C17orf75

chromosome 17 open reading frame 75

Basic information

Region (hg38): 17:32324565-32350023

Links

ENSG00000108666 ∙ NCBI:64149 ∙ ∙ HGNC:30173 ∙ Uniprot:Q9HAS0 ∙ 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 C17orf75 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C17orf75 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			2			2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	2	0	0

Variants in C17orf75

This is a list of pathogenic ClinVar variants found in the C17orf75 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-32334830-A-G		not specified	Uncertain significance (Aug 18, 2021)
17-32341240-C-T		not specified	Uncertain significance (Aug 18, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
C17orf75	protein_coding	protein_coding	ENST00000577809	10	25459

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.337	0.663	124622	0	16	124638	0.0000642

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.831	169	202	0.835	0.00000978	2618
Missense in Polyphen		37	50.404	0.73407		669
Synonymous	0.327	66	69.5	0.950	0.00000328	705
Loss of Function	3.33	5	21.8	0.230	0.00000125	259

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.000111	0.000111
Finnish	0.0000949	0.0000928
European (Non-Finnish)	0.0000893	0.0000885
Middle Eastern	0.000111	0.000111
South Asian	0.0000343	0.0000327
Other	0.000165	0.000165

dbNSFP

Source: dbNSFP

• Function: FUNCTION: As component of the WDR11 complex acts together with TBC1D23 to facilitate the golgin-mediated capture of vesicles generated using AP-1 (PubMed:29426865). May have a role in spermatogenesis. {ECO:0000269|PubMed:29426865}.

Recessive Scores

• pRec: 0.0963

Haploinsufficiency Scores

• pHI: 0.470
• hipred: N
• hipred_score: 0.481
• ghis: 0.654

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: 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: 5730455P16Rik

Gene ontology

• Biological process: intracellular protein transport;vesicle tethering to Golgi
• Cellular component: trans-Golgi network;cytoplasmic vesicle
• Molecular function: molecular_function;protein binding