RAMAC

RNA guanine-7 methyltransferase activating subunit

Basic information

Region (hg38): 15:82986210-82991057

Previous symbols: [ "FAM103A1", "RAMMET" ]

Links

ENSG00000169612 ∙ NCBI:83640 ∙ OMIM:614547 ∙ HGNC:31022 ∙ Uniprot:Q9BTL3 ∙ 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 RAMAC gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RAMAC 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			8			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	0	0

Variants in RAMAC

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

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

Position	Type	Phenotype	Significance	ClinVar
15-82989090-G-T		not specified	Uncertain significance (Dec 26, 2023)
15-82989184-A-C		not specified	Uncertain significance (May 14, 2024)
15-82989185-A-G		not specified	Uncertain significance (May 06, 2024)
15-82989888-G-A		not specified	Uncertain significance (Jul 30, 2023)
15-82989921-T-G		not specified	Uncertain significance (May 24, 2024)
15-82989930-C-T		not specified	Uncertain significance (May 14, 2024)
15-82989943-G-A		not specified	Uncertain significance (Feb 06, 2023)
15-82989956-G-T		not specified	Uncertain significance (Nov 22, 2021)
15-82989977-C-A		not specified	Uncertain significance (Jul 12, 2022)
15-82990029-T-C		not specified	Uncertain significance (Aug 30, 2022)
15-82990056-G-A		not specified	Uncertain significance (Oct 04, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RAMAC	protein_coding	protein_coding	ENST00000304191	2	4851

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00840	0.809	125614	0	9	125623	0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.674	79	63.8	1.24	0.00000343	776
Missense in Polyphen		9	12.539	0.71779		162
Synonymous	1.33	14	21.9	0.639	0.00000119	199
Loss of Function	1.04	4	6.97	0.574	4.54e-7	59

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000123	0.000123
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000267	0.0000264
Middle Eastern	0.000109	0.000109
South Asian	0.0000662	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Regulatory subunit of the mRNA-capping methyltransferase RNMT:RAMAC complex that methylates the N7 position of the added guanosine to the 5'-cap structure of mRNAs (PubMed:22099306, PubMed:27422871). Promotes the recruitment of the methyl donor, S- adenosyl-L-methionine, to RNMT (PubMed:27422871). Regulates RNMT expression by a post-transcriptional stabilizing mechanism (PubMed:22099306). Binds RNA (PubMed:22099306). {ECO:0000269|PubMed:22099306, ECO:0000269|PubMed:27422871}.

Recessive Scores

• pRec: 0.107

Intolerance Scores

• rvis_EVS: 0.26
• rvis_percentile_EVS: 70.06

Haploinsufficiency Scores

• pHI: 0.0914
• hipred: N
• hipred_score: 0.364
• ghis: 0.544

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Ramac

Gene ontology

• Biological process: 7-methylguanosine mRNA capping;methylation;recruitment of mRNA capping enzyme to RNA polymerase II holoenzyme complex;RNA 5'-cap (guanine-N7)-methylation
• Cellular component: nucleus;nucleoplasm;mRNA cap binding complex;mRNA cap methyltransferase complex
• Molecular function: RNA binding;mRNA (guanine-N7-)-methyltransferase activity;protein binding