CRABP1

cellular retinoic acid binding protein 1, the group of Fatty acid binding protein family

Basic information

Region (hg38): 15:78340353-78348225

Previous symbols: [ "RBP5" ]

Links

ENSG00000166426 ∙ NCBI:1381 ∙ OMIM:180230 ∙ HGNC:2338 ∙ Uniprot:P29762 ∙ 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 CRABP1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CRABP1 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			6			6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	0	0

Variants in CRABP1

This is a list of pathogenic ClinVar variants found in the CRABP1 region.

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

Position	Type	Phenotype	Significance	ClinVar
15-78341058-T-C		not specified	Uncertain significance (Jun 04, 2024)
15-78341153-A-C		not specified	Uncertain significance (Oct 20, 2021)
15-78341217-G-T		not specified	Uncertain significance (Jul 11, 2023)
15-78343533-A-T		not specified	Uncertain significance (Oct 18, 2021)
15-78343539-C-G		not specified	Uncertain significance (Oct 13, 2023)
15-78347939-G-A		not specified	Uncertain significance (Dec 06, 2022)
15-78347970-G-A		not specified	Uncertain significance (Aug 10, 2024)
15-78347972-G-C		not specified	Uncertain significance (Sep 22, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CRABP1	protein_coding	protein_coding	ENST00000299529	4	7907

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00588	0.745	125738	0	10	125748	0.0000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.797	64	84.6	0.756	0.00000443	894
Missense in Polyphen		17	28.58	0.59481		300
Synonymous	-0.0227	34	33.8	1.00	0.00000208	245
Loss of Function	0.831	4	6.24	0.641	2.64e-7	76

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000582	0.0000582
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000452	0.0000439
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000328	0.0000327
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Cytosolic CRABPs may regulate the access of retinoic acid to the nuclear retinoic acid receptors.
• Pathway: Vitamin A and Carotenoid Metabolism;Signal Transduction;RA biosynthesis pathway;Signaling by Retinoic Acid;Signaling by Nuclear Receptors (Consensus)

Recessive Scores

• pRec: 0.350

Intolerance Scores

• loftool: 0.311
• rvis_EVS: -0.16
• rvis_percentile_EVS: 41.25

Haploinsufficiency Scores

• pHI: 0.513
• hipred: Y
• hipred_score: 0.607
• ghis: 0.591

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0702

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Crabp1
• Phenotype: limbs/digits/tail phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); normal phenotype

Gene ontology

• Biological process: signal transduction;multicellular organism development;retinoic acid catabolic process
• Cellular component: cytosol
• Molecular function: retinoic acid binding;retinoid binding;protein binding;retinal binding;retinol binding