AKIP1

A-kinase interacting protein 1

Basic information

Region (hg38): 11:8911139-8920084

Previous symbols: [ "C11orf17" ]

Links

ENSG00000166452

∙ NCBI:56672 ∙ OMIM:609191 ∙ HGNC:1170 ∙ Uniprot:Q9NQ31 ∙ 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 AKIP1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AKIP1 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					1 clinvar	1
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	1

Variants in AKIP1

This is a list of pathogenic ClinVar variants found in the AKIP1 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-8917348-C-G			Benign (Jan 12, 2018)	732791

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AKIP1	protein_coding	protein_coding	ENST00000309377	5	8946

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000114	0.376	125689	0	59	125748	0.000235

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.429	126	113	1.11	0.00000528	1324
Missense in Polyphen		43	45.892	0.93699		558
Synonymous	0.155	43	44.3	0.970	0.00000216	422
Loss of Function	0.308	8	9.00	0.889	3.81e-7	128

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000418	0.000412
Ashkenazi Jewish	0.000305	0.000298
East Asian	0.000170	0.000163
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000168	0.000167
Middle Eastern	0.000170	0.000163
South Asian	0.000639	0.000621
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

Function: FUNCTION: Enhances NF-kappa-B transcriptional activity by regulating the nuclear localization of the NF-kappa-B subunit RELA and promoting the phosphorylation of RELA by PRKACA. Regulates the effect of the cAMP-dependent protein kinase signaling pathway on the NF-kappa-B activation cascade. {ECO:0000269|PubMed:18178962, ECO:0000269|PubMed:20562110}.;

Recessive Scores

pRec: 0.0643

Intolerance Scores

loftool
rvis_EVS: 1.06
rvis_percentile_EVS: 91.47

Haploinsufficiency Scores

pHI: 0.0365
hipred: N
hipred_score: 0.257
ghis: 0.391

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: S
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Akip1
Phenotype: immune system phenotype;

Gene ontology

Biological process: substrate adhesion-dependent cell spreading;regulation of NIK/NF-kappaB signaling
Cellular component: nucleoplasm
Molecular function: protein binding