C9orf85

chromosome 9 open reading frame 85

Basic information

Region (hg38): 9:71911509-71986054

Links

ENSG00000155621 ∙ NCBI:138241 ∙ ∙ HGNC:28784 ∙ Uniprot:Q96MD7 ∙ 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 C9orf85 gene.

• Inborn genetic diseases (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C9orf85 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 C9orf85

This is a list of pathogenic ClinVar variants found in the C9orf85 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-71972717-G-A		not specified	Uncertain significance (Oct 18, 2021)
9-71972736-T-G		not specified	Uncertain significance (Jul 21, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
C9orf85	protein_coding	protein_coding	ENST00000334731	4	74545

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000322	0.364	125415	1	332	125748	0.00133

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0449	83	81.9	1.01	0.00000391	1067
Missense in Polyphen		27	24.408	1.1062		349
Synonymous	0.214	24	25.4	0.946	0.00000121	240
Loss of Function	0.158	7	7.46	0.938	4.08e-7	97

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00125	0.00125
Ashkenazi Jewish	0.0117	0.0116
East Asian	0.00	0.00
Finnish	0.000371	0.000370
European (Non-Finnish)	0.00130	0.00128
Middle Eastern	0.00	0.00
South Asian	0.000705	0.000686
Other	0.00167	0.00163

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0863

Intolerance Scores

• loftool: 0.556
• rvis_EVS: 0.35
• rvis_percentile_EVS: 73.97

Haploinsufficiency Scores

• pHI: 0.174
• hipred: N
• hipred_score: 0.231
• ghis: 0.471

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: 1110059E24Rik