AKTIP

AKT interacting protein, the group of Ubiquitin conjugating enzymes E2|FHF complex

Basic information

Region (hg38): 16:53491040-53504411

Previous symbols: [ "FTS" ]

Links

ENSG00000166971 ∙ NCBI:64400 ∙ OMIM:608483 ∙ HGNC:16710 ∙ Uniprot:Q9H8T0 ∙ 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 AKTIP gene.

• not_specified (34 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AKTIP gene is commonly pathogenic or not. These statistics are base on transcript: NM_000022476.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			34	1		35
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	34	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AKTIP	protein_coding	protein_coding	ENST00000394657	9	13372

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.404	0.596	125739	0	9	125748	0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.74	103	166	0.620	0.00000894	1908
Missense in Polyphen		15	44.471	0.3373		560
Synonymous	1.29	46	58.6	0.785	0.00000319	558
Loss of Function	3.08	4	18.1	0.220	9.50e-7	207

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000578	0.0000578
Ashkenazi Jewish	0.000298	0.000298
East Asian	0.000109	0.000109
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.000109	0.000109
South Asian	0.0000329	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of the FTS/Hook/FHIP complex (FHF complex). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex). Regulates apoptosis by enhancing phosphorylation and activation of AKT1. Increases release of TNFSF6 via the AKT1/GSK3B/NFATC1 signaling cascade. {ECO:0000269|PubMed:14749367, ECO:0000269|PubMed:18799622}.

Recessive Scores

• pRec: 0.178

Intolerance Scores

• loftool: 0.285
• rvis_EVS: 0.01
• rvis_percentile_EVS: 54.95

Haploinsufficiency Scores

• pHI: 0.588
• hipred: Y
• hipred_score: 0.825
• ghis: 0.545

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.900

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Aktip
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); vision/eye phenotype; limbs/digits/tail phenotype; skeleton phenotype; growth/size/body region phenotype

Gene ontology

• Biological process: positive regulation of protein phosphorylation;apoptotic process;endosome organization;lysosome organization;endosome to lysosome transport;protein transport;positive regulation of protein binding;early endosome to late endosome transport
• Cellular component: cytosol;plasma membrane;HOPS complex;FHF complex
• Molecular function: protein binding;ubiquitin-like protein transferase activity