C1QTNF7

C1q and TNF related 7, the group of C1q and TNF related

Basic information

Region (hg38): 4:15339817-15446167

Links

ENSG00000163145 ∙ NCBI:114905 ∙ ∙ HGNC:14342 ∙ Uniprot:Q9BXJ2 ∙ 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 C1QTNF7 gene.

• Inborn genetic diseases (16 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C1QTNF7 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			16			16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	0	0

Variants in C1QTNF7

This is a list of pathogenic ClinVar variants found in the C1QTNF7 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-15435743-G-C		not specified	Uncertain significance (Jul 26, 2021)
4-15435788-T-G		not specified	Uncertain significance (Sep 01, 2021)
4-15435798-C-T		not specified	Uncertain significance (Feb 21, 2024)
4-15435879-C-G		not specified	Uncertain significance (Aug 02, 2023)
4-15435895-C-G		not specified	Uncertain significance (Jan 08, 2024)
4-15435897-C-T		not specified	Uncertain significance (Sep 13, 2023)
4-15435907-A-C		not specified	Uncertain significance (Jun 01, 2023)
4-15435913-G-A		not specified	Uncertain significance (Nov 08, 2021)
4-15435945-G-A		not specified	Uncertain significance (Jun 21, 2023)
4-15442264-A-T		not specified	Uncertain significance (Mar 22, 2023)
4-15442287-C-G		not specified	Uncertain significance (Jun 29, 2023)
4-15442330-G-A		not specified	Uncertain significance (Dec 17, 2021)
4-15442347-A-G		not specified	Uncertain significance (Nov 09, 2021)
4-15442389-A-G		not specified	Uncertain significance (May 31, 2023)
4-15442427-A-G		not specified	Uncertain significance (Aug 17, 2021)
4-15442525-T-C		not specified	Uncertain significance (Jan 04, 2022)
4-15442596-G-A		not specified	Uncertain significance (Jun 06, 2022)
4-15442649-G-T		not specified	Uncertain significance (Aug 02, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
C1QTNF7	protein_coding	protein_coding	ENST00000295297	3	106349

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000898	0.568	125727	0	21	125748	0.0000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.731	142	169	0.842	0.00000894	1907
Missense in Polyphen		53	83.023	0.63838		899
Synonymous	0.903	58	67.4	0.860	0.00000412	616
Loss of Function	0.622	7	9.01	0.777	3.77e-7	132

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000210	0.000210
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.0000925	0.0000924
European (Non-Finnish)	0.0000808	0.0000791
Middle Eastern	0.0000544	0.0000544
South Asian	0.000103	0.0000980
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.121

Intolerance Scores

• loftool: 0.104
• rvis_EVS: -0.56
• rvis_percentile_EVS: 19.54

Haploinsufficiency Scores

• pHI: 0.499
• hipred: N
• hipred_score: 0.231
• ghis: 0.591

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.307

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: C1qtnf7
• Phenotype: homeostasis/metabolism phenotype; liver/biliary system phenotype; hematopoietic system phenotype; immune system phenotype

Gene ontology

• Cellular component: extracellular region;collagen trimer