C7orf50

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

Basic information

Region (hg38): 7:996986-1138260

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.

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. These statistics are base on transcript: . 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
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