AJAP1

adherens junctions associated protein 1

Basic information

Region (hg38): 1:4654609-4792534

Links

ENSG00000196581 ∙ NCBI:55966 ∙ OMIM:610972 ∙ HGNC:30801 ∙ Uniprot:Q9UKB5 ∙ 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 AJAP1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AJAP1 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			25		2	27
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				1		1
Total	0	0	25	1	2

Variants in AJAP1

This is a list of pathogenic ClinVar variants found in the AJAP1 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-4711890-C-T			Likely benign (Jul 02, 2018)
1-4711914-G-T		not specified	Uncertain significance (May 14, 2024)
1-4711974-C-T			Benign (Feb 25, 2018)
1-4712033-C-T		not specified	Uncertain significance (Feb 10, 2022)
1-4712036-T-C		not specified	Likely benign (Apr 20, 2024)
1-4712121-C-T		not specified	Uncertain significance (Jul 12, 2023)
1-4712124-G-T		not specified	Uncertain significance (Dec 01, 2022)
1-4712163-C-T		not specified	Uncertain significance (Oct 12, 2021)
1-4712184-G-A		not specified	Uncertain significance (Nov 14, 2024)
1-4712237-G-A		not specified	Uncertain significance (Apr 17, 2023)
1-4712268-C-T		not specified	Uncertain significance (Feb 13, 2024)
1-4712274-C-T		not specified	Uncertain significance (Mar 15, 2024)
1-4712295-C-T		not specified	Uncertain significance (Dec 04, 2023)
1-4712318-G-A		not specified	Uncertain significance (Jan 08, 2024)
1-4712328-G-T		not specified	Uncertain significance (Jan 04, 2022)
1-4712344-C-A		not specified	Uncertain significance (Jul 31, 2024)
1-4712368-C-G		not specified	Uncertain significance (Aug 17, 2022)
1-4712386-C-G		not specified	Uncertain significance (Jul 27, 2024)
1-4712438-G-A		not specified	Uncertain significance (Oct 26, 2021)
1-4712453-A-G		not specified	Uncertain significance (Apr 07, 2022)
1-4712475-G-A			Benign (Jul 02, 2018)
1-4712504-C-T		not specified	Uncertain significance (Aug 13, 2021)
1-4712507-A-G		not specified	Uncertain significance (Jun 23, 2023)
1-4712553-C-G		not specified	Uncertain significance (Nov 20, 2023)
1-4712633-C-A		not specified	Uncertain significance (May 23, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AJAP1	protein_coding	protein_coding	ENST00000378191	5	137803

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.995	0.00531	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.936	200	241	0.830	0.0000161	2565
Missense in Polyphen		31	37.059	0.8365		354
Synonymous	0.163	106	108	0.980	0.00000793	889
Loss of Function	3.65	0	15.5	0.00	8.69e-7	154

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in cell adhesion and cell migration. {ECO:0000269|PubMed:16410724, ECO:0000269|PubMed:17267690}.

Recessive Scores

• pRec: 0.124

Intolerance Scores

• rvis_EVS: 0.42
• rvis_percentile_EVS: 77.06

Haploinsufficiency Scores

• pHI: 0.154
• hipred: Y
• hipred_score: 0.752
• ghis: 0.444

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.650

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ajap1
• Phenotype: skeleton phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); homeostasis/metabolism phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan)

Gene ontology

• Biological process: negative regulation of cell-matrix adhesion;cell adhesion;regulation of polarized epithelial cell differentiation;negative regulation of wound healing
• Cellular component: cell-cell adherens junction;cytoplasmic side of plasma membrane;cell surface;basolateral plasma membrane;apical plasma membrane;spanning component of plasma membrane;cell-cell contact zone
• Molecular function: protein binding;beta-catenin binding;protein-containing complex binding