C7orf57

chromosome 7 open reading frame 57

Basic information

Region (hg38): 7:48035510-48061304

Links

ENSG00000164746 ∙ NCBI:136288 ∙ ∙ HGNC:22247 ∙ Uniprot:Q8NEG2 ∙ 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 C7orf57 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C7orf57 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			3	1		4
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	3	1	0

Variants in C7orf57

This is a list of pathogenic ClinVar variants found in the C7orf57 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-48041435-G-A		not specified	Uncertain significance (Sep 16, 2021)
7-48043584-G-T		not specified	Uncertain significance (Dec 26, 2023)
7-48052799-C-A		not specified	Likely benign (Jul 20, 2021)
7-48052807-C-T		not specified	Uncertain significance (Oct 19, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
C7orf57	protein_coding	protein_coding	ENST00000348904	8	25794

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.04e-12	0.0261	124540	0	104	124644	0.000417

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.547	139	158	0.878	0.00000819	1888
Missense in Polyphen		56	63.409	0.88315		756
Synonymous	0.416	59	63.2	0.933	0.00000365	562
Loss of Function	-0.207	17	16.1	1.06	8.64e-7	191

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000677	0.000671
Ashkenazi Jewish	0.000101	0.0000994
East Asian	0.00334	0.00334
Finnish	0.00	0.00
European (Non-Finnish)	0.000153	0.000150
Middle Eastern	0.00334	0.00334
South Asian	0.000229	0.000229
Other	0.000331	0.000330

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0766

Intolerance Scores

• loftool: 0.831
• rvis_EVS: 1.04
• rvis_percentile_EVS: 91.26

Haploinsufficiency Scores

• pHI: 0.0817
• hipred: N
• hipred_score: 0.153

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	High
Cancer	High	Medium	High

Mouse Genome Informatics

• Gene name: Gm11992