (Jun 02, 2023)
9-86323322-C-T		not specified	Uncertain significance (Jan 04, 2022)
9-86323411-T-C		not specified	Uncertain significance (Jan 23, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TUT7	protein_coding	protein_coding	ENST00000375963	26	66722

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	4.36e-10	125736	0	10	125746	0.0000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.73	558	772	0.723	0.0000385	9914
Missense in Polyphen		89	226.32	0.39325		2919
Synonymous	1.32	247	275	0.898	0.0000137	2716
Loss of Function	7.56	3	72.4	0.0414	0.00000366	988

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000333	0.000333
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000270	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Uridylyltransferase that mediates the terminal uridylation of mRNAs with short (less than 25 nucleotides) poly(A) tails, hence facilitating global mRNA decay (PubMed:19703396, PubMed:25480299). Essential for both oocyte maturation and fertility. Through 3' terminal uridylation of mRNA, sculpts, with TUT7, the maternal transcriptome by eliminating transcripts during oocyte growth (By similarity). Involved in microRNA (miRNA)- induced gene silencing through uridylation of deadenylated miRNA targets (PubMed:25480299). Also functions as an integral regulator of microRNA biogenesiS using 3 different uridylation mechanisms (PubMed:25979828). Acts as a suppressor of miRNA biogenesis by mediating the terminal uridylation of some miRNA precursors, including that of let-7 (pre-let-7). Uridylated pre-let-7 RNA is not processed by Dicer and undergo degradation. Pre-let-7 uridylation is strongly enhanced in the presence of LIN28A (PubMed:22898984). In the absence of LIN28A, TUT7 and TUT4 monouridylate group II pre-miRNAs, which includes most of pre-let7 members, that shapes an optimal 3' end overhang for efficient processing (PubMed:25979828, PubMed:28671666). Add oligo-U tails to truncated pre-miRNAS with a 5' overhang which may promote rapid degradation of non-fnctional pre-miRNA species (PubMed:25979828). Does not play a role in replication-dependent histone mRNA degradation (PubMed:18172165). Due to functional redundancy between ZCCHC6 and ZCCHC11, the identification of the specific role of each of these proteins is difficult (PubMed:25979828, PubMed:25480299, PubMed:19703396, PubMed:22898984, PubMed:18172165, PubMed:28671666). {ECO:0000250|UniProtKB:Q5BLK4, ECO:0000269|PubMed:18172165, ECO:0000269|PubMed:19703396, ECO:0000269|PubMed:22898984, ECO:0000269|PubMed:25480299, ECO:0000269|PubMed:25979828, ECO:0000269|PubMed:28671666}.

Intolerance Scores

• rvis_EVS: -0.68
• rvis_percentile_EVS: 15.38

Haploinsufficiency Scores

• pHI: 0.184
• hipred: Y
• hipred_score: 0.654
• ghis: 0.538

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Tut7

Zebrafish Information Network

• Gene name: tut7
• Affected structure: caudal fin
• Phenotype tag: abnormal
• Phenotype quality: malformed

Gene ontology

• Biological process: nuclear-transcribed mRNA poly(A) tail shortening;oocyte maturation;negative regulation of transposition, RNA-mediated;miRNA metabolic process;pre-miRNA processing;RNA 3'-end processing;histone mRNA catabolic process;RNA 3' uridylation;polyuridylation-dependent mRNA catabolic process
• Cellular component: nucleoplasm;cytoplasm;cytosol
• Molecular function: RNA binding;protein binding;zinc ion binding;miRNA binding;RNA uridylyltransferase activity;uridylyltransferase activity