DMAC1

distal membrane arm assembly component 1, the group of Mitochondrial respiratory chain complex assembly factors

Basic information

Region (hg38): 9:7796500-7888380

Previous symbols: [ "C9orf123", "TMEM261" ]

Links

ENSG00000137038 ∙ NCBI:90871 ∙ OMIM:617261 ∙ HGNC:30536 ∙ Uniprot:Q96GE9 ∙ 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 DMAC1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DMAC1 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 DMAC1

This is a list of pathogenic ClinVar variants found in the DMAC1 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-7799478-T-C		not specified	Uncertain significance (Jun 21, 2021)
9-7799481-G-A		not specified	Uncertain significance (Oct 14, 2021)
9-7799581-C-A		not specified	Uncertain significance (Jul 25, 2023)
9-7799610-C-T		not specified	Uncertain significance (Sep 16, 2021)
9-7799619-G-C		not specified	Uncertain significance (Jan 17, 2024)
9-7799631-G-A		not specified	Uncertain significance (Jul 25, 2023)
9-7799640-G-A		not specified	Uncertain significance (Jun 16, 2024)
9-7799640-G-T		not specified	Uncertain significance (Sep 03, 2024)
9-7799641-G-A		not specified	Uncertain significance (Jul 17, 2024)
9-7799647-C-A		not specified	Uncertain significance (May 27, 2022)
9-7799664-G-C		not specified	Uncertain significance (May 20, 2024)
9-7799673-G-C		not specified	Uncertain significance (Dec 03, 2024)
9-7799679-G-C		not specified	Uncertain significance (Dec 04, 2024)
9-7799680-T-C		not specified	Likely benign (Jul 02, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DMAC1	protein_coding	protein_coding	ENST00000358227	2	91891

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00542	0.492	125644	0	7	125651	0.0000279

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.895	93	71.7	1.30	0.00000354	702
Missense in Polyphen		17	20.725	0.82025		218
Synonymous	-1.38	39	29.5	1.32	0.00000149	246
Loss of Function	-0.154	3	2.73	1.10	1.15e-7	35

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000638	0.0000616
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000443	0.0000440
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Required for the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Involved in the assembly of the distal region of complex I. {ECO:0000269|PubMed:27626371}.

Recessive Scores

• pRec: 0.0660

Intolerance Scores

• rvis_EVS: 0.17
• rvis_percentile_EVS: 65.56

Haploinsufficiency Scores

• pHI: 0.0297
• hipred: N
• hipred_score: 0.123
• ghis: 0.466

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Dmac1

Gene ontology

• Biological process: mitochondrial respiratory chain complex I assembly
• Cellular component: mitochondrial inner membrane;mitochondrial respiratory chain complex I;integral component of membrane