CLIP4

CAP-Gly domain containing linker protein family member 4, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 2:29097705-29199777

Previous symbols: [ "RSNL2" ]

Links

ENSG00000115295 ∙ NCBI:79745 ∙ ∙ HGNC:26108 ∙ Uniprot:Q8N3C7 ∙ 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 CLIP4 gene.

• not_specified (75 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CLIP4 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000024692.6. 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			75			75
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	75	0	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CLIP4	protein_coding	protein_coding	ENST00000320081	15	91939

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.90e-8	0.993	125699	0	49	125748	0.000195

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.455	358	383	0.935	0.0000196	4580
Missense in Polyphen		121	134.37	0.90051		1572
Synonymous	0.826	124	136	0.910	0.00000720	1384
Loss of Function	2.46	17	32.0	0.531	0.00000150	425

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000257	0.000257
Ashkenazi Jewish	0.00	0.00
East Asian	0.000382	0.000381
Finnish	0.000279	0.000277
European (Non-Finnish)	0.000205	0.000202
Middle Eastern	0.000382	0.000381
South Asian	0.000196	0.000196
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.103

Intolerance Scores

• loftool: 0.499
• rvis_EVS: -0.2
• rvis_percentile_EVS: 39.17

Haploinsufficiency Scores

• pHI: 0.171
• hipred: Y
• hipred_score: 0.557
• ghis: 0.503

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.232

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Clip4

Gene ontology

• Cellular component: intracellular membrane-bounded organelle
• Molecular function: protein binding