C11orf65

chromosome 11 open reading frame 65

Basic information

Region (hg38): 11:108308519-108467531

Links

ENSG00000166323 ∙ NCBI:160140 ∙ ∙ HGNC:28519 ∙ Uniprot:Q8NCR3 ∙ 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 C11orf65 gene.

• not_specified (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C11orf65 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000152587.5. 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			2			2
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	2	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
C11orf65	protein_coding	protein_coding	ENST00000393084	8	159013

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.02e-14	0.00431	125497	0	248	125745	0.000987

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.370	148	161	0.918	0.00000748	2085
Missense in Polyphen		40	45.264	0.88371		577
Synonymous	0.904	43	51.2	0.839	0.00000235	535
Loss of Function	-0.804	19	15.6	1.22	7.38e-7	194

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00106	0.00105
Ashkenazi Jewish	0.00	0.00
East Asian	0.000115	0.000109
Finnish	0.000279	0.000277
European (Non-Finnish)	0.00173	0.00172
Middle Eastern	0.000115	0.000109
South Asian	0.000596	0.000588
Other	0.000496	0.000489

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0950

Intolerance Scores

• loftool: 0.632
• rvis_EVS: 0.66
• rvis_percentile_EVS: 84.44

Haploinsufficiency Scores

• pHI: 0.103
• hipred: N
• hipred_score: 0.123

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: 4930550C14Rik

Zebrafish Information Network

• Gene name: gb:co360592
• Affected structure: whole organism
• Phenotype tag: abnormal
• Phenotype quality: curved

Gene ontology

• Molecular function: protein binding