AJM1

apical junction component 1 homolog

Basic information

Region (hg38): 9:136842478-136848801

Previous symbols: [ "C9orf172" ]

Links

ENSG00000232434

∙ NCBI:389813 ∙ ∙ HGNC:37284 ∙ Uniprot:C9J069 ∙ 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 AJM1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AJM1 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AJM1	protein_coding	protein_coding	ENST00000436881	1	2931

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.988	0.0122	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.80	378	566	0.668	0.0000404	5964
Missense in Polyphen		109	192.29	0.56687		2114
Synonymous	-0.119	271	269	1.01	0.0000206	2254
Loss of Function	3.96	2	22.1	0.0904	0.00000125	233

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: May be involved in the control of adherens junction integrity. {ECO:0000250|UniProtKB:A0A1C3NSL9}.;

Haploinsufficiency Scores

pHI
hipred
hipred_score
ghis: 0.577

Mouse Genome Informatics

Gene name: Ajm1
Phenotype

Gene ontology

Biological process: cell-cell junction organization
Cellular component: adherens junction;cilium;apical plasma membrane
Molecular function