TMEM80

transmembrane protein 80

Basic information

Region (hg38): 11:695591-705028

Links

ENSG00000177042 ∙ NCBI:283232 ∙ OMIM:620248 ∙ HGNC:27453 ∙ Uniprot:Q96HE8 ∙ 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 TMEM80 gene.

• not_specified (34 variants)
• not_provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM80 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001042463.3. 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				2		2
missense			30	5		35
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	30	7	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM80	protein_coding	protein_coding	ENST00000608174	5	9601

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.52e-9	0.0167	125685	0	63	125748	0.000251

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.442	74	85.5	0.865	0.00000545	1024
Missense in Polyphen		25	33.21	0.75279		403
Synonymous	-1.39	57	45.2	1.26	0.00000340	388
Loss of Function	-1.94	10	5.21	1.92	2.21e-7	78

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000391	0.000391
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000380	0.000378
Middle Eastern	0.0000544	0.0000544
South Asian	0.000196	0.000196
Other	0.000660	0.000652

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.271
• rvis_EVS: 0.35
• rvis_percentile_EVS: 74.18

Haploinsufficiency Scores

• pHI: 0.231
• hipred: N
• hipred_score: 0.148
• ghis: 0.448

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00408

Mouse Genome Informatics

• Gene name: Tmem80

Gene ontology

• Biological process: non-motile cilium assembly
• Cellular component: integral component of membrane;ciliary transition zone