C1QL4

complement C1q like 4, the group of C1q and TNF related

Basic information

Region (hg38): 12:49332409-49337188

Links

ENSG00000186897 ∙ NCBI:338761 ∙ OMIM:615229 ∙ HGNC:31416 ∙ Uniprot:Q86Z23 ∙ 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 C1QL4 gene.

• not_specified (37 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C1QL4 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001008223.2. 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						0
missense			36	1		37
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	36	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
C1QL4	protein_coding	protein_coding	ENST00000334221	2	4772

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.424	0.545	125566	0	9	125575	0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.811	117	144	0.810	0.00000846	1486
Missense in Polyphen		44	56.344	0.78091		546
Synonymous	0.173	62	63.8	0.973	0.00000453	512
Loss of Function	1.73	1	5.29	0.189	2.27e-7	56

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000971	0.0000922
Ashkenazi Jewish	0.00	0.00
East Asian	0.000220	0.000218
Finnish	0.00	0.00
European (Non-Finnish)	0.0000189	0.0000176
Middle Eastern	0.000220	0.000218
South Asian	0.0000355	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May regulate the number of excitatory synapses that are formed on hippocampus neurons. Has no effect on inhibitory synapses (By similarity). May inhibit adipocyte differentiation at an early stage of the process (By similarity). {ECO:0000250}.

Recessive Scores

• pRec: 0.122

Haploinsufficiency Scores

• pHI: 0.266
• hipred: Y
• hipred_score: 0.634
• ghis: 0.404

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.508

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: C1ql4

Gene ontology

• Biological process: negative regulation of fat cell differentiation;negative regulation of fibroblast proliferation;negative regulation of ERK1 and ERK2 cascade
• Cellular component: collagen trimer;extracellular space
• Molecular function: identical protein binding