C4orf51

chromosome 4 open reading frame 51

Basic information

Region (hg38): 4:145680145-145771032

Links

ENSG00000237136 ∙ NCBI:646603 ∙ ∙ HGNC:37264 ∙ Uniprot:C9J302 ∙ 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 C4orf51 gene.

• Inborn genetic diseases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C4orf51 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			1			1
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	1	0	0

Variants in C4orf51

This is a list of pathogenic ClinVar variants found in the C4orf51 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-145729197-G-A		not specified	Uncertain significance (Jul 06, 2021)
4-145764998-C-T		not specified	Uncertain significance (Mar 02, 2023)
4-145765160-C-T		not specified	Uncertain significance (Dec 21, 2023)
4-145765592-G-A		not specified	Uncertain significance (Aug 14, 2023)
4-145765709-T-C		not specified	Uncertain significance (Dec 27, 2023)
4-145765711-G-A		not specified	Uncertain significance (Oct 29, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
C4orf51	protein_coding	protein_coding	ENST00000438731	6	90829

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000603	0.468	124222	5	411	124638	0.00167

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.252	114	107	1.07	0.00000549	1301
Missense in Polyphen		22	24.73	0.88962		310
Synonymous	-1.18	48	38.7	1.24	0.00000198	376
Loss of Function	0.592	9	11.1	0.809	5.43e-7	129

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0127	0.0127
Ashkenazi Jewish	0.00119	0.00119
East Asian	0.00122	0.00122
Finnish	0.0000464	0.0000464
European (Non-Finnish)	0.00104	0.00104
Middle Eastern	0.00122	0.00122
South Asian	0.000593	0.000588
Other	0.00298	0.00281

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.481
• rvis_EVS: 0.64
• rvis_percentile_EVS: 83.78

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.145

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: 1700011L22Rik