MTERF1

mitochondrial transcription termination factor 1

Basic information

Region (hg38): 7:91692008-91880702

Previous symbols: [ "MTERF" ]

Links

ENSG00000127989 ∙ NCBI:7978 ∙ OMIM:602318 ∙ HGNC:21463 ∙ Uniprot:Q99551 ∙ 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 MTERF1 gene.

• not_specified (48 variants)
• not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MTERF1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000006980.5. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			40	9	1	50
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	40	9	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MTERF1	protein_coding	protein_coding	ENST00000351870	2	188712

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.61e-7	0.526	125437	2	302	125741	0.00121

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.694	244	215	1.13	0.0000114	2634
Missense in Polyphen		80	73.298	1.0914		921
Synonymous	1.12	63	75.3	0.836	0.00000371	756
Loss of Function	0.837	11	14.4	0.762	0.00000102	166

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000843	0.000843
Ashkenazi Jewish	0.00	0.00
East Asian	0.000272	0.000272
Finnish	0.000277	0.000277
European (Non-Finnish)	0.00150	0.00150
Middle Eastern	0.000272	0.000272
South Asian	0.00333	0.00327
Other	0.000652	0.000652

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcription termination factor. Binds to a 28 bp region within the tRNA(Leu(uur)) gene at a position immediately adjacent to and downstream of the 16S rRNA gene; this region comprises a tridecamer sequence critical for directing accurate termination. Binds DNA along the major grove and promotes DNA bending and partial unwinding. Promotes base flipping. Transcription termination activity appears to be polarized with highest specificity for transcripts initiated on the light strand. {ECO:0000269|PubMed:20550934}.
• Pathway: Mitochondrial biogenesis;Mitochondrial Gene Expression;Gene expression (Transcription);Mitochondrial transcription termination;Transcription from mitochondrial promoters (Consensus)

Recessive Scores

• pRec: 0.0735

Intolerance Scores

• rvis_EVS: 0.4
• rvis_percentile_EVS: 76.31

Haploinsufficiency Scores

• pHI: 0.0780
• hipred: N
• hipred_score: 0.144
• ghis: 0.503

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Mthfs
• Phenotype: homeostasis/metabolism phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span)

Gene ontology

• Biological process: DNA-templated transcription, termination;regulation of transcription, DNA-templated;termination of mitochondrial transcription;mitochondrion organization;DNA geometric change
• Cellular component: mitochondrion;mitochondrial matrix;cytosol;mitochondrial nucleoid
• Molecular function: double-stranded DNA binding;RNA binding;protein binding