GeneBe

HOOK1

hook microtubule tethering protein 1, the group of FHF complex

Basic information

Region (hg38): 1:59814786-59876322

Links

ENSG00000134709 ∙ NCBI:51361 ∙ OMIM:607820 ∙ HGNC:19884 ∙ Uniprot:Q9UJC3 ∙ 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 HOOK1 gene.

  • not_specified (83 variants)
  • not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HOOK1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000015888.6. 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.

EffectPLPVUSLBBSum
synonymous
2
clinvar
 2
missense
79
clinvar
3
clinvar
 82
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 79 5 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
HOOK1protein_codingprotein_codingENST00000371208 2261593
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
3.87e-81.001257030401257430.000159
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.8493183640.8750.00001864842
Missense in Polyphen130146.280.888711967
Synonymous0.5141151220.9410.000006241228
Loss of Function3.662148.50.4330.00000228601

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0003020.000301
Ashkenazi Jewish0.000.00
East Asian0.0002230.000163
Finnish0.00004630.0000462
European (Non-Finnish)0.0002540.000237
Middle Eastern0.0002230.000163
South Asian0.00007460.0000653
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Required for spermatid differentiation. Probably involved in the positioning of the microtubules of the manchette and the flagellum in relation to the membrane skeleton (By similarity). 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) (PubMed:18799622). {ECO:0000250|UniProtKB:Q8BIL5, ECO:0000269|PubMed:18799622}.;

Recessive Scores

pRec
0.112

Intolerance Scores

loftool
0.811
rvis_EVS
-0.62
rvis_percentile_EVS
17.36

Haploinsufficiency Scores

pHI
0.459
hipred
Y
hipred_score
0.544
ghis
0.539

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.801

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Hook1
Phenotype
cellular phenotype; reproductive system phenotype;

Gene ontology

Biological process
Golgi organization;endosome organization;lysosome organization;multicellular organism development;endosome to lysosome transport;protein transport;cytoskeleton-dependent intracellular transport;cytoplasmic microtubule organization;early endosome to late endosome transport;manchette assembly
Cellular component
cytoplasm;centrosome;cytosol;microtubule;HOPS complex;FHF complex
Molecular function
actin binding;protein binding;microtubule binding;identical protein binding;dynein light intermediate chain binding