C10orf71

chromosome 10 open reading frame 71

Basic information

Region (hg38): 10:49299170-49327492

Links

ENSG00000177354 ∙ NCBI:118461 ∙ ∙ HGNC:26973 ∙ Uniprot:Q711Q0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• dilated cardiomyopathy (Limited), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the C10orf71 gene.

• not_specified (15 variants)
• not_provided (3 variants)
• CARDIOMYOPATHY,_DILATED,_1QQ (3 variants)
• Primary_dilated_cardiomyopathy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C10orf71 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001135196.2. 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					1	1
missense			14	1	2	17
nonsense						0
start loss						0
frameshift	3		1			4
splice donor/acceptor (+/-2bp)						0
Total	3	0	15	1	3

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
C10orf71	protein_coding	protein_coding	ENST00000374144	1	28351

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.96e-9	0.992	124620	0	38	124658	0.000152

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.687	765	820	0.933	0.0000463	9335
Missense in Polyphen		203	248.71	0.8162		3134
Synonymous	1.10	322	348	0.925	0.0000219	2957
Loss of Function	2.49	20	36.2	0.553	0.00000177	455

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000457	0.000455
Ashkenazi Jewish	0.00	0.00
East Asian	0.000224	0.000222
Finnish	0.0000481	0.0000464
European (Non-Finnish)	0.000125	0.000124
Middle Eastern	0.000224	0.000222
South Asian	0.000235	0.000229
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays an important role in cardiomyocyte hypertrophy via activation of the calcineurin/NFAT signaling pathway. {ECO:0000250|UniProtKB:M0RD54}.

Intolerance Scores

• loftool: 0.779
• rvis_EVS: 2.59
• rvis_percentile_EVS: 98.76

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.145
• ghis: 0.393

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• 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: 3425401B19Rik