C7orf50

chromosome 7 open reading frame 50, the group of MicroRNA protein coding host genes

Basic information

Region (hg38): 7:996985-1138260

Links

ENSG00000146540 ∙ NCBI:84310 ∙ ∙ HGNC:22421 ∙ Uniprot:Q9BRJ6 ∙ 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 C7orf50 gene.

• Inborn genetic diseases (20 variants)
• not provided (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C7orf50 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				1		1
non coding			16	5	4	25
Total	0	0	18	5	4

Variants in C7orf50

This is a list of pathogenic ClinVar variants found in the C7orf50 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-1000467-C-T			Likely benign (Mar 01, 2022)
7-1000513-G-A		not specified	Uncertain significance (Jan 08, 2024)
7-1010065-G-C		not specified	Uncertain significance (Jun 23, 2021)
7-1057638-C-T			Benign (Mar 29, 2018)
7-1057737-G-C			Likely benign (Oct 01, 2022)
7-1057919-G-A			Likely benign (Oct 01, 2022)
7-1057959-C-T			Benign (Mar 29, 2018)
7-1058177-A-G			Likely benign (Feb 01, 2023)
7-1091742-C-T			Benign (May 10, 2018)
7-1091775-C-T			Benign (Apr 28, 2020)
7-1091816-G-A		not specified	Uncertain significance (Nov 07, 2022)
7-1091835-C-T		not specified	Uncertain significance (Sep 20, 2023)
7-1091861-G-A		not specified	Uncertain significance (Nov 14, 2023)
7-1091976-T-C		not specified	Uncertain significance (Apr 12, 2022)
7-1091999-A-T		not specified	Uncertain significance (Apr 12, 2022)
7-1092069-T-C		not specified	Uncertain significance (Mar 08, 2024)
7-1092218-C-T		not specified	Uncertain significance (Sep 01, 2021)
7-1092294-C-T		not specified	Uncertain significance (Dec 19, 2022)
7-1092311-G-A		not specified	Uncertain significance (Jul 13, 2021)
7-1092401-G-A		not specified	Uncertain significance (Dec 01, 2022)
7-1092418-C-G		not specified	Uncertain significance (Jun 16, 2023)
7-1092423-T-C		not specified	Uncertain significance (Feb 28, 2023)
7-1092459-C-T		not specified	Uncertain significance (Sep 07, 2022)
7-1092470-C-T		not specified	Uncertain significance (Jun 06, 2023)
7-1092536-G-A		not specified	Likely benign (Jul 09, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
C7orf50	protein_coding	protein_coding	ENST00000397098	4	141275

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000342	0.205	121098	61	4210	125369	0.0172

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.686	130	110	1.18	0.00000690	1214
Missense in Polyphen		33	30.783	1.072		338
Synonymous	-1.56	65	50.8	1.28	0.00000326	407
Loss of Function	-0.199	8	7.41	1.08	3.14e-7	99

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0139	0.0137
Ashkenazi Jewish	0.0168	0.0167
East Asian	0.00767	0.00742
Finnish	0.0250	0.0246
European (Non-Finnish)	0.0248	0.0238
Middle Eastern	0.00767	0.00742
South Asian	0.00967	0.00958
Other	0.0191	0.0186

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0992

Intolerance Scores

• loftool: 0.269
• rvis_EVS: 0.33
• rvis_percentile_EVS: 73.27

Haploinsufficiency Scores

• pHI: 0.0897
• hipred: N
• hipred_score: 0.170
• ghis: 0.561

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: 3110082I17Rik

Gene ontology

• Molecular function: RNA binding;protein binding