C7orf31

chromosome 7 open reading frame 31

Basic information

Region (hg38): 7:25134691-25180356

Links

ENSG00000153790 ∙ NCBI:136895 ∙ OMIM:616071 ∙ HGNC:21722 ∙ Uniprot:Q8N865 ∙ 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 C7orf31 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C7orf31 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 C7orf31

This is a list of pathogenic ClinVar variants found in the C7orf31 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-25136343-T-G		not specified	Uncertain significance (Apr 15, 2024)
7-25136669-C-T		not specified	Uncertain significance (Oct 21, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
C7orf31	protein_coding	protein_coding	ENST00000409280	9	45660

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.05e-11	0.686	125328	2	417	125747	0.00167

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.232	324	312	1.04	0.0000164	3862
Missense in Polyphen		101	92.196	1.0955		1114
Synonymous	0.198	111	114	0.976	0.00000632	1090
Loss of Function	1.49	20	28.6	0.699	0.00000159	362

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00553	0.00543
Ashkenazi Jewish	0.000497	0.000496
East Asian	0.0116	0.0116
Finnish	0.000141	0.000139
European (Non-Finnish)	0.000613	0.000607
Middle Eastern	0.0116	0.0116
South Asian	0.000553	0.000490
Other	0.00132	0.00130

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.989
• rvis_EVS: 1.32
• rvis_percentile_EVS: 94.06

Haploinsufficiency Scores

• pHI: 0.102
• hipred: N
• hipred_score: 0.123
• ghis: 0.402

Essentials

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

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: 4921507P07Rik

Gene ontology

• Cellular component: cytoplasm;centrosome
• Molecular function: protein binding