C17orf80

chromosome 17 open reading frame 80

Basic information

Region (hg38): 17:73232232-73248959

Links

ENSG00000141219 ∙ NCBI:55028 ∙ ∙ HGNC:29601 ∙ Uniprot:Q9BSJ5 ∙ 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 C17orf80 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C17orf80 gene is commonly pathogenic or not. These statistics are base on transcript: . 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						0
missense			5	1		6
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	5	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
C17orf80	protein_coding	protein_coding	ENST00000359042	4	16720

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.23e-7	0.814	125303	4	437	125744	0.00176

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.399	340	320	1.06	0.0000160	3960
Missense in Polyphen		144	135.3	1.0643		1795
Synonymous	-1.45	135	115	1.17	0.00000577	1187
Loss of Function	1.46	14	21.3	0.658	0.00000115	289

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00604	0.00604
Ashkenazi Jewish	0.00	0.00
East Asian	0.0128	0.0107
Finnish	0.000675	0.000601
European (Non-Finnish)	0.000533	0.000492
Middle Eastern	0.0128	0.0107
South Asian	0.000912	0.000719
Other	0.00356	0.00294

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0739

Intolerance Scores

• loftool: 0.445
• rvis_EVS: 0.65
• rvis_percentile_EVS: 84.15

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.123
• ghis: 0.473

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: D11Wsu47e

Gene ontology

• Biological process: biological_process
• Cellular component: integral component of membrane;extracellular exosome
• Molecular function: molecular_function