TMEM183A

transmembrane protein 183A

Basic information

Region (hg38): 1:203007373-203024848

Previous symbols: [ "C1orf37" ]

Links

ENSG00000163444 ∙ NCBI:92703 ∙ ∙ HGNC:20173 ∙ Uniprot:Q8IXX5 ∙ 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 TMEM183A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM183A 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				1		1
missense			18	1		19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	2	0

Variants in TMEM183A

This is a list of pathogenic ClinVar variants found in the TMEM183A region.

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

Position	Type	Phenotype	Significance	ClinVar
1-203007469-G-C		not specified	Uncertain significance (Jan 09, 2024)
1-203007470-C-G		not specified	Uncertain significance (Dec 15, 2022)
1-203007470-C-T		not specified	Uncertain significance (Feb 28, 2023)
1-203007479-C-G		not specified	Uncertain significance (Jun 13, 2023)
1-203007500-G-A		not specified	Uncertain significance (Aug 19, 2023)
1-203007502-C-G		not specified	Uncertain significance (Jan 24, 2023)
1-203007506-A-G		not specified	Uncertain significance (Apr 25, 2022)
1-203007539-T-C		not specified	Uncertain significance (Oct 14, 2023)
1-203007568-G-T		not specified	Uncertain significance (May 08, 2023)
1-203007774-T-A		not specified	Uncertain significance (May 07, 2024)
1-203008668-C-T			Likely benign (Jul 01, 2022)
1-203008765-C-T		not specified	Uncertain significance (Aug 04, 2023)
1-203008766-A-T		not specified	Uncertain significance (Sep 14, 2022)
1-203008781-C-G		not specified	Uncertain significance (Oct 10, 2023)
1-203014922-C-T		not specified	Uncertain significance (Apr 07, 2023)
1-203015979-T-A		not specified	Uncertain significance (Nov 08, 2022)
1-203016141-G-A		Malignant tumor of prostate	Uncertain significance (-)
1-203020814-T-C		not specified	Uncertain significance (Nov 09, 2023)
1-203020833-C-T		not specified	Uncertain significance (May 12, 2024)
1-203022874-C-T		not specified	Uncertain significance (Dec 13, 2023)
1-203022898-G-A		not specified	Uncertain significance (Oct 12, 2022)
1-203022925-A-G		not specified	Likely benign (Dec 08, 2023)
1-203022942-C-T		not specified	Uncertain significance (Jul 13, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM183A	protein_coding	protein_coding	ENST00000367242	8	17463

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.700	0.300	124512	0	18	124530	0.0000723

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.41	158	216	0.731	0.0000118	2430
Missense in Polyphen		17	42.602	0.39904		573
Synonymous	0.447	76	81.1	0.937	0.00000427	741
Loss of Function	3.49	4	21.5	0.186	0.00000131	215

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000355	0.000355
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000632	0.0000629
Middle Eastern	0.00	0.00
South Asian	0.0000654	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.113

Intolerance Scores

• loftool: 0.461
• rvis_EVS: -0.01
• rvis_percentile_EVS: 53.19

Haploinsufficiency Scores

• hipred: Y
• hipred_score: 0.673
• ghis: 0.541

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.700

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Tmem183a

Gene ontology

• Cellular component: integral component of membrane
• Molecular function: protein binding