CABLES1

Cdk5 and Abl enzyme substrate 1

Basic information

Region (hg38): 18:23134563-23260470

Links

ENSG00000134508 ∙ NCBI:91768 ∙ OMIM:609194 ∙ HGNC:25097 ∙ Uniprot:Q8TDN4 ∙ 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 CABLES1 gene.

• Inborn genetic diseases (35 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CABLES1 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				1		1
missense			35	1		36
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	35	2	0

Variants in CABLES1

This is a list of pathogenic ClinVar variants found in the CABLES1 region.

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

Position	Type	Phenotype	Significance	ClinVar
18-23135800-G-A		not specified	Uncertain significance (Apr 12, 2023)
18-23135878-C-G		not specified	Uncertain significance (Jan 26, 2022)
18-23135913-C-A		not specified	Uncertain significance (Sep 22, 2023)
18-23135917-C-G		not specified	Uncertain significance (Apr 18, 2023)
18-23135919-C-T		not specified	Uncertain significance (Sep 22, 2022)
18-23135922-A-C		not specified	Uncertain significance (Sep 17, 2021)
18-23135926-C-G		not specified	Uncertain significance (Oct 16, 2023)
18-23135929-G-T		not specified	Uncertain significance (Jan 20, 2023)
18-23135941-G-A		not specified	Uncertain significance (Aug 02, 2022)
18-23135987-C-T			Likely benign (Jan 31, 2018)
18-23136001-C-T		not specified	Likely benign (Dec 14, 2023)
18-23136025-G-A		not specified	Uncertain significance (Nov 10, 2022)
18-23136027-G-A		not specified	Uncertain significance (Nov 07, 2023)
18-23136045-A-G		not specified	Uncertain significance (Sep 22, 2023)
18-23136057-G-A		not specified	Uncertain significance (Sep 06, 2022)
18-23136068-C-G		not specified	Uncertain significance (Jul 09, 2021)
18-23136201-C-T		not specified	Uncertain significance (Feb 13, 2024)
18-23136202-C-T		not specified	Uncertain significance (Nov 29, 2021)
18-23136240-C-T		not specified	Uncertain significance (Dec 06, 2022)
18-23136260-C-G		not specified	Uncertain significance (Dec 17, 2023)
18-23136274-G-A		not specified	Uncertain significance (Oct 05, 2021)
18-23136276-G-A		not specified	Uncertain significance (Jul 26, 2021)
18-23136289-C-T		not specified	Uncertain significance (Oct 26, 2021)
18-23136294-G-A			Likely benign (Apr 01, 2024)
18-23136304-A-T		not specified	Uncertain significance (Jul 09, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CABLES1	protein_coding	protein_coding	ENST00000256925	10	125904

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00550	0.994	125054	0	23	125077	0.0000919

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.73	190	270	0.704	0.0000158	4004
Missense in Polyphen		99	141.48	0.69973		1547
Synonymous	0.351	104	109	0.957	0.00000625	1328
Loss of Function	2.89	8	22.9	0.349	0.00000132	290

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000346	0.000342
Ashkenazi Jewish	0.000298	0.000298
East Asian	0.000111	0.000110
Finnish	0.00	0.00
European (Non-Finnish)	0.0000630	0.0000617
Middle Eastern	0.000111	0.000110
South Asian	0.000132	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Cyclin-dependent kinase binding protein. Enhances cyclin-dependent kinase tyrosine phosphorylation by nonreceptor tyrosine kinases, such as that of CDK5 by activated ABL1, which leads to increased CDK5 activity and is critical for neuronal development, and that of CDK2 by WEE1, which leads to decreased CDK2 activity and growth inhibition. Positively affects neuronal outgrowth. Plays a role as a regulator for p53/p73-induced cell death (By similarity). {ECO:0000250}.
• Pathway: Factors involved in megakaryocyte development and platelet production;Hemostasis;Validated transcriptional targets of TAp63 isoforms;Posttranslational regulation of adherens junction stability and dissassembly (Consensus)

Recessive Scores

• pRec: 0.109

Haploinsufficiency Scores

• pHI: 0.262
• hipred: Y
• hipred_score: 0.714
• ghis: 0.471

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.670

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cables1
• Phenotype: endocrine/exocrine gland phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); reproductive system phenotype; neoplasm; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan)

Zebrafish Information Network

• Gene name: cables1
• Affected structure: midbrain
• Phenotype tag: abnormal
• Phenotype quality: degenerate

Gene ontology

• Biological process: cell cycle;cell division;regulation of cell cycle
• Cellular component: nucleus;cytosol
• Molecular function: protein binding