C1QTNF8

C1q and TNF related 8, the group of C1q and TNF related

Basic information

Region (hg38): 16:1088226-1096711

Links

ENSG00000184471 ∙ NCBI:390664 ∙ OMIM:614147 ∙ HGNC:31374 ∙ Uniprot:P60827 ∙ 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 C1QTNF8 gene.

• not_specified (60 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C1QTNF8 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000207419.3. 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			59	1		60
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	59	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
C1QTNF8	protein_coding	protein_coding	ENST00000328449	2	6240

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.30e-12	0.00189	123768	7	540	124315	0.00220

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.786	181	154	1.18	0.0000108	1549
Missense in Polyphen		54	40.595	1.3302		506
Synonymous	-0.0107	76	75.9	1.00	0.00000587	558
Loss of Function	-2.52	14	6.87	2.04	3.69e-7	70

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000733	0.000673
Ashkenazi Jewish	0.00	0.00
East Asian	0.000247	0.000163
Finnish	0.0200	0.0198
European (Non-Finnish)	0.000688	0.000648
Middle Eastern	0.000247	0.000163
South Asian	0.000527	0.000523
Other	0.00285	0.00279

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role as ligand of RXFP1. {ECO:0000269|PubMed:24014093}.

Recessive Scores

• pRec: 0.118

Haploinsufficiency Scores

• pHI: 0.163
• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.302

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Gene ontology

• Biological process: positive regulation of cell motility
• Cellular component: extracellular region;collagen trimer
• Molecular function: protein binding